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 TP73 7161 broad.mit.edu 37 1 3638768 3638768 + Nonsense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:3638768G>T uc001akp.2 + 5 723 c.613G>T c.(613-615)GAA>TAA p.E205* TP73_uc001akq.2_Nonsense_Mutation_p.E205*|TP73_uc010nzj.1_Nonsense_Mutation_p.E156*|TP73_uc001akr.2_Nonsense_Mutation_p.E156*|TP73_uc009vlk.1_Nonsense_Mutation_p.E156*|TP73_uc001aks.2_Nonsense_Mutation_p.E156*|TP73_uc010nzk.1_Nonsense_Mutation_p.E134* NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 205 DNA-binding (Potential). cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGACTTCAACGAAGGTGAGGG 0.652000 PRAMEF18 391003 broad.mit.edu 37 1 13695903 13695903 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:13695903G>T uc009vny.1 - 3 1109 c.1062C>A c.(1060-1062)CTC>CTA p.L354L NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 354 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACTAAGAAGAGGGTCTGAA 0.542000 CLCNKB 1188 broad.mit.edu 37 1 16374433 16374433 + Missense_Mutation SNP C C T rs145962381 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:16374433C>T uc001axw.3 + 5 472 c.392C>T c.(391-393)GCG>GTG p.A131V FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.A131V|CLCNKB_uc001axy.3_5'Flank NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 131 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) ACCATGTTGGCGGGTGTGGTC 0.587000 PADI4 23569 broad.mit.edu 37 1 17690151 17690151 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:17690151C>T uc001baj.2 + 16 1921 c.1893C>T c.(1891-1893)AAC>AAT p.N631N NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 631 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCTTCATCAACGACTTCTTCA 0.612000 HMGB4 127540 broad.mit.edu 37 1 34329993 34329993 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:34329993C>A uc001bxp.2 + 2 1944 c.201C>A c.(199-201)GAC>GAA p.D67E CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 67 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCAAACTCGACAAAGCCCGAT 0.468000 C1orf216 127703 broad.mit.edu 37 1 36181267 36181267 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:36181267C>G uc001bzh.1 - 2 1144 c.656G>C c.(655-657)AGG>ACG p.R219T NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 219 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TGGTGCTGCCCTCTGCTGGAG 0.567000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MTF1 4520 broad.mit.edu 37 1 38288031 38288031 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:38288031G>A uc001cce.1 - 9 1670 c.1529C>T c.(1528-1530)GCG>GTG p.A510V MTF1_uc009vvj.1_Missense_Mutation_p.A201V NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 510 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGCCACTGCCGCTGCTGATGC 0.587000 POMGNT1 55624 broad.mit.edu 37 1 46662468 46662468 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:46662468G>A uc001cpe.2 - 4 453 c.289C>T c.(289-291)CGG>TGG p.R97W POMGNT1_uc010olx.1_Missense_Mutation_p.R75W|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_5'UTR|POMGNT1_uc001cpg.2_Missense_Mutation_p.R97W|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cpj.2_Missense_Mutation_p.R97W NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 97 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCCAGGACCCGCCGGGGACCA 0.602000 LRP8 7804 broad.mit.edu 37 1 53724104 53724104 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:53724104C>T uc001cvi.1 - 14 2238 c.2096G>A c.(2095-2097)GGC>GAC p.G699D LRP8_uc001cvh.1_Missense_Mutation_p.G252D|LRP8_uc001cvk.1_Missense_Mutation_p.G529D|LRP8_uc001cvj.1_Missense_Mutation_p.G699D|LRP8_uc001cvl.1_Missense_Mutation_p.G570D|LRP8_uc001cvm.1_Missense_Mutation_p.G284D NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 699 Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 GTATTCACAGCCTCCATTAGG 0.567000 PRMT6 55170 broad.mit.edu 37 1 107599750 107599750 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:107599750G>T uc010ous.1 + 1 484 c.413G>T c.(412-414)GGA>GTA p.G138V NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 138 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GTCCTGCCGGGACCAGTGGAG 0.667000 OVGP1 5016 broad.mit.edu 37 1 111957788 111957788 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:111957788G>A uc001eba.2 - 11 1391 c.1335C>T c.(1333-1335)ACC>ACT p.T445T OVGP1_uc001eaz.2_Silent_p.T407T|OVGP1_uc010owb.1_Silent_p.T93T NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 445 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TACCTCTAGGGGTTATAGTCA 0.498000 TCHHL1 126637 broad.mit.edu 37 1 152057468 152057468 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:152057468C>T uc001ezo.1 - 3 2755 c.2690G>A c.(2689-2691)AGG>AAG p.R897K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 897 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) GCTTGCCTCCCTTTGTAGTAC 0.498000 FLG 2312 broad.mit.edu 37 1 152279060 152279060 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:152279060C>G uc001ezu.1 - 3 8338 c.8302G>C c.(8302-8304)GAG>CAG p.E2768Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2768 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) TGTGCCTGCTCATGGCGGGAT 0.582000 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152323407 152323407 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:152323407C>A uc001ezw.3 - 3 6928 c.6855G>T c.(6853-6855)CAG>CAT p.Q2285H uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2285 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) TGGATCCTGGCTGTCTTTGTT 0.507000 KPRP 448834 broad.mit.edu 37 1 152733756 152733756 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:152733756C>A uc001fal.1 + 2 1750 c.1692C>A c.(1690-1692)GGC>GGA p.G564G NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 564 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAGACCAAGGCAATGCCTTTG 0.522000 LMNA 4000 broad.mit.edu 37 1 156106821 156106821 + Splice_Site SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:156106821T>G uc001fni.2 + 8 1737 c.1488_splice c.e8+2 p.T496_splice LMNA_uc001fnf.1_Splice_Site_p.T496_splice|LMNA_uc001fng.2_Splice_Site_p.T496_splice|LMNA_uc001fnh.2_Splice_Site_p.T496_splice|LMNA_uc009wro.1_Splice_Site_p.T496_splice|LMNA_uc010pgz.1_Splice_Site_p.T384_splice|LMNA_uc001fnj.2_Splice_Site_p.T415_splice|LMNA_uc001fnk.2_Splice_Site_p.T397_splice|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Splice_Site_p.T152_splice|LMNA_uc010phb.1_5'Flank NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) GTGGTGACGGTGAGTGGCAGG 0.597000 Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome OR10J3 441911 broad.mit.edu 37 1 159284097 159284097 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:159284097A>G uc010piu.1 - 1 353 c.353T>C c.(352-354)GTC>GCC p.V118A NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) ATATCCCATGACTGTGAGCAG 0.522000 MAEL 84944 broad.mit.edu 37 1 166985522 166985522 + Splice_Site SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:166985522G>A uc001gdy.1 + 9 979 c.908_splice c.e9+1 p.A303_splice MAEL_uc001gdz.1_Splice_Site_p.A272_splice|MAEL_uc009wvf.1_Splice_Site NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AGAAGATTGCGTAAGTTGGGG 0.368000 C1orf9 51430 broad.mit.edu 37 1 172579318 172579318 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:172579318G>A uc001giq.3 + 24 4000 c.3684G>A c.(3682-3684)CCG>CCA p.P1228P C1orf9_uc009wwd.2_Silent_p.P1184P|C1orf9_uc010pmn.1_Silent_p.P857P|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 1228 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) GATCATTGCCGAGCCTGCATG 0.383000 ASTN1 460 broad.mit.edu 37 1 176915143 176915143 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:176915143G>T uc001glc.2 - 13 2380 c.2168C>A c.(2167-2169)ACC>AAC p.T723N ASTN1_uc001glb.1_Missense_Mutation_p.T723N|ASTN1_uc001gld.1_Missense_Mutation_p.T723N|ASTN1_uc009wwx.1_Missense_Mutation_p.T723N NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 731 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCCAAAGAGGGTCTGGTTCAT 0.507000 HMCN1 83872 broad.mit.edu 37 1 186101509 186101509 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:186101509T>A uc001grq.1 + 86 13509 c.13280T>A c.(13279-13281)GTG>GAG p.V4427E HMCN1_uc001grs.1_5'UTR NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4427 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAGCTGGGGTGGTGGAGCGC 0.388000 TMCC2 9911 broad.mit.edu 37 1 205211050 205211050 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:205211050G>A uc001hbz.1 + 3 1069 c.625G>A c.(625-627)GCC>ACC p.A209T TMCC2_uc010prf.1_Missense_Mutation_p.A131T NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 209 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CAGCCTGGCCGCCATCCTGCA 0.577000 GNPAT 8443 broad.mit.edu 37 1 231401890 231401890 + Silent SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:231401890T>G uc001hup.3 + 7 1109 c.903T>G c.(901-903)CCT>CCG p.P301P GNPAT_uc009xfo.1_Silent_p.P192P|GNPAT_uc009xfp.2_Silent_p.P240P NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 301 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TAGGGGTTCCTAAACCAAAAG 0.343000 OR2G2 81470 broad.mit.edu 37 1 247752051 247752051 + Nonsense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:247752051C>A uc010pyy.1 + 1 390 c.390C>A c.(388-390)TGC>TGA p.C130* NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTGTCTGCCGTCCTCTCC 0.542000 ITIH5 80760 broad.mit.edu 37 10 7683969 7683969 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:7683969G>T uc001ijq.2 - 3 299 c.220C>A c.(220-222)CTG>ATG p.L74M ITIH5_uc001ijr.1_Missense_Mutation_p.L74M NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 74 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GCTCTGTTCAGCATTCTGCAG 0.453000 SVIL 6840 broad.mit.edu 37 10 29839533 29839533 + Nonsense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:29839533G>A uc001iut.1 - 6 1573 c.820C>T c.(820-822)CGA>TGA p.R274* SVIL_uc001iuu.1_Nonsense_Mutation_p.R274*|SVIL_uc009xld.1_Nonsense_Mutation_p.R274* NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 274 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TACCTGGGTCGGGCCTCAGGG 0.582000 ERCC6 2074 broad.mit.edu 37 10 50690777 50690777 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:50690777C>T uc001jhs.3 - 10 2279 c.2125G>A c.(2125-2127)GTC>ATC p.V709I ERCC6_uc010qgr.1_Missense_Mutation_p.V79I|ERCC6_uc001jhr.3_Missense_Mutation_p.V109I NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 709 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GTGATGGGGACGGAGAACTGC 0.438000 Direct_reversal_of_damage|NER LRRTM3 347731 broad.mit.edu 37 10 68687592 68687592 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:68687592C>A uc001jmz.1 + 2 1468 c.918C>A c.(916-918)GAC>GAA p.D306E CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.D306E NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 306 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCCTCAATGACATCAGTCTTG 0.408000 CDH23 64072 broad.mit.edu 37 10 73437442 73437442 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:73437442C>T uc001jrx.3 + 15 2121 c.1744C>T c.(1744-1746)CGG>TGG p.R582W CDH23_uc001jry.2_Missense_Mutation_p.R198W|CDH23_uc001jrz.2_Missense_Mutation_p.R198W NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 582 Cadherin 6.|Extracellular (Potential). R -> Q (in DFNB12). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACAGCTGGTGCGGCTCCGGGT 0.507000 PITX3 5309 broad.mit.edu 37 10 103990823 103990823 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:103990823C>T uc001kuu.1 - 4 511 c.357G>A c.(355-357)AAG>AAA p.K119K NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 119 Homeobox. dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGCGCTCGCGCTTCCGCCATT 0.721000 GSTO1 9446 broad.mit.edu 37 10 106019439 106019439 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:106019439C>T uc001kya.2 + 3 258 c.249C>T c.(247-249)ATC>ATT p.I83I NM_004832 NP_004823 P78417 GSTO1_HUMAN glutathione-S-transferase omega 1 83 GST N-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) GTCAGCTGATCTACGAGTCTG 0.463000 SORCS3 22986 broad.mit.edu 37 10 107007078 107007078 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:107007078G>C uc001kyi.1 + 22 3321 c.3094G>C c.(3094-3096)GCT>CCT p.A1032P SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1032 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATCAAGCGAGCTCTGGTTAA 0.378000 DCLRE1A 9937 broad.mit.edu 37 10 115602170 115602170 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:115602170A>C uc001law.2 - 6 3515 c.2597T>G c.(2596-2598)GTA>GGA p.V866G NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 866 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) GTTTAGAGTTACAGCCTCAAA 0.413000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function INPP5F 22876 broad.mit.edu 37 10 121586986 121586986 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:121586986G>A uc001leo.2 + 20 3259 c.3093G>A c.(3091-3093)GCG>GCA p.A1031A INPP5F_uc001lep.2_Silent_p.A421A NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 1031 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTGAGCCAGCGCATTCAGTTG 0.483000 CHST15 51363 broad.mit.edu 37 10 125769672 125769672 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:125769672G>A uc001lhl.2 - 7 2192 c.1679C>T c.(1678-1680)ACG>ATG p.T560M CHST15_uc001lhm.2_Missense_Mutation_p.T560M|CHST15_uc001lhn.2_Missense_Mutation_p.T560M NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 560 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 CTCTCACGTCGTCTTCCACGC 0.552000 CTBP2 1488 broad.mit.edu 37 10 126692055 126692055 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:126692055C>T uc009yak.2 - 4 352 c.65G>A c.(64-66)CGC>CAC p.R22H CTBP2_uc009yal.2_Missense_Mutation_p.R22H|CTBP2_uc001lif.3_Missense_Mutation_p.R22H|CTBP2_uc001lih.3_Missense_Mutation_p.R22H|CTBP2_uc001lid.3_Missense_Mutation_p.R90H|CTBP2_uc001lie.3_Missense_Mutation_p.R562H NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 22 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) GATCTGGGGGCGGATACCTGC 0.701000 SLC5A12 159963 broad.mit.edu 37 11 26720006 26720006 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:26720006G>A uc001mra.2 - 7 1211 c.898C>T c.(898-900)CAC>TAC p.H300Y SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.H300Y NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 300 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TCTTTAAAGTGAGAGTACATG 0.478000 LGR4 55366 broad.mit.edu 37 11 27393907 27393907 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:27393907A>T uc001mrj.3 - 16 1903 c.1418T>A c.(1417-1419)TTT>TAT p.F473Y LGR4_uc001mrk.3_Missense_Mutation_p.F449Y NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 473 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ACAACCCCAAAATGCACAGCA 0.398000 OR4A5 81318 broad.mit.edu 37 11 51412296 51412296 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:51412296A>C uc001nhi.1 - 1 100 c.100T>G c.(100-102)TTG>GTG p.L34V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 34 Helical; Name=1; (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) ACTGTCACCAAGTATGTGAGT 0.423000 OR5D18 219438 broad.mit.edu 37 11 55587542 55587542 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:55587542T>G uc010rin.1 + 1 437 c.437T>G c.(436-438)GTT>GGT p.V146G NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GTGCTGCTGGTTGTGGGATCC 0.463000 ODZ4 26011 broad.mit.edu 37 11 78381536 78381536 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:78381536G>A uc001ozl.3 - 32 6317 c.5854C>T c.(5854-5856)CGC>TGC p.R1952C ODZ4_uc001ozk.3_Missense_Mutation_p.R177C|ODZ4_uc009yvb.1_Missense_Mutation_p.R536C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1952 YD 7.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GAAGAGAGGCGGTCATTCTTG 0.542000 FAT3 120114 broad.mit.edu 37 11 92088390 92088390 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:92088390C>T uc001pdj.3 + 1 3129 c.3112C>T c.(3112-3114)CTC>TTC p.L1038F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1038 Cadherin 9.|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) CAATGAAAACCTCCACACTCC 0.483000 TCGA Ovarian(4;0.039) NLRX1 79671 broad.mit.edu 37 11 119044606 119044606 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:119044606G>A uc001pvu.2 + 5 863 c.648G>A c.(646-648)GTG>GTA p.V216V NLRX1_uc010rzc.1_Silent_p.V38V|NLRX1_uc001pvv.2_Silent_p.V216V|NLRX1_uc001pvw.2_Silent_p.V216V|NLRX1_uc001pvx.2_Silent_p.V216V NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 216 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCAACTTGTGGCCCAGCGCT 0.637000 TECTA 7007 broad.mit.edu 37 11 121023647 121023647 + Missense_Mutation SNP G G A rs150016625 byFrequency TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:121023647G>A uc010rzo.1 + 12 4163 c.4163G>A c.(4162-4164)CGC>CAC p.R1388H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1388 TIL 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGCCAGCCCCGCTGCGCCGCC 0.607000 PRB2 653247 broad.mit.edu 37 12 11546745 11546745 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:11546745A>C uc010shk.1 - 3 302 c.267T>G c.(265-267)CCT>CCG p.P89P NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGACCTTGAGGTTTGTTGC 0.617000 EMP1 2012 broad.mit.edu 37 12 13366432 13366432 + Missense_Mutation SNP C C T rs148486500 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:13366432C>T uc001rbr.2 + 3 345 c.98C>T c.(97-99)ACG>ATG p.T33M EMP1_uc009zhy.2_Intron|EMP1_uc010shr.1_Missense_Mutation_p.T33M NM_001423 NP_001414 P54849 EMP1_HUMAN epithelial membrane protein 1 33 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction 0 Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) GTTTCCAATACGGTAGATGCA 0.388000 ATF7IP 55729 broad.mit.edu 37 12 14613718 14613718 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:14613718C>A uc001rbw.2 + 9 2606 c.2448C>A c.(2446-2448)TTC>TTA p.F816L ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.F816L|ATF7IP_uc001rbv.1_Missense_Mutation_p.F815L|ATF7IP_uc001rbx.2_Missense_Mutation_p.F815L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.F816L|ATF7IP_uc001rca.2_Missense_Mutation_p.F816L NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 816 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 ATGTTGAATTCATTTCTGTGC 0.458000 LDHB 3945 broad.mit.edu 37 12 21807507 21807507 + Silent SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:21807507A>T uc001rfc.2 - 1 117 c.99T>A c.(97-99)GGT>GGA p.G33G LDHB_uc001rfd.2_Silent_p.G33G|LDHB_uc001rfe.2_Silent_p.G33G NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 33 NAD (By similarity). glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) CACACGCCATACCAACTTGTC 0.428000 IFLTD1 160492 broad.mit.edu 37 12 25702400 25702400 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:25702400A>C uc001rgs.2 - 2 257 c.107T>G c.(106-108)TTG>TGG p.L36W IFLTD1_uc001rgt.1_Translation_Start_Site|IFLTD1_uc010sji.1_Missense_Mutation_p.L57W|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.L57W NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 36 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TGAAGATGACAATGGCAGTGT 0.358000 CNTN1 1272 broad.mit.edu 37 12 41386999 41386999 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:41386999G>A uc001rmm.1 + 17 2154 c.2041G>A c.(2041-2043)GTG>ATG p.V681M CNTN1_uc001rmn.1_Missense_Mutation_p.V670M NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 681 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGAATTCCGCGTGGTAGCAAC 0.388000 KRT74 121391 broad.mit.edu 37 12 52967407 52967407 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:52967407C>A uc001sap.1 - 1 203 c.155G>T c.(154-156)AGC>ATC p.S52I NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 52 Head.|Gly-rich. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) CCCTCCAAGGCTATAGAGGCT 0.622000 HOXC4 3221 broad.mit.edu 37 12 54447817 54447817 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:54447817C>T uc001seu.2 + 3 791 c.111C>T c.(109-111)TAC>TAT p.Y37Y HOXC4_uc001sex.2_Silent_p.Y37Y NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 37 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGGAATATTACGGCCGGACCA 0.532000 NCKAP1L 3071 broad.mit.edu 37 12 54932722 54932722 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:54932722A>C uc001sgc.3 + 30 3317 c.3238A>C c.(3238-3240)AGA>CGA p.R1080R NCKAP1L_uc010sox.1_Silent_p.R622R|NCKAP1L_uc010soy.1_Silent_p.R1030R NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1080 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 GCTTAAAACCAGAAATCGAGA 0.443000 TRHDE 29953 broad.mit.edu 37 12 72956687 72956687 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:72956687A>T uc001sxa.2 + 9 1804 c.1774A>T c.(1774-1776)ACA>TCA p.T592S NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 592 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGATCAGTGGACACTCCAGAT 0.313000 ANKS1B 56899 broad.mit.edu 37 12 100200244 100200244 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:100200244G>A uc001tge.1 - 4 1024 c.607C>T c.(607-609)CGC>TGC p.R203C ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R203C NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 203 ANK 6. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGGCCATTGCGCGCAGCAAGG 0.493000 DAO 1610 broad.mit.edu 37 12 109278977 109278977 + Splice_Site SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:109278977G>A uc001tnr.3 + 2 347 c.194_splice c.e2+1 p.A65_splice DAO_uc001tnq.3_Splice_Site_p.A65_splice|DAO_uc009zvb.2_Splice_Site|DAO_uc001tns.3_Splice_Site NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 CACAGGAGGCGTGAGTGAGGG 0.612000 TPCN1 53373 broad.mit.edu 37 12 113706632 113706632 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr12:113706632G>A uc001tuw.2 + 6 911 c.614G>A c.(613-615)CGC>CAC p.R205H TPCN1_uc001tux.2_Missense_Mutation_p.R277H|TPCN1_uc010syt.1_Missense_Mutation_p.R137H NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 205 Helical; Name=S4 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 CGAGCACTGCGCTGCATTTTC 0.642000 MLNR 2862 broad.mit.edu 37 13 49795146 49795146 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr13:49795146G>A uc010tgj.1 + 1 673 c.673G>A c.(673-675)GCG>ACG p.A225T NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 225 Extracellular (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) GCCCGAGACCGCGGAGGCCGC 0.751000 DZIP1 22873 broad.mit.edu 37 13 96237002 96237002 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr13:96237002G>A uc001vmk.2 - 22 3364 c.2512C>T c.(2512-2514)CCA>TCA p.P838S DZIP1_uc001vmi.2_Missense_Mutation_p.P86S|DZIP1_uc001vmj.2_Missense_Mutation_p.P314S|DZIP1_uc001vml.2_Missense_Mutation_p.P819S|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 838 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TCTCCCTTTGGCCCCTTAGGA 0.393000 NALCN 259232 broad.mit.edu 37 13 101759837 101759837 + Splice_Site SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr13:101759837C>T uc001vox.1 - 22 2768 c.2579_splice c.e22+1 p.A860_splice NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTGTACTTACGCGTTGAAGC 0.502000 COL4A1 1282 broad.mit.edu 37 13 110804813 110804813 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr13:110804813G>A uc001vqw.3 - 51 4918 c.4796C>T c.(4795-4797)GCG>GTG p.A1599V COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1599 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCCGGGGGACGCCAGGGCTTG 0.587000 SOS2 6655 broad.mit.edu 37 14 50628209 50628209 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:50628209C>T uc001wxs.3 - 9 1285 c.1187G>A c.(1186-1188)CGT>CAT p.R396H SOS2_uc010tql.1_Missense_Mutation_p.R363H|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.R84H NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 396 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CCCAGGTCGACGTCTAGGTGA 0.418000 KCNH5 27133 broad.mit.edu 37 14 63447746 63447746 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:63447746G>T uc001xfx.2 - 6 837 c.786C>A c.(784-786)ATC>ATA p.I262I KCNH5_uc001xfy.2_Silent_p.I262I|KCNH5_uc001xfz.1_Silent_p.I204I|KCNH5_uc001xga.2_Silent_p.I204I NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 262 Helical; Name=Segment S2; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AATTTAAAACGATGTCAACCA 0.423000 PLEKHG3 26030 broad.mit.edu 37 14 65197573 65197573 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:65197573G>A uc001xho.1 + 6 892 c.623G>A c.(622-624)CGG>CAG p.R208Q PLEKHG3_uc001xhn.1_Missense_Mutation_p.R152Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R208Q|PLEKHG3_uc010aqh.1_5'UTR NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 208 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AAGTTCTTTCGGGACCGGCAG 0.647000 SIPA1L1 26037 broad.mit.edu 37 14 72055143 72055143 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:72055143T>A uc001xms.2 + 2 902 c.554T>A c.(553-555)GTG>GAG p.V185E SIPA1L1_uc001xmt.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V185E|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V185E NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 185 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GAACTTGATGTGGATAGCTTT 0.448000 C14orf174 161394 broad.mit.edu 37 14 77844277 77844277 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:77844277G>A uc001xtq.1 + 1 516 c.516G>A c.(514-516)TCG>TCA p.S172S TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 172 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) CTGAGGTTTCGGGGGCCACAG 0.483000 FLRT2 23768 broad.mit.edu 37 14 86088325 86088325 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:86088325G>T uc001xvr.2 + 2 1234 c.467G>T c.(466-468)CGG>CTG p.R156L FLRT2_uc010atd.2_Missense_Mutation_p.R156L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 156 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGGGCCTTCCGGGAGGCTATT 0.522000 ATP10A 57194 broad.mit.edu 37 15 25959366 25959366 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr15:25959366T>G uc010ayu.2 - 10 1905 c.1799A>C c.(1798-1800)AAG>ACG p.K600T NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 600 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CACCGGGGACTTCAGCTCAAA 0.602000 RYR3 6263 broad.mit.edu 37 15 33855184 33855184 + Silent SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr15:33855184T>G uc001zhi.2 + 11 1189 c.1119T>G c.(1117-1119)ACT>ACG p.T373T RYR3_uc010bar.2_Silent_p.T373T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 373 Cytoplasmic (By similarity).|MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGCCAAAACTTCCCGCCTGG 0.453000 RYR3 6263 broad.mit.edu 37 15 33925173 33925173 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr15:33925173A>G uc001zhi.2 + 24 2961 c.2891A>G c.(2890-2892)AAG>AGG p.K964R RYR3_uc010bar.2_Missense_Mutation_p.K964R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 964 2.|4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACGGCTATAAGCCAGCCCCT 0.388000 TMC3 342125 broad.mit.edu 37 15 81625267 81625267 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr15:81625267G>T uc002bgo.1 - 22 2796 c.2796C>A c.(2794-2796)GTC>GTA p.V932V TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 932 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 GCTGGCGGGGGACCCGGGATG 0.542000 CLCN7 1186 broad.mit.edu 37 16 1500502 1500502 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:1500502G>A uc002clv.2 - 17 1723 c.1613C>T c.(1612-1614)GCG>GTG p.A538V CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.A514V NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 538 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) ACTCACCGCCGCCCCCGTGAG 0.697000 HS3ST6 64711 broad.mit.edu 37 16 1961987 1961987 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:1961987G>A uc002cnf.2 - 2 540 c.540C>T c.(538-540)CAC>CAT p.H180H NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 180 0 GGCCCAGGCCGTGGCGGAAGG 0.716000 THOC6 79228 broad.mit.edu 37 16 3076271 3076271 + Missense_Mutation SNP G G A rs142007174 byFrequency TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:3076271G>A uc002ctb.2 + 5 640 c.344G>A c.(343-345)CGT>CAT p.R115H HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R115H|THOC6_uc002ctc.2_Missense_Mutation_p.R91H|THOC6_uc002cta.2_Missense_Mutation_p.R91H NM_024339 NP_077315 Q86W42 THOC6_HUMAN WD repeat domain 58 isoform 1 115 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding ovary(1)|central_nervous_system(1) 2 GAGCTGTGGCGTCGTCAGCCT 0.577000 C16orf89 146556 broad.mit.edu 37 16 5112558 5112558 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:5112558G>A uc010bud.2 - 2 428 c.340C>T c.(340-342)CGG>TGG p.R114W ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.R114W NM_152459 NP_689672 Q6UX73 CP089_HUMAN hypothetical protein LOC146556 isoform 1 76 extracellular region ovary(1)|skin(1) 2 CACTTCTCCCGGACACTTTTT 0.537000 C16orf72 29035 broad.mit.edu 37 16 9210632 9210632 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:9210632G>T uc002czm.2 + 4 1056 c.691G>T c.(691-693)GAT>TAT p.D231Y NM_014117 NP_054836 Q14CZ0 CP072_HUMAN hypothetical protein LOC29035 231 large_intestine(1) 1 TGGACTCCATGATGTCGATTT 0.478000 ITGAL 3683 broad.mit.edu 37 16 30506112 30506112 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:30506112G>A uc002dyi.3 + 13 1620 c.1444G>A c.(1444-1446)GCC>ACC p.A482T ITGAL_uc002dyj.3_Missense_Mutation_p.A399T|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 482 FG-GAP 5.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) GCTGATTGGTGCCCCACTGTT 0.587000 NKD1 85407 broad.mit.edu 37 16 50667336 50667336 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:50667336G>A uc002egg.1 + 10 1281 c.1057G>A c.(1057-1059)GGC>AGC p.G353S NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 353 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CAAGGCCCAGGGCAAGAGTGT 0.672000 CCDC135 84229 broad.mit.edu 37 16 57756726 57756726 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:57756726C>T uc002emi.2 + 10 1470 c.1381C>T c.(1381-1383)CGC>TGC p.R461C CCDC135_uc002emj.2_Missense_Mutation_p.R461C|CCDC135_uc002emk.2_Missense_Mutation_p.R396C NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 461 cytoplasm central_nervous_system(1) 1 CCTTGTGAGCCGCCTCACCAC 0.597000 CDH8 1006 broad.mit.edu 37 16 62055298 62055298 + Silent SNP G G T rs139797882 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:62055298G>T uc002eog.1 - 2 262 c.10C>A c.(10-12)CGG>AGG p.R4R NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 4 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCCGCTAGCCGTTCTGGCATG 0.443000 CES2 8824 broad.mit.edu 37 16 66974528 66974528 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:66974528G>A uc002eqr.2 + 5 1938 c.938G>A c.(937-939)GGA>GAA p.G313E CES2_uc002eqq.2_Missense_Mutation_p.G313E|CES2_uc002eqs.2_Missense_Mutation_p.G156E NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 249 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CTCTTCCACGGAGCCATCATG 0.607000 TSNAXIP1 55815 broad.mit.edu 37 16 67860070 67860070 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:67860070G>A uc002euj.2 + 10 1392 c.998G>A c.(997-999)GGC>GAC p.G333D TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.G210D|TSNAXIP1_uc002euf.3_Missense_Mutation_p.G66D|TSNAXIP1_uc010vka.1_Missense_Mutation_p.G387D|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.G318D|TSNAXIP1_uc002eug.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euh.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002eui.3_Missense_Mutation_p.G41D|TSNAXIP1_uc002euk.2_Missense_Mutation_p.G66D NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 333 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GTGGCTGGGGGCCCAGAGCGC 0.642000 CDH13 1012 broad.mit.edu 37 16 83781732 83781732 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr16:83781732C>A uc002fgx.2 + 11 1678 c.1558C>A c.(1558-1560)CCA>ACA p.P520T CDH13_uc010vns.1_Missense_Mutation_p.P567T|CDH13_uc010vnt.1_Missense_Mutation_p.P266T|CDH13_uc010vnu.1_Missense_Mutation_p.P481T NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 520 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TTACAAGGACCCAGCAGGTTG 0.473000 ALOX15 246 broad.mit.edu 37 17 4540419 4540419 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:4540419C>T uc002fyh.2 - 7 956 c.942G>A c.(940-942)ATG>ATA p.M314I ALOX15_uc010vsd.1_Missense_Mutation_p.M275I|ALOX15_uc010vse.1_Missense_Mutation_p.M336I NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 314 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCTGGATGACCATGGGCAAGA 0.517000 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:7578524G>C uc002gim.2 - 5 600 c.406C>G c.(406-408)CAA>GAA p.Q136E TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.2_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.1_Missense_Mutation_p.Q97E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 136 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.Q136R(2)|p.Q136fs*34(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(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) TTGGCCAGTTGGCAAAACATC 0.562000 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) ACACA 31 broad.mit.edu 37 17 35545334 35545334 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:35545334G>A uc002hnm.2 - 39 4739 c.4548C>T c.(4546-4548)AAC>AAT p.N1516N ACACA_uc002hnk.2_Silent_p.N1438N|ACACA_uc002hnl.2_Silent_p.N1458N|ACACA_uc002hnn.2_Silent_p.N1516N|ACACA_uc002hno.2_Silent_p.N1553N|ACACA_uc010cuy.2_Silent_p.N210N NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1516 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCAGGCGAATGTTGATTTTCA 0.498000 TTC25 83538 broad.mit.edu 37 17 40093094 40093094 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:40093094C>T uc002hyj.3 + 5 628 c.539C>T c.(538-540)TCG>TTG p.S180L TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.S180L NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 180 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TGGAAGGCCTCGCTCAAGAGT 0.512000 ABCA8 10351 broad.mit.edu 37 17 66873741 66873741 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:66873741T>G uc002jhp.2 - 31 4177 c.3998A>C c.(3997-3999)AAC>ACC p.N1333T ABCA8_uc002jhq.2_Missense_Mutation_p.N1373T|ABCA8_uc010wqq.1_Missense_Mutation_p.N1368T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1333 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CACTGTCAGGTTGGGCCACAG 0.602000 ABCA5 23461 broad.mit.edu 37 17 67257396 67257396 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr17:67257396G>A uc002jif.2 - 25 4652 c.3434C>T c.(3433-3435)GCG>GTG p.A1145V ABCA5_uc002jib.2_Missense_Mutation_p.A111V|ABCA5_uc002jic.2_Missense_Mutation_p.A368V|ABCA5_uc002jid.2_Missense_Mutation_p.A62V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1145V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1145 Helical; (Potential). cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) ACAAGCCAACGCTGCCTAAAG 0.299000 RALBP1 10928 broad.mit.edu 37 18 9513171 9513171 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:9513171G>A uc002kob.2 + 2 351 c.128G>A c.(127-129)CGC>CAC p.R43H RALBP1_uc002koc.2_Missense_Mutation_p.R43H NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 43 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 GGATTGTACCGCACTGGCGAG 0.542000 RALBP1 10928 broad.mit.edu 37 18 9517284 9517284 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:9517284G>A uc002kob.2 + 3 909 c.686G>A c.(685-687)GGC>GAC p.G229D RALBP1_uc002koc.2_Missense_Mutation_p.G229D NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 229 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 AAGTGTGAAGGCATCTACAGA 0.403000 ASXL3 80816 broad.mit.edu 37 18 31323566 31323566 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:31323566C>A uc010dmg.1 + 12 3809 c.3754C>A c.(3754-3756)CAT>AAT p.H1252N ASXL3_uc002kxq.2_Missense_Mutation_p.H959N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1252 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AATTAAAGAACATCCCTTTGT 0.368000 NETO1 81832 broad.mit.edu 37 18 70451126 70451126 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:70451126A>G uc002lkw.2 - 7 939 c.655T>C c.(655-657)TTG>CTG p.L219L NETO1_uc002lkx.1_Silent_p.L218L|NETO1_uc002lky.1_Silent_p.L219L NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 219 CUB 2.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCATAGTCCAAGAATCGTAAG 0.338000 ZNF236 7776 broad.mit.edu 37 18 74607115 74607115 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:74607115G>A uc002lmi.2 + 10 1756 c.1558G>A c.(1558-1560)GCC>ACC p.A520T ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 520 C2H2-type 11. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCGCGCCTTCGCCGTGAAGAG 0.622000 CD70 970 broad.mit.edu 37 19 6586225 6586225 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:6586225C>T uc002mfi.2 - 3 538 c.388G>A c.(388-390)GTG>ATG p.V130M CD70_uc010xjf.1_Missense_Mutation_p.V130M NM_001252 NP_001243 P32970 CD70_HUMAN tumor necrosis factor ligand superfamily, member 130 Extracellular (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding 0 CAGATTCCCACGGCCAGGGTG 0.637000 MUC16 94025 broad.mit.edu 37 19 9087510 9087510 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:9087510A>C uc002mkp.2 - 1 4509 c.4305T>G c.(4303-4305)ACT>ACG p.T1435T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1435 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 GGACATCAGAAGTTAGTTCCA 0.507000 COL5A3 50509 broad.mit.edu 37 19 10081312 10081312 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:10081312G>T uc002mmq.1 - 54 4008 c.3922C>A c.(3922-3924)CCC>ACC p.P1308T NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1308 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TTgccggggggcccgggggcg 0.478000 ZSWIM4 65249 broad.mit.edu 37 19 13919781 13919781 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:13919781C>T uc002mxh.1 + 4 1033 c.844C>T c.(844-846)CGC>TGC p.R282C ZSWIM4_uc010xng.1_Missense_Mutation_p.R88C NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 282 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCAGCAGCTGCGCTCCATGTT 0.597000 UPF1 5976 broad.mit.edu 37 19 18965495 18965495 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:18965495G>A uc002nkg.2 + 9 1550 c.1275G>A c.(1273-1275)GTG>GTA p.V425V UPF1_uc002nkf.2_Silent_p.V414V NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 425 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGGATTTTGTGTGGAAGTCGA 0.552000 SF4 57794 broad.mit.edu 37 19 19391068 19391068 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:19391068C>T uc002nmh.2 - 9 1278 c.1276G>A c.(1276-1278)GGG>AGG p.G426R SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.G216R|SF4_uc002nmj.2_Missense_Mutation_p.G216R|SF4_uc002nme.2_5'UTR NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 426 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 ACAGGCTTCCCCTTCTCATAG 0.607000 TSHZ3 57616 broad.mit.edu 37 19 31769898 31769898 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:31769898C>T uc002nsy.3 - 2 866 c.801G>A c.(799-801)GGG>GGA p.G267G NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 267 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CGTCTTCCTTCCCTTCCATTT 0.527000 SERTAD1 29950 broad.mit.edu 37 19 40929446 40929446 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:40929446C>T uc002ont.3 - 2 167 c.8G>A c.(7-9)AGC>AAC p.S3N NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 3 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGACCCTTGCTCAGCATCtg 0.333000 PNMAL2 57469 broad.mit.edu 37 19 46997623 46997623 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:46997623T>C uc002pes.2 - 1 1547 c.1100A>G c.(1099-1101)GAC>GGC p.D367G uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 367 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GTCTCGCTTGTCTTTCTCGTC 0.627000 SYT3 84258 broad.mit.edu 37 19 51128454 51128454 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:51128454G>A uc002pst.2 - 7 2306 c.1672C>T c.(1672-1674)CGC>TGC p.R558C SYT3_uc002psv.2_Missense_Mutation_p.R558C|SYT3_uc010ycd.1_Missense_Mutation_p.R558C NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 558 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) ACGGGCTTGCGGGGATTGGCC 0.682000 ZNF765 91661 broad.mit.edu 37 19 53912160 53912160 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:53912160C>T uc010ydx.1 + 6 1679 c.1352C>T c.(1351-1353)TCA>TTA p.S451L ZNF765_uc002qbm.2_Missense_Mutation_p.S451L|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 451 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) AGTTTCAAATCAAACCTTGAA 0.383000 LAIR1 3903 broad.mit.edu 37 19 54875910 54875910 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:54875910G>A uc002qfk.1 - 2 372 c.62C>T c.(61-63)ACG>ATG p.T21M LAIR1_uc002qfl.1_Missense_Mutation_p.T21M|LAIR1_uc002qfm.1_Missense_Mutation_p.T21M|LAIR1_uc002qfn.1_Missense_Mutation_p.T21M|LAIR1_uc010yex.1_Missense_Mutation_p.T15M|LAIR1_uc002qfo.2_Intron NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 21 integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACCCTCCTGCGTGTGGATGGT 0.597000 NLRP7 199713 broad.mit.edu 37 19 55446019 55446019 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:55446019C>T uc002qih.3 - 7 2385 c.2309G>A c.(2308-2310)GGT>GAT p.G770D NLRP7_uc002qig.3_Missense_Mutation_p.G742D|NLRP7_uc002qii.3_Missense_Mutation_p.G770D|NLRP7_uc010esk.2_Missense_Mutation_p.G770D|NLRP7_uc010esl.2_Missense_Mutation_p.G798D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 770 LRR 3. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GGCACAGTGACCTCCCAACCT 0.438000 C2orf71 388939 broad.mit.edu 37 2 29296154 29296154 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:29296154A>T uc002rmt.1 - 1 974 c.974T>A c.(973-975)CTG>CAG p.L325Q NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 325 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 TAGCTGCCTCAGAGCCCTCAG 0.577000 SIX2 10736 broad.mit.edu 37 2 45235916 45235916 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:45235916G>A uc002ruo.2 - 1 627 c.334C>T c.(334-336)CGC>TGC p.R112C SIX2_uc002rup.2_Missense_Mutation_p.R112C NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 112 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AATTTGCGGCGCACGCGGTAT 0.657000 TSPYL6 388951 broad.mit.edu 37 2 54483006 54483006 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:54483006C>T uc002rxr.2 - 1 404 c.283G>A c.(283-285)GCG>ACG p.A95T ACYP2_uc002rxq.3_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN TSPY-like 6 95 nucleosome assembly nucleus 0 AGGCCCTCCGCGGGTGGTGGA 0.617000 FAM176A 84141 broad.mit.edu 37 2 75720569 75720569 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:75720569G>A uc002sni.2 - 4 730 c.252C>T c.(250-252)AGC>AGT p.S84S FAM176A_uc002snj.1_Silent_p.S71S|FAM176A_uc002snk.1_Silent_p.S84S NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 84 apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 TGCCATCCTCGCTGTCGCTGC 0.597000 ATOH8 84913 broad.mit.edu 37 2 85981597 85981598 + Missense_Mutation DNP GC GC AA TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:85981597_85981598GC>AA uc002sqn.2 + 1 689_690 c.285_286GC>AA c.(283-288)GAGCGC>GAAAGC p.R96S ATOH8_uc002sqm.3_Missense_Mutation_p.R96S NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN atonal homolog 8 96 Pro-rich. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 CAGCCGGGGAGCGCGGGGGCTC 0.772000 SLC5A7 60482 broad.mit.edu 37 2 108618467 108618467 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:108618467T>C uc002tdv.2 + 6 988 c.712T>C c.(712-714)TAC>CAC p.Y238H SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.Y238H|SLC5A7_uc010ywn.1_Missense_Mutation_p.Y125H NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 238 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) ATCTGAAGTCTACTCTTGGCT 0.413000 CNTNAP5 129684 broad.mit.edu 37 2 125530594 125530594 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:125530594G>T uc002tno.2 + 17 3113 c.2749G>T c.(2749-2751)GGG>TGG p.G917W CNTNAP5_uc010flu.2_Missense_Mutation_p.G918W NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 917 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GTTGTTTGTAGGTAGGGGACA 0.502000 R3HDM1 23518 broad.mit.edu 37 2 136396502 136396502 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:136396502C>T uc002tuo.2 + 14 1399 c.1029C>T c.(1027-1029)AGC>AGT p.S343S R3HDM1_uc010fni.2_Silent_p.S341S|R3HDM1_uc002tup.2_Silent_p.S287S|R3HDM1_uc010zbh.1_Silent_p.S175S NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 343 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CTACAAATAGCCATCAAAGCA 0.398000 THSD7B 80731 broad.mit.edu 37 2 137814207 137814207 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:137814207C>T uc002tva.1 + 2 264 c.264C>T c.(262-264)TAC>TAT p.Y88Y THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Translation_Start_Site 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) TTGTTCCTTACGCTCGCGGTG 0.552000 LRP1B 53353 broad.mit.edu 37 2 141004684 141004684 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:141004684T>C uc002tvj.1 - 87 14267 c.13295A>G c.(13294-13296)AAG>AGG p.K4432R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4432 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) CTTGCTGCTCTTTGGGGCTGG 0.383000 TSP Lung(27;0.18) SCN3A 6328 broad.mit.edu 37 2 166021016 166021016 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:166021016C>A uc002ucx.2 - 6 980 c.488G>T c.(487-489)GGA>GTA p.G163V SCN3A_uc002ucy.2_Missense_Mutation_p.G163V|SCN3A_uc002ucz.2_Missense_Mutation_p.G163V|SCN3A_uc002uda.1_Missense_Mutation_p.G32V|SCN3A_uc002udb.1_Missense_Mutation_p.G32V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 163 Helical; Name=S2 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GGTATAGATTCCAGTGAATGT 0.338000 SCN2A 6326 broad.mit.edu 37 2 166229777 166229777 + Nonsense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:166229777G>T uc002udc.2 + 21 4182 c.3892G>T c.(3892-3894)GAA>TAA p.E1298* SCN2A_uc002udd.2_Nonsense_Mutation_p.E1298*|SCN2A_uc002ude.2_Nonsense_Mutation_p.E1298* NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1298 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GGGTTACTCAGAACTTGGTGC 0.413000 XIRP2 129446 broad.mit.edu 37 2 168101416 168101416 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:168101416G>C uc002udx.2 + 8 3532 c.3514G>C c.(3514-3516)GAA>CAA p.E1172Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E997Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E950Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 997 Xin 18. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTTTGAGACAGAAAATTTGGA 0.388000 DLX2 1746 broad.mit.edu 37 2 172965545 172965545 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:172965545G>A uc002uhn.2 - 3 925 c.713C>T c.(712-714)CCG>CTG p.P238L NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCAGGAGGCCGGCGCTGAGAC 0.692000 HOXD12 3238 broad.mit.edu 37 2 176965305 176965305 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:176965305G>A uc010zev.1 + 2 630 c.630G>A c.(628-630)ACG>ACA p.T210T HOXD12_uc010zew.1_Missense_Mutation_p.E220K NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 210 Homeobox. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) AACCCTACACGAAGCAGCAGA 0.597000 TTN 7273 broad.mit.edu 37 2 179445168 179445168 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:179445168G>C uc010zfg.1 - 266 59458 c.59234C>G c.(59233-59235)ACT>AGT p.T19745S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13440S|TTN_uc010zfi.1_Missense_Mutation_p.T13373S|TTN_uc010zfj.1_Missense_Mutation_p.T13248S|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20672 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) GTCAAAGTCAGTTGACTTTAT 0.388000 TTN 7273 broad.mit.edu 37 2 179499302 179499302 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:179499302C>T uc010zfg.1 - 179 34726 c.34502G>A c.(34501-34503)CGA>CAA p.R11501Q TTN_uc010zfh.1_Missense_Mutation_p.R5196Q|TTN_uc010zfi.1_Missense_Mutation_p.R5129Q|TTN_uc010zfj.1_Missense_Mutation_p.R5004Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12428 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) TCGAGCCTGTCGCCTTTCTGG 0.428000 TTN 7273 broad.mit.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:179616598A>C uc002unb.2 - 46 10753 c.10529T>G c.(10528-10530)CTT>CGT p.L3510R 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) TTTAAATGTAAGTTTCTGGGT 0.378000 TNS1 7145 broad.mit.edu 37 2 218712303 218712303 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:218712303A>C uc002vgt.2 - 17 2960 c.2562T>G c.(2560-2562)ACT>ACG p.T854T TNS1_uc002vgr.2_Silent_p.T854T|TNS1_uc002vgs.2_Silent_p.T854T|TNS1_uc010zjv.1_Silent_p.T854T|TNS1_uc010fvj.1_Silent_p.T922T|TNS1_uc010fvk.1_Silent_p.T979T|TNS1_uc010fvi.1_Silent_p.T541T NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 854 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGGGGTCTGAAGTCGCTTCCT 0.597000 PLCD4 84812 broad.mit.edu 37 2 219501217 219501217 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:219501217T>G uc002vij.1 + 16 2401 c.2206T>G c.(2206-2208)TCC>GCC p.S736A NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 736 intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCACCTGCTGTCCAAAGATGG 0.592000 CCDC108 255101 broad.mit.edu 37 2 219892515 219892515 + Nonsense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:219892515G>A uc002vjl.1 - 13 2152 c.2068C>T c.(2068-2070)CGA>TGA p.R690* CCDC108_uc010fwa.1_Nonsense_Mutation_p.R133*|CCDC108_uc010zkp.1_Nonsense_Mutation_p.R679*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.R625* NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 690 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGACCTTCGCGTCCAGACC 0.637000 OBSL1 23363 broad.mit.edu 37 2 220431630 220431630 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:220431630C>T uc010fwk.2 - 5 2113 c.2056G>A c.(2056-2058)GTC>ATC p.V686I OBSL1_uc010fwl.1_Missense_Mutation_p.V161I|OBSL1_uc002vmi.2_Missense_Mutation_p.V686I|OBSL1_uc002vmj.2_Missense_Mutation_p.V273I NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 686 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGGTGCTTGACGGCATGCAGG 0.632000 CHRNG 1146 broad.mit.edu 37 2 233407734 233407734 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:233407734C>T uc002vsx.1 + 7 768 c.747C>T c.(745-747)ATC>ATT p.I249I CHRNG_uc010fye.1_Silent_p.I197I NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 249 Helical; (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TCAACATCATCGCCCCCTGTG 0.602000 DNAJB3 414061 broad.mit.edu 37 2 234652296 234652296 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:234652296G>A uc002vuz.2 - 1 366 c.267C>T c.(265-267)TAC>TAT p.Y89Y UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 89 protein folding heat shock protein binding|unfolded protein binding 0 AGCTGAAGACGTACTCGAAGG 0.617000 HJURP 55355 broad.mit.edu 37 2 234750289 234750289 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:234750289C>T uc002vvg.2 - 8 1203 c.1137G>A c.(1135-1137)GTG>GTA p.V379V HJURP_uc010znd.1_Silent_p.V318V|HJURP_uc010zne.1_Silent_p.V287V NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 379 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TCGAGGGTGTCACTTTGCGCT 0.368000 FASTKD5 60493 broad.mit.edu 37 20 3127667 3127667 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:3127667G>A uc002whz.2 - 2 2361 c.2050C>T c.(2050-2052)CTG>TTG p.L684L uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 684 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 GCGGGGCACAGGCCAGCCATC 0.552000 C20orf194 25943 broad.mit.edu 37 20 3236670 3236670 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:3236670C>A uc002wii.2 - 34 3294 c.3243G>T c.(3241-3243)CTG>CTT p.L1081L C20orf194_uc002wij.3_Silent_p.L820L|C20orf194_uc002wik.2_Silent_p.L755L NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 1081 0 CTGACTGCCGCAGCCAGTCCT 0.577000 ASXL1 171023 broad.mit.edu 37 20 31023525 31023525 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:31023525G>A uc002wxs.2 + 12 3436 c.3010G>A c.(3010-3012)GAC>AAC p.D1004N ASXL1_uc010geb.2_Missense_Mutation_p.D895N NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1004 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.T1001fs*4(1) haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TACAGCCTCTGACTTTGAAGG 0.502000 F|N|Mis MDS|CMML MMP24 10893 broad.mit.edu 37 20 33862271 33862271 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:33862271C>T uc002xbu.2 + 9 1800 c.1797C>T c.(1795-1797)TCC>TCT p.S599S EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 599 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGCCGGGCTCCGTGAACGCCG 0.627000 FAM83D 81610 broad.mit.edu 37 20 37581072 37581072 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:37581072C>T uc002xjg.2 + 4 1798 c.1757C>T c.(1756-1758)ACT>ATT p.T586I NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 556 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) ACACTCTTTACTGAAAACCAC 0.453000 SALL4 57167 broad.mit.edu 37 20 50407967 50407967 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:50407967G>A uc002xwh.3 - 2 1156 c.1055C>T c.(1054-1056)GCG>GTG p.A352V SALL4_uc010gii.2_Missense_Mutation_p.A352V|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 352 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTGTCTAGCGCCACAGTGGA 0.617000 MC3R 4159 broad.mit.edu 37 20 54824543 54824543 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:54824543G>A uc002xxb.2 + 1 756 c.644G>A c.(643-645)CGG>CAG p.R215Q NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 252 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CTCTTTGCGCGGCTGCACGTC 0.572000 ZNF831 128611 broad.mit.edu 37 20 57766724 57766724 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:57766724G>A uc002yan.2 + 1 650 c.650G>A c.(649-651)GGG>GAG p.G217E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 217 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTGGAGGAAGGGGACAAGGCC 0.687000 ARFGAP1 55738 broad.mit.edu 37 20 61919114 61919114 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr20:61919114C>T uc002yem.2 + 13 1222 c.1110C>T c.(1108-1110)GCC>GCT p.A370A ARFGAP1_uc011aas.1_Silent_p.A325A|ARFGAP1_uc011aat.1_Silent_p.A257A|ARFGAP1_uc002yel.2_Silent_p.A378A|ARFGAP1_uc002yen.2_3'UTR|ARFGAP1_uc002yeo.1_RNA NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 370 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) GGGGCTCGGCCTCCACCAACA 0.692000 MCM3AP 8888 broad.mit.edu 37 21 47685984 47685984 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr21:47685984G>A uc002zir.1 - 11 2922 c.2886C>T c.(2884-2886)GTC>GTT p.V962V MCM3AP_uc002ziq.1_5'UTR NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 962 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CAATTTCCCCGACTGACACCG 0.562000 SCARF2 91179 broad.mit.edu 37 22 20785156 20785156 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr22:20785156G>A uc002zsj.1 - 5 999 c.894C>T c.(892-894)GCC>GCT p.A298A SCARF2_uc002zsk.1_Silent_p.A298A NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 298 Extracellular (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGCGGCCCTCGGCCACCGTGC 0.706000 MYH9 4627 broad.mit.edu 37 22 36684873 36684873 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr22:36684873C>T uc003apg.2 - 33 4901 c.4670G>A c.(4669-4671)CGG>CAG p.R1557Q NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1557 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GACCTCCAACCGCAGCTTGGC 0.627000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CYTH4 27128 broad.mit.edu 37 22 37695268 37695268 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr22:37695268G>A uc003arf.2 + 6 471 c.355G>A c.(355-357)GAT>AAT p.D119N CYTH4_uc003are.2_Missense_Mutation_p.D119N|CYTH4_uc011amw.1_Missense_Mutation_p.D62N|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 119 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTCCCCCAGGGATCCCATCAA 0.647000 ATXN10 25814 broad.mit.edu 37 22 46125340 46125340 + Missense_Mutation SNP C C T rs149859910 byFrequency TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr22:46125340C>T uc003bgm.1 + 7 1021 c.764C>T c.(763-765)ACG>ATG p.T255M ATXN10_uc011aqt.1_Missense_Mutation_p.T191M|ATXN10_uc003bgn.1_Missense_Mutation_p.T66M NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 255 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GCCAAGATAACGAGTGATGAG 0.393000 BRPF1 7862 broad.mit.edu 37 3 9780998 9780998 + Silent SNP C C T rs146224207 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:9780998C>T uc003bse.2 + 3 1314 c.915C>T c.(913-915)TAC>TAT p.Y305Y BRPF1_uc003bsf.2_Silent_p.Y305Y|BRPF1_uc003bsg.2_Silent_p.Y305Y|BRPF1_uc011ati.1_Silent_p.Y305Y NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 305 PHD-type. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) AGGAGTGCTACGGTGTCCCCT 0.582000 OGG1 4968 broad.mit.edu 37 3 9796425 9796425 + Silent SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:9796425G>C uc003bsi.2 + 4 946 c.603G>C c.(601-603)CTG>CTC p.L201L OGG1_uc003bsh.2_Silent_p.L201L|OGG1_uc003bsj.2_Silent_p.L201L|OGG1_uc003bsk.2_Silent_p.L201L|OGG1_uc003bsl.2_Silent_p.L201L|OGG1_uc003bsm.2_Silent_p.L201L|OGG1_uc003bsn.2_Silent_p.L201L|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Intron|OGG1_uc010hcm.1_Silent_p.L44L|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Intron NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 201 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) AGCTGGGCCTGGGCTATCGTG 0.607000 BER_DNA_glycosylases OXNAD1 92106 broad.mit.edu 37 3 16344253 16344253 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:16344253C>T uc003caw.2 + 8 1239 c.782C>T c.(781-783)ACG>ATG p.T261M OXNAD1_uc003cax.2_Missense_Mutation_p.T261M|OXNAD1_uc011awb.1_Missense_Mutation_p.T279M NM_138381 NP_612390 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 261 oxidoreductase activity skin(1) 1 CCATACATCACGGGTGAGTCC 0.408000 ARPP21 10777 broad.mit.edu 37 3 35750490 35750490 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:35750490C>A uc003cgb.2 + 11 1089 c.825C>A c.(823-825)GAC>GAA p.D275E ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_Intron NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 275 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TTAGAGATGACAGACGAAGTA 0.378000 STAC 6769 broad.mit.edu 37 3 36524582 36524582 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:36524582C>A uc003cgh.1 + 3 526 c.487C>A c.(487-489)CTG>ATG p.L163M STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Intron NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 163 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 CATGGGCAAGCTGGTAAGGGC 0.572000 CSPG5 10675 broad.mit.edu 37 3 47610710 47610710 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:47610710G>A uc003crp.3 - 4 1566 c.1390C>T c.(1390-1392)CGG>TGG p.R464W CSPG5_uc003crn.2_Missense_Mutation_p.R326W|CSPG5_uc003cro.3_Missense_Mutation_p.R464W|CSPG5_uc011bbb.1_Missense_Mutation_p.R326W NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 464 Cytoplasmic (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GATGGGGTCCGGAATTTGCTG 0.453000 IQCF2 389123 broad.mit.edu 37 3 51897243 51897243 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:51897243C>T uc003dbt.1 + 3 390 c.352C>T c.(352-354)CGA>TGA p.R118* IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 118 IQ 2. 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGTCCGCTGGCGATACTGCCA 0.592000 SNTN 132203 broad.mit.edu 37 3 63638415 63638415 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:63638415G>A uc003dlr.2 + 1 72 c.52G>A c.(52-54)GAT>AAT p.D18N NM_001080537 NP_001074006 A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 18 cilium calcium ion binding ovary(1) 1 CTTGGAAGGAGATCCCAATCC 0.478000 C3orf30 152405 broad.mit.edu 37 3 118865449 118865449 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:118865449C>T uc003ecb.1 + 1 453 c.413C>T c.(412-414)ACG>ATG p.T138M IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.T138M NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 138 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) TCTGGCCTGACGGAGGAAAGA 0.478000 ASTE1 28990 broad.mit.edu 37 3 130733117 130733117 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:130733117G>A uc003env.1 - 6 2266 c.1824C>T c.(1822-1824)TTC>TTT p.F608F ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Silent_p.F633F|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 608 DNA repair nuclease activity 0 TTGTGGCATTGAATAGATATT 0.428000 EPHB1 2047 broad.mit.edu 37 3 134670497 134670497 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:134670497A>C uc003eqt.2 + 3 628 c.408A>C c.(406-408)AAA>AAC p.K136N EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.K136N NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 136 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CCTACCTCAAAGTAGACACCA 0.507000 EPHB1 2047 broad.mit.edu 37 3 134851755 134851755 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:134851755G>A uc003eqt.2 + 5 1381 c.1161G>A c.(1159-1161)ACG>ACA p.T387T EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 387 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.T387M(2)|p.T387T(2) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGGGCCTGACGGAGTGCCGCG 0.612000 ZBTB38 253461 broad.mit.edu 37 3 141162920 141162920 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:141162920A>G uc003etw.2 + 8 2672 c.1690A>G c.(1690-1692)AAA>GAA p.K564E ZBTB38_uc010hun.2_Missense_Mutation_p.K561E|ZBTB38_uc010huo.2_Missense_Mutation_p.K564E|ZBTB38_uc003ety.2_Missense_Mutation_p.K564E|ZBTB38_uc010hup.2_Missense_Mutation_p.K565E NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 564 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CTATCCGTATAAACTTTATAG 0.383000 ZIC1 7545 broad.mit.edu 37 3 147128475 147128475 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:147128475G>A uc003ewe.2 + 1 1295 c.576G>A c.(574-576)CCG>CCA p.P192P NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 192 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ATGCTGCGCCGCAGCTGCACG 0.657000 ZBBX 79740 broad.mit.edu 37 3 167039951 167039951 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:167039951C>A uc003fep.2 - 12 1260 c.937G>T c.(937-939)GAC>TAC p.D313Y ZBBX_uc011bpc.1_Missense_Mutation_p.D313Y|ZBBX_uc003feq.2_Missense_Mutation_p.D284Y NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 313 intracellular zinc ion binding ovary(2) 2 GATAGAATGTCTTCTTTAAGT 0.279000 TNK2 10188 broad.mit.edu 37 3 195595338 195595338 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr3:195595338C>T uc003fvu.1 - 12 2329 c.1786G>A c.(1786-1788)GCC>ACC p.A596T TNK2_uc003fvq.1_Missense_Mutation_p.A3T|TNK2_uc003fvr.1_Missense_Mutation_p.A121T|TNK2_uc003fvs.1_Missense_Mutation_p.A628T|TNK2_uc003fvt.1_Missense_Mutation_p.A674T|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 596 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) AGGGAGCAGGCGTCCATGGCC 0.746000 SLC26A1 10861 broad.mit.edu 37 4 984120 984120 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr4:984120C>T uc003gcb.2 - 4 985 c.607G>A c.(607-609)GTG>ATG p.V203M SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.V203M NM_213613 NP_998778 Q9H2B4 S26A1_HUMAN solute carrier family 26, member 1 isoform a 203 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TAGGCGGACACGAAGCCCAGC 0.677000 FAM193A 8603 broad.mit.edu 37 4 2701991 2701991 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr4:2701991G>A uc010icl.2 + 17 3570 c.3219G>A c.(3217-3219)CAG>CAA p.Q1073Q FAM193A_uc010ick.2_Silent_p.Q1273Q|FAM193A_uc003gfd.2_Silent_p.Q1073Q|FAM193A_uc011bvm.1_Silent_p.Q1095Q|FAM193A_uc011bvn.1_Silent_p.Q1073Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.Q927Q NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 1073 ovary(3) 3 CAGAGGGGCAGTCCAAGCCCC 0.562000 UGT2B15 7366 broad.mit.edu 37 4 69519913 69519913 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr4:69519913G>A uc011cal.1 - 5 1193 c.1155C>T c.(1153-1155)ATC>ATT p.I385I NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 385 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 TCCCATGGTAGATCGCCTCAT 0.423000 GRID2 2895 broad.mit.edu 37 4 93225895 93225895 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr4:93225895G>A uc011cdt.1 + 1 346 c.88G>A c.(88-90)GGA>AGA p.G30R GRID2_uc010ikx.2_Missense_Mutation_p.G30R|GRID2_uc011cdu.1_Missense_Mutation_p.G30R NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 30 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CATTCACATCGGTAAGAAAGT 0.502000 IRX1 79192 broad.mit.edu 37 5 3599879 3599879 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:3599879G>A uc003jde.2 + 2 869 c.817G>A c.(817-819)GAC>AAC p.D273N NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 273 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GGCAGCAGCCGACGTTCTCAA 0.726000 CTNND2 1501 broad.mit.edu 37 5 11022914 11022914 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:11022914T>G uc003jfa.1 - 17 3111 c.2966A>C c.(2965-2967)AAG>ACG p.K989T CTNND2_uc010itt.2_Missense_Mutation_p.K898T|CTNND2_uc011cmy.1_Missense_Mutation_p.K652T|CTNND2_uc011cmz.1_Missense_Mutation_p.K556T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K581T NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 989 ARM 9. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCCGACCAACTTCTCGATGCC 0.498000 TRIO 7204 broad.mit.edu 37 5 14492826 14492826 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:14492826G>A uc003jff.2 + 49 7789 c.7783G>A c.(7783-7785)GCC>ACC p.A2595T TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2595 SH3 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GTTCCGAGCCGCCACTGACCA 0.572000 ADAMTS12 81792 broad.mit.edu 37 5 33576376 33576376 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:33576376C>T uc003jia.1 - 19 3918 c.3755G>A c.(3754-3756)GGA>GAA p.G1252E ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1167E NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1252 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GTGGTCTCCTCCCAGAGGGAG 0.532000 HNSCC(64;0.19) IL6ST 3572 broad.mit.edu 37 5 55238562 55238562 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:55238562C>T uc003jqq.2 - 16 2210 c.1955G>A c.(1954-1956)TGG>TAG p.W652* IL6ST_uc010iwb.2_Nonsense_Mutation_p.W591*|IL6ST_uc010iwc.2_Missense_Mutation_p.G165S|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Nonsense_Mutation_p.W363*|IL6ST_uc003jqr.2_3'UTR NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 652 Cytoplasmic (Potential).|Box 1 motif. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AACATTAGGCCAGATGTGTTT 0.348000 O hepatocellular ca FER 2241 broad.mit.edu 37 5 108436218 108436218 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:108436218C>G uc003kop.1 + 17 2430 c.2046C>G c.(2044-2046)CAC>CAG p.H682Q FER_uc011cvg.1_Missense_Mutation_p.H507Q NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 682 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ACTGTATACACAGGTAAGGAG 0.323000 KDM3B 51780 broad.mit.edu 37 5 137727090 137727090 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr5:137727090A>C uc003lcy.1 + 8 1969 c.1769A>C c.(1768-1770)GAC>GCC p.D590A KDM3B_uc010jew.1_Missense_Mutation_p.D246A|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 590 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AGCTCTGTGGACCGGAAAGTG 0.527000 BAT2 7916 broad.mit.edu 37 6 31600501 31600501 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:31600501G>A uc003nvb.3 + 16 4300 c.4051G>A c.(4051-4053)GTG>ATG p.V1351M BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.V1351M NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1351 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 ACCCAAGGCTGTGGGAACTCC 0.582000 C6orf25 80739 broad.mit.edu 37 6 31692809 31692809 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:31692809G>A uc011doc.1 + 6 684 c.684G>A c.(682-684)GCG>GCA p.A228A C6orf25_uc003nwk.2_Missense_Mutation_p.G235R|C6orf25_uc011dod.1_Silent_p.A184A|C6orf25_uc011doe.1_Silent_p.A204A|C6orf25_uc003nwo.2_Missense_Mutation_p.G191R|C6orf25_uc003nwn.2_3'UTR NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 228 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 TGTCCACAGCGGACCCTGCTG 0.587000 CPNE5 57699 broad.mit.edu 37 6 36710164 36710164 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:36710164C>T uc003omr.1 - 21 1730 c.1663G>A c.(1663-1665)GTG>ATG p.V555M CPNE5_uc003omp.1_Missense_Mutation_p.V263M|CPNE5_uc010jwn.1_Missense_Mutation_p.V205M|CPNE5_uc003omq.1_Missense_Mutation_p.V205M NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 555 skin(1) 1 ATGTAGGACACCAGTTGGTCA 0.682000 APOBEC2 10930 broad.mit.edu 37 6 41029224 41029224 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:41029224G>T uc003opl.2 + 2 436 c.289G>T c.(289-291)GCC>TCC p.A97S UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_Intron NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 97 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GCATGCGGCTGCCCATGCAGA 0.592000 EYS 346007 broad.mit.edu 37 6 66094316 66094316 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:66094316T>C uc011dxu.1 - 8 1800 c.1262A>G c.(1261-1263)AAT>AGT p.N421S EYS_uc003peq.2_Missense_Mutation_p.N421S|EYS_uc003per.1_Missense_Mutation_p.N421S NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 421 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CCATTCTTCATTCAGACAGTT 0.323000 VNN2 8875 broad.mit.edu 37 6 133070863 133070863 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:133070863C>T uc003qdt.2 - 6 1353 c.1342G>A c.(1342-1344)GAA>AAA p.E448K VNN2_uc003qds.2_Missense_Mutation_p.E157K|VNN2_uc010kgb.2_Missense_Mutation_p.E227K|VNN2_uc003qdv.2_Missense_Mutation_p.E395K NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 448 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AGATGAATTTCGGTAAGTAGC 0.373000 PHACTR2 9749 broad.mit.edu 37 6 144086875 144086875 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:144086875C>T uc003qjq.3 + 6 1269 c.1139C>T c.(1138-1140)ACG>ATG p.T380M PHACTR2_uc010khh.2_Missense_Mutation_p.T300M|PHACTR2_uc010khi.2_Missense_Mutation_p.T391M|PHACTR2_uc003qjr.3_Missense_Mutation_p.T311M NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 380 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GAAGAGCCGACGAACAGAACC 0.493000 MAS1 4142 broad.mit.edu 37 6 160328940 160328940 + Missense_Mutation SNP C C T rs148082809 by1000genomes TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr6:160328940C>T uc003qsz.2 + 1 967 c.953C>T c.(952-954)ACG>ATG p.T318M NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 318 Cytoplasmic (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) AATTGTAATACGGTCACAGTT 0.408000 ZNF12 7559 broad.mit.edu 37 7 6731413 6731413 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:6731413C>T uc003sqt.1 - 5 1714 c.1160G>A c.(1159-1161)GGG>GAG p.G387E ZNF12_uc011jxa.1_Missense_Mutation_p.G225E|ZNF12_uc003sqs.1_Missense_Mutation_p.G349E NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 387 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GAAGGTTTTCCCACAGTCATG 0.428000 THSD7A 221981 broad.mit.edu 37 7 11675950 11675950 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:11675950G>A uc003ssf.3 - 2 1081 c.829C>T c.(829-831)CGC>TGC p.R277C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 277 Extracellular (Potential).|Potential. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCTTCCCGCGTCTCCTTGCT 0.537000 HNSCC(18;0.044) OSBPL3 26031 broad.mit.edu 37 7 24892163 24892163 + Missense_Mutation SNP G G C rs149871533 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:24892163G>C uc003sxf.2 - 11 1523 c.1118C>G c.(1117-1119)CCG>CGG p.P373R OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P373R|OSBPL3_uc003sxh.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxi.2_Missense_Mutation_p.P342R|OSBPL3_uc003sxj.1_Missense_Mutation_p.P138R|OSBPL3_uc003sxk.1_Missense_Mutation_p.P107R NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 373 lipid transport lipid binding|protein binding skin(1) 1 CTGAGCAGACGGGGAGGAGGA 0.483000 HOXA3 3200 broad.mit.edu 37 7 27147987 27147987 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:27147987C>T uc011jzl.1 - 3 1079 c.879G>A c.(877-879)TCG>TCA p.S293S HOXA3_uc011jzk.1_Silent_p.S135S|HOXA3_uc003syk.2_Silent_p.S293S NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 293 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 AGGGCGGGGGCGACTGGGGCT 0.706000 CDK13 8621 broad.mit.edu 37 7 40134196 40134196 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:40134196C>G uc003thh.3 + 14 4438 c.4156C>G c.(4156-4158)CAT>GAT p.H1386D CDK13_uc003thi.3_Missense_Mutation_p.H1326D|CDK13_uc003thj.2_Missense_Mutation_p.H437D|CDK13_uc003thk.2_Missense_Mutation_p.H319D NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1386 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TGCTTCATCTCATTCTGGTGG 0.443000 CACNA2D1 781 broad.mit.edu 37 7 82072713 82072713 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:82072713G>A uc003uhr.1 - 1 319 c.63C>T c.(61-63)CCC>CCT p.P21P NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 21 voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCTCCGACGAGGGGCCGATGA 0.483000 ZNF804B 219578 broad.mit.edu 37 7 88962859 88962859 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:88962859G>A uc011khi.1 + 4 1101 c.563G>A c.(562-564)CGA>CAA p.R188Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 188 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATGCCAAATCGACACCAATTA 0.413000 HNSCC(36;0.09) PIK3CG 5294 broad.mit.edu 37 7 106509085 106509085 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:106509085A>G uc003vdv.3 + 2 1164 c.1079A>G c.(1078-1080)AAG>AGG p.K360R PIK3CG_uc003vdu.2_Missense_Mutation_p.K360R|PIK3CG_uc003vdw.2_Missense_Mutation_p.K360R NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 360 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 TGCGACCGCAAGTTCAGGGTC 0.562000 LAMB1 3912 broad.mit.edu 37 7 107626654 107626654 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:107626654C>G uc003vew.2 - 6 913 c.578G>C c.(577-579)CGA>CCA p.R193P LAMB1_uc003vev.2_Missense_Mutation_p.R217P|LAMB1_uc003vex.2_Missense_Mutation_p.R193P|LAMB1_uc010ljn.1_Missense_Mutation_p.R279P NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 193 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCAGAATATCGAGAATCACA 0.403000 KCND2 3751 broad.mit.edu 37 7 119915591 119915591 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:119915591A>C uc003vjj.1 + 1 1870 c.905A>C c.(904-906)AAG>ACG p.K302T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 302 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) AGGATCTTTAAGTTTTCCCGC 0.527000 DGKI 9162 broad.mit.edu 37 7 137080436 137080436 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:137080436T>G uc003vtt.2 - 33 2990 c.2989A>C c.(2989-2991)ACT>CCT p.T997P DGKI_uc003vtu.2_Missense_Mutation_p.T666P NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 997 ANK 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TGCAGTGCAGTCTCACCCCTA 0.567000 KIAA1549 57670 broad.mit.edu 37 7 138602357 138602357 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:138602357A>G uc011kql.1 - 2 2064 c.2015T>C c.(2014-2016)TTG>TCG p.L672S KIAA1549_uc003vuk.3_Missense_Mutation_p.L622S|KIAA1549_uc011kqj.1_Missense_Mutation_p.L672S NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 672 Ser-rich. integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AGAGTCAAACAATGTAAATGT 0.488000 O BRAF pilocytic astrocytoma UBN2 254048 broad.mit.edu 37 7 138943256 138943256 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:138943256C>T uc011kqr.1 + 4 686 c.686C>T c.(685-687)TCT>TTT p.S229F UBN2_uc003vuv.2_5'UTR NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 229 ovary(1)|skin(1) 2 GTTCCCGCTTCTCTAACAACA 0.343000 CSMD1 64478 broad.mit.edu 37 8 3087591 3087591 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:3087591A>C uc011kwk.1 - 27 4709 c.4319T>G c.(4318-4320)TTT>TGT p.F1440C CSMD1_uc011kwj.1_Missense_Mutation_p.F832C|CSMD1_uc003wqe.2_Missense_Mutation_p.F596C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1440 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGTTGCCAAAAGAACCGGTT 0.468000 RP1L1 94137 broad.mit.edu 37 8 10469206 10469206 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:10469206T>C uc003wtc.2 - 4 2631 c.2402A>G c.(2401-2403)CAG>CGG p.Q801R NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 801 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGAGGAGGGCTGAGGCGTGTC 0.682000 PHYHIP 9796 broad.mit.edu 37 8 22079330 22079330 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:22079330C>T uc003xbk.3 - 6 1223 c.529G>A c.(529-531)GGT>AGT p.G177S PHYHIP_uc003xbj.3_Missense_Mutation_p.G177S NM_001099335 NP_001092805 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 177 0 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) TGGAGCATACCGCTGGTGGGG 0.657000 NEFM 4741 broad.mit.edu 37 8 24772194 24772194 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:24772194C>T uc003xed.3 + 1 921 c.888C>T c.(886-888)TAC>TAT p.Y296Y NEFM_uc011lac.1_Silent_p.Y296Y|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 296 Rod.|Coil 2B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AATGCCGCTACGCCAAGCTCA 0.607000 NEFM 4741 broad.mit.edu 37 8 24772258 24772258 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:24772258G>A uc003xed.3 + 1 985 c.952G>A c.(952-954)GCC>ACC p.A318T NEFM_uc011lac.1_Missense_Mutation_p.A318T|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 318 Rod.|Coil 2B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGAAGAGATCGCCGAGTACCG 0.642000 OPRK1 4986 broad.mit.edu 37 8 54142060 54142060 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:54142060A>C uc003xrh.1 - 3 1315 c.940T>G c.(940-942)TTC>GTC p.F314V OPRK1_uc003xri.1_Missense_Mutation_p.F314V|OPRK1_uc010lyc.1_Missense_Mutation_p.F225V NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 314 Helical; Name=7; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GCGATGCAGAAGTAATAGCTG 0.522000 OPRK1 4986 broad.mit.edu 37 8 54142218 54142218 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:54142218C>A uc003xrh.1 - 3 1157 c.782G>T c.(781-783)GGC>GTC p.G261V OPRK1_uc003xri.1_Missense_Mutation_p.G261V|OPRK1_uc010lyc.1_Missense_Mutation_p.G172V NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 261 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CTCTCGGGAGCCAGAAAGGAG 0.542000 PREX2 80243 broad.mit.edu 37 8 68968087 68968087 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:68968087A>C uc003xxv.1 + 10 1143 c.1116A>C c.(1114-1116)CAA>CAC p.Q372H PREX2_uc003xxu.1_Missense_Mutation_p.Q372H|PREX2_uc011lez.1_Missense_Mutation_p.Q307H NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 372 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GAATGGAGCAAGATACCTGGG 0.338000 TRPA1 8989 broad.mit.edu 37 8 72946496 72946496 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:72946496A>G uc003xza.2 - 22 2847 c.2672T>C c.(2671-2673)CTC>CCC p.L891P uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 891 Helical; Name=5; (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TAAATTCAGGAGGATGTAAAA 0.299000 PGCP 10404 broad.mit.edu 37 8 97797433 97797433 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:97797433T>G uc003yhw.2 + 2 474 c.308T>G c.(307-309)GTT>GGT p.V103G PGCP_uc010mbe.2_Missense_Mutation_p.V103G NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 103 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) CTGGAGAAAGTTCACCTGGAG 0.498000 RIMS2 9699 broad.mit.edu 37 8 104898096 104898096 + Silent SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:104898096T>A uc003yls.2 + 2 844 c.603T>A c.(601-603)TCT>TCA p.S201S RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 454 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S231S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACCAAGTTCTTATGCACAAA 0.478000 HNSCC(12;0.0054) CSMD3 114788 broad.mit.edu 37 8 113569030 113569030 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:113569030T>A uc003ynu.2 - 25 4355 c.4196A>T c.(4195-4197)GAG>GTG p.E1399V CSMD3_uc003yns.2_Missense_Mutation_p.E671V|CSMD3_uc003ynt.2_Missense_Mutation_p.E1359V|CSMD3_uc011lhx.1_Missense_Mutation_p.E1295V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1399 Extracellular (Potential).|Sushi 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGCCCTTCTCTCCCCTGTCAT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) PSCA 8000 broad.mit.edu 37 8 143763429 143763429 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:143763429T>G uc003ywu.2 + 3 306 c.251T>G c.(250-252)ATC>AGC p.I84S uc003ywt.1_5'Flank NM_005672 NP_005663 O43653 PSCA_HUMAN prostate stem cell antigen preproprotein 75 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AAGAAGAACATCACGTGCTGT 0.627000 ZNF517 340385 broad.mit.edu 37 8 146033211 146033211 + Missense_Mutation SNP C C T rs148736241 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr8:146033211C>T uc003zed.1 + 5 1017 c.910C>T c.(910-912)CTC>TTC p.L304F ZNF517_uc010mgd.1_Missense_Mutation_p.L210F|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L210F|ZNF517_uc003zef.1_Intron NM_213605 NP_998770 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 304 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) CAGGTTCACCCTCAACGAGCA 0.687000 GLIPR2 152007 broad.mit.edu 37 9 36147845 36147845 + Missense_Mutation SNP G G A rs139645817 byFrequency TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:36147845G>A uc003zyz.2 + 2 110 c.76G>A c.(76-78)GTC>ATC p.V26I GLIPR2_uc011lpj.1_Missense_Mutation_p.V26I|GLIPR2_uc010mlf.1_Missense_Mutation_p.V26I|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Missense_Mutation_p.V26I NM_022343 NP_071738 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 26 extracellular region|Golgi membrane skin(3)|central_nervous_system(1) 4 GAAGCACGGCGTCCCCCCACT 0.537000 DAPK1 1612 broad.mit.edu 37 9 90301573 90301573 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:90301573G>T uc004apc.2 + 21 2470 c.2332G>T c.(2332-2334)GTG>TTG p.V778L DAPK1_uc004apd.2_Missense_Mutation_p.V778L|DAPK1_uc011ltg.1_Missense_Mutation_p.V778L|DAPK1_uc011lth.1_Missense_Mutation_p.V515L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 778 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 GGAGGTGTTTGTGGCCCCGAC 0.592000 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of FGD3 89846 broad.mit.edu 37 9 95772662 95772662 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:95772662G>A uc004asw.2 + 7 1600 c.972G>A c.(970-972)GCG>GCA p.A324A FGD3_uc004asx.2_Silent_p.A324A|FGD3_uc004asz.2_Silent_p.A324A|FGD3_uc004ata.2_Silent_p.A127A NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 324 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GGAAGGATGCGGAGAGTGAGC 0.657000 WNK2 65268 broad.mit.edu 37 9 95997175 95997175 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:95997175G>A uc004ati.1 + 4 1161 c.1161G>A c.(1159-1161)CTG>CTA p.L387L WNK2_uc011lud.1_Silent_p.L387L|WNK2_uc004atj.2_Silent_p.L387L|WNK2_uc004atk.2_Silent_p.L24L|WNK2_uc010mrc.1_Silent_p.L387L|WNK2_uc010mrd.1_Silent_p.L24L NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 387 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 TGTGCATGCTGGAGATGGCCA 0.587000 PRPF4 9128 broad.mit.edu 37 9 116053021 116053021 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:116053021G>A uc004bgx.2 + 12 1240 c.1190G>A c.(1189-1191)GGA>GAA p.G397E PRPF4_uc004bgy.2_Missense_Mutation_p.G396E NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 397 WD 4. Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 CTACGCACAGGACGTTGTATC 0.413000 AKNA 80709 broad.mit.edu 37 9 117099370 117099370 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:117099370G>A uc004biq.3 - 21 4419 c.4284C>T c.(4282-4284)CGC>CGT p.R1428R AKNA_uc004bin.3_Silent_p.R675R|AKNA_uc004bio.3_Silent_p.R888R|AKNA_uc004bip.3_Silent_p.R1347R|AKNA_uc004bir.3_Silent_p.R1428R|AKNA_uc004bis.3_Silent_p.R1428R|AKNA_uc010mve.2_Silent_p.R1309R NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TGTGAGCCTGGCGCAGGTCGG 0.677000 DBC1 1620 broad.mit.edu 37 9 121971060 121971060 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:121971060C>T uc004bkc.2 - 7 1538 c.1082G>A c.(1081-1083)CGC>CAC p.R361H NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 361 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GAAAAGCTTGCGGGCAGTGCG 0.582000 GFI1B 8328 broad.mit.edu 37 9 135866288 135866288 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:135866288G>A uc004ccg.2 + 7 995 c.844G>A c.(844-846)GGA>AGA p.G282R GFI1B_uc010mzy.2_Missense_Mutation_p.G236R NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 282 C2H2-type 5.|Mediates interaction with GATA1.|Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CCAGGTGTGCGGAAAGGCCTT 0.647000 COL5A1 1289 broad.mit.edu 37 9 137693842 137693842 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:137693842G>C uc004cfe.2 + 38 3377 c.2995G>C c.(2995-2997)GTC>CTC p.V999L NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 999 Triple-helical 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) CCCCGGCGTGGTCGGCCCTCA 0.657000 LCN9 392399 broad.mit.edu 37 9 138556088 138556088 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:138556088C>T uc004cgk.1 + 2 177 c.177C>T c.(175-177)TTC>TTT p.F59F NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN lipocalin 9 59 extracellular region pheromone binding|transporter activity large_intestine(2) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) TGAGGGTCTTCGTCCGGAATA 0.468000 CAMSAP1 157922 broad.mit.edu 37 9 138707824 138707824 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr9:138707824T>C uc004cgr.3 - 15 4299 c.4299A>G c.(4297-4299)ATA>ATG p.I1433M CAMSAP1_uc004cgq.3_Missense_Mutation_p.I1323M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.I1155M NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1433 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TACGGCTCAGTATGGGCAGGG 0.617000 HEPH 9843 broad.mit.edu 37 X 65393489 65393489 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:65393489G>A uc011moz.1 + 4 540 c.480G>A c.(478-480)CCG>CCA p.P160P HEPH_uc004dwn.2_Silent_p.P160P|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.P160P|HEPH_uc011mpa.1_Silent_p.P160P NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 157 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CTGTTCCCCCGGGGGGCAGCC 0.532000 AR 367 broad.mit.edu 37 X 66905930 66905930 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:66905930G>A uc004dwu.1 + 3 2962 c.1847G>A c.(1846-1848)CGT>CAT p.R616H AR_uc011mpd.1_Missense_Mutation_p.R616H|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.R616H|AR_uc004dwv.1_Missense_Mutation_p.R84H NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 615 NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor. R -> H (in AIS and PAIS).|R -> P (in AIS).|Missing (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CCATCTTGTCGTCTTCGGAAA 0.313000 Androgen_Insensitivity_Syndrome MAGEE1 57692 broad.mit.edu 37 X 75650027 75650027 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:75650027C>A uc004ecm.1 + 1 1911 c.1704C>A c.(1702-1704)CCC>CCA p.P568P NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 568 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GACCTGTGCCCTTTGAAGGGT 0.493000 TEX13B 56156 broad.mit.edu 37 X 107225140 107225140 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:107225140G>A uc004enn.1 - 2 311 c.218C>T c.(217-219)GCC>GTC p.A73V NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 73 ovary(1) 1 CACACCCAAGGCCAGGCTGCC 0.622000 HTR2C 3358 broad.mit.edu 37 X 114141534 114141534 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:114141534A>G uc004epu.1 + 6 1661 c.933A>G c.(931-933)AAA>AAG p.K311K HTR2C_uc010nqc.1_Silent_p.K311K|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 311 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAGCTTCGAAAGTCCTTGGGA 0.438000 MAGEC2 51438 broad.mit.edu 37 X 141290910 141290910 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chrX:141290910C>T uc004fbu.1 - 3 1212 c.864G>A c.(862-864)GAG>GAA p.E288E NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 288 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGTGGGGCACCTCCCGATACT 0.507000 HNSCC(46;0.14) GBAS 2631 broad.mit.edu 37 7 56045959 56045962 + Splice_Site DEL GTGA GTGA - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:56045958_56045961TGTGA>T uc003tre.2 + 2 265 c.232_splice c.e2+1 p.F78_splice GBAS_uc003trf.2_Splice_Site_p.F78_splice NM_001483 NP_001474 O75323 NIPS2_HUMAN Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 78 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAAATTACAGTGTGAGTGACAGGT 0.368 DCDC2B 149069 broad.mit.edu 37 1 32680443 32680443 + Frame_Shift_Del DEL C C - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:32680443delC uc001bun.2 + 7 760 c.760delC c.(760-762)CCAfs p.P254fs C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 254 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TCCAAAGGAACCAGACCGAAT 0.562 RHBDD1 84236 broad.mit.edu 37 2 227773563 227773563 + Frame_Shift_Del DEL C C - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:227773563delC uc002voi.2 + 5 802 c.681delC c.(679-681)TACfs p.Y227fs RHBDD1_uc010fxc.2_Frame_Shift_Del_p.Y227fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.Y58fs NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 227 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) GTGTTGGTTACCCAGGACGGC 0.313 ARID1A 8289 broad.mit.edu 37 1 27100330 27100342 + Frame_Shift_Del DEL ACCCCTTCTGGCA ACCCCTTCTGGCA - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:27100329_27100341CACCCCTTCTGGCA>C uc001bmv.1 + 16 4414_4426 c.4041_4053CACCCCTTCTGGCA>C c.(4039-4053)ggcaccccttctggcfs p.G1347fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.G1346fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1347fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G964fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G193fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1347 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCACCCAAGGCACCCCTTCTGGCAGCCCCTTCC 0.535 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" OR10Z1 128368 broad.mit.edu 37 1 158576487 158576488 + Frame_Shift_Ins INS - - G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr1:158576486_158576487T>TG uc010pio.2 + 0 258_259 c.258_259T>TG c.(256-261)gctgggfs p.A86fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTGGCCTGGCTGGGGGGGACCA 0.554 NCL 4691 broad.mit.edu 37 2 232326259 232326264 + In_Frame_Del DEL TCATCG TCATCG - rs144748001 byFrequency TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr2:232326258_232326263CTCATCG>C uc002vru.3 - 2 742_747 c.601_606CGATGAG>G c.(601-606)gatgag>G p.DE201del SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN Homo sapiens nucleolin (NCL), mRNA. 201 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TACcatcttcctcatcgtcatcgtca 0.476 GBAS 2631 broad.mit.edu 37 7 56045959 56045962 + Splice_Site DEL GTGA GTGA - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr7:56045958_56045961TGTGA>T uc003tre.2 + 2 265 c.232_splice c.e2+1 p.F78_splice GBAS_uc003trf.2_Splice_Site_p.F78_splice NM_001483 NP_001474 O75323 NIPS2_HUMAN Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 78 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAAATTACAGTGTGAGTGACAGGT 0.368 PCDH15 65217 broad.mit.edu 37 10 55582575 55582576 + Frame_Shift_Del DEL CT CT - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr10:55582574_55582575CCT>C uc010qhy.1 - 34 5327_5328 c.4932_4933AGG>G c.(4930-4935)gaggaafs p.E1644fs PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc021pqz.1_Frame_Shift_Del_p.E1614fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.E1634fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.E1597fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.E1568fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.E1639fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.E1617fs|PCDH15_uc001jju.1_Frame_Shift_Del_p.E1637fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.E1614fs NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1637 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGCCTTATTTCCTCTTTCTCTG 0.401 HNSCC(58;0.16) MUC6 4588 broad.mit.edu 37 11 1017061 1017061 + Frame_Shift_Del DEL T T - rs71472140 TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr11:1017060_1017060GT>G uc001lsw.2 - 30 5792 c.5741_5741AC>C c.(5740-5742)actfs p.T1914fs NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1914 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGATGTAGAAGTTTTGGCCGT 0.552 DCLK1 9201 broad.mit.edu 37 13 36428642 36428643 + Frame_Shift_Ins INS - - CC TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr13:36428641_36428642G>GCC uc001uvf.3 - 5 1312_1313 c.1029_1030C>GGC c.(1027-1032)aagcagfs p.K343fs MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Ins_p.K36fs|DCLK1_uc010teh.2_Frame_Shift_Ins_p.K36fs|DCLK1_uc010abk.3_Frame_Shift_Ins_p.K36fs|DCLK1_uc001uvh.4_Frame_Shift_Ins_p.K36fs NM_004734 NP_004725 O15075 DCLK1_HUMAN Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA. 343 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity p.R342W(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTTACCCTCTGCTTCCGCAGGC 0.550 TRAF3 7187 broad.mit.edu 37 14 103371673 103371673 + Frame_Shift_Del DEL G G - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr14:103371672_103371672TG>T uc001ymc.2 + 11 1611 c.1258_1258TG>T c.(1258-1260)tggfs p.W420fs TRAF3_uc001ymd.2_Frame_Shift_Del_p.W420fs|TRAF3_uc001yme.2_Frame_Shift_Del_p.W395fs|TRAF3_uc010txy.2_Frame_Shift_Del_p.W337fs NM_145725 NP_663777 Q13114 TRAF3_HUMAN Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA. 420 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGTGCTCATCTGGAAGATTCG 0.572 SMCHD1 23347 broad.mit.edu 37 18 2705786 2705787 + Frame_Shift_Ins INS - - T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr18:2705785_2705786G>GT uc002klm.4 + 13 2125_2126 c.1936_1937G>GT c.(1936-1938)ggafs p.G646fs SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 646 chromosome organization ATP binding p.G646E(2)|p.G94E(1) NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGCTACAGGAGGAGAGGTTCAA 0.342 MUC16 94025 broad.mit.edu 37 19 9064484 9064485 + Frame_Shift_Ins INS - - A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr19:9064483_9064484G>GA uc002mkp.3 - 2 23166_23167 c.22962_22963C>TC c.(22960-22965)attcagfs p.I7654fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7656 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAATCCCTGAATTACTATAG 0.505 DMC1 11144 broad.mit.edu 37 22 38935402 38935403 + Frame_Shift_Ins INS - - A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 g.chr22:38935401_38935402T>TA uc003avz.1 - 8 685_686 c.510_511A>TA c.(508-513)cttaggfs p.L170fs DMC1_uc011anv.1_Intron NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 170 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding p.R169G(1) large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) GCAATGTCCCTAAGGCGATCTG 0.411 Homologous recombination