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 UBE2J2 118424 broad.mit.edu 37 1 1203290 1203290 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:1203290G>A uc001adn.2 - 2 393 c.83C>T c.(82-84)CCG>CTG p.P28L UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Missense_Mutation_p.P28L|UBE2J2_uc001adp.2_Missense_Mutation_p.P28L|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 28 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) GTAAGGCACCGGGTCTTTCTT 0.582000 PRAMEF20 645425 broad.mit.edu 37 1 13743092 13743092 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:13743092G>A uc009voa.1 + 2 380 c.281G>A c.(280-282)CGT>CAT p.R94H NM_001099852 NP_001093322 Q5VT98 PRA20_HUMAN PRAME family member 20 94 ovary(1) 1 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;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACAGGGTTCGTCTCAGGTGA 0.607000 UBR4 23352 broad.mit.edu 37 1 19451145 19451145 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:19451145G>C uc001bbi.2 - 65 9482 c.9478C>G c.(9478-9480)CTA>GTA p.L3160V UBR4_uc001bbk.1_Missense_Mutation_p.L807V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3160 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATTTCTGTTAGAAGCTGAGTA 0.428000 ZBTB40 9923 broad.mit.edu 37 1 22837716 22837716 + Silent SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:22837716G>C uc001bft.2 + 11 2389 c.1878G>C c.(1876-1878)CTG>CTC p.L626L ZBTB40_uc001bfu.2_Silent_p.L626L|ZBTB40_uc009vqi.1_Silent_p.L514L|ZBTB40_uc001bfv.1_Silent_p.L255L NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 626 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAGCTTCCCTGAGAGCAGTGC 0.507000 HCRTR1 3061 broad.mit.edu 37 1 32085185 32085185 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:32085185C>A uc009vtx.2 + 4 637 c.252C>A c.(250-252)TTC>TTA p.F84L HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.F84L|HCRTR1_uc010ogl.1_Missense_Mutation_p.F84L NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 84 Helical; Name=2; (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CCAACTACTTCATTGTCAACC 0.612000 KIAA0467 23334 broad.mit.edu 37 1 43891237 43891237 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:43891237A>C uc001cjk.1 + 5 674 c.212A>C c.(211-213)CAG>CCG p.Q71P KIAA0467_uc009vws.1_Missense_Mutation_p.Q913P NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 913 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGGAGCCACAGTATGGGCGA 0.557000 DMAP1 55929 broad.mit.edu 37 1 44684006 44684006 + Silent SNP G G A rs145462822 byFrequency TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:44684006G>A uc001clq.1 + 5 497 c.417G>A c.(415-417)TCG>TCA p.S139S DMAP1_uc010okt.1_Missense_Mutation_p.R178Q|DMAP1_uc001clr.1_Silent_p.S139S|DMAP1_uc001cls.1_Silent_p.S139S|DMAP1_uc010oku.1_Intron NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 139 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CTGTGTACTCGGAGCAGGAGT 0.562000 OREG0013437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NFIA 4774 broad.mit.edu 37 1 61824865 61824865 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:61824865G>C uc001czw.2 + 6 1349 c.865G>C c.(865-867)GGT>CGT p.G289R NFIA_uc001czy.2_Missense_Mutation_p.G281R|NFIA_uc010oos.1_Missense_Mutation_p.G334R|NFIA_uc001czv.2_Missense_Mutation_p.G289R NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 289 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 GGACAGTCCTGGTGAGGAGCC 0.517000 NEGR1 257194 broad.mit.edu 37 1 72163810 72163810 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:72163810T>G uc001dfw.2 - 4 648 c.548A>C c.(547-549)GAA>GCA p.E183A NEGR1_uc001dfv.2_Missense_Mutation_p.E55A|NEGR1_uc010oqs.1_Intron NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 183 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TTGTCCATTTTCAAATGGTTT 0.373000 LPHN2 23266 broad.mit.edu 37 1 82436124 82436124 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:82436124A>G uc001dit.3 + 15 2990 c.2809A>G c.(2809-2811)AAA>GAA p.K937E LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.K937E|LPHN2_uc001div.2_Missense_Mutation_p.K937E|LPHN2_uc009wcd.2_Missense_Mutation_p.K937E|LPHN2_uc001diw.2_Missense_Mutation_p.K521E|LPHN2_uc009wce.1_Missense_Mutation_p.K23E NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 950 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATATTCAAGGAAAAAATATTA 0.378000 HSD3B1 3283 broad.mit.edu 37 1 120056814 120056814 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:120056814C>T uc001ehv.1 + 4 813 c.668C>T c.(667-669)CCA>CTA p.P223L HSD3B1_uc001ehw.2_Missense_Mutation_p.P225L NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 223 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ACTGTTAACCCAGTCTATGTT 0.517000 PIP5K1A 8394 broad.mit.edu 37 1 151211637 151211637 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:151211637G>T uc001exj.2 + 11 1713 c.1261G>T c.(1261-1263)GCC>TCC p.A421S PIP5K1A_uc001exi.2_Missense_Mutation_p.A408S|PIP5K1A_uc010pcu.1_Missense_Mutation_p.A381S|PIP5K1A_uc001exk.2_Missense_Mutation_p.A408S|PIP5K1A_uc010pcv.1_Missense_Mutation_p.A178S NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 421 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) CTCTTGGAAAGCCCTGGTACA 0.373000 LCE1A 353131 broad.mit.edu 37 1 152800031 152800031 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:152800031A>C uc010pdw.1 + 1 83 c.83A>C c.(82-84)AAG>ACG p.K28T NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 28 Cys-rich. keratinization ovary(1)|skin(1) 2 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) cccactcctaagtgcccccca 0.423000 PMVK 10654 broad.mit.edu 37 1 154904868 154904868 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:154904868A>C uc001ffq.2 - 2 442 c.119T>G c.(118-120)GTC>GGC p.V40G NM_006556 NP_006547 Q15126 PMVK_HUMAN phosphomevalonate kinase 40 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding 0 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) GAGCCGGAGGACAGCACAGAC 0.532000 BCAN 63827 broad.mit.edu 37 1 156622677 156622677 + Silent SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:156622677C>A uc001fpp.2 + 8 2271 c.1935C>A c.(1933-1935)CCC>CCA p.P645P BCAN_uc001fpo.2_Silent_p.P645P NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 645 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCGTGGTCCCCGCATCAGGTA 0.587000 OR10K2 391107 broad.mit.edu 37 1 158390187 158390187 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158390187T>G uc010pii.1 - 1 470 c.470A>C c.(469-471)CAG>CCG p.Q157P NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TGTGATGATCTGTGCAACAGT 0.493000 OR10K2 391107 broad.mit.edu 37 1 158390391 158390391 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158390391T>G uc010pii.1 - 1 266 c.266A>C c.(265-267)AAG>ACG p.K89T NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AATGGTCTTCTTCTGGGACAG 0.483000 OR10K1 391109 broad.mit.edu 37 1 158435416 158435416 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158435416G>T uc010pij.1 + 1 65 c.65G>T c.(64-66)AGG>ATG p.R22M NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCCCTGGCCAGGCTGCAGCAG 0.517000 OR10Z1 128368 broad.mit.edu 37 1 158576978 158576978 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158576978T>C uc010pio.1 + 1 750 c.750T>C c.(748-750)ATT>ATC p.I250I NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGGTCATTATTCATTATGGCT 0.522000 SPTA1 6708 broad.mit.edu 37 1 158583547 158583547 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158583547T>C uc001fst.1 - 50 7152 c.6953A>G c.(6952-6954)AAG>AGG p.K2318R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2318 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTCTCAAACTTGGGCTCATG 0.537000 SPTA1 6708 broad.mit.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158606546T>G uc001fst.1 - 37 5394 c.5195A>C c.(5194-5196)AAG>ACG p.K1732T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1732 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCGTATCAACTTCTCCCTAAA 0.473000 SPTA1 6708 broad.mit.edu 37 1 158615013 158615013 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158615013G>A uc001fst.1 - 29 4358 c.4159C>T c.(4159-4161)CGC>TGC p.R1387C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1387 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCTTCTTGCGTTTTTCCCAA 0.433000 SPTA1 6708 broad.mit.edu 37 1 158651331 158651331 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158651331A>G uc001fst.1 - 4 716 c.517T>C c.(517-519)TGG>CGG p.W173R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 173 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTCCAATCCACTCTAAGATG 0.522000 PYHIN1 149628 broad.mit.edu 37 1 158908331 158908331 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:158908331A>G uc001ftb.2 + 3 655 c.410A>G c.(409-411)CAG>CGG p.Q137R PYHIN1_uc001fta.3_Missense_Mutation_p.Q137R|PYHIN1_uc001ftc.2_Missense_Mutation_p.Q128R|PYHIN1_uc001ftd.2_Missense_Mutation_p.Q137R|PYHIN1_uc001fte.2_Missense_Mutation_p.Q128R NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 137 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CTTGGACCTCAGGTAAGCTTC 0.488000 FCER1A 2205 broad.mit.edu 37 1 159276003 159276003 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:159276003A>G uc001ftq.2 + 5 656 c.557A>G c.(556-558)GAG>GGG p.E186G NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 186 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTGGACTATGAGTCTGAGCCC 0.458000 OR10J1 26476 broad.mit.edu 37 1 159410501 159410501 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:159410501A>C uc010piv.1 + 1 953 c.953A>C c.(952-954)AAG>ACG p.K318T uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 318 Cytoplasmic (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) GTTGGTGGGAAGTTTTCCTGA 0.488000 APCS 325 broad.mit.edu 37 1 159558396 159558396 + Silent SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:159558396T>A uc001ftv.2 + 2 666 c.570T>A c.(568-570)TCT>TCA p.S190S NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 190 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) ATATCCTGTCTGCCTATCAGG 0.502000 VANGL2 57216 broad.mit.edu 37 1 160394940 160394940 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:160394940T>C uc001fwb.1 + 9 1637 c.1338T>C c.(1336-1338)CCT>CCC p.P446P VANGL2_uc001fwc.1_Silent_p.P446P NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 446 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGGCTGGACCTACCATCCAGT 0.557000 HMCN1 83872 broad.mit.edu 37 1 185992242 185992242 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:185992242C>A uc001grq.1 + 36 5935 c.5706C>A c.(5704-5706)AAC>AAA p.N1902K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1902 Ig-like C2-type 16. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGGCTACCAACGCAGCTGGAG 0.388000 CFH 3075 broad.mit.edu 37 1 196684839 196684839 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:196684839A>C uc001gtj.3 + 11 1876 c.1636A>C c.(1636-1638)AGC>CGC p.S546R NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 546 Sushi 9. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CAATACTGGAAGCACCACTGG 0.264000 NAV1 89796 broad.mit.edu 37 1 201752711 201752711 + Silent SNP G G A rs144457633 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:201752711G>A uc001gwu.2 + 7 2882 c.2535G>A c.(2533-2535)CCG>CCA p.P845P NAV1_uc001gwv.1_Silent_p.P353P|NAV1_uc001gww.1_Silent_p.P454P|NAV1_uc001gwx.2_Silent_p.P454P|NAV1_uc001gwy.1_Silent_p.P226P NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 845 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CCCCCAGTCCGGCACCCATCC 0.547000 KLHL12 59349 broad.mit.edu 37 1 202861698 202861698 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:202861698C>T uc001gyo.1 - 12 1870 c.1670G>A c.(1669-1671)CGC>CAC p.R557H KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.R595H NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 557 Kelch 6.|Interaction with DVL3. Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) AGCATCACAGCGCTGGGTTCC 0.493000 CD34 947 broad.mit.edu 37 1 208061155 208061155 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:208061155G>A uc001hgw.1 - 8 1344 c.1086C>T c.(1084-1086)AAC>AAT p.N362N CD34_uc001hgv.1_Silent_p.N204N|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.N227N NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 362 Cytoplasmic (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 GGCCGGTCCCGTTTTCCTGAG 0.607000 AIDA 64853 broad.mit.edu 37 1 222849460 222849460 + Silent SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:222849460G>C uc001hnn.2 - 7 766 c.561C>G c.(559-561)CCC>CCG p.P187P AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Silent_p.P163P NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 187 Axin-binding (By similarity). dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 CTGTAATATAGGGATCGATGC 0.363000 C1orf55 163859 broad.mit.edu 37 1 226180108 226180108 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:226180108C>T uc001hpu.3 - 4 564 c.511G>A c.(511-513)GTC>ATC p.V171I C1orf55_uc001hpv.2_Missense_Mutation_p.V171I NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 171 lung(1) 1 Breast(184;0.197) CCTTTGAGGACGGAATCCTCC 0.527000 OBSCN 84033 broad.mit.edu 37 1 228434396 228434396 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:228434396G>A uc009xez.1 + 13 3969 c.3925G>A c.(3925-3927)GCG>ACG p.A1309T OBSCN_uc001hsn.2_Missense_Mutation_p.A1309T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1309 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CATAGAGGCTGCGGGCTGCAT 0.637000 EGLN1 54583 broad.mit.edu 37 1 231556836 231556836 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:231556836C>T uc001huv.2 - 1 3955 c.799G>A c.(799-801)GAA>AAA p.E267K EGLN1_uc001huu.3_5'Flank NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN egl nine homolog 1 267 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding 0 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CCAATGGTTTCGCAGCCGGGC 0.567000 DISC1 27185 broad.mit.edu 37 1 231954086 231954086 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:231954086T>C uc001huz.2 + 9 1857 c.1804T>C c.(1804-1806)TGG>CGG p.W602R TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.W591R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.W557R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.W557R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.W591R|TSNAX-DISC1_uc010pwk.1_Silent_p.S556S|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwr.1_Missense_Mutation_p.W602R|DISC1_uc010pws.1_Silent_p.S567S|DISC1_uc010pwt.1_Missense_Mutation_p.L549P|DISC1_uc010pwu.1_Missense_Mutation_p.L199P|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.W602R|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.W602R|DISC1_uc010pxb.1_Missense_Mutation_p.W602R|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Missense_Mutation_p.W247R|DISC1_uc010pxe.1_Missense_Mutation_p.W602R|DISC1_uc009xfr.2_Missense_Mutation_p.W557R|DISC1_uc010pxf.1_Missense_Mutation_p.W602R|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Missense_Mutation_p.W634R|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.W247R|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.W480R|DISC1_uc010pxn.1_Missense_Mutation_p.W247R|DISC1_uc001hva.2_Missense_Mutation_p.W602R|DISC2_uc001hvd.2_RNA NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 602 Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) AAACCATTTCTGGACGGCTAA 0.473000 SIPA1L2 57568 broad.mit.edu 37 1 232561464 232561464 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:232561464A>G uc001hvg.2 - 16 4659 c.4501T>C c.(4501-4503)TTT>CTT p.F1501L SIPA1L2_uc001hvf.2_Missense_Mutation_p.F575L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1501 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GAACTGCCAAAGGAGGACCCC 0.597000 FMN2 56776 broad.mit.edu 37 1 240555824 240555824 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:240555824A>C uc010pyd.1 + 15 5097 c.4872A>C c.(4870-4872)CAA>CAC p.Q1624H FMN2_uc010pye.1_Missense_Mutation_p.Q1628H|FMN2_uc010pyf.1_Missense_Mutation_p.Q239H|FMN2_uc010pyg.1_Missense_Mutation_p.Q220H NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1624 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAATTGACCAAGAGGCAGAGG 0.343000 OR2L2 26246 broad.mit.edu 37 1 248201578 248201578 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:248201578T>G uc001idw.2 + 1 105 c.9T>G c.(7-9)AAT>AAG p.N3K OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCATGGAAAATTACAATCAAA 0.299000 OR2T4 127074 broad.mit.edu 37 1 248525557 248525557 + Silent SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr1:248525557A>C uc001ieh.1 + 1 675 c.675A>C c.(673-675)TCA>TCC p.S225S NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 225 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGACACCTCACTCTATGAGA 0.483000 PTCHD3 374308 broad.mit.edu 37 10 27703150 27703150 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:27703150C>T uc001itu.2 - 1 148 c.30G>A c.(28-30)CCG>CCA p.P10P NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 10 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GCTCCGGCCCCGGCCTGGGCT 0.622000 ANKRD30A 91074 broad.mit.edu 37 10 37421204 37421204 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:37421204A>G uc001iza.1 + 4 478 c.379A>G c.(379-381)AGA>GGA p.R127G NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 183 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CATAACGAAAAGAAGTGAGCA 0.289000 PCDH15 65217 broad.mit.edu 37 10 55581852 55581852 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:55581852T>G uc001jju.1 - 33 6029 c.5634A>C c.(5632-5634)GAA>GAC p.E1878D PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E732D|PCDH15_uc010qhv.1_Missense_Mutation_p.E1875D|PCDH15_uc010qhw.1_Missense_Mutation_p.E1838D|PCDH15_uc010qhx.1_Missense_Mutation_p.E1809D|PCDH15_uc010qhy.1_Missense_Mutation_p.E1885D|PCDH15_uc010qhz.1_Missense_Mutation_p.E1880D|PCDH15_uc010qia.1_Missense_Mutation_p.E1858D|PCDH15_uc010qib.1_Missense_Mutation_p.E1855D NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1878 Cytoplasmic (Potential). 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 pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGCCTTTTGGTTCTCTCTGAG 0.393000 HNSCC(58;0.16) DDX50 79009 broad.mit.edu 37 10 70666568 70666568 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:70666568A>G uc001jou.2 + 2 296 c.189A>G c.(187-189)AAA>AAG p.K63K DDX50_uc001jot.2_Silent_p.K63K|DDX50_uc010qjc.1_Silent_p.K63K NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 63 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 AGGCCAAAAAATCTAAAATGA 0.378000 GRID1 2894 broad.mit.edu 37 10 87489289 87489289 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:87489289A>G uc001kdl.1 - 9 1417 c.1316T>C c.(1315-1317)CTT>CCT p.L439P GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.L10P NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 439 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CACCACTTTAAGAGTCAATCC 0.512000 Multiple Myeloma(13;0.14) AGAP11 119385 broad.mit.edu 37 10 88768495 88768495 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:88768495G>T uc001kee.2 + 12 1690 c.486G>T c.(484-486)ATG>ATT p.M162I AGAP11_uc001kef.2_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase 162 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GTGATTATATGAAGAATATTC 0.443000 CC2D2B 387707 broad.mit.edu 37 10 97791581 97791581 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:97791581C>T uc001kll.2 + 9 984 c.785C>T c.(784-786)ACG>ATG p.T262M uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.T341M|uc009xvb.1_Intron NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 262 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) ATCCAGGTCACGGGATTTCCC 0.388000 INA 9118 broad.mit.edu 37 10 105037931 105037931 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:105037931G>A uc001kws.2 + 1 1012 c.963G>A c.(961-963)GCG>GCA p.A321A uc001kwr.2_5'Flank|INA_uc009xxj.2_Silent_p.A321A NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 321 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) AGCTGCAGGCGCGCACCATCG 0.677000 SORCS1 114815 broad.mit.edu 37 10 108923912 108923912 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:108923912T>C uc001kym.2 - 1 381 c.373A>G c.(373-375)AGT>GGT p.S125G SORCS1_uc001kyl.2_Missense_Mutation_p.S125G|SORCS1_uc009xxs.2_Missense_Mutation_p.S125G|SORCS1_uc001kyn.1_Missense_Mutation_p.S125G|SORCS1_uc001kyo.2_Missense_Mutation_p.S125G NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 125 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GGGCTCCGACTCGCGCCCTCT 0.701000 C10orf96 374355 broad.mit.edu 37 10 118137945 118137945 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:118137945G>C uc001lck.2 + 8 915 c.664G>C c.(664-666)GAA>CAA p.E222Q NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 222 ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) ACTTAAAAAAGAATTAGAACT 0.279000 PRLHR 2834 broad.mit.edu 37 10 120353892 120353892 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:120353892C>T uc001ldp.1 - 2 1004 c.865G>A c.(865-867)GTC>ATC p.V289I NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 289 Helical; Name=6; (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) AGCCAGCAGACGGCGAACACC 0.692000 CPXM2 119587 broad.mit.edu 37 10 125506504 125506504 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:125506504T>C uc001lhk.1 - 14 2372 c.2047A>G c.(2047-2049)AAC>GAC p.N683D CPXM2_uc001lhj.2_Intron NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 683 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCTCCAGGGTTCAGGAGGCGC 0.537000 C10orf137 26098 broad.mit.edu 37 10 127438041 127438041 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:127438041G>T uc001liq.1 + 22 3477 c.3184G>T c.(3184-3186)GCC>TCC p.A1062S C10orf137_uc001lio.1_Missense_Mutation_p.A1028S|C10orf137_uc001lip.1_Missense_Mutation_p.A766S|C10orf137_uc001lis.1_Missense_Mutation_p.A388S|C10orf137_uc001lit.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 1062 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTACAGCAAGGCCGCAAAGCT 0.463000 EBF3 253738 broad.mit.edu 37 10 131666103 131666103 + Silent SNP G G A rs149960200 by1000genomes TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr10:131666103G>A uc001lki.1 - 9 887 c.828C>T c.(826-828)GGC>GGT p.G276G NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 285 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AGAAGTTGTCGCCAATTATGA 0.567000 MUC5B 727897 broad.mit.edu 37 11 1270309 1270309 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:1270309T>C uc009ycr.1 + 51 13744 c.13618T>C c.(13618-13620)TCC>CCC p.S4540P MUC5B_uc001ltb.2_Missense_Mutation_p.S4070P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4067 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCAGCCCTGTCCAGCCCTCA 0.687000 IGF2 3481 broad.mit.edu 37 11 2154256 2154256 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:2154256G>A uc009yde.2 - 4 607 c.504C>T c.(502-504)CAC>CAT p.H168H IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Silent_p.H168H|IGF2_uc009ydf.2_Silent_p.H224H|IGF2_uc001lvh.2_Silent_p.H168H|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 168 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GGGCGCCCCCGTGGGCGGGGT 0.682000 OR52R1 119695 broad.mit.edu 37 11 4825639 4825639 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:4825639A>G uc010qym.1 - 1 209 c.209T>C c.(208-210)GTT>GCT p.V70A NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGCTGGGAACGCAATCTAC 0.458000 OR52N4 390072 broad.mit.edu 37 11 5776163 5776163 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:5776163T>C uc001mbu.2 + 1 241 c.193T>C c.(193-195)TTG>CTG p.L65L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GTACTACTTCTTGGCCATGCT 0.448000 MRVI1 10335 broad.mit.edu 37 11 10648081 10648081 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:10648081A>G uc010rcc.1 - 9 1186 c.800T>C c.(799-801)GTG>GCG p.V267A MRVI1_uc001miw.2_Missense_Mutation_p.V258A|MRVI1_uc010rcb.1_Missense_Mutation_p.V259A|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.V176A|MRVI1_uc009ygc.1_Missense_Mutation_p.V176A|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 240 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCCCTGAGACACTTTCCTCTG 0.532000 LRRC4C 57689 broad.mit.edu 37 11 40137506 40137506 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:40137506T>C uc001mxa.1 - 2 2301 c.337A>G c.(337-339)AGA>GGA p.R113G LRRC4C_uc001mxc.1_Missense_Mutation_p.R109G|LRRC4C_uc001mxd.1_Missense_Mutation_p.R109G|LRRC4C_uc001mxb.1_Missense_Mutation_p.R109G NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 113 LRR 2. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAATGGTTCTGATATGGTTC 0.438000 CKAP5 9793 broad.mit.edu 37 11 46774965 46774965 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:46774965A>C uc001ndi.1 - 37 5062 c.4952T>G c.(4951-4953)CTG>CGG p.L1651R CKAP5_uc009ylg.1_Missense_Mutation_p.L1537R|CKAP5_uc001ndj.1_Missense_Mutation_p.L1591R|CKAP5_uc001ndh.1_Missense_Mutation_p.L580R NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1651 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CCGAGAATCCAGCATTAAGGT 0.493000 LRP4 4038 broad.mit.edu 37 11 46890212 46890212 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:46890212G>A uc001ndn.3 - 33 5036 c.4890C>T c.(4888-4890)GCC>GCT p.A1630A uc001ndl.2_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1630 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CCGAGGCTCTGGCAAAGCAGA 0.567000 OR5D16 390144 broad.mit.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:55606243A>G uc010rio.1 + 1 16 c.16A>G c.(16-18)AGA>GGA p.R6G NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TCTGACAGAGAGAAATACGAC 0.413000 TCN1 6947 broad.mit.edu 37 11 59626717 59626717 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:59626717C>T uc001noj.2 - 5 678 c.580G>A c.(580-582)GCT>ACT p.A194T NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 194 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGGTCAGAGCCAGGACAGCC 0.294000 MS4A2 2206 broad.mit.edu 37 11 59857259 59857259 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:59857259C>A uc001nop.2 + 2 253 c.151C>A c.(151-153)CTG>ATG p.L51M MS4A2_uc009ymu.2_Missense_Mutation_p.L51M NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 51 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) GCATACATGGCTGACAGTTTT 0.473000 B3GAT3 26229 broad.mit.edu 37 11 62383980 62383980 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:62383980G>A uc001ntw.2 - 4 936 c.907C>T c.(907-909)CGG>TGG p.R303W B3GAT3_uc009ynz.2_Missense_Mutation_p.R296W|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.R303W NM_012200 NP_036332 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 303 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding 0 TCCCTTACCCGAGTGCAGTTG 0.562000 SNX32 254122 broad.mit.edu 37 11 65617659 65617659 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:65617659G>A uc001ofr.2 + 4 418 c.291G>A c.(289-291)TCG>TCA p.S97S SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.R137Q NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 97 PX. cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) TTGAGGCTTCGAGGGAAAAGC 0.602000 PITPNM1 9600 broad.mit.edu 37 11 67260437 67260437 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:67260437G>A uc001olx.2 - 22 3628 c.3439C>T c.(3439-3441)CGT>TGT p.R1147C PITPNM1_uc001olw.2_Missense_Mutation_p.R429C|PITPNM1_uc001oly.2_Missense_Mutation_p.R1147C|PITPNM1_uc001olz.2_Missense_Mutation_p.R1146C NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 1147 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 CGCACGGCACGGCCCACGATG 0.647000 UVRAG 7405 broad.mit.edu 37 11 75851978 75851978 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:75851978G>A uc001oxc.2 + 15 1862 c.1621G>A c.(1621-1623)GAG>AAG p.E541K UVRAG_uc010rrw.1_Missense_Mutation_p.E440K|UVRAG_uc001oxd.2_Missense_Mutation_p.E169K|UVRAG_uc010rrx.1_Missense_Mutation_p.E169K|UVRAG_uc010rry.1_Missense_Mutation_p.E97K NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 541 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 GGGAGAGACCGAGAGAAAGAT 0.488000 DSCAML1 57453 broad.mit.edu 37 11 117332215 117332215 + Silent SNP G G A rs145257382 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:117332215G>A uc001prh.1 - 18 3545 c.3543C>T c.(3541-3543)GGC>GGT p.G1181G NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1121 Fibronectin type-III 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTTTGAGGACGCCATTGAGGG 0.632000 C11orf63 79864 broad.mit.edu 37 11 122756770 122756770 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:122756770C>T uc001pym.2 + 2 510 c.213C>T c.(211-213)CCC>CCT p.P71P C11orf63_uc001pyl.1_Silent_p.P71P NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 71 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GTATGGAGCCCGACAGCTTAG 0.512000 PARP11 57097 broad.mit.edu 37 12 3923335 3923335 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:3923335T>C uc001qmk.1 - 6 602 c.547A>G c.(547-549)AAA>GAA p.K183E PARP11_uc001qml.2_Missense_Mutation_p.K190E|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.K109E|PARP11_uc001qmn.2_Missense_Mutation_p.K109E NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 183 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) CCTCTTTTTTTCTTGAGCTGA 0.348000 ANO2 57101 broad.mit.edu 37 12 5908717 5908717 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:5908717C>T uc001qnm.2 - 10 1071 c.999G>A c.(997-999)GCG>GCA p.A333A NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 338 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CTCCATAGCGCGCCCATTCTT 0.418000 KLRG1 10219 broad.mit.edu 37 12 9162086 9162086 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:9162086A>G uc001qvh.2 + 5 534 c.523A>G c.(523-525)AGC>GGC p.S175G KLRG1_uc001qvg.2_Missense_Mutation_p.S175G NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 175 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 TCAAGCCTCAAGCTGTGAAGT 0.433000 A2M 2 broad.mit.edu 37 12 9231846 9231846 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:9231846T>G uc001qvk.1 - 25 3226 c.3113A>C c.(3112-3114)AAC>ACC p.N1038T A2M_uc001qvj.1_Missense_Mutation_p.N80T|A2M_uc009zgk.1_Missense_Mutation_p.N888T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1038 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TTACCAGGTGTTGCCCTGGTT 0.284000 CLEC12A 160364 broad.mit.edu 37 12 10133243 10133243 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:10133243A>C uc001qwr.3 + 4 630 c.442A>C c.(442-444)AGT>CGT p.S148R CLEC12A_uc001qwq.2_Missense_Mutation_p.S158R|CLEC12A_uc001qws.3_Missense_Mutation_p.S115R|CLEC12A_uc001qwt.2_Missense_Mutation_p.S77R NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 148 Extracellular (Potential).|C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 TTATTTCCTAAGTGATGATGT 0.413000 LRRK2 120892 broad.mit.edu 37 12 40657648 40657648 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:40657648A>C uc001rmg.3 + 14 1722 c.1601A>C c.(1600-1602)AAA>ACA p.K534T LRRK2_uc001rmh.1_Missense_Mutation_p.K156T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 534 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AATATGGTTAAAAAACAGTGT 0.294000 SLC38A4 55089 broad.mit.edu 37 12 47186787 47186787 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:47186787G>T uc001rpi.2 - 3 467 c.68C>A c.(67-69)GCT>GAT p.A23D SLC38A4_uc001rpj.2_Missense_Mutation_p.A23D|SLC38A4_uc009zkl.2_Missense_Mutation_p.A23D NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 23 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) GCTATCTGGAGCACTTTCTCC 0.433000 KRT84 3890 broad.mit.edu 37 12 52774882 52774882 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:52774882A>C uc001sah.1 - 6 1233 c.1185T>G c.(1183-1185)ATT>ATG p.I395M NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 395 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGCGTGCTCAATCTCTGCCT 0.557000 TENC1 23371 broad.mit.edu 37 12 53457541 53457541 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:53457541G>A uc001sbp.2 + 29 4240 c.4105G>A c.(4105-4107)GTG>ATG p.V1369M TENC1_uc001sbl.2_Missense_Mutation_p.V1245M|TENC1_uc001sbn.2_Missense_Mutation_p.V1379M|TENC1_uc001sbq.2_Missense_Mutation_p.V767M|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.V862M|TENC1_uc001sbs.2_Missense_Mutation_p.V188M NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 1369 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CTTTGGTTTCGTGGCCAAGAA 0.537000 STAT6 6778 broad.mit.edu 37 12 57501478 57501478 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:57501478G>A uc009zpe.2 - 3 416 c.165C>T c.(163-165)GCC>GCT p.A55A STAT6_uc009zpf.2_Silent_p.A55A|STAT6_uc001sna.2_Silent_p.A55A|STAT6_uc010srb.1_5'UTR|STAT6_uc010src.1_Intron|STAT6_uc010srd.1_Intron|STAT6_uc009zpg.2_Silent_p.A104A NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 55 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 CTGAAAGTAGGGCACTAGCCA 0.612000 LRP1 4035 broad.mit.edu 37 12 57554830 57554830 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:57554830C>T uc001snd.2 + 13 2600 c.2134C>T c.(2134-2136)CGC>TGC p.R712C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 712 LDL-receptor class B 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCGGCTGGGCGCCTCTACTG 0.597000 ACSS3 79611 broad.mit.edu 37 12 81593201 81593201 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:81593201C>T uc001szl.1 + 9 1423 c.1332C>T c.(1330-1332)GTC>GTT p.V444V ACSS3_uc001szm.1_Silent_p.V443V|ACSS3_uc001szn.1_Silent_p.V126V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 444 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GAGTACCTGTCTTAGACCATT 0.393000 APAF1 317 broad.mit.edu 37 12 99077029 99077029 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:99077029G>A uc001tfz.2 + 15 2732 c.2155G>A c.(2155-2157)GGG>AGG p.G719R APAF1_uc001tfy.2_Missense_Mutation_p.G708R|APAF1_uc001tga.2_Missense_Mutation_p.G708R|APAF1_uc001tgb.2_Missense_Mutation_p.G719R|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.G128R NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 719 WD 3. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) CTTAGCCACTGGGTCAAGTGA 0.393000 UNG 7374 broad.mit.edu 37 12 109541289 109541289 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:109541289C>G uc001tnz.1 + 6 744 c.674C>G c.(673-675)TCT>TGT p.S225C UNG_uc001toa.1_Missense_Mutation_p.S216C NM_080911 NP_550433 P13051 UNG_HUMAN uracil-DNA glycosylase isoform UNG2 225 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity lung(1)|central_nervous_system(1) 2 CAAGCCAACTCTCATAAGGAG 0.498000 BER_DNA_glycosylases Immune_Deficiency_with_Hyper-IgM CCDC60 160777 broad.mit.edu 37 12 119943022 119943022 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:119943022G>C uc001txe.2 + 7 1262 c.797G>C c.(796-798)AGT>ACT p.S266T uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 266 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GAGCCCCCAAGTGTGAACACC 0.562000 CLIP1 6249 broad.mit.edu 37 12 122845597 122845597 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:122845597G>C uc001ucg.1 - 4 1020 c.914C>G c.(913-915)GCC>GGC p.A305G CLIP1_uc001uch.1_Missense_Mutation_p.A305G|CLIP1_uc001uci.1_Missense_Mutation_p.A305G|CLIP1_uc001ucj.1_Missense_Mutation_p.A6G|CLIP1_uc010tae.1_Missense_Mutation_p.A305G NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 305 Ser-rich. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTTCAGGCTGGCGGACGTGGT 0.602000 MMP17 4326 broad.mit.edu 37 12 132325159 132325159 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr12:132325159C>T uc001ujc.1 + 4 563 c.464C>T c.(463-465)ACG>ATG p.T155M MMP17_uc001ujd.1_Missense_Mutation_p.T71M NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 155 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GGGCACGACACGGTGCGTGCA 0.667000 SACS 26278 broad.mit.edu 37 13 23907855 23907855 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:23907855A>C uc001uon.2 - 10 10749 c.10160T>G c.(10159-10161)CTT>CGT p.L3387R SACS_uc001uoo.2_Missense_Mutation_p.L3240R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3387 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATACATCAAAAGTGCCTCAAA 0.348000 RNF17 56163 broad.mit.edu 37 13 25444738 25444738 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:25444738T>G uc001upr.2 + 32 4349 c.4308T>G c.(4306-4308)ACT>ACG p.T1436T RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.T1432T|RNF17_uc001ups.2_Silent_p.T1375T|RNF17_uc010aac.2_Silent_p.T628T|RNF17_uc010aad.2_Silent_p.T446T NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1436 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTATAGAAACTTCTAACCAGT 0.408000 DCLK1 9201 broad.mit.edu 37 13 36686166 36686166 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:36686166A>G uc001uvf.2 - 3 796 c.563T>C c.(562-564)GTC>GCC p.V188A NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 188 Doublecortin 2. 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 stomach(6)|ovary(2)|skin(1) 9 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) GATGATGGTGACCAGCTTGGG 0.532000 SOHLH2 54937 broad.mit.edu 37 13 36748937 36748937 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:36748937A>T uc001uvj.2 - 7 800 c.711T>A c.(709-711)GAT>GAA p.D237E SOHLH2_uc010tei.1_Missense_Mutation_p.D314E NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 237 Helix-loop-helix motif. cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CTGAAGCCGCATCATTCTTTC 0.423000 PCDH9 5101 broad.mit.edu 37 13 67205373 67205373 + Silent SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:67205373A>C uc001vik.2 - 4 4001 c.3309T>G c.(3307-3309)ACT>ACG p.T1103T PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.T1069T|PCDH9_uc010thl.1_Silent_p.T1061T NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1103 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CATCTGCTTCAGTCCTCTTGT 0.498000 CLN5 1203 broad.mit.edu 37 13 77574734 77574734 + Nonsense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:77574734T>G uc001vkc.2 + 4 882 c.854T>G c.(853-855)TTA>TGA p.L285* NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 236 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) AAATTTGTGTTAAGGACCTTT 0.378000 SLC10A2 6555 broad.mit.edu 37 13 103703770 103703770 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:103703770C>T uc001vpy.3 - 4 1195 c.598G>A c.(598-600)GCG>ACG p.A200T NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 200 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity p.A200A(1) ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGGCGCCCGCGATGGACCCA 0.438000 NOVA1 4857 broad.mit.edu 37 14 26917993 26917993 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:26917993T>C uc001wpy.2 - 5 1014 c.696A>G c.(694-696)AAA>AAG p.K232K NOVA1_uc001wpz.2_Silent_p.K208K|NOVA1_uc001wqa.2_Silent_p.K110K NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 235 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GTTCAACAGCTTTTCGGTTTT 0.473000 MDGA2 161357 broad.mit.edu 37 14 47426697 47426697 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:47426697A>G uc001wwj.3 - 9 1958 c.1762T>C c.(1762-1764)TTT>CTT p.F588L MDGA2_uc001wwi.3_Missense_Mutation_p.F359L|MDGA2_uc010ani.2_Missense_Mutation_p.F148L NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 588 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TGAGAGTCAAATTGACCCGTC 0.448000 PYGL 5836 broad.mit.edu 37 14 51383825 51383825 + Splice_Site SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:51383825T>G uc001wyu.2 - 8 983 c.856_splice c.e8-1 p.F286_splice PYGL_uc010tqq.1_Splice_Site_p.F252_splice|PYGL_uc001wyv.2_Splice_Site|PYGL_uc010anz.1_Splice_Site_p.F89_splice NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TTCAAAAAACTTCAAGCCAGA 0.438000 KCNH5 27133 broad.mit.edu 37 14 63483661 63483661 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:63483661A>C uc001xfx.2 - 2 136 c.85T>G c.(85-87)TTA>GTA p.L29V KCNH5_uc001xfy.2_Missense_Mutation_p.L29V|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 29 Cytoplasmic (Potential).|PAS. 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) TTTCCCAGTAAGAAACTTGAT 0.353000 DIO2 1734 broad.mit.edu 37 14 80669144 80669144 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:80669144T>G uc010tvq.1 - 4 1112 c.710A>C c.(709-711)AAA>ACA p.K237T DIO2_uc010tvp.1_Missense_Mutation_p.K273T|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.K237T|DIO2_uc010asy.2_3'UTR NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 237 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) ATAAGCAATTTTCTGTCTCTG 0.498000 EML5 161436 broad.mit.edu 37 14 89168805 89168805 + Nonsense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:89168805G>C uc001xxg.2 - 15 2409 c.2223C>G c.(2221-2223)TAC>TAG p.Y741* EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 741 WD 11. cytoplasm|microtubule ovary(3) 3 CTGTTGCCACGTAGTCTTTCA 0.368000 ATXN3 4287 broad.mit.edu 37 14 92547369 92547369 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr14:92547369G>A uc001yac.3 - 9 881 c.812C>T c.(811-813)ACA>ATA p.T271I ATXN3_uc010aug.2_Missense_Mutation_p.T256I|ATXN3_uc001yad.3_Missense_Mutation_p.T216I|ATXN3_uc010auh.2_Missense_Mutation_p.T205I|ATXN3_uc001yae.3_Missense_Mutation_p.T173I|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 271 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) TGTACCTGATGTCTGTGTCAT 0.343000 TTBK2 146057 broad.mit.edu 37 15 43045040 43045040 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr15:43045040T>C uc001zqo.2 - 14 2843 c.2404A>G c.(2404-2406)ATC>GTC p.I802V TTBK2_uc010bcy.2_Missense_Mutation_p.I733V NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 802 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGAGAGGAGATCTCAATACAA 0.408000 SLC12A1 6557 broad.mit.edu 37 15 48522588 48522588 + Splice_Site SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr15:48522588A>C uc001zwn.3 + 7 1081 c.865_splice c.e7-2 p.E289_splice SLC12A1_uc010uew.1_Splice_Site_p.E95_splice|SLC12A1_uc010bem.2_Splice_Site_p.E289_splice|SLC12A1_uc010uex.1_Splice_Site_p.E289_splice|SLC12A1_uc001zwq.3_Splice_Site_p.E60_splice|SLC12A1_uc001zwr.3_Splice_Site_p.E16_splice NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTGTTTCCCCAGGAGAGTGAT 0.393000 ONECUT1 3175 broad.mit.edu 37 15 53049845 53049845 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr15:53049845G>A uc002aci.1 - 2 1433 c.1305C>T c.(1303-1305)AAC>AAT p.N435N NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 435 Homeobox. endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) TCCTTCTTGCGTTCATGAAGA 0.473000 HERC1 8925 broad.mit.edu 37 15 63950881 63950881 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr15:63950881C>T uc002amp.2 - 48 9609 c.9461G>A c.(9460-9462)AGA>AAA p.R3154K NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3154 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TAACGTTATTCTCCCAGAGGA 0.458000 THSD4 79875 broad.mit.edu 37 15 71952875 71952875 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr15:71952875G>A uc002atb.1 + 7 1238 c.1159G>A c.(1159-1161)GGC>AGC p.G387S THSD4_uc002atd.1_Missense_Mutation_p.G61S|THSD4_uc010ukg.1_Missense_Mutation_p.G27S|THSD4_uc002ate.2_Missense_Mutation_p.G27S NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 387 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GCAGAGCATTGGCTGTGATGA 0.478000 CLDN9 9080 broad.mit.edu 37 16 3063534 3063534 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:3063534G>A uc010uwo.1 + 1 1078 c.171G>A c.(169-171)CAG>CAA p.Q57Q NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 57 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 GCGTGGTGCAGAGCACGGGCC 0.662000 CLDN6 9074 broad.mit.edu 37 16 3065603 3065603 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:3065603C>T uc002csu.3 - 2 480 c.420G>A c.(418-420)GCG>GCA p.A140A NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 140 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 TGATGGCATGCGCCGTCCAGC 0.622000 SLC5A11 115584 broad.mit.edu 37 16 24902195 24902195 + Missense_Mutation SNP G G A rs61744722 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:24902195G>A uc002dmu.2 + 9 902 c.670G>A c.(670-672)GCC>ACC p.A224T SLC5A11_uc002dms.2_Missense_Mutation_p.A160T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A189T|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A154T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A160T NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 224 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TCTAGGTTTTGCCGCGGTTGG 0.542000 HS3ST4 9951 broad.mit.edu 37 16 26147507 26147507 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:26147507T>G uc002dof.2 + 2 1701 c.1309T>G c.(1309-1311)TTG>GTG p.L437V NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 437 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.L437L(1) large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) ACCCTTCAACTTGATGTTTTA 0.473000 TSNAXIP1 55815 broad.mit.edu 37 16 67861893 67861893 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:67861893C>A uc002euj.2 + 16 2368 c.1974C>A c.(1972-1974)AGC>AGA p.S658R TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.S712R|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.S643R|TSNAXIP1_uc002eug.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002euh.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002eui.3_Missense_Mutation_p.S366R|TSNAXIP1_uc002euk.2_Missense_Mutation_p.S391R NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 658 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) AGCCTGCAAGCTAGGAACTTG 0.532000 TAT 6898 broad.mit.edu 37 16 71606201 71606201 + Silent SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr16:71606201C>A uc002fap.2 - 6 693 c.594G>T c.(592-594)CTG>CTT p.L198L NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 198 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CCAGTTGTTTCAGGTCAATTT 0.408000 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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) MYH10 4628 broad.mit.edu 37 17 8526315 8526315 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:8526315A>C uc002gll.2 - 2 346 c.250T>G c.(250-252)TTT>GTT p.F84V MYH10_uc002glm.2_Missense_Mutation_p.F84V|MYH10_uc010cnx.2_Missense_Mutation_p.F84V NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 84 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 ACCTTGGAAAACTTAGGTGGG 0.403000 TNFAIP1 7126 broad.mit.edu 37 17 26667474 26667474 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:26667474G>A uc002hax.1 + 3 364 c.345G>A c.(343-345)GGG>GGA p.G115G TNFAIP1_uc002hay.2_Silent_p.G115G|TNFAIP1_uc010waf.1_Silent_p.G11G NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 115 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TCATCCAGGGGCTGGTGAATA 0.547000 MED24 9862 broad.mit.edu 37 17 38191438 38191438 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:38191438C>T uc002htt.2 - 6 804 c.491G>A c.(490-492)CGC>CAC p.R164H MED24_uc010wes.1_Missense_Mutation_p.R5H|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.R189H|MED24_uc002htu.2_Missense_Mutation_p.R151H|MED24_uc010cwn.2_Missense_Mutation_p.R151H|MED24_uc010weu.1_Missense_Mutation_p.R74H|MED24_uc010wev.1_Missense_Mutation_p.R114H|MED24_uc010wew.1_Missense_Mutation_p.R93H|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.R114H|MED24_uc010wfb.1_Missense_Mutation_p.R176H|MED24_uc010wfc.1_Missense_Mutation_p.R101H NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 164 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TTTCTCCAGGCGCTGAAGGCA 0.657000 OREG0024387 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIF2B 84643 broad.mit.edu 37 17 51901901 51901901 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:51901901C>A uc002iua.2 + 1 1663 c.1507C>A c.(1507-1509)CTC>ATC p.L503I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 503 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CACACTGGTGCTCCGGGACTC 0.473000 BCAS3 54828 broad.mit.edu 37 17 58885385 58885385 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:58885385T>G uc002iyv.3 + 7 533 c.424T>G c.(424-426)TTT>GTT p.F142V BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.F142V|BCAS3_uc002iyw.3_Missense_Mutation_p.F138V NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 142 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ATGTGATAACTTTGCTGAAAA 0.303000 ABCA6 23460 broad.mit.edu 37 17 67087325 67087325 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr17:67087325G>C uc002jhw.1 - 26 3662 c.3487C>G c.(3487-3489)CCT>GCT p.P1163A NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1163 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) GTATATGAAGGAACCAATACC 0.323000 SETBP1 26040 broad.mit.edu 37 18 42531308 42531308 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr18:42531308A>C uc010dni.2 + 4 2299 c.2003A>C c.(2002-2004)AAG>ACG p.K668T NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 668 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACTATCAATAAGATGAAGACA 0.473000 Schinzel-Giedion_syndrome SALL3 27164 broad.mit.edu 37 18 76752229 76752229 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr18:76752229C>A uc002lmt.2 + 2 238 c.238C>A c.(238-240)CTG>ATG p.L80M SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCGCCCGTGCTGATCGTGCA 0.716000 GRIN3B 116444 broad.mit.edu 37 19 1005304 1005304 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:1005304G>A uc002lqo.1 + 3 1804 c.1804G>A c.(1804-1806)GGC>AGC p.G602S NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 602 Cytoplasmic (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TAGCCCCTACGGCCTCACGCC 0.642000 MUC16 94025 broad.mit.edu 37 19 9067492 9067492 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:9067492T>G uc002mkp.2 - 3 20158 c.19954A>C c.(19954-19956)ACA>CCA p.T6652P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6654 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 AGGGAGAATGTTGACTCCATC 0.507000 JUNB 3726 broad.mit.edu 37 19 12903585 12903585 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:12903585A>T uc002mvc.2 + 1 1276 c.1000A>T c.(1000-1002)AAC>TAC p.N334Y JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 334 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 CCACGTCAGCAACGGCTGTCA 0.657000 FKBP8 23770 broad.mit.edu 37 19 18650400 18650400 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:18650400C>T uc002njk.1 - 3 536 c.423G>A c.(421-423)CCG>CCA p.P141P FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Silent_p.P170P|FKBP8_uc002njj.1_Silent_p.P141P|FKBP8_uc002njl.1_Silent_p.P141P|FKBP8_uc002njm.1_Silent_p.P141P|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 141 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 ACACCAGCTCCGGCTCCTCCT 0.682000 ZNF257 113835 broad.mit.edu 37 19 22271961 22271961 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:22271961A>T uc010ecx.2 + 4 1578 c.1409A>T c.(1408-1410)CAG>CTG p.Q470L ZNF257_uc010ecy.2_Missense_Mutation_p.Q438L NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 470 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GCCTTTAACCAGTCTTCACAC 0.408000 ZNF91 7644 broad.mit.edu 37 19 23544823 23544823 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:23544823T>C uc002nre.2 - 4 1071 c.958A>G c.(958-960)AAA>GAA p.K320E ZNF91_uc010xrj.1_Missense_Mutation_p.K288E NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 320 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTGTAGGGTTTCTCTCCAGTA 0.388000 C19orf2 8725 broad.mit.edu 37 19 30503321 30503321 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:30503321A>T uc002nsr.2 + 10 1338 c.1308A>T c.(1306-1308)GGA>GGT p.G436G C19orf2_uc002nsq.2_Silent_p.G418G|C19orf2_uc002nss.2_Silent_p.G396G|C19orf2_uc002nst.2_Silent_p.G360G NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 436 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) ATAGGCGGGGAGTTTTGAGGA 0.458000 APLP1 333 broad.mit.edu 37 19 36365445 36365445 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:36365445T>C uc002oce.2 + 9 1234 c.1096T>C c.(1096-1098)TCT>CCT p.S366P APLP1_uc010xsz.1_Missense_Mutation_p.S327P|APLP1_uc002ocf.2_Missense_Mutation_p.S366P|APLP1_uc002ocg.2_Missense_Mutation_p.S269P|APLP1_uc010xta.1_Missense_Mutation_p.S360P NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 366 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGAGCAGGTGTCTGGTGAGCG 0.632000 SPRED3 399473 broad.mit.edu 37 19 38881012 38881012 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:38881012G>A uc002oim.2 + 1 74 c.70G>A c.(70-72)GGG>AGG p.G24R GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.G24R NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 24 WH1. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGGGGGGCGGGGGCCTCAG 0.726000 TBC1D17 79735 broad.mit.edu 37 19 50390983 50390983 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:50390983G>A uc002pqo.2 + 15 1703 c.1551G>A c.(1549-1551)TGG>TGA p.W517* TBC1D17_uc010ybg.1_Nonsense_Mutation_p.W484*|TBC1D17_uc002pqp.2_Nonsense_Mutation_p.W168*|TBC1D17_uc002pqr.2_Nonsense_Mutation_p.W168*|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 517 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) AGGTGCTGTGGACAGGGCTCC 0.667000 LENG9 94059 broad.mit.edu 37 19 54973371 54973371 + Missense_Mutation SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:54973371T>A uc010yez.1 - 1 1524 c.1405A>T c.(1405-1407)AGC>TGC p.S469C NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 469 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) ACTTCCTGGCTGAGGGTGAAC 0.652000 ZNF471 57573 broad.mit.edu 37 19 57036546 57036546 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:57036546T>C uc002qnh.2 + 5 1243 c.1110T>C c.(1108-1110)ACT>ACC p.T370T NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GTTATCATACTGGAGAGAAGC 0.398000 USP29 57663 broad.mit.edu 37 19 57641380 57641380 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:57641380T>C uc002qny.2 + 4 1693 c.1337T>C c.(1336-1338)CTC>CCC p.L446P NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 446 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATGCTGTTCTCAAGGTAGAA 0.383000 ZNF135 7694 broad.mit.edu 37 19 58578734 58578734 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr19:58578734T>C uc010yhq.1 + 5 1014 c.918T>C c.(916-918)GGT>GGC p.G306G ZNF135_uc002qre.2_Silent_p.G294G|ZNF135_uc002qrd.1_Silent_p.G252G|ZNF135_uc002qrf.2_Silent_p.G252G|ZNF135_uc002qrg.2_Silent_p.G264G|ZNF135_uc010yhr.1_Silent_p.G115G NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 306 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CTCACACAGGTGAGAAGCCCT 0.512000 APOB 338 broad.mit.edu 37 2 21234209 21234209 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:21234209G>A uc002red.2 - 26 5659 c.5531C>T c.(5530-5532)TCT>TTT p.S1844F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1844 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAAGGCAGCAGAAGAGATGGC 0.468000 EHBP1 23301 broad.mit.edu 37 2 63058193 63058193 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:63058193G>A uc002sby.2 + 7 1016 c.534G>A c.(532-534)ATG>ATA p.M178I EHBP1_uc010fcp.2_Missense_Mutation_p.M178I|EHBP1_uc002sbx.2_Missense_Mutation_p.M178I|EHBP1_uc002sbz.2_Missense_Mutation_p.M178I|EHBP1_uc002scb.2_Missense_Mutation_p.M178I NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 178 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TGATGAGTATGAAGCAGGCTG 0.343000 Hereditary_Prostate_Cancer CNRIP1 25927 broad.mit.edu 37 2 68544371 68544371 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:68544371A>C uc002sek.3 - 2 899 c.248T>G c.(247-249)GTT>GGT p.V83G CNRIP1_uc002sej.3_Missense_Mutation_p.V83G|CNRIP1_uc002sel.3_RNA|CNRIP1_uc010fdd.1_Missense_Mutation_p.V83G NM_015463 NP_056278 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 83 protein binding liver(1) 1 CGTATAAACAACTCTGTCCCC 0.498000 DYSF 8291 broad.mit.edu 37 2 71741005 71741005 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:71741005C>A uc002sie.2 + 6 993 c.617C>A c.(616-618)GCG>GAG p.A206E DYSF_uc010feg.2_Missense_Mutation_p.A237E|DYSF_uc010feh.2_Missense_Mutation_p.A206E|DYSF_uc002sig.3_Missense_Mutation_p.A206E|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A206E|DYSF_uc010fef.2_Missense_Mutation_p.A237E|DYSF_uc010fei.2_Missense_Mutation_p.A237E|DYSF_uc010fek.2_Missense_Mutation_p.A238E|DYSF_uc010fej.2_Missense_Mutation_p.A207E|DYSF_uc010fel.2_Missense_Mutation_p.A207E|DYSF_uc010feo.2_Missense_Mutation_p.A238E|DYSF_uc010fem.2_Missense_Mutation_p.A207E|DYSF_uc010fen.2_Missense_Mutation_p.A238E|DYSF_uc002sif.2_Missense_Mutation_p.A207E NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 206 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AAGCGAAGTGCGCCTACATCT 0.587000 CNTNAP5 129684 broad.mit.edu 37 2 125262020 125262020 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:125262020T>C uc002tno.2 + 8 1575 c.1211T>C c.(1210-1212)CTT>CCT p.L404P CNTNAP5_uc010flu.2_Missense_Mutation_p.L405P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 404 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GATGGTCTGCTTCTGTCCACA 0.552000 FAM123C 205147 broad.mit.edu 37 2 131520539 131520539 + Silent SNP C C T rs140458255 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:131520539C>T uc002trw.2 + 2 1084 c.894C>T c.(892-894)CCC>CCT p.P298P FAM123C_uc010fmv.2_Silent_p.P298P|FAM123C_uc010fms.1_Silent_p.P298P|FAM123C_uc010fmt.1_Silent_p.P298P|FAM123C_uc010fmu.1_Silent_p.P298P NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 298 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TGGCCTCGCCCGCCCAGAATG 0.657000 NCKAP5 344148 broad.mit.edu 37 2 133971302 133971302 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:133971302T>G uc002ttp.2 - 5 567 c.193A>C c.(193-195)AGT>CGT p.S65R NCKAP5_uc002ttq.2_Missense_Mutation_p.S65R|NCKAP5_uc002ttt.1_Missense_Mutation_p.S65R|NCKAP5_uc002tts.1_Missense_Mutation_p.S40R NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 65 protein binding 0 GCCCCCTCACTTGTTCTTTGG 0.488000 LRP1B 53353 broad.mit.edu 37 2 141625304 141625304 + Nonsense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:141625304A>T uc002tvj.1 - 27 5406 c.4434T>A c.(4432-4434)TAT>TAA p.Y1478* LRP1B_uc010fnl.1_Nonsense_Mutation_p.Y660* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1478 Extracellular (Potential).|LDL-receptor class B 12. 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) CTTCACTCCCATATAGAGACA 0.448000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141665505 141665505 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:141665505T>C uc002tvj.1 - 22 4433 c.3461A>G c.(3460-3462)GAG>GGG p.E1154G LRP1B_uc010fnl.1_Missense_Mutation_p.E336G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1154 Extracellular (Potential).|LDL-receptor class A 10. 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) GCAGAGTTTCTCTGGCTGCAG 0.448000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141747223 141747223 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:141747223T>G uc002tvj.1 - 17 3620 c.2648A>C c.(2647-2649)AAT>ACT p.N883T LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 883 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) ACAGCTATGATTGACTGGGAG 0.363000 TSP Lung(27;0.18) GALNT13 114805 broad.mit.edu 37 2 155102400 155102400 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:155102400T>C uc002tyr.3 + 7 1329 c.762T>C c.(760-762)ACT>ACC p.T254T GALNT13_uc002tyt.3_Silent_p.T254T|GALNT13_uc010foc.1_Silent_p.T73T|GALNT13_uc010fod.2_Silent_p.T7T NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 254 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CAGACATGACTTATGGGGGTT 0.408000 XIRP2 129446 broad.mit.edu 37 2 167760333 167760333 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:167760333T>G uc002udx.2 + 1 359 c.341T>G c.(340-342)CTT>CGT p.L114R XIRP2_uc010fpn.2_Missense_Mutation_p.L114R|XIRP2_uc010fpo.2_Missense_Mutation_p.L114R|XIRP2_uc010fpp.2_Missense_Mutation_p.L114R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCCATTGCCCTTGATGAGCTG 0.498000 MYO3B 140469 broad.mit.edu 37 2 171258164 171258164 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:171258164C>T uc002ufy.2 + 18 2235 c.2092C>T c.(2092-2094)CGC>TGC p.R698C MYO3B_uc002ufv.2_Missense_Mutation_p.R685C|MYO3B_uc010fqb.1_Missense_Mutation_p.R685C|MYO3B_uc002ufz.2_Missense_Mutation_p.R698C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 698 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GATTGTGAATCGCATTAATAC 0.547000 TTN 7273 broad.mit.edu 37 2 179470170 179470170 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:179470170G>A uc010zfg.1 - 228 46372 c.46148C>T c.(46147-46149)CCT>CTT p.P15383L uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P9078L|TTN_uc010zfi.1_Missense_Mutation_p.P9011L|TTN_uc010zfj.1_Missense_Mutation_p.P8886L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16310 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) TACATTAAGAGGTAGGGATGG 0.348000 TTN 7273 broad.mit.edu 37 2 179614992 179614992 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:179614992T>G uc002unb.2 - 46 12359 c.12135A>C c.(12133-12135)AAA>AAC p.K4045N 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) ACACTGGGACTTTATGTGCTT 0.393000 TTN 7273 broad.mit.edu 37 2 179633583 179633583 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:179633583A>C uc010zfg.1 - 38 9204 c.8980T>G c.(8980-8982)TAT>GAT p.Y2994D TTN_uc010zfh.1_Missense_Mutation_p.Y2948D|TTN_uc010zfi.1_Missense_Mutation_p.Y2948D|TTN_uc010zfj.1_Missense_Mutation_p.Y2948D|TTN_uc002unb.2_Missense_Mutation_p.Y2994D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2994 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) ATGCCTTCATAGTTCACTGTC 0.378000 STAT1 6772 broad.mit.edu 37 2 191848385 191848385 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:191848385G>A uc002usj.2 - 17 1817 c.1429C>T c.(1429-1431)CTG>TTG p.L477L STAT1_uc010fse.1_Silent_p.L477L|STAT1_uc002usk.2_Silent_p.L477L|STAT1_uc002usl.2_Silent_p.L479L|STAT1_uc010fsf.1_Silent_p.L289L NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 477 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TCCGCCACCAGCATGTTGTAC 0.547000 PLCL1 5334 broad.mit.edu 37 2 198950584 198950584 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:198950584T>G uc010fsp.2 + 2 2634 c.2343T>G c.(2341-2343)ACT>ACG p.T781T PLCL1_uc002uuv.3_Silent_p.T702T NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 781 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTGATGAAACTTTTGAGTTCC 0.388000 PLCL1 5334 broad.mit.edu 37 2 198950764 198950764 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:198950764T>G uc010fsp.2 + 2 2814 c.2523T>G c.(2521-2523)CTT>CTG p.L841L PLCL1_uc002uuv.3_Silent_p.L762L NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 841 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ACGTAACCCTTTTTGTCCACA 0.453000 SPATS2L 26010 broad.mit.edu 37 2 201305422 201305422 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:201305422C>G uc002uvn.3 + 8 1055 c.703C>G c.(703-705)CTA>GTA p.L235V SPATS2L_uc010fst.2_Missense_Mutation_p.L235V|SPATS2L_uc002uvo.3_Missense_Mutation_p.L175V|SPATS2L_uc002uvp.3_Missense_Mutation_p.L235V|SPATS2L_uc002uvq.3_Missense_Mutation_p.L166V|SPATS2L_uc002uvr.3_Missense_Mutation_p.L235V|SPATS2L_uc010zhc.1_Missense_Mutation_p.L265V NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 235 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 CACCGTTTCTCTAACTAGATA 0.373000 RAPH1 65059 broad.mit.edu 37 2 204354397 204354397 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:204354397G>A uc002vad.2 - 4 867 c.642C>T c.(640-642)TCC>TCT p.S214S RAPH1_uc002vae.2_Silent_p.S214S|RAPH1_uc002vaf.2_Silent_p.S214S NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 214 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 TGGAGGCTGCGGAAGTGATGC 0.453000 ZDBF2 57683 broad.mit.edu 37 2 207170797 207170797 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:207170797A>C uc002vbp.2 + 5 1795 c.1545A>C c.(1543-1545)GAA>GAC p.E515D NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 515 nucleic acid binding|zinc ion binding ovary(3) 3 CTGTAACAGAAGTAAACCTTC 0.418000 MAP2 4133 broad.mit.edu 37 2 210557419 210557419 + Silent SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:210557419A>C uc002vde.1 + 7 773 c.525A>C c.(523-525)TCA>TCC p.S175S MAP2_uc002vdc.1_Silent_p.S175S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S171S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 175 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGAGCCTTCAGACCAGAAGG 0.433000 ABCA12 26154 broad.mit.edu 37 2 215812241 215812241 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:215812241A>C uc002vew.2 - 48 7364 c.7144T>G c.(7144-7146)TTC>GTC p.F2382V ABCA12_uc002vev.2_Missense_Mutation_p.F2064V|ABCA12_uc010zjn.1_Missense_Mutation_p.F1309V NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2382 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGTCCTTGAAGGGCATCAGG 0.443000 CHRND 1144 broad.mit.edu 37 2 233394675 233394675 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:233394675C>T uc002vsw.2 + 7 650 c.646C>T c.(646-648)CGG>TGG p.R216W CHRND_uc010zmg.1_Missense_Mutation_p.R201W|CHRND_uc010fyc.2_Missense_Mutation_p.R89W|CHRND_uc010zmh.1_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 216 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GATAGTCCACCGGCCGGCCAG 0.647000 GPC1 2817 broad.mit.edu 37 2 241405692 241405692 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr2:241405692G>A uc002vyw.3 + 9 1883 c.1662G>A c.(1660-1662)AGG>AGA p.R554R NM_002081 NP_002072 P35052 GPC1_HUMAN glypican 1 precursor 554 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CAGTAGCCAGGCCCCGGTGGC 0.602000 PLCB1 23236 broad.mit.edu 37 20 8626804 8626804 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:8626804C>T uc002wnb.2 + 5 443 c.440C>T c.(439-441)TCC>TTC p.S147F PLCB1_uc010zrb.1_Missense_Mutation_p.S46F|PLCB1_uc010gbv.1_Missense_Mutation_p.S147F|PLCB1_uc002wmz.1_Missense_Mutation_p.S147F|PLCB1_uc002wna.2_Missense_Mutation_p.S147F|PLCB1_uc002wnc.1_Missense_Mutation_p.S46F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 147 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CAAAACATGTCCAGGGATGCA 0.408000 C20orf26 26074 broad.mit.edu 37 20 20051611 20051611 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:20051611C>T uc002wru.2 + 3 333 c.257C>T c.(256-258)TCA>TTA p.S86L C20orf26_uc010gcw.1_Missense_Mutation_p.S40L|C20orf26_uc010zse.1_Missense_Mutation_p.S86L|C20orf26_uc010zsf.1_Missense_Mutation_p.S86L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 86 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GACTGGGTGTCAGTGTTCCGG 0.517000 SSTR4 6754 broad.mit.edu 37 20 23016284 23016284 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:23016284C>T uc002wsr.2 + 1 228 c.164C>T c.(163-165)GCG>GTG p.A55V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 55 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGCATCTACGCGCTGGTGTGC 0.522000 CD93 22918 broad.mit.edu 37 20 23065702 23065702 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:23065702G>A uc002wsv.2 - 1 1276 c.1128C>T c.(1126-1128)GGC>GGT p.G376G NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 376 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTCCAGGACCGCCCGGCTCAT 0.632000 ACSS1 84532 broad.mit.edu 37 20 24993551 24993551 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:24993551G>A uc002wub.2 - 11 2482 c.1604C>T c.(1603-1605)GCT>GTT p.A535V ACSS1_uc002wuc.2_Missense_Mutation_p.A533V|ACSS1_uc010gdc.2_Missense_Mutation_p.A330V|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A452V NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 535 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGTTCGGTAAGCCCCGTCTCC 0.577000 C20orf4 25980 broad.mit.edu 37 20 34832708 34832708 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:34832708C>T uc002xfc.1 + 3 940 c.847C>T c.(847-849)CGG>TGG p.R283W C20orf4_uc002xfd.1_Missense_Mutation_p.R283W|C20orf4_uc002xfe.1_Missense_Mutation_p.R283W NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 283 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) CCTCCTGTGCCGGTCAGAAGC 0.532000 ZFP64 55734 broad.mit.edu 37 20 50701472 50701472 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:50701472C>A uc002xwk.2 - 9 1911 c.1562G>T c.(1561-1563)CGT>CTT p.R521L ZFP64_uc002xwj.2_Missense_Mutation_p.R302L NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTGAAGGGACGGTCCTTACA 0.642000 RAE1 8480 broad.mit.edu 37 20 55931555 55931555 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:55931555G>C uc002xyg.2 + 4 590 c.249G>C c.(247-249)CAG>CAC p.Q83H RAE1_uc010gis.1_Missense_Mutation_p.Q36H|RAE1_uc010git.1_Missense_Mutation_p.Q83H|RAE1_uc002xyh.2_Missense_Mutation_p.Q83H|RAE1_uc002xyi.2_Missense_Mutation_p.Q83H NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 83 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) AAGCCCAGCAGATGCACACTG 0.418000 TAF4 6874 broad.mit.edu 37 20 60584158 60584158 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr20:60584158G>A uc002ybs.2 - 5 1834 c.1834C>T c.(1834-1836)CAG>TAG p.Q612* NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 612 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCTGTAGACTGCTTGCCAGAT 0.378000 TMPRSS15 5651 broad.mit.edu 37 21 19704431 19704431 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr21:19704431A>G uc002ykw.2 - 14 1655 c.1624T>C c.(1624-1626)TTT>CTT p.F542L NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 542 Extracellular (Potential).|CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CTGTTTGGAAAGTTCGTAGAA 0.423000 SLC5A4 6527 broad.mit.edu 37 22 32625330 32625330 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr22:32625330T>C uc003ami.2 - 11 1133 c.1131A>G c.(1129-1131)GGA>GGG p.G377G NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 377 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 GGCCTCGCAGTCCTGGAGCCG 0.532000 CBX6 23466 broad.mit.edu 37 22 39263079 39263079 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr22:39263079C>T uc003awl.2 - 5 437 c.374G>A c.(373-375)CGC>CAC p.R125H NM_014292 NP_055107 O95503 CBX6_HUMAN chromobox homolog 6 125 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex 0 Melanoma(58;0.04) ACGGTGGCAGCGGCGGATGTC 0.697000 CELSR1 9620 broad.mit.edu 37 22 46805053 46805053 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr22:46805053G>A uc003bhw.1 - 9 5066 c.5066C>T c.(5065-5067)CCT>CTT p.P1689L CELSR1_uc011arc.1_Missense_Mutation_p.P2L NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1689 Extracellular (Potential).|Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTGGGGGTGAGGCATGGCTGC 0.657000 GRM7 2917 broad.mit.edu 37 3 7620685 7620685 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:7620685A>G uc003bqm.2 + 8 2366 c.2092A>G c.(2092-2094)AGC>GGC p.S698G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.S698G|GRM7_uc003bql.2_Missense_Mutation_p.S698G|GRM7_uc003bqn.1_Missense_Mutation_p.S281G|GRM7_uc010hch.1_Missense_Mutation_p.S209G NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 698 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CAGACTCATAAGCCCAACATC 0.433000 SRGAP3 9901 broad.mit.edu 37 3 9027555 9027555 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:9027555G>A uc003brf.1 - 22 3624 c.2948C>T c.(2947-2949)ACG>ATG p.T983M SRGAP3_uc003brg.1_Missense_Mutation_p.T959M NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 983 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTGCTTGACCGTGTTCTGCCT 0.642000 T RAF1 pilocytic astrocytoma KCNH8 131096 broad.mit.edu 37 3 19554711 19554711 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:19554711A>C uc003cbk.1 + 13 2524 c.2329A>C c.(2329-2331)ACC>CCC p.T777P KCNH8_uc010hex.1_Missense_Mutation_p.T238P NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 777 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TTCCCCCAAAACCAAGCAGGA 0.468000 DCLK3 85443 broad.mit.edu 37 3 36778860 36778861 + Silent DNP GG GG AA TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:36778860_36778861GG>AA uc003cgi.2 - 2 1781_1782 c.1290_1291CC>TT c.(1288-1293)ATCCTG>ATTTTG p.430_431IL>IL NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 430_431 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 ACGTACTCCAGGATCAGGTAGA 0.490000 XYLB 9942 broad.mit.edu 37 3 38390119 38390119 + Missense_Mutation SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:38390119T>A uc003cic.2 + 2 245 c.136T>A c.(136-138)TTT>ATT p.F46I XYLB_uc011ayp.1_5'UTR NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 46 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TCTTCCAGAATTTGGGTATGT 0.438000 MYRIP 25924 broad.mit.edu 37 3 40085715 40085715 + Nonsense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:40085715C>G uc003cka.2 + 3 420 c.285C>G c.(283-285)TAC>TAG p.Y95* MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Nonsense_Mutation_p.Y95*|MYRIP_uc010hhw.2_Missense_Mutation_p.T52S|MYRIP_uc010hhx.1_Nonsense_Mutation_p.Y95* NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 95 FYVE-type.|RabBD. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GCTGCTCCTACCAGAAGCACG 0.552000 ERC2 26059 broad.mit.edu 37 3 56207504 56207504 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:56207504C>T uc003dhr.1 - 4 1375 c.1119G>A c.(1117-1119)ACG>ACA p.T373T NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 373 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GGAGAGCCTTCGTCTTGGCTG 0.488000 CNTN3 5067 broad.mit.edu 37 3 74316425 74316425 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:74316425C>T uc003dpm.1 - 20 2889 c.2809G>A c.(2809-2811)GGA>AGA p.G937R NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 937 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACTTTATATCCTGTTACTTCT 0.353000 ROBO1 6091 broad.mit.edu 37 3 78700930 78700930 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:78700930G>A uc003dqe.2 - 19 2972 c.2764C>T c.(2764-2766)CGC>TGC p.R922C ROBO1_uc003dqb.2_Missense_Mutation_p.R883C|ROBO1_uc003dqc.2_Missense_Mutation_p.R886C|ROBO1_uc003dqd.2_Missense_Mutation_p.R886C|ROBO1_uc010hoh.2_Missense_Mutation_p.R114C|ROBO1_uc011bgl.1_Missense_Mutation_p.R494C NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 922 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTCTTCTTGCGGTGTCGATAA 0.433000 HTR1F 3355 broad.mit.edu 37 3 88039930 88039930 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:88039930T>G uc003dqr.2 + 2 189 c.31T>G c.(31-33)TTG>GTG p.L11V NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 11 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TGATCAAAACTTGACCTCAGA 0.368000 HTR1F 3355 broad.mit.edu 37 3 88040909 88040909 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:88040909A>C uc003dqr.2 + 2 1168 c.1010A>C c.(1009-1011)TAT>TCT p.Y337S NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 337 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TGGCTTGGGTATCTCAATTCC 0.313000 IGSF11 152404 broad.mit.edu 37 3 118645003 118645003 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:118645003A>G uc003ebw.2 - 4 772 c.525T>C c.(523-525)ACT>ACC p.T175T IGSF11_uc011biv.1_Silent_p.T175T|IGSF11_uc003ebx.2_Silent_p.T175T|IGSF11_uc003eby.2_Silent_p.T174T|IGSF11_uc003ebz.2_Silent_p.T174T|IGSF11_uc010hqs.2_Silent_p.T174T NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 175 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CCCAAAGGTAAGTTGGTCGAG 0.478000 POLQ 10721 broad.mit.edu 37 3 121151768 121151768 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:121151768A>G uc003eee.3 - 29 7785 c.7656T>C c.(7654-7656)GTT>GTC p.V2552V POLQ_uc003eed.2_Silent_p.V1724V NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2552 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAAATACCTGAACAACATCTT 0.438000 DNA_polymerases_(catalytic_subunits) PLXNA1 5361 broad.mit.edu 37 3 126751404 126751404 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:126751404C>T uc003ejg.2 + 29 5341 c.5337C>T c.(5335-5337)TAC>TAT p.Y1779Y PLXNA1_uc003ejh.2_Silent_p.Y447Y NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1802 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) AGCTGCTCTACGCCAAGGACA 0.642000 KY 339855 broad.mit.edu 37 3 134338003 134338003 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:134338003C>T uc010hty.2 - 8 759 c.697G>A c.(697-699)GAG>AAG p.E233K KY_uc011blw.1_Missense_Mutation_p.E233K|KY_uc011blx.1_Missense_Mutation_p.E212K|KY_uc003eqr.1_5'UTR NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 233 cytoskeleton|Z disc peptidase activity ovary(2) 2 CACATTCTCTCGAAGAGGCCA 0.577000 PAQR9 344838 broad.mit.edu 37 3 142681901 142681901 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:142681901G>A uc003evg.2 - 1 278 c.278C>T c.(277-279)CCG>CTG p.P93L PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 93 Helical; (Potential). integral to membrane receptor activity 0 CAGCAGCAGCGGGATGAAGTG 0.642000 P2RY13 53829 broad.mit.edu 37 3 151046239 151046239 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:151046239C>G uc003eyv.2 - 2 626 c.605G>C c.(604-606)GGG>GCG p.G202A MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 202 Extracellular (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) CCATTTCAGCCCCAGAGGCCC 0.383000 GPR160 26996 broad.mit.edu 37 3 169802666 169802666 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:169802666A>C uc003fgi.2 + 4 1496 c.906A>C c.(904-906)AAA>AAC p.K302N GPR160_uc010hwq.2_Missense_Mutation_p.K302N NM_014373 NP_055188 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 302 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTAATTTAAAAGACATTGGAT 0.328000 NAALADL2 254827 broad.mit.edu 37 3 175520892 175520892 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:175520892A>G uc003fit.2 + 14 2376 c.2289A>G c.(2287-2289)CAA>CAG p.Q763Q NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 763 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGACCCTTCAAGAAGCCCTGT 0.438000 FGF12 2257 broad.mit.edu 37 3 191861866 191861866 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:191861866G>A uc003fsx.2 - 5 1490 c.664C>T c.(664-666)CGT>TGT p.R222C FGF12_uc003fsy.2_Missense_Mutation_p.R160C NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 222 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTCCTTGAACGCCCTTGTTTT 0.328000 KIAA0226 9711 broad.mit.edu 37 3 197402382 197402382 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr3:197402382C>A uc003fyc.2 - 19 2834 c.2651G>T c.(2650-2652)TGC>TTC p.C884F KIAA0226_uc003fyd.3_Missense_Mutation_p.C839F|MIR922_hsa-mir-922|MI0005714_5'Flank NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 884 Cys-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TTTGGCTTGGCAGAGCTGGGG 0.542000 ZNF595 152687 broad.mit.edu 37 4 87099 87099 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:87099T>C uc003fzv.1 + 6 1861 c.1705T>C c.(1705-1707)TGT>CGT p.C569R ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.C337R|ZNF595_uc011but.1_Missense_Mutation_p.C337R NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 569 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ATGCAAAGAATGTGGCAAAGC 0.393000 OTOP1 133060 broad.mit.edu 37 4 4199804 4199804 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:4199804T>C uc003ghp.1 - 5 787 c.757A>G c.(757-759)AAC>GAC p.N253D NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 253 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCGTGCAGTTACACTGCGGT 0.522000 CD38 952 broad.mit.edu 37 4 15839770 15839770 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:15839770A>T uc011bxc.1 + 5 748 c.641A>T c.(640-642)AAA>ATA p.K214I CD38_uc003gol.1_Missense_Mutation_p.K214I NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 214 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 TCCCGCAGTAAAATCTTTGAC 0.368000 KIAA1211 57482 broad.mit.edu 37 4 57182545 57182545 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:57182545A>T uc003hbk.2 + 8 3268 c.2877A>T c.(2875-2877)CAA>CAT p.Q959H KIAA1211_uc010iha.2_Missense_Mutation_p.Q952H|KIAA1211_uc011bzz.1_Missense_Mutation_p.Q869H|KIAA1211_uc003hbm.1_Missense_Mutation_p.Q845H NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 959 Pro-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CACTGGCACAAAAGCCAGCAC 0.637000 TMPRSS11F 389208 broad.mit.edu 37 4 68956353 68956353 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:68956353T>G uc003hdt.1 - 3 219 c.170A>C c.(169-171)AAG>ACG p.K57T NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 57 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ATAGAAAGACTTATCATCTGA 0.333000 C4orf31 79625 broad.mit.edu 37 4 121958019 121958019 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:121958019A>T uc003idq.1 - 4 1634 c.1107T>A c.(1105-1107)TCT>TCA p.S369S NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 369 0 TTTGGTGAGAAGAGACTGGAG 0.413000 FAT4 79633 broad.mit.edu 37 4 126372719 126372719 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:126372719A>C uc003ifj.3 + 9 10548 c.10548A>C c.(10546-10548)GAA>GAC p.E3516D FAT4_uc011cgp.1_Missense_Mutation_p.E1814D|FAT4_uc003ifi.1_Missense_Mutation_p.E994D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3516 Cadherin 34.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTGAAGGAGAAGTCATGGAAA 0.478000 FAT4 79633 broad.mit.edu 37 4 126411303 126411303 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:126411303G>T uc003ifj.3 + 17 13326 c.13326G>T c.(13324-13326)GAG>GAT p.E4442D FAT4_uc011cgp.1_Missense_Mutation_p.E2683D|FAT4_uc003ifi.1_Missense_Mutation_p.E1919D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4442 EGF-like 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCAGCTGTGAGCCAGGCCTGC 0.612000 OTUD4 54726 broad.mit.edu 37 4 146067479 146067479 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:146067479T>G uc003ika.3 - 14 1305 c.1167A>C c.(1165-1167)GAA>GAC p.E389D OTUD4_uc003ijz.3_Missense_Mutation_p.E388D NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 453 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AACGGGATTCTTCTATAGCTT 0.413000 DCHS2 54798 broad.mit.edu 37 4 155219157 155219157 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:155219157G>A uc003inw.2 - 18 4944 c.4944C>T c.(4942-4944)TAC>TAT p.Y1648Y NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1648 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGATAGGGAAGTATTCTGAAG 0.408000 NPY2R 4887 broad.mit.edu 37 4 156135632 156135632 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:156135632A>C uc003ioq.2 + 2 1036 c.541A>C c.(541-543)AGT>CGT p.S181R NPY2R_uc003ior.2_Missense_Mutation_p.S181R NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 181 Helical; Name=4; (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CCTGCTGGCAAGTCCCCTGGC 0.552000 TMEM192 201931 broad.mit.edu 37 4 166000876 166000876 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:166000876C>T uc003iqz.3 - 6 849 c.750G>A c.(748-750)GCG>GCA p.A250A NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN transmembrane protein 192 250 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) TACTCAGCAGCGCATTGTGTC 0.453000 TLL1 7092 broad.mit.edu 37 4 166935691 166935691 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr4:166935691A>G uc003irh.1 + 8 1668 c.1021A>G c.(1021-1023)AGA>GGA p.R341G TLL1_uc011cjn.1_Missense_Mutation_p.R341G|TLL1_uc011cjo.1_Missense_Mutation_p.R165G NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 341 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CGCACAGGCAAGAAAGCTGTA 0.448000 BRD9 65980 broad.mit.edu 37 5 876276 876276 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:876276G>A uc003jbq.2 - 12 1490 c.1323C>T c.(1321-1323)GAC>GAT p.D441D BRD9_uc003jbl.2_Silent_p.D325D|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.D388D|BRD9_uc003jbo.2_Silent_p.D345D|BRD9_uc003jbp.2_Silent_p.D102D|BRD9_uc011cmc.1_RNA NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 441 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CCAGGAGGTCGTCCACCACTT 0.627000 SEMA5A 9037 broad.mit.edu 37 5 9108375 9108375 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:9108375A>G uc003jek.2 - 16 2662 c.1950T>C c.(1948-1950)TGT>TGC p.C650C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 650 TSP type-1 2.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGTGTGGGGGACATAGCAAAT 0.512000 DNAH5 1767 broad.mit.edu 37 5 13736033 13736033 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:13736033G>A uc003jfd.2 - 67 11506 c.11464C>T c.(11464-11466)CGG>TGG p.R3822W DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3822 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATGCTGCCCCGCGTAGCCACT 0.443000 Kartagener_syndrome RXFP3 51289 broad.mit.edu 37 5 33937122 33937122 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:33937122G>A uc003jic.1 + 1 634 c.277G>A c.(277-279)GCC>ACC p.A93T NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 93 Helical; Name=1; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGTGGTGTGCGCCCTGGGGTT 0.662000 CMYA5 202333 broad.mit.edu 37 5 79034410 79034410 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:79034410A>C uc003kgc.2 + 2 9894 c.9822A>C c.(9820-9822)CAA>CAC p.Q3274H NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3274 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATTCATACCAACCGATAGCTG 0.438000 DMXL1 1657 broad.mit.edu 37 5 118484496 118484496 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:118484496T>G uc003ksd.2 + 18 3155 c.2974T>G c.(2974-2976)TGT>GGT p.C992G DMXL1_uc010jcl.1_Missense_Mutation_p.C992G NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 992 WD 8. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GGCAACTTCATGTTCAGATGA 0.348000 ACSL6 23305 broad.mit.edu 37 5 131324527 131324527 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:131324527G>A uc010jdo.1 - 6 631 c.548C>T c.(547-549)CCT>CTT p.P183L ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.P208L|ACSL6_uc003kvy.1_Missense_Mutation_p.P208L|ACSL6_uc003kwb.2_Missense_Mutation_p.P173L|ACSL6_uc003kvz.1_Missense_Mutation_p.P148L|ACSL6_uc003kwa.1_Missense_Mutation_p.P194L|ACSL6_uc010jdn.1_Missense_Mutation_p.P183L|ACSL6_uc010jdp.1_5'Flank NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 183 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GATAGCCCCAGGGCCCAGGGT 0.602000 PCDHGA2 56113 broad.mit.edu 37 5 140720706 140720706 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:140720706G>A uc003ljk.1 + 1 2353 c.2168G>A c.(2167-2169)CGC>CAC p.R723H PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R723H|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 723 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAAGTCACGCCTGCTGCAG 0.642000 FAT2 2196 broad.mit.edu 37 5 150908750 150908750 + Missense_Mutation SNP C C T rs114070271 byFrequency TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:150908750C>T uc003lue.3 - 14 10028 c.10015G>A c.(10015-10017)GTC>ATC p.V3339I GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V32I NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3339 Cadherin 30.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGAGGATGACGTCACCCACA 0.517000 STC2 8614 broad.mit.edu 37 5 172750412 172750412 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:172750412C>T uc003mco.1 - 3 1626 c.316G>A c.(316-318)GCC>ACC p.A106T STC2_uc003mcn.1_Missense_Mutation_p.A21T NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 106 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CATTTCAAGGCGTCTTTGATG 0.567000 FAF2 23197 broad.mit.edu 37 5 175916030 175916030 + Splice_Site SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr5:175916030T>G uc003mej.3 + 4 397 c.344_splice c.e4+2 p.R115_splice NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 TATATTTAGGTATGTACCTTT 0.343000 GFOD1 54438 broad.mit.edu 37 6 13365511 13365511 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:13365511G>A uc003nat.1 - 2 1302 c.637C>T c.(637-639)CGA>TGA p.R213* GFOD1_uc003nas.1_Nonsense_Mutation_p.R110* NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 213 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GTGATCTGTCGGATGCCCTTG 0.592000 ZNF311 282890 broad.mit.edu 37 6 28963505 28963505 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:28963505C>T uc003nlu.2 - 7 1787 c.1274G>A c.(1273-1275)AGT>AAT p.S425N ZNF311_uc011dlk.1_Missense_Mutation_p.S333N|ZNF311_uc003nlv.2_Missense_Mutation_p.S333N NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 425 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TGAGCTCCGACTGAAGGCCCT 0.512000 BRPF3 27154 broad.mit.edu 37 6 36181694 36181694 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:36181694C>T uc003olv.3 + 8 2744 c.2520C>T c.(2518-2520)CCC>CCT p.P840P BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 840 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 CCCTGGAGCCCACTGGGCCTG 0.493000 C6orf138 442213 broad.mit.edu 37 6 47847330 47847330 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:47847330C>T uc011dwm.1 - 3 1284 c.1199G>A c.(1198-1200)CGC>CAC p.R400H C6orf138_uc011dwn.1_Missense_Mutation_p.R164H NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 417 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CACAGGTTTGCGATCCAGGTA 0.507000 LAMA2 3908 broad.mit.edu 37 6 129511389 129511389 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:129511389G>A uc003qbn.2 + 11 1612 c.1507G>A c.(1507-1509)GGC>AGC p.G503S LAMA2_uc003qbo.2_Missense_Mutation_p.G503S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 503 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGCAAATCCGGCTTCTTCAA 0.433000 TMEM200A 114801 broad.mit.edu 37 6 130762908 130762908 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:130762908A>C uc003qca.2 + 3 2212 c.1341A>C c.(1339-1341)CAA>CAC p.Q447H TMEM200A_uc010kfh.2_Missense_Mutation_p.Q447H|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q447H|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q447H NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 447 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTGTGCCCCAAGTTGCCATCA 0.393000 SYNE1 23345 broad.mit.edu 37 6 152718078 152718078 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:152718078A>T uc010kiw.2 - 50 7990 c.7388T>A c.(7387-7389)CTT>CAT p.L2463H SYNE1_uc003qot.3_Missense_Mutation_p.L2470H|SYNE1_uc003qou.3_Missense_Mutation_p.L2463H|SYNE1_uc010kjb.1_Missense_Mutation_p.L2446H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2463 Spectrin 4.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CACTGCATCAAGTTTGCTCTG 0.383000 HNSCC(10;0.0054) PLG 5340 broad.mit.edu 37 6 161158022 161158022 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:161158022A>G uc003qtm.3 + 14 1848 c.1785A>G c.(1783-1785)CAA>CAG p.Q595Q NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 595 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCCCTGGCAAGTCAGTCTTA 0.502000 QKI 9444 broad.mit.edu 37 6 163984719 163984719 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr6:163984719T>G uc003qui.2 + 6 1453 c.902T>G c.(901-903)CTT>CGT p.L301R QKI_uc003que.2_Missense_Mutation_p.L301R|QKI_uc003quf.2_Missense_Mutation_p.L301R|QKI_uc003qug.2_Missense_Mutation_p.L301R|QKI_uc003quh.2_Missense_Mutation_p.L293R|QKI_uc003quj.2_Missense_Mutation_p.L293R NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 301 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) ACATCAATCCTTGAGTATCCT 0.433000 TNRC18 84629 broad.mit.edu 37 7 5363972 5363972 + Silent SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:5363972C>G uc003soi.3 - 21 6664 c.6315G>C c.(6313-6315)GGG>GGC p.G2105G NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2105 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCACGGCACCCCCCTTGCCGC 0.622000 DNAH11 8701 broad.mit.edu 37 7 21760426 21760426 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:21760426T>G uc003svc.2 + 45 7270 c.7239T>G c.(7237-7239)TTT>TTG p.F2413L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2413 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAGTCTATTTTGTATTTGCTT 0.393000 Kartagener_syndrome BMPER 168667 broad.mit.edu 37 7 34182850 34182850 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:34182850T>C uc011kap.1 + 14 1868 c.1754T>C c.(1753-1755)GTG>GCG p.V585A NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 585 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AGGTCCTGTGTGACAGACATG 0.413000 SFRP4 6424 broad.mit.edu 37 7 37955820 37955820 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:37955820T>C uc003tfo.3 - 1 706 c.320A>G c.(319-321)GAC>GGC p.D107G NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 107 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 GGGCTCGCAGTCGTCGCGCGC 0.617000 C7orf10 79783 broad.mit.edu 37 7 40899936 40899936 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:40899936A>C uc003thn.1 + 14 1220 c.1175A>C c.(1174-1176)AAG>ACG p.K392T C7orf10_uc003thm.1_Missense_Mutation_p.K388T|C7orf10_uc003tho.1_Missense_Mutation_p.K344T|C7orf10_uc003thp.1_RNA NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 399 transferase activity ovary(2) 2 AGATACAGTAAGTTCAAGATG 0.547000 GLI3 2737 broad.mit.edu 37 7 42116369 42116369 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:42116369G>A uc011kbh.1 - 4 546 c.455C>T c.(454-456)CCG>CTG p.P152L GLI3_uc011kbg.1_Missense_Mutation_p.P93L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 152 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TGGAGGAATCGGAGATGGATC 0.428000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ADCY1 107 broad.mit.edu 37 7 45753498 45753498 + Silent SNP C C T rs144524280 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:45753498C>T uc003tne.3 + 20 3282 c.3264C>T c.(3262-3264)CCC>CCT p.P1088P NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 1088 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GACGTCCCCCCGTGTGCCCCA 0.622000 IKZF1 10320 broad.mit.edu 37 7 50459470 50459470 + Silent SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:50459470G>T uc003tow.3 + 8 927 c.759G>T c.(757-759)CTG>CTT p.L253L IKZF1_uc003tox.3_Silent_p.L211L|IKZF1_uc003toy.3_Silent_p.L211L|IKZF1_uc011kck.1_Silent_p.L166L|IKZF1_uc003toz.3_Silent_p.L223L|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.L5L NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 253 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CAGAAGACCTGTGCAAGATAG 0.418000 D ALL ZNF680 340252 broad.mit.edu 37 7 63982821 63982821 + Missense_Mutation SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:63982821A>T uc003tta.2 - 4 484 c.311T>A c.(310-312)TTT>TAT p.F104Y ZNF680_uc010kzr.2_Missense_Mutation_p.F31Y NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) CACTTTTTGAAAAGAATCTTT 0.328000 ZNF680 340252 broad.mit.edu 37 7 63982823 63982823 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:63982823A>T uc003tta.2 - 4 482 c.309T>A c.(307-309)TCT>TCA p.S103S ZNF680_uc010kzr.2_Silent_p.S30S NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) CTTTTTGAAAAGAATCTTTTA 0.333000 WBSCR17 64409 broad.mit.edu 37 7 70800597 70800597 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:70800597G>A uc003tvy.2 + 2 300 c.300G>A c.(298-300)CCG>CCA p.P100P WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 100 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGGGCCTTCCGGCTACTCTTT 0.458000 WBSCR17 64409 broad.mit.edu 37 7 71175770 71175770 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:71175770T>G uc003tvy.2 + 10 1525 c.1525T>G c.(1525-1527)TTC>GTC p.F509V WBSCR17_uc003tvz.2_Missense_Mutation_p.F208V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 509 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAAGGAAGGCTTCCTGCACTT 0.632000 HGF 3082 broad.mit.edu 37 7 81355304 81355304 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:81355304G>T uc003uhl.2 - 9 1235 c.1070C>A c.(1069-1071)CCA>CAA p.P357Q HGF_uc003uhm.2_Missense_Mutation_p.P352Q NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 357 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 AGACCCATCTGGATTTCGGCA 0.428000 PCLO 27445 broad.mit.edu 37 7 82585193 82585193 + Nonsense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:82585193A>C uc003uhx.2 - 5 5365 c.5076T>G c.(5074-5076)TAT>TAG p.Y1692* PCLO_uc003uhv.2_Nonsense_Mutation_p.Y1692* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1623 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTCGTCAAAATACAAACTTG 0.438000 GRM3 2913 broad.mit.edu 37 7 86468784 86468784 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:86468784T>G uc003uid.2 + 4 3053 c.1954T>G c.(1954-1956)TTC>GTC p.F652V GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.F524V|GRM3_uc010leh.2_Missense_Mutation_p.F244V NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 652 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGGGAGTTCCTTCGCTATCTG 0.527000 ABCB1 5243 broad.mit.edu 37 7 87196226 87196226 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:87196226A>C uc003uiz.1 - 7 823 c.405T>G c.(403-405)TTT>TTG p.F135L ABCB1_uc011khc.1_Intron NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 135 ABC transmembrane type-1 1.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAGGCACCAAAATGAAACCT 0.423000 TFPI2 7980 broad.mit.edu 37 7 93519622 93519622 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:93519622G>A uc003umy.1 - 2 173 c.98C>T c.(97-99)GCG>GTG p.A33V GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Missense_Mutation_p.A33V|TFPI2_uc003una.1_Intron|TFPI2_uc003unb.1_Missense_Mutation_p.A33V|TFPI2_uc010lfg.1_Intron NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 33 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) ACAGATCTCCGCGTTATTTCC 0.572000 ZKSCAN1 7586 broad.mit.edu 37 7 99631029 99631029 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:99631029T>G uc003usk.1 + 6 1120 c.901T>G c.(901-903)TTT>GTT p.F301V ZKSCAN1_uc003usl.1_Missense_Mutation_p.F265V|ZKSCAN1_uc003usm.1_Missense_Mutation_p.F88V NM_003439 NP_003430 P17029 ZKSC1_HUMAN zinc finger protein 36 301 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CCAGAAAGAGTTTGGAGAGAA 0.483000 RELN 5649 broad.mit.edu 37 7 103207203 103207203 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:103207203A>C uc003vca.2 - 32 4752 c.4592T>G c.(4591-4593)CTT>CGT p.L1531R RELN_uc010liz.2_Missense_Mutation_p.L1531R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1531 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAACAATAAGCCCTGAGTT 0.408000 RELN 5649 broad.mit.edu 37 7 103275919 103275919 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:103275919A>G uc003vca.2 - 19 2578 c.2418T>C c.(2416-2418)ACT>ACC p.T806T RELN_uc010liz.2_Silent_p.T806T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 806 BNR 2. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAGTTTCCAAGTTATCCCAT 0.443000 GPR85 54329 broad.mit.edu 37 7 112724143 112724143 + Nonsense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:112724143G>A uc010ljv.2 - 2 1151 c.634C>T c.(634-636)CGA>TGA p.R212* GPR85_uc003vgp.1_Nonsense_Mutation_p.R212*|GPR85_uc003vgq.2_Nonsense_Mutation_p.R212*|GPR85_uc010ljw.1_Nonsense_Mutation_p.R212* NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 212 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 ATTTTTCTTCGATCGTGGACG 0.493000 PTPRZ1 5803 broad.mit.edu 37 7 121652018 121652018 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:121652018A>C uc003vjy.2 + 12 3313 c.2918A>C c.(2917-2919)AAG>ACG p.K973T PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 973 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CCAATACCTAAGTCTTCGTTA 0.443000 AASS 10157 broad.mit.edu 37 7 121717962 121717962 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:121717962G>A uc003vka.2 - 22 2688 c.2592C>T c.(2590-2592)ATC>ATT p.I864I AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.I864I|AASS_uc011knw.1_Silent_p.I352I NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 864 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) AAAAGCCATTGATGTCCCCAT 0.433000 TAS2R16 50833 broad.mit.edu 37 7 122635196 122635196 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:122635196T>C uc003vkl.1 - 1 559 c.493A>G c.(493-495)ACT>GCT p.T165A NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 165 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 TCAGTTACAGTGCTGTTTCTT 0.403000 CHRM2 1129 broad.mit.edu 37 7 136700570 136700570 + Missense_Mutation SNP T T A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:136700570T>A uc003vtf.1 + 4 1581 c.958T>A c.(958-960)TCT>ACT p.S320T CHRM2_uc003vtg.1_Missense_Mutation_p.S320T|CHRM2_uc003vtj.1_Missense_Mutation_p.S320T|CHRM2_uc003vtk.1_Missense_Mutation_p.S320T|CHRM2_uc003vtl.1_Missense_Mutation_p.S320T|CHRM2_uc003vtm.1_Missense_Mutation_p.S320T|CHRM2_uc003vti.1_Missense_Mutation_p.S320T|CHRM2_uc003vto.1_Missense_Mutation_p.S320T|CHRM2_uc003vtn.1_Missense_Mutation_p.S320T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 320 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AGATGAGAACTCTAAGCAAAC 0.463000 DGKI 9162 broad.mit.edu 37 7 137076050 137076050 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:137076050A>G uc003vtt.2 - 34 3115 c.3114T>C c.(3112-3114)GCT>GCC p.A1038A DGKI_uc003vtu.2_Silent_p.A707A NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 1038 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 CTGGGTCCCCAGCCTGCTGTG 0.463000 CNTNAP2 26047 broad.mit.edu 37 7 146741127 146741127 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:146741127A>C uc003weu.1 + 4 1047 c.531A>C c.(529-531)GAA>GAC p.E177D NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 177 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAGAATTGAAGTTTATGGCT 0.378000 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 146997356 146997356 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:146997356A>C uc003weu.1 + 9 1988 c.1472A>C c.(1471-1473)AAA>ACA p.K491T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 491 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTTCAAGTTAAAACTGGCGAG 0.388000 HNSCC(39;0.1) CHPF2 54480 broad.mit.edu 37 7 150932222 150932222 + Missense_Mutation SNP G G A rs138209627 TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:150932222G>A uc003wjr.1 + 2 1865 c.352G>A c.(352-354)GTG>ATG p.V118M CHPF2_uc003wjq.1_Missense_Mutation_p.V110M NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 118 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 CACTTTGGCCGTGGCTGTGAA 0.627000 UBE3C 9690 broad.mit.edu 37 7 157060400 157060400 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr7:157060400G>A uc010lqs.2 + 23 3515 c.3203G>A c.(3202-3204)AGT>AAT p.S1068N UBE3C_uc003wni.3_Missense_Mutation_p.S431N NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1068 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CTTTTGCGAAGTAAACTTCTC 0.547000 CSMD1 64478 broad.mit.edu 37 8 2806830 2806830 + Missense_Mutation SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:2806830C>G uc011kwk.1 - 68 10786 c.10396G>C c.(10396-10398)GAA>CAA p.E3466Q CSMD1_uc011kwj.1_Missense_Mutation_p.E2780Q|CSMD1_uc010lrg.2_Missense_Mutation_p.E1357Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3466 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTGCCTTTCTAGCTTAAAT 0.343000 CSMD1 64478 broad.mit.edu 37 8 2807839 2807839 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:2807839A>C uc011kwk.1 - 67 10621 c.10231T>G c.(10231-10233)TTA>GTA p.L3411V CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3411 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCAGGAGTAAGTGGGCCTCC 0.398000 BMP1 649 broad.mit.edu 37 8 22064885 22064885 + Nonsense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:22064885C>T uc003xbg.2 + 18 2675 c.2431C>T c.(2431-2433)CGA>TGA p.R811* BMP1_uc011kzc.1_Nonsense_Mutation_p.R560*|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 811 CUB 4. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GTTCGACGGGCGAGACGCCAA 0.612000 ANK1 286 broad.mit.edu 37 8 41530411 41530411 + Silent SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:41530411G>A uc003xok.2 - 38 4641 c.4557C>T c.(4555-4557)GAC>GAT p.D1519D NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.D1519D|ANK1_uc003xoj.2_Silent_p.D1519D|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.D1560D NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1519 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACAGCAGCTCGTCCTGCAGTG 0.612000 MYST3 7994 broad.mit.edu 37 8 41836209 41836209 + Missense_Mutation SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:41836209T>C uc010lxb.2 - 7 1538 c.994A>G c.(994-996)ACT>GCT p.T332A MYST3_uc010lxc.2_Missense_Mutation_p.T332A|MYST3_uc003xon.3_Missense_Mutation_p.T332A|MYST3_uc010lxd.2_Missense_Mutation_p.T332A NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 332 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) ATTGGATTAGTATAGCGCCGT 0.388000 SNTG1 54212 broad.mit.edu 37 8 51465669 51465669 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:51465669T>G uc010lxy.1 + 13 1111 c.740T>G c.(739-741)CTC>CGC p.L247R SNTG1_uc003xqs.1_Missense_Mutation_p.L247R|SNTG1_uc010lxz.1_Missense_Mutation_p.L247R|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 247 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTCAGTGCCTCTCTGCTGAA 0.428000 SOX17 64321 broad.mit.edu 37 8 55372478 55372478 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:55372478G>A uc003xsb.3 + 2 1372 c.1168G>A c.(1168-1170)GAC>AAC p.D390N NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 390 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GAATCTCCCCGACAGCCACGG 0.607000 PREX2 80243 broad.mit.edu 37 8 69005938 69005938 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:69005938T>C uc003xxv.1 + 21 2376 c.2349T>C c.(2347-2349)GCT>GCC p.A783A PREX2_uc003xxu.1_Silent_p.A783A|PREX2_uc011lez.1_Silent_p.A718A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 783 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 CAGGGGATGCTTTTGACTGTA 0.403000 JPH1 56704 broad.mit.edu 37 8 75156979 75156979 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:75156979G>C uc003yae.2 - 4 1730 c.1690C>G c.(1690-1692)CCA>GCA p.P564A JPH1_uc003yaf.2_Missense_Mutation_p.P564A|JPH1_uc003yag.1_Missense_Mutation_p.P428A NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 564 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ACGTCTACTGGAGGGTGCTGG 0.577000 CRISPLD1 83690 broad.mit.edu 37 8 75941706 75941706 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:75941706A>G uc003yan.2 + 14 1780 c.1405A>G c.(1405-1407)AGA>GGA p.R469G CRISPLD1_uc011lfk.1_Missense_Mutation_p.R281G|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R281G NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 469 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TGTGGACAAAAGAAAGACCTA 0.378000 PGCP 10404 broad.mit.edu 37 8 97797433 97797433 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc 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 UBR5 51366 broad.mit.edu 37 8 103327016 103327016 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:103327016C>T uc003ykr.1 - 15 1883 c.1850G>A c.(1849-1851)TGT>TAT p.C617Y UBR5_uc003yks.1_Missense_Mutation_p.C617Y NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 617 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCATCACTACACGTGGATGC 0.418000 ZFPM2 23414 broad.mit.edu 37 8 106800975 106800975 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:106800975G>A uc003ymd.2 + 6 585 c.562G>A c.(562-564)GCC>ACC p.A188T ZFPM2_uc011lhs.1_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 188 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AACTACGAAGGCCATCTCTGA 0.428000 ANGPT1 284 broad.mit.edu 37 8 108334268 108334268 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:108334268A>G uc003ymn.2 - 4 1132 c.664T>C c.(664-666)TTG>CTG p.L222L ANGPT1_uc011lhv.1_Silent_p.L22L|ANGPT1_uc003ymo.2_Silent_p.L222L|ANGPT1_uc003ymp.3_Silent_p.L22L NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 222 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CGAGTAACCAAGCCTTGAAGG 0.393000 CSMD3 114788 broad.mit.edu 37 8 113585834 113585834 + Missense_Mutation SNP G G T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:113585834G>T uc003ynu.2 - 24 4097 c.3938C>A c.(3937-3939)GCA>GAA p.A1313E CSMD3_uc003yns.2_Missense_Mutation_p.A585E|CSMD3_uc003ynt.2_Missense_Mutation_p.A1273E|CSMD3_uc011lhx.1_Missense_Mutation_p.A1209E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1313 Extracellular (Potential).|CUB 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 GCGCATAGATGCACCAGTAAA 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 114111188 114111188 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:114111188T>G uc003ynu.2 - 5 873 c.714A>C c.(712-714)GAA>GAC p.E238D CSMD3_uc003ynt.2_Missense_Mutation_p.E198D|CSMD3_uc011lhx.1_Missense_Mutation_p.E238D|CSMD3_uc010mcx.1_Missense_Mutation_p.E238D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 238 Extracellular (Potential). 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 CACAAGCATCTTCAGCTGTTA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116632000 116632000 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:116632000T>G uc003ynz.2 - 2 745 c.286A>C c.(286-288)AAC>CAC p.N96H TRPS1_uc011lhy.1_Missense_Mutation_p.N100H|TRPS1_uc003yny.2_Missense_Mutation_p.N109H|TRPS1_uc010mcy.2_Missense_Mutation_p.N96H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 96 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGGGAAAGTTTCCTCCCTTA 0.488000 Langer-Giedion_syndrome FAM91A1 157769 broad.mit.edu 37 8 124801870 124801870 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:124801870A>G uc003yqv.2 + 15 1357 c.1296A>G c.(1294-1296)GAA>GAG p.E432E FAM91A1_uc011lik.1_Silent_p.E432E|FAM91A1_uc011lil.1_Silent_p.E190E NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 432 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GCACTGGTGAAGGAGAAGCAC 0.363000 SCRIB 23513 broad.mit.edu 37 8 144891180 144891180 + Missense_Mutation SNP C C A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:144891180C>A uc003yzp.1 - 15 1721 c.1714G>T c.(1714-1716)GCA>TCA p.A572S SCRIB_uc003yzo.1_Missense_Mutation_p.A572S NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 572 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCGTCCTCTGCGAAATGCACC 0.652000 IFNB1 3456 broad.mit.edu 37 9 21077392 21077392 + Nonsense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:21077392G>C uc003zok.2 - 1 552 c.477C>G c.(475-477)TAC>TAG p.Y159* NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 159 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) CACAGTGACTGTACTCCTTGG 0.443000 TAF1L 138474 broad.mit.edu 37 9 32633779 32633779 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:32633779C>T uc003zrg.1 - 1 1889 c.1799G>A c.(1798-1800)CGG>CAG p.R600Q uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 600 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAAGGTGCCCCGAAGACCCTG 0.488000 RORB 6096 broad.mit.edu 37 9 77300519 77300519 + Silent SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:77300519C>T uc004aji.2 + 10 1447 c.1398C>T c.(1396-1398)GCC>GCT p.A466A RORB_uc004ajh.2_Silent_p.A455A NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 466 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CTGACTGTGCCACCGGCTGCA 0.428000 PRUNE2 158471 broad.mit.edu 37 9 79320386 79320386 + Silent SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:79320386A>G uc010mpk.2 - 8 6928 c.6804T>C c.(6802-6804)GAT>GAC p.D2268D PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2268 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GTGGATCACCATCAAACAAAG 0.463000 ROD1 9991 broad.mit.edu 37 9 114997138 114997138 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:114997138G>A uc004bfw.2 - 9 1113 c.926C>T c.(925-927)GCT>GTT p.A309V ROD1_uc004bfv.2_Missense_Mutation_p.A315V|ROD1_uc004bfx.2_Missense_Mutation_p.A312V|ROD1_uc011lwu.1_Missense_Mutation_p.A281V|ROD1_uc004bfy.2_Missense_Mutation_p.A214V|ROD1_uc004bfz.2_Missense_Mutation_p.A281V NM_005156 NP_005147 O95758 ROD1_HUMAN ROD1 regulator of differentiation 1 isoform 1 309 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding skin(1) 1 GGCAAATCCAGCAGCCCCTGC 0.378000 TLR4 7099 broad.mit.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:120475898T>G uc004bjz.2 + 3 1783 c.1492T>G c.(1492-1494)TTG>GTG p.L498V TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 498 LRR 16.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GCTGAGAAACTTGACCTTCCT 0.448000 DBC1 1620 broad.mit.edu 37 9 122075621 122075621 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:122075621A>C uc004bkc.2 - 2 469 c.13T>G c.(13-15)TTT>GTT p.F5V DBC1_uc004bkd.2_Missense_Mutation_p.F5V NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 5 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 AGCTCAACAAACCTCCAGTTC 0.418000 BAT2L1 84726 broad.mit.edu 37 9 134305594 134305594 + Silent SNP C C G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:134305594C>G uc004can.3 + 1 118 c.63C>G c.(61-63)CTC>CTG p.L21L BAT2L1_uc004cam.1_Silent_p.L21L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 21 protein binding 0 ACTCGACTCTCAGCCTGTTTG 0.453000 C9orf9 11092 broad.mit.edu 37 9 135762799 135762799 + Missense_Mutation SNP G G A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:135762799G>A uc004cbx.1 + 3 299 c.188G>A c.(187-189)CGG>CAG p.R63Q C9orf9_uc004cby.1_Missense_Mutation_p.R63Q|C9orf9_uc004cbz.1_Missense_Mutation_p.R63Q NM_018956 NP_061829 Q96E40 CI009_HUMAN Rsb-66 protein 63 p.?(1) 0 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) TCCACAGACCGGCGGGTTCTG 0.597000 CARD9 64170 broad.mit.edu 37 9 139265018 139265018 + Missense_Mutation SNP C C T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr9:139265018C>T uc004chg.3 - 5 929 c.763G>A c.(763-765)GCC>ACC p.A255T CARD9_uc011mdw.1_Missense_Mutation_p.A255T|CARD9_uc011mdx.1_Missense_Mutation_p.A151T NM_052813 NP_434700 Q9H257 CARD9_HUMAN caspase recruitment domain protein 9 isoform 1 255 Potential. positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity pancreas(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) TGGAGCAGGGCCTTCTCCTGC 0.706000 PQBP1 10084 broad.mit.edu 37 X 48759272 48759272 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:48759272A>G uc004dle.2 + 4 434 c.245A>G c.(244-246)AAC>AGC p.N82S PQBP1_uc004dlf.2_Missense_Mutation_p.N82S|PQBP1_uc004dlg.2_Missense_Mutation_p.N82S|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.N82S|PQBP1_uc004dli.2_Missense_Mutation_p.N82S|PQBP1_uc004dlj.1_Missense_Mutation_p.N82S|PQBP1_uc004dln.2_Missense_Mutation_p.N82S|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.N40S|PQBP1_uc004dlk.2_Missense_Mutation_p.N82S|PQBP1_uc004dll.2_Missense_Mutation_p.N44S|PQBP1_uc004dlm.2_Missense_Mutation_p.N40S|PQBP1_uc010nij.2_Intron NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 CATGACCCCAACTCCGTGGTT 0.542000 GSPT2 23708 broad.mit.edu 37 X 51487269 51487269 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:51487269A>G uc004dpl.2 + 1 773 c.547A>G c.(547-549)AAA>GAA p.K183E NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 183 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) GATGGAGGAAAAAGAGGAAAT 0.478000 MED12 9968 broad.mit.edu 37 X 70360572 70360572 + Silent SNP A A T TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:70360572A>T uc004dyy.2 + 42 6331 c.6132A>T c.(6130-6132)TCA>TCT p.S2044S MED12_uc004dyz.2_Silent_p.S2043S|MED12_uc004dza.2_Silent_p.S1894S|MED12_uc010nla.2_Silent_p.S673S NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 2044 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GCGTCCGTTCAACAGCCATCC 0.313000 MAGEE2 139599 broad.mit.edu 37 X 75004270 75004270 + Missense_Mutation SNP A A G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:75004270A>G uc004ecj.1 - 1 802 c.617T>C c.(616-618)GTT>GCT p.V206A NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 206 MAGE 1. ovary(1)|skin(1) 2 CCACATATCAACTTTTAGCAG 0.498000 KLHL4 56062 broad.mit.edu 37 X 86877393 86877393 + Silent SNP T T C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:86877393T>C uc004efb.2 + 5 1289 c.1107T>C c.(1105-1107)TCT>TCC p.S369S KLHL4_uc004efa.2_Silent_p.S369S NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 369 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGCTGCTTTCTTACATCAGAC 0.413000 GPRASP2 114928 broad.mit.edu 37 X 101970603 101970603 + Missense_Mutation SNP G G C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:101970603G>C uc004ejk.2 + 4 2140 c.806G>C c.(805-807)AGG>ACG p.R269T GPRASP2_uc004ejl.2_Missense_Mutation_p.R269T|GPRASP2_uc004ejm.2_Missense_Mutation_p.R269T|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 269 cytoplasm protein binding ovary(1) 1 CCCAGGTCCAGGCCCAGATCC 0.507000 SERPINA7 6906 broad.mit.edu 37 X 105281009 105281009 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:105281009A>C uc004eme.1 - 1 57 c.41T>G c.(40-42)CTT>CGT p.L14R SERPINA7_uc010npd.2_Missense_Mutation_p.L14R|SERPINA7_uc010npe.1_Missense_Mutation_p.L14R NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 14 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TGTAGCATGAAGCCCAAGTAC 0.438000 RGAG1 57529 broad.mit.edu 37 X 109696914 109696914 + Silent SNP T T G TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:109696914T>G uc004eor.1 + 3 3315 c.3069T>G c.(3067-3069)GCT>GCG p.A1023A RGAG1_uc011msr.1_Silent_p.A1023A NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1023 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GAGCCTCTGCTTCTGGAGCAA 0.498000 ACTRT1 139741 broad.mit.edu 37 X 127185305 127185305 + Missense_Mutation SNP A A C TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chrX:127185305A>C uc004eum.2 - 1 1078 c.881T>G c.(880-882)CTT>CGT p.L294R NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 294 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 GTCTGCATAAAGTTTATTCTG 0.522000 RIMS2 9699 broad.mit.edu 37 8 105263942 105263942 + Frame_Shift_Del DEL T T - TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr8:105263941_105263941CT>C uc003yls.3 + 27 4238 c.3997_3997CT>C c.(3997-3999)cttfs p.L1333fs RIMS2_uc003ylp.3_Frame_Shift_Del_p.L1315fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.L1129fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.L1154fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1377 C2 2. intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGGTTCAAACTTTTCCCACC 0.463 HNSCC(12;0.0054) FADS3 3995 broad.mit.edu 37 11 61643386 61643387 + In_Frame_Ins INS - - CACAGC TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr11:61643385_61643386A>ACACAGC uc001nsm.3 - 10 1376_1377 c.1223_1224T>GCTGTGT c.(1222-1224)tgt>tGCTGTGT p.408_408C>CC NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN Homo sapiens fatty acid desaturase 3 (FADS3), mRNA. 408 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CGTGCTTGGCACACAGCGACTT 0.649 DCT 1638 broad.mit.edu 37 13 95121040 95121041 + Frame_Shift_Ins INS - - A TCGA-BR-8297-01A-12D-2340-08 TCGA-BR-8297-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 722132ab-435b-4269-ac2b-ff9c6ca573ca d576b3d8-afd5-4475-ac9b-b23933dc84bc g.chr13:95121039_95121040C>CA uc010afh.3 - 1 982_983 c.555_556G>TG c.(553-558)tttgtgfs p.F185fs DCT_uc001vlv.4_Frame_Shift_Ins_p.F185fs NM_001129889 NP_001123361 P40126 TYRP2_HUMAN Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA. 185 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TGGAGCCACACAAAAAAATCAT 0.450