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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CAMTA1 23261 broad.mit.edu 37 1 7805023 7805023 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:7805023G>C uc001aoi.2 + 17 4518 c.4311G>C c.(4309-4311)ATG>ATC p.M1437I CAMTA1_uc010nzv.1_Missense_Mutation_p.M524I|CAMTA1_uc001aok.3_Missense_Mutation_p.M480I|CAMTA1_uc001aoj.2_Missense_Mutation_p.M393I|CAMTA1_uc009vmf.2_Missense_Mutation_p.M41I NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1437 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCAGTACAATGAGCTGGCTGG 0.517 NA 4 65 0 0 0.00024832 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836075 12836075 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:12836075T>A uc001aui.2 + 2 704 c.677T>A c.(676-678)CTG>CAG p.L226Q NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 226 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCTTACCTGGGCCAGATG 0.522 NA 28 85 0 0 0.000878237 0 0 CELA2A 63036 broad.mit.edu 37 1 15783627 15783627 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:15783627G>T uc001awk.2 + 2 113 c.87G>T c.(85-87)GTG>GTT p.V29V NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 29 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 TGACTAGGGTGGTTGGCGGTG 0.567 NA 8 30 1.58986e-06 5.52161e-06 0.000673444 1 0 IL22RA1 58985 broad.mit.edu 37 1 24454646 24454646 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:24454646C>A uc001biq.1 - 5 694 c.655G>T c.(655-657)GTG>TTG p.V219L IL22RA1_uc010oeg.1_Missense_Mutation_p.V111L|IL22RA1_uc009vrb.1_Missense_Mutation_p.V83L|IL22RA1_uc010oeh.1_Missense_Mutation_p.V219L NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 219 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) AGTGTCTTCACTCGGCACATG 0.547 NA 4 23 0.00024832 0.000757292 0.00024832 1 0 HMGB4 127540 broad.mit.edu 37 1 34330269 34330269 + Silent SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:34330269C>G uc001bxp.2 + 2 2220 c.477C>G c.(475-477)CTC>CTG p.L159L CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Silent_p.L85L NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 159 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AACTTGAACTCTACCGTAAAC 0.488 NA 5 32 0 0 0.00116845 0 0 ZMYM4 9202 broad.mit.edu 37 1 35862216 35862216 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:35862216T>A uc001byt.2 + 19 3055 c.2975T>A c.(2974-2976)ATA>AAA p.I992K ZMYM4_uc009vuu.2_Missense_Mutation_p.I960K|ZMYM4_uc001byu.2_Missense_Mutation_p.I668K|ZMYM4_uc009vuv.2_Missense_Mutation_p.I731K NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 992 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTGTTCCCATACCTCTTCAC 0.393 NA 18 73 0 0 0.00121646 0 0 KIAA0467 23334 broad.mit.edu 37 1 43896264 43896264 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:43896264A>G uc001cjk.1 + 17 2343 c.1881A>G c.(1879-1881)CTA>CTG p.L627L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1526 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGCTGGGCTAGACTCTGCCT 0.567 NA 10 51 0 0 0.00185496 0 0 FAF1 11124 broad.mit.edu 37 1 50941222 50941222 + Missense_Mutation SNP T T G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:50941222T>G uc009vyx.1 - 19 1846 c.1783A>C c.(1783-1785)AAG>CAG p.K595Q FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.K595Q|FAF1_uc010onc.1_Missense_Mutation_p.K353Q NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 595 UBX. apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) ATCTGGAGCTTGTTGCTGGCC 0.512 NA 7 49 0 0 0.00198382 0 0 EPS15 2060 broad.mit.edu 37 1 51869091 51869091 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:51869091C>A uc001csq.1 - 17 1883 c.1791G>T c.(1789-1791)GAG>GAT p.E597D EPS15_uc009vyz.1_Missense_Mutation_p.E463D|EPS15_uc001csp.3_Missense_Mutation_p.E283D NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 597 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 CATTTTTTACCTCTTTTGAAT 0.204 NA T MLL ALL 7 52 2.7689e-08 1.06575e-07 0.00198382 1 0 DMRTB1 63948 broad.mit.edu 37 1 53930460 53930460 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:53930460C>A uc001cvq.1 + 3 956 c.901C>A c.(901-903)CCA>ACA p.P301T NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 301 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCCACCGCCACCACCACCTCC 0.557 NA 7 71 5.18039e-06 1.7629e-05 0.00307968 1 0 SGIP1 84251 broad.mit.edu 37 1 67147941 67147941 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:67147941G>C uc001dcr.2 + 15 1421 c.1204G>C c.(1204-1206)GAT>CAT p.D402H SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.D169H NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 402 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 ATCTCCTAAAGATTTTGGGTT 0.512 NA 16 84 0 0 0.00400662 0 0 GBP4 115361 broad.mit.edu 37 1 89655932 89655932 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:89655932G>A uc001dnb.2 - 7 1102 c.986C>T c.(985-987)GCA>GTA p.A329V NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 329 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TGCTGTCACTGCATTCTCCAG 0.537 NA 15 44 0 0 0.00074312 0 0 HFM1 164045 broad.mit.edu 37 1 91739299 91739299 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:91739299T>C uc001doa.3 - 34 3842 c.3742A>G c.(3742-3744)AGA>GGA p.R1248G HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R927G|HFM1_uc001dob.3_Missense_Mutation_p.R436G|HFM1_uc010osv.1_Missense_Mutation_p.R932G NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1248 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GGTTCTTGTCTAACTTTTCCA 0.318 NA 16 60 0 0 0.000958276 0 0 OLFM3 118427 broad.mit.edu 37 1 102269968 102269969 + Nonsense_Mutation DNP GG GG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:102269968_102269969GG>TT uc001duf.2 - 6 1333_1334 c.1262_1263CC>AA c.(1261-1263)TCC>TAA p.S421* OLFM3_uc001dug.2_Nonsense_Mutation_p.S401*|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Nonsense_Mutation_p.S326*|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 421 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGGTTTTGGTGGAATAGGAATA 0.446 NA 21 164 0 0 6.4e-05 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784921 149784921 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:149784921C>T uc010pbl.1 - 1 316 c.316G>A c.(316-318)GAA>AAA p.E106K HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 106 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 TTCGTGTCTTCGAACAGCCCC 0.652 NA 6 32 0 0 0.00116845 0 0 HORMAD1 84072 broad.mit.edu 37 1 150681431 150681431 + Missense_Mutation SNP A A C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:150681431A>C uc001evk.1 - 8 440 c.334T>G c.(334-336)TCA>GCA p.S112A HORMAD1_uc001evl.1_Missense_Mutation_p.S105A|HORMAD1_uc001evm.1_Missense_Mutation_p.S32A NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 112 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TAACATTCTGAAATTGTCTTA 0.303 NA 5 45 0 0 0.00116845 0 0 FLG 2312 broad.mit.edu 37 1 152280118 152280119 + Missense_Mutation DNP AG AG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:152280118_152280119AG>TT uc001ezu.1 - 3 7279_7280 c.7243_7244CT>AA c.(7243-7245)CTC>AAC p.L2415N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2415 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACCTGGTAGAGGAAAGACCCT 0.614 NA Ichthyosis 27 143 0 0 6.4e-05 0 0 FLG2 388698 broad.mit.edu 37 1 152324228 152324228 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:152324228G>T uc001ezw.3 - 3 6107 c.6034C>A c.(6034-6036)CAT>AAT p.H2012N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2012 Filaggrin 9. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGTCCATGACCAGAGTGG 0.527 NA 91 235 1.42479e-40 7.31895e-40 0.00361006 1 0 FLG2 388698 broad.mit.edu 37 1 152325056 152325056 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:152325056C>A uc001ezw.3 - 3 5279 c.5206G>T c.(5206-5208)GGG>TGG p.G1736W uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1736 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGAGTACCCTTCACTGTCA 0.488 NA 70 219 8.29215e-51 4.29222e-50 0.00361006 1 0 LCE3A 353142 broad.mit.edu 37 1 152595328 152595328 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:152595328A>G uc010pdt.1 - 1 252 c.252T>C c.(250-252)AGT>AGC p.S84S NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 84 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCCGCAGAACTGTGGCCAC 0.547 NA 7 54 0 0 0.00198382 0 0 BCAN 63827 broad.mit.edu 37 1 156628521 156628521 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:156628521G>A uc001fpp.2 + 13 2960 c.2624G>A c.(2623-2625)AGA>AAA p.R875K NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 875 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) GTGCCCAGAAGACCTGTGAGT 0.468 NA 11 38 0 0 0.000978159 0 0 CD1A 909 broad.mit.edu 37 1 158225793 158225793 + Splice_Site SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:158225793G>C uc001frt.2 + 3 859 c.326_splice c.e3-1 p.Y109_splice NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CATAACCCCAGATCCTTTTGA 0.423 NA 18 75 0 0 0.00121646 0 0 MNDA 4332 broad.mit.edu 37 1 158813834 158813834 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:158813834C>A uc001fsz.1 + 4 692 c.492C>A c.(490-492)GCC>GCA p.A164A NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 164 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) CCTCAGGAGCCAGCACATCTG 0.488 NA 30 79 8.88839e-20 4.25823e-19 0.00209593 1 0 CACNA1E 777 broad.mit.edu 37 1 181452918 181452918 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:181452918G>T uc001gow.2 + 1 203 c.38G>T c.(37-39)GGG>GTG p.G13V NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 13 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCCAGGCCAGGGTCCGGCGAT 0.652 NA 11 22 1.36491e-13 6.20874e-13 0.00185496 1 0 HMCN1 83872 broad.mit.edu 37 1 186008104 186008104 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:186008104G>T uc001grq.1 + 38 6224 c.5995G>T c.(5995-5997)GCT>TCT p.A1999S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1999 Ig-like C2-type 17. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTCAGCTGGAGCTACAGAGTT 0.408 NA 18 81 2.35188e-11 1.0087e-10 0.00074312 1 0 ZBTB41 360023 broad.mit.edu 37 1 197150178 197150178 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:197150178C>G uc001gtx.1 - 5 1685 c.1616G>C c.(1615-1617)TGT>TCT p.C539S ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 539 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 ACCATGAGTACATTCTATATG 0.358 NA 14 60 0 0 0.00185496 0 0 KDM5B 10765 broad.mit.edu 37 1 202711841 202711841 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:202711841C>G uc001gyf.2 - 17 2532 c.2416G>C c.(2416-2418)GAT>CAT p.D806H KDM5B_uc009xag.2_Missense_Mutation_p.D842H|KDM5B_uc001gyg.1_Missense_Mutation_p.D648H NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 806 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 TTCTCTGCATCCTGTGTGACT 0.458 NA 25 89 0 0 0.00395357 0 0 CR2 1380 broad.mit.edu 37 1 207646412 207646412 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:207646412C>A uc001hfw.2 + 10 1960 c.1866C>A c.(1864-1866)TAC>TAA p.Y622* CR2_uc001hfv.2_Nonsense_Mutation_p.Y622*|CR2_uc009xch.2_Nonsense_Mutation_p.Y622*|CR2_uc009xci.1_Nonsense_Mutation_p.Y107* NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 622 Sushi 10.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CATATTTCTACAATGACACTG 0.438 NA 14 71 4.36969e-10 1.77815e-09 0.00185496 1 0 MARK1 4139 broad.mit.edu 37 1 220825454 220825454 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:220825454G>C uc001hmn.3 + 15 2295 c.1698G>C c.(1696-1698)CTG>CTC p.L566L MARK1_uc009xdw.2_Silent_p.L566L|MARK1_uc010pun.1_Silent_p.L566L|MARK1_uc001hmm.3_Silent_p.L544L NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 566 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AAGTCACACTGCCAACCATTA 0.473 NA 13 78 0 0 0.00244969 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717364 222717364 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:222717364C>A uc001hnh.1 - 2 547 c.489G>T c.(487-489)AGG>AGT p.R163S NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 163 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GGGTACCGTCCCTTCCATGAG 0.567 NA 14 46 0.000151284 0.000470934 0.00185496 1 0 AGT 183 broad.mit.edu 37 1 230841707 230841707 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:230841707G>T uc001hty.3 - 3 1604 c.1096C>A c.(1096-1098)CTC>ATC p.L366I AGT_uc009xfe.2_Missense_Mutation_p.L366I|AGT_uc009xff.2_Missense_Mutation_p.L338I NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 366 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) ATCCAGTTGAGGGAGTTTTGC 0.607 NA 20 75 4.35082e-09 1.71369e-08 0.00152264 1 0 AGT 183 broad.mit.edu 37 1 230846414 230846414 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:230846414C>A uc001hty.3 - 2 691 c.183G>T c.(181-183)AAG>AAT p.K61N AGT_uc009xfe.2_Missense_Mutation_p.K61N|AGT_uc009xff.2_Intron NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 61 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) GGTCTTTGGGCTTCCCGGCAT 0.572 NA 6 33 8.12818e-05 0.000254784 0.00198382 1 0 C1orf101 257044 broad.mit.edu 37 1 244747191 244747191 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:244747191G>T uc001iam.2 + 13 2094 c.2035G>T c.(2035-2037)GTT>TTT p.V679F C1orf101_uc001iak.1_Missense_Mutation_p.V233F|C1orf101_uc001ial.2_Missense_Mutation_p.V679F|C1orf101_uc010pym.1_Missense_Mutation_p.V528F|C1orf101_uc010pyn.1_Missense_Mutation_p.V612F NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 679 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TCTTGTGCTGGTTCAGTTTCG 0.423 NA 14 26 0.000219431 0.000672226 0.00244969 1 0 OR2B11 127623 broad.mit.edu 37 1 247614745 247614745 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:247614745G>C uc010pyx.1 - 1 540 c.540C>G c.(538-540)AAC>AAG p.N180K NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CACAGAAAAAGTTGTTCAGCA 0.592 NA 5 19 0 0 0.00116845 0 0 OR2L2 26246 broad.mit.edu 37 1 248201833 248201833 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248201833C>G uc001idw.2 + 1 360 c.264C>G c.(262-264)AAC>AAG p.N88K OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 88 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) tgtatggaaacaagtctatct 0.303 NA 46 220 0 0 0.0025221 0 0 OR2L2 26246 broad.mit.edu 37 1 248202089 248202089 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248202089A>G uc001idw.2 + 1 616 c.520A>G c.(520-522)AAT>GAT p.N174D OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 174 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) CAGAGCCATCAATCATTTTTT 0.428 NA 72 201 0 0 0.00361006 0 0 OR2L3 391192 broad.mit.edu 37 1 248224498 248224498 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248224498C>G uc001idx.1 + 1 515 c.515C>G c.(514-516)GCC>GGC p.A172G OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) CAATCCAGGGCCATCAATCAT 0.468 NA 31 131 0 0 0.00178596 0 0 OR2L3 391192 broad.mit.edu 37 1 248224827 248224827 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248224827C>A uc001idx.1 + 1 844 c.844C>A c.(844-846)CCA>ACA p.P282T OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) CACCCTCACTCCAATGCTCAA 0.488 NA 21 63 5.45024e-15 2.52167e-14 0.00332997 1 0 OR14C36 127066 broad.mit.edu 37 1 248512663 248512663 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248512663T>C uc010pzl.1 + 1 587 c.587T>C c.(586-588)ATG>ACG p.M196T NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AATGAGGTCATGATTGTTGTC 0.493 NA 13 71 0 0 0.00185496 0 0 OR14C36 127066 broad.mit.edu 37 1 248512671 248512671 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248512671G>T uc010pzl.1 + 1 595 c.595G>T c.(595-597)GTC>TTC p.V199F NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CATGATTGTTGTCTCTGCTCT 0.488 NA 11 71 5.50884e-06 1.84676e-05 0.00136819 1 0 OR2T6 254879 broad.mit.edu 37 1 248551233 248551233 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248551233G>T uc001iei.1 + 1 324 c.324G>T c.(322-324)ATG>ATT p.M108I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGGCTTTATGGGGGCTGAAT 0.562 NA 12 67 6.40141e-05 0.00020349 0.000978159 1 0 OR2T1 26696 broad.mit.edu 37 1 248570293 248570294 + Missense_Mutation DNP CC CC AA TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248570293_248570294CC>AA uc010pzm.1 + 1 998_999 c.998_999CC>AA c.(997-999)CCC>CAA p.P333Q NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 333 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(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) ATTCTCACACCCATGCTGAACC 0.525 NA 27 122 0 0 6.4e-05 0 0 OR2T3 343173 broad.mit.edu 37 1 248637474 248637474 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248637474C>A uc001iel.1 + 1 823 c.823C>A c.(823-825)CAG>AAG p.Q275K NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(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) CACAGCTGAGCAGGACATGAT 0.542 NA 36 266 1.59932e-28 8.03229e-28 0.00170553 1 0 OR2T5 401993 broad.mit.edu 37 1 248652006 248652006 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:248652006C>A uc001iem.1 + 1 117 c.117C>A c.(115-117)TTC>TTA p.F39L NM_001004697 NP_001004697 Q6IEZ7 OR2T5_HUMAN olfactory receptor, family 2, subfamily T, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) TTGTGGTTTTCCTGAAGGCGT 0.478 NA 16 108 2.19358e-23 1.08554e-22 0.00111076 1 0 ANKRD16 54522 broad.mit.edu 37 10 5927686 5927686 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:5927686C>A uc010qat.1 - 3 1121 c.578G>T c.(577-579)AGG>ATG p.R193M ANKRD16_uc009xie.2_Missense_Mutation_p.R193M|ANKRD16_uc009xif.2_Missense_Mutation_p.R193M|ANKRD16_uc001iiq.2_Missense_Mutation_p.R193M NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 193 ANK 5. 0 ttgttcttacctcttaaGAAG 0.214 NA 7 30 5.18039e-06 1.7629e-05 0.00307968 1 0 FBXO18 84893 broad.mit.edu 37 10 5960359 5960359 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:5960359C>A uc001iis.2 + 13 2113 c.2018C>A c.(2017-2019)CCG>CAG p.P673Q FBXO18_uc001iir.2_Missense_Mutation_p.P599Q|FBXO18_uc009xig.2_Missense_Mutation_p.P599Q|FBXO18_uc001iit.2_Missense_Mutation_p.P724Q NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 673 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GTAGGGGACCCGCACCAGCAG 0.537 NA 7 98 0.00307968 0.00896691 0.00307968 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255673 15255673 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:15255673C>A uc001iob.2 - 8 1921 c.1914G>T c.(1912-1914)CTG>CTT p.L638L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 638 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCTGGGAAGACAGGGGCTGGG 0.602 NA 16 22 0.000308642 0.000932831 0.00316338 1 0 ITGA8 8516 broad.mit.edu 37 10 15600165 15600165 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:15600165C>T uc001ioc.1 - 26 2674 c.2674G>A c.(2674-2676)GCC>ACC p.A892T ITGA8_uc010qcb.1_Missense_Mutation_p.A877T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 892 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CGCAAAAAGGCGCTGAGCTCA 0.458 NA 12 40 0 0 0.00185496 0 0 YME1L1 10730 broad.mit.edu 37 10 27409370 27409370 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:27409370C>A uc001iti.2 - 14 1758 c.1576G>T c.(1576-1578)GAT>TAT p.D526Y YME1L1_uc001itj.2_Missense_Mutation_p.D469Y|YME1L1_uc010qdl.1_Missense_Mutation_p.D436Y|YME1L1_uc009xkv.2_Intron NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 526 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TTACATTGATCAAACTTTATT 0.333 NA 11 40 9.70103e-10 3.92398e-09 0.000673444 1 0 LOC387646 387646 broad.mit.edu 37 10 27539200 27539200 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:27539200G>T uc001its.2 - 1 2036 c.193C>A c.(193-195)CAT>AAT p.H65N NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 TGAGTTTGATGGTGACCTGGA 0.532 NA 19 82 2.94398e-08 1.12354e-07 0.000958276 1 0 MTPAP 55149 broad.mit.edu 37 10 30615418 30615418 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:30615418C>A uc001iva.3 - 5 990 c.927G>T c.(925-927)CGG>CGT p.R309R MTPAP_uc001ivb.3_Silent_p.R439R NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 309 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 CGAGCGGACACCGGGCATTTA 0.443 NA 15 108 0.000219431 0.000672226 0.00244969 1 0 RET 5979 broad.mit.edu 37 10 43610004 43610004 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:43610004G>C uc001jal.2 + 11 2146 c.1956G>C c.(1954-1956)CTG>CTC p.L652L RET_uc001jak.1_Silent_p.L652L|RET_uc010qez.1_Silent_p.L398L NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 652 Helical; (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CGGTGCTGCTGTCTGCCTTCT 0.627 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 8 42 0 0 0.00307968 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819098 50819098 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:50819098G>A uc001jhw.2 + 1 752 c.312G>A c.(310-312)GCG>GCA p.A104A CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 104 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CGACAGCTGCGTGGCCAGCGG 0.682 NA 9 30 0 0 0.00448238 0 0 PCDH15 65217 broad.mit.edu 37 10 55582648 55582648 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:55582648C>G uc001jju.1 - 33 5233 c.4838G>C c.(4837-4839)GGA>GCA p.G1613A PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.G1610A|PCDH15_uc010qhw.1_Missense_Mutation_p.G1573A|PCDH15_uc010qhx.1_Missense_Mutation_p.G1544A|PCDH15_uc010qhy.1_Missense_Mutation_p.G1620A|PCDH15_uc010qhz.1_Missense_Mutation_p.G1615A|PCDH15_uc010qia.1_Missense_Mutation_p.G1593A|PCDH15_uc010qib.1_Missense_Mutation_p.G1590A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1613 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) TGTACAGATTCCAGTGTTTTC 0.433 NA HNSCC(58;0.16) 26 106 0 0 0.00465635 0 0 PCDH15 65217 broad.mit.edu 37 10 55826597 55826597 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:55826597C>A uc001jju.1 - 18 2535 c.2140G>T c.(2140-2142)GCT>TCT p.A714S PCDH15_uc010qhq.1_Missense_Mutation_p.A719S|PCDH15_uc010qhr.1_Missense_Mutation_p.A714S|PCDH15_uc010qhs.1_Missense_Mutation_p.A726S|PCDH15_uc010qht.1_Missense_Mutation_p.A721S|PCDH15_uc010qhu.1_Missense_Mutation_p.A714S|PCDH15_uc001jjv.1_Missense_Mutation_p.A692S|PCDH15_uc010qhv.1_Missense_Mutation_p.A714S|PCDH15_uc010qhw.1_Missense_Mutation_p.A677S|PCDH15_uc010qhx.1_Missense_Mutation_p.A643S|PCDH15_uc010qhy.1_Missense_Mutation_p.A719S|PCDH15_uc010qhz.1_Missense_Mutation_p.A714S|PCDH15_uc010qia.1_Missense_Mutation_p.A692S|PCDH15_uc010qib.1_Missense_Mutation_p.A692S|PCDH15_uc001jjw.2_Missense_Mutation_p.A714S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 714 Cadherin 6.|Extracellular (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) AACACTGGAGCATTGTCATTG 0.363 NA HNSCC(58;0.16) 11 75 5.16669e-11 2.18815e-10 0.000978159 1 0 SUPV3L1 6832 broad.mit.edu 37 10 70956824 70956824 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:70956824G>T uc001jpe.1 + 8 1063 c.1008G>T c.(1006-1008)ACG>ACT p.T336T SUPV3L1_uc010qjd.1_Silent_p.T205T NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 336 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 TGTACACAACGGGGGAGGAAG 0.473 NA 17 86 4.96729e-08 1.87978e-07 0.00121646 1 0 PSAP 5660 broad.mit.edu 37 10 73591639 73591639 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:73591639G>A uc001jsm.2 - 3 317 c.213C>T c.(211-213)ACC>ACT p.T71T NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 71 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 CACCAGCTGCGGTGACAACGT 0.517 NA 29 95 0 0 0.0024448 0 0 LRIT2 340745 broad.mit.edu 37 10 85984201 85984201 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:85984201G>T uc001kcy.2 - 2 788 c.780C>A c.(778-780)GCC>GCA p.A260A LRIT2_uc010qmc.1_Silent_p.A260A NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 260 Ig-like. integral to membrane ovary(2) 2 TGGTGATATTGGCACTGGGGG 0.542 NA 13 54 2.31682e-05 7.5241e-05 0.00316338 1 0 RNLS 55328 broad.mit.edu 37 10 90074241 90074241 + Silent SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:90074241T>C uc001kfe.2 - 6 993 c.858A>G c.(856-858)CAA>CAG p.Q286Q RNLS_uc010qms.1_Silent_p.Q203Q|RNLS_uc001kfd.2_Silent_p.Q286Q|RNLS_uc009xtj.2_Silent_p.Q118Q NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 286 extracellular region oxidoreductase activity ovary(1) 1 GTCTCCATTTTTGGCATTTGG 0.418 NA 24 70 0 0 0.00106085 0 0 KIF20B 9585 broad.mit.edu 37 10 91488933 91488933 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:91488933G>T uc001kgs.1 + 18 2392 c.2320G>T c.(2320-2322)GAT>TAT p.D774Y KIF20B_uc001kgr.1_Missense_Mutation_p.D734Y|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 774 Potential. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AAATATAATTGATCAAAAAGA 0.244 NA 9 57 0.000442599 0.0013229 0.000442599 1 0 MYOF 26509 broad.mit.edu 37 10 95141111 95141111 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:95141111G>T uc001kin.2 - 20 1864 c.1741C>A c.(1741-1743)CAT>AAT p.H581N MYOF_uc001kio.2_Missense_Mutation_p.H568N|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 581 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GTGGCTGAATGAAACACGGCA 0.448 NA 15 43 0.000422831 0.0012751 0.00400662 1 0 LGI1 9211 broad.mit.edu 37 10 95518028 95518028 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:95518028C>A uc001kjc.3 + 1 463 c.127C>A c.(127-129)CCT>ACT p.P43T LGI1_uc010qnv.1_Missense_Mutation_p.P43T|LGI1_uc001kjd.3_Missense_Mutation_p.P43T|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 43 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) GCCAAAATGCCCTGCCGTGTG 0.463 NA 17 97 6.49762e-13 2.89712e-12 0.00074312 1 0 COL17A1 1308 broad.mit.edu 37 10 105815145 105815145 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:105815145T>A uc001kxr.2 - 19 1871 c.1702A>T c.(1702-1704)AGC>TGC p.S568C COL17A1_uc010qqv.1_Missense_Mutation_p.S552C NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 568 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCAGGGCTTCCTCGGAGA 0.353 NA 16 61 0 0 0.00400662 0 0 C10orf79 80217 broad.mit.edu 37 10 105990542 105990542 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:105990542T>A uc001kxw.2 - 2 241 c.125A>T c.(124-126)TAC>TTC p.Y42F C10orf79_uc001kxx.3_Missense_Mutation_p.Y42F|C10orf79_uc001kxy.1_Missense_Mutation_p.Y42F|C10orf79_uc001kxz.2_Missense_Mutation_p.Y42F NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 42 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) CCCACAAGGGTAGCAAATGGT 0.358 NA 10 72 0 0 0.000673444 0 0 DMBT1 1755 broad.mit.edu 37 10 124396776 124396776 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:124396776C>G uc001lgk.1 + 51 6609 c.6503C>G c.(6502-6504)CCG>CGG p.P2168R DMBT1_uc001lgl.1_Missense_Mutation_p.P2158R|DMBT1_uc001lgm.1_Missense_Mutation_p.P1540R|DMBT1_uc009xzz.1_Missense_Mutation_p.P2167R|DMBT1_uc010qtx.1_Missense_Mutation_p.P888R|DMBT1_uc009yab.1_Missense_Mutation_p.P871R|DMBT1_uc009yac.1_Missense_Mutation_p.P462R NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2168 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CAGATAACGCCGAACCTGGTG 0.517 Ovarian(182;93 2026 18125 22222 38972) NA 3 18 0 0 6.4e-05 0 0 MTG1 92170 broad.mit.edu 37 10 135233639 135233639 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr10:135233639G>T uc001lnd.2 + 11 1079 c.975G>T c.(973-975)CGG>CGT p.R325R MTG1_uc010qve.1_Silent_p.R190R NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 325 mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) ACGTCCTGCGGGGCCACCCCC 0.637 NA 10 20 0.000442599 0.0013229 0.000442599 1 0 MUC5B 727897 broad.mit.edu 37 11 1268767 1268767 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:1268767C>A uc009ycr.1 + 50 12367 c.12241C>A c.(12241-12243)CTG>ATG p.L4081M MUC5B_uc001ltb.2_Missense_Mutation_p.L3556M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3553 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). 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) CACCTCGACCCTGCTGCCCAG 0.682 NA 5 41 8.12818e-05 0.000254784 0.00198382 1 0 TRAF6 7189 broad.mit.edu 37 11 36512083 36512083 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:36512083C>A uc001mwr.1 - 8 1214 c.874G>T c.(874-876)GTC>TTC p.V292F TRAF6_uc001mws.1_Missense_Mutation_p.V292F NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 292 Potential.|Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) AAATTCCGGACCTCTGAGATA 0.483 NA 24 88 2.65835e-16 1.24271e-15 0.00127121 1 0 MADD 8567 broad.mit.edu 37 11 47296557 47296557 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:47296557C>G uc001ner.1 + 3 697 c.506C>G c.(505-507)TCC>TGC p.S169C MADD_uc001neq.2_Missense_Mutation_p.S169C|MADD_uc001nev.1_Missense_Mutation_p.S169C|MADD_uc001nes.1_Missense_Mutation_p.S169C|MADD_uc001net.1_Missense_Mutation_p.S169C|MADD_uc009yln.1_Missense_Mutation_p.S169C|MADD_uc001neu.1_Missense_Mutation_p.S169C|MADD_uc001nex.2_Missense_Mutation_p.S169C|MADD_uc001nez.2_Missense_Mutation_p.S169C|MADD_uc001new.2_Missense_Mutation_p.S169C NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 169 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GGGAGCCGCTCCCGCAACAGT 0.602 NA 7 33 0 0 0.00448238 0 0 OR4B1 119765 broad.mit.edu 37 11 48238420 48238420 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:48238420C>A uc010rhs.1 + 1 59 c.59C>A c.(58-60)GCT>GAT p.A20D NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 CAGGATCCAGCTGTGCAGAGT 0.507 NA 17 67 1.78486e-19 8.52067e-19 0.000958276 1 0 OR4A16 81327 broad.mit.edu 37 11 55110821 55110821 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:55110821G>T uc010rie.1 + 1 145 c.145G>T c.(145-147)GGC>TGC p.G49C NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GACTACTATTGGCAGCCCCTC 0.413 NA 19 87 2.94398e-08 1.12354e-07 0.000958276 1 0 OR4A16 81327 broad.mit.edu 37 11 55111429 55111429 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:55111429C>A uc010rie.1 + 1 753 c.753C>A c.(751-753)CCC>CCA p.P251P NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TTTTTGTTCCCTGTATTTTTA 0.373 NA 12 57 9.31168e-06 3.09854e-05 0.00185496 1 0 OR5M9 390162 broad.mit.edu 37 11 56230095 56230095 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:56230095G>T uc010rjj.1 - 1 783 c.783C>A c.(781-783)CCC>CCA p.P261P NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATTCCTCAGTGGGTCTCCTGA 0.493 NA 8 38 0.000157383 0.000488793 0.00307968 1 0 OR5B3 441608 broad.mit.edu 37 11 58170847 58170847 + Silent SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:58170847A>T uc010rkf.1 - 1 36 c.36T>A c.(34-36)CTT>CTA p.L12L NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTAGTCCTAGAAGAATGAATT 0.383 NA 19 89 0 0 0.00152264 0 0 GLYAT 10249 broad.mit.edu 37 11 58478071 58478071 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:58478071G>T uc001nnb.2 - 5 635 c.480C>A c.(478-480)CCC>CCA p.P160P GLYAT_uc001nnc.2_Silent_p.P160P NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 160 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ACATGGCCTTGGGTTTGCCAC 0.323 NA 12 67 8.00594e-06 2.67723e-05 0.000958276 1 0 TCN1 6947 broad.mit.edu 37 11 59630179 59630179 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:59630179C>A uc001noj.2 - 3 374 c.276G>T c.(274-276)TCG>TCT p.S92S NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 92 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAGCTCTCCCGAGCTTACAT 0.388 NA 21 67 5.45024e-15 2.52167e-14 0.00332997 1 0 PICALM 8301 broad.mit.edu 37 11 85692255 85692255 + Nonsense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:85692255G>A uc001pbm.2 - 17 1982 c.1696C>T c.(1696-1698)CAA>TAA p.Q566* PICALM_uc001pbl.2_Nonsense_Mutation_p.Q516*|PICALM_uc001pbn.2_Nonsense_Mutation_p.Q559*|PICALM_uc010rtl.1_Nonsense_Mutation_p.Q465*|PICALM_uc001pbk.2_RNA|PICALM_uc010rtk.1_Nonsense_Mutation_p.Q143*|PICALM_uc001pbo.1_Nonsense_Mutation_p.Q198* NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 566 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TCACCTGGTTGACTCCAATTT 0.353 NA T MLLT10|MLL TALL|AML| 17 53 0 0 0.00074312 0 0 ENDOD1 23052 broad.mit.edu 37 11 94862474 94862474 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:94862474C>T uc001pfh.2 + 2 1309 c.1234C>T c.(1234-1236)CTC>TTC p.L412F NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 412 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) CATCAGGGCTCTCCTCCGGAT 0.552 NA 12 69 0 0 0.000978159 0 0 EXPH5 23086 broad.mit.edu 37 11 108384345 108384345 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:108384345G>A uc001pkk.2 - 6 2000 c.1889C>T c.(1888-1890)TCC>TTC p.S630F EXPH5_uc010rvy.1_Missense_Mutation_p.S442F|EXPH5_uc010rvz.1_Missense_Mutation_p.S474F|EXPH5_uc010rwa.1_Missense_Mutation_p.S554F NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 630 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTGGGAAAAGGAAGTTTTGAA 0.408 NA 8 115 0 0 0.000442599 0 0 OR10G7 390265 broad.mit.edu 37 11 123909438 123909438 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:123909438T>C uc001pzq.1 - 1 271 c.271A>G c.(271-273)ATC>GTC p.I91V NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGGAAGGAGATAGTCCTGCCG 0.527 NA 21 118 0 0 0.00278032 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839603 128839603 + Silent SNP G G T rs79505038 by1000genomes TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:128839603G>T uc009zcp.2 - 22 5463 c.5463C>A c.(5461-5463)CCC>CCA p.P1821P ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.P780P|ARHGAP32_uc001qez.2_Silent_p.P1472P NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1821 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CCTCTCCCTCGGGACTGATGG 0.577 NA 5 46 0.00116845 0.00343167 0.00116845 1 0 CACNA2D4 93589 broad.mit.edu 37 12 1965194 1965194 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:1965194C>T uc001qjp.2 - 22 2367 c.2136G>A c.(2134-2136)AAG>AAA p.K712K CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.K576K|CACNA2D4_uc009zdr.1_5'Flank NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 712 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGTCTGGGTCCTTCCTGGTGA 0.577 Colon(2;101 179 21030 23310 28141) NA 5 25 0 0 0.000602214 0 0 CACNA1C 775 broad.mit.edu 37 12 2791158 2791158 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:2791158G>T uc009zdu.1 + 45 5944 c.5631G>T c.(5629-5631)AGG>AGT p.R1877S CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Missense_Mutation_p.R1829S|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1565S|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron|CACNA1C_uc010sea.1_Intron|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Intron NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1877 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCTCAGGAGGGATTCAGGCT 0.572 NA 6 47 5.9392e-07 2.12271e-06 0.00116845 1 0 ZNF384 171017 broad.mit.edu 37 12 6776900 6776900 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:6776900C>T uc010sfh.1 - 11 1922 c.1714G>A c.(1714-1716)GAG>AAG p.E572K ZNF384_uc001qpz.2_Missense_Mutation_p.E511K|ZNF384_uc001qqa.2_Missense_Mutation_p.E511K|ZNF384_uc001qqb.2_Missense_Mutation_p.E495K|ZNF384_uc001qqc.2_Missense_Mutation_p.E511K|ZNF384_uc001qqd.2_Missense_Mutation_p.E456K|ZNF384_uc001qqe.2_Missense_Mutation_p.E495K NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 GCCAGGTGCTCCACCTGGATG 0.557 NA T EWSR1|TAF15 ALL 12 109 0 0 0.000978159 0 0 CD163 9332 broad.mit.edu 37 12 7632483 7632483 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:7632483C>T uc001qsz.3 - 16 3581 c.3453G>A c.(3451-3453)AAG>AAA p.K1151K CD163_uc001qta.3_3'UTR|CD163_uc009zfw.2_3'UTR NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1151 Cytoplasmic (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TCCCATTTTCCTTTTCAGTGT 0.403 NA 17 63 0 0 0.000566183 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984305 7984305 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:7984305G>T uc001qtk.2 - 9 1029 c.236C>A c.(235-237)TCT>TAT p.S79Y SLC2A14_uc001qtl.2_Missense_Mutation_p.S56Y|SLC2A14_uc001qtm.2_Missense_Mutation_p.S56Y|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Missense_Mutation_p.S79Y|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.S94Y NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 79 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) CAGCACCTCAGAGGGAGGGGC 0.463 NA OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 53 6.31663e-08 2.36392e-07 0.00316338 1 0 ZNF705A 440077 broad.mit.edu 37 12 8329900 8329900 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:8329900C>A uc001qud.1 + 5 696 c.624C>A c.(622-624)GCC>GCA p.A208A FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 208 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) GTGGAAAAGCCTTCACTCAGT 0.423 NA 27 82 6.70999e-13 2.98197e-12 0.00428921 1 0 PZP 5858 broad.mit.edu 37 12 9353608 9353608 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:9353608C>A uc001qvl.2 - 6 579 c.550G>T c.(550-552)GCT>TCT p.A184S PZP_uc009zgl.2_Missense_Mutation_p.A53S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTGATGCCAGCTTCTAGCTTG 0.478 Melanoma(125;1402 1695 4685 34487 38571) NA 18 87 1.50039e-11 6.49688e-11 0.00188189 1 0 PTPRO 5800 broad.mit.edu 37 12 15669860 15669861 + Missense_Mutation DNP AG AG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:15669860_15669861AG>TT uc001rcv.1 + 9 1923_1924 c.1749_1750AG>TT c.(1747-1752)ATAGCA>ATTTCA p.A584S PTPRO_uc001rcw.1_Missense_Mutation_p.A584S|PTPRO_uc001rcu.1_Missense_Mutation_p.A584S NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 584 Fibronectin type-III 6.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) ACTATGAAATAGCAGCAACTGT 0.416 NA 31 113 0 0 6.4e-05 0 0 SOX5 6660 broad.mit.edu 37 12 23818489 23818489 + Nonsense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:23818489G>A uc001rfw.2 - 7 922 c.820C>T c.(820-822)CAG>TAG p.Q274* SOX5_uc001rfx.2_Nonsense_Mutation_p.Q261*|SOX5_uc001rfy.2_Nonsense_Mutation_p.Q261*|SOX5_uc010siv.1_Nonsense_Mutation_p.Q261*|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Nonsense_Mutation_p.Q226* NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 274 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GGCGGCAGCTGACCTTGAACC 0.483 NA 20 63 0 0 0.00188189 0 0 Unknown 0 broad.mit.edu 37 12 31301909 31301909 + Splice_Site SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:31301909T>A uc010sjy.1 - 10 1045 c.1045_splice c.e10-1 p.L349_splice RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA AAATTTAAGCTGTACAAGAAA 0.303 NA 4 24 0 0 0.00024832 0 0 SYT10 341359 broad.mit.edu 37 12 33579112 33579112 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:33579112C>A uc001rll.1 - 2 767 c.470G>T c.(469-471)CGT>CTT p.R157L SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 157 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCTTTGCACACGTGCATGTTT 0.318 NA 41 175 2.47872e-24 1.2357e-23 0.0025221 1 0 CNTN1 1272 broad.mit.edu 37 12 41316083 41316083 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:41316083G>T uc001rmm.1 + 5 366 c.253G>T c.(253-255)GAT>TAT p.D85Y CNTN1_uc009zjy.1_Missense_Mutation_p.D85Y|CNTN1_uc001rmn.1_Missense_Mutation_p.D74Y|CNTN1_uc001rmo.2_Missense_Mutation_p.D85Y NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 85 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGGGGACGTTGATCTCACAAG 0.393 NA 17 54 7.45023e-12 3.26794e-11 0.00152264 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43777718 43777718 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:43777718A>G uc010skx.1 - 30 4515 c.4515T>C c.(4513-4515)GTT>GTC p.V1505V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1505 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCACCTGACCAACACCTTTCA 0.488 NA 6 38 0 0 0.00116845 0 0 DBX2 440097 broad.mit.edu 37 12 45417504 45417504 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:45417504G>T uc001rok.1 - 3 845 c.673C>A c.(673-675)CTA>ATA p.L225I NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 225 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GATTCCTTTAGTCCCAAGTTG 0.303 NA 43 197 1.91693e-13 8.69051e-13 0.00361006 1 0 KRT6B 3854 broad.mit.edu 37 12 52845722 52845722 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:52845722C>A uc001sak.2 - 1 189 c.141G>T c.(139-141)CTG>CTT p.L47L NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 47 Head. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) ATGCGCCACCCAGGCCACCAC 0.667 NA 8 68 1.08611e-07 3.99818e-07 0.000978159 1 0 OR10A7 121364 broad.mit.edu 37 12 55615378 55615378 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:55615378G>A uc010spf.1 + 1 570 c.570G>A c.(568-570)GTG>GTA p.V190V NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TAGTCACAGTGGATACAACCA 0.448 NA 14 57 0 0 0.00185496 0 0 LGR5 8549 broad.mit.edu 37 12 71898402 71898402 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:71898402G>T uc001swl.2 + 2 269 c.221G>T c.(220-222)AGT>ATT p.S74I LGR5_uc001swm.2_Missense_Mutation_p.S74I|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 74 LRR 1.|Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 AGAGACCTCAGTATGAACAAC 0.493 NA 43 193 2.51966e-14 1.1618e-13 0.00361006 1 0 RPH3A 22895 broad.mit.edu 37 12 113319615 113319615 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:113319615C>A uc010syl.1 + 15 1652 c.1290C>A c.(1288-1290)CCC>CCA p.P430P RPH3A_uc001ttz.2_Silent_p.P430P|RPH3A_uc001tty.2_Silent_p.P426P|RPH3A_uc009zwe.1_Silent_p.P426P|RPH3A_uc010sym.1_Silent_p.P381P|RPH3A_uc001tua.2_Silent_p.P190P NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 430 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGGCTGATCCCTACGTTAAGC 0.607 NA 14 49 1.3612e-06 4.77659e-06 0.00316338 1 0 MED13L 23389 broad.mit.edu 37 12 116413011 116413011 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:116413011C>A uc001tvw.2 - 25 5751 c.5696G>T c.(5695-5697)GGG>GTG p.G1899V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1899 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCCAAGTCGCCCGATTACAAC 0.443 NA 9 62 7.48243e-07 2.65322e-06 0.000442599 1 0 CCDC60 160777 broad.mit.edu 37 12 119937958 119937958 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:119937958C>G uc001txe.2 + 6 1098 c.633C>G c.(631-633)TTC>TTG p.F211L uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 211 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGGAGCATTTCATCACAGCGC 0.468 NA 14 47 0 0 0.00244969 0 0 PITPNM2 57605 broad.mit.edu 37 12 123477210 123477210 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr12:123477210T>A uc001uej.1 - 15 2379 c.2240A>T c.(2239-2241)CAG>CTG p.Q747L PITPNM2_uc001uek.1_Missense_Mutation_p.Q747L NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 747 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CGGCCGCAGCTGGAAAACTGG 0.662 NA 3 14 0 0 6.4e-05 0 0 SACS 26278 broad.mit.edu 37 13 23904603 23904603 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:23904603T>A uc001uon.2 - 10 14001 c.13412A>T c.(13411-13413)GAG>GTG p.E4471V SACS_uc001uoo.2_Missense_Mutation_p.E4324V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4471 HEPN. 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) GCACACCCACTCATTGGCATT 0.443 NA 35 125 0 0 0.000953801 0 0 PARP4 143 broad.mit.edu 37 13 25021220 25021220 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:25021220G>A uc001upl.2 - 26 3325 c.3219C>T c.(3217-3219)GCC>GCT p.A1073A NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1073 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ACGGCACCTGGGCTGGGGCCT 0.512 NA 6 68 0 0 0.00198382 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33110497 33110497 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:33110497T>C uc001uuk.3 - 2 846 c.668A>G c.(667-669)GAT>GGT p.D223G N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Missense_Mutation_p.D223G|N4BP2L2_uc001uum.2_5'Flank NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 223 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATTACTAAGATCTTTCTTTTC 0.353 NA 11 73 0 0 0.00136819 0 0 NBEA 26960 broad.mit.edu 37 13 36228995 36228995 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:36228995A>G uc001uvb.2 + 53 8182 c.7976A>G c.(7975-7977)AAT>AGT p.N2659S NBEA_uc010abi.2_Missense_Mutation_p.N1315S|NBEA_uc010tef.1_Missense_Mutation_p.N452S|NBEA_uc001uvd.2_Missense_Mutation_p.N237S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2659 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTTAGCCAATAATTCAGGT 0.348 NA 4 25 0 0 0.00024832 0 0 EPSTI1 94240 broad.mit.edu 37 13 43474446 43474446 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:43474446C>A uc001uyw.1 - 10 924 c.848G>T c.(847-849)AGG>ATG p.R283M EPSTI1_uc001uyx.1_Missense_Mutation_p.R272M NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 283 ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) CCAGTTTTACCTCCTGTGTTC 0.343 NA 12 43 4.3838e-07 1.58781e-06 0.00185496 1 0 SERPINE3 647174 broad.mit.edu 37 13 51922467 51922467 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:51922467C>T uc001vfh.2 + 4 879 c.819C>T c.(817-819)ATC>ATT p.I273I SERPINE3_uc010tgp.1_Silent_p.I273I NM_001101320 NP_001094790 A8MV23 SERP3_HUMAN nexin-related serine protease inhibitor 273 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 TGAGCCACATCGAGCCACACC 0.622 NA 6 18 0 0 0.00198382 0 0 THSD1 55901 broad.mit.edu 37 13 52951957 52951957 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:52951957A>G uc001vgo.2 - 5 2693 c.2148T>C c.(2146-2148)AGT>AGC p.S716S THSD1_uc001vgp.2_Silent_p.S663S|THSD1_uc010tgz.1_Silent_p.S337S|THSD1_uc010aea.2_Silent_p.S177S NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 716 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CACGGGTTCCACTTGCCTCTT 0.557 NA 9 40 0 0 0.000673444 0 0 PCDH9 5101 broad.mit.edu 37 13 67205364 67205364 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:67205364A>G uc001vik.2 - 4 4010 c.3318T>C c.(3316-3318)GAT>GAC p.D1106D PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.D1072D|PCDH9_uc010thl.1_Silent_p.D1064D NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1106 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) CAGAGTTGCCATCTGCTTCAG 0.478 NA 11 80 0 0 0.00136819 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455447 84455447 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:84455447G>T uc001vlk.2 - 1 1082 c.196C>A c.(196-198)CAT>AAT p.H66N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 66 LRR 1.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAATTGCCATGCAGAAATAAA 0.438 NA 13 65 1.61879e-10 6.70855e-10 0.00136819 1 0 OXGR1 27199 broad.mit.edu 37 13 97639970 97639970 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:97639970G>T uc001vmx.1 - 4 288 c.44C>A c.(43-45)CCC>CAC p.P15H OXGR1_uc010afr.1_Missense_Mutation_p.P15H NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 15 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TGCATAATCGGGGAAATCAGA 0.403 NA 18 88 1.28384e-07 4.71322e-07 0.00188189 1 0 ABHD13 84945 broad.mit.edu 37 13 108881821 108881821 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:108881821A>G uc001vqq.2 + 2 520 c.255A>G c.(253-255)CCA>CCG p.P85P NM_032859 NP_116248 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 85 integral to membrane hydrolase activity p.P85L(1) ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTGGCATTCCACATGAAAACA 0.378 Pancreas(22;506 789 38166 45896 51596) NA 22 133 0 0 0.00332997 0 0 NFKBIA 4792 broad.mit.edu 37 14 35873698 35873698 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:35873698C>T uc001wtf.3 - 1 263 c.153G>A c.(151-153)GAG>GAA p.E51E NFKBIA_uc001wte.3_5'Flank|NFKBIA_uc001wtg.3_Silent_p.E51E|NFKBIA_uc010amo.2_RNA NM_020529 NP_065390 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene 51 Nuclear export signal. MVKELQEI->AAKEAQEA: No nuclear export. anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(2) 2 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) CGAGGCGGATCTCCTGCAGCT 0.677 NA 5 11 0 0 0.00116845 0 0 RGS6 9628 broad.mit.edu 37 14 72939605 72939605 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:72939605G>A uc001xna.3 + 9 1085 c.562G>A c.(562-564)GAA>AAA p.E188K RGS6_uc010ttn.1_Missense_Mutation_p.E188K|RGS6_uc001xmx.3_Missense_Mutation_p.E188K|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.E188K|RGS6_uc010ttp.1_Missense_Mutation_p.E119K|RGS6_uc001xmz.1_Missense_Mutation_p.E49K|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 188 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AGACAAGACAGAAAGGAAAAT 0.398 Ovarian(143;1926 2468 21071 48641) NA 68 154 0 0 0.00361006 0 0 YLPM1 56252 broad.mit.edu 37 14 75264921 75264921 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:75264921C>T uc001xqj.3 + 5 3045 c.2921C>T c.(2920-2922)TCA>TTA p.S974L YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTAGCAACATCATCATTAACA 0.448 NA 22 36 0 0 0.00395357 0 0 TSHR 7253 broad.mit.edu 37 14 81610628 81610628 + Silent SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:81610628T>A uc001xvd.1 + 10 2382 c.2226T>A c.(2224-2226)ATT>ATA p.I742I NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 742 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ATGAACTGATTGAAAACTCCC 0.438 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 38 67 0 0 0.00195071 0 0 EML5 161436 broad.mit.edu 37 14 89091321 89091321 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:89091321C>G uc001xxg.2 - 36 5077 c.4891G>C c.(4891-4893)GAA>CAA p.E1631Q EML5_uc001xxf.2_Missense_Mutation_p.E418Q|EML5_uc001xxh.1_Missense_Mutation_p.E762Q NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1623 WD 24. cytoplasm|microtubule ovary(3) 3 CACGGCCTTTCCTTTCCCCCA 0.453 NA 9 17 0 0 0.00448238 0 0 SLC12A6 9990 broad.mit.edu 37 15 34528271 34528271 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr15:34528271G>A uc001zhw.2 - 23 3336 c.3172C>T c.(3172-3174)CGG>TGG p.R1058W SLC12A6_uc001zhv.2_Missense_Mutation_p.R1007W|SLC12A6_uc001zhx.2_Missense_Mutation_p.R1043W|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R999W|SLC12A6_uc001zib.2_Missense_Mutation_p.R1049W|SLC12A6_uc001zic.2_Missense_Mutation_p.R1058W|SLC12A6_uc010bau.2_Missense_Mutation_p.R1058W|SLC12A6_uc001zid.2_Missense_Mutation_p.R999W|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.R870W NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 1058 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TTTTGTCCCCGGGATGCCATG 0.458 NA 8 83 0 0 0.00307968 0 0 FBN1 2200 broad.mit.edu 37 15 48808532 48808532 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr15:48808532G>A uc001zwx.1 - 11 1503 c.1175C>T c.(1174-1176)CCT>CTT p.P392L NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 392 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AATTACCATAGGAACAGAGCA 0.483 NA 15 34 0 0 0.00316338 0 0 NTRK3 4916 broad.mit.edu 37 15 88476310 88476310 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr15:88476310C>A uc002bme.1 - 15 1984 c.1822G>T c.(1822-1824)GGC>TGC p.G608C NTRK3_uc002bmh.2_Missense_Mutation_p.G600C|NTRK3_uc002bmf.1_Missense_Mutation_p.G608C|NTRK3_uc010upl.1_Missense_Mutation_p.G510C|NTRK3_uc010bnh.1_Missense_Mutation_p.G600C NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 608 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.G608S(2) ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCCCATCGCCGCACACTCCA 0.547 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 10 21 0.000442599 0.0013229 0.000442599 1 0 LINS1 55180 broad.mit.edu 37 15 101109855 101109855 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr15:101109855C>A uc002bwe.2 - 8 2153 c.1862G>T c.(1861-1863)CGG>CTG p.R621L LINS1_uc002bwd.2_Missense_Mutation_p.R208L|LINS1_uc002bwf.2_Missense_Mutation_p.R621L|LINS1_uc002bwg.2_Missense_Mutation_p.R621L|LINS1_uc002bwh.2_Missense_Mutation_p.R621L NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 621 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TTGAGAGGCCCGGGGGGAAGA 0.527 NA 5 64 0.00116845 0.00343167 0.00116845 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1718043 1718043 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:1718043G>C uc010uvh.1 + 17 3183 c.3183G>C c.(3181-3183)GAG>GAC p.E1061D CRAMP1L_uc002cmf.2_RNA NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 1061 nucleus DNA binding 0 CCTCGTCAGAGAGCTCCAGCA 0.617 NA 3 21 0 0 6.4e-05 0 0 ABCC6 368 broad.mit.edu 37 16 16276354 16276354 + Missense_Mutation SNP C C A rs72650701 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:16276354C>A uc002den.3 - 17 2199 c.2162G>T c.(2161-2163)TGG>TTG p.W721L ABCC6_uc010bvo.2_RNA NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 721 ABC transporter 1.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCTCTCCAGCCAGGGTGGGTC 0.592 NA 11 28 0.000673444 0.00199523 0.000673444 1 0 ACSM5 54988 broad.mit.edu 37 16 20441082 20441082 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:20441082A>T uc002dhe.2 + 8 1231 c.1084A>T c.(1084-1086)ACT>TCT p.T362S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 362 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GAAACACCAGACTGGTGTGGA 0.592 NA 4 38 0 0 0.000602214 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482880 20482880 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:20482880G>C uc010bwe.2 + 7 1002 c.763G>C c.(763-765)GAT>CAT p.D255H ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.D176H|ACSM2A_uc002dhf.3_Missense_Mutation_p.D255H|ACSM2A_uc002dhg.3_Missense_Mutation_p.D255H|ACSM2A_uc010vay.1_Missense_Mutation_p.D176H NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 255 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GCAAGCCTCTGATATAATGTG 0.458 NA 22 118 0 0 0.0024448 0 0 DNAH3 55567 broad.mit.edu 37 16 21048036 21048036 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:21048036C>A uc010vbe.1 - 35 5085 c.5085G>T c.(5083-5085)CAG>CAT p.Q1695H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1695 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGGAACCAACCTGGATAATTT 0.383 NA 18 55 2.94398e-08 1.12354e-07 0.000958276 1 0 DNAH3 55567 broad.mit.edu 37 16 21073854 21073854 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:21073854C>A uc010vbe.1 - 25 3669 c.3669G>T c.(3667-3669)TCG>TCT p.S1223S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1223 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTTCTTTTTCCGAGCTGATCA 0.428 NA 24 111 1.85244e-09 7.40428e-09 0.00332997 1 0 CDH16 1014 broad.mit.edu 37 16 66950032 66950032 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:66950032A>T uc002eql.2 - 5 433 c.360T>A c.(358-360)AAT>AAA p.N120K CDH16_uc010cdy.2_Missense_Mutation_p.N120K|CDH16_uc002eqm.2_Missense_Mutation_p.N120K NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 120 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCACCTGGTCATTCTCATCCT 0.577 NA 7 32 0 0 0.00307968 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67320659 67320659 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:67320659T>C uc002eso.3 + 16 5297 c.2762T>C c.(2761-2763)CTC>CCC p.L921P PLEKHG4_uc002esp.3_Missense_Mutation_p.L728P|PLEKHG4_uc002esq.3_Missense_Mutation_p.L921P|PLEKHG4_uc010cef.2_Missense_Mutation_p.L921P|PLEKHG4_uc002ess.3_Missense_Mutation_p.L921P|PLEKHG4_uc010ceg.2_Missense_Mutation_p.L840P NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 921 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CAGGTTAACCTCAAGGAACAG 0.602 NA 4 12 0 0 0.00024832 0 0 SF3B3 23450 broad.mit.edu 37 16 70595659 70595659 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:70595659A>G uc002ezf.2 + 17 2471 c.2260A>G c.(2260-2262)ATT>GTT p.I754V NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 754 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) TCCCGAGGGCATTGTGGCCAT 0.527 NA 16 53 0 0 0.00400662 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401440 77401440 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:77401440C>A uc002ffc.3 - 4 1095 c.676G>T c.(676-678)GGT>TGT p.G226C ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 226 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GGGGAGTAACCAGGATAATTC 0.537 NA 11 30 0.00010058 0.000314545 0.00136819 1 0 GAN 8139 broad.mit.edu 37 16 81388292 81388292 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr16:81388292G>T uc002fgo.2 + 3 713 c.565G>T c.(565-567)GTT>TTT p.V189F NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 189 BACK. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GAAGTTAAACGTTGGCAATGA 0.383 GBM(106;1239 1507 7582 9741 33976) NA 29 75 9.39395e-14 4.30211e-13 0.00106085 1 0 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:7577570C>T uc002gim.2 - 7 905 c.711G>A c.(709-711)ATG>ATA p.M237I TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 237 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 8 34 0 0 0.00448238 0 0 FLCN 201163 broad.mit.edu 37 17 17122418 17122418 + Missense_Mutation SNP G G T rs138031155 byFrequency TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:17122418G>T uc002gra.3 - 9 1481 c.977C>A c.(976-978)CCG>CAG p.P326Q PLD6_uc010cpn.2_Intron NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 326 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 GGACTCTGCCGGGCCCTGGGT 0.627 NA Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 21 79 5.35356e-11 2.25316e-10 0.00278032 1 0 ULK2 9706 broad.mit.edu 37 17 19687150 19687150 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:19687150C>A uc002gwm.3 - 22 2829 c.2320G>T c.(2320-2322)GGC>TGC p.G774C ULK2_uc002gwn.2_Missense_Mutation_p.G774C NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 774 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) AAGCCTGGGCCAGGCGGGGAC 0.642 NA 7 20 2.0095e-06 6.9433e-06 0.00198382 1 0 NOS2 4843 broad.mit.edu 37 17 26086080 26086080 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:26086080G>T uc002gzu.2 - 26 3445 c.3181C>A c.(3181-3183)CGG>AGG p.R1061R NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 1061 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGCTGCTGCCGCAGGATGTCC 0.622 NA 4 12 1.23904e-05 4.04334e-05 0.000602214 1 0 LRRC37B 114659 broad.mit.edu 37 17 30349307 30349307 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:30349307C>G uc002hgu.2 + 1 1153 c.1142C>G c.(1141-1143)TCT>TGT p.S381C LRRC37B_uc010wbx.1_Missense_Mutation_p.S299C|LRRC37B_uc010csu.2_Missense_Mutation_p.S381C NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 381 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GAACCTTCTTCTACAGCCCTG 0.547 NA 24 81 0 0 0.00229938 0 0 KRT23 25984 broad.mit.edu 37 17 39092731 39092731 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:39092731C>G uc002hvm.1 - 2 714 c.125G>C c.(124-126)CGC>CCC p.R42P KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R42P|KRT23_uc002hvn.1_Missense_Mutation_p.R42P NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 42 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) CAGGGAGATGCGGGCTCCCCC 0.706 NA 6 21 0 0 0.00198382 0 0 C17orf57 124989 broad.mit.edu 37 17 45518003 45518003 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:45518003C>A uc002iln.2 + 25 3256 c.2845C>A c.(2845-2847)CAC>AAC p.H949N NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 949 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TATAAAACAACACAAGATTAG 0.313 NA 14 81 0.000219431 0.000672226 0.00244969 1 0 NXPH3 11248 broad.mit.edu 37 17 47656161 47656161 + Silent SNP G G A rs36092288 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:47656161G>A uc002ipa.2 + 2 542 c.258G>A c.(256-258)CCG>CCA p.P86P NXPH3_uc010wlw.1_Silent_p.P86P NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 86 III. neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCAACCGCCCGAACCACAGCC 0.627 NA 4 23 0 0 0.00024832 0 0 CA10 56934 broad.mit.edu 37 17 50008437 50008437 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:50008437T>A uc002itw.3 - 3 1178 c.192A>T c.(190-192)AAA>AAT p.K64N CA10_uc002itv.3_Missense_Mutation_p.K70N|CA10_uc002itx.3_Missense_Mutation_p.K64N|CA10_uc002ity.3_Missense_Mutation_p.K64N|CA10_uc002itz.2_Missense_Mutation_p.K64N NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 64 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GCGACTGCCGTTTCCCCACAG 0.478 NA 18 107 0 0 0.000958276 0 0 ANKFN1 162282 broad.mit.edu 37 17 54543847 54543847 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:54543847A>T uc002iun.1 + 14 1732 c.1697A>T c.(1696-1698)CAG>CTG p.Q566L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 566 large_intestine(1)|ovary(1) 2 AAATGGATGCAGATCTCAAAG 0.398 NA 8 37 0 0 0.00307968 0 0 BZRAP1 9256 broad.mit.edu 37 17 56400700 56400700 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:56400700C>A uc002ivx.3 - 7 1934 c.1063G>T c.(1063-1065)GAG>TAG p.E355* BZRAP1_uc010dcs.2_Nonsense_Mutation_p.E295*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.E355* NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 355 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTTCCTGCTCCAGGCTCTCG 0.607 NA 21 90 6.44725e-10 2.61569e-09 0.00229938 1 0 TMEM49 81671 broad.mit.edu 37 17 57917132 57917132 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:57917132G>C uc002ixu.3 + 12 1354 c.1081G>C c.(1081-1083)GAA>CAA p.E361Q TMEM49_uc010wog.1_Missense_Mutation_p.E169Q|TMEM49_uc010woh.1_Missense_Mutation_p.E305Q|TMEM49_uc010woi.1_Missense_Mutation_p.E264Q|TMEM49_uc010woj.1_Missense_Mutation_p.E227Q|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank NM_030938 NP_112200 Q96GC9 VMP1_HUMAN transmembrane protein 49 361 Cytoplasmic (Potential). autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;1.15e-09)|all cancers(12;1.15e-08) TCTACAGGGAGAAAACTGGTT 0.368 NA 20 299 0 0 0.00229938 0 0 DNAI2 64446 broad.mit.edu 37 17 72278023 72278023 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:72278023C>G uc002jkf.2 + 2 166 c.67C>G c.(67-69)CGC>GGC p.R23G DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 23 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TTTCTCGGACCGCCAGGCCGA 0.617 NA Kartagener_syndrome 11 34 0 0 0.00185496 0 0 FAM38B 63895 broad.mit.edu 37 18 10681738 10681738 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:10681738T>A uc002kor.3 - 9 1371 c.1231A>T c.(1231-1233)ATG>TTG p.M411L FAM38B_uc002koq.2_Missense_Mutation_p.M246L NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2454 integral to membrane ion channel activity ovary(1) 1 TGGGCACTCATTGTGAAAATA 0.378 NA 16 71 0 0 0.00074312 0 0 MC5R 4161 broad.mit.edu 37 18 13826290 13826290 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:13826290G>T uc010xaf.1 + 1 526 c.526G>T c.(526-528)GTC>TTC p.V176F NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 176 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 CTGCGGCATTGTCTTCATCCT 0.557 NA 68 203 1.77791e-30 9.02993e-30 0.00361006 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14787073 14787073 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:14787073G>T uc010dlo.2 + 15 1888 c.1708G>T c.(1708-1710)GAT>TAT p.D570Y ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 570 ovary(1)|skin(1) 2 ACAAAAGGACGATGAAGAAAA 0.289 NA 12 47 4.3838e-07 1.58781e-06 0.00185496 1 0 ZNF521 25925 broad.mit.edu 37 18 22806665 22806665 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:22806665C>A uc002kvk.2 - 4 1464 c.1217G>T c.(1216-1218)AGC>ATC p.S406I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S406I|ZNF521_uc002kvl.2_Missense_Mutation_p.S186I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 406 C2H2-type 9; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTAAATACAGCTGTAGGTAAC 0.463 NA T PAX5 ALL 26 49 3.73988e-18 1.76664e-17 0.00106085 1 0 CDH2 1000 broad.mit.edu 37 18 25570215 25570215 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:25570215C>A uc002kwg.2 - 10 1903 c.1444G>T c.(1444-1446)GCA>TCA p.A482S CDH2_uc010xbn.1_Missense_Mutation_p.A451S NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 482 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GACACGGTTGCAGTTGACTGA 0.448 NA 18 49 1.01871e-10 4.23471e-10 0.00121646 1 0 CDH2 1000 broad.mit.edu 37 18 25583076 25583076 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:25583076C>A uc002kwg.2 - 7 1364 c.905G>T c.(904-906)GGG>GTG p.G302V CDH2_uc010xbn.1_Missense_Mutation_p.G271V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 302 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CCTCAACATCCCATTGAGGGC 0.458 NA 21 41 0.000175454 0.000543667 0.00152264 1 0 DSC2 1824 broad.mit.edu 37 18 28651795 28651795 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:28651795C>G uc002kwl.3 - 13 2355 c.1901G>C c.(1900-1902)CGT>CCT p.R634P DSC2_uc002kwk.3_Missense_Mutation_p.R634P NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 634 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ATAGGAAAGACGTGCTGCTGT 0.323 NA 12 34 0 0 0.00244969 0 0 DSG3 1830 broad.mit.edu 37 18 29039949 29039949 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:29039949C>A uc002kws.2 + 6 768 c.659C>A c.(658-660)ACT>AAT p.T220N NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 220 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAAGTCCGTACTTTGACCAAT 0.438 NA 10 16 1.08611e-07 3.99818e-07 0.000978159 1 0 C18orf34 374864 broad.mit.edu 37 18 30926184 30926184 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:30926184C>G uc002kxn.2 - 8 791 c.649G>C c.(649-651)GTG>CTG p.V217L C18orf34_uc010xbr.1_Missense_Mutation_p.V217L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.V217L|C18orf34_uc002kxp.2_Missense_Mutation_p.V217L NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 217 ovary(1) 1 CCTTTCTGCACAGCCAATGGG 0.323 NA 24 56 0 0 0.00127121 0 0 ACAA2 10449 broad.mit.edu 37 18 47329179 47329179 + Nonsense_Mutation SNP C C A rs147007453 by1000genomes TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:47329179C>A uc002ldw.3 - 2 458 c.61G>T c.(61-63)GGA>TGA p.G21* ACAA2_uc002ldx.3_Nonsense_Mutation_p.G18* NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 21 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 AGAAGGCCTCCGTAAGCTCCA 0.453 NA 21 50 7.41877e-09 2.89675e-08 0.00188189 1 0 SERPINB4 6318 broad.mit.edu 37 18 61328320 61328320 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:61328320C>A uc002ljg.2 - 1 157 c.131G>T c.(130-132)GGA>GTA p.G44V SERPINB3_uc002lji.2_Missense_Mutation_p.G44V|SERPINB3_uc010dqa.2_Missense_Mutation_p.G44V|SERPINB3_uc010dqb.2_Missense_Mutation_p.G44V|SERPINB3_uc010dqc.2_Missense_Mutation_p.G44V P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 44 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 GTCTTTGGCTCCTAAGAGGAC 0.438 NA 28 97 5.60225e-13 2.5145e-12 0.00178596 1 0 SERPINB10 5273 broad.mit.edu 37 18 61602259 61602259 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:61602259C>A uc010xev.1 + 8 1067 c.977C>A c.(976-978)TCT>TAT p.S326Y SERPINB10_uc010xew.1_Missense_Mutation_p.S326Y NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 326 cytoplasm|nucleus serine-type endopeptidase inhibitor activity lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) TCAGGAATGTCTTCAGCAAGA 0.428 NA 16 32 6.31663e-08 2.36392e-07 0.00316338 1 0 PQLC1 80148 broad.mit.edu 37 18 77703343 77703343 + Missense_Mutation SNP C C A rs139297349 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr18:77703343C>A uc002lnl.2 - 3 495 c.323G>T c.(322-324)CGC>CTC p.R108L PQLC1_uc010dre.2_Missense_Mutation_p.R25L|PQLC1_uc002lnk.2_Missense_Mutation_p.R108L|PQLC1_uc010xfm.1_Missense_Mutation_p.R108L NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 108 integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) AAAGGAGCGGCGCCTGGCGTT 0.587 NA 28 114 2.47511e-08 9.55391e-08 0.001512 1 0 ABCA7 10347 broad.mit.edu 37 19 1053825 1053825 + Silent SNP A A C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:1053825A>C uc002lqw.3 + 25 3693 c.3462A>C c.(3460-3462)ACA>ACC p.T1154T ABCA7_uc010dsb.1_Silent_p.T1016T NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1154 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGGACACAGATATGGAGG 0.627 NA 8 49 0 0 0.000442599 0 0 PCSK4 54760 broad.mit.edu 37 19 1488005 1488005 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:1488005G>T uc002ltb.1 - 4 536 c.474C>A c.(472-474)GAC>GAA p.D158E PCSK4_uc002lta.2_5'UTR NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 158 Catalytic (By similarity). Charge relay system (By similarity). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGATGCCATCGTCCAGCACAG 0.682 NA 15 62 4.14922e-12 1.83189e-11 0.00400662 1 0 ITGB1BP3 27231 broad.mit.edu 37 19 3941117 3941117 + Missense_Mutation SNP C C A rs142587749 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:3941117C>A uc002lyz.3 + 7 734 c.444C>A c.(442-444)CAC>CAA p.H148Q ITGB1BP3_uc010xia.1_Missense_Mutation_p.H153Q NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN integrin beta 1 binding protein 3 148 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) TCGATGGCCACGTGTGGCCCA 0.612 NA 5 36 2.0095e-06 6.9433e-06 0.00198382 1 0 MAP2K2 5605 broad.mit.edu 37 19 4110509 4110509 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:4110509T>A uc002lzk.2 - 3 702 c.448A>T c.(448-450)ATG>TTG p.M150L NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 150 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCACTCACCATGTGTTCCATG 0.627 NA Cardiofaciocutaneous_syndrome 6 44 0 0 0.00198382 0 0 MUC16 94025 broad.mit.edu 37 19 9028337 9028337 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:9028337G>T uc002mkp.2 - 11 36659 c.36455C>A c.(36454-36456)CCT>CAT p.P12152H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12154 SEA 1.|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 GAGGTCTTCAGGGTCAGGGCG 0.572 NA 23 81 4.16121e-05 0.000133534 0.00278032 1 0 MUC16 94025 broad.mit.edu 37 19 9090346 9090346 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:9090346G>T uc002mkp.2 - 1 1673 c.1469C>A c.(1468-1470)TCT>TAT p.S490Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 490 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 CTGCCTCCCAGAGGTGCTGCC 0.537 NA 15 54 2.32078e-09 9.19466e-09 0.00316338 1 0 OR7G2 390882 broad.mit.edu 37 19 9213468 9213468 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:9213468G>A uc010xkk.1 - 1 515 c.515C>T c.(514-516)ACT>ATT p.T172I NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CACAACACTAGTCAACAGAGA 0.522 Esophageal Squamous(67;143 1448 28637 40648) NA 7 46 0 0 0.00448238 0 0 ZNF699 374879 broad.mit.edu 37 19 9407478 9407478 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:9407478C>A uc002mlc.1 - 5 602 c.602G>T c.(601-603)GGA>GTA p.G201V NM_198535 NP_940937 Q32M78 ZN699_HUMAN zinc finger protein 699 201 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGGCCTTTCCACACTCATG 0.418 NA 24 99 8.24728e-16 3.8421e-15 0.00465635 1 0 DNASE2 1777 broad.mit.edu 37 19 12989306 12989306 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:12989306A>T uc002mvn.1 - 5 745 c.599T>A c.(598-600)GTG>GAG p.V200E DNASE2_uc010xmr.1_Missense_Mutation_p.V145E NM_001375 NP_001366 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal precursor 200 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding 0 GCCCTTGACCACATTCTCCAA 0.552 NA Direct_reversal_of_damage 8 26 0 0 0.00307968 0 0 SLC5A5 6528 broad.mit.edu 37 19 17986910 17986910 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:17986910C>A uc002nhr.3 + 5 1040 c.693C>A c.(691-693)CTC>CTA p.L231L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 231 Extracellular (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 GGATCAACCTCATGGAGTGAG 0.468 Melanoma(65;1008 1708 7910 46650) NA 13 35 5.50884e-06 1.84676e-05 0.00136819 1 0 NCAN 1463 broad.mit.edu 37 19 19345853 19345853 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:19345853T>A uc002nlz.2 + 10 3297 c.3198T>A c.(3196-3198)AAT>AAA p.N1066K NCAN_uc010ecc.1_Missense_Mutation_p.N630K NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1066 EGF-like 2; calcium-binding (Potential). axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ATGAGGTCAATGGCTTTGTCT 0.517 NA 5 45 0 0 0.000602214 0 0 ZNF681 148213 broad.mit.edu 37 19 23927743 23927743 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:23927743A>G uc002nrk.3 - 4 751 c.609T>C c.(607-609)TGT>TGC p.C203C ZNF681_uc002nrl.3_Silent_p.C134C|ZNF681_uc002nrj.3_Silent_p.C134C NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 203 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGGCTTTTCCACAGTCTTCAC 0.294 NA 7 18 0 0 0.00448238 0 0 ZNF536 9745 broad.mit.edu 37 19 30934603 30934603 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:30934603A>T uc002nsu.1 + 2 272 c.134A>T c.(133-135)CAT>CTT p.H45L ZNF536_uc010edd.1_Missense_Mutation_p.H45L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGCTCAGCCATGCCTTCCCC 0.682 NA 9 58 0 0 0.000442599 0 0 ZNF536 9745 broad.mit.edu 37 19 31039599 31039599 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:31039599C>A uc002nsu.1 + 4 3211 c.3073C>A c.(3073-3075)CTG>ATG p.L1025M ZNF536_uc010edd.1_Missense_Mutation_p.L1025M NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1025 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGCCAACCACCTGGGCAAAGC 0.557 NA 7 49 1.12685e-05 3.70408e-05 0.00448238 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770099 31770099 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:31770099G>T uc002nsy.3 - 2 665 c.600C>A c.(598-600)AGC>AGA p.S200R NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 200 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AGAGCTTGCTGCTCTGCCGGT 0.627 NA 9 34 1.08611e-07 3.99818e-07 0.000978159 1 0 ZFP30 22835 broad.mit.edu 37 19 38126323 38126323 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:38126323C>A uc002ogv.1 - 6 1635 c.1119G>T c.(1117-1119)CAG>CAT p.Q373H ZFP30_uc002ogw.1_Missense_Mutation_p.Q373H|ZFP30_uc002ogx.1_Missense_Mutation_p.Q373H|ZFP30_uc010xtt.1_Missense_Mutation_p.Q372H NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTATTCTCTGATGGAGAG 0.403 NA 21 66 5.26018e-13 2.36883e-12 0.00188189 1 0 MAP4K1 11184 broad.mit.edu 37 19 39103262 39103262 + Silent SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:39103262C>G uc002oix.1 - 9 762 c.654G>C c.(652-654)GTG>GTC p.V218V MAP4K1_uc002oiy.1_Silent_p.V218V|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 218 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGAGAGGGTGCACATCAAAGA 0.622 NA 6 24 0 0 0.00116845 0 0 PSG7 5676 broad.mit.edu 37 19 43430685 43430685 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:43430685G>T uc002ovl.3 - 5 995 c.893C>A c.(892-894)CCC>CAC p.P298H PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P176H NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 298 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) CGTGACACTGGGTAGAATGAG 0.502 NA 41 188 1.41504e-22 6.95168e-22 0.00285205 1 0 PSG4 5672 broad.mit.edu 37 19 43708326 43708326 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:43708326C>A uc002ovy.2 - 2 244 c.142G>T c.(142-144)GGG>TGG p.G48W PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.G48W|PSG4_uc002ovz.2_Missense_Mutation_p.G48W NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 48 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) ACATCCTTCCCCTCAGAAACT 0.463 NA 32 178 1.71298e-08 6.6501e-08 0.00375469 1 0 TEX101 83639 broad.mit.edu 37 19 43920616 43920616 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:43920616G>C uc010xwo.1 + 4 495 c.300G>C c.(298-300)CTG>CTC p.L100L TEX101_uc002owk.2_Silent_p.L118L NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 100 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) CTCCCGGCCTGATCGTGACCT 0.527 NA 28 143 0 0 0.00178596 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935674 47935674 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:47935674G>C uc002pgx.2 - 9 2417 c.2139C>G c.(2137-2139)TCC>TCG p.S713S SLC8A2_uc010xyq.1_Silent_p.S469S|SLC8A2_uc010xyr.1_Silent_p.S176S|SLC8A2_uc010ele.2_Silent_p.S713S NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 713 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GCTCCTCCCGGGACCCGTCCT 0.622 NA 6 35 0 0 0.00198382 0 0 KLK2 3817 broad.mit.edu 37 19 51381809 51381809 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:51381809C>A uc002ptv.2 + 5 821 c.780C>A c.(778-780)AAC>AAA p.N260K KLK2_uc002ptu.2_3'UTR|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.N243K|KLK2_uc010ycm.1_Missense_Mutation_p.N158K|KLK2_uc010eoh.2_Missense_Mutation_p.N158K NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 260 proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) TCGCAGCCAACCCCTGAGTGC 0.557 NA T ETV4 prostate 17 71 1.33834e-09 5.38123e-09 0.000958276 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51955805 51955805 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:51955805C>A uc002pwt.2 - 7 1395 c.1328G>T c.(1327-1329)GGA>GTA p.G443V SIGLEC8_uc010yda.1_Missense_Mutation_p.G334V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.G350V NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 443 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATGGAGCTCTCCTTCCTCCCC 0.567 NA 12 33 5.50884e-06 1.84676e-05 0.00136819 1 0 ZNF534 147658 broad.mit.edu 37 19 52937229 52937229 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:52937229G>A uc002pzk.2 + 2 98 c.37G>A c.(37-39)GTG>ATG p.V13M ZNF534_uc002pzj.1_Missense_Mutation_p.V13M|ZNF534_uc010epo.1_Missense_Mutation_p.V13M|ZNF534_uc002pzl.2_Missense_Mutation_p.V13M NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTCAGCGATGTGGCCATAGA 0.443 NA 14 59 0 0 0.00244969 0 0 BIRC8 112401 broad.mit.edu 37 19 53793483 53793483 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:53793483A>T uc002qbk.2 - 1 1393 c.145T>A c.(145-147)TGG>AGG p.W49R NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 49 BIR. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) TTGGGCTTCCAGTTGGCTAGC 0.433 NA 11 45 0 0 0.000978159 0 0 NLRP12 91662 broad.mit.edu 37 19 54313761 54313761 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:54313761C>A uc002qch.3 - 3 1372 c.1152G>T c.(1150-1152)GCG>GCT p.A384A NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A384A|NLRP12_uc002qcj.3_Silent_p.A384A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A384A NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 384 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGACTTGGCCCGCCTGCTCTG 0.562 NA 34 139 5.66738e-07 2.04177e-06 0.00128727 1 0 USP29 57663 broad.mit.edu 37 19 57640279 57640279 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:57640279A>T uc002qny.2 + 4 592 c.236A>T c.(235-237)AAC>ATC p.N79I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 79 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) TTGAAAAACAACGTGTTCTTG 0.333 NA 10 43 0 0 0.000442599 0 0 ZNF264 9422 broad.mit.edu 37 19 57724116 57724116 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:57724116A>T uc002qob.2 + 4 2064 c.1651A>T c.(1651-1653)AGC>TGC p.S551C NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 551 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 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;0.0135) CTTCAGTCGCAGCTCGTCCCT 0.458 NA 20 59 0 0 0.000958276 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187796 58187796 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:58187796G>C uc002qpu.2 + 3 980 c.283G>C c.(283-285)GGT>CGT p.G95R NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 95 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTATGATTGGTGGCCACTG 0.398 NA 15 79 0 0 0.000566183 0 0 ZNF135 7694 broad.mit.edu 37 19 58578565 58578566 + Missense_Mutation DNP GA GA AG TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:58578565_58578566GA>AG uc010yhq.1 + 5 845_846 c.749_750GA>AG c.(748-750)GGA>GAG p.G250E ZNF135_uc002qre.2_Missense_Mutation_p.G238E|ZNF135_uc002qrd.1_Missense_Mutation_p.G196E|ZNF135_uc002qrf.2_Missense_Mutation_p.G196E|ZNF135_uc002qrg.2_Missense_Mutation_p.G208E|ZNF135_uc010yhr.1_Missense_Mutation_p.G59E NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 250 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) ACGCACACAGGAGAGAGACCTT 0.47 NA 19 115 0 0 6.4e-05 0 0 NOL10 79954 broad.mit.edu 37 2 10712241 10712241 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:10712241C>A uc002raq.2 - 21 2148 c.2023G>T c.(2023-2025)GGA>TGA p.G675* NOL10_uc010yje.1_Nonsense_Mutation_p.G649*|NOL10_uc010yjf.1_Nonsense_Mutation_p.G625*|NOL10_uc002rap.2_Nonsense_Mutation_p.G625* NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 675 nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TTCAGGTGTCCGGCCGAACGA 0.478 NA 46 166 6.23363e-37 3.19001e-36 0.00361006 1 0 DDX1 1653 broad.mit.edu 37 2 15760365 15760365 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:15760365G>T uc002rce.2 + 17 1528 c.1240G>T c.(1240-1242)GAT>TAT p.D414Y DDX1_uc010yjq.1_Missense_Mutation_p.D322Y NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 414 Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GCATTCTTTCGATGTAAAGAA 0.363 NA 24 93 3.73808e-20 1.79721e-19 0.000878237 1 0 NT5C1B 93034 broad.mit.edu 37 2 18765484 18765484 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:18765484G>C uc002rcz.2 - 6 1045 c.941C>G c.(940-942)TCC>TGC p.S314C NT5C1B_uc002rcy.2_Missense_Mutation_p.S314C|NT5C1B_uc010exr.2_Missense_Mutation_p.S256C|NT5C1B_uc010yju.1_Missense_Mutation_p.S254C|NT5C1B_uc002rda.2_Missense_Mutation_p.S254C|NT5C1B_uc010yjv.1_Missense_Mutation_p.S331C|NT5C1B_uc010yjw.1_Missense_Mutation_p.S297C|NT5C1B_uc010exs.2_Missense_Mutation_p.S316C|NT5C1B_uc002rdb.1_Missense_Mutation_p.S106C NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 314 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GAGCGCGCAGGATGAGAGAGC 0.537 NA 21 84 0 0 0.00278032 0 0 APOB 338 broad.mit.edu 37 2 21225982 21225982 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:21225982C>T uc002red.2 - 29 12440 c.12312G>A c.(12310-12312)CTG>CTA p.L4104L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4104 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) GATTTCTTCTCAGCTTTGAAG 0.488 NA 27 120 0 0 0.001512 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858128 54858128 + Nonsense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:54858128C>T uc002rxu.2 + 16 3193 c.2944C>T c.(2944-2946)CAG>TAG p.Q982* SPTBN1_uc002rxx.2_Nonsense_Mutation_p.Q969* NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 982 Spectrin 7. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CGAGTCCACCCAGGACCTGGG 0.587 NA 6 23 0 0 0.00116845 0 0 C2orf86 51057 broad.mit.edu 37 2 63631262 63631262 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:63631262C>G uc002sch.2 - 10 1802 c.1356G>C c.(1354-1356)AAG>AAC p.K452N C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.K293N|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.K260N|C2orf86_uc002sci.1_Missense_Mutation_p.K428N|C2orf86_uc010fcr.1_Missense_Mutation_p.K342N NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 452 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TACCTTCACCCTTCTGAGAAA 0.433 NA 15 72 0 0 0.00400662 0 0 C2orf78 388960 broad.mit.edu 37 2 74042529 74042529 + Silent SNP C C A rs143445466 by1000genomes TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:74042529C>A uc002sjr.1 + 3 1300 c.1179C>A c.(1177-1179)CCC>CCA p.P393P NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 393 ovary(2) 2 TAGAAATCCCCGATATTCACC 0.448 NA 8 17 1.12685e-05 3.70408e-05 0.00448238 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745779 77745779 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:77745779G>T uc002snr.2 - 3 1631 c.1216C>A c.(1216-1218)CCA>ACA p.P406T LRRTM4_uc002snq.2_Missense_Mutation_p.P406T|LRRTM4_uc002sns.2_Missense_Mutation_p.P406T|LRRTM4_uc002snt.2_Missense_Mutation_p.P407T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 406 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGAAACCCTGGGGAAGGGCTT 0.498 NA 9 39 7.48243e-07 2.65322e-06 0.000442599 1 0 REG1A 5967 broad.mit.edu 37 2 79348783 79348783 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:79348783C>A uc002snz.2 + 3 263 c.160C>A c.(160-162)CGT>AGT p.R54S REG1A_uc010ffx.1_Missense_Mutation_p.R54S|REG1A_uc010ysd.1_Missense_Mutation_p.R54S NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 54 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TAATGAAGACCGTGAGACCTG 0.567 NA 22 101 1.96292e-10 8.08509e-10 0.00152264 1 0 REG1A 5967 broad.mit.edu 37 2 79350017 79350017 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:79350017G>T uc002snz.2 + 5 475 c.372G>T c.(370-372)TGG>TGT p.W124C REG1A_uc010ysd.1_Missense_Mutation_p.W124C NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 124 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 ACAAGTCCTGGGGCATTGGAG 0.552 NA 17 66 2.27731e-05 7.41359e-05 0.00188189 1 0 REG1A 5967 broad.mit.edu 37 2 79350037 79350037 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:79350037G>A uc002snz.2 + 5 495 c.392G>A c.(391-393)AGT>AAT p.S131N REG1A_uc010ysd.1_Missense_Mutation_p.S131N NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 131 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GCCCCAAGCAGTGTTAATCCT 0.577 NA 12 61 0 0 0.000978159 0 0 SNRNP200 23020 broad.mit.edu 37 2 96952157 96952157 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:96952157T>C uc002svu.2 - 29 3981 c.3895A>G c.(3895-3897)ACC>GCC p.T1299A SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.T371A NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1299 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 AAAAGTTCGGTTGGAGGGGGG 0.507 NA 13 53 0 0 0.00185496 0 0 PDCL3 79031 broad.mit.edu 37 2 101192814 101192814 + Splice_Site SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:101192814A>G uc002tao.2 + 6 690 c.578_splice c.e6-2 p.E193_splice NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 TTTACCATATAGAGTTGGAAT 0.433 NA 14 69 0 0 0.00316338 0 0 RGPD3 653489 broad.mit.edu 37 2 107040375 107040375 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:107040375C>T uc010ywi.1 - 20 4105 c.4048G>A c.(4048-4050)GGT>AGT p.G1350S NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1350 RanBD1 2. intracellular transport binding ovary(1) 1 TTTTCCTCACCACTGGATACT 0.383 NA 22 261 0 0 0.00106085 0 0 INSIG2 51141 broad.mit.edu 37 2 118864760 118864760 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:118864760G>A uc002tlk.2 + 5 837 c.631G>A c.(631-633)GCA>ACA p.A211T INSIG2_uc010yye.1_Missense_Mutation_p.A103T|INSIG2_uc002tll.2_Intron NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 211 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 TCGACAACTGGCAATGGTAAG 0.378 NA 8 106 0 0 0.00307968 0 0 POTEF 728378 broad.mit.edu 37 2 130832747 130832747 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:130832747G>T uc010fmh.2 - 17 2698 c.2298C>A c.(2296-2298)ACC>ACA p.T766T NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 766 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GGTACTTCAGGGTCAGGATGC 0.592 NA 15 60 1.99824e-07 7.31603e-07 0.000566183 1 0 LRP1B 53353 broad.mit.edu 37 2 141200182 141200182 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:141200182G>T uc002tvj.1 - 66 11277 c.10305C>A c.(10303-10305)AGC>AGA p.S3435R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3435 Extracellular (Potential).|LDL-receptor class A 24. 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) CTGGAGAACAGCTGTTTTCAG 0.378 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 22 72 4.26978e-12 1.87898e-11 0.00332997 1 0 CYTIP 9595 broad.mit.edu 37 2 158300414 158300414 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:158300414C>A uc002tzj.1 - 1 191 c.119G>T c.(118-120)AGA>ATA p.R40I CYTIP_uc010zcl.1_Intron NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 40 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 TTGAATCCTTCTATTATCGTC 0.502 NA 9 86 2.74318e-10 1.12645e-09 0.000442599 1 0 ACVR1C 130399 broad.mit.edu 37 2 158401076 158401076 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:158401076T>C uc002tzk.3 - 5 1067 c.824A>G c.(823-825)CAG>CGG p.Q275R ACVR1C_uc002tzl.3_Missense_Mutation_p.Q195R|ACVR1C_uc010fof.2_Missense_Mutation_p.Q118R|ACVR1C_uc010foe.2_Missense_Mutation_p.Q225R NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 275 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 TAAGGAGCCCTGTTCATGATA 0.383 NA 13 69 0 0 0.00136819 0 0 GCA 25801 broad.mit.edu 37 2 163215621 163215621 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:163215621C>G uc002ucg.2 + 6 698 c.522C>G c.(520-522)TTC>TTG p.F174L GCA_uc010zcu.1_Missense_Mutation_p.F155L NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 174 EF-hand 4. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 GCAGAATTTTCTTTGATGATT 0.308 NA 14 160 0 0 0.000566183 0 0 KCNH7 90134 broad.mit.edu 37 2 163693067 163693067 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:163693067A>T uc002uch.1 - 2 499 c.287T>A c.(286-288)GTC>GAC p.V96D KCNH7_uc002uci.2_Missense_Mutation_p.V96D NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 96 Cytoplasmic (Potential).|PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) ATAGTAGGTGACCTCCACTTT 0.418 GBM(196;1492 2208 17507 24132 45496) NA 6 34 0 0 0.00198382 0 0 SCN3A 6328 broad.mit.edu 37 2 165947492 165947492 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:165947492G>T uc002ucx.2 - 28 5663 c.5171C>A c.(5170-5172)CCC>CAC p.P1724H SCN3A_uc010zcy.1_Missense_Mutation_p.P207H|SCN3A_uc002ucy.2_Missense_Mutation_p.P1675H|SCN3A_uc002ucz.2_Missense_Mutation_p.P1675H NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1724 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GTCACAGTCGGGTGGTGCACT 0.458 NA 25 115 4.87955e-14 2.24227e-13 0.000878237 1 0 SCN2A 6326 broad.mit.edu 37 2 166179956 166179956 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:166179956C>A uc002udc.2 + 12 2252 c.1962C>A c.(1960-1962)GTC>GTA p.V654V SCN2A_uc002udd.2_Silent_p.V654V|SCN2A_uc002ude.2_Silent_p.V654V NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 654 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATGGTGTGGTCTCCCTGGTCG 0.582 NA 4 11 0.000602214 0.00178811 0.000602214 1 0 SCN7A 6332 broad.mit.edu 37 2 167262212 167262212 + Nonsense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:167262212G>A uc002udu.1 - 25 5054 c.4927C>T c.(4927-4929)CGA>TGA p.R1643* NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1643 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TTGTCATTTCGCCTCAAGCGG 0.368 NA 16 166 0 0 0.000566183 0 0 XIRP2 129446 broad.mit.edu 37 2 168099116 168099116 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:168099116C>T uc002udx.2 + 8 1232 c.1214C>T c.(1213-1215)TCA>TTA p.S405L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S230L|XIRP2_uc010fpq.2_Missense_Mutation_p.S183L|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 230 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAGCCATCATCAGTTGTGAGT 0.428 NA 24 95 0 0 0.00395357 0 0 HOXD11 3237 broad.mit.edu 37 2 176973687 176973688 + Missense_Mutation DNP CC CC AA TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:176973687_176973688CC>AA uc002uki.2 + 2 834_835 c.834_835CC>AA c.(832-837)ATCCGC>ATAAGC p.R279S HOXD11_uc010fqx.2_RNA NM_021192 NP_067015 P31277 HXD11_HUMAN homeobox D11 279 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) AGTACCAGATCCGCGAACTGGA 0.525 NA T NUP98 AML 10 65 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179416521 179416521 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:179416521A>T uc010zfg.1 - 284 83626 c.83402T>A c.(83401-83403)ATC>AAC p.I27801N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21496N|TTN_uc010zfi.1_Missense_Mutation_p.I21429N|TTN_uc010zfj.1_Missense_Mutation_p.I21304N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28728 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) TTGCCAGAGGATGCTATTTCT 0.408 NA 13 127 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179430521 179430521 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:179430521G>A uc010zfg.1 - 275 72858 c.72634C>T c.(72634-72636)CCT>TCT p.P24212S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P17907S|TTN_uc010zfi.1_Missense_Mutation_p.P17840S|TTN_uc010zfj.1_Missense_Mutation_p.P17715S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25139 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) GGGGAAGGAGGTTCAGCAGCT 0.478 NA 36 131 0 0 0.00148497 0 0 TTN 7273 broad.mit.edu 37 2 179451991 179451991 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:179451991A>G uc010zfg.1 - 256 56467 c.56243T>C c.(56242-56244)GTT>GCT p.V18748A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12443A|TTN_uc010zfi.1_Missense_Mutation_p.V12376A|TTN_uc010zfj.1_Missense_Mutation_p.V12251A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19675 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) TTCTGGGGTAACGGTCGACCA 0.493 NA 14 44 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179546109 179546109 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:179546109G>T uc010zfg.1 - 134 29733 c.29509C>A c.(29509-29511)CCC>ACC p.P9837T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6498T|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10764 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) GTACCTTTGGGTGGTGGAGGT 0.363 NA 9 35 1.12685e-05 3.70408e-05 0.00448238 1 0 TTN 7273 broad.mit.edu 37 2 179644746 179644746 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:179644746C>A uc010zfg.1 - 22 3934 c.3710G>T c.(3709-3711)AGA>ATA p.R1237I TTN_uc010zfh.1_Missense_Mutation_p.R1191I|TTN_uc010zfi.1_Missense_Mutation_p.R1191I|TTN_uc010zfj.1_Missense_Mutation_p.R1191I|TTN_uc002unb.2_Missense_Mutation_p.R1237I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1237 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) TACATAAGTTCTGACCACTAC 0.269 NA 15 75 3.45872e-05 0.000112056 0.00400662 1 0 ZNF804A 91752 broad.mit.edu 37 2 185800553 185800553 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:185800553G>C uc002uph.2 + 4 1024 c.430G>C c.(430-432)GTG>CTG p.V144L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 144 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AACTGTTACTGTGAGAGAAAA 0.353 NA 19 76 0 0 0.00278032 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801970 185801970 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:185801970C>G uc002uph.2 + 4 2441 c.1847C>G c.(1846-1848)ACT>AGT p.T616S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 616 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAATCAGAAACTCGCTGCAAA 0.343 NA 31 129 0 0 0.00283554 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801983 185801983 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:185801983G>T uc002uph.2 + 4 2454 c.1860G>T c.(1858-1860)ATG>ATT p.M620I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 620 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GCTGCAAAATGGAAGCAGAGA 0.338 NA 41 134 1.00776e-21 4.91508e-21 0.00361006 1 0 Unknown 0 broad.mit.edu 37 2 190788122 190788122 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:190788122G>T uc002uro.2 + 1 204 c.61G>T c.(61-63)GGG>TGG p.G21W SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C; NA TGTATTCATTGGGAATCTCAA 0.443 NA 22 81 7.92952e-12 3.46692e-11 0.00395357 1 0 UNC80 285175 broad.mit.edu 37 2 210650811 210650811 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:210650811C>A uc010zjc.1 + 5 702 c.622C>A c.(622-624)CTG>ATG p.L208M UNC80_uc002vdj.1_Missense_Mutation_p.L208M NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 208 integral to membrane 0 CACCTTCCGTCTGGCCAGTGG 0.498 NA 19 79 8.34094e-07 2.93453e-06 0.00121646 1 0 ERBB4 2066 broad.mit.edu 37 2 212530153 212530153 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:212530153C>A uc002veg.1 - 15 1864 c.1766G>T c.(1765-1767)TGT>TTT p.C589F ERBB4_uc002veh.1_Missense_Mutation_p.C589F|ERBB4_uc010zji.1_Missense_Mutation_p.C589F|ERBB4_uc010zjj.1_Missense_Mutation_p.C589F|ERBB4_uc010fut.1_Missense_Mutation_p.C589F NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 589 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTTTTCCACACAGTTTGGGCC 0.428 NA TSP Lung(8;0.080) 5 49 0.00198382 0.00580117 0.00198382 1 0 ABCA12 26154 broad.mit.edu 37 2 215884272 215884272 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:215884272A>T uc002vew.2 - 12 1756 c.1536T>A c.(1534-1536)AAT>AAA p.N512K ABCA12_uc002vev.2_Missense_Mutation_p.N194K|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 512 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) ACTGATCCATATTTAAATTAA 0.343 Ovarian(66;664 1488 5121 34295) NA 18 75 0 0 0.00152264 0 0 COL4A4 1286 broad.mit.edu 37 2 227876937 227876937 + Silent SNP A A C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:227876937A>C uc010zlt.1 - 44 4947 c.4293T>G c.(4291-4293)CGT>CGG p.R1431R NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1431 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGTCACCTTTACGTCCGGGAG 0.537 NA 3 19 0 0 0.00024832 0 0 SP100 6672 broad.mit.edu 37 2 231371124 231371124 + Silent SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:231371124A>T uc002vqt.2 + 22 2118 c.1977A>T c.(1975-1977)ATA>ATT p.I659I SP100_uc002vqs.2_Silent_p.I659I|SP100_uc002vqu.1_Silent_p.I659I|SP100_uc010fxp.1_5'UTR NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 659 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGCTAAGTATACGCTGCGGTG 0.448 NA 8 39 0 0 0.00307968 0 0 FAM113A 64773 broad.mit.edu 37 20 2819111 2819111 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr20:2819111G>A uc002wgz.1 - 6 1105 c.608C>T c.(607-609)GCA>GTA p.A203V FAM113A_uc002whb.1_Missense_Mutation_p.A54V|FAM113A_uc002wha.1_Missense_Mutation_p.A54V|FAM113A_uc010zqa.1_Missense_Mutation_p.A50V|FAM113A_uc002whc.1_Missense_Mutation_p.A152V|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 203 hydrolase activity|protein binding ovary(2) 2 CAGGGAGCCTGCCAGGGGCTG 0.572 NA 5 33 0 0 0.00198382 0 0 ASXL1 171023 broad.mit.edu 37 20 31024829 31024829 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr20:31024829G>T uc002wxs.2 + 12 4740 c.4314G>T c.(4312-4314)CAG>CAT p.Q1438H ASXL1_uc010geb.2_Missense_Mutation_p.Q1329H NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1438 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GCATCAAGCAGGCATTTTATG 0.517 NA F|N|Mis MDS|CMML 10 68 1.08611e-07 3.99818e-07 0.000978159 1 0 PREX1 57580 broad.mit.edu 37 20 47268019 47268019 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr20:47268019T>C uc002xtw.1 - 22 2593 c.2570A>G c.(2569-2571)TAT>TGT p.Y857C PREX1_uc002xtv.1_Missense_Mutation_p.Y154C NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 857 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CACATACTCATACACCACGCC 0.622 NA 5 37 0 0 0.000602214 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812810 31812810 + Nonsense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr21:31812810C>G uc002yod.2 + 1 165 c.165C>G c.(163-165)TAC>TAG p.Y55* NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 55 intermediate filament 0 AGGAGACCTACTGTGAGCCCA 0.502 NA 13 80 0 0 0.00185496 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253550 32253550 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr21:32253550A>G uc002yov.2 - 1 325 c.294T>C c.(292-294)ACT>ACC p.T98T NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 98 keratin filament structural molecule activity pancreas(1) 1 GGCTGTAGGTAGTTGAGCAGG 0.567 NA 6 43 0 0 0.00116845 0 0 MRPS6 64968 broad.mit.edu 37 21 35497779 35497779 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr21:35497779G>T uc002ytp.2 + 2 362 c.184G>T c.(184-186)GGG>TGG p.G62W NM_032476 NP_115865 P82932 RT06_HUMAN mitochondrial ribosomal protein S6 62 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome skin(1) 1 CAACAGAGGCGGGTAAGTTTC 0.433 NA 26 104 3.28513e-13 1.48435e-12 0.00395357 1 0 POTEH 23784 broad.mit.edu 37 22 16287493 16287493 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:16287493G>T uc010gqp.2 - 1 445 c.393C>A c.(391-393)CTC>CTA p.L131L POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 131 skin(1) 1 TCTTGCTCCTGAGTGTCTTCA 0.617 NA 36 273 2.00842e-17 9.45427e-17 0.0025221 1 0 OR11H1 81061 broad.mit.edu 37 22 16449081 16449081 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:16449081C>A uc011agd.1 - 1 724 c.724G>T c.(724-726)GGT>TGT p.G242C NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 242 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GAAGGCATACCCAACATAGCT 0.408 NA 49 166 3.10996e-30 1.57362e-29 0.00361006 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072290 17072290 + Missense_Mutation SNP C C A rs141686687 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:17072290C>A uc002zlp.1 - 1 1411 c.1151G>T c.(1150-1152)GGG>GTG p.G384V NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 384 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ACTCCGCAGCCCCTGGGTGGT 0.567 NA 18 29 5.35267e-07 1.93354e-06 0.000958276 1 0 ARVCF 421 broad.mit.edu 37 22 19960554 19960554 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:19960554G>A uc002zqz.2 - 15 2715 c.2444C>T c.(2443-2445)TCG>TTG p.S815L ARVCF_uc002zqy.2_Missense_Mutation_p.S331L NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 815 ARM 10. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TTCGCGTACCGATTGGCTGTG 0.687 NA 5 17 0 0 0.00116845 0 0 MAPK1 5594 broad.mit.edu 37 22 22142565 22142565 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:22142565G>A uc002zvn.2 - 6 1077 c.837C>T c.(835-837)TTC>TTT p.F279F MAPK1_uc002zvo.2_Silent_p.F279F|MAPK1_uc010gtk.1_Intron NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 279 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) CAGCATTTGGGAACAGCCTGT 0.363 NA 13 63 0 0 0.00400662 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722752 30722752 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:30722752G>C uc011akt.1 - 1 143 c.119C>G c.(118-120)TCT>TGT p.S40C TBC1D10A_uc010gvu.2_Missense_Mutation_p.S40C|TBC1D10A_uc003ahk.3_Missense_Mutation_p.S40C NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 40 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 AGACCCGAGAGAGCTGAGTTC 0.597 NA 5 20 0 0 0.000602214 0 0 PNPLA5 150379 broad.mit.edu 37 22 44285300 44285300 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr22:44285300A>T uc003beg.2 - 4 708 c.611T>A c.(610-612)CTG>CAG p.L204Q PNPLA5_uc011aqc.1_Missense_Mutation_p.L64Q|PNPLA5_uc003beh.2_Missense_Mutation_p.L90Q NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 204 lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) CAGCTCATGCAGGTTGGGGGA 0.567 NA 15 74 0 0 0.000566183 0 0 FANCD2 2177 broad.mit.edu 37 3 10140527 10140527 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:10140527G>T uc003buw.2 + 43 4387 c.4309G>T c.(4309-4311)GGC>TGC p.G1437C FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1437 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) ACCAGAGTCTGGCACTGATGG 0.458 NA D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 14 50 3.27435e-08 1.2461e-07 0.00244969 1 0 ATP2B2 491 broad.mit.edu 37 3 10413663 10413663 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:10413663A>T uc003bvt.2 - 12 1928 c.1489T>A c.(1489-1491)TGC>AGC p.C497S ATP2B2_uc003bvv.2_Missense_Mutation_p.C452S|ATP2B2_uc003bvw.2_Missense_Mutation_p.C452S|ATP2B2_uc010hdo.2_Missense_Mutation_p.C202S NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 497 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTGTCTGAGCAGATGGCTGTG 0.562 Ovarian(125;1619 1709 15675 19819 38835) NA 20 41 0 0 0.00188189 0 0 KCNH8 131096 broad.mit.edu 37 3 19389436 19389436 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:19389436G>T uc003cbk.1 + 5 985 c.790G>T c.(790-792)GTG>TTG p.V264L KCNH8_uc011awe.1_Missense_Mutation_p.V264L|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 264 Helical; Name=Segment S2; (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TGACATTGCAGTGGAGATTCT 0.403 NSCLC(124;1625 1765 8018 24930 42026) NA 25 80 2.79863e-10 1.14574e-09 0.00465635 1 0 ARPP21 10777 broad.mit.edu 37 3 35835431 35835431 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:35835431G>T uc003cgb.2 + 20 2684 c.2420G>T c.(2419-2421)GGT>GTT p.G807V ARPP21_uc003cga.2_Missense_Mutation_p.G788V|ARPP21_uc011axy.1_Missense_Mutation_p.G808V|ARPP21_uc003cgf.2_Missense_Mutation_p.G643V|ARPP21_uc003cgg.2_Missense_Mutation_p.G330V NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 807 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGCAATGCTGGTTGGCAGGTC 0.498 NA 7 12 0.00198382 0.00580117 0.00198382 1 0 SEMA3G 56920 broad.mit.edu 37 3 52474509 52474509 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:52474509C>G uc003dea.1 - 10 1027 c.1027G>C c.(1027-1029)GTG>CTG p.V343L NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 343 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ATGTGGTACACACAGACGGCG 0.622 NA 2 3 0 0 6.4e-05 0 0 CCDC66 285331 broad.mit.edu 37 3 56627033 56627033 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:56627033G>C uc003dhz.2 + 8 1059 c.972G>C c.(970-972)GTG>GTC p.V324V CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.V290V|CCDC66_uc003dhx.2_RNA NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 324 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TCAGTGCTGTGAAACAAGAAC 0.338 NA 16 118 0 0 0.000958276 0 0 SUCLG2 8801 broad.mit.edu 37 3 67546341 67546341 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:67546341C>A uc003dna.3 - 9 971 c.943G>T c.(943-945)GCT>TCT p.A315S SUCLG2_uc010hob.2_Intron NM_003848 NP_003839 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming beta subunit 315 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|skin(1) 2 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TCACAAGTAGCCATGGCGAGC 0.438 NA 10 21 3.07112e-06 1.05307e-05 0.000978159 1 0 GPR27 2850 broad.mit.edu 37 3 71804195 71804195 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:71804195G>T uc011bge.1 + 1 995 c.995G>T c.(994-996)GGC>GTC p.G332V EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 332 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GCGCAGGCCGGCATCAACCCC 0.706 NA 4 8 0.00024832 0.000757292 0.00024832 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433092 73433092 + Silent SNP C C G rs141774740 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:73433092C>G uc003dpl.1 - 10 2721 c.2625G>C c.(2623-2625)GCG>GCC p.A875A PDZRN3_uc011bgh.1_Silent_p.A532A|PDZRN3_uc010hoe.1_Silent_p.A573A|PDZRN3_uc011bgf.1_Silent_p.A592A|PDZRN3_uc011bgg.1_Silent_p.A595A NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 875 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCTGGGCGTGCGCCGGGATGT 0.652 NA 6 30 0 0 0.00116845 0 0 CNTN3 5067 broad.mit.edu 37 3 74347277 74347277 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:74347277C>A uc003dpm.1 - 17 2312 c.2232G>T c.(2230-2232)GGG>GGT p.G744G NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 744 Fibronectin type-III 2. 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) AGGTGGTAACCCCAAGAGGGC 0.453 NA 11 44 0.000978159 0.00289167 0.000978159 1 0 CADM2 253559 broad.mit.edu 37 3 86010741 86010741 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:86010741G>T uc003dqj.2 + 7 1513 c.887G>T c.(886-888)TGT>TTT p.C296F CADM2_uc003dqk.2_Missense_Mutation_p.C305F|CADM2_uc003dql.2_Missense_Mutation_p.C298F NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 296 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACATATCGATGTGAAGCCACA 0.413 NA 12 91 2.27111e-07 8.27027e-07 0.00136819 1 0 DPPA4 55211 broad.mit.edu 37 3 109050872 109050872 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:109050872C>A uc003dxq.3 - 3 240 c.185G>T c.(184-186)TGC>TTC p.C62F DPPA4_uc011bho.1_Missense_Mutation_p.C62F|DPPA4_uc011bhp.1_Missense_Mutation_p.C62F NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 62 nucleus protein binding upper_aerodigestive_tract(1) 1 TTTCTTAGGGCAGAGCACTGA 0.358 NA 10 97 3.86212e-05 0.000124232 0.000673444 1 0 WDR52 55779 broad.mit.edu 37 3 113082352 113082352 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:113082352C>A uc003eae.1 - 20 2789 c.2743G>T c.(2743-2745)GAA>TAA p.E915* WDR52_uc003ead.1_Nonsense_Mutation_p.E96* NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 915 central_nervous_system(1) 1 TCAATGTCTTCTGGAATTGGC 0.363 NA 8 45 0.00307968 0.00896691 0.00307968 1 0 HCLS1 3059 broad.mit.edu 37 3 121350993 121350993 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:121350993C>A uc003eeh.3 - 13 1404 c.1279G>T c.(1279-1281)GTG>TTG p.V427L HCLS1_uc011bjj.1_Missense_Mutation_p.V390L NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 427 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CCCAGagccacagccccagcc 0.428 NA 9 48 0.000274275 0.00083082 0.00448238 1 0 SRPRB 58477 broad.mit.edu 37 3 133524720 133524720 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:133524720G>A uc003epx.1 + 1 44 c.28G>A c.(28-30)GCA>ACA p.A10T NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 10 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 GCGCCGGGTGGCAGATGGCGG 0.682 NA 6 30 0 0 0.00198382 0 0 TRIM42 287015 broad.mit.edu 37 3 140409921 140409921 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:140409921G>A uc003eto.1 + 4 2163 c.1972G>A c.(1972-1974)GAC>AAC p.D658N NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 658 Fibronectin type-III. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 ACAAATTCGGGACATAATGCA 0.443 NA 14 97 0 0 0.00185496 0 0 PLSCR2 57047 broad.mit.edu 37 3 146176237 146176237 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:146176237C>A uc003evv.1 - 4 394 c.61G>T c.(61-63)GAT>TAT p.D21Y PLSCR2_uc003evw.1_Missense_Mutation_p.D90Y NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 21 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 AGTATCATATCTATCTATTAT 0.234 NA 4 14 1.23904e-05 4.04334e-05 0.000602214 1 0 AGTR1 185 broad.mit.edu 37 3 148459034 148459034 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:148459034C>A uc003ewg.2 + 4 658 c.212C>A c.(211-213)GCA>GAA p.A71E AGTR1_uc003ewh.2_Missense_Mutation_p.A71E|AGTR1_uc003ewi.2_Missense_Mutation_p.A71E|AGTR1_uc003ewj.2_Missense_Mutation_p.A71E|AGTR1_uc003ewk.2_Missense_Mutation_p.A71E NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 71 Helical; Name=2; (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TTGAATTTAGCACTGGCTGAC 0.408 NA 14 48 2.61681e-11 1.11877e-10 0.00244969 1 0 FAM194A 131831 broad.mit.edu 37 3 150396332 150396332 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:150396332C>A uc003eyg.2 - 10 1178 c.1121G>T c.(1120-1122)CGC>CTC p.R374L FAM194A_uc003eyh.2_Missense_Mutation_p.R228L NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 374 skin(2)|ovary(1) 3 TGTTTTTAAGCGCTTTGAATC 0.269 NA 11 32 6.40141e-05 0.00020349 0.000978159 1 0 GPR149 344758 broad.mit.edu 37 3 154145425 154145425 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:154145425G>T uc003faa.2 - 2 1154 c.1054C>A c.(1054-1056)CTG>ATG p.L352M NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 352 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTGGCCAGCAGGGTAAGTAGA 0.532 NA 6 23 5.9392e-07 2.12271e-06 0.00116845 1 0 RFC4 5984 broad.mit.edu 37 3 186510311 186510311 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr3:186510311C>T uc003fqz.2 - 7 866 c.643G>A c.(643-645)GCC>ACC p.A215T RFC4_uc011bsc.1_Missense_Mutation_p.A215T|RFC4_uc011bsd.1_Missense_Mutation_p.A215T NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 215 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TCCTTCTTGGCAATGTCTAGT 0.353 NA 30 111 0 0 0.00106085 0 0 CPZ 8532 broad.mit.edu 37 4 8607877 8607877 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:8607877A>G uc003glm.2 + 5 997 c.871A>G c.(871-873)ATG>GTG p.M291V CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.M154V|CPZ_uc003glo.2_Missense_Mutation_p.M280V|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 291 M -> I (in Ref. 1; AAB58911). proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GCTGCCCTCCATGAACCCTGA 0.617 NA 3 12 0 0 0.00024832 0 0 PI4K2B 55300 broad.mit.edu 37 4 25256887 25256887 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:25256887G>T uc003grk.2 + 3 757 c.624G>T c.(622-624)AAG>AAT p.K208N PI4K2B_uc011bxs.1_Missense_Mutation_p.K112N NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 208 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) CTAAAACAAAGGTAAGCCAGA 0.398 NA 12 26 0.000151284 0.000470934 0.00185496 1 0 TBC1D19 55296 broad.mit.edu 37 4 26638832 26638832 + Splice_Site SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:26638832G>T uc003gsf.3 + 5 565 c.295_splice c.e5-1 p.G99_splice TBC1D19_uc010iew.2_Splice_Site_p.G99_splice|TBC1D19_uc011bxu.1_Splice_Site_p.G34_splice NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) TTATGTTTCAGGGAAGTTGGG 0.279 NA 17 35 2.35188e-11 1.0087e-10 0.00074312 1 0 PCDH7 5099 broad.mit.edu 37 4 30726066 30726066 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:30726066C>A uc003gsk.1 + 1 4030 c.3022C>A c.(3022-3024)CAT>AAT p.H1008N PCDH7_uc011bxw.1_Missense_Mutation_p.H961N|PCDH7_uc011bxx.1_Missense_Mutation_p.H1008N NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 1008 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TGTTCAGCTTCATCCCCAGTC 0.517 NA 11 29 5.50884e-06 1.84676e-05 0.00136819 1 0 COX7B2 170712 broad.mit.edu 37 4 46737207 46737207 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:46737207C>A uc003gxf.2 - 3 183 c.3G>T c.(1-3)ATG>ATT p.M1I COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 1 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 AGGGAAACATCATGAAGGATT 0.403 NA 13 47 2.32078e-09 9.19466e-09 0.00316338 1 0 NIPAL1 152519 broad.mit.edu 37 4 48032142 48032142 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:48032142G>A uc003gxw.2 + 3 385 c.319G>A c.(319-321)GGT>AGT p.G107S NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 107 Cytoplasmic (Potential). integral to membrane 0 TTTAGGACAAGGTGGACATTC 0.343 NA 11 52 0 0 0.000978159 0 0 C4orf40 401137 broad.mit.edu 37 4 71024281 71024281 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:71024281C>A uc003hfa.3 + 4 385 c.312C>A c.(310-312)CTC>CTA p.L104L C4orf40_uc003hfb.3_Silent_p.L104L NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 104 extracellular region 0 TTCCTCCTCTCCCTCCTAGGG 0.527 NA 33 125 9.04072e-19 4.30071e-18 0.00327116 1 0 MUC7 4589 broad.mit.edu 37 4 71347308 71347308 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:71347308G>C uc011cat.1 + 4 1135 c.847G>C c.(847-849)GCC>CCC p.A283P MUC7_uc011cau.1_Missense_Mutation_p.A283P|MUC7_uc003hfj.2_Missense_Mutation_p.A283P|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 283 6.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) GACCACAGCTGCCCCACCCAC 0.577 NA 43 142 0 0 0.0025221 0 0 PRKG2 5593 broad.mit.edu 37 4 82096055 82096055 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:82096055G>T uc003hmh.2 - 2 534 c.520C>A c.(520-522)CCT>ACT p.P174T PRKG2_uc011cch.1_Missense_Mutation_p.P174T NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 174 cGMP 1. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 ATCTGCTGAGGATCCAGTCTT 0.363 NA 31 124 1.06801e-11 4.65447e-11 0.00178596 1 0 ARHGAP24 83478 broad.mit.edu 37 4 86491874 86491875 + Splice_Site DNP GG GG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:86491874_86491875GG>TT uc003hpk.2 + 2 629 c.180_splice c.e2+1 p.L60_splice ARHGAP24_uc003hpi.1_Splice_Site_p.L60_splice|ARHGAP24_uc003hpj.2_Splice_Site_p.L60_splice NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CCAAGCCCTTGGTGAGTAGGAG 0.46 NA 14 53 0 0 6.4e-05 0 0 UBE2D3 7323 broad.mit.edu 37 4 103730964 103730964 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:103730964G>A uc003hwk.2 - 3 534 c.73C>T c.(73-75)CCA>TCA p.P25S UBE2D3_uc003hwi.2_Missense_Mutation_p.P25S|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.P25S|UBE2D3_uc011cet.1_Missense_Mutation_p.P25S|UBE2D3_uc011ceu.1_Missense_Mutation_p.P25S|UBE2D3_uc003hwo.2_Missense_Mutation_p.P25S|UBE2D3_uc003hwp.2_Missense_Mutation_p.P25S|UBE2D3_uc003hwq.2_Missense_Mutation_p.P27S|UBE2D3_uc003hwr.2_Missense_Mutation_p.P25S NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 25 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) TCCCCAACTGGACCTGCAGAA 0.363 NA 16 93 0 0 0.00400662 0 0 TACR3 6870 broad.mit.edu 37 4 104512718 104512718 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:104512718G>T uc003hxe.1 - 4 1154 c.1011C>A c.(1009-1011)GTC>GTA p.V337V NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 337 Helical; Name=7; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TAGCCAGGTAGACCTGCTGGA 0.398 NA 16 94 6.72482e-11 2.8215e-10 0.00316338 1 0 ANK2 287 broad.mit.edu 37 4 114278909 114278909 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:114278909G>T uc003ibe.3 + 38 9235 c.9135G>T c.(9133-9135)TGG>TGT p.W3045C ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.W347C|ANK2_uc011cgb.1_Missense_Mutation_p.W3060C NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3012 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGATTCTTGGAGTGAAATTC 0.413 NA 31 105 3.03874e-20 1.46619e-19 0.00327116 1 0 LARP1B 55132 broad.mit.edu 37 4 129043061 129043061 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:129043061G>T uc003iga.2 + 11 1373 c.1242G>T c.(1240-1242)TTG>TTT p.L414F LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.L414F|LARP1B_uc003igb.1_Missense_Mutation_p.L129F NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 414 RNA binding 0 TTGATTTTTTGTTTGATGAAG 0.338 NA 10 46 1.76689e-08 6.83975e-08 0.000442599 1 0 PCDH18 54510 broad.mit.edu 37 4 138451383 138451383 + Silent SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:138451383T>A uc003ihe.3 - 1 2247 c.1860A>T c.(1858-1860)ATA>ATT p.I620I PCDH18_uc003ihf.3_Silent_p.I613I|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.I400I|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 620 Cadherin 6.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TACCTGCTACTATGGCGCAGC 0.448 NA 60 212 0 0 0.00361006 0 0 IL15 3600 broad.mit.edu 37 4 142643115 142643115 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:142643115G>T uc003iis.2 + 5 518 c.149G>T c.(148-150)TGG>TTG p.W50L IL15_uc003iit.2_Missense_Mutation_p.W50L|IL15_uc010iol.2_RNA|IL15_uc003iiu.2_RNA NM_000585 NP_000576 P40933 IL15_HUMAN interleukin 15 preproprotein 50 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity 0 all_hematologic(180;0.158) GAAGCCAACTGGGTGAATGTA 0.353 Pancreas(10;184 986 25902) NA 16 102 2.4624e-09 9.72719e-09 0.00121646 1 0 DCHS2 54798 broad.mit.edu 37 4 155191131 155191131 + Silent SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:155191131A>G uc003inw.2 - 19 5133 c.5133T>C c.(5131-5133)CCT>CCC p.P1711P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1711 Cadherin 15. 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) GAATTGAGTCAGGAGCAAAAG 0.338 NA 18 94 0 0 0.00152264 0 0 NPY2R 4887 broad.mit.edu 37 4 156136118 156136118 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:156136118G>C uc003ioq.2 + 2 1522 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q NPY2R_uc003ior.2_Missense_Mutation_p.E343Q NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 343 Cytoplasmic (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) CTTCCGCTGTGAGCAGCGGTT 0.512 NA 6 88 0 0 0.00307968 0 0 FSTL5 56884 broad.mit.edu 37 4 162697220 162697220 + Missense_Mutation SNP T T G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:162697220T>G uc003iqh.2 - 5 852 c.416A>C c.(415-417)AAG>ACG p.K139T FSTL5_uc003iqi.2_Missense_Mutation_p.K138T|FSTL5_uc010iqv.2_Missense_Mutation_p.K138T NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 139 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGTCTTGCACTTATCTCCTGT 0.254 NA 3 28 0 0 0.00024832 0 0 TKTL2 84076 broad.mit.edu 37 4 164393100 164393100 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:164393100A>T uc003iqp.3 - 1 1948 c.1787T>A c.(1786-1788)GTG>GAG p.V596E NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 596 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACGTTGAGGCACTCCTGACAC 0.463 NA 13 55 0 0 0.00244969 0 0 DDX60 55601 broad.mit.edu 37 4 169158497 169158497 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:169158497C>A uc003irp.2 - 32 4643 c.4351G>T c.(4351-4353)GTT>TTT p.V1451F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1451 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTGACAAAAACAAGATTAGAA 0.353 NA 11 34 1.58986e-06 5.52161e-06 0.000673444 1 0 NEK1 4750 broad.mit.edu 37 4 170523765 170523765 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:170523765C>G uc003isb.1 - 2 509 c.17G>C c.(16-18)AGA>ACA p.R6T NEK1_uc003isc.1_Missense_Mutation_p.R6T|NEK1_uc003isd.1_Missense_Mutation_p.R6T|NEK1_uc003ise.1_Missense_Mutation_p.R6T|NEK1_uc003isf.1_Missense_Mutation_p.R6T NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 6 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CTTCTGTAGTCTAACATACTT 0.308 NA 13 83 0 0 0.00244969 0 0 ADAM29 11086 broad.mit.edu 37 4 175898063 175898063 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:175898063G>T uc003iuc.2 + 5 2057 c.1387G>T c.(1387-1389)GAT>TAT p.D463Y ADAM29_uc003iud.2_Missense_Mutation_p.D463Y|ADAM29_uc010irr.2_Missense_Mutation_p.D463Y|ADAM29_uc011cki.1_Missense_Mutation_p.D463Y NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 463 Disintegrin.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CAATGAATGTGATCTTCCAGA 0.448 Ovarian(140;1727 1835 21805 25838 41440) NA 7 55 8.12818e-05 0.000254784 0.00198382 1 0 ACSL1 2180 broad.mit.edu 37 4 185678789 185678789 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:185678789C>A uc003iww.2 - 20 2250 c.1956G>T c.(1954-1956)CAG>CAT p.Q652H ACSL1_uc011ckm.1_Missense_Mutation_p.Q481H|ACSL1_uc003iwt.1_Missense_Mutation_p.Q652H|ACSL1_uc003iwu.1_Missense_Mutation_p.Q652H|ACSL1_uc011ckn.1_Missense_Mutation_p.Q618H|ACSL1_uc003iws.1_Missense_Mutation_p.Q212H NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 652 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AAGGTCATACCTGTTCAAATG 0.348 NA 55 174 1.14385e-22 5.63995e-22 0.00361006 1 0 TLR3 7098 broad.mit.edu 37 4 186998018 186998018 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:186998018T>C uc003iyq.2 + 2 346 c.245T>C c.(244-246)GTA>GCA p.V82A NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 82 LRR 2.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AGCTTGGATGTAGGATTTAAC 0.418 NA 19 91 0 0 0.00121646 0 0 FAT1 2195 broad.mit.edu 37 4 187539651 187539651 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr4:187539651C>A uc003izf.2 - 10 8277 c.8089G>T c.(8089-8091)GAA>TAA p.E2697* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2697 Extracellular (Potential).|Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AGCTGCATTTCCGGTGGAAGG 0.393 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 17 152 5.3912e-06 1.83003e-05 0.00074312 1 0 SEMA5A 9037 broad.mit.edu 37 5 9202174 9202174 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:9202174G>A uc003jek.2 - 9 1537 c.825C>T c.(823-825)CGC>CGT p.R275R NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 275 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGCAGTTCAGGCGAGCCTTCA 0.522 NA 22 45 0 0 0.00278032 0 0 MARCH11 441061 broad.mit.edu 37 5 16067856 16067856 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:16067856G>T uc003jfo.2 - 4 1146 c.933C>A c.(931-933)CGC>CGA p.R311R MARCH11_uc010itw.1_Silent_p.R67R NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 311 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CAGCTCGCCAGCGCTTAAACA 0.428 NA 10 47 6.40141e-05 0.00020349 0.000978159 1 0 CDH9 1007 broad.mit.edu 37 5 26881683 26881683 + Silent SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:26881683A>T uc003jgs.1 - 12 2101 c.1932T>A c.(1930-1932)CCT>CCA p.P644P CDH9_uc011cnv.1_Silent_p.P237P NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 644 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AAATTATCAGAGGTTCCTTTT 0.388 Melanoma(8;187 585 15745 40864 52829) NA 11 113 0 0 0.000978159 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33616098 33616098 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:33616098C>A uc003jia.1 - 15 2386 c.2223G>T c.(2221-2223)CTG>CTT p.L741L ADAMTS12_uc010iuq.1_Silent_p.L656L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 741 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCCTGATGGCCAGGAAGTTTC 0.438 NA HNSCC(64;0.19) 11 74 7.03913e-09 2.75648e-08 0.00136819 1 0 SKP2 6502 broad.mit.edu 37 5 36171762 36171762 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:36171762G>T uc003jkc.1 + 7 1010 c.828G>T c.(826-828)GTG>GTT p.V276V SKP2_uc011cou.1_Silent_p.V62V|SKP2_uc003jkd.2_Silent_p.V276V NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 276 LRR 6. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGTACAGGTGGCTGTTGCGC 0.458 NA 83 140 4.47867e-22 2.19228e-21 0.00361006 1 0 RANBP3L 202151 broad.mit.edu 37 5 36270074 36270074 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:36270074G>T uc003jkh.2 - 3 662 c.169C>A c.(169-171)CTG>ATG p.L57M RANBP3L_uc011cow.1_Missense_Mutation_p.L57M NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 57 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GCTTCATACAGGGTGTCTTCT 0.328 NA 69 183 1.25089e-41 6.45019e-41 0.00361006 1 0 C7 730 broad.mit.edu 37 5 40947812 40947812 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:40947812C>T uc003jmh.2 + 8 961 c.847C>T c.(847-849)CTC>TTC p.L283F C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 283 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GCTTTCCCACCTCCCCTCTCT 0.448 NA 18 31 0 0 0.00074312 0 0 C7 730 broad.mit.edu 37 5 40958249 40958249 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:40958249C>T uc003jmh.2 + 11 1489 c.1375C>T c.(1375-1377)CCT>TCT p.P459S C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 459 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCATTGCCGGCCTTGTCAAAA 0.488 NA 15 58 0 0 0.00244969 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004995 41004995 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:41004995G>T uc003jmj.3 - 36 4382 c.3892C>A c.(3892-3894)CAT>AAT p.H1298N HEATR7B2_uc003jmi.3_Missense_Mutation_p.H853N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1298 binding ovary(6)|central_nervous_system(2) 8 AGATTCCCATGCTTCCAAAGG 0.527 NA 7 25 0.000274275 0.00083082 0.00448238 1 0 ITGA2 3673 broad.mit.edu 37 5 52371050 52371050 + Splice_Site SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:52371050G>T uc003joy.2 + 23 2885 c.2742_splice c.e23-1 p.S914_splice ITGA2_uc011cqa.1_Splice_Site|ITGA2_uc011cqb.1_Splice_Site|ITGA2_uc011cqc.1_Splice_Site_p.S838_splice|ITGA2_uc011cqd.1_Splice_Site|ITGA2_uc011cqe.1_Splice_Site NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCTTTCTATAGTGAAAGCCAA 0.353 NA 18 43 2.35188e-11 1.0087e-10 0.00074312 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54674315 54674315 + Splice_Site SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:54674315G>T uc003jpy.3 + 17 2249 c.1983_splice c.e17+1 p.K661_splice SKIV2L2_uc011cqi.1_Splice_Site_p.K560_splice NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTTGGTAAAGGTATGTCATTG 0.274 Melanoma(2;92 134 23744 29976 33782) NA 7 34 8.12818e-05 0.000254784 0.00198382 1 0 VCAN 1462 broad.mit.edu 37 5 82836404 82836404 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:82836404G>C uc003kii.3 + 8 7938 c.7582G>C c.(7582-7584)GAG>CAG p.E2528Q VCAN_uc003kij.3_Missense_Mutation_p.E1541Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1192Q NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2528 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGGGAATTCGAGGATTCCAC 0.408 NA 12 50 0 0 0.000978159 0 0 FBXL17 64839 broad.mit.edu 37 5 107559923 107559923 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:107559923C>A uc011cvc.1 - 5 1920 c.1513G>T c.(1513-1515)GAT>TAT p.D505Y FBXL17_uc003kon.3_Missense_Mutation_p.D107Y NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 505 0 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) ACTGACTGATCTGTCACCTAG 0.313 NA 16 28 2.32078e-09 9.19466e-09 0.00316338 1 0 CAMK4 814 broad.mit.edu 37 5 110814169 110814169 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:110814169C>A uc011cvj.1 + 10 891 c.792C>A c.(790-792)CCC>CCA p.P264P CAMK4_uc003kpf.2_Silent_p.P264P|CAMK4_uc010jbv.2_Silent_p.P67P NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 264 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTATCTCCCCCTGGTGGGATG 0.333 NA 30 69 2.85442e-18 1.35309e-17 0.00209593 1 0 YTHDC2 64848 broad.mit.edu 37 5 112849603 112849603 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:112849603C>G uc003kqn.2 + 1 194 c.11C>G c.(10-12)CCG>CGG p.P4R YTHDC2_uc010jce.1_Missense_Mutation_p.P4R|YTHDC2_uc010jcf.1_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 4 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATGTCCAGGCCGAGCAGCGTC 0.716 NA 5 8 0 0 0.00116845 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122927092 122927092 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:122927092A>T uc003ktm.2 + 10 1789 c.1070A>T c.(1069-1071)CAA>CTA p.Q357L CSNK1G3_uc003ktl.2_Missense_Mutation_p.Q357L|CSNK1G3_uc003ktn.2_Missense_Mutation_p.Q357L|CSNK1G3_uc003kto.2_Missense_Mutation_p.Q357L|CSNK1G3_uc011cwr.1_Missense_Mutation_p.Q282L|CSNK1G3_uc011cws.1_Missense_Mutation_p.Q245L|CSNK1G3_uc010jda.2_Missense_Mutation_p.Q358L NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 isoform 1 357 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) GATAAGATGCAACAATCCAAA 0.383 Pancreas(187;2868 2964 4353 6297) NA 7 32 0 0 0.00307968 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128958013 128958013 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:128958013C>A uc003kvb.1 + 10 1724 c.1724C>A c.(1723-1725)CCA>CAA p.P575Q ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 575 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTTTTGGGCCATTGGCTTCT 0.443 NA 10 35 5.50884e-06 1.84676e-05 0.00136819 1 0 SKP1 6500 broad.mit.edu 37 5 133509710 133509710 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:133509710G>A uc003kzc.3 - 2 183 c.4C>T c.(4-6)CCT>TCT p.P2S SKP1_uc003kzd.3_Missense_Mutation_p.P2S|SKP1_uc010jdv.2_Missense_Mutation_p.P2S NM_170679 NP_733779 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 isoform b 2 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTAATTGAAGGCATCTAAAAA 0.338 NA 13 42 0 0 0.00136819 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189029 140189029 + Nonsense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:140189029C>T uc003lhi.2 + 1 2358 c.2257C>T c.(2257-2259)CAG>TAG p.Q753* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.Q753*|PCDHA4_uc011daa.1_Nonsense_Mutation_p.Q753* NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 753 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACTCGCAGCAGAGGAGGCC 0.667 NA 12 34 0 0 0.00136819 0 0 PCDHB18 54660 broad.mit.edu 37 5 140615563 140615563 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:140615563C>A uc003ljc.1 + 1 1626 c.1278C>A c.(1276-1278)GAC>GAA p.D426E NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 CAGACAGAGACTCAGGCACCA 0.652 NA 35 88 5.91797e-21 2.87596e-20 0.0024448 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725926 140725926 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:140725926G>A uc003ljm.1 + 1 2326 c.2326G>A c.(2326-2328)GCG>ACG p.A776T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.A536T|PCDHGA3_uc011dap.1_Missense_Mutation_p.A776T NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 776 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAACTATGCGGACACGCT 0.547 NA 25 69 0 0 0.00127121 0 0 ABLIM3 22885 broad.mit.edu 37 5 148626046 148626046 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:148626046G>T uc003lpy.2 + 17 1739 c.1488G>T c.(1486-1488)GTG>GTT p.V496V ABLIM3_uc003lpz.1_Silent_p.V496V|ABLIM3_uc003lqa.1_Silent_p.V393V|ABLIM3_uc003lqb.2_Silent_p.V385V|ABLIM3_uc003lqc.1_Silent_p.V463V|ABLIM3_uc003lqd.1_Silent_p.V401V|ABLIM3_uc003lqf.2_Silent_p.V385V|ABLIM3_uc003lqe.1_Silent_p.V385V NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 496 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGACAGTGCCCCGAGCCA 0.473 NA 11 22 6.40141e-05 0.00020349 0.000978159 1 0 SLC36A1 206358 broad.mit.edu 37 5 150858985 150858985 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr5:150858985G>T uc003luc.2 + 10 1311 c.1094G>T c.(1093-1095)CGA>CTA p.R365L GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.R365L|SLC36A1_uc010jhw.1_Missense_Mutation_p.R365L NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 365 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TTTGTGTCCCGAGCGCCCGAG 0.507 Melanoma(151;1534 1860 12947 32979 37872) NA 9 40 1.58986e-06 5.52161e-06 0.000673444 1 0 DEK 7913 broad.mit.edu 37 6 18258558 18258558 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:18258558C>G uc003ncr.1 - 3 417 c.224G>C c.(223-225)AGA>ACA p.R75T DEK_uc011djf.1_Intron|DEK_uc011djg.1_Intron NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 75 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) AAATGGCTCTCTCTGTAAGGA 0.353 NA T NUP214 AML 12 93 0 0 0.00136819 0 0 TNXB 7148 broad.mit.edu 37 6 32036389 32036389 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:32036389G>A uc003nzl.2 - 17 6200 c.5998C>T c.(5998-6000)CCT>TCT p.P2000S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2082 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGGGAGTCAGGGGTGGCATCT 0.632 NA 7 17 0 0 0.00448238 0 0 CRISP3 10321 broad.mit.edu 37 6 49696489 49696489 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:49696489C>A uc003ozs.2 - 8 707 c.692G>T c.(691-693)AGG>ATG p.R231M NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 231 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCAACTGTCCCTGACCAACTG 0.388 NA 30 89 1.7881e-09 7.16832e-09 0.001512 1 0 GSTA1 2938 broad.mit.edu 37 6 52657758 52657758 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:52657758G>T uc003paz.2 - 6 554 c.442C>A c.(442-444)CTT>ATT p.L148I NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 148 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TTGCCAACAAGGTAGTCTTGT 0.527 NA 28 73 7.01153e-11 2.93269e-10 0.00127121 1 0 BAI3 577 broad.mit.edu 37 6 69349230 69349230 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:69349230C>A uc003pev.3 + 3 1111 c.663C>A c.(661-663)CCC>CCA p.P221P BAI3_uc010kak.2_Silent_p.P221P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 221 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGTGTTACCCCTGAATGAGC 0.522 NA 12 20 3.07112e-06 1.05307e-05 0.000978159 1 0 MYO6 4646 broad.mit.edu 37 6 76599836 76599837 + Nonsense_Mutation DNP GG GG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:76599836_76599837GG>TT uc003pih.1 + 26 3000_3001 c.2721_2722GG>TT c.(2719-2724)GAGGAA>GATTAA p.907_908EE>D* MYO6_uc003pig.1_Nonsense_Mutation_p.907_908EE>D*|MYO6_uc003pii.1_Nonsense_Mutation_p.907_908EE>D* NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 907_908 Potential. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAGCTCAGAGGAACTCCTCAG 0.366 NA 21 67 0 0 6.4e-05 0 0 SFRS18 25957 broad.mit.edu 37 6 99854038 99854038 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:99854038C>G uc003ppo.3 - 8 1099 c.871G>C c.(871-873)GAT>CAT p.D291H SFRS18_uc003ppp.3_Missense_Mutation_p.D291H|SFRS18_uc011eag.1_Missense_Mutation_p.D291H NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 291 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TCTTCCTCATCACTATCCTAT 0.373 NA 14 26 0 0 0.00244969 0 0 GRIK2 2898 broad.mit.edu 37 6 102503354 102503354 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:102503354G>T uc003pqp.3 + 15 2710 c.2461G>T c.(2461-2463)GGT>TGT p.G821C GRIK2_uc003pqo.3_Missense_Mutation_p.G821C|GRIK2_uc010kcw.2_Missense_Mutation_p.G821C NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 821 Helical; (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCAGAATATTGGTGGCATCTT 0.468 NA 31 61 3.67414e-24 1.82491e-23 0.0024448 1 0 SMPDL3A 10924 broad.mit.edu 37 6 123122474 123122474 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:123122474C>A uc003pzg.2 + 4 1012 c.491C>A c.(490-492)ACC>AAC p.T164N SMPDL3A_uc003pzh.2_Missense_Mutation_p.T33N NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 164 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) CCTGTAGTCACCAGTAAAGTG 0.328 NA 38 97 2.84425e-11 1.21217e-10 0.00285205 1 0 PTPRK 5796 broad.mit.edu 37 6 128312532 128312532 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:128312532G>A uc003qbk.2 - 20 3250 c.2883C>T c.(2881-2883)CCC>CCT p.P961P PTPRK_uc003qbj.2_Silent_p.P962P|PTPRK_uc010kfc.2_Silent_p.P968P|PTPRK_uc011ebu.1_Silent_p.P984P NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 961 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TTTCATGAACGGGACCTACAA 0.338 NA 13 24 0 0 0.00185496 0 0 LAMA2 3908 broad.mit.edu 37 6 129636648 129636648 + Silent SNP C C T rs1063373 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:129636648C>T uc003qbn.2 + 25 3688 c.3583C>T c.(3583-3585)CTA>TTA p.L1195L LAMA2_uc003qbo.2_Silent_p.L1195L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1195 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCAGACCATTCTACCCCTGGT 0.463 NA 19 46 0 0 0.00152264 0 0 TAAR9 134860 broad.mit.edu 37 6 132859864 132859864 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:132859864G>T uc011eci.1 + 2 438 c.436G>T c.(436-438)GTG>TTG p.V146L NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 146 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) CAAGTTTACTGTGTCAGTTTC 0.393 Colon(10;433 445 15992 45047 47213) NA 14 34 9.31168e-06 3.09854e-05 0.00185496 1 0 ZDHHC14 79683 broad.mit.edu 37 6 158014053 158014053 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:158014053G>C uc003qqt.2 + 3 937 c.440G>C c.(439-441)CGC>CCC p.R147P ZDHHC14_uc003qqs.2_Missense_Mutation_p.R147P|ZDHHC14_uc010kjm.1_Missense_Mutation_p.R42P NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 147 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GGGGGGTACCGCCCGCCTCCC 0.567 NA 16 38 0 0 0.00400662 0 0 LPA 4018 broad.mit.edu 37 6 160969685 160969685 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr6:160969685C>T uc003qtl.2 - 32 5100 c.4980G>A c.(4978-4980)CTG>CTA p.L1660L NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4168 Kringle 37. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGTTCATTGTCAGGCCACTGG 0.478 NA 13 36 0 0 0.00244969 0 0 PDE1C 5137 broad.mit.edu 37 7 31867932 31867932 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:31867932G>T uc003tcm.1 - 12 1728 c.1259C>A c.(1258-1260)TCC>TAC p.S420Y PDE1C_uc003tcn.1_Missense_Mutation_p.S420Y|PDE1C_uc003tco.1_Missense_Mutation_p.S480Y|PDE1C_uc003tcr.2_Missense_Mutation_p.S420Y|PDE1C_uc003tcs.2_Missense_Mutation_p.S420Y NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 420 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) AACCATAGTGGACTTTCGGTC 0.468 NA 8 34 1.06961e-07 3.98085e-07 0.00307968 1 0 VPS41 27072 broad.mit.edu 37 7 38857421 38857421 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:38857421T>A uc003tgy.2 - 7 472 c.446A>T c.(445-447)AAG>ATG p.K149M VPS41_uc003tgz.2_Missense_Mutation_p.K124M|VPS41_uc010kxn.2_Missense_Mutation_p.K149M NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 149 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 ACTTACCTTCTTCCCTCCGGT 0.433 NA 21 60 0 0 0.00278032 0 0 CDC14C 168448 broad.mit.edu 37 7 48964526 48964526 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:48964526G>T uc010kyv.1 + 1 370 c.258G>T c.(256-258)AAG>AAT p.K86N NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 TGTTAAGGAAGAAAATTGTTC 0.378 NA 9 61 0.000219431 0.000672226 0.00244969 1 0 ZNF735 730291 broad.mit.edu 37 7 63680250 63680250 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:63680250G>C uc011kdn.1 + 4 821 c.821G>C c.(820-822)TGT>TCT p.C274S NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 274 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTGAAGAATGTGGCCAAGCC 0.453 NA 12 35 0 0 0.00136819 0 0 RABGEF1 27342 broad.mit.edu 37 7 66240365 66240365 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:66240365G>A uc011kee.1 + 3 537 c.373G>A c.(373-375)GTC>ATC p.V125I RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.V111I|RABGEF1_uc003tvh.2_Missense_Mutation_p.V111I|RABGEF1_uc003tvi.2_5'UTR NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 289 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 ATCTTCCAGGGTCGGATCAAA 0.443 NA 13 50 0 0 0.00244969 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657661 72657661 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:72657661C>A uc003txs.1 - 13 2251 c.1323G>T c.(1321-1323)AAG>AAT p.K441N FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 ggaattcggtcttgagttccg 0 NA 19 69 1.36615e-20 6.61528e-20 0.00283554 1 0 SEMA3C 10512 broad.mit.edu 37 7 80427413 80427413 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:80427413C>A uc003uhj.2 - 11 1688 c.1126G>T c.(1126-1128)GGA>TGA p.G376* SEMA3C_uc011kgw.1_Nonsense_Mutation_p.G394*|SEMA3C_uc011kgx.1_Nonsense_Mutation_p.G228* NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 376 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 CTTACAGTTCCAGGGCGAGGA 0.383 NA 12 33 0.00316338 0.00919081 0.00316338 1 0 ABCB1 5243 broad.mit.edu 37 7 87175280 87175280 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:87175280C>G uc003uiz.1 - 16 2204 c.1786G>C c.(1786-1788)GAC>CAC p.D596H ABCB1_uc011khc.1_Missense_Mutation_p.D532H NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 596 ABC transporter 1.|Cytoplasmic (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) GCGATGACGTCAGCATTACGA 0.393 NA 4 88 0 0 0.00024832 0 0 GTPBP10 85865 broad.mit.edu 37 7 90014350 90014350 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:90014350A>T uc003ukm.1 + 10 1112 c.1046A>T c.(1045-1047)CAG>CTG p.Q349L GTPBP10_uc003ukn.1_Missense_Mutation_p.Q270L|GTPBP10_uc003uko.1_Missense_Mutation_p.Q159L|CLDN12_uc003ukp.2_5'UTR|CLDN12_uc003ukq.2_5'UTR NM_033107 NP_149098 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 isoform 2 349 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding 0 CAGGCCAACCAGGAAAATGAT 0.388 NA 26 121 0 0 0.000878237 0 0 SAMD9 54809 broad.mit.edu 37 7 92733058 92733058 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:92733058C>A uc003umf.2 - 3 2609 c.2353G>T c.(2353-2355)GCA>TCA p.A785S SAMD9_uc003umg.2_Missense_Mutation_p.A785S NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 785 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CGGTTCATTGCCCCATAGGTG 0.388 NA 28 130 3.99451e-17 1.87381e-16 0.00178596 1 0 MUC17 140453 broad.mit.edu 37 7 100679317 100679317 + Silent SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:100679317C>G uc003uxp.1 + 3 4673 c.4620C>G c.(4618-4620)GTC>GTG p.V1540V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1540 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|23. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTGCTGTCACCAGCACAC 0.478 NA 56 220 0 0 0.00361006 0 0 MUC17 140453 broad.mit.edu 37 7 100682907 100682907 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:100682907A>T uc003uxp.1 + 3 8263 c.8210A>T c.(8209-8211)GAA>GTA p.E2737V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2737 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACAACTGCTGAAGGTACCAGC 0.502 NA 60 296 0 0 0.00361006 0 0 RELN 5649 broad.mit.edu 37 7 103290776 103290776 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:103290776C>A uc003vca.2 - 16 2107 c.1947G>T c.(1945-1947)AGG>AGT p.R649S RELN_uc010liz.2_Missense_Mutation_p.R649S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 649 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) TCCAGCGAATCCTGGTGTTCC 0.423 NSCLC(146;835 1944 15585 22231 52158) NA 20 51 1.50039e-11 6.49688e-11 0.00188189 1 0 MLL5 55904 broad.mit.edu 37 7 104719376 104719376 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:104719376G>T uc003vcm.2 + 12 1748 c.1214G>T c.(1213-1215)CGA>CTA p.R405L MLL5_uc010lja.1_Missense_Mutation_p.R259L|MLL5_uc010ljb.1_Missense_Mutation_p.R405L|MLL5_uc003vcl.2_Missense_Mutation_p.R405L|MLL5_uc010ljc.2_Missense_Mutation_p.R405L|MLL5_uc003vco.1_Intron|MLL5_uc010ljd.1_Missense_Mutation_p.R43L NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 405 SET. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 AATGAGGCTCGATTCATCAGG 0.423 NA 22 70 5.35356e-11 2.25316e-10 0.00278032 1 0 LAMB1 3912 broad.mit.edu 37 7 107575913 107575913 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:107575913C>G uc003vew.2 - 27 4470 c.4135G>C c.(4135-4137)GAT>CAT p.D1379H LAMB1_uc003vev.2_Missense_Mutation_p.D1403H NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1379 Potential.|Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCAGTTCATCAAGGAGGCGA 0.507 NA 20 162 0 0 0.00152264 0 0 LAMB1 3912 broad.mit.edu 37 7 107580657 107580657 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:107580657G>T uc003vew.2 - 25 3873 c.3538C>A c.(3538-3540)CAC>AAC p.H1180N LAMB1_uc003vev.2_Missense_Mutation_p.H1204N NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1180 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGCACTGGTGGCAGGGTGTG 0.577 NA 9 48 1.12685e-05 3.70408e-05 0.00448238 1 0 PNPLA8 50640 broad.mit.edu 37 7 108128275 108128275 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:108128275C>G uc003vff.1 - 10 2213 c.1806G>C c.(1804-1806)TGG>TGC p.W602C PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.W602C|PNPLA8_uc003vfi.1_Missense_Mutation_p.W502C|PNPLA8_uc003vfj.1_Missense_Mutation_p.W602C|PNPLA8_uc003vfk.1_Missense_Mutation_p.W502C NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 602 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 TAATGGCCTGCCACATTTTAT 0.388 NA 11 47 0 0 0.000978159 0 0 C7orf58 79974 broad.mit.edu 37 7 120935629 120935629 + Missense_Mutation SNP C C T rs147434701 byFrequency TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:120935629C>T uc003vjq.3 + 23 3451 c.3004C>T c.(3004-3006)CAT>TAT p.H1002Y NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 1002 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ATCGCCATATCATGTCAGAGG 0.378 NA 23 103 0 0 0.000878237 0 0 POT1 25913 broad.mit.edu 37 7 124503463 124503463 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:124503463C>A uc003vlm.2 - 8 1088 c.487G>T c.(487-489)GAC>TAC p.D163Y POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.D32Y|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 163 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 CAAGTCAGGTCAAAATACTGC 0.403 Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 21 97 1.10513e-12 4.8952e-12 0.00229938 1 0 EXOC4 60412 broad.mit.edu 37 7 133160178 133160178 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:133160178G>A uc003vrk.2 + 8 1314 c.1279G>A c.(1279-1281)GCC>ACC p.A427T EXOC4_uc011kpo.1_Missense_Mutation_p.A326T|EXOC4_uc003vri.2_Missense_Mutation_p.A427T|EXOC4_uc003vrj.2_Missense_Mutation_p.A427T NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 427 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AGAGTTTGCAGCCTTTTTTGC 0.378 NA 30 136 0 0 0.00375469 0 0 CALD1 800 broad.mit.edu 37 7 134613555 134613555 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:134613555G>A uc003vrz.2 + 4 581 c.122G>A c.(121-123)CGG>CAG p.R41Q CALD1_uc003vry.2_Missense_Mutation_p.R41Q|CALD1_uc003vsa.2_Missense_Mutation_p.R41Q|CALD1_uc003vsb.2_Missense_Mutation_p.R41Q|CALD1_uc010lmm.2_Missense_Mutation_p.R41Q|CALD1_uc011kpt.1_5'UTR|CALD1_uc003vsc.2_Missense_Mutation_p.R35Q|CALD1_uc003vsd.2_Missense_Mutation_p.R35Q|CALD1_uc011kpu.1_Missense_Mutation_p.R46Q|CALD1_uc011kpv.1_5'UTR NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 41 Poly-Arg.|Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 GCCCGGGAACGGCGCCGCCGA 0.587 NA 6 26 0 0 0.00307968 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478324 141478324 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:141478324C>T uc003vwq.1 + 1 36 c.36C>T c.(34-36)GCC>GCT p.A12A NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 12 Helical; Name=1; (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) CTATTATTGCCTCAGTTATTT 0.353 NA 12 50 0 0 0.000978159 0 0 OR9A4 130075 broad.mit.edu 37 7 141619587 141619587 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:141619587G>C uc003vwu.1 + 1 912 c.912G>C c.(910-912)GGG>GGC p.G304G NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TTCGGGATGGGGTGAAACGCT 0.423 NA 12 57 0 0 0.00136819 0 0 OR6V1 346517 broad.mit.edu 37 7 142749748 142749748 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:142749748C>A uc011ksv.1 + 1 311 c.311C>A c.(310-312)TCC>TAC p.S104Y NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) TTCCACTTTTCCCTGGGGTCC 0.562 NA 14 73 1.36491e-13 6.20874e-13 0.00185496 1 0 OR2A5 393046 broad.mit.edu 37 7 143748240 143748240 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:143748240G>T uc011ktw.1 + 1 746 c.746G>T c.(745-747)GGA>GTA p.G249V NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TGCATGGTGGGACTCTTCTTT 0.587 NA 9 68 5.4927e-09 2.15716e-08 0.00448238 1 0 CDK5 1020 broad.mit.edu 37 7 150752397 150752397 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:150752397T>A uc003wir.1 - 8 608 c.547A>T c.(547-549)ATC>TTC p.I183F CDK5_uc003wis.1_Missense_Mutation_p.I151F NM_004935 NP_004926 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 isoform 1 183 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity lung(1)|central_nervous_system(1) 2 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CACATGTCGATGGACGTGGAG 0.582 NA 7 23 0 0 0.00448238 0 0 MLL3 58508 broad.mit.edu 37 7 151856020 151856020 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:151856020C>G uc003wla.2 - 44 11817 c.11598G>C c.(11596-11598)AAG>AAC p.K3866N MLL3_uc003wkz.2_Missense_Mutation_p.K2927N|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Missense_Mutation_p.K1375N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3866 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTTTCCTTTTCTTTGAGCGAG 0.483 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 149 0 0 0.00316338 0 0 MLL3 58508 broad.mit.edu 37 7 151945133 151945133 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr7:151945133T>A uc003wla.2 - 14 2605 c.2386A>T c.(2386-2388)ATG>TTG p.M796L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 796 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTATGCAGCATGTCATGCGAA 0.448 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 27 561 0 0 0.001512 0 0 RP1L1 94137 broad.mit.edu 37 8 10467395 10467395 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:10467395C>T uc003wtc.2 - 4 4442 c.4213G>A c.(4213-4215)GTC>ATC p.V1405I NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1405 intracellular signal transduction p.V1405I(1) ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGCCCGTGGACGCTTCCTTCT 0.562 NA 64 211 0 0 0.00361006 0 0 DLC1 10395 broad.mit.edu 37 8 12943362 12943362 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:12943362G>C uc003wwm.2 - 18 4989 c.4545C>G c.(4543-4545)TTC>TTG p.F1515L DLC1_uc003wwk.1_Missense_Mutation_p.F1078L|DLC1_uc003wwl.1_Missense_Mutation_p.F1112L|DLC1_uc011kxx.1_Missense_Mutation_p.F1004L NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1515 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TCTGGTTACTGAAGGAATCCC 0.433 NA 4 67 0 0 0.00024832 0 0 UNC5D 137970 broad.mit.edu 37 8 35608192 35608192 + Nonsense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:35608192T>A uc003xjr.1 + 13 2356 c.2028T>A c.(2026-2028)TAT>TAA p.Y676* UNC5D_uc003xjs.1_Nonsense_Mutation_p.Y671*|UNC5D_uc003xju.1_Nonsense_Mutation_p.Y252* NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 676 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGGACCTATGCGCTCACTG 0.512 NA 13 78 0 0 0.00185496 0 0 SNTG1 54212 broad.mit.edu 37 8 51314850 51314850 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:51314850G>T uc010lxy.1 + 5 479 c.108G>T c.(106-108)TTG>TTT p.L36F SNTG1_uc003xqs.1_Missense_Mutation_p.L36F|SNTG1_uc010lxz.1_Missense_Mutation_p.L36F|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 36 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) AAGACATTTTGATGATCCAGG 0.383 NA 25 121 6.32553e-13 2.82973e-12 0.00465635 1 0 C8orf45 157777 broad.mit.edu 37 8 67790844 67790844 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:67790844A>G uc003xwz.3 + 6 688 c.517A>G c.(517-519)ACA>GCA p.T173A C8orf45_uc003xwv.2_Missense_Mutation_p.T173A|C8orf45_uc011lev.1_Missense_Mutation_p.T173A|C8orf45_uc011lew.1_Missense_Mutation_p.T104A|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.T173A NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 173 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCCTGGTGCTACAGAATCTGC 0.318 NA 28 102 0 0 0.00178596 0 0 SULF1 23213 broad.mit.edu 37 8 70539471 70539471 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:70539471T>C uc010lza.1 + 16 2594 c.1877T>C c.(1876-1878)ATC>ACC p.I626T SULF1_uc003xyd.2_Missense_Mutation_p.I626T|SULF1_uc003xye.2_Missense_Mutation_p.I626T|SULF1_uc003xyf.2_Missense_Mutation_p.I626T|SULF1_uc003xyg.2_Missense_Mutation_p.I626T|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'Flank NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 626 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AATGACTCTATCCATTGTGAG 0.388 NA 4 32 0 0 0.00024832 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667841 70667841 + Missense_Mutation SNP A A C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:70667841A>C uc003xyl.2 - 4 1783 c.1076T>G c.(1075-1077)TTT>TGT p.F359C SLCO5A1_uc010lzb.2_Missense_Mutation_p.F359C|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.F359C|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F359C NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 359 Helical; Name=6; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TATCACAAGAAACATTGCAAT 0.343 NA 7 44 0 0 0.000673444 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765873 77765873 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:77765873G>T uc003yav.2 + 10 6968 c.6581G>T c.(6580-6582)AGG>ATG p.R2194M ZFHX4_uc003yau.1_Missense_Mutation_p.R2239M|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2194M NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2194 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TACCAGCTTAGGGTTCTGCAA 0.398 NA HNSCC(33;0.089) 17 20 3.41278e-10 1.39295e-09 0.000566183 1 0 RUNX1T1 862 broad.mit.edu 37 8 92998434 92998434 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:92998434G>T uc003yfd.2 - 8 1281 c.1197C>A c.(1195-1197)GCC>GCA p.A399A RUNX1T1_uc003yfc.1_Silent_p.A372A|RUNX1T1_uc003yfe.1_Silent_p.A362A|RUNX1T1_uc010mao.2_Silent_p.A372A|RUNX1T1_uc011lgi.1_Silent_p.A410A|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.A362A NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 399 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTAAGTCCTCGGCGTCACTGT 0.512 NA 49 90 3.86236e-30 1.94703e-29 0.00361006 1 0 VPS13B 157680 broad.mit.edu 37 8 100148930 100148930 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:100148930G>T uc003yiv.2 + 12 1712 c.1601G>T c.(1600-1602)GGG>GTG p.G534V VPS13B_uc003yiw.2_Missense_Mutation_p.G534V|VPS13B_uc003yit.2_Missense_Mutation_p.G534V|VPS13B_uc003yiu.1_Missense_Mutation_p.G534V|VPS13B_uc003yix.1_Missense_Mutation_p.G5V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 534 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAACGGTTTGGGGCTTTTTAT 0.368 Colon(161;2205 2542 7338 31318) NA 41 183 3.77016e-25 1.88648e-24 0.00321405 1 0 VPS13B 157680 broad.mit.edu 37 8 100182324 100182324 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:100182324C>T uc003yiv.2 + 16 2377 c.2266C>T c.(2266-2268)CCT>TCT p.P756S VPS13B_uc003yiw.2_Missense_Mutation_p.P756S|VPS13B_uc003yit.2_Missense_Mutation_p.P756S|VPS13B_uc003yiu.1_Missense_Mutation_p.P756S|VPS13B_uc003yix.1_Missense_Mutation_p.P227S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 756 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTACTGCTTACCTGTACCAGT 0.393 Colon(161;2205 2542 7338 31318) NA 8 103 0 0 0.000442599 0 0 KLHL38 340359 broad.mit.edu 37 8 124664033 124664033 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:124664033G>T uc003yqs.1 - 1 1158 c.1134C>A c.(1132-1134)AGC>AGA p.S378R NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 378 Kelch 2. 0 TATGGGCAGTGCTTCTGTGGG 0.552 NA 6 34 8.12818e-05 0.000254784 0.00198382 1 0 PHF20L1 51105 broad.mit.edu 37 8 133837560 133837560 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr8:133837560A>T uc003ytt.2 + 14 2013 c.1688A>T c.(1687-1689)CAC>CTC p.H563L PHF20L1_uc003yts.2_3'UTR|PHF20L1_uc011lja.1_Missense_Mutation_p.H537L|PHF20L1_uc003ytu.1_RNA NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 563 Lys-rich. nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) gacaaagaTCACTACAGACCA 0.209 NA 7 23 0 0 0.00198382 0 0 TEK 7010 broad.mit.edu 37 9 27185554 27185554 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:27185554C>A uc003zqi.3 + 9 1696 c.1254C>A c.(1252-1254)GAC>GAA p.D418E TEK_uc011lno.1_Missense_Mutation_p.D375E|TEK_uc011lnp.1_Missense_Mutation_p.D271E|TEK_uc003zqj.1_Missense_Mutation_p.D352E NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 418 Extracellular (Potential).|Ig-like C2-type 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCCCCCCTGACTCAGGAGTTT 0.428 NA 18 63 1.15919e-05 3.80112e-05 0.00121646 1 0 DDX58 23586 broad.mit.edu 37 9 32500928 32500928 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:32500928T>A uc003zra.2 - 2 274 c.116A>T c.(115-117)CAG>CTG p.Q39L DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) CTGAATATACTGCACCTCTTC 0.443 NA 17 72 0 0 0.000958276 0 0 TAF1L 138474 broad.mit.edu 37 9 32630111 32630112 + Missense_Mutation DNP CA CA AT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:32630111_32630112CA>AT uc003zrg.1 - 1 5556_5557 c.5466_5467TG>AT c.(5464-5469)GATGGG>GAATGG p.1822_1823DG>EW NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1822_1823 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) TTTCCGTGCCCATCCTTGTGTT 0.495 NA 6 31 0 0 6.4e-05 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745609 37745609 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:37745609C>A uc004aag.1 + 16 3624 c.3580C>A c.(3580-3582)CAG>AAG p.Q1194K FRMPD1_uc004aah.1_Missense_Mutation_p.Q1194K NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1194 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GCAAGGCTGCCAGGCTCAAGA 0.522 NA 7 61 5.18039e-06 1.7629e-05 0.00307968 1 0 TRPM6 140803 broad.mit.edu 37 9 77357520 77357520 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:77357520C>A uc004ajl.1 - 33 5395 c.5157G>T c.(5155-5157)ATG>ATT p.M1719I TRPM6_uc004ajk.1_Missense_Mutation_p.M1714I|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.M670I|TRPM6_uc010mpd.1_Missense_Mutation_p.M552I|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.M675I NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1719 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GAGAAAGCCTCATTAAATTAT 0.373 NA 10 39 2.27111e-07 8.27027e-07 0.00136819 1 0 PSAT1 29968 broad.mit.edu 37 9 80916926 80916926 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:80916926G>T uc004ala.2 + 3 246 c.178G>T c.(178-180)GTG>TTG p.V60L PSAT1_uc004alb.2_Missense_Mutation_p.V60L NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 60 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) AGAGAATCTTGTGCGGGAATT 0.328 Colon(34;187 791 10662 18313 37609) NA 15 34 6.31663e-08 2.36392e-07 0.00316338 1 0 FLJ46321 389763 broad.mit.edu 37 9 84605877 84605877 + Silent SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:84605877T>A uc004amn.2 + 4 539 c.492T>A c.(490-492)TCT>TCA p.S164S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 164 integral to membrane 0 CTTCGGCTTCTGCGACTGAGT 0.572 NA 7 47 0 0 0.00198382 0 0 Unknown 0 broad.mit.edu 37 9 90746020 90746020 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:90746020C>A uc011lti.1 - 4 1961 c.1932G>T c.(1930-1932)CAG>CAT p.Q644H SubName: Full=cDNA FLJ59639; NA CTCCCAGCACCTGCTGAGTAC 0.537 NA 22 85 1.10923e-09 4.47335e-09 0.00278032 1 0 TEX10 54881 broad.mit.edu 37 9 103092397 103092397 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:103092397T>A uc004bas.2 - 6 1520 c.1305A>T c.(1303-1305)TTA>TTT p.L435F TEX10_uc011lvf.1_Missense_Mutation_p.L274F|TEX10_uc011lvg.1_Missense_Mutation_p.L438F|TEX10_uc011lvh.1_Missense_Mutation_p.L370F NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 435 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CAGACAGTGTTAAATTCAGTA 0.388 NA 39 133 0 0 0.00148497 0 0 CYLC2 1539 broad.mit.edu 37 9 105767379 105767379 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:105767379G>A uc004bbs.2 + 5 536 c.466G>A c.(466-468)GAT>AAT p.D156N NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 156 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) agaaaagctagatgcaaagaa 0.07 NA 5 28 0 0 0.000602214 0 0 OR13C4 138804 broad.mit.edu 37 9 107289036 107289037 + Missense_Mutation DNP CC CC AA TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:107289036_107289037CC>AA uc011lvn.1 - 1 454_455 c.454_455GG>TT c.(454-456)GGT>TTT p.G152F NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATTGATTCCACCAGAAAGCCAT 0.426 NA 18 99 0 0 6.4e-05 0 0 ABCA1 19 broad.mit.edu 37 9 107595033 107595033 + Missense_Mutation SNP T T C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:107595033T>C uc004bcl.2 - 12 1644 c.1331A>G c.(1330-1332)GAC>GGC p.D444G NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 444 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTGGTCATTGTCCCTGCTGTC 0.418 NA 12 48 0 0 0.00316338 0 0 ASTN2 23245 broad.mit.edu 37 9 120053783 120053783 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:120053783C>A uc004bjs.1 - 2 553 c.452G>T c.(451-453)GGC>GTC p.G151V ASTN2_uc004bjr.1_Missense_Mutation_p.G151V|ASTN2_uc004bjt.1_Missense_Mutation_p.G151V NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 151 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGCTGCTGTGCCAGACATCTC 0.602 NA 5 29 0.000602214 0.00178811 0.000602214 1 0 TLR4 7099 broad.mit.edu 37 9 120470921 120470921 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:120470921C>T uc004bjz.2 + 2 465 c.174C>T c.(172-174)AAC>AAT p.N58N TLR4_uc004bka.2_Silent_p.N18N|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 58 LRR 1.|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 CAACCAAGAACCTGGACCTGA 0.443 NA 20 127 0 0 0.00152264 0 0 OR5C1 392391 broad.mit.edu 37 9 125552135 125552135 + Silent SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:125552135C>A uc011lzd.1 + 1 924 c.924C>A c.(922-924)ACC>ACA p.T308T NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 TCAGGCAGACCTGGAGCCGAT 0.582 NA 8 39 0.000274275 0.00083082 0.00448238 1 0 DNM1 1759 broad.mit.edu 37 9 130984836 130984836 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:130984836C>G uc011mau.1 + 8 1176 c.1089C>G c.(1087-1089)AAC>AAG p.N363K DNM1_uc010mxr.2_Missense_Mutation_p.N363K|DNM1_uc011mat.1_Missense_Mutation_p.N363K NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 363 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 CCCGCATTAACCGAATCTTCC 0.592 GBM(113;146 1575 2722 28670 29921) NA 6 45 0 0 0.00448238 0 0 TBC1D13 54662 broad.mit.edu 37 9 131568291 131568291 + Missense_Mutation SNP A A G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:131568291A>G uc010myj.2 + 10 1195 c.1072A>G c.(1072-1074)ATG>GTG p.M358V TBC1D13_uc010myk.2_Missense_Mutation_p.M233V|TBC1D13_uc010myl.2_Missense_Mutation_p.M177V NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 358 intracellular Rab GTPase activator activity 0 CTGCTGCGCCATGCTCATGTG 0.622 NA 7 21 0 0 0.00198382 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138719314 138719314 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:138719314C>T uc004cgr.3 - 8 1162 c.1162G>A c.(1162-1164)GTG>ATG p.V388M CAMSAP1_uc004cgq.3_Missense_Mutation_p.V278M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V110M NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 388 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GGCAGCTGCACGGGGGGCTGC 0.597 NA 5 18 0 0 0.000602214 0 0 TLR8 51311 broad.mit.edu 37 X 12939365 12939365 + Missense_Mutation SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:12939365A>T uc004cve.2 + 2 2274 c.2206A>T c.(2206-2208)AGT>TGT p.S736C TLR8_uc004cvd.2_Missense_Mutation_p.S754C NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 736 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 TTCTGAAGTCAGTAGTCTGAA 0.413 NA 15 127 0 0 0.00316338 0 0 SMS 6611 broad.mit.edu 37 X 21996187 21996187 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:21996187G>T uc004dag.2 + 6 716 c.615G>T c.(613-615)TTG>TTT p.L205F SMS_uc011mjq.1_Missense_Mutation_p.L109F|SMS_uc004daf.1_Missense_Mutation_p.L152F|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 205 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) GAGGCATATTGTGTGAAATAG 0.428 NA 15 59 6.31663e-08 2.36392e-07 0.00316338 1 0 FAM47A 158724 broad.mit.edu 37 X 34149860 34149860 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:34149860G>T uc004ddg.2 - 1 569 c.536C>A c.(535-537)CCT>CAT p.P179H NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 179 Pro-rich. ovary(4)|central_nervous_system(1) 5 ATGTTTACCAGGCTCAGTGGG 0.577 NA 5 24 1.6384e-10 6.76905e-10 0.00198382 1 0 FAM47C 442444 broad.mit.edu 37 X 37028698 37028698 + Missense_Mutation SNP C C T rs144392292 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:37028698C>T uc004ddl.1 + 1 2229 c.2215C>T c.(2215-2217)CGC>TGC p.R739C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 739 ovary(3) 3 GTCCCATCTCCGCCCAGAGCC 0.637 NA 12 41 0 0 0.00185496 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40458862 40458862 + Silent SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:40458862C>T uc004det.2 + 7 709 c.607C>T c.(607-609)CTA>TTA p.L203L ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Silent_p.L127L|ATP6AP2_uc011mkm.1_Silent_p.L171L|ATP6AP2_uc011mkn.1_Silent_p.L125L|ATP6AP2_uc004deu.1_Silent_p.L68L NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 203 Extracellular (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 TCATAAGCATCTAGCCAAGGA 0.408 NA 6 71 0 0 0.00307968 0 0 PHF16 9767 broad.mit.edu 37 X 46917717 46917717 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:46917717C>G uc004dgx.2 + 11 1761 c.1710C>G c.(1708-1710)AGC>AGG p.S570R PHF16_uc004dgy.2_Missense_Mutation_p.S570R NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 570 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 CTGACAGCAGCTCATCTGTTC 0.458 NA 8 53 0 0 0.000442599 0 0 XAGE5 170627 broad.mit.edu 37 X 52844149 52844149 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:52844149C>A uc004drd.1 + 4 277 c.212C>A c.(211-213)TCT>TAT p.S71Y NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 71 ovary(1) 1 CAGGAGCTGTCTCAGTCAAAG 0.443 NA 10 44 0.000442599 0.0013229 0.000442599 1 0 KLF8 11279 broad.mit.edu 37 X 56296679 56296679 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:56296679C>A uc004dur.2 + 5 1769 c.823C>A c.(823-825)CAA>AAA p.Q275K KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 275 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACGGATTCACCAATGTGACTT 0.493 NA 8 53 1.12685e-05 3.70408e-05 0.00448238 1 0 ZXDB 158586 broad.mit.edu 37 X 57620764 57620764 + Silent SNP A A T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:57620764A>T uc004dvd.2 + 1 2496 c.2283A>T c.(2281-2283)GTA>GTT p.V761V NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGTGGAACGTACATCCTGACT 0.473 NA 11 83 0 0 0.000673444 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722958 64722958 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:64722958C>G uc010nko.2 + 5 2356 c.2347C>G c.(2347-2349)CAG>GAG p.Q783E NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 783 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 ACACCAGTATCAGACCTACAA 0.498 NA 5 45 0 0 0.000602214 0 0 EDA 1896 broad.mit.edu 37 X 69255360 69255360 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:69255360G>T uc004dxs.2 + 8 1319 c.1077G>T c.(1075-1077)AAG>AAT p.K359N EDA_uc004dxr.2_Missense_Mutation_p.K357N|EDA_uc011mpj.1_Missense_Mutation_p.K354N NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 359 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 CCCGGCAGAAGATCGCCGTCA 0.577 NA 7 39 8.12818e-05 0.000254784 0.00198382 1 0 TEX11 56159 broad.mit.edu 37 X 69774579 69774579 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:69774579C>A uc004dyl.2 - 27 2419 c.2257G>T c.(2257-2259)GAT>TAT p.D753Y TEX11_uc004dyk.2_Missense_Mutation_p.D428Y|TEX11_uc004dym.2_Missense_Mutation_p.D738Y NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 753 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) AGTAATGGATCATTCAATTTG 0.363 NA 17 44 9.16793e-09 3.56942e-08 0.000566183 1 0 ZMYM3 9203 broad.mit.edu 37 X 70465222 70465222 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:70465222G>C uc004dzh.1 - 18 3061 c.2974C>G c.(2974-2976)CCT>GCT p.P992A BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.P992A|ZMYM3_uc004dzj.1_Missense_Mutation_p.P980A NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 992 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TCTTGCCCAGGCTCATCCAAG 0.547 NA 4 25 0 0 0.00024832 0 0 PHKA1 5255 broad.mit.edu 37 X 71840645 71840645 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:71840645G>C uc004eax.3 - 19 2368 c.2067C>G c.(2065-2067)TTC>TTG p.F689L PHKA1_uc004eay.3_Missense_Mutation_p.F689L|PHKA1_uc011mqi.1_Intron NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 689 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) CAGCAGCTTGGAACCGATCTA 0.512 NA 5 33 0 0 0.000602214 0 0 ATRX 546 broad.mit.edu 37 X 76845317 76845317 + Silent SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:76845317G>C uc004ecp.3 - 27 6436 c.6204C>G c.(6202-6204)CCC>CCG p.P2068P ATRX_uc004ecq.3_Silent_p.P2030P|ATRX_uc004eco.3_Silent_p.P1853P NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2068 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TATAAATAAGGGGTTTATCTT 0.308 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 5 40 0 0 0.00116845 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912566 77912567 + Missense_Mutation DNP GG GG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:77912566_77912567GG>TT uc004edc.1 - 2 1647_1648 c.1351_1352CC>AA c.(1351-1353)CCT>AAT p.P451N NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 451 CCHC-type. nucleic acid binding|zinc ion binding ovary(1) 1 AAAATGACCAGGATAACCACAG 0.554 NA 5 22 0 0 6.4e-05 0 0 TBX22 50945 broad.mit.edu 37 X 79279561 79279562 + Splice_Site DNP GG GG TT TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:79279561_79279562GG>TT uc010nmg.1 + 4 491 c.357_splice c.e4-1 p.R119_splice TBX22_uc004edi.1_Splice_Site|TBX22_uc004edj.1_Splice_Site_p.R119_splice NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CTTTCTTACAGGCGGATGTTCC 0.48 NA 7 61 0 0 6.4e-05 0 0 BRWD3 254065 broad.mit.edu 37 X 79978262 79978262 + Missense_Mutation SNP T T A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:79978262T>A uc004edt.2 - 17 1938 c.1675A>T c.(1675-1677)ACG>TCG p.T559S BRWD3_uc004edo.2_Missense_Mutation_p.T155S|BRWD3_uc004edp.2_Missense_Mutation_p.T388S|BRWD3_uc004edq.2_Missense_Mutation_p.T155S|BRWD3_uc010nmj.1_Missense_Mutation_p.T155S|BRWD3_uc004edr.2_Missense_Mutation_p.T229S|BRWD3_uc004eds.2_Missense_Mutation_p.T155S|BRWD3_uc004edu.2_Missense_Mutation_p.T229S|BRWD3_uc004edv.2_Missense_Mutation_p.T155S|BRWD3_uc004edw.2_Missense_Mutation_p.T155S|BRWD3_uc004edx.2_Missense_Mutation_p.T155S|BRWD3_uc004edy.2_Missense_Mutation_p.T155S|BRWD3_uc004edz.2_Missense_Mutation_p.T229S|BRWD3_uc004eea.2_Missense_Mutation_p.T229S|BRWD3_uc004eeb.2_Missense_Mutation_p.T155S NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 559 ovary(4) 4 CGATAATCCGTGTGGAAGAAC 0.388 NA 26 68 0 0 0.00127121 0 0 SATL1 340562 broad.mit.edu 37 X 84363384 84363384 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:84363384G>A uc011mqx.1 - 1 591 c.591C>T c.(589-591)GGC>GGT p.G197G SATL1_uc004een.2_Silent_p.G197G NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 10 Gln-rich. N-acetyltransferase activity breast(2) 2 GTTGTTGCACGCCTGGTTGCC 0.572 NA 19 75 0 0 0.000958276 0 0 SEPT6 23157 broad.mit.edu 37 X 118767439 118767439 + Missense_Mutation SNP C C T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:118767439C>T uc004erv.2 - 8 1238 c.973G>A c.(973-975)GAG>AAG p.E325K SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.E325K|SEPT6_uc004ert.2_Missense_Mutation_p.E325K|SEPT6_uc004eru.2_Missense_Mutation_p.E325K|SEPT6_uc004erw.2_Missense_Mutation_p.E267K|SEPT6_uc011mtv.1_Missense_Mutation_p.E267K|SEPT6_uc011mtw.1_Missense_Mutation_p.E355K NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 325 Potential. cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 CTTTTGGCCTCATATGTCTCC 0.448 NA 62 119 0 0 0.00361006 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795247 142795247 + Missense_Mutation SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:142795247G>T uc004fbz.2 - 2 1185 c.431C>A c.(430-432)TCT>TAT p.S144Y NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 144 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGATCCTTCAGATGAGTCCAG 0.522 NA 72 176 5.0909e-33 2.5954e-32 0.00361006 1 0 AFF2 2334 broad.mit.edu 37 X 147744018 147744018 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:147744018C>G uc004fcp.2 + 3 1249 c.770C>G c.(769-771)TCT>TGT p.S257C AFF2_uc004fco.2_Missense_Mutation_p.S253C|AFF2_uc004fcq.2_Missense_Mutation_p.S253C|AFF2_uc004fcr.2_Missense_Mutation_p.S253C|AFF2_uc011mxb.1_Missense_Mutation_p.S257C|AFF2_uc004fcs.2_Missense_Mutation_p.S253C NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 257 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GTGGCTTCCTCTTTATTAGCT 0.478 NA 7 138 0 0 0.00198382 0 0 CNGA2 1260 broad.mit.edu 37 X 150911608 150911608 + Silent SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chrX:150911608G>A uc004fey.1 + 7 857 c.633G>A c.(631-633)CTG>CTA p.L211L NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 211 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCAAGAAACTGCGAGACAACT 0.488 NA 10 34 0 0 0.000673444 0 0 ACADM 34 broad.mit.edu 37 1 76211563 76211563 + Frame_Shift_Del DEL G G - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:76211563delG uc001dgw.3 + 8 1102 c.672delG c.(670-672)GTGfs p.V224fs ACADM_uc010ord.1_Frame_Shift_Del_p.V138fs|ACADM_uc009wbp.2_Frame_Shift_Del_p.V228fs|ACADM_uc009wbr.2_Frame_Shift_Del_p.V257fs|ACADM_uc010ore.1_Frame_Shift_Del_p.V188fs|ACADM_uc010orf.1_Frame_Shift_Del_p.V35fs|ACADM_uc001dgx.3_Frame_Shift_Del_p.V138fs|ACADM_uc010org.1_Frame_Shift_Del_p.V94fs|ACADM_uc009wbs.1_RNA NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 224 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 GATTCATTGTGGAAGCAGATA 0.343 NA 13 97 --- --- --- --- NA NA NA NA NA RBM34 23029 broad.mit.edu 37 1 235324345 235324345 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:235324345delC uc001hwn.2 - 2 121 c.91delG c.(91-93)GAAfs p.E31fs RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Frame_Shift_Del_p.E31fs NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 31 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CTGTAGTCTTCCGGCGGACTC 0.607 NA 12 18 --- --- --- --- NA NA NA NA NA OR2B11 127623 broad.mit.edu 37 1 247614468 247614468 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr1:247614468delC uc010pyx.1 - 1 817 c.817delG c.(817-819)GAGfs p.E273fs NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 273 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TTGCCCTGCTCTTGGGAGTAG 0.493 NA 17 126 --- --- --- --- NA NA NA NA NA MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 CTCCTA CTCCTA - - CTCCTA CTCCTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:12316384_12316389delCTCCTA uc001mkg.1 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)CCTCCTACA>CCA p.PT470del NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 470_471 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.432 NA 4 2 --- --- --- --- NA NA NA NA NA OR5D14 219436 broad.mit.edu 37 11 55563619 55563619 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr11:55563619delC uc010rim.1 + 1 588 c.588delC c.(586-588)ATCfs p.I196fs NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ATATACTCATCCCCCACCTGC 0.418 NA 19 181 --- --- --- --- NA NA NA NA NA PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr13:25671273delG uc001upy.2 + 1 998 c.937delG c.(937-939)GCGfs p.A313fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 NA 7 292 --- --- --- --- NA NA NA NA NA NID2 22795 broad.mit.edu 37 14 52526841 52526841 + Splice_Site DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr14:52526841delC uc001wzo.2 - 3 1001 c.767_splice c.e3+1 p.Q256_splice NID2_uc010tqs.1_Splice_Site_p.Q256_splice|NID2_uc010tqt.1_Splice_Site_p.Q256_splice|NID2_uc001wzp.2_Splice_Site_p.Q256_splice NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor basement membrane calcium ion binding|collagen binding p.?(1) pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) ATGTTACTTACTGATAGAGAT 0.418 NA 7 35 --- --- --- --- NA NA NA NA NA KIF2B 84643 broad.mit.edu 37 17 51901016 51901016 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr17:51901016delC uc002iua.2 + 1 778 c.622delC c.(622-624)CCCfs p.P208fs uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 208 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 AGTCCTGGAGCCCCCGCAAGA 0.552 NA 8 26 --- --- --- --- NA NA NA NA NA CARD8 22900 broad.mit.edu 37 19 48733883 48733883 + Frame_Shift_Del DEL G G - rs148180647 TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr19:48733883delG uc002pie.3 - 6 842 c.529delC c.(529-531)CGGfs p.R177fs CARD8_uc002pii.3_Frame_Shift_Del_p.R283fs|CARD8_uc010xzi.1_Frame_Shift_Del_p.R178fs|CARD8_uc010els.2_Frame_Shift_Del_p.R216fs|CARD8_uc010xzj.1_Frame_Shift_Del_p.R283fs|CARD8_uc010xzk.1_Frame_Shift_Del_p.R202fs|CARD8_uc002pif.3_Frame_Shift_Del_p.R177fs|CARD8_uc002pig.3_Frame_Shift_Del_p.R8fs|CARD8_uc002pih.3_Frame_Shift_Del_p.R233fs|CARD8_uc010xzl.1_Frame_Shift_Del_p.R233fs|CARD8_uc010xzm.1_Frame_Shift_Del_p.R283fs NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 177 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) GGCTCCACCCGGGCTGGATGC 0.577 NA 11 75 --- --- --- --- NA NA NA NA NA LRP2 4036 broad.mit.edu 37 2 170134449 170134450 + Frame_Shift_Ins INS - - A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr2:170134449_170134450insA uc002ues.2 - 13 1790_1791 c.1577_1578insT c.(1576-1578)TTCfs p.F526fs LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 526 LDL-receptor class B 3.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCCAATCTGAGAAAAATAAATA 0.391 NA 16 73 --- --- --- --- NA NA NA NA NA TMPRSS15 5651 broad.mit.edu 37 21 19770237 19770238 + Frame_Shift_Ins INS - - T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr21:19770237_19770238insT uc002ykw.2 - 3 333_334 c.302_303insA c.(301-303)AATfs p.N101fs NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 101 Extracellular (Potential).|SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CATTCTTCAGATTGCTTGATAG 0.243 NA 7 28 --- --- --- --- NA NA NA NA NA TBC1D2 55357 broad.mit.edu 37 9 100971254 100971254 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dc05a31-557a-4026-af11-f2dfdb91d5f3 5eea1eb3-ae16-4285-a8cb-d71ebfaa362b g.chr9:100971254delC uc011lvb.1 - 9 2026 c.1846delG c.(1846-1848)GCCfs p.A616fs TBC1D2_uc004ayp.2_Frame_Shift_Del_p.A156fs|TBC1D2_uc004ayq.2_Frame_Shift_Del_p.A616fs|TBC1D2_uc004ayr.2_Frame_Shift_Del_p.A398fs|TBC1D2_uc004ayo.3_Frame_Shift_Del_p.A616fs NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 616 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TTGAGCTCGGCTGAGGGCACA 0.672 NA 7 42 --- --- --- --- NA NA NA NA NA