Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CDK11B 984 broad.mit.edu 37 1 1572548 1572548 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:1572548C>G uc001agv.1 - 19 1698 c.1587G>C c.(1585-1587)CTG>CTC p.L529L CDK11B_uc009vkj.2_Silent_p.L186L|CDK11B_uc001ags.1_Silent_p.L387L|CDK11B_uc001agt.1_Silent_p.L312L|CDK11B_uc001aha.1_Silent_p.L495L|CDK11B_uc001agw.1_Silent_p.L484L|CDK11B_uc001agy.1_Silent_p.L527L|CDK11B_uc001agx.1_Silent_p.L518L|CDK11B_uc001agz.1_Silent_p.L273L NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 542 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 GCTGGATCATCAGGGTCTTCA 0.652 NaN 0 0 0 1 0 6 88 CDK11A 728642 broad.mit.edu 37 1 1635767 1635767 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:1635767C>G uc009vks.2 - 15 1689 c.1581G>C c.(1579-1581)CTG>CTC p.L527L CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.L34L|CDK11A_uc009vkp.2_Silent_p.L144L|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.L517L|CDK11A_uc010nys.1_3'UTR NM_024011 NP_076916 Q9UQ88 CD11A_HUMAN cell division cycle 2-like 2 isoform 1 530 Protein kinase. apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 GCTGGATCATCAGGGTCTTCA 0.672 NaN 0 0 0 1 0 10 36 MEGF6 1953 broad.mit.edu 37 1 3511904 3511904 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:3511904G>C uc001akl.2 - 3 601 c.374C>G c.(373-375)TCG>TGG p.S125W NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 125 EGF-like 1.|EMI. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCACTCACCCGAGAGGCAGCC 0.682 NaN 0 0 0 1 0 40 39 KIF1B 23095 broad.mit.edu 37 1 10342591 10342591 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:10342591G>A uc001aqx.3 + 15 1636 c.1434G>A c.(1432-1434)AAG>AAA p.K478K KIF1B_uc001aqv.3_Silent_p.K432K|KIF1B_uc001aqw.3_Silent_p.K432K|KIF1B_uc001aqy.2_Silent_p.K452K|KIF1B_uc001aqz.2_Silent_p.K478K|KIF1B_uc001ara.2_Silent_p.K438K|KIF1B_uc001arb.2_Silent_p.K464K NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 478 Potential. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AACGTTTAAAGGTAAGTAATA 0.294 NaN 0 0 0 1 0 41 89 FBXO2 26232 broad.mit.edu 37 1 11708844 11708844 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:11708844G>A uc001asj.2 - 6 1140 c.798C>T c.(796-798)TTC>TTT p.F266F FBXO2_uc009vna.2_Silent_p.F269F NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 266 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGAAGCGGACGAAGCGGACGC 0.677 NaN 0 0 0 1 0 137 103 VPS13D 55187 broad.mit.edu 37 1 12337497 12337497 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:12337497C>G uc001atv.2 + 19 3993 c.3852C>G c.(3850-3852)CTC>CTG p.L1284L VPS13D_uc001atw.2_Silent_p.L1284L|VPS13D_uc001atx.2_Silent_p.L472L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1284 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGTGTTTTCTCAACCTGAAGA 0.398 NaN 0 0 0 1 0 125 134 UBR4 23352 broad.mit.edu 37 1 19477120 19477120 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:19477120C>T uc001bbi.2 - 49 7385 c.7381G>A c.(7381-7383)GAT>AAT p.D2461N UBR4_uc001bbk.1_Missense_Mutation_p.D115N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2461 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GAGTCGCTATCTCCAGTGCCG 0.547 NaN 0 0 0 1 0 203 205 LDLRAD2 401944 broad.mit.edu 37 1 22141309 22141309 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:22141309C>T uc001bfg.1 + 2 691 c.504C>T c.(502-504)TTC>TTT p.F168F NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain 168 Extracellular (Potential). integral to membrane receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) TCACCTCTTTCCGTCTGGGTG 0.711 NaN 0 0 0 1 0 8 9 C1orf213 148898 broad.mit.edu 37 1 23695890 23695890 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:23695890C>T uc001bgw.2 + 1 427 c.100C>T c.(100-102)CGT>TGT p.R34C ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Missense_Mutation_p.R34C NM_138479 NP_612488 hypothetical protein LOC148898 isoform 1 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ACTAGATCGTCGTCTCCAAAA 0.572 NaN 0 0 0 1 0 34 47 ARID1A 8289 broad.mit.edu 37 1 27106492 27106492 + Nonsense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:27106492G>T uc001bmv.1 + 20 6476 c.6103G>T c.(6103-6105)GAG>TAG p.E2035* ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1818*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E881*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E363*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E277* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2035 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGAAAAGGAGGAGGAACAGGA 0.557 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 1 0 2.47907e-22 1 2.60217e-22 54 100 SFN 2810 broad.mit.edu 37 1 27189727 27189727 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:27189727G>A uc001bnc.1 + 1 95 c.24G>A c.(22-24)CAG>CAA p.Q8Q NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 8 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GTCTGATCCAGAAGGCCAAGC 0.627 NaN 0 0 0 1 0 76 85 SDC3 9672 broad.mit.edu 37 1 31347175 31347175 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:31347175C>T uc001bse.2 - 4 1178 c.1131G>A c.(1129-1131)AAG>AAA p.K377K SDC3_uc001bsd.2_Silent_p.K319K NM_014654 NP_055469 O75056 SDC3_HUMAN syndecan 3 377 Extracellular (Potential). integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGATACTCTTCTGAGGCA 0.652 NaN 0 0 0 1 0 38 46 TMEM54 113452 broad.mit.edu 37 1 33363913 33363913 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:33363913C>G uc001bwi.1 - 2 138 c.24G>C c.(22-24)CTG>CTC p.L8L TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 8 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CGCCCACACTCAGGCCTCCTG 0.617 NaN 0 0 0 1 0 44 55 CSMD2 114784 broad.mit.edu 37 1 33987087 33987087 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:33987087C>G uc001bxn.1 - 67 10170 c.10141G>C c.(10141-10143)GGG>CGG p.G3381R CSMD2_uc001bxm.1_Missense_Mutation_p.G3525R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3381 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCGAACTGCCCAAAGCCTTGG 0.602 NaN 0 0 0 1 0 37 69 ZMYM6 9204 broad.mit.edu 37 1 35485180 35485180 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:35485180G>A uc001byh.2 - 4 430 c.202C>T c.(202-204)CAG>TAG p.Q68* ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc010oht.1_5'UTR|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byi.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byk.2_Nonsense_Mutation_p.Q68* NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 68 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AAAGAAAGCTGAAAGCCTGGG 0.368 NaN 0 0 0 1 0 22 39 CLSPN 63967 broad.mit.edu 37 1 36211080 36211080 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:36211080G>C uc001bzi.2 - 16 3018 c.2938C>G c.(2938-2940)CTT>GTT p.L980V CLSPN_uc009vux.2_Missense_Mutation_p.L916V NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 980 CKB motif 3. activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCTGAGCAAAGAGCAAGTGCT 0.438 NaN 0 0 0 1 0 30 42 MANEAL 149175 broad.mit.edu 37 1 38265658 38265658 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:38265658C>T uc001cby.2 + 4 1238 c.1157C>T c.(1156-1158)ACG>ATG p.T386M MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.T164M NM_001113482 NP_001106954 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like isoform 3 386 Lumenal (Potential). Golgi membrane|integral to membrane hydrolase activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TACTATGAGACGGCCCTGCAG 0.567 NaN 0 0 0 1 0 47 60 TESK2 10420 broad.mit.edu 37 1 45811074 45811074 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:45811074G>C uc001cns.1 - 11 1557 c.1154C>G c.(1153-1155)CCA>CGA p.P385R TESK2_uc009vxr.1_Missense_Mutation_p.P356R|TESK2_uc010olo.1_Missense_Mutation_p.P302R|TESK2_uc009vxs.1_Missense_Mutation_p.P177R NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 385 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) CCGGTAGTATGGGTCCAAGAC 0.557 NaN 0 0 0 1 0 55 48 IPP 3652 broad.mit.edu 37 1 46212053 46212053 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:46212053C>T uc001cou.2 - 2 298 c.31G>A c.(31-33)GAT>AAT p.D11N IPP_uc001cos.3_Missense_Mutation_p.D11N NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 11 actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AAAGGACTATCAGCAGCCTTG 0.408 NaN 0 0 0 1 0 48 118 LRRC41 10489 broad.mit.edu 37 1 46751935 46751935 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:46751935G>C uc001cpn.2 - 4 638 c.594C>G c.(592-594)CTC>CTG p.L198L LRRC41_uc010omb.1_Silent_p.L198L|LRRC41_uc001cpo.1_Silent_p.L198L NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 198 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) GGCGGAACTTGAGAGTGTGCA 0.592 NaN 0 0 0 1 0 40 45 HOOK1 51361 broad.mit.edu 37 1 60297859 60297859 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:60297859C>T uc009wad.2 + 5 349 c.247C>T c.(247-249)CAA>TAA p.Q83* HOOK1_uc001czo.2_Nonsense_Mutation_p.Q83*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.Q41* NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 83 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) GAAGGTCCTTCAAGGAATTAT 0.289 NaN 0 0 0 1 0 56 85 IFI44L 10964 broad.mit.edu 37 1 79093672 79093672 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:79093672G>C uc010oro.1 + 2 251 c.72G>C c.(70-72)TTG>TTC p.L24F IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 24 cytoplasm 0 ATGTTTCTTTGAGTCTTCTCT 0.363 NaN 0 0 0 1 0 32 24 SEP15 9403 broad.mit.edu 37 1 87379771 87379771 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:87379771C>G uc010osi.1 - 1 337 c.24G>C c.(22-24)CCG>CCC p.P8P HS2ST1_uc001dmc.3_5'Flank|HS2ST1_uc010osk.1_5'Flank|SEP15_uc010osj.1_Silent_p.P8P NM_004261 NP_004252 O60613 SEP15_HUMAN 15 kDa selenoprotein isoform 1 precursor 5 'de novo' posttranslational protein folding endoplasmic reticulum lumen selenium binding 0 Lung NSC(277;0.153) all cancers(265;0.00744)|Epithelial(280;0.0333) GACACCCACTCGGCCCAGCCG 0.587 NaN 0 0 0 1 0 53 74 LRRC8C 84230 broad.mit.edu 37 1 90179371 90179371 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:90179371G>A uc001dnl.3 + 3 1484 c.1242G>A c.(1240-1242)CTG>CTA p.L414L NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 414 LRR 1. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTGATAAACTGAGGCAGAAGC 0.413 NaN 0 0 0 1 0 41 53 SNX7 51375 broad.mit.edu 37 1 99150470 99150470 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:99150470C>G uc010ouc.1 + 2 262 c.210C>G c.(208-210)TTC>TTG p.F70L SNX7_uc001dsa.2_Missense_Mutation_p.F6L|SNX7_uc010oud.1_Missense_Mutation_p.F70L NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 6 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TGAACTCCTTCAGCCCTATGA 0.338 NaN 0 0 0 1 0 50 85 FAM40A 85369 broad.mit.edu 37 1 110591786 110591786 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:110591786G>C uc001dza.1 + 16 1733 c.1714G>C c.(1714-1716)GAG>CAG p.E572Q FAM40A_uc001dyz.1_Missense_Mutation_p.E477Q|FAM40A_uc009wfp.1_Missense_Mutation_p.E396Q NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 572 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) CCGCCACAAAGAGGTCATTGT 0.522 NaN 0 0 0 1 0 30 50 FAM40A 85369 broad.mit.edu 37 1 110592108 110592108 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:110592108G>A uc001dza.1 + 17 1834 c.1815G>A c.(1813-1815)GTG>GTA p.V605V FAM40A_uc001dyz.1_Silent_p.V510V|FAM40A_uc009wfp.1_Silent_p.V429V NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 605 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) AGCACCTGGTGTTTGCCAACT 0.473 NaN 0 0 0 1 0 57 72 PPM1J 333926 broad.mit.edu 37 1 113253221 113253221 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:113253221C>G uc001ect.1 - 9 1258 c.1231G>C c.(1231-1233)GAC>CAC p.D411H PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.D205H NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN protein phosphatase 1J (PP2C domain containing) 411 PP2C-like. breast(2)|central_nervous_system(1) 3 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTGTCAGGTCATACACTCGT 0.532 NaN 0 0 0 1 0 90 125 OLFML3 56944 broad.mit.edu 37 1 114523069 114523069 + Missense_Mutation SNP G G C rs144544470 by1000genomes TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:114523069G>C uc001eer.1 + 2 339 c.230G>C c.(229-231)AGA>ACA p.R77T OLFML3_uc001ees.1_Missense_Mutation_p.R57T|OLFML3_uc001eet.1_5'UTR NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 precursor 77 Potential. multicellular organismal development extracellular region 0 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGCACTCAGAACTGAGGCC 0.587 NaN 0 0 0 1 0 40 71 TRIM45 80263 broad.mit.edu 37 1 117656050 117656050 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:117656050G>A uc001egz.2 - 5 2113 c.1525C>T c.(1525-1527)CAC>TAC p.H509Y TRIM45_uc009whe.2_Missense_Mutation_p.H491Y|TRIM45_uc001eha.2_Missense_Mutation_p.H405Y NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 509 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GTGCAGCAGTGAAACACGCCT 0.572 NaN 0 0 0 1 0 48 39 FAM72D 728833 broad.mit.edu 37 1 143912363 143912363 + Translation_Start_Site SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:143912363G>C uc002qvn.1 - 1 781 c.-67C>G c.(-69--65)ATCAA>ATGAA FAM72D_uc010evy.1_Translation_Start_Site NM_207418 NP_997301 Q6L9T8 FA72D_HUMAN hypothetical protein LOC653573 0 CTACTATTTTGATTCCCCTAG 0.418 NaN 0 0 0 1 0 41 80 PDE4DIP 9659 broad.mit.edu 37 1 144882814 144882814 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:144882814C>T uc001elw.3 - 24 3496 c.3205G>A c.(3205-3207)GAT>AAT p.D1069N NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D1135N|PDE4DIP_uc001elv.3_Missense_Mutation_p.D76N NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1069 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCCATCCATCAGACATTGCT 0.512 NaN T PDGFRB MPD 0 0 0 1 0 116 494 PDE4DIP 9659 broad.mit.edu 37 1 145075664 145075664 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:145075664C>A uc001emh.2 - 1 416 c.199G>T c.(199-201)GAA>TAA p.E67* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Nonsense_Mutation_p.E67*|PDE4DIP_uc001emk.2_Nonsense_Mutation_p.E67* NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTGCTTCTTCCTCCTCGGCC 0.721 NaN T PDGFRB MPD 1 0 6.05902e-23 1 6.3708e-23 25 208 NOTCH2NL 388677 broad.mit.edu 37 1 145281491 145281491 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:145281491G>A uc001emn.3 + 4 791 c.421G>A c.(421-423)GAG>AAG p.E141K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.E141K|NOTCH2NL_uc001emo.2_Missense_Mutation_p.E141K|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 141 EGF-like 4. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GCAGAAGTGTGAGACTGATGT 0.552 NaN 0 0 0 1 0 64 553 TXNIP 10628 broad.mit.edu 37 1 145439874 145439874 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:145439874G>C uc001enn.3 + 3 761 c.420G>C c.(418-420)AAG>AAC p.K140N NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.K85N NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 140 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGAGACAAAGAAAAACTTTG 0.438 NaN 0 0 0 1 0 62 68 TXNIP 10628 broad.mit.edu 37 1 145440123 145440123 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:145440123G>A uc001enn.3 + 4 898 c.557G>A c.(556-558)AGA>AAA p.R186K NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R131K NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 186 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGAATTGACAGAAAAGGATTC 0.458 NaN 0 0 0 1 0 101 142 ADAMTSL4 54507 broad.mit.edu 37 1 150532597 150532597 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:150532597C>T uc001eux.2 + 19 3386 c.3150C>T c.(3148-3150)GTC>GTT p.V1050V ADAMTSL4_uc009wlw.2_Silent_p.V1073V|ADAMTSL4_uc010pcg.1_Silent_p.V1011V|ADAMTSL4_uc009wlx.2_Silent_p.V213V NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 1050 PLAC. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGCTCTGCGTCTACCCCTACT 0.622 NaN OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 89 131 SEMA6C 10500 broad.mit.edu 37 1 151111130 151111130 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:151111130G>C uc001ewu.2 - 7 732 c.432C>G c.(430-432)TTC>TTG p.F144L SEMA6C_uc001ewv.2_Missense_Mutation_p.F144L|SEMA6C_uc001eww.2_Missense_Mutation_p.F144L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F144L|SEMA6C_uc009wml.1_RNA NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 144 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACACAGGGCTGAATGAGTTCG 0.527 NaN 0 0 0 1 0 36 53 RFX5 5993 broad.mit.edu 37 1 151316209 151316209 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:151316209G>A uc001exv.1 - 9 919 c.705C>T c.(703-705)CTC>CTT p.L235L RFX5_uc001exw.1_Silent_p.L235L|RFX5_uc009wmr.1_Silent_p.L235L|RFX5_uc010pcx.1_Silent_p.L195L NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 235 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGCAGAGATGAGATGCTGCT 0.582 NaN 0 0 0 1 0 40 66 ASH1L 55870 broad.mit.edu 37 1 155365333 155365333 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:155365333C>T uc009wqq.2 - 7 6500 c.6020G>A c.(6019-6021)CGA>CAA p.R2007Q ASH1L_uc001fkt.2_Missense_Mutation_p.R2007Q NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2007 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTGGATCAATCGACTCTTTGG 0.413 NaN 0 0 0 1 0 28 42 LMNA 4000 broad.mit.edu 37 1 156100507 156100507 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:156100507C>G uc001fni.2 + 2 705 c.456C>G c.(454-456)CTC>CTG p.L152L LMNA_uc001fnf.1_Silent_p.L152L|LMNA_uc001fng.2_Silent_p.L152L|LMNA_uc001fnh.2_Silent_p.L152L|LMNA_uc009wro.1_Silent_p.L152L|LMNA_uc010pgz.1_Silent_p.L40L|LMNA_uc001fnj.2_Silent_p.L71L|LMNA_uc001fnk.2_Silent_p.L53L NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 152 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity|structural molecule activity ovary(2) 2 Hepatocellular(266;0.158) GCACTGCTCTCAGTGAGAAGC 0.637 NaN Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome OREG0013866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 14 19 SMG5 23381 broad.mit.edu 37 1 156230322 156230322 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:156230322G>A uc001foc.3 - 15 2352 c.2203C>T c.(2203-2205)CGT>TGT p.R735C SMG5_uc009wrv.2_Missense_Mutation_p.R220C NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 735 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) GGCAGGTTACGAAGAGCCATG 0.562 NaN 0 0 0 1 0 46 63 NES 10763 broad.mit.edu 37 1 156639156 156639156 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:156639156C>G uc001fpq.2 - 4 4957 c.4824G>C c.(4822-4824)CAG>CAC p.Q1608H NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1608 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCCTTCCCTCTGAGTGAACT 0.617 NaN 0 0 0 1 0 33 59 FCRL3 115352 broad.mit.edu 37 1 157665209 157665209 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:157665209G>A uc001frb.2 - 8 1613 c.1321C>T c.(1321-1323)CTG>TTG p.L441L FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L441L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L167L|FCRL3_uc001frc.1_Silent_p.L441L NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 441 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TCTGCAGTCAGAGAGAGGTTG 0.557 NaN 0 0 0 1 0 90 131 CADM3 57863 broad.mit.edu 37 1 159169587 159169587 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:159169587C>T uc001ftl.2 + 8 1141 c.999C>T c.(997-999)ATC>ATT p.I333I CADM3_uc001ftk.2_Silent_p.I367I|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 333 Helical; (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) ACGCCATCATCGGTGGGATCG 0.542 NaN 0 0 0 1 0 73 75 COPA 1314 broad.mit.edu 37 1 160262955 160262955 + Splice_Site SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:160262955C>T uc009wti.2 - 27 3217 c.2823_splice c.e27+1 p.R941_splice COPA_uc001fvv.3_Splice_Site_p.R950_splice NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGTTACTTACCCGCATGGCT 0.468 NaN 0 0 0 1 0 51 226 CD48 962 broad.mit.edu 37 1 160681499 160681499 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:160681499G>A uc001fwn.2 - 1 87 c.55C>T c.(55-57)CTG>TTG p.L19L CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L NM_001778 NP_001769 P09326 CD48_HUMAN CD48 molecule precursor 19 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding 0 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGGAGTGACAGAGGCAGCAGT 0.532 NaN 0 0 0 1 0 34 57 GPA33 10223 broad.mit.edu 37 1 167038281 167038281 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:167038281G>C uc001gea.1 - 3 637 c.293C>G c.(292-294)TCC>TGC p.S98C NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 98 Ig-like V-type.|Extracellular (Potential). integral to plasma membrane receptor activity 0 GGAGGCATCGGACTGCTCAGC 0.502 NaN 0 0 0 1 0 34 46 CD247 919 broad.mit.edu 37 1 167408587 167408587 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:167408587G>C uc001gei.3 - 3 358 c.213C>G c.(211-213)CTC>CTG p.L71L CD247_uc001gej.3_Silent_p.L71L|CD247_uc001gek.2_Silent_p.L71L NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 71 Cytoplasmic (Potential).|ITAM 1. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) TTACGTTATAGAGCTGGTTCT 0.572 NaN 0 0 0 1 0 53 103 GPR161 23432 broad.mit.edu 37 1 168056841 168056841 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:168056841C>A uc001gfc.2 - 7 1620 c.1306G>T c.(1306-1308)GAA>TAA p.E436* GPR161_uc001gfb.2_Nonsense_Mutation_p.E304*|GPR161_uc010pll.1_Nonsense_Mutation_p.E346*|GPR161_uc010plm.1_Nonsense_Mutation_p.E322*|GPR161_uc009wvo.2_Nonsense_Mutation_p.E453*|GPR161_uc001gfd.2_Nonsense_Mutation_p.E436*|GPR161_uc010pln.1_Nonsense_Mutation_p.E456* NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 436 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) TGTTCCACTTCATCCTCAAAT 0.483 NaN 1 0 1.15365e-47 1 1.23418e-47 95 143 TIPRL 261726 broad.mit.edu 37 1 168165852 168165852 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:168165852G>C uc001gfg.2 + 5 729 c.584G>C c.(583-585)AGA>ACA p.R195T TIPRL_uc001gfh.2_Missense_Mutation_p.R195T NM_152902 NP_690866 O75663 TIPRL_HUMAN TIP41, TOR signalling pathway regulator-like 195 Interaction with PPP2CA. DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding ovary(1) 1 all_hematologic(923;0.215) GTGCTTATCAGAATGAATGAC 0.328 NaN 0 0 0 1 0 65 90 NME7 29922 broad.mit.edu 37 1 169292506 169292506 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:169292506G>A uc001gfu.2 - 3 365 c.127C>T c.(127-129)CAT>TAT p.H43Y NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.H7Y|NME7_uc001gfv.1_Missense_Mutation_p.H43Y NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 43 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) AAGGTGCGATGATTCTTTACA 0.308 NaN 0 0 0 1 0 68 106 SMG7 9887 broad.mit.edu 37 1 183518360 183518360 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:183518360G>T uc001gqg.2 + 18 2882 c.2760G>T c.(2758-2760)AAG>AAT p.K920N SMG7_uc001gqf.2_Missense_Mutation_p.K924N|SMG7_uc001gqh.2_Missense_Mutation_p.K874N|SMG7_uc001gqi.2_Missense_Mutation_p.K832N|SMG7_uc010poc.1_Missense_Mutation_p.K928N NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 920 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TATTGGAGAAGCCCTCAGAGC 0.388 NaN 1 0 9.72345e-25 1 1.02414e-24 41 42 SMG7 9887 broad.mit.edu 37 1 183520021 183520021 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:183520021G>A uc001gqg.2 + 20 3241 c.3119G>A c.(3118-3120)AGA>AAA p.R1040K SMG7_uc001gqf.2_Missense_Mutation_p.R1044K|SMG7_uc001gqh.2_Missense_Mutation_p.R994K|SMG7_uc001gqi.2_Missense_Mutation_p.R952K|SMG7_uc010poc.1_Missense_Mutation_p.R1048K NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 1040 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AACAGGGATAGAAGGACTGCA 0.458 NaN 0 0 0 1 0 63 62 GLT25D2 23127 broad.mit.edu 37 1 183920230 183920230 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:183920230G>C uc001gqr.2 - 8 1419 c.1047C>G c.(1045-1047)CTC>CTG p.L349L GLT25D2_uc010poj.1_Silent_p.L349L|GLT25D2_uc001gqq.2_Silent_p.L86L|GLT25D2_uc001gqs.2_Silent_p.L229L NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 349 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 TTCTGCGTTTGAGGTTTATCA 0.413 NaN 0 0 0 1 0 127 202 NEK7 140609 broad.mit.edu 37 1 198262135 198262135 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:198262135C>T uc001gun.3 + 8 977 c.650C>T c.(649-651)TCT>TTT p.S217F NM_133494 NP_598001 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 217 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|lung(1)|ovary(1) 4 AACTTCAAATCTGACATCTGG 0.323 NaN 0 0 0 1 0 133 170 OPTC 26254 broad.mit.edu 37 1 203467966 203467966 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:203467966G>C uc001gzu.1 + 4 644 c.528G>C c.(526-528)CTG>CTC p.L176L NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 176 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) TCAAAGGGCTGAGTATGTAAT 0.557 NaN 0 0 0 1 0 45 55 IKBKE 9641 broad.mit.edu 37 1 206649607 206649607 + Nonsense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:206649607G>T uc001hdz.1 + 6 810 c.442G>T c.(442-444)GAG>TAG p.E148* IKBKE_uc009xbu.1_Nonsense_Mutation_p.E148*|IKBKE_uc009xbv.1_Nonsense_Mutation_p.E148*|IKBKE_uc001hea.1_Nonsense_Mutation_p.E63* NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 148 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CGTAGGGGAGGAGGGGCAGAG 0.607 NaN 1 0 5.5144e-22 1 5.76848e-22 59 81 OBSCN 84033 broad.mit.edu 37 1 228467882 228467882 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:228467882C>T uc009xez.1 + 29 7710 c.7666C>T c.(7666-7668)CGG>TGG p.R2556W OBSCN_uc001hsn.2_Missense_Mutation_p.R2556W|OBSCN_uc001hsp.1_Missense_Mutation_p.R255W|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2556 Ig-like 24. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TCTTGCAGCGCGGGAGGTGAC 0.642 NaN 0 0 0 1 0 55 73 LYST 1130 broad.mit.edu 37 1 235929543 235929543 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:235929543C>T uc001hxj.2 - 21 6132 c.5957G>A c.(5956-5958)CGA>CAA p.R1986Q LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1986 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACAAACCTCTCGGGGCATGGG 0.328 NaN Chediak-Higashi_syndrome 0 0 0 1 0 121 123 OR2L3 391192 broad.mit.edu 37 1 248224664 248224664 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:248224664G>A uc001idx.1 + 1 681 c.681G>A c.(679-681)ATG>ATA p.M227I OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 227 Cytoplasmic (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) TCTACCACATGAAATCTGCAG 0.468 NaN 0 0 0 1 0 92 158 OR2M5 127059 broad.mit.edu 37 1 248309371 248309371 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr1:248309371G>T uc010pze.1 + 1 922 c.922G>T c.(922-924)GGC>TGC p.G308C NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(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;0.0388) GTTAGGAAAGGGCAAGTGTGG 0.433 NaN 1 0 2.44723e-14 1 2.52127e-14 27 43 DHTKD1 55526 broad.mit.edu 37 10 12139993 12139993 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:12139993C>G uc001ild.3 + 8 1768 c.1669C>G c.(1669-1671)CAG>GAG p.Q557E NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 557 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GACACATGTTCAGGTGGGCAG 0.502 NaN 0 0 0 1 0 42 58 CAMK1D 57118 broad.mit.edu 37 10 12811675 12811675 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:12811675G>A uc001ilo.2 + 5 677 c.442G>A c.(442-444)GAA>AAA p.E148K CAMK1D_uc001iln.2_Missense_Mutation_p.E148K NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 148 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) TTTCTAGCCCGAAAATCTCTT 0.388 NaN 0 0 0 1 0 28 27 ERCC6 2074 broad.mit.edu 37 10 50682233 50682233 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:50682233G>A uc001jhs.3 - 13 2592 c.2438C>T c.(2437-2439)TCT>TTT p.S813F ERCC6_uc009xod.2_5'UTR|ERCC6_uc010qgr.1_Missense_Mutation_p.S183F|ERCC6_uc001jhr.3_Missense_Mutation_p.S181F NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 813 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GGGACCTCCAGAAAAGAGATC 0.413 NaN Direct_reversal_of_damage|NER 0 0 0 1 0 54 62 SLC18A3 6572 broad.mit.edu 37 10 50819248 50819248 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:50819248G>A uc001jhw.2 + 1 902 c.462G>A c.(460-462)CCG>CCA p.P154P 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 154 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 ACGACGTGCCGCTGCTGATCG 0.637 NaN 0 0 0 1 0 45 150 OGDHL 55753 broad.mit.edu 37 10 50955190 50955190 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:50955190C>T uc001jie.2 - 9 1194 c.1052G>A c.(1051-1053)CGG>CAG p.R351Q OGDHL_uc009xog.2_Missense_Mutation_p.R378Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R294Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R142Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R142Q NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 351 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 AGTGATGTTCCGGTTGGTGAC 0.587 NaN 0 0 0 1 0 61 82 PCDH15 65217 broad.mit.edu 37 10 55663071 55663071 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:55663071G>C uc001jju.1 - 26 3828 c.3433C>G c.(3433-3435)CAG>GAG p.Q1145E PCDH15_uc010qhq.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1157E|PCDH15_uc010qht.1_Missense_Mutation_p.Q1152E|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1145E|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1108E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1074E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1123E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1123E NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1145 Cadherin 11.|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) AATTTTTTCTGAAACACTGGG 0.353 NaN HNSCC(58;0.16) 0 0 0 1 0 35 38 HKDC1 80201 broad.mit.edu 37 10 71020971 71020971 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:71020971C>G uc001jpf.3 + 16 2426 c.2293C>G c.(2293-2295)CTC>GTC p.L765V HKDC1_uc010qje.1_Missense_Mutation_p.L628V|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 765 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 CAAGCAGGGTCTCCTCTTCCG 0.517 NaN 0 0 0 1 0 41 54 CHCHD1 118487 broad.mit.edu 37 10 75542839 75542839 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:75542839G>A uc001jvc.3 + 3 277 c.251G>A c.(250-252)CGA>CAA p.R84Q CHCHD1_uc001jvb.2_3'UTR|KIAA0913_uc009xrk.1_5'Flank|KIAA0913_uc001jve.2_5'Flank|KIAA0913_uc009xrl.2_5'Flank|KIAA0913_uc001jvf.2_5'Flank NM_203298 NP_976043 Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain 84 nucleus 0 Prostate(51;0.0112) CAGGAAGCCCGAAAGATGAGA 0.378 NaN 0 0 0 1 0 58 71 IFIT2 3433 broad.mit.edu 37 10 91066854 91066854 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:91066854C>T uc009xts.2 + 2 1316 c.1141C>T c.(1141-1143)CAG>TAG p.Q381* LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 381 TPR 6. negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) TGGCAACTTTCAGCTGTACCA 0.403 NaN 0 0 0 1 0 74 41 C10orf129 142827 broad.mit.edu 37 10 96967005 96967005 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:96967005G>C uc001kke.2 + 4 569 c.444G>C c.(442-444)AAG>AAC p.K148N C10orf129_uc009xuu.1_Missense_Mutation_p.K58N NM_207321 NP_997204 Q6P461 ACSM6_HUMAN acyl-coenzyme A synthetase ACSM6, mitochondrial 148 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TGACTGCCAAGAAAATTCGCT 0.463 NaN 0 0 0 1 0 76 59 PPRC1 23082 broad.mit.edu 37 10 103898696 103898696 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:103898696G>A uc001kum.2 + 4 589 c.550G>A c.(550-552)GAC>AAC p.D184N PPRC1_uc001kun.2_Missense_Mutation_p.D64N|PPRC1_uc010qqj.1_Missense_Mutation_p.D184N|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CACCCCAGTTGACCCACTGGG 0.562 NaN 0 0 0 1 0 67 55 PPRC1 23082 broad.mit.edu 37 10 103899460 103899460 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:103899460G>C uc001kum.2 + 5 1234 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q PPRC1_uc001kun.2_Missense_Mutation_p.E279Q|PPRC1_uc010qqj.1_Missense_Mutation_p.E399Q|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTCAGAGACAGAGGCTGCTGT 0.562 NaN 0 0 0 1 0 137 152 SLK 9748 broad.mit.edu 37 10 105768064 105768064 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:105768064G>C uc001kxo.1 + 12 2768 c.2734G>C c.(2734-2736)GAG>CAG p.E912Q SLK_uc001kxp.1_Missense_Mutation_p.E912Q NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 912 Potential. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity p.E912*(1) ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGGAGAACAAGAGAAAGAGTT 0.363 NaN 0 0 0 1 0 29 85 SORCS1 114815 broad.mit.edu 37 10 108412274 108412274 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:108412274C>T uc001kym.2 - 18 2349 c.2341G>A c.(2341-2343)GTA>ATA p.V781I SORCS1_uc001kyl.2_Missense_Mutation_p.V781I|SORCS1_uc009xxs.2_Missense_Mutation_p.V781I|SORCS1_uc001kyn.1_Missense_Mutation_p.V781I|SORCS1_uc001kyo.2_Missense_Mutation_p.V781I NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 781 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGTTCCCTTACGCCATCAGTG 0.493 NaN 0 0 0 1 0 32 95 DCLRE1A 9937 broad.mit.edu 37 10 115607068 115607068 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:115607068G>A uc001law.2 - 3 3070 c.2152C>T c.(2152-2154)CAG>TAG p.Q718* NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 718 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) ACGCCATACTGAAAGGCATCA 0.378 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 1 0 47 53 VWA2 340706 broad.mit.edu 37 10 116045895 116045895 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:116045895G>C uc001lbl.1 + 11 1516 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q VWA2_uc001lbk.1_Missense_Mutation_p.E399Q|VWA2_uc009xyf.1_Missense_Mutation_p.E95Q NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 399 VWFA 2. extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) GCCTGTGGGGGAGTACCAGGA 0.682 NaN 0 0 0 1 0 67 136 ATRNL1 26033 broad.mit.edu 37 10 117045884 117045884 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:117045884G>A uc001lcg.2 + 15 2778 c.2392G>A c.(2392-2394)GAA>AAA p.E798K NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 798 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGTTCTGGATGAAATACAGAA 0.269 NaN 0 0 0 1 0 35 71 ADAM12 8038 broad.mit.edu 37 10 127824155 127824155 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:127824155G>A uc001ljk.2 - 5 836 c.423C>T c.(421-423)CTC>CTT p.L141L ADAM12_uc010qul.1_Silent_p.L138L|ADAM12_uc001ljm.2_Silent_p.L141L|ADAM12_uc001ljn.2_Silent_p.L138L|ADAM12_uc001ljl.3_Silent_p.L138L NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 141 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCACTTACCTGAGACCAGAAC 0.512 NaN 0 0 0 1 0 32 67 C10orf90 118611 broad.mit.edu 37 10 128192934 128192934 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:128192934G>C uc001ljq.2 - 3 956 c.835C>G c.(835-837)CAA>GAA p.Q279E C10orf90_uc001ljp.2_Missense_Mutation_p.Q232E|C10orf90_uc010qum.1_Missense_Mutation_p.Q376E|C10orf90_uc009yao.2_Missense_Mutation_p.Q376E|C10orf90_uc001ljs.1_Missense_Mutation_p.Q232E NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 279 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTGGCAATTTGAGGTGGCTCA 0.502 NaN OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 76 144 MKI67 4288 broad.mit.edu 37 10 129902126 129902126 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:129902126C>G uc001lke.2 - 13 8173 c.7978G>C c.(7978-7980)GAA>CAA p.E2660Q MKI67_uc001lkf.2_Missense_Mutation_p.E2300Q|MKI67_uc009yav.1_Missense_Mutation_p.E2235Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1810Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2660 14.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGCTGGGTTCCTCTTCTACT 0.517 NaN 0 0 0 1 0 83 70 MKI67 4288 broad.mit.edu 37 10 129906114 129906114 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:129906114C>G uc001lke.2 - 13 4185 c.3990G>C c.(3988-3990)AAG>AAC p.K1330N MKI67_uc001lkf.2_Missense_Mutation_p.K970N|MKI67_uc009yav.1_Missense_Mutation_p.K905N|MKI67_uc009yaw.1_Missense_Mutation_p.K480N NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1330 16 X 122 AA approximate repeats.|3. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTGGCCGTCTCTTGCTGCCGG 0.502 NaN 0 0 0 1 0 123 124 KNDC1 85442 broad.mit.edu 37 10 135003134 135003134 + Missense_Mutation SNP G G C rs143362573 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr10:135003134G>C uc001llz.1 + 8 1475 c.1474G>C c.(1474-1476)GAG>CAG p.E492Q KNDC1_uc001lma.1_Missense_Mutation_p.E427Q NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 492 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCTGGTTGCTGAGGACGGGGC 0.672 NaN 0 0 0 1 0 31 25 OR52I1 390037 broad.mit.edu 37 11 4615695 4615695 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:4615695C>G uc010qyi.1 + 1 427 c.427C>G c.(427-429)CAA>GAA p.Q143E NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 143 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCACGCCTCAAGTGATGCT 0.507 NaN 0 0 0 1 0 53 10 OR52A4 390053 broad.mit.edu 37 11 5142104 5142104 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:5142104C>T uc001lzz.1 - 1 705 c.705G>A c.(703-705)CTG>CTA p.L235L NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GTGCCTCTTTCAGAGGCAAGT 0.358 NaN 0 0 0 1 0 43 5 IPO7 10527 broad.mit.edu 37 11 9455272 9455272 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:9455272C>G uc001mho.2 + 18 2095 c.1953C>G c.(1951-1953)TTC>TTG p.F651L NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 651 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTTAGAATTCTATGAGGAGA 0.383 NaN 0 0 0 1 0 59 6 EIF3M 10480 broad.mit.edu 37 11 32610646 32610646 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:32610646G>A uc001mtu.2 + 4 446 c.403G>A c.(403-405)GGG>AGG p.G135R EIF3M_uc010ref.1_Intron NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, 135 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) AGCATCTTGTGGGGCCATCCA 0.383 NaN 0 0 0 1 0 33 80 FBXO3 26273 broad.mit.edu 37 11 33763508 33763508 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:33763508C>G uc001muz.2 - 11 1390 c.1362G>C c.(1360-1362)CGG>CGC p.R454R FBXO3_uc010rej.1_Silent_p.R141R|FBXO3_uc001muy.2_Silent_p.R341R|FBXO3_uc009ykb.2_RNA NM_012175 NP_036307 Q9UK99 FBX3_HUMAN F-box only protein 3 isoform 1 454 Poly-Arg. proteolysis nucleus ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) AGACTCTCCTCCGTCTCTCCT 0.368 NaN 0 0 0 1 0 58 11 LRP4 4038 broad.mit.edu 37 11 46916251 46916251 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:46916251G>A uc001ndn.3 - 12 1575 c.1429C>T c.(1429-1431)CAC>TAC p.H477Y NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 477 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TCGCGGCGGTGGTGGAAATCA 0.582 NaN 0 0 0 1 0 81 9 SLC43A1 8501 broad.mit.edu 37 11 57256845 57256845 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:57256845G>C uc001nkk.2 - 12 1332 c.1214C>G c.(1213-1215)TCC>TGC p.S405C SLC43A1_uc001nkl.2_Missense_Mutation_p.S405C NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 405 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 TGGTCTGATGGATTTGGTAGC 0.577 NaN 0 0 0 1 0 44 130 ASRGL1 80150 broad.mit.edu 37 11 62159721 62159721 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:62159721G>C uc001nte.3 + 7 1176 c.892G>C c.(892-894)GAT>CAT p.D298H ASRGL1_uc001ntf.3_Missense_Mutation_p.D298H|ASRGL1_uc001ntg.3_Missense_Mutation_p.D170H NM_025080 NP_079356 Q7L266 ASGL1_HUMAN asparaginase-like 1 298 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) CTTCGGAATTGATCCTGACGA 0.527 NaN OREG0021023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 29 60 INTS5 80789 broad.mit.edu 37 11 62414897 62414897 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:62414897G>A uc001nud.2 - 2 2708 c.2655C>T c.(2653-2655)CTC>CTT p.L885L GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 885 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AATGGCCCAAGAGGGCGGCCA 0.642 NaN 0 0 0 1 0 32 72 INTS5 80789 broad.mit.edu 37 11 62416485 62416485 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:62416485G>C uc001nud.2 - 2 1120 c.1067C>G c.(1066-1068)TCT>TGT p.S356C GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 356 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AAGCTCTCCAGAGACAGTGCC 0.607 NaN 0 0 0 1 0 43 96 METTL12 751071 broad.mit.edu 37 11 62434355 62434355 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:62434355G>T uc001nug.1 + 3 814 c.555G>T c.(553-555)TTG>TTT p.L185F C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN methyltransferase like 12 precursor 185 mitochondrion methyltransferase activity 0 CAGAATGCTTGAGGGTTCTAA 0.547 NaN 1 0 5.26018e-13 1 5.41022e-13 21 28 FKBP2 2286 broad.mit.edu 37 11 64011466 64011466 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:64011466G>C uc001nyy.2 + 6 590 c.394G>C c.(394-396)GAG>CAG p.E132Q FKBP2_uc010rnh.1_Missense_Mutation_p.E132Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E132Q NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 132 PPIase FKBP-type. protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 GTTCGAGGTGGAGCTGCTCAA 0.572 NaN 0 0 0 1 0 52 118 GPR137 56834 broad.mit.edu 37 11 64054470 64054470 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:64054470G>C uc001nzg.1 + 3 699 c.391G>C c.(391-393)GAG>CAG p.E131Q BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.E137Q|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.E189Q|GPR137_uc001nze.1_Missense_Mutation_p.E131Q|GPR137_uc001nzf.2_Missense_Mutation_p.E131Q|GPR137_uc001nzh.1_Missense_Mutation_p.E131Q|GPR137_uc001nzi.2_Missense_Mutation_p.E131Q|GPR137_uc010rnj.1_Missense_Mutation_p.E131Q NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 131 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 GCGTCGGCCGGAGATGAGCCG 0.572 NaN 0 0 0 1 0 10 22 ATG2A 23130 broad.mit.edu 37 11 64662883 64662883 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:64662883G>T uc001obx.2 - 40 5574 c.5459C>A c.(5458-5460)TCC>TAC p.S1820Y uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.S585Y NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1820 protein binding ovary(1)|central_nervous_system(1) 2 GGCTGCCGGGGACAGGATGTC 0.701 NaN 1 0 1.26484e-09 1 1.28796e-09 7 9 PACS1 55690 broad.mit.edu 37 11 65961019 65961019 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:65961019C>G uc001oha.1 + 2 553 c.419C>G c.(418-420)TCA>TGA p.S140* PACS1_uc001ogz.1_Nonsense_Mutation_p.S140* NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 140 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GATCTTAACTCAGTGGTCATC 0.488 NaN 0 0 0 1 0 21 96 GPR152 390212 broad.mit.edu 37 11 67220174 67220174 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:67220174C>T uc001olm.2 - 1 27 c.22G>A c.(22-24)GAC>AAC p.D8N uc009yrw.1_Intron|CABP4_uc001oln.2_Intron|CABP4_uc001olo.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 8 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCACCCAGGTCAGCTTCCATG 0.602 NaN 0 0 0 1 0 59 36 UNC93B1 81622 broad.mit.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T rs4014596 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:67759316C>T uc001omw.1 - 12 1575 c.1495G>A c.(1495-1497)GTG>ATG p.V499M NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 499 Helical; (Potential). innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome 0 ACCAGCAGCACCGCCAGCTTA 0.741 NaN 0 0 0 1 0 3 28 SUV420H1 51111 broad.mit.edu 37 11 67957499 67957499 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:67957499C>G uc001onm.1 - 2 301 c.45G>C c.(43-45)AGG>AGC p.R15S SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R15S|SUV420H1_uc001onp.2_Missense_Mutation_p.R15S|SUV420H1_uc010rqa.1_Missense_Mutation_p.R15S|SUV420H1_uc001onq.2_Missense_Mutation_p.R15S NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTCCATTTCTCCTGCCATTCA 0.473 NaN 0 0 0 1 0 278 508 CTTN 2017 broad.mit.edu 37 11 70265929 70265929 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:70265929C>G uc001opv.3 + 9 852 c.646C>G c.(646-648)CAA>GAA p.Q216E CTTN_uc001opu.2_Missense_Mutation_p.Q216E|CTTN_uc001opw.3_Missense_Mutation_p.Q216E|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 216 Cortactin 4. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CTTTGAGTATCAAGGCAAAAC 0.473 NaN 0 0 0 1 0 137 35 RAB38 23682 broad.mit.edu 37 11 87908415 87908415 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:87908415G>C uc001pcj.1 - 1 185 c.138C>G c.(136-138)TTC>TTG p.F46L hsa-mir-3166|MI0014196_5'Flank NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 46 Effector region (By similarity). protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCTTGAGCGCGAAGTCCACGC 0.637 NaN 0 0 0 1 0 32 9 ATM 472 broad.mit.edu 37 11 108106537 108106537 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:108106537G>C uc001pkb.1 + 5 857 c.472G>C c.(472-474)GAA>CAA p.E158Q ATM_uc009yxr.1_Missense_Mutation_p.E158Q NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 158 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATACTGGTGTGAAATATCTCA 0.363 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 1 0 64 21 POU2AF1 5450 broad.mit.edu 37 11 111225125 111225125 + Missense_Mutation SNP G G C rs149278202 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:111225125G>C uc001plg.3 - 5 887 c.632C>G c.(631-633)TCT>TGT p.S211C NM_006235 NP_006226 Q16633 OBF1_HUMAN POU class 2 associating factor 1 211 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity kidney(1) 1 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) CTCTGGGATAGAGATGGGGAG 0.622 NaN T BCL6 NHL 0 0 0 1 0 35 12 FDXACB1 91893 broad.mit.edu 37 11 111747287 111747287 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:111747287G>C uc001pmc.3 - 4 907 c.610C>G c.(610-612)CAA>GAA p.Q204E ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q55E|C11orf1_uc001pmd.2_5'Flank NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 204 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 ATTCTGGGTTGAGAACCTTCA 0.413 NaN 0 0 0 1 0 52 19 TTC36 143941 broad.mit.edu 37 11 118399332 118399332 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:118399332C>G uc001ptg.1 + 2 133 c.133C>G c.(133-135)CAA>GAA p.Q45E TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Intron|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank NM_001080441 NP_001073910 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 45 binding 0 AGTTTTCCCTCAAGCACAGCT 0.572 NaN 0 0 0 1 0 56 10 GLB1L3 112937 broad.mit.edu 37 11 134183857 134183857 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:134183857C>T uc009zdf.2 + 17 1962 c.1602C>T c.(1600-1602)ATC>ATT p.I534I GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 534 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTGTCAGCATCAATAACTCTT 0.483 NaN 0 0 0 1 0 27 6 AKAP3 10566 broad.mit.edu 37 12 4724985 4724985 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:4724985C>T uc001qnb.3 - 5 2711 c.2482G>A c.(2482-2484)GAG>AAG p.E828K NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 828 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 CGCTCCTTCTCATAGCGCAGC 0.562 NaN 0 0 0 1 0 101 142 KCNA5 3741 broad.mit.edu 37 12 5155043 5155043 + Missense_Mutation SNP G G A rs139805781 byFrequency TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:5155043G>A uc001qni.2 + 1 1959 c.1730G>A c.(1729-1731)CGA>CAA p.R577Q NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 577 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GACAGTGCCCGAAGGGGCAGC 0.642 NaN 0 0 0 1 0 25 33 PHC1 1911 broad.mit.edu 37 12 9074235 9074235 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:9074235C>G uc001qvd.2 + 5 501 c.345C>G c.(343-345)AGC>AGG p.S115R PHC1_uc001qvc.1_Missense_Mutation_p.S78R|PHC1_uc010sgn.1_Missense_Mutation_p.S115R|PHC1_uc001qve.2_Missense_Mutation_p.S115R NM_004426 NP_004417 P78364 PHC1_HUMAN polyhomeotic 1-like 115 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|breast(1) 2 AGCTCATCAGCCGATCCCAGA 0.557 NaN 0 0 0 1 0 28 29 PZP 5858 broad.mit.edu 37 12 9303317 9303317 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:9303317G>A uc001qvl.2 - 34 4336 c.4307C>T c.(4306-4308)TCC>TTC p.S1436F PZP_uc009zgl.2_Missense_Mutation_p.S1222F NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AACCATGAAGGAAAAACTTAG 0.383 NaN 0 0 0 1 0 34 41 PRR4 11272 broad.mit.edu 37 12 10999683 10999683 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:10999683G>A uc001qyz.3 - 3 423 c.384C>T c.(382-384)CCC>CCT p.P128P PRR4_uc009zhp.2_Silent_p.P141P|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA NM_007244 NP_009175 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) isoform 2 128 visual perception extracellular space 0 GTTGCTCCTGGGGATGTCTTG 0.463 NaN 0 0 0 1 0 70 82 TAS2R50 259296 broad.mit.edu 37 12 11138715 11138715 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:11138715C>T uc001qzl.2 - 1 797 c.745G>A c.(745-747)GTT>ATT p.V249I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 249 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 GGACTCCAAACCGAAACGATT 0.438 NaN 0 0 0 1 0 40 58 CDKN1B 1027 broad.mit.edu 37 12 12870793 12870793 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:12870793C>G uc001rat.2 + 1 492 c.20C>G c.(19-21)TCT>TGT p.S7C NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 7 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GTGCGAGTGTCTAACGGGAGC 0.612 NaN Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 0 0 0 1 0 61 85 CDKN1B 1027 broad.mit.edu 37 12 12871765 12871765 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:12871765C>G uc001rat.2 + 2 954 c.482C>G c.(481-483)TCT>TGT p.S161C NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 161 Nuclear localization signal (Potential). S->A: No change in PKB/AKT1-mediated phosphorylation. autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) TTAGATTCTTCTACTCAAAAC 0.438 NaN Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 0 0 0 1 0 77 95 SOX5 6660 broad.mit.edu 37 12 23728769 23728769 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:23728769C>T uc001rfw.2 - 10 1270 c.1168G>A c.(1168-1170)GAA>AAA p.E390K SOX5_uc001rfx.2_Missense_Mutation_p.E377K|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.E4K|SOX5_uc010siv.1_Missense_Mutation_p.E377K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E342K NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 390 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGTGCCACTTCATCCTGCAAT 0.443 NaN 0 0 0 1 0 40 52 SOX5 6660 broad.mit.edu 37 12 23998926 23998926 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:23998926C>G uc001rfw.2 - 3 574 c.472G>C c.(472-474)GAG>CAG p.E158Q SOX5_uc001rfx.2_Missense_Mutation_p.E145Q|SOX5_uc001rfy.2_Missense_Mutation_p.E145Q|SOX5_uc010siv.1_Missense_Mutation_p.E145Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E110Q|SOX5_uc001rga.2_Missense_Mutation_p.E123Q NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 158 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CCTTCCGGCTCGTTTTTGATG 0.408 NaN 0 0 0 1 0 32 62 PRPF40B 25766 broad.mit.edu 37 12 50029643 50029643 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:50029643C>T uc001rur.1 + 14 1291 c.1227C>T c.(1225-1227)CTC>CTT p.L409L PRPF40B_uc001rup.1_Silent_p.L431L|PRPF40B_uc001ruq.1_Silent_p.L403L|PRPF40B_uc001rus.1_Silent_p.L352L NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 409 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CCAAGCAGCTCCGGCGCCGCA 0.602 NaN 0 0 0 1 0 43 44 SCN8A 6334 broad.mit.edu 37 12 52100287 52100287 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:52100287C>T uc001ryw.2 + 11 1601 c.1423C>T c.(1423-1425)CGG>TGG p.R475W SCN8A_uc010snl.1_Missense_Mutation_p.R340W|SCN8A_uc001ryx.1_Missense_Mutation_p.R340W|SCN8A_uc001ryz.1_Missense_Mutation_p.R340W|SCN8A_uc001ryy.2_Missense_Mutation_p.R340W NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 475 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGGCTCCCCTCGGAGCTCTTC 0.502 NaN 0 0 0 1 0 12 10 EIF4B 1975 broad.mit.edu 37 12 53412671 53412671 + Silent SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:53412671C>A uc001sbh.3 + 3 447 c.241C>A c.(241-243)CGG>AGG p.R81R EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.R81R|EIF4B_uc010snv.1_Silent_p.R81R|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 81 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 ACGGGCTGCTCGGGAACCCAA 0.512 NaN 1 0 6.09941e-20 1 6.34794e-20 52 113 SMARCC2 6601 broad.mit.edu 37 12 56575311 56575311 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:56575311G>C uc001skb.2 - 10 1017 c.911C>G c.(910-912)TCT>TGT p.S304C SMARCC2_uc001skd.2_Missense_Mutation_p.S304C|SMARCC2_uc001ska.2_Missense_Mutation_p.S304C|SMARCC2_uc001skc.2_Missense_Mutation_p.S304C|SMARCC2_uc010sqf.1_Missense_Mutation_p.S193C NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 304 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGTGAAGGAGAGGGGGAGCG 0.507 NaN 0 0 0 1 0 29 45 BAZ2A 11176 broad.mit.edu 37 12 56996518 56996518 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:56996518C>A uc001slq.1 - 19 3603 c.3409G>T c.(3409-3411)GAA>TAA p.E1137* BAZ2A_uc001slp.1_Nonsense_Mutation_p.E1135*|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_Nonsense_Mutation_p.E107*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.E1105* NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1137 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TCTGTTCCTTCTACAAAGATA 0.493 NaN 1 0 3.6726e-16 1 3.79647e-16 20 33 SRGAP1 57522 broad.mit.edu 37 12 64472798 64472798 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:64472798G>C uc010ssp.1 + 9 1281 c.1225G>C c.(1225-1227)GAA>CAA p.E409Q SRGAP1_uc001srt.2_Missense_Mutation_p.E409Q|SRGAP1_uc001srv.2_Missense_Mutation_p.E369Q NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 409 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TCGTTCCACAGAATCAGTGAA 0.468 NaN 0 0 0 1 0 37 44 ZDHHC17 23390 broad.mit.edu 37 12 77239552 77239552 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:77239552C>T uc001syk.1 + 13 1556 c.1393C>T c.(1393-1395)CAT>TAT p.H465Y NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 465 Cytoplasmic (Potential).|DHHC-type. lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 AAAATTTGATCATCATTGCCC 0.348 NaN 0 0 0 1 0 102 113 SLC6A15 55117 broad.mit.edu 37 12 85285836 85285836 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:85285836C>G uc001szv.2 - 2 557 c.64G>C c.(64-66)GAC>CAC p.D22H SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.D22H NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 22 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 GAAAGAAGGTCTTTGACAGAC 0.353 NaN 0 0 0 1 0 79 113 AMDHD1 144193 broad.mit.edu 37 12 96354209 96354209 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:96354209C>T uc001tel.1 + 5 727 c.621C>T c.(619-621)ATC>ATT p.I207I AMDHD1_uc009zth.1_Silent_p.I98I NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 207 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 CTGATGACATCATCAATAACC 0.403 NaN 0 0 0 1 0 17 38 TXNRD1 7296 broad.mit.edu 37 12 104609593 104609593 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:104609593G>A uc010swk.1 + 1 35 c.13G>A c.(13-15)GAG>AAG p.E5K TXNRD1_uc001tkm.1_Intron NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 5 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 GGGCTGCGCCGAGGGCAAGGC 0.721 NaN OREG0022069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 3 2 NUAK1 9891 broad.mit.edu 37 12 106461446 106461446 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:106461446C>G uc001tlj.1 - 7 2500 c.1120G>C c.(1120-1122)GAG>CAG p.E374Q NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 374 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 AAGTCATTCTCTTTCTTGGAT 0.542 NaN 0 0 0 1 0 42 58 ATXN2 6311 broad.mit.edu 37 12 111926344 111926344 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:111926344G>C uc001tsj.2 - 15 2818 c.2656C>G c.(2656-2658)CAG>GAG p.Q886E ATXN2_uc001tsh.2_Missense_Mutation_p.Q621E|ATXN2_uc001tsi.2_Missense_Mutation_p.Q597E|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.Q72E NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 886 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CTGGAAGTCTGAACCCCTTGG 0.498 NaN 0 0 0 1 0 33 64 NAA25 80018 broad.mit.edu 37 12 112530905 112530905 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:112530905G>A uc001ttm.2 - 2 114 c.94C>T c.(94-96)CAG>TAG p.Q32* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Q4*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Q32* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 32 TPR 1. cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TCTGCTTGCTGAATTGCCATT 0.308 NaN 0 0 0 1 0 54 70 TBX5 6910 broad.mit.edu 37 12 114793425 114793425 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:114793425G>C uc001tvo.2 - 9 1964 c.1469C>G c.(1468-1470)TCT>TGT p.S490C TBX5_uc001tvp.2_Missense_Mutation_p.S490C|TBX5_uc001tvq.2_Missense_Mutation_p.S440C NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 490 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CACGCCATGAGAGTAGAGGAA 0.612 NaN 0 0 0 1 0 20 48 FBXO21 23014 broad.mit.edu 37 12 117583954 117583954 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:117583954C>G uc001twk.2 - 12 1864 c.1825G>C c.(1825-1827)GAG>CAG p.E609Q FBXO21_uc001twj.2_Missense_Mutation_p.E602Q|FBXO21_uc009zwq.2_Missense_Mutation_p.E542Q NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 609 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TAGACAAACTCCAGATCTTCT 0.453 NaN 0 0 0 1 0 48 86 GCN1L1 10985 broad.mit.edu 37 12 120575576 120575576 + Missense_Mutation SNP C C T rs146550123 by1000genomes TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:120575576C>T uc001txo.2 - 49 6449 c.6436G>A c.(6436-6438)GAC>AAC p.D2146N NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2146 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCCCTGTGTCATCCTCTACG 0.582 NaN 0 0 0 1 0 23 21 HNF1A 6927 broad.mit.edu 37 12 121426650 121426650 + Missense_Mutation SNP G G A rs139016696 byFrequency TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:121426650G>A uc001tzg.2 + 2 364 c.341G>A c.(340-342)CGT>CAT p.R114H HNF1A_uc001tze.1_Missense_Mutation_p.R114H|HNF1A_uc001tzf.2_Missense_Mutation_p.R114H|HNF1A_uc010szn.1_Missense_Mutation_p.R114H NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 114 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GACCCGTGGCGTGTGGCGAAG 0.627 NaN Hepatic_Adenoma_Familial_Clustering_of 0 0 0 1 0 29 42 SBNO1 55206 broad.mit.edu 37 12 123798237 123798237 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:123798237C>G uc010tap.1 - 23 3150 c.3150G>C c.(3148-3150)ATG>ATC p.M1050I SBNO1_uc010tao.1_Missense_Mutation_p.M1049I|SBNO1_uc010taq.1_Missense_Mutation_p.M1I|SBNO1_uc001ues.1_Missense_Mutation_p.M1I NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1050 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CAATGGATTTCATGACAATTT 0.333 NaN 0 0 0 1 0 17 19 DNAH10 196385 broad.mit.edu 37 12 124398990 124398990 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:124398990C>T uc001uft.3 + 60 10138 c.10113C>T c.(10111-10113)GAC>GAT p.D3371D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3371 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGTTCCGTGACGAGATGGTCA 0.597 NaN 0 0 0 1 0 48 55 RIMBP2 23504 broad.mit.edu 37 12 130926567 130926567 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr12:130926567C>A uc001uil.2 - 8 1443 c.1279G>T c.(1279-1281)GAG>TAG p.E427* RIMBP2_uc001uim.2_Nonsense_Mutation_p.E335*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.E86* NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 427 Fibronectin type-III 2. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGAACTCCTCCTCGTTGAGG 0.572 NaN 1 0 2.66076e-39 1 2.8366e-39 57 67 MPHOSPH8 54737 broad.mit.edu 37 13 20222578 20222578 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:20222578G>C uc001umh.2 + 4 1244 c.1235G>C c.(1234-1236)AGA>ACA p.R412T MPHOSPH8_uc001umg.2_Missense_Mutation_p.R412T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R109T NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 412 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GAAACCAAAAGAAATGAATCC 0.318 NaN 0 0 0 1 0 6 10 SLC7A1 6541 broad.mit.edu 37 13 30091761 30091761 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:30091761C>G uc001uso.2 - 10 1846 c.1459G>C c.(1459-1461)GAG>CAG p.E487Q NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 487 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TTGGAAGGCTCCATGTTTTTG 0.463 NaN 0 0 0 1 0 82 79 C13orf36 400120 broad.mit.edu 37 13 37269507 37269507 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:37269507C>T uc001uvt.3 + 2 738 c.292C>T c.(292-294)CAG>TAG p.Q98* NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 98 integral to membrane skin(1) 1 CATTTCCTCTCAGAGGTCCAC 0.483 NaN 0 0 0 1 0 35 37 FREM2 341640 broad.mit.edu 37 13 39432167 39432167 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:39432167C>G uc001uwv.2 + 13 7521 c.7212C>G c.(7210-7212)ATC>ATG p.I2404M FREM2_uc001uww.2_Missense_Mutation_p.I490M NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2404 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCATCTGTATCACAGTGAGTA 0.353 NaN 0 0 0 1 0 43 88 RB1 5925 broad.mit.edu 37 13 49050910 49050910 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:49050910G>T uc001vcb.2 + 25 2760 c.2594G>T c.(2593-2595)GGA>GTA p.G865V NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 865 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGTGCTGAAGGAAGCAACCCT 0.383 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 1 0 6.81593e-30 1 7.21618e-30 46 78 MYCBP2 23077 broad.mit.edu 37 13 77642919 77642919 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:77642919G>C uc001vkf.2 - 71 11929 c.11838C>G c.(11836-11838)GTC>GTG p.V3946V MYCBP2_uc010aev.2_Silent_p.V3350V|MYCBP2_uc001vke.2_Silent_p.V563V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3946 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATTCTTCACGGACTCTGGTAG 0.398 NaN 0 0 0 1 0 59 56 EDNRB 1910 broad.mit.edu 37 13 78474013 78474013 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:78474013C>G uc001vko.2 - 6 1433 c.1175G>C c.(1174-1176)AGA>ACA p.R392T EDNRB_uc001vkq.1_Missense_Mutation_p.R392T|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.R392T|EDNRB_uc001vkp.1_Missense_Mutation_p.R475T NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 392 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GTTTTTGAATCTTTTGCTCAC 0.338 NaN 0 0 0 1 0 39 36 SLITRK5 26050 broad.mit.edu 37 13 88328479 88328479 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr13:88328479C>G uc001vln.2 + 2 1055 c.836C>G c.(835-837)TCC>TGC p.S279C SLITRK5_uc010tic.1_Missense_Mutation_p.S38C NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 279 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACGAGGTATCCAAGCAGGAA 0.542 NaN 0 0 0 1 0 32 77 TEP1 7011 broad.mit.edu 37 14 20876254 20876254 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:20876254G>A uc001vxe.2 - 2 385 c.345C>T c.(343-345)CTC>CTT p.L115L TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L115L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 115 TEP1 N-terminal 4. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTAGACTAGAGAGGGTGGCCA 0.512 NaN 0 0 0 1 0 67 110 SUPT16H 11198 broad.mit.edu 37 14 21822642 21822642 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:21822642C>G uc001wao.2 - 23 3057 c.2718G>C c.(2716-2718)ATG>ATC p.M906I SUPT16H_uc001wan.2_Missense_Mutation_p.M50I NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 906 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CAATGGTCTTCATGATTTTAG 0.463 NaN 0 0 0 1 0 46 58 CMTM5 116173 broad.mit.edu 37 14 23847933 23847933 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:23847933C>T uc010akm.2 + 3 779 c.335C>T c.(334-336)TCA>TTA p.S112L CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 112 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CTCTCCCACTCAGCAAAGGTC 0.632 NaN 0 0 0 1 0 33 59 CTSG 1511 broad.mit.edu 37 14 25044531 25044531 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:25044531C>G uc001wpq.2 - 2 180 c.143G>C c.(142-144)AGA>ACA p.R48T NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 48 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CCCTCCACATCTGCTCTGACC 0.592 NaN 0 0 0 1 0 114 136 BAZ1A 11177 broad.mit.edu 37 14 35227966 35227966 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:35227966C>G uc001wsk.2 - 25 4898 c.4330G>C c.(4330-4332)GAA>CAA p.E1444Q BAZ1A_uc001wsl.2_Missense_Mutation_p.E1412Q NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1444 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CGTACCAATTCTACAACAAGT 0.393 NaN 0 0 0 1 0 41 74 DLGAP5 9787 broad.mit.edu 37 14 55642131 55642131 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:55642131C>T uc001xbs.2 - 10 1451 c.1234G>A c.(1234-1236)GAA>AAA p.E412K DLGAP5_uc001xbt.2_Missense_Mutation_p.E412K NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 412 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 GATGGGACTTCTTTTATTGGA 0.313 NaN 0 0 0 1 0 21 16 C14orf105 55195 broad.mit.edu 37 14 57947337 57947337 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:57947337C>T uc001xcy.2 - 5 774 c.631G>A c.(631-633)GAT>AAT p.D211N C14orf105_uc010trl.1_Missense_Mutation_p.D210N|C14orf105_uc010trm.1_Missense_Mutation_p.D122N|C14orf105_uc010trn.1_Missense_Mutation_p.D122N|C14orf105_uc001xcz.2_Missense_Mutation_p.D210N|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.D132N NM_018168 NP_060638 Q9NVL8 CN105_HUMAN hypothetical protein LOC55195 211 0 AAGATTTCATCAGGCAACATG 0.393 NaN 0 0 0 1 0 59 89 SYNE2 23224 broad.mit.edu 37 14 64522742 64522742 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:64522742C>T uc001xgm.2 + 49 10055 c.9825C>T c.(9823-9825)CTC>CTT p.L3275L SYNE2_uc001xgl.2_Silent_p.L3275L|SYNE2_uc010apw.1_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3275 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCACTTCCCTCGAAGCCATCA 0.408 NaN 0 0 0 1 0 44 53 SYNE2 23224 broad.mit.edu 37 14 64593421 64593421 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:64593421G>C uc001xgm.2 + 73 14043 c.13813G>C c.(13813-13815)GAA>CAA p.E4605Q SYNE2_uc001xgl.2_Missense_Mutation_p.E4605Q|SYNE2_uc010apy.2_Missense_Mutation_p.E990Q|SYNE2_uc010apz.1_Missense_Mutation_p.E497Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4605 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTTGCTCCTTGAATGTTTTGA 0.478 NaN 0 0 0 1 0 55 59 SIPA1L1 26037 broad.mit.edu 37 14 72176165 72176165 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:72176165C>G uc001xms.2 + 15 4403 c.4055C>G c.(4054-4056)TCA>TGA p.S1352* SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.S1352*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.S806*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.S117* NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1352 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCACCTCGCTCAGGGCCAGGC 0.612 NaN 0 0 0 1 0 32 50 PAPLN 89932 broad.mit.edu 37 14 73727502 73727502 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:73727502G>A uc010ttx.1 + 16 2234 c.2071G>A c.(2071-2073)GGG>AGG p.G691R PAPLN_uc001xnw.3_Missense_Mutation_p.G664R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G691R|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 691 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TGACAGCACCGGGGGCATGCC 0.637 NaN 0 0 0 1 0 26 19 TGFB3 7043 broad.mit.edu 37 14 76427367 76427367 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:76427367C>G uc001xsc.2 - 6 1835 c.979G>C c.(979-981)GAT>CAT p.D327H NM_003239 NP_003230 P10600 TGFB3_HUMAN transforming growth factor, beta 3 precursor 327 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0169) CAGCCCAGATCCTGTCGGAAG 0.488 NaN 0 0 0 1 0 54 85 TTC7B 145567 broad.mit.edu 37 14 91123528 91123528 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:91123528G>C uc001xyp.2 - 11 1453 c.1331C>G c.(1330-1332)TCC>TGC p.S444C TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 444 binding ovary(2) 2 Melanoma(154;0.222) CCAGTGCAGGGAGCCCATGCA 0.622 NaN 0 0 0 1 0 44 76 ATP10A 57194 broad.mit.edu 37 15 25981266 25981266 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:25981266G>A uc010ayu.2 - 3 783 c.677C>T c.(676-678)ACG>ATG p.T226M NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 226 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCTGGTGAACGTCAAAGGATT 0.507 NaN 0 0 0 1 0 24 43 GABRG3 2567 broad.mit.edu 37 15 27772741 27772741 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:27772741G>A uc001zbg.1 + 8 1194 c.1028G>A c.(1027-1029)TGT>TAT p.C343Y NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 343 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TATTCCAGCTGTAGAAAACCA 0.522 NaN 0 0 0 1 0 11 15 RAD51 5888 broad.mit.edu 37 15 41023291 41023291 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:41023291G>A uc001zmi.3 + 10 1234 c.935G>A c.(934-936)TGC>TAC p.C312Y RAD51_uc010bbw.2_Silent_p.L271L|RAD51_uc010bbx.2_Missense_Mutation_p.C313Y|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.C313Y NM_002875 NP_002866 Q06609 RAD51_HUMAN RAD51 homolog protein isoform 1 312 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity 0 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) ACCAGAATCTGCAAAATCTAC 0.423 NaN Homologous_recombination 0 0 0 1 0 50 66 VPS18 57617 broad.mit.edu 37 15 41192994 41192994 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:41192994G>A uc001zne.2 + 4 2317 c.1978G>A c.(1978-1980)GAG>AAG p.E660K NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 660 Clathrin. endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGGGGAGACTGAGCAGGCCAT 0.637 NaN 0 0 0 1 0 94 105 FBN1 2200 broad.mit.edu 37 15 48741027 48741027 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:48741027C>T uc001zwx.1 - 46 5937 c.5609G>A c.(5608-5610)GGA>GAA p.G1870E FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1870 EGF-like 31; calcium-binding. 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) ATAAAAGCTTCCAACTGTGTC 0.353 NaN 0 0 0 1 0 31 36 LEO1 123169 broad.mit.edu 37 15 52258162 52258162 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:52258162C>T uc002abo.2 - 2 614 c.598G>A c.(598-600)GAG>AAG p.E200K LEO1_uc010bfd.2_Missense_Mutation_p.E200K NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, 200 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding 0 all cancers(107;0.00264) TGTTGTCTCTCATCATCGGAA 0.438 NaN 0 0 0 1 0 150 193 TLN2 83660 broad.mit.edu 37 15 63008574 63008574 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:63008574G>C uc002alb.3 + 20 2679 c.2679G>C c.(2677-2679)CTG>CTC p.L893L NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 893 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGCAAAGGCTGAGAGAAGCTG 0.502 NaN 0 0 0 1 0 35 48 HCN4 10021 broad.mit.edu 37 15 73615897 73615897 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:73615897G>A uc002avp.2 - 8 3531 c.2537C>T c.(2536-2538)CCG>CTG p.P846L NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 846 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CACCTGGGACGGGCTGCTGGC 0.672 NaN 0 0 0 1 0 54 84 C15orf39 56905 broad.mit.edu 37 15 75498861 75498861 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:75498861G>C uc002azp.3 + 2 792 c.472G>C c.(472-474)GAC>CAC p.D158H C15orf39_uc002azq.3_Missense_Mutation_p.D158H|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 158 0 ACTGGATGTTGACTGGACTCT 0.612 NaN 0 0 0 1 0 42 71 NEIL1 79661 broad.mit.edu 37 15 75641328 75641328 + Nonsense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:75641328G>T uc002bad.2 + 2 588 c.82G>T c.(82-84)GAG>TAG p.E28* NEIL1_uc002bae.2_Nonsense_Mutation_p.E114* NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 28 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 CGGCTGCGTGGAGAAGTCCTC 0.647 NaN BER_DNA_glycosylases 1 0 1.74807e-11 1 1.78893e-11 29 60 SEC11A 23478 broad.mit.edu 37 15 85259297 85259297 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:85259297G>C uc002blb.1 - 1 378 c.10C>G c.(10-12)CTA>GTA p.L4V SEC11A_uc002blc.1_5'UTR NM_014300 NP_055115 P67812 SC11A_HUMAN SEC11-like 1 4 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome protein binding|serine-type peptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) AAAAAGTCTAGAGACAGCATG 0.622 NaN 0 0 0 1 0 21 23 AGBL1 123624 broad.mit.edu 37 15 86807733 86807733 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:86807733C>G uc002blz.1 + 10 1273 c.1193C>G c.(1192-1194)TCC>TGC p.S398C AGBL1_uc002bma.1_Missense_Mutation_p.S129C|AGBL1_uc002bmb.1_Missense_Mutation_p.S92C NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 398 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 AATGTGCAATCCAATAGTCTC 0.488 NaN 0 0 0 1 0 17 42 BLM 641 broad.mit.edu 37 15 91341444 91341444 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:91341444G>A uc002bpr.2 + 17 3332 c.3235G>A c.(3235-3237)GAC>AAC p.D1079N BLM_uc010uqh.1_Missense_Mutation_p.D1079N|BLM_uc010uqi.1_Missense_Mutation_p.D704N|BLM_uc010bnx.2_Missense_Mutation_p.D1079N|BLM_uc002bpt.2_Missense_Mutation_p.D54N NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 1079 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AGATGTGACTGACGATGTGAA 0.294 NaN Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 0 0 0 1 0 32 32 IGF1R 3480 broad.mit.edu 37 15 99467847 99467847 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr15:99467847C>T uc002bul.2 + 13 2766 c.2716C>T c.(2716-2718)CAG>TAG p.Q906* IGF1R_uc010bon.2_Nonsense_Mutation_p.Q906*|IGF1R_uc010boo.1_RNA NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 906 Extracellular (Potential).|Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AGCCCGGATTCAGGCCACATC 0.527 NaN 0 0 0 1 0 36 81 GNPTG 84572 broad.mit.edu 37 16 1412126 1412126 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:1412126G>A uc002clm.2 + 6 440 c.405G>A c.(403-405)CAG>CAA p.Q135Q NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 135 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) GGAGCCGGCAGAGCAAGGTGG 0.667 NaN 0 0 0 1 0 8 0 TSC2 7249 broad.mit.edu 37 16 2110794 2110794 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:2110794C>T uc002con.2 + 11 1205 c.1099C>T c.(1099-1101)CGG>TGG p.R367W TSC2_uc010bsd.2_Missense_Mutation_p.R367W|TSC2_uc002coo.2_Missense_Mutation_p.R367W|TSC2_uc010uvv.1_Missense_Mutation_p.R330W|TSC2_uc010uvw.1_Missense_Mutation_p.R318W|TSC2_uc002cop.2_Missense_Mutation_p.R167W NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 367 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CATCATCGAACGGCTCCTTCA 0.602 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 1 0 47 8 CEMP1 752014 broad.mit.edu 37 16 2580759 2580759 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:2580759G>A uc002cqr.2 - 1 672 c.316C>T c.(316-318)CAG>TAG p.Q106* AMDHD2_uc010uwc.1_Silent_p.*595*|AMDHD2_uc010uwd.1_Silent_p.*359* NM_001048212 NP_001041677 Q6PRD7 CEMP1_HUMAN cementum protein 1 106 cytoplasm skin(1) 1 GGCCTCGCCTGAGGGAGGGCC 0.632 NaN 0 0 0 1 0 17 4 SRRM2 23524 broad.mit.edu 37 16 2814872 2814872 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:2814872G>C uc002crk.2 + 11 4892 c.4343G>C c.(4342-4344)AGA>ACA p.R1448T SRRM2_uc002crj.1_Missense_Mutation_p.R1352T|SRRM2_uc002crl.1_Missense_Mutation_p.R1448T|SRRM2_uc010bsu.1_Missense_Mutation_p.R1352T NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1448 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCAGGACTTAGAGATGGGTCT 0.493 NaN 0 0 0 1 0 86 22 SRRM2 23524 broad.mit.edu 37 16 2815072 2815072 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:2815072G>C uc002crk.2 + 11 5092 c.4543G>C c.(4543-4545)GAA>CAA p.E1515Q SRRM2_uc002crj.1_Missense_Mutation_p.E1419Q|SRRM2_uc002crl.1_Missense_Mutation_p.E1515Q|SRRM2_uc010bsu.1_Missense_Mutation_p.E1419Q NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1515 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCCCCAGAGAGAAAGAAGCGG 0.522 NaN 0 0 0 1 0 135 37 ADCY9 115 broad.mit.edu 37 16 4016668 4016668 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:4016668C>G uc002cvx.2 - 11 3709 c.3170G>C c.(3169-3171)GGA>GCA p.G1057A NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1057 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 GATCACCCCTCCGCTGTCATG 0.592 NaN 0 0 0 1 0 156 35 HMOX2 3163 broad.mit.edu 37 16 4556895 4556895 + Splice_Site SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:4556895G>A uc010bts.2 + 3 258 c.87_splice c.e3-1 p.R29_splice HMOX2_uc002cwr.3_Splice_Site_p.R29_splice|HMOX2_uc002cwq.3_Splice_Site_p.R29_splice|HMOX2_uc002cws.3_Splice_Site_p.R83_splice|HMOX2_uc010btt.2_Splice_Site_p.R29_splice|HMOX2_uc002cwt.2_Splice_Site_p.R29_splice NM_001127206 NP_001120678 P30519 HMOX2_HUMAN heme oxygenase (decyclizing) 2 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding 0 NADH(DB00157) TCTCTCCACAGAATGGCTGAC 0.517 NaN OREG0023582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 112 30 DNAH3 55567 broad.mit.edu 37 16 21136611 21136611 + Nonsense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:21136611G>C uc010vbe.1 - 9 1289 c.1289C>G c.(1288-1290)TCA>TGA p.S430* DNAH3_uc002die.2_Nonsense_Mutation_p.S401* NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 430 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) GTTTCGACTTGAGTCATAGTT 0.483 NaN 0 0 0 1 0 63 21 TMEM159 57146 broad.mit.edu 37 16 21172532 21172532 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:21172532C>G uc002dif.3 + 2 390 c.29C>G c.(28-30)TCA>TGA p.S10* DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Nonsense_Mutation_p.S10*|TMEM159_uc002dih.3_Nonsense_Mutation_p.S10* NM_020422 NP_065155 Q96B96 TM159_HUMAN transmembrane protein 159 10 integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0972) CAGAGTATCTCAAGGGACTTG 0.438 NaN 0 0 0 1 0 29 9 CLN3 1201 broad.mit.edu 37 16 28493700 28493700 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:28493700C>G uc002dpo.2 - 12 1233 c.910G>C c.(910-912)GAA>CAA p.E304Q uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.E226Q|CLN3_uc010vcu.1_Missense_Mutation_p.E204Q|CLN3_uc002dpn.2_Missense_Mutation_p.E205Q|CLN3_uc002dpm.2_Missense_Mutation_p.E250Q|CLN3_uc010vcv.1_Missense_Mutation_p.E280Q|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.E304Q|CLN3_uc002dpt.1_Missense_Mutation_p.E204Q|CLN3_uc002dpq.1_Missense_Mutation_p.E256Q|CLN3_uc010bye.1_Missense_Mutation_p.E287Q|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.E177Q|CLN3_uc002dpu.1_Missense_Mutation_p.E202Q|CLN3_uc002dpw.1_Missense_Mutation_p.E151Q|CLN3_uc010vcw.1_Missense_Mutation_p.E250Q|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 304 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 AAGAGGAGTTCAAACTGCAAC 0.592 NaN 0 0 0 1 0 27 39 CD19 930 broad.mit.edu 37 16 28948444 28948444 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:28948444C>T uc002drs.2 + 8 1247 c.1185C>T c.(1183-1185)AGC>AGT p.S395S uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S395S NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 395 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 GGTCCCGGAGCCCGCCGGGAG 0.692 NaN 0 0 0 1 0 4 6 RNF40 9810 broad.mit.edu 37 16 30777495 30777495 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:30777495G>A uc002dzq.2 + 9 1128 c.1005G>A c.(1003-1005)CTG>CTA p.L335L RNF40_uc010caa.2_Silent_p.L335L|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L335L|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 335 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) TTGAGATGCTGAATGCAGAGT 0.592 NaN 0 0 0 1 0 53 88 MYLK3 91807 broad.mit.edu 37 16 46764544 46764544 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:46764544G>C uc002eei.3 - 5 1645 c.1529C>G c.(1528-1530)TCT>TGT p.S510C MYLK3_uc010vge.1_Missense_Mutation_p.S169C|MYLK3_uc002eej.1_Missense_Mutation_p.S169C NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 510 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTAACCCGCAGAGATGGAGGT 0.612 NaN 0 0 0 1 0 72 126 NUP93 9688 broad.mit.edu 37 16 56857669 56857669 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:56857669G>A uc002eka.2 + 8 826 c.705G>A c.(703-705)TTG>TTA p.L235L NUP93_uc002ekb.2_Silent_p.L112L|NUP93_uc010vhi.1_Silent_p.L112L NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 235 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 ACGTGTTGTTGACACCGGCAA 0.517 NaN 0 0 0 1 0 77 85 SLC12A3 6559 broad.mit.edu 37 16 56899426 56899426 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:56899426C>G uc010ccm.2 + 1 308 c.279C>G c.(277-279)CTC>CTG p.L93L SLC12A3_uc002ekd.3_Silent_p.L93L|SLC12A3_uc010ccn.2_Silent_p.L93L NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 93 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ACTCCTTCCTCAAGGTAAGTG 0.373 NaN 0 0 0 1 0 32 38 FBXL8 55336 broad.mit.edu 37 16 67195736 67195736 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:67195736C>T uc002erj.1 + 2 168 c.48C>T c.(46-48)ATC>ATT p.I16I TRADD_uc002eri.1_5'Flank|TRADD_uc010vjb.1_5'Flank|FBXL8_uc002erk.1_Silent_p.I16I|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank NM_018378 NP_060848 Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 16 F-box. protein binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) TGGCACTCATCTTCCGCCACC 0.682 NaN 0 0 0 1 0 13 17 FBXL8 55336 broad.mit.edu 37 16 67196840 67196840 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:67196840C>T uc002erj.1 + 3 362 c.242C>T c.(241-243)TCG>TTG p.S81L FBXL8_uc002erk.1_Missense_Mutation_p.S81L|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank NM_018378 NP_060848 Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 81 protein binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) TTTGAGCCATCGAGGAAGCCG 0.632 NaN 0 0 0 1 0 3 2 E2F4 1874 broad.mit.edu 37 16 67228652 67228652 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:67228652C>G uc002erz.2 + 6 640 c.577C>G c.(577-579)CTG>GTG p.L193V NM_001950 NP_001941 Q16254 E2F4_HUMAN E2F transcription factor 4 193 G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) CATTGAGGTTCTGCTGGTGAA 0.542 NaN 0 0 0 1 0 63 58 FAM65A 79567 broad.mit.edu 37 16 67575861 67575861 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:67575861C>G uc010vjp.1 + 13 1328 c.1232C>G c.(1231-1233)TCA>TGA p.S411* FAM65A_uc010cei.1_Nonsense_Mutation_p.S233*|FAM65A_uc002eth.2_Nonsense_Mutation_p.S391*|FAM65A_uc010cej.2_Nonsense_Mutation_p.S394*|FAM65A_uc002eti.1_Nonsense_Mutation_p.S354*|FAM65A_uc010vjq.1_Nonsense_Mutation_p.S405*|FAM65A_uc002etj.1_Nonsense_Mutation_p.S390*|FAM65A_uc002etk.2_Nonsense_Mutation_p.S390* NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 395 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCACAGCTCTCAGGCACTGCC 0.622 NaN 0 0 0 1 0 44 71 SLC12A4 6560 broad.mit.edu 37 16 67985897 67985897 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:67985897C>T uc002euz.2 - 8 1102 c.961G>A c.(961-963)GAC>AAC p.D321N SLC12A4_uc010ceu.2_Missense_Mutation_p.D315N|SLC12A4_uc010vkh.1_Missense_Mutation_p.D290N|SLC12A4_uc010vki.1_Missense_Mutation_p.D321N|SLC12A4_uc010vkj.1_Missense_Mutation_p.D323N|SLC12A4_uc002eva.2_Missense_Mutation_p.D321N|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 321 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCACAGATGTCAAACTGGTCC 0.587 NaN 0 0 0 1 0 27 44 SLC7A6OS 84138 broad.mit.edu 37 16 68344264 68344264 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:68344264C>G uc002evw.1 - 2 464 c.445G>C c.(445-447)GAA>CAA p.E149Q PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 149 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) GAGGCGGCTTCAGGTTCTCCC 0.612 NaN 0 0 0 1 0 23 19 PRMT7 54496 broad.mit.edu 37 16 68380131 68380131 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:68380131G>C uc002evy.1 + 11 1415 c.1139G>C c.(1138-1140)GGA>GCA p.G380A PRMT7_uc002evx.1_Missense_Mutation_p.G380A|PRMT7_uc010vlg.1_Missense_Mutation_p.G330A|PRMT7_uc002evz.1_Missense_Mutation_p.G226A NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 380 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CCTCGGTTTGGAGAGATCAAT 0.562 NaN 0 0 0 1 0 49 63 CDH3 1001 broad.mit.edu 37 16 68721629 68721629 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:68721629C>T uc002ewf.2 + 12 2917 c.1785C>T c.(1783-1785)GTC>GTT p.V595V CDH3_uc010vli.1_Silent_p.V540V NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 595 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CGGCAGAGGTCAACGAGGAAG 0.602 NaN 0 0 0 1 0 29 42 FA2H 79152 broad.mit.edu 37 16 74761154 74761154 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:74761154G>C uc002fde.1 - 3 562 c.494C>G c.(493-495)TCT>TGT p.S165C FA2H_uc010vmy.1_Intron NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 165 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity 0 GACAGTCTTAGAGAGGCCCTC 0.587 NaN 0 0 0 1 0 25 38 LDHD 197257 broad.mit.edu 37 16 75150574 75150574 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:75150574C>G uc002fdm.2 - 1 92 c.45G>C c.(43-45)TGG>TGC p.W15C LDHD_uc002fdn.2_Missense_Mutation_p.W15C NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 15 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 AGTAGCCCCTCCAGGGGAACA 0.627 NaN 0 0 0 1 0 70 112 TERF2IP 54386 broad.mit.edu 37 16 75690294 75690294 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:75690294C>A uc002fet.1 + 3 1082 c.985C>A c.(985-987)CTA>ATA p.L329I NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting 329 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 TAACTTGGATCTATCAACAGT 0.388 NaN 1 0 1.4958e-60 1 1.60582e-60 93 168 CENPN 55839 broad.mit.edu 37 16 81053723 81053723 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:81053723G>C uc002ffx.2 + 6 1163 c.373G>C c.(373-375)GAA>CAA p.E125Q CENPN_uc002ffw.3_Missense_Mutation_p.E125Q|CENPN_uc010vnl.1_Missense_Mutation_p.E125Q|CENPN_uc010vnm.1_Missense_Mutation_p.E105Q|CENPN_uc002ffy.3_Missense_Mutation_p.E125Q NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 125 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 CAGCTTCAGAGAAACTGAGGA 0.423 NaN 0 0 0 1 0 30 33 BCMO1 53630 broad.mit.edu 37 16 81303925 81303925 + Missense_Mutation SNP C C G rs141341532 byFrequency TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:81303925C>G uc002fgn.1 + 7 1223 c.1005C>G c.(1003-1005)TTC>TTG p.F335L BCMO1_uc010vnp.1_Missense_Mutation_p.F266L NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 335 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 ACCAGCTCTTCTACCTGGCCA 0.577 NaN 0 0 0 1 0 46 71 ZCCHC14 23174 broad.mit.edu 37 16 87448115 87448115 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:87448115G>A uc002fjz.1 - 10 1124 c.1097C>T c.(1096-1098)TCG>TTG p.S366L ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S142L NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 366 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) CGGCGGGGCCGAGGGGTTCAG 0.637 NaN 0 0 0 1 0 24 31 KLHDC4 54758 broad.mit.edu 37 16 87741967 87741967 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:87741967G>A uc002fki.2 - 11 1599 c.1553C>T c.(1552-1554)GCG>GTG p.A518V LOC100129637_uc002fkg.2_5'Flank|LOC100129637_uc002fke.2_5'Flank|KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Missense_Mutation_p.R203W|KLHDC4_uc002fkj.2_Missense_Mutation_p.A487V|KLHDC4_uc002fkk.2_Missense_Mutation_p.A337V|KLHDC4_uc002fkl.2_Missense_Mutation_p.A461V NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 518 pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) TCAGTCCTCCGCACCGCTCTC 0.622 NaN 0 0 0 1 0 59 90 ZC3H18 124245 broad.mit.edu 37 16 88677720 88677720 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:88677720C>G uc002fky.2 + 8 1451 c.1251C>G c.(1249-1251)CGC>CGG p.R417R ZC3H18_uc010voy.1_Silent_p.R300R|ZC3H18_uc010voz.1_Silent_p.R441R|ZC3H18_uc010chw.2_RNA NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 417 Potential. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) agcgcgagcgcgagcgggagc 0 NaN 0 0 0 1 0 2 5 CDT1 81620 broad.mit.edu 37 16 88870299 88870299 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:88870299C>T uc002flu.2 + 1 114 c.60C>T c.(58-60)ATC>ATT p.I20I NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 20 PIP-box K+4 motif. DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) ccccccgcATCGCGCCGCCCA 0.572 NaN 0 0 0 1 0 13 23 ANKRD11 29123 broad.mit.edu 37 16 89350394 89350394 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr16:89350394G>C uc002fmx.1 - 9 3017 c.2556C>G c.(2554-2556)TTC>TTG p.F852L ANKRD11_uc002fmy.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnc.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnb.1_Missense_Mutation_p.F809L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 852 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTCCCCTTTGAAATCAAAGG 0.488 NaN 0 0 0 1 0 48 59 MYO1C 4641 broad.mit.edu 37 17 1378124 1378124 + Silent SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:1378124G>T uc002fsp.2 - 16 1918 c.1698C>A c.(1696-1698)CTC>CTA p.L566L MYO1C_uc002fsn.2_Silent_p.L547L|MYO1C_uc002fso.2_Silent_p.L531L|MYO1C_uc010vqj.1_Silent_p.L531L|MYO1C_uc010vqk.1_Silent_p.L542L NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 566 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTTCCGGAAGAGAAGGTCAT 0.637 NaN 1 0 2.17126e-26 1 2.29479e-26 42 7 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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) ACACGCACCTCAAAGCTGTTC 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 1 0 18 2 C17orf59 54785 broad.mit.edu 37 17 8092765 8092765 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:8092765G>C uc010vut.1 - 1 800 c.694C>G c.(694-696)CCA>GCA p.P232A NM_017622 NP_060092 Q96GS4 CQ059_HUMAN hypothetical protein LOC54785 232 Pro-rich. 0 GGCGGGGGTGGAGGCGCGCCG 0.682 NaN 0 0 0 1 0 6 2 RAI1 10743 broad.mit.edu 37 17 17701534 17701534 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:17701534G>A uc002grm.2 + 3 5741 c.5272G>A c.(5272-5274)GAC>AAC p.D1758N RAI1_uc002grn.1_Missense_Mutation_p.D1758N NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1758 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCCCAGGCCTGACGGCCCAGC 0.697 NaN 0 0 0 1 0 9 0 TOP3A 7156 broad.mit.edu 37 17 18188594 18188594 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:18188594G>C uc002gsx.1 - 15 1968 c.1739C>G c.(1738-1740)TCT>TGT p.S580C TOP3A_uc010cpz.1_Missense_Mutation_p.S32C|TOP3A_uc010vxr.1_Missense_Mutation_p.S110C|TOP3A_uc002gsw.1_Missense_Mutation_p.S32C|TOP3A_uc010vxs.1_Missense_Mutation_p.S478C NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 580 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GTCAGGCTTAGACATTTCATA 0.522 NaN 0 0 0 1 0 42 8 EFCAB5 374786 broad.mit.edu 37 17 28296332 28296332 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:28296332G>A uc002het.2 + 4 906 c.714G>A c.(712-714)ATG>ATA p.M238I EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.M182I|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.M117I|EFCAB5_uc010csf.2_Missense_Mutation_p.M117I NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 238 calcium ion binding ovary(1)|skin(1) 2 AGAGGTTGATGAAAGAAGTCA 0.358 NaN 0 0 0 1 0 44 3 NF1 4763 broad.mit.edu 37 17 29554250 29554250 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:29554250C>T uc002hgg.2 + 19 2599 c.2266C>T c.(2266-2268)CAG>TAG p.Q756* NF1_uc002hgh.2_Nonsense_Mutation_p.Q756*|NF1_uc010csn.1_Nonsense_Mutation_p.Q616*|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 756 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2)|p.Q756*(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCAGCACTTCAGAAAAGAGT 0.517 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 1 0 172 18 SUZ12 23512 broad.mit.edu 37 17 30323823 30323823 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:30323823G>C uc002hgs.2 + 15 2023 c.1801G>C c.(1801-1803)GAA>CAA p.E601Q SUZ12_uc002hgt.2_Missense_Mutation_p.E578Q NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 601 VEFS-box. negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CCAGCAAATTGAAGAGTTTTC 0.299 NaN T JAZF1 endometrial stromal tumours 0 0 0 1 0 7 62 GPR179 440435 broad.mit.edu 37 17 36485624 36485624 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:36485624C>T uc002hpz.2 - 11 3849 c.3828G>A c.(3826-3828)TCG>TCA p.S1276S NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1276 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTAGTGCCCTCGACTCTGGGG 0.562 NaN 0 0 0 1 0 80 2 GPR179 440435 broad.mit.edu 37 17 36486316 36486316 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:36486316C>T uc002hpz.2 - 11 3157 c.3136G>A c.(3136-3138)GAG>AAG p.E1046K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1046 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCGTCCATCTCATTCTCCCCA 0.597 NaN 0 0 0 1 0 87 7 GPR179 440435 broad.mit.edu 37 17 36486596 36486596 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:36486596C>T uc002hpz.2 - 11 2877 c.2856G>A c.(2854-2856)AGG>AGA p.R952R NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 952 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GAGATAGCATCCTTGGCTCTC 0.468 NaN 0 0 0 1 0 19 2 GPR179 440435 broad.mit.edu 37 17 36487082 36487082 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:36487082C>T uc002hpz.2 - 11 2391 c.2370G>A c.(2368-2370)CTG>CTA p.L790L NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 790 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCTTCCTCCTCAGCAGTGAGT 0.657 NaN 0 0 0 1 0 17 2 KRTAP4-12 83755 broad.mit.edu 37 17 39279805 39279805 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:39279805G>A uc002hwa.2 - 1 615 c.570C>T c.(568-570)TGC>TGT p.C190C NM_031854 NP_114060 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 190 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGGGGCGGGGGCAGGTGGAGA 0.478 NaN 0 0 0 1 0 3 36 BRCA1 672 broad.mit.edu 37 17 41245834 41245834 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:41245834C>T uc002icq.2 - 10 1946 c.1714G>A c.(1714-1716)GAA>AAA p.E572K BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E501K|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E525K|BRCA1_uc002ict.2_Missense_Mutation_p.E572K|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E572K|BRCA1_uc002ide.1_Missense_Mutation_p.E403K|BRCA1_uc010cyy.1_Missense_Mutation_p.E572K|BRCA1_uc010whs.1_Missense_Mutation_p.E572K|BRCA1_uc010cyz.2_Missense_Mutation_p.E525K|BRCA1_uc010cza.2_Missense_Mutation_p.E546K|BRCA1_uc010wht.1_Missense_Mutation_p.E276K NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 572 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCGAGTGATTCTATTGGGTTA 0.338 NaN D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 0 0 0 1 0 90 4 TEX14 56155 broad.mit.edu 37 17 56646611 56646611 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:56646611G>C uc010dcz.1 - 27 4084 c.3966C>G c.(3964-3966)TTC>TTG p.F1322L TEX14_uc002iwr.1_Missense_Mutation_p.F1316L|TEX14_uc002iws.1_Missense_Mutation_p.F1276L|TEX14_uc010dda.1_Missense_Mutation_p.F1056L NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1322 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATGCTGTGAGAAGGCTTCTA 0.418 NaN 0 0 0 1 0 65 13 HELZ 9931 broad.mit.edu 37 17 65141996 65141996 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:65141996C>G uc010wqk.1 - 21 2822 c.2635G>C c.(2635-2637)GAG>CAG p.E879Q HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E878Q NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TAGAAAAGCTCAGAGGTATAA 0.373 NaN 0 0 0 1 0 20 35 COG1 9382 broad.mit.edu 37 17 71197805 71197805 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:71197805C>G uc002jjg.2 + 7 1875 c.1839C>G c.(1837-1839)TTC>TTG p.F613L COG1_uc002jjh.2_Missense_Mutation_p.F613L|COG1_uc002jjf.1_Missense_Mutation_p.F613L NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 613 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) CAGTTCTTTTCATGGCCAGAC 0.547 NaN 0 0 0 1 0 57 6 MIF4GD 57409 broad.mit.edu 37 17 73262901 73262901 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:73262901C>G uc002jnr.2 - 6 718 c.589G>C c.(589-591)GAG>CAG p.E197Q MIF4GD_uc002jno.2_Missense_Mutation_p.E238Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E231Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E238Q A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 197 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TCAATGATCTCCAGCAGCAGC 0.592 NaN 0 0 0 1 0 106 7 ACOX1 51 broad.mit.edu 37 17 73949633 73949633 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:73949633G>C uc002jqf.2 - 7 1133 c.843C>G c.(841-843)GTC>GTG p.V281V ACOX1_uc010wsq.1_Silent_p.V243V|ACOX1_uc002jqe.2_Silent_p.V281V|ACOX1_uc010wsr.1_Silent_p.V213V NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 281 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 GGAAGGACCTGACAAACACCA 0.527 NaN 0 0 0 1 0 94 14 SRP68 6730 broad.mit.edu 37 17 74057619 74057619 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:74057619C>G uc002jqk.1 - 5 633 c.598G>C c.(598-600)GAA>CAA p.E200Q SRP68_uc010wsu.1_Missense_Mutation_p.E99Q|SRP68_uc002jql.1_Missense_Mutation_p.E162Q NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 200 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 TCTTGATGTTCAAAACGTAGC 0.433 NaN 0 0 0 1 0 76 8 MGAT5B 146664 broad.mit.edu 37 17 74900408 74900408 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:74900408C>T uc002jti.2 + 5 730 c.627C>T c.(625-627)CTC>CTT p.L209L MGAT5B_uc002jth.2_Silent_p.L198L NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 198 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GCTCCTTCCTCATCTACCTCA 0.667 NaN 0 0 0 1 0 19 1 SYNGR2 9144 broad.mit.edu 37 17 76167833 76167833 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:76167833C>T uc002juu.1 + 4 518 c.491C>T c.(490-492)TCC>TTC p.S164F SYNGR2_uc002jut.2_Missense_Mutation_p.P194S|SYNGR2_uc002juv.1_Silent_p.L117L|SYNGR2_uc010dhi.1_RNA NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 164 MARVEL.|Helical; (Potential). integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GTGCTGGCCTCCCTGGCCTAC 0.652 NaN 0 0 0 1 0 94 15 LPIN2 9663 broad.mit.edu 37 18 2937747 2937747 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:2937747C>G uc002klo.2 - 7 1350 c.1111G>C c.(1111-1113)GAG>CAG p.E371Q NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 371 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GAGGGCGCCTCCGCTAAGGCT 0.483 NaN 0 0 0 1 0 45 74 LAMA1 284217 broad.mit.edu 37 18 6961983 6961983 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:6961983G>C uc002knm.2 - 52 7507 c.7413C>G c.(7411-7413)CTC>CTG p.L2471L LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Silent_p.L1947L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2471 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAATTTCTGAGTAAGTCAA 0.403 NaN 0 0 0 1 0 83 103 PTPRM 5797 broad.mit.edu 37 18 8244134 8244134 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:8244134G>C uc002knn.3 + 15 2882 c.2379G>C c.(2377-2379)AAG>AAC p.K793N PTPRM_uc010dkv.2_Missense_Mutation_p.K793N|PTPRM_uc010wzl.1_Missense_Mutation_p.K580N NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 793 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CAATGGACAAGAGCTATGCTG 0.463 NaN 0 0 0 1 0 74 90 NPC1 4864 broad.mit.edu 37 18 21120457 21120457 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:21120457C>G uc002kum.3 - 17 2833 c.2559G>C c.(2557-2559)CTG>CTC p.L853L NPC1_uc010xaz.1_Silent_p.L586L|NPC1_uc010xba.1_Silent_p.L698L NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 853 Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTACTTTGTTCAGGACTGCGA 0.358 NaN 0 0 0 1 0 22 51 OSBPL1A 114876 broad.mit.edu 37 18 21914240 21914240 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:21914240C>T uc002kve.2 - 6 623 c.449G>A c.(448-450)AGA>AAA p.R150K NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 150 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTGCCTTCTCTTGCTGCTGC 0.363 NaN 0 0 0 1 0 30 51 CHST9 83539 broad.mit.edu 37 18 24496276 24496276 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:24496276C>T uc002kwd.2 - 5 1477 c.1279G>A c.(1279-1281)GAC>AAC p.D427N C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D342N|CHST9_uc002kwe.2_Missense_Mutation_p.D427N NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 427 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) TAATAAAAGTCATAGATTAAT 0.313 NaN 0 0 0 1 0 30 54 C18orf34 374864 broad.mit.edu 37 18 30554571 30554571 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:30554571C>T uc002kxn.2 - 21 2605 c.2463G>A c.(2461-2463)ATG>ATA p.M821I C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.M285I|C18orf34_uc010xbr.1_Missense_Mutation_p.M845I|C18orf34_uc010dmf.1_Missense_Mutation_p.M141I|C18orf34_uc002kxo.2_Missense_Mutation_p.M783I|C18orf34_uc002kxp.2_Missense_Mutation_p.M821I NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 821 ovary(1) 1 TGGCCAGCCTCATCTGGCTGA 0.493 NaN 0 0 0 1 0 51 45 C18orf34 374864 broad.mit.edu 37 18 30791874 30791874 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:30791874G>C uc002kxn.2 - 19 2366 c.2224C>G c.(2224-2226)CTT>GTT p.L742V C18orf34_uc010dme.1_Missense_Mutation_p.L256V|C18orf34_uc010xbr.1_Missense_Mutation_p.L742V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L704V|C18orf34_uc002kxp.2_Missense_Mutation_p.L742V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 742 ovary(1) 1 GTATCTTGAAGAGTTTTTTGT 0.328 NaN 0 0 0 1 0 22 29 PHLPP1 23239 broad.mit.edu 37 18 60645778 60645778 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:60645778G>T uc002lis.2 + 18 2910 c.2732G>T c.(2731-2733)AGT>ATT p.S911I NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1423 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 GTGCAGCTCAGTGTCACTGAG 0.632 NaN 1 0 9.05144e-12 1 9.29403e-12 10 13 ZNF236 7776 broad.mit.edu 37 18 74583695 74583695 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:74583695G>A uc002lmi.2 + 5 773 c.575G>A c.(574-576)AGA>AAA p.R192K ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R192K NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 192 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AATATCGACAGAAGTGGATTC 0.418 NaN 0 0 0 1 0 70 86 ZFR2 23217 broad.mit.edu 37 19 3834946 3834946 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:3834946C>T uc002lyw.2 - 2 101 c.89G>A c.(88-90)GGG>GAG p.G30E ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 30 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) ATAGCTGGCCCCCACAGTGGG 0.637 NaN 0 0 0 1 0 11 5 TMEM146 257062 broad.mit.edu 37 19 5745940 5745940 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:5745940C>G uc002mda.2 + 9 735 c.674C>G c.(673-675)TCA>TGA p.S225* TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 225 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCAAGTACTCAGATCACCCC 0.468 NaN 0 0 0 1 0 85 249 NDUFA7 4701 broad.mit.edu 37 19 8386222 8386222 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:8386222G>A uc002mjm.1 - 1 59 c.21C>T c.(19-21)CTC>CTT p.L7L RPS28_uc002mjn.2_5'Flank NM_005001 NP_004992 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 7 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) GCCGCTGGATGAGACGGGTGG 0.716 NaN 0 0 0 1 0 4 4 MUC16 94025 broad.mit.edu 37 19 9067806 9067806 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:9067806G>C uc002mkp.2 - 3 19844 c.19640C>G c.(19639-19641)TCT>TGT p.S6547C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6549 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 CACTAGGCCAGAGGTGGGGAG 0.488 NaN 0 0 0 1 0 28 17 MUC16 94025 broad.mit.edu 37 19 9071775 9071775 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:9071775C>G uc002mkp.2 - 3 15875 c.15671G>C c.(15670-15672)AGT>ACT p.S5224T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5226 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 GACCCCTGTACTGGAGACCTC 0.507 NaN 0 0 0 1 0 88 53 YIPF2 78992 broad.mit.edu 37 19 11034009 11034009 + Silent SNP G G A rs151256467 byFrequency TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:11034009G>A uc002mqb.2 - 9 1033 c.909C>T c.(907-909)ATC>ATT p.I303I YIPF2_uc002mqc.2_Silent_p.I303I NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 303 Lumenal (Potential). integral to membrane|transport vesicle 0 GGGACAGCGCGATGTTTGAGG 0.627 NaN 0 0 0 1 0 47 140 ZNF700 90592 broad.mit.edu 37 19 12060829 12060829 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:12060829C>G uc002msu.2 + 4 2116 c.1990C>G c.(1990-1992)CAA>GAA p.Q664E ZNF700_uc010xme.1_Missense_Mutation_p.Q682E|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 664 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTCTTCTTTTCAAATACATGA 0.398 NaN 0 0 0 1 0 26 27 LPHN1 22859 broad.mit.edu 37 19 14273746 14273746 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:14273746C>G uc010xnn.1 - 6 1178 c.882G>C c.(880-882)CAG>CAC p.Q294H LPHN1_uc010xno.1_Missense_Mutation_p.Q289H|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 294 Olfactomedin-like.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 AGGGGTTCAGCTGGCTCACCA 0.632 NaN 0 0 0 1 0 11 36 JAK3 3718 broad.mit.edu 37 19 17953847 17953847 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:17953847C>T uc002nhn.3 - 5 655 c.555G>A c.(553-555)CTG>CTA p.L185L JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Silent_p.L185L|JAK3_uc010xpx.1_Silent_p.L185L|JAK3_uc010xpy.1_3'UTR NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 185 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TGACAGTCTTCAGCAGCTCTC 0.672 2 Mis acute megakaryocytic leukemia| 0 0 0 1 0 42 28 UPF1 5976 broad.mit.edu 37 19 18968269 18968269 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:18968269G>C uc002nkg.2 + 15 2417 c.2142G>C c.(2140-2142)CGG>CGC p.R714R UPF1_uc002nkf.2_Silent_p.R703R|UPF1_uc002nkh.2_5'Flank NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 714 R->A: Impairs ATPase activity and ATP binding. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 TCCAGTACCGGATGCACCCTG 0.647 NaN 0 0 0 1 0 22 16 ZNF626 199777 broad.mit.edu 37 19 20807417 20807417 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:20807417C>G uc002npb.1 - 4 1416 c.1266G>C c.(1264-1266)GAG>GAC p.E422D ZNF626_uc002npc.1_Missense_Mutation_p.E346D NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TGTAGGGTCTCTCTCCAGTAT 0.378 NaN 0 0 0 1 0 46 35 ZNF91 7644 broad.mit.edu 37 19 23544674 23544674 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:23544674C>G uc002nre.2 - 4 1220 c.1107G>C c.(1105-1107)AAG>AAC p.K369N ZNF91_uc010xrj.1_Missense_Mutation_p.K337N NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 369 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TATGAGTTATCTTATGATTAG 0.358 NaN 0 0 0 1 0 15 45 ZNF599 148103 broad.mit.edu 37 19 35251122 35251122 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:35251122C>G uc010edn.1 - 4 972 c.584G>C c.(583-585)AGG>ACG p.R195T ZNF599_uc010edm.1_Missense_Mutation_p.R158T NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGGGTTATTCCTTGCATCAGT 0.493 NaN 0 0 0 1 0 37 83 ZNF599 148103 broad.mit.edu 37 19 35251243 35251243 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:35251243C>T uc010edn.1 - 4 851 c.463G>A c.(463-465)GAT>AAT p.D155N ZNF599_uc010edm.1_Missense_Mutation_p.D118N NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TCCAAATCATCATGTTTATAA 0.438 NaN 0 0 0 1 0 34 127 ZNF599 148103 broad.mit.edu 37 19 35251274 35251274 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:35251274C>G uc010edn.1 - 4 820 c.432G>C c.(430-432)GAG>GAC p.E144D ZNF599_uc010edm.1_Missense_Mutation_p.E107D NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CAGGGCATATCTCTTTGTGGG 0.448 NaN 0 0 0 1 0 44 161 GRAMD1A 57655 broad.mit.edu 37 19 35502453 35502453 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:35502453G>C uc010xse.1 + 7 738 c.601G>C c.(601-603)GAA>CAA p.E201Q GRAMD1A_uc002nxi.1_Missense_Mutation_p.E288Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.E194Q|GRAMD1A_uc002nxl.2_Missense_Mutation_p.L4F|GRAMD1A_uc010xsf.1_Missense_Mutation_p.E206Q|GRAMD1A_uc002nxm.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 201 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGCACTGCTTGAAAAGGTGGG 0.627 NaN 0 0 0 1 0 30 81 ZNF781 163115 broad.mit.edu 37 19 38161042 38161042 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:38161042C>G uc002ogy.2 - 4 750 c.8G>C c.(7-9)AGA>ACA p.R3T ZNF781_uc002ogz.2_5'UTR NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATTGCATTTCTTTGCATTAA 0.343 NaN 0 0 0 1 0 27 81 SERTAD1 29950 broad.mit.edu 37 19 40929372 40929372 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:40929372G>A uc002ont.3 - 2 241 c.82C>T c.(82-84)CCT>TCT p.P28S NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 28 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGTGGCCAGGATCTAGCCAC 0.567 NaN 0 0 0 1 0 48 29 CYP2F1 1572 broad.mit.edu 37 19 41628036 41628036 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:41628036G>C uc002opu.1 + 6 876 c.820G>C c.(820-822)GAG>CAG p.E274Q CYP2F1_uc010xvw.1_Missense_Mutation_p.E60Q|CYP2F1_uc010xvv.1_Missense_Mutation_p.E274Q|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 274 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CAAGATGGCAGAGGTAATCCC 0.602 NaN 0 0 0 1 0 32 21 PLAUR 5329 broad.mit.edu 37 19 44156432 44156432 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:44156432G>C uc002oxf.1 - 6 929 c.699C>G c.(697-699)TTC>TTG p.F233L PLAUR_uc002oxd.1_Missense_Mutation_p.F233L|PLAUR_uc002oxe.1_Missense_Mutation_p.F228L|PLAUR_uc002oxg.1_Missense_Mutation_p.F188L NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 233 UPAR/Ly6 3. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) AGTCAATGAGGAAAGTCTCTT 0.572 NaN OREG0025532 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 24 62 PVR 5817 broad.mit.edu 37 19 45164564 45164564 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:45164564G>C uc002ozm.2 + 7 1455 c.1156G>C c.(1156-1158)GAG>CAG p.E386Q PVR_uc010xxb.1_Missense_Mutation_p.E333Q|PVR_uc010xxc.1_Missense_Mutation_p.E341Q|PVR_uc002ozn.2_Missense_Mutation_p.E331Q NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 386 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) CCCAGGTACAGAGCATGCCAG 0.547 NaN 0 0 0 1 0 41 33 PRKD2 25865 broad.mit.edu 37 19 47181774 47181774 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:47181774C>T uc002pfh.2 - 17 2559 c.2217G>A c.(2215-2217)GTG>GTA p.V739V PRKD2_uc002pfd.2_Silent_p.V113V|PRKD2_uc010eks.2_Silent_p.V142V|PRKD2_uc010ekt.2_Silent_p.V6V|PRKD2_uc002pfe.2_Silent_p.V259V|PRKD2_uc002pff.2_Silent_p.V259V|PRKD2_uc002pfg.2_Silent_p.V582V|PRKD2_uc002pfi.2_Silent_p.V739V|PRKD2_uc002pfj.2_Silent_p.V739V|PRKD2_uc010xye.1_Silent_p.V739V|PRKD2_uc002pfk.2_Silent_p.V582V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 739 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CGTACATGATCACGCCCACTG 0.627 NaN 0 0 0 1 0 57 56 PRKD2 25865 broad.mit.edu 37 19 47204090 47204090 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:47204090C>T uc002pfh.2 - 8 1429 c.1087G>A c.(1087-1089)GAG>AAG p.E363K PRKD2_uc002pfg.2_Missense_Mutation_p.E206K|PRKD2_uc002pfi.2_Missense_Mutation_p.E363K|PRKD2_uc002pfj.2_Missense_Mutation_p.E363K|PRKD2_uc010xye.1_Missense_Mutation_p.E363K|PRKD2_uc002pfk.2_Missense_Mutation_p.E206K NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 363 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity p.E363E(1) ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TCCTCCTCCTCACTGGCGTGG 0.587 NaN 0 0 0 1 0 35 34 CYTH2 9266 broad.mit.edu 37 19 48973714 48973714 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:48973714G>A uc002pjj.3 + 2 424 c.124G>A c.(124-126)GAA>AAA p.E42K uc002pjg.2_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.E42K|CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 42 Potential. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 GGAGCTCAGTGAAGCCATGAG 0.677 NaN 0 0 0 1 0 18 80 LMTK3 114783 broad.mit.edu 37 19 49000753 49000753 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:49000753G>A uc002pjk.2 - 12 3660 c.3660C>T c.(3658-3660)CTC>CTT p.L1220L NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CGTCTCCGCTGAGTGCCGTGT 0.716 NaN 0 0 0 1 0 8 42 BCAT2 587 broad.mit.edu 37 19 49300454 49300454 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:49300454C>G uc002pkr.2 - 7 869 c.832G>C c.(832-834)GAT>CAT p.D278H BCAT2_uc002pkp.2_Missense_Mutation_p.D238H|BCAT2_uc002pkq.3_Missense_Mutation_p.D238H|BCAT2_uc002pks.2_Missense_Mutation_p.D238H|BCAT2_uc002pkt.2_Missense_Mutation_p.D186H|BCAT2_uc010emh.1_Missense_Mutation_p.D278H|BCAT2_uc010emi.1_Missense_Mutation_p.D186H NM_001190 NP_001181 O15382 BCAT2_HUMAN branched chain aminotransferase 2, mitochondrial 278 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity ovary(1) 1 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TTACCCCCATCTTCGTGGGTC 0.607 NaN 0 0 0 1 0 16 17 ALDH16A1 126133 broad.mit.edu 37 19 49965030 49965030 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:49965030G>A uc002pnt.2 + 6 848 c.732G>A c.(730-732)CGG>CGA p.R244R ALDH16A1_uc010yar.1_Silent_p.R244R|ALDH16A1_uc010yas.1_Silent_p.R79R|ALDH16A1_uc010yat.1_Silent_p.R81R NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 244 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CTGGAATCCGGAAGGTGGCCT 0.711 NaN 0 0 0 1 0 6 17 ALDH16A1 126133 broad.mit.edu 37 19 49965915 49965915 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:49965915G>A uc002pnt.2 + 8 1117 c.1001G>A c.(1000-1002)CGA>CAA p.R334Q ALDH16A1_uc010yar.1_Missense_Mutation_p.R283Q|ALDH16A1_uc010yas.1_Missense_Mutation_p.R169Q|ALDH16A1_uc010yat.1_Missense_Mutation_p.R171Q NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 334 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGGAGTGGCCGAGGGCTGGAT 0.672 NaN 0 0 0 1 0 31 65 ZNF616 90317 broad.mit.edu 37 19 52618746 52618746 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:52618746G>A uc002pym.2 - 4 1954 c.1671C>T c.(1669-1671)GTC>GTT p.V557V ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 557 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATTGACTGAAGACCTTGCCAC 0.438 NaN 0 0 0 1 0 58 34 ZNF321 399669 broad.mit.edu 37 19 53432634 53432634 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:53432634G>A uc010eqj.2 - 4 346 c.176C>T c.(175-177)TCA>TTA p.S59L ZNF321_uc002qaj.1_Missense_Mutation_p.S6L|ZNF321_uc002qak.1_Missense_Mutation_p.S59L NM_203307 NP_976052 zinc finger protein 321 0 GBM - Glioblastoma multiforme(134;0.0305) CGCTGTGGATGAGAACTCCTT 0.353 NaN 0 0 0 1 0 104 88 TNNT1 7138 broad.mit.edu 37 19 55645272 55645272 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:55645272G>A uc002qjb.3 - 13 863 c.774C>T c.(772-774)ATC>ATT p.I258I TNNT1_uc002qiz.3_Silent_p.I172I|TNNT1_uc002qja.3_Silent_p.I172I|TNNT1_uc002qjc.3_Silent_p.I242I|TNNT1_uc002qje.3_Silent_p.I231I|TNNT1_uc002qjd.3_Silent_p.I231I NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 258 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) GGGCGTGGCTGATGCGGTTGT 0.627 NaN 0 0 0 1 0 50 30 C19orf51 352909 broad.mit.edu 37 19 55672758 55672758 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:55672758C>A uc002qji.1 - 7 726 c.692G>T c.(691-693)CGA>CTA p.R231L C19orf51_uc002qjh.1_Missense_Mutation_p.R46L|C19orf51_uc002qjj.1_Missense_Mutation_p.R278L|C19orf51_uc002qjk.1_Missense_Mutation_p.R177L|C19orf51_uc002qjl.1_Missense_Mutation_p.R299L Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 231 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCGCCAGCGTCGGAACTCCTG 0.587 NaN 1 0 0.00307968 1 0.00309483 6 16 NLRP8 126205 broad.mit.edu 37 19 56466732 56466732 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:56466732C>T uc002qmh.2 + 3 1379 c.1308C>T c.(1306-1308)CCC>CCT p.P436P NLRP8_uc010etg.2_Silent_p.P436P NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 436 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCTTGTTTCCCACCAGAGCTG 0.488 NaN 0 0 0 1 0 65 42 ZNF582 147948 broad.mit.edu 37 19 56895395 56895395 + Nonsense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:56895395G>C uc002qmz.1 - 5 1550 c.1391C>G c.(1390-1392)TCA>TGA p.S464* ZNF582_uc002qmy.2_Nonsense_Mutation_p.S495* NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) AACGGTAGTTGAATCATGACT 0.363 NaN 0 0 0 1 0 23 108 ZNF470 388566 broad.mit.edu 37 19 57088680 57088680 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:57088680C>G uc002qnl.3 + 6 1559 c.883C>G c.(883-885)CAG>GAG p.Q295E ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 295 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AGCCTTCAGCCAGAATGCTCA 0.448 NaN 0 0 0 1 0 58 50 MZF1 7593 broad.mit.edu 37 19 59073565 59073565 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:59073565C>T uc002qto.2 - 6 2640 c.2079G>A c.(2077-2079)CGG>CGA p.R693R LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.R693R NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 693 C2H2-type 12. viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TGAGCGTGGGCCGCTGGCGGA 0.667 NaN 0 0 0 1 0 7 26 CPSF3 51692 broad.mit.edu 37 2 9583767 9583767 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:9583767C>T uc002qzo.1 + 10 1254 c.1219C>T c.(1219-1221)CGT>TGT p.R407C CPSF3_uc010ewx.1_Intron|CPSF3_uc002qzp.1_Missense_Mutation_p.R370C NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 407 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TGAATTTATTCGTGCTTTGAA 0.388 NaN 0 0 0 1 0 59 113 NTSR2 23620 broad.mit.edu 37 2 11802148 11802148 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:11802148C>T uc002rbq.3 - 2 917 c.843G>A c.(841-843)GTG>GTA p.V281V NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 281 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CTTTATGTCTCACCAGGCTGA 0.557 NaN 0 0 0 1 0 68 81 C2orf39 92749 broad.mit.edu 37 2 26624903 26624903 + Nonsense_Mutation SNP G G T rs149082901 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:26624903G>T uc002rhg.2 + 1 120 c.46G>T c.(46-48)GAG>TAG p.E16* C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 16 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACGTGGACGAGCACTTGTC 0.677 NaN 1 0 2.89027e-11 1 2.94798e-11 20 28 EMILIN1 11117 broad.mit.edu 37 2 27302012 27302012 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:27302012C>G uc002rii.3 + 1 507 c.79C>G c.(79-81)CGA>GGA p.R27G EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 27 cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACCCTCCTCGAGGTTTCAG 0.716 NaN 0 0 0 1 0 12 18 C2orf53 339779 broad.mit.edu 37 2 27360541 27360541 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:27360541C>T uc002rjb.2 - 3 1237 c.657G>A c.(655-657)CTG>CTA p.L219L PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 219 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGGTGCCCCAGCTGGACCA 0.662 NaN 0 0 0 1 0 36 33 ZNF513 130557 broad.mit.edu 37 2 27600419 27600419 + Nonsense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:27600419G>T uc002rkk.2 - 4 1819 c.1619C>A c.(1618-1620)TCA>TAA p.S540* ZNF513_uc002rkj.2_Nonsense_Mutation_p.S478* NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 540 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCAGGATGAGTCTGTGTG 0.607 NaN 1 0 8.16277e-20 1 8.48098e-20 32 56 BIRC6 57448 broad.mit.edu 37 2 32716581 32716581 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:32716581C>G uc010ezu.2 + 44 8430 c.8296C>G c.(8296-8298)CTT>GTT p.L2766V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2766 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AGTGAAATTTCTTTCTGGCAC 0.398 NaN 0 0 0 1 0 72 101 BIRC6 57448 broad.mit.edu 37 2 32740370 32740370 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:32740370G>C uc010ezu.2 + 55 11016 c.10882G>C c.(10882-10884)GAC>CAC p.D3628H NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3628 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACAATTACTAGACTCAGGTTT 0.418 NaN 0 0 0 1 0 38 47 SLC8A1 6546 broad.mit.edu 37 2 40656481 40656481 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:40656481C>A uc002rrx.2 - 1 964 c.940G>T c.(940-942)GAG>TAG p.E314* SLC8A1_uc002rry.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E314*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E314* NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 314 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGGTCCCTCTCATCCACCTCC 0.413 NaN 1 0 1.46924e-35 1 1.56091e-35 83 129 SPTBN1 6711 broad.mit.edu 37 2 54859746 54859746 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:54859746G>C uc002rxu.2 + 17 3857 c.3608G>C c.(3607-3609)GGA>GCA p.G1203A SPTBN1_uc002rxx.2_Missense_Mutation_p.G1190A NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1203 Spectrin 9. 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) ACCTTGGAAGGAGCTGAAGCA 0.458 NaN 0 0 0 1 0 38 47 PUS10 150962 broad.mit.edu 37 2 61175207 61175207 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:61175207G>A uc010fci.2 - 16 1482 c.1422C>T c.(1420-1422)TTC>TTT p.F474F PUS10_uc002sao.2_Silent_p.F474F|PUS10_uc010ypk.1_Silent_p.F251F NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 474 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) AGTGGAGGCGGAAGTGGTGCT 0.547 NaN 0 0 0 1 0 116 130 MPHOSPH10 10199 broad.mit.edu 37 2 71360405 71360405 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:71360405G>A uc002sht.1 + 2 819 c.467G>A c.(466-468)AGC>AAC p.S156N MPHOSPH10_uc010feb.1_Missense_Mutation_p.S156N NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 156 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 GAAAACTCAAGCAAATCTGAT 0.448 NaN 0 0 0 1 0 59 76 MPHOSPH10 10199 broad.mit.edu 37 2 71360599 71360599 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:71360599G>C uc002sht.1 + 2 1013 c.661G>C c.(661-663)GAG>CAG p.E221Q MPHOSPH10_uc010feb.1_Missense_Mutation_p.E221Q NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 221 Potential. RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 AGAAAAAGAAGAGGAACGAAA 0.338 NaN 0 0 0 1 0 40 33 MPHOSPH10 10199 broad.mit.edu 37 2 71360641 71360641 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:71360641G>C uc002sht.1 + 2 1055 c.703G>C c.(703-705)GAT>CAT p.D235H MPHOSPH10_uc010feb.1_Missense_Mutation_p.D235H NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 235 Potential. RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 GGAAGATATTGATTTTTTTGA 0.343 NaN 0 0 0 1 0 49 52 MOGS 7841 broad.mit.edu 37 2 74689845 74689845 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:74689845C>T uc010ffj.2 - 4 1234 c.1071G>A c.(1069-1071)CTG>CTA p.L357L MOGS_uc010ffh.2_Silent_p.L82L|MOGS_uc010yrt.1_Silent_p.L238L|MOGS_uc010ffi.2_Silent_p.L251L NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 357 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GGGCCTGGGTCAGTAGACTGC 0.542 NaN 0 0 0 1 0 55 62 HTRA2 27429 broad.mit.edu 37 2 74757145 74757145 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:74757145G>A uc002smi.1 + 1 614 c.12G>A c.(10-12)CCG>CCA p.P4P AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 4 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TGGCTGCGCCGAGGGCGGGGC 0.741 NaN 0 0 0 1 0 57 67 SEMA4F 10505 broad.mit.edu 37 2 74907021 74907021 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:74907021C>T uc002sna.1 + 14 2109 c.1998C>T c.(1996-1998)TTC>TTT p.F666F SEMA4F_uc010ffr.1_Silent_p.F278F|SEMA4F_uc002snb.1_Silent_p.F278F|SEMA4F_uc002snc.1_Silent_p.F511F NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 666 Helical; (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 TGGCTGGCTTCTTCTTGGGGA 0.627 NaN 0 0 0 1 0 33 45 KDM3A 55818 broad.mit.edu 37 2 86707394 86707394 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:86707394C>T uc002sri.3 + 16 2748 c.2421C>T c.(2419-2421)GCC>GCT p.A807A KDM3A_uc010ytj.1_Silent_p.A807A|KDM3A_uc010ytk.1_Silent_p.A755A NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 807 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 CCAAGCCAGCCGGCAGCATGA 0.567 NaN 0 0 0 1 0 25 22 ANKRD36B 57730 broad.mit.edu 37 2 98206122 98206122 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:98206122G>A uc010yvc.1 - 1 307 c.27C>T c.(25-27)TTC>TTT p.F9F ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 9 0 GGGGAAATGCGAAGCCATCCG 0.512 NaN 0 0 0 1 0 30 47 POU3F3 5455 broad.mit.edu 37 2 105472929 105472929 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:105472929G>A uc010ywg.1 + 1 961 c.961G>A c.(961-963)GAC>AAC p.D321N NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 321 POU-specific. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 GACGTCGGACGACCTGGAGCA 0.617 NaN 0 0 0 1 0 34 34 DPP10 57628 broad.mit.edu 37 2 116485505 116485505 + Silent SNP A A G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:116485505A>G uc002tla.1 + 8 1147 c.690A>G c.(688-690)TTA>TTG p.L230L DPP10_uc002tlb.1_Silent_p.L180L|DPP10_uc002tlc.1_Silent_p.L226L|DPP10_uc002tle.2_Silent_p.L234L|DPP10_uc002tlf.1_Silent_p.L223L NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 230 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CTGACTGGTTATATGAAGGTG 0.299 NaN 0 0 0 1 0 19 19 DDX18 8886 broad.mit.edu 37 2 118577326 118577326 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:118577326G>A uc002tlh.1 + 3 571 c.472G>A c.(472-474)GAA>AAA p.E158K NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 158 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AGATAATGATGAAGATGAGAG 0.413 NaN OREG0003814 type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 1 0 17 45 CNTNAP5 129684 broad.mit.edu 37 2 125555701 125555701 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:125555701G>A uc002tno.2 + 19 3382 c.3018G>A c.(3016-3018)ACG>ACA p.T1006T CNTNAP5_uc010flu.2_Silent_p.T1007T NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1006 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGGCTGGCACGTCGGTTACTT 0.423 NaN 0 0 0 1 0 8 6 UGGT1 56886 broad.mit.edu 37 2 128935411 128935411 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:128935411G>C uc002tps.2 + 33 3808 c.3630G>C c.(3628-3630)CAG>CAC p.Q1210H UGGT1_uc002tpr.2_Missense_Mutation_p.Q1186H NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1210 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 TGCAGGTTCAGAAGAAGGCAG 0.418 NaN 0 0 0 1 0 96 288 SMPD4 55627 broad.mit.edu 37 2 130911411 130911411 + Nonsense_Mutation SNP G G C rs142449057 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:130911411G>C uc002tqq.1 - 17 2394 c.1874C>G c.(1873-1875)TCA>TGA p.S625* SMPD4_uc002tqo.1_Nonsense_Mutation_p.S157*|SMPD4_uc002tqp.1_Nonsense_Mutation_p.S364*|SMPD4_uc010yzy.1_Nonsense_Mutation_p.S374*|SMPD4_uc010yzz.1_Nonsense_Mutation_p.S289*|SMPD4_uc002tqr.1_Nonsense_Mutation_p.S596*|SMPD4_uc002tqs.1_Nonsense_Mutation_p.S493*|SMPD4_uc002tqt.1_Nonsense_Mutation_p.S474*|SMPD4_uc010zaa.1_Nonsense_Mutation_p.S483*|SMPD4_uc010zab.1_Nonsense_Mutation_p.S523*|SMPD4_uc010zac.1_Nonsense_Mutation_p.S366*|SMPD4_uc010zad.1_Nonsense_Mutation_p.S261* NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 586 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCCCAGCCATGAGAGGAAGGA 0.592 NaN 0 0 0 1 0 138 76 ACMSD 130013 broad.mit.edu 37 2 135655919 135655919 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:135655919C>T uc002ttz.2 + 9 925 c.858C>T c.(856-858)GTC>GTT p.V286V ACMSD_uc002tua.2_Silent_p.V228V|uc010zbe.1_Intron NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 286 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) AGGATAAAGTCATTTTGGGAA 0.343 NaN 0 0 0 1 0 277 37 XIRP2 129446 broad.mit.edu 37 2 168104227 168104227 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:168104227G>A uc002udx.2 + 8 6343 c.6325G>A c.(6325-6327)GAT>AAT p.D2109N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1934N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1887N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1934 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAAGAAGGATGATGTCTTTAA 0.368 NaN 0 0 0 1 0 39 10 TTN 7273 broad.mit.edu 37 2 179406276 179406276 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:179406276C>G uc010zfg.1 - 299 90048 c.89824G>C c.(89824-89826)GAT>CAT p.D29942H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D23637H|TTN_uc010zfi.1_Missense_Mutation_p.D23570H|TTN_uc010zfj.1_Missense_Mutation_p.D23445H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30869 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) CGGGAAACATCAAATATCTGT 0.443 NaN 0 0 0 1 0 11 3 TTN 7273 broad.mit.edu 37 2 179435914 179435914 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:179435914C>G uc010zfg.1 - 275 67465 c.67241G>C c.(67240-67242)AGA>ACA p.R22414T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16109T|TTN_uc010zfi.1_Missense_Mutation_p.R16042T|TTN_uc010zfj.1_Missense_Mutation_p.R15917T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23341 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) TGCAGAGACTCTAAATTCATA 0.443 NaN 0 0 0 1 0 61 18 CCDC141 285025 broad.mit.edu 37 2 179701672 179701673 + Missense_Mutation DNP GG GG AA TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:179701672_179701673GG>AA uc002unf.1 - 13 2605_2606 c.2548_2549CC>TT c.(2548-2550)CCA>TTA p.P850L CCDC141_uc002une.1_Missense_Mutation_p.P300L NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 850 Ig-like. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAAAGTCACTGGAGAACCTTCC 0.446 NaN 0 0 0 1 0 28 8 CERKL 375298 broad.mit.edu 37 2 182430845 182430845 + Missense_Mutation SNP A A G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:182430845A>G uc002unx.2 - 4 718 c.617T>C c.(616-618)ATG>ACG p.M206T CERKL_uc002uny.2_Missense_Mutation_p.M206T|CERKL_uc010zfm.1_Missense_Mutation_p.M162T|CERKL_uc002unz.2_Intron|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.M1T|CERKL_uc002uoe.2_Missense_Mutation_p.M206T NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 206 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTCATATTCCATTACTATTAA 0.308 NaN 0 0 0 1 0 46 9 ASNSD1 54529 broad.mit.edu 37 2 190532598 190532598 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:190532598G>C uc002uqt.2 + 5 2007 c.1573G>C c.(1573-1575)GAA>CAA p.E525Q NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 525 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AATAATGATGGAACTGGGTCG 0.413 NaN 0 0 0 1 0 65 12 CLK1 1195 broad.mit.edu 37 2 201718103 201718103 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:201718103C>T uc002uwe.2 - 13 1562 c.1381G>A c.(1381-1383)GAT>AAT p.D461N CLK1_uc002uwd.2_Missense_Mutation_p.D284N|CLK1_uc010zhi.1_Missense_Mutation_p.D503N|CLK1_uc002uwf.2_Missense_Mutation_p.D235N|CLK1_uc002uwg.2_Missense_Mutation_p.D310N|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 461 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 TTGGCTGGATCATACTCCAAC 0.368 NaN 0 0 0 1 0 35 11 CCDC108 255101 broad.mit.edu 37 2 219900268 219900268 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:219900268C>G uc002vjl.1 - 5 560 c.476G>C c.(475-477)GGA>GCA p.G159A CCDC108_uc010zkp.1_Missense_Mutation_p.G148A|CCDC108_uc010zkq.1_Missense_Mutation_p.G94A|CCDC108_uc002vjn.2_Missense_Mutation_p.G94A NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 159 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCTTTCCTAGCTCCCA 0.502 NaN 0 0 0 1 0 77 26 ALPI 248 broad.mit.edu 37 2 233321358 233321358 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:233321358G>C uc002vst.3 + 3 330 c.253G>C c.(253-255)GAG>CAG p.E85Q ALPI_uc002vsu.3_5'UTR NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 85 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) ACTGGGGCCTGAGACGCCCCT 0.607 NaN 0 0 0 1 0 13 1 AGAP1 116987 broad.mit.edu 37 2 236957880 236957880 + Missense_Mutation SNP A A G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:236957880A>G uc002vvs.2 + 16 2664 c.2069A>G c.(2068-2070)GAA>GGA p.E690G AGAP1_uc002vvt.2_Missense_Mutation_p.E637G NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 690 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AGCGTCTGGGAAGAGAGCAGC 0.567 NaN 0 0 0 1 0 45 11 CSRP2BP 57325 broad.mit.edu 37 20 18123337 18123337 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:18123337C>G uc002wqj.2 + 2 655 c.33C>G c.(31-33)ATC>ATG p.I11M CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 11 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 GTAGTCTGATCAGTCGGCATG 0.527 NaN 0 0 0 1 0 22 25 ASXL1 171023 broad.mit.edu 37 20 30956842 30956842 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:30956842C>G uc002wxs.2 + 3 594 c.168C>G c.(166-168)CTC>CTG p.L56L ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 56 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 TCGCATGCCTCAATGCTATGC 0.443 NaN F|N|Mis MDS|CMML 0 0 0 1 0 59 73 EDEM2 55741 broad.mit.edu 37 20 33703305 33703305 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:33703305G>A uc002xbo.2 - 11 1768 c.1668C>T c.(1666-1668)CTC>CTT p.L556L EDEM2_uc010zus.1_Silent_p.L335L|EDEM2_uc002xbq.2_Silent_p.L519L|EDEM2_uc010zut.1_Silent_p.L515L|EDEM2_uc002xbp.2_Silent_p.L404L|EDEM2_uc002xbn.2_Silent_p.L404L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.L280L NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 556 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) TGGGGCAGCTGAGAAGTGGGA 0.488 NaN 0 0 0 1 0 131 193 CEP250 11190 broad.mit.edu 37 20 34091303 34091303 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:34091303G>C uc002xcm.2 + 31 5777 c.5106G>C c.(5104-5106)CAG>CAC p.Q1702H CEP250_uc010zve.1_Missense_Mutation_p.Q1070H NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1702 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TGACCACTCAGAGGCAGCTGA 0.587 NaN 0 0 0 1 0 66 93 SLA2 84174 broad.mit.edu 37 20 35243657 35243657 + Nonsense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:35243657G>C uc002xfv.2 - 6 865 c.503C>G c.(502-504)TCA>TGA p.S168* SLA2_uc002xfu.2_Nonsense_Mutation_p.S168* NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 isoform a 168 SH2. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity 0 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGCCTGGAGTGAGGGGAAGGT 0.617 NaN 0 0 0 1 0 32 71 BPI 671 broad.mit.edu 37 20 36948673 36948673 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:36948673G>T uc002xib.2 + 7 827 c.765G>T c.(763-765)ATG>ATT p.M255I NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 255 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) ATGTACAGATGAAGGTGAGGC 0.468 NaN 1 0 3.86903e-22 1 4.05421e-22 30 37 SLC32A1 140679 broad.mit.edu 37 20 37356882 37356882 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:37356882C>A uc002xjc.2 + 2 1441 c.1178C>A c.(1177-1179)TCC>TAC p.S393Y NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 393 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GCGCTGTTGTCCTATCCTCTG 0.627 NaN 1 0 2.44723e-14 1 2.52127e-14 21 49 SERINC3 10955 broad.mit.edu 37 20 43129838 43129838 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:43129838C>G uc002xme.2 - 9 1293 c.1159G>C c.(1159-1161)GAT>CAT p.D387H SERINC3_uc002xmf.1_Missense_Mutation_p.D387H|SERINC3_uc010ggs.1_Missense_Mutation_p.D380H|SERINC3_uc010zwp.1_Missense_Mutation_p.D332H NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 387 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GGCTGTCCATCTTCTTCATCA 0.517 NaN 0 0 0 1 0 70 101 PCIF1 63935 broad.mit.edu 37 20 44571881 44571881 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:44571881C>T uc002xqs.2 + 8 1133 c.819C>T c.(817-819)ATC>ATT p.I273I PCIF1_uc002xqt.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 273 nucleus skin(1) 1 ACATTCCTATCAGGTACAGCT 0.517 NaN 0 0 0 1 0 57 85 PRPF6 24148 broad.mit.edu 37 20 62659061 62659061 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr20:62659061C>T uc002yho.2 + 17 2479 c.2311C>T c.(2311-2313)CTG>TTG p.L771L PRPF6_uc002yhp.2_Silent_p.L731L NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 771 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AAAGTCTCGTCTGAAGAACCC 0.612 NaN 0 0 0 1 0 96 88 PRDM15 63977 broad.mit.edu 37 21 43222884 43222884 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr21:43222884C>G uc002yzq.1 - 30 4140 c.4029G>C c.(4027-4029)CAG>CAC p.Q1343H PRDM15_uc002yzo.2_Missense_Mutation_p.Q1014H|PRDM15_uc002yzp.2_Missense_Mutation_p.Q1034H|PRDM15_uc002yzr.1_Missense_Mutation_p.Q1034H NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTGAATGCTCTGTACTGCGG 0.527 NaN 0 0 0 1 0 116 145 KRTAP10-10 353333 broad.mit.edu 37 21 46057969 46057969 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr21:46057969C>T uc002zfq.2 + 1 697 c.635C>T c.(634-636)TCT>TTT p.S212F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 212 15 X 5 AA repeats of C-C-X(3). keratin filament 0 TGCGGTGCCTCTGCCTCCTCC 0.697 NaN 0 0 0 1 0 78 85 UFD1L 7353 broad.mit.edu 37 22 19459219 19459219 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:19459219G>C uc002zpm.2 - 4 412 c.282C>G c.(280-282)CTC>CTG p.L94L UFD1L_uc002zpo.2_Silent_p.L94L|UFD1L_uc011agy.1_Silent_p.L94L|UFD1L_uc002zpp.2_Silent_p.L47L|UFD1L_uc010grq.2_Silent_p.L47L NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A 94 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) CCCAGTGTGGGAGGTAGCAGA 0.572 NaN 0 0 0 1 0 26 46 DERL3 91319 broad.mit.edu 37 22 24179997 24179997 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:24179997G>A uc002zyh.2 - 5 397 c.372C>T c.(370-372)CTC>CTT p.L124L DERL3_uc002zyk.3_Silent_p.L124L|DERL3_uc002zyi.2_Silent_p.L124L|DERL3_uc002zyj.2_Intron NM_001002862 NP_001002862 Q96Q80 DERL3_HUMAN derlin 3 isoform 2 124 Lumenal (Potential). endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process integral to endoplasmic reticulum membrane protein binding ovary(1) 1 GCATGGCCATGAGGGCCTGGC 0.677 NaN 0 0 0 1 0 33 51 CYTSA 23384 broad.mit.edu 37 22 24717865 24717865 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:24717865G>C uc002zzw.2 + 5 1224 c.917G>C c.(916-918)GGA>GCA p.G306A CYTSA_uc002zzv.3_Missense_Mutation_p.G306A|CYTSA_uc011ajq.1_Missense_Mutation_p.G306A NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 306 cell cycle|cell division 0 CAGAGCGATGGAGGAGGAACT 0.493 NaN 0 0 0 1 0 65 123 RNF215 200312 broad.mit.edu 37 22 30780387 30780387 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:30780387C>G uc003ahp.2 - 5 685 c.685G>C c.(685-687)GAT>CAT p.D229H RNF215_uc011akw.1_Missense_Mutation_p.D134H NM_001017981 NP_001017981 Q9Y6U7 RN215_HUMAN ring finger protein 215 229 Extracellular (Potential). integral to membrane zinc ion binding central_nervous_system(1) 1 CCATAGCCATCCTTGGAGAGG 0.602 NaN 0 0 0 1 0 52 79 SEC14L2 23541 broad.mit.edu 37 22 30803141 30803141 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:30803141G>C uc003ahr.2 + 4 405 c.232G>C c.(232-234)GAG>CAG p.E78Q SEC14L2_uc003ahq.2_Missense_Mutation_p.E78Q|SEC14L2_uc011akx.1_Missense_Mutation_p.E24Q|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Intron|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank|MTP18_uc010gvy.1_5'Flank NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 78 CRAL-TRIO. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) GCAGCCTCCAGAGGTGAGCAC 0.473 NaN 0 0 0 1 0 30 29 DEPDC5 9681 broad.mit.edu 37 22 32269279 32269279 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:32269279C>G uc003als.2 + 34 3573 c.3431C>G c.(3430-3432)TCT>TGT p.S1144C DEPDC5_uc011als.1_Missense_Mutation_p.S1075C|DEPDC5_uc011alu.1_Missense_Mutation_p.S1175C|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1166C|DEPDC5_uc003alu.2_Missense_Mutation_p.S593C|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_3'UTR|DEPDC5_uc003alw.2_Missense_Mutation_p.S442C|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S170C|DEPDC5_uc011aly.1_5'UTR NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1144 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ACCTCATCCTCTACCCTGACA 0.547 NaN 0 0 0 1 0 67 117 EP300 2033 broad.mit.edu 37 22 41489048 41489048 + Missense_Mutation SNP A A C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 A C A A Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:41489048A>C uc003azl.3 + 1 435 c.40A>C c.(40-42)AAG>CAG p.K14Q NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 14 Interaction with ALX1.|Nuclear localization signal (Potential). apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GCCTTCAGCCAAGCGGCCTAA 0.547 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 1 0 128 151 TCF20 6942 broad.mit.edu 37 22 42609617 42609617 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:42609617C>T uc003bcj.1 - 1 1829 c.1695G>A c.(1693-1695)CAG>CAA p.Q565Q TCF20_uc003bck.1_Silent_p.Q565Q|TCF20_uc003bnt.2_Silent_p.Q565Q NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GGGGTTCATTCTGAGCACCTT 0.582 NaN 0 0 0 1 0 41 54 TUBGCP6 85378 broad.mit.edu 37 22 50682166 50682166 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:50682166G>C uc003bkb.1 - 1 1235 c.723C>G c.(721-723)CTC>CTG p.L241L TUBGCP6_uc010har.1_Silent_p.L241L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.L241L NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 241 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCAGCCCAGAGAGGTCCGCAT 0.522 NaN 0 0 0 1 0 36 47 TUBGCP6 85378 broad.mit.edu 37 22 50682726 50682726 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr22:50682726G>A uc003bkb.1 - 1 675 c.163C>T c.(163-165)CAA>TAA p.Q55* TUBGCP6_uc010har.1_Nonsense_Mutation_p.Q55*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Nonsense_Mutation_p.Q55* NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 55 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCAGCTGTTGAGTCTCATCT 0.532 NaN 0 0 0 1 0 61 97 SH3BP5 9467 broad.mit.edu 37 3 15300495 15300495 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:15300495C>G uc003bzp.1 - 7 921 c.732G>C c.(730-732)AAG>AAC p.K244N SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.K87N|SH3BP5_uc003bzr.1_Missense_Mutation_p.K87N|uc003bzo.1_RNA NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 244 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 TCAGGGCCATCTTGTACTCGC 0.557 NaN 0 0 0 1 0 46 62 EOMES 8320 broad.mit.edu 37 3 27761760 27761760 + Missense_Mutation SNP T T C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:27761760T>C uc003cdx.2 - 2 938 c.938A>G c.(937-939)TAC>TGC p.Y313C EOMES_uc003cdy.3_Missense_Mutation_p.Y313C|EOMES_uc010hfn.2_Missense_Mutation_p.Y313C|EOMES_uc011axc.1_Missense_Mutation_p.Y18C NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 313 T-box. CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 GAACACATTGTAGTGGGCAGT 0.502 NaN 0 0 0 1 0 194 234 GOLGA4 2803 broad.mit.edu 37 3 37388779 37388779 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:37388779G>C uc003cgv.2 + 21 6872 c.6568G>C c.(6568-6570)GAG>CAG p.E2190Q GOLGA4_uc003cgw.2_Missense_Mutation_p.E2205Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E2071Q NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 2190 GRIP. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GATGGGTCGTGAGACTAAGGT 0.373 NaN 0 0 0 1 0 70 91 XIRP1 165904 broad.mit.edu 37 3 39226133 39226133 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:39226133C>G uc003cjk.1 - 2 5025 c.4804G>C c.(4804-4806)GAG>CAG p.E1602Q XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.E285Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1602 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCTCCGACCTCCTGGCCTGAG 0.562 NaN 0 0 0 1 0 190 177 CELSR3 1951 broad.mit.edu 37 3 48664109 48664109 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:48664109C>T uc003cuf.1 - 54 12241 c.12241G>A c.(12241-12243)GAC>AAC p.D4081N SLC26A6_uc003cug.2_Missense_Mutation_p.D674N|SLC26A6_uc003cuh.2_Missense_Mutation_p.D695N|SLC26A6_uc010hke.2_Missense_Mutation_p.D527N|SLC26A6_uc003cuk.2_Missense_Mutation_p.D587N|SLC26A6_uc003cui.2_Missense_Mutation_p.D694N|SLC26A6_uc003cuj.2_Missense_Mutation_p.D676N|SLC26A6_uc011bbp.1_Missense_Mutation_p.D659N NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCCCGGAAGTCATGGAAAATC 0.602 NaN 0 0 0 1 0 166 307 USP4 7375 broad.mit.edu 37 3 49339954 49339954 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:49339954G>A uc003cwq.2 - 10 1229 c.1150C>T c.(1150-1152)CCT>TCT p.P384S USP4_uc003cwo.2_Missense_Mutation_p.P114S|USP4_uc003cwp.2_Missense_Mutation_p.P114S|USP4_uc003cwr.2_Missense_Mutation_p.P337S NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 384 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GAAAATTGAGGAGCAAAACGT 0.388 NaN 0 0 0 1 0 49 34 MST1 4485 broad.mit.edu 37 3 49724610 49724610 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:49724610C>G uc003cxg.2 - 5 651 c.579G>C c.(577-579)CAG>CAC p.Q193H MST1_uc011bcs.1_Missense_Mutation_p.Q193H|MST1_uc010hkx.2_Missense_Mutation_p.Q114H|MST1_uc011bct.1_Missense_Mutation_p.Q193H|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 179 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGCCGCAGCTCTGGAAGCGCA 0.622 NaN 0 0 0 1 0 36 67 DNAH1 25981 broad.mit.edu 37 3 52382979 52382979 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:52382979G>C uc011bef.1 + 13 2443 c.2182G>C c.(2182-2184)GAG>CAG p.E728Q DNAH1_uc003ddt.1_Missense_Mutation_p.E728Q NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 728 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTGGTGGAAGAGCTACGGGC 0.592 NaN 0 0 0 1 0 96 123 NT5DC2 64943 broad.mit.edu 37 3 52561907 52561907 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:52561907C>G uc003deo.2 - 8 1186 c.762G>C c.(760-762)CTG>CTC p.L254L NT5DC2_uc003dem.2_Silent_p.L124L|NT5DC2_uc003den.2_Silent_p.L291L|NT5DC2_uc010hmi.2_Silent_p.L266L|NT5DC2_uc010hmj.2_Silent_p.L70L NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 254 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CCAGGCGGCTCAGGACAGCAA 0.602 NaN 0 0 0 1 0 49 106 PBRM1 55193 broad.mit.edu 37 3 52613209 52613209 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:52613209C>T uc003des.2 - 21 3406 c.3394G>A c.(3394-3396)GAA>AAA p.E1132K PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1132K|PBRM1_uc003der.2_Missense_Mutation_p.E1100K|PBRM1_uc003det.2_Missense_Mutation_p.E1147K|PBRM1_uc003deu.2_Missense_Mutation_p.E1147K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1132K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1107K|PBRM1_uc003dey.2_Missense_Mutation_p.E1107K|PBRM1_uc003dez.1_Missense_Mutation_p.E1131K NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1132 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.E1132fs*27(1) kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGGACATCTTCTTTTTCCTGT 0.408 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 1 0 56 75 PBRM1 55193 broad.mit.edu 37 3 52643597 52643597 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:52643597C>G uc003des.2 - 16 2311 c.2299G>C c.(2299-2301)GAG>CAG p.E767Q PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E767Q|PBRM1_uc003der.2_Missense_Mutation_p.E735Q|PBRM1_uc003det.2_Missense_Mutation_p.E782Q|PBRM1_uc003deu.2_Missense_Mutation_p.E782Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E767Q|PBRM1_uc010hmk.1_Missense_Mutation_p.E767Q|PBRM1_uc003dey.2_Missense_Mutation_p.E767Q|PBRM1_uc003dez.1_Missense_Mutation_p.E767Q|PBRM1_uc003dfb.1_Missense_Mutation_p.E680Q|PBRM1_uc003dfa.1_Missense_Mutation_p.E113Q|PBRM1_uc003dfc.2_Missense_Mutation_p.E134Q NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 767 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TGAGAGTCCTCATCTCCCTCC 0.438 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 1 0 43 25 ITIH1 3697 broad.mit.edu 37 3 52820325 52820325 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:52820325C>A uc003dfs.2 + 13 1632 c.1608C>A c.(1606-1608)TTC>TTA p.F536L ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.F137L|ITIH1_uc010hmo.1_Missense_Mutation_p.F90L|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 536 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GACAAGAATTCAGTATAACCT 0.582 NaN 1 0 0.0477658 1 0.0478438 6 3 LRIG1 26018 broad.mit.edu 37 3 66501996 66501996 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:66501996C>T uc003dmx.2 - 3 366 c.352G>A c.(352-354)GTC>ATC p.V118I LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.V118I NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 118 Extracellular (Potential).|LRR 3. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) AAGAGAGAGACGACATGTGAT 0.483 NaN 0 0 0 1 0 97 227 OR5H6 79295 broad.mit.edu 37 3 97983819 97983819 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:97983819C>G uc003dsi.1 + 1 691 c.691C>G c.(691-693)CTT>GTT p.L231V NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 231 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 TGGAACTATTCTTATATCTTA 0.338 NaN 0 0 0 1 0 21 31 ABI3BP 25890 broad.mit.edu 37 3 100569525 100569525 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:100569525C>G uc003dun.2 - 14 1364 c.1279G>C c.(1279-1281)GAA>CAA p.E427Q ABI3BP_uc003duo.2_Missense_Mutation_p.E469Q NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 427 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 CTTGGCTGTTCAAGAGTTCTA 0.358 NaN 0 0 0 1 0 32 67 PCNP 57092 broad.mit.edu 37 3 101304305 101304305 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:101304305C>G uc003dva.2 + 3 322 c.304C>G c.(304-306)CTT>GTT p.L102V PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.L102V NM_020357 NP_065090 Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear 102 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding 0 TGTTCCAACTCTTGCTCCAAA 0.284 NaN 0 0 0 1 0 61 45 RPL24 6152 broad.mit.edu 37 3 101399989 101399989 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:101399989C>T uc003dvh.1 - 6 507 c.464G>A c.(463-465)GGA>GAA p.G155E RPL24_uc003dvi.1_3'UTR NM_000986 NP_000977 P83731 RL24_HUMAN ribosomal protein L24 155 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 TTAGCGTTTTCCACCAACTCG 0.378 NaN 0 0 0 1 0 151 132 CCDC54 84692 broad.mit.edu 37 3 107096817 107096817 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:107096817C>G uc003dwi.1 + 1 630 c.383C>G c.(382-384)TCT>TGT p.S128C NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 128 Potential. 0 GATATCCTCTCTATGAAAGAA 0.393 NaN 0 0 0 1 0 29 30 CD47 961 broad.mit.edu 37 3 107798974 107798974 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:107798974G>A uc003dwt.1 - 2 444 c.264C>T c.(262-264)GTC>GTT p.V88V CD47_uc003dwu.1_Silent_p.V88V|CD47_uc003dwv.1_Silent_p.V88V|CD47_uc003dww.1_Silent_p.V88V NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 88 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) GTAATTGTGAGACTTCAATTT 0.383 NaN 0 0 0 1 0 62 104 MYH15 22989 broad.mit.edu 37 3 108163567 108163567 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:108163567C>G uc003dxa.1 - 23 2692 c.2635G>C c.(2635-2637)GAG>CAG p.E879Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 879 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTCTGAAACTCTGATTTCTCC 0.438 NaN 0 0 0 1 0 97 78 UPK1B 7348 broad.mit.edu 37 3 118906732 118906732 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:118906732G>A uc003ecc.2 + 3 269 c.180G>A c.(178-180)TGG>TGA p.W60* UPK1B_uc011bix.1_5'UTR|UPK1B_uc003ecd.2_Nonsense_Mutation_p.W60* NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 60 Extracellular (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) GGGCTGCCTGGATCGGCATAT 0.517 NaN 0 0 0 1 0 71 153 POLQ 10721 broad.mit.edu 37 3 121179028 121179028 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:121179028G>A uc003eee.3 - 25 7150 c.7021C>T c.(7021-7023)CAT>TAT p.H2341Y POLQ_uc003eed.2_Missense_Mutation_p.H1513Y NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2341 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGGGATAAATGAGCCAAGATC 0.428 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 1 0 72 63 POLQ 10721 broad.mit.edu 37 3 121187223 121187223 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:121187223G>C uc003eee.3 - 23 6903 c.6774C>G c.(6772-6774)ATC>ATG p.I2258M POLQ_uc003eed.2_Missense_Mutation_p.I1430M NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2258 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TTGGCATTTTGATTTCAAAAT 0.383 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 1 0 81 140 CD86 942 broad.mit.edu 37 3 121822489 121822489 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:121822489G>C uc003eet.2 + 3 311 c.195G>C c.(193-195)CTG>CTC p.L65L CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Silent_p.L59L NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 65 Ig-like V-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACTTGGTTCTGAATGAGGTAT 0.438 NaN 0 0 0 1 0 110 108 ADCY5 111 broad.mit.edu 37 3 123019119 123019119 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:123019119G>A uc003egh.1 - 15 2748 c.2748C>T c.(2746-2748)CTC>CTT p.L916L ADCY5_uc003egg.1_Silent_p.L549L|ADCY5_uc003egi.1_Silent_p.L475L NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 916 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CCAGCAGGCTGAGCAGCACGC 0.652 NaN 0 0 0 1 0 44 40 COL6A6 131873 broad.mit.edu 37 3 130287162 130287162 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:130287162G>C uc010htl.2 + 5 2146 c.2115G>C c.(2113-2115)CTG>CTC p.L705L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 705 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GTAGTGCCCTGAGCTTTGTGT 0.488 NaN 0 0 0 1 0 124 102 PCOLCE2 26577 broad.mit.edu 37 3 142557645 142557645 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:142557645C>G uc003evd.2 - 5 873 c.677G>C c.(676-678)AGA>ACA p.R226T NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 226 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 CTTTCCAATTCTTCTAGCATC 0.383 NaN 0 0 0 1 0 73 83 CPA3 1359 broad.mit.edu 37 3 148596271 148596271 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:148596271G>C uc003ewm.2 + 4 365 c.313G>C c.(313-315)GAT>CAT p.D105H NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 105 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GAAACAGTTTGATGTTAAAGA 0.338 NaN 0 0 0 1 0 86 66 HPS3 84343 broad.mit.edu 37 3 148876575 148876575 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:148876575G>A uc003ewu.1 + 10 1954 c.1814G>A c.(1813-1815)GGA>GAA p.G605E HPS3_uc011bnq.1_Missense_Mutation_p.G440E|HPS3_uc003ewv.1_5'Flank NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 605 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TACGAGAGAGGATTAATCTTT 0.348 NaN Hermansky-Pudlak_syndrome 0 0 0 1 0 45 84 KPNA4 3840 broad.mit.edu 37 3 160253311 160253311 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:160253311G>A uc003fdn.2 - 5 583 c.277C>T c.(277-279)CAA>TAA p.Q93* NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 93 ARM 1; truncated. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTAGCAGCTTGAACTGCACTT 0.303 NaN 0 0 0 1 0 31 22 FNDC3B 64778 broad.mit.edu 37 3 172061902 172061902 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:172061902G>A uc003fhy.2 + 19 2276 c.2104G>A c.(2104-2106)GAG>AAG p.E702K FNDC3B_uc003fhz.3_Missense_Mutation_p.E702K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 702 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AAGTGGCTGTGAGGTCTCAGA 0.517 NaN 0 0 0 1 0 148 132 AP2M1 1173 broad.mit.edu 37 3 183898646 183898646 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:183898646G>A uc011bqx.1 + 6 596 c.439G>A c.(439-441)GAG>AAG p.E147K AP2M1_uc003fmw.2_Missense_Mutation_p.E145K|AP2M1_uc003fmx.2_Missense_Mutation_p.E145K|AP2M1_uc003fmy.2_Missense_Mutation_p.E145K|AP2M1_uc011bqy.1_Missense_Mutation_p.E17K|AP2M1_uc011bqz.1_5'UTR NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 147 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACAAAAGAAGAGCAGTCACA 0.522 NaN 0 0 0 1 0 238 250 LEPREL1 55214 broad.mit.edu 37 3 189690804 189690804 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:189690804C>T uc011bsk.1 - 11 1946 c.1558G>A c.(1558-1560)GAA>AAA p.E520K LEPREL1_uc003fsg.2_Missense_Mutation_p.E339K NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 520 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACTCGACCTTCATAACCAGAC 0.398 NaN 0 0 0 1 0 40 38 RNF168 165918 broad.mit.edu 37 3 196199142 196199142 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:196199142C>T uc003fwq.2 - 6 1802 c.1264G>A c.(1264-1266)GAA>AAA p.E422K RNF168_uc010iah.2_Missense_Mutation_p.E255K|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 422 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AAGTTTATTTCTGTTTCCTCT 0.378 NaN 0 0 0 1 0 85 102 PIGG 54872 broad.mit.edu 37 4 517589 517589 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:517589G>A uc003gak.3 + 9 2092 c.1956G>A c.(1954-1956)TGG>TGA p.W652* PIGG_uc003gaj.3_Nonsense_Mutation_p.W644*|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Nonsense_Mutation_p.W519*|PIGG_uc003gal.3_Nonsense_Mutation_p.W563* NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 652 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GCGAGAAGTGGATGGTGCTGG 0.657 NaN 0 0 0 1 0 28 15 WHSC1 7468 broad.mit.edu 37 4 1918624 1918624 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:1918624C>T uc003gdz.3 + 4 963 c.787C>T c.(787-789)CAC>TAC p.H263Y WHSC1_uc003geb.3_Missense_Mutation_p.H263Y|WHSC1_uc003gec.3_Missense_Mutation_p.H263Y|WHSC1_uc003ged.3_Missense_Mutation_p.H263Y|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.H263Y|WHSC1_uc003gdy.1_Missense_Mutation_p.H263Y|WHSC1_uc010icd.1_Missense_Mutation_p.H263Y|WHSC1_uc003gea.1_Missense_Mutation_p.H263Y|WHSC1_uc010ice.1_Missense_Mutation_p.H263Y|WHSC1_uc003geh.1_Missense_Mutation_p.H263Y NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 263 PWWP 1. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ACGCCAGTATCACGTACAGTT 0.383 NaN T IGH@ MM 0 0 0 1 0 22 27 HTT 3064 broad.mit.edu 37 4 3208581 3208581 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:3208581C>G uc011bvq.1 + 45 6097 c.5952C>G c.(5950-5952)CTC>CTG p.L1984L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1982 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGATCCATCTCAGCCAGTCGG 0.507 NaN 0 0 0 1 0 49 45 RGS12 6002 broad.mit.edu 37 4 3432571 3432571 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:3432571G>C uc003ggw.2 + 17 4907 c.4003G>C c.(4003-4005)GAG>CAG p.E1335Q RGS12_uc003ggv.2_Missense_Mutation_p.E1335Q|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.E687Q|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.E677Q|RGS12_uc010icv.2_Missense_Mutation_p.E534Q NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1335 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGTGGAGGATGAGCACGTGGC 0.692 NaN 0 0 0 1 0 34 44 EVC 2121 broad.mit.edu 37 4 5806484 5806484 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:5806484G>A uc003gil.1 + 17 2661 c.2477G>A c.(2476-2478)CGG>CAG p.R826Q EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 826 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) TACAAACTGCGGAAAAAGCAA 0.557 NaN 0 0 0 1 0 55 40 GRPEL1 80273 broad.mit.edu 37 4 7065824 7065824 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:7065824C>A uc003gjy.1 - 2 230 c.189G>T c.(187-189)GAG>GAT p.E63D GRPEL1_uc003gjz.1_Missense_Mutation_p.E63D NM_025196 NP_079472 Q9HAV7 GRPE1_HUMAN GrpE-like 1, mitochondrial precursor 63 protein folding|protein import into mitochondrial matrix mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding 0 ACTTGACCTTCTCTTCCAGGA 0.552 NaN 1 0 4.09171e-25 1 4.31707e-25 57 35 SLC2A9 56606 broad.mit.edu 37 4 9987351 9987351 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:9987351G>A uc003gmc.2 - 4 538 c.477C>T c.(475-477)CTC>CTT p.L159L SLC2A9_uc003gmd.2_Silent_p.L130L NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 159 Helical; Name=3; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CTCCTGCCTGGAGCGAGCAGG 0.448 NaN 0 0 0 1 0 20 67 LRRC66 339977 broad.mit.edu 37 4 52861441 52861441 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:52861441C>G uc003gzi.2 - 4 1760 c.1747G>C c.(1747-1749)GAA>CAA p.E583Q NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 583 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GCTGTTATTTCTCCGGAGAGG 0.498 NaN 0 0 0 1 0 41 93 PDGFRA 5156 broad.mit.edu 37 4 55161411 55161411 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:55161411C>T uc003han.3 + 23 3573 c.3242C>T c.(3241-3243)TCA>TTA p.S1081L PDGFRA_uc003haa.2_Missense_Mutation_p.S841L NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1081 Ser-rich.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATAGACTCTTCAGACCTGGTG 0.517 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 1 0 33 100 EXOC1 55763 broad.mit.edu 37 4 56750054 56750054 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:56750054G>C uc003hbe.1 + 10 1448 c.1290G>C c.(1288-1290)AAG>AAC p.K430N EXOC1_uc003hbf.1_Missense_Mutation_p.K430N|EXOC1_uc003hbg.1_Missense_Mutation_p.K430N NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 430 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AAGTTGCAAAGATCAAGATGA 0.284 NaN 0 0 0 1 0 20 21 RUFY3 22902 broad.mit.edu 37 4 71588434 71588434 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:71588434C>G uc003hfq.2 + 1 739 c.144C>G c.(142-144)ATC>ATG p.I48M RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Missense_Mutation_p.I48M|RUFY3_uc003hfr.2_Missense_Mutation_p.I48M NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 48 negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) TGGATGACATCTCACTTACAC 0.527 NaN 0 0 0 1 0 67 59 RUFY3 22902 broad.mit.edu 37 4 71634327 71634327 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:71634327G>C uc003hfq.2 + 5 1240 c.645G>C c.(643-645)CTG>CTC p.L215L RUFY3_uc003hfp.3_Silent_p.L275L|RUFY3_uc011cax.1_Silent_p.L233L|RUFY3_uc003hfr.2_Silent_p.L215L|RUFY3_uc011cay.1_Silent_p.L151L NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 215 RUN. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) TGGTGGGTCTGAATGTCATTG 0.438 NaN 0 0 0 1 0 70 69 FRAS1 80144 broad.mit.edu 37 4 79400752 79400752 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:79400752G>C uc003hlb.2 + 56 8763 c.8323G>C c.(8323-8325)GAT>CAT p.D2775H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2770 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGCCTTGGCAGATGCCTCTGA 0.527 NaN 0 0 0 1 0 28 49 HPSE 10855 broad.mit.edu 37 4 84223345 84223345 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:84223345C>T uc003hoj.3 - 10 1382 c.1283G>A c.(1282-1284)AGA>AAA p.R428K HPSE_uc010ika.2_Missense_Mutation_p.R370K|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R171K|HPSE_uc011cct.1_Missense_Mutation_p.R354K|HPSE_uc003hok.3_Missense_Mutation_p.R428K NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 428 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) AAGCTTCCTTCTCTTTGAACC 0.423 NaN 0 0 0 1 0 31 61 SPP1 6696 broad.mit.edu 37 4 88902684 88902684 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:88902684G>T uc003hra.2 + 6 439 c.274G>T c.(274-276)GAT>TAT p.D92Y SPP1_uc003hrb.2_Missense_Mutation_p.D65Y|SPP1_uc003hrc.2_Missense_Mutation_p.D78Y|SPP1_uc011cde.1_Missense_Mutation_p.D105Y|SPP1_uc003hrd.2_Missense_Mutation_p.D51Y NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 92 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) GGATGATGAAGATGATGATGA 0.428 NaN 1 0 3.41882e-60 1 3.66387e-60 128 91 FAM190A 401145 broad.mit.edu 37 4 91230191 91230191 + Silent SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:91230191C>G uc003hsv.3 + 2 1096 c.756C>G c.(754-756)ACC>ACG p.T252T FAM190A_uc003hsu.3_Silent_p.T252T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.T252T NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 252 large_intestine(1)|ovary(1) 2 CTGATCTTACCACAGCTCAGA 0.438 NaN 0 0 0 1 0 32 57 PDLIM5 10611 broad.mit.edu 37 4 95583676 95583676 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:95583676C>T uc003hti.2 + 12 1840 c.1689C>T c.(1687-1689)TGC>TGT p.C563C PDLIM5_uc011cdx.1_Silent_p.C460C|PDLIM5_uc003hth.2_Silent_p.C454C|PDLIM5_uc003htj.2_Silent_p.C238C|PDLIM5_uc003htk.2_Silent_p.C592C|PDLIM5_uc011cdy.1_Silent_p.C441C|PDLIM5_uc003htl.2_Silent_p.C238C NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 563 LIM zinc-binding 3. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) ATGACACTTGCTTTGTATGCT 0.408 NaN 0 0 0 1 0 57 27 NHEDC1 150159 broad.mit.edu 37 4 103832596 103832596 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:103832596C>T uc003hww.2 - 8 1050 c.928G>A c.(928-930)GAA>AAA p.E310K NHEDC1_uc003hwu.2_Missense_Mutation_p.E310K|NHEDC1_uc010ilm.2_Missense_Mutation_p.E77K|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Missense_Mutation_p.E83K NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 310 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) ACCTGGTCTTCACTTGGAAAA 0.299 NaN 0 0 0 1 0 17 34 DKK2 27123 broad.mit.edu 37 4 107845202 107845202 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:107845202C>T uc003hyi.2 - 4 1394 c.689G>A c.(688-690)CGT>CAT p.R230H DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 230 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ACAGTCGCAACGCTGGAAAAT 0.488 NaN 0 0 0 1 0 47 100 SGMS2 166929 broad.mit.edu 37 4 108824404 108824404 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:108824404C>T uc003hyl.3 + 5 1144 c.589C>T c.(589-591)CAG>TAG p.Q197* uc003hym.1_Intron|SGMS2_uc003hyn.2_Nonsense_Mutation_p.Q197*|SGMS2_uc003hyo.2_Nonsense_Mutation_p.Q197* NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 197 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TGGAGACTCTCAGGCAAAAGT 0.408 NaN 0 0 0 1 0 49 133 NDST4 64579 broad.mit.edu 37 4 115750948 115750948 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:115750948C>G uc003ibu.2 - 13 3176 c.2497G>C c.(2497-2499)GAG>CAG p.E833Q NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 833 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTATTACCTCTGGATCCATA 0.343 NaN 0 0 0 1 0 32 13 EXOSC9 5393 broad.mit.edu 37 4 122737544 122737544 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:122737544G>C uc003iea.2 + 11 1285 c.1177G>C c.(1177-1179)GAT>CAT p.D393H EXOSC9_uc003idz.2_Missense_Mutation_p.D410H|EXOSC9_uc003ieb.2_Missense_Mutation_p.D377H NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 393 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 AATACTCTCAGATAGTGAAGA 0.244 NaN 0 0 0 1 0 14 36 MFSD8 256471 broad.mit.edu 37 4 128878746 128878746 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:128878746C>G uc003ifp.2 - 3 227 c.64G>C c.(64-66)GAA>CAA p.E22Q MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Missense_Mutation_p.E22Q|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 22 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 ATGTCCCATTCTCTAGGTGTA 0.308 NaN 0 0 0 1 0 59 55 GUCY1B3 2983 broad.mit.edu 37 4 156726374 156726374 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:156726374G>C uc003ipc.2 + 13 1996 c.1829G>C c.(1828-1830)GGA>GCA p.G610A GUCY1B3_uc011cio.1_Missense_Mutation_p.G632A|GUCY1B3_uc011cip.1_Missense_Mutation_p.G590A|GUCY1B3_uc003ipd.2_Missense_Mutation_p.G538A|GUCY1B3_uc010iqf.2_Missense_Mutation_p.G577A|GUCY1B3_uc010iqg.2_Missense_Mutation_p.G581A|GUCY1B3_uc011ciq.1_Missense_Mutation_p.G538A NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 610 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAAAATACAGGAACAGAGGTA 0.358 NaN 0 0 0 1 0 11 2 DDX60 55601 broad.mit.edu 37 4 169204637 169204637 + Nonsense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:169204637G>C uc003irp.2 - 13 1974 c.1682C>G c.(1681-1683)TCA>TGA p.S561* NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 561 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) ATCCTTCTTTGACTTAATAGT 0.333 NaN 0 0 0 1 0 28 25 SH3RF1 57630 broad.mit.edu 37 4 170028027 170028027 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr4:170028027C>G uc003isa.1 - 11 2804 c.2469G>C c.(2467-2469)TTG>TTC p.L823F NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 823 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TAGACTCATTCAAGACAGGAC 0.483 NaN 0 0 0 1 0 61 54 ADCY2 108 broad.mit.edu 37 5 7414837 7414837 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:7414837G>T uc003jdz.1 + 2 429 c.362G>T c.(361-363)GGA>GTA p.G121V NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 121 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GTTGCCATGGGATACCTGTTC 0.428 NaN 1 0 8.16721e-17 1 8.45692e-17 33 31 SEMA5A 9037 broad.mit.edu 37 5 9066645 9066645 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:9066645G>C uc003jek.2 - 17 2899 c.2187C>G c.(2185-2187)TTC>TTG p.F729L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 729 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ATGTGTATCGGAATCGTTGCT 0.557 NaN 0 0 0 1 0 129 79 MYO10 4651 broad.mit.edu 37 5 16668556 16668556 + Nonsense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:16668556G>A uc003jft.3 - 40 6373 c.5905C>T c.(5905-5907)CAG>TAG p.Q1969* MYO10_uc011cnb.1_Nonsense_Mutation_p.Q598*|MYO10_uc011cnc.1_Nonsense_Mutation_p.Q848*|MYO10_uc011cnd.1_Nonsense_Mutation_p.Q1326*|MYO10_uc011cne.1_Nonsense_Mutation_p.Q1326*|MYO10_uc010itx.2_Nonsense_Mutation_p.Q1591* NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1969 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CAGAGTTCCTGAGGGAAGCCA 0.512 NaN 0 0 0 1 0 15 9 OSMR 9180 broad.mit.edu 37 5 38884065 38884065 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:38884065G>A uc003jln.1 + 5 922 c.555G>A c.(553-555)CAG>CAA p.Q185Q OSMR_uc003jlm.1_Silent_p.Q185Q NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 185 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) AAGGGAAACAGATTCATGGAG 0.373 NaN 0 0 0 1 0 62 27 PAIP1 10605 broad.mit.edu 37 5 43543211 43543211 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:43543211G>C uc003job.2 - 4 876 c.629C>G c.(628-630)TCT>TGT p.S210C PAIP1_uc003joa.2_Missense_Mutation_p.S131C|PAIP1_uc010ivp.2_Missense_Mutation_p.S131C|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.S98C NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 210 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ATTTGGGATAGATGTGGCCTT 0.358 NaN 0 0 0 1 0 22 17 C5orf35 133383 broad.mit.edu 37 5 56207012 56207012 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:56207012C>G uc003jqx.2 + 2 488 c.115C>G c.(115-117)CCA>GCA p.P39A C5orf35_uc003jqy.2_Intron NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 39 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) CCGATATGTTCCAGAGGAATC 0.383 NaN 0 0 0 1 0 41 23 MAST4 375449 broad.mit.edu 37 5 66459046 66459046 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:66459046C>G uc003jut.1 + 28 3540 c.3472C>G c.(3472-3474)CGG>GGG p.R1158G MAST4_uc003juw.2_Missense_Mutation_p.R1086G|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1350 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CGGGCACATCCGGCCCAGCAC 0.632 NaN 0 0 0 1 0 66 255 BDP1 55814 broad.mit.edu 37 5 70855922 70855922 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:70855922C>T uc003kbp.1 + 37 7617 c.7354C>T c.(7354-7356)CCT>TCT p.P2452S BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2452 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ATCTAGATCTCCTGATGCATG 0.438 NaN 0 0 0 1 0 49 34 TNPO1 3842 broad.mit.edu 37 5 72188999 72188999 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:72188999G>A uc003kck.3 + 16 1969 c.1822G>A c.(1822-1824)GGA>AGA p.G608R TNPO1_uc011csj.1_Missense_Mutation_p.G558R|TNPO1_uc003kch.2_Missense_Mutation_p.G600R|TNPO1_uc003kci.3_Missense_Mutation_p.G600R|TNPO1_uc003kcg.3_Missense_Mutation_p.G600R NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 608 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) ACTGCAGTCTGGATTCCTTCC 0.398 NaN 0 0 0 1 0 46 140 THBS4 7060 broad.mit.edu 37 5 79366148 79366148 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:79366148G>C uc003kgh.2 + 12 1690 c.1367G>C c.(1366-1368)GGA>GCA p.G456A uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 456 EGF-like 4. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GGTTGGGCTGGAGATGGCTAT 0.562 NaN 0 0 0 1 0 15 76 MSH3 4437 broad.mit.edu 37 5 80150118 80150118 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:80150118G>C uc003kgz.2 + 21 3236 c.2983G>C c.(2983-2985)GAG>CAG p.E995Q NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 995 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGCTACACTTGAGTATTTCAT 0.289 NaN MMR 0 0 0 1 0 35 106 RASGRF2 5924 broad.mit.edu 37 5 80422972 80422972 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:80422972G>C uc003kha.1 + 17 2676 c.2676G>C c.(2674-2676)GGG>GGC p.G892G RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 892 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAGGACATGGGAGTCCACCAG 0.493 NaN 0 0 0 1 0 17 53 CETN3 1070 broad.mit.edu 37 5 89701566 89701566 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:89701566C>G uc003kjo.2 - 3 329 c.204G>C c.(202-204)AAG>AAC p.K68N NM_004365 NP_004356 O15182 CETN3_HUMAN centrin 3 68 EF-hand 2. cell division|centrosome cycle|mitosis centriole calcium ion binding 0 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) CTTTAAGAATCTTCAGTACAT 0.338 NaN 0 0 0 1 0 38 35 GPR98 84059 broad.mit.edu 37 5 89943435 89943435 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:89943435G>A uc003kju.2 + 17 3239 c.3143G>A c.(3142-3144)AGA>AAA p.R1048K GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1048 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTACTGCAAGAGAGAGAGAT 0.423 NaN 0 0 0 1 0 36 92 FAM170A 340069 broad.mit.edu 37 5 118965403 118965403 + Translation_Start_Site SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:118965403C>G uc003ksm.2 + 1 150 c.-60C>G c.(-62--58)ATCTA>ATGTA FAM170A_uc003ksl.2_Translation_Start_Site|FAM170A_uc003ksn.2_Translation_Start_Site|FAM170A_uc003kso.2_Translation_Start_Site NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A intracellular zinc ion binding skin(1) 1 AAGGGCCAATCTACAGGAAAA 0.398 NaN 0 0 0 1 0 25 26 LMNB1 4001 broad.mit.edu 37 5 126147468 126147468 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:126147468G>C uc003kud.1 + 5 1185 c.817G>C c.(817-819)GAG>CAG p.E273Q LMNB1_uc003kuc.2_Missense_Mutation_p.E273Q|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.E63Q NM_005573 NP_005564 P20700 LMNB1_HUMAN lamin B1 273 Rod.|Coil 2. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity kidney(1)|central_nervous_system(1) 2 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) CTTTTAGCTTGAGAATGCCAG 0.423 NaN 0 0 0 1 0 30 28 AFF4 27125 broad.mit.edu 37 5 132270097 132270097 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:132270097C>A uc003kyd.2 - 3 1068 c.660G>T c.(658-660)TGG>TGT p.W220C AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.W220C|AFF4_uc003kyf.3_Missense_Mutation_p.W220C NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 220 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGGAGAATCCCAGTTTGCAT 0.448 NaN 1 0 9.17885e-22 1 9.56911e-22 33 49 PCDHA5 56143 broad.mit.edu 37 5 140202695 140202695 + Silent SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:140202695C>A uc003lhl.2 + 1 1335 c.1335C>A c.(1333-1335)GCC>GCA p.A445A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A445A|PCDHA5_uc003lhj.1_Silent_p.A445A NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 445 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAAGTGGCCGACGTGAACG 0.657 NaN 1 0 4.21487e-37 1 4.48562e-37 89 71 PCDHB13 56123 broad.mit.edu 37 5 140595757 140595757 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:140595757G>A uc003lja.1 + 1 2249 c.2062G>A c.(2062-2064)GTC>ATC p.V688I NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 688 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTGCTCACCGTCTACCTGGT 0.687 NaN 0 0 0 1 0 89 168 FAT2 2196 broad.mit.edu 37 5 150934193 150934193 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:150934193G>A uc003lue.3 - 4 3688 c.3675C>T c.(3673-3675)ACC>ACT p.T1225T GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1225 Extracellular (Potential).|Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCACCCTGGAGGTGGACTTCA 0.517 NaN 0 0 0 1 0 37 99 GEMIN5 25929 broad.mit.edu 37 5 154267890 154267890 + Silent SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:154267890G>T uc003lvx.3 - 28 4490 c.4407C>A c.(4405-4407)CTC>CTA p.L1469L GEMIN5_uc011ddk.1_Silent_p.L1468L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1469 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGGACCTGATGAGAAGCAGGA 0.527 NaN 1 0 9.16793e-09 1 9.31997e-09 16 59 ODZ2 57451 broad.mit.edu 37 5 167631499 167631499 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:167631499G>A uc010jjd.2 + 19 3670 c.3670G>A c.(3670-3672)GAA>AAA p.E1224K ODZ2_uc003lzr.3_Missense_Mutation_p.E1001K|ODZ2_uc003lzt.3_Missense_Mutation_p.E597K|ODZ2_uc010jje.2_Missense_Mutation_p.E495K NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CGGCCTTGCTGAAGGCAACAA 0.577 NaN 0 0 0 1 0 18 42 DOCK2 1794 broad.mit.edu 37 5 169502984 169502984 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:169502984G>A uc003maf.2 + 47 4842 c.4762G>A c.(4762-4764)GAG>AAG p.E1588K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E1080K|DOCK2_uc003mah.2_Missense_Mutation_p.E144K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1588 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAAGATCCATGAGAAAAGGGT 0.532 NaN 0 0 0 1 0 40 118 NKX2-5 1482 broad.mit.edu 37 5 172660109 172660109 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:172660109C>T uc003mcm.1 - 2 614 c.438G>A c.(436-438)TCG>TCA p.S146S NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 146 Homeobox. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCTGCGCCTGCGAGAAGAGCA 0.692 NaN 0 0 0 1 0 8 5 CPEB4 80315 broad.mit.edu 37 5 173316947 173316947 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:173316947C>G uc003mcs.3 + 1 1617 c.211C>G c.(211-213)CAG>GAG p.Q71E CPEB4_uc010jju.1_Missense_Mutation_p.Q71E|CPEB4_uc010jjv.2_Missense_Mutation_p.Q71E|CPEB4_uc011dfg.1_Missense_Mutation_p.Q71E NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 71 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCATAACATTCAGGATGAGAT 0.498 NaN 0 0 0 1 0 111 83 CANX 821 broad.mit.edu 37 5 179143168 179143168 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:179143168C>T uc003mkk.2 + 8 961 c.784C>T c.(784-786)CTG>TTG p.L262L CANX_uc011dgp.1_Silent_p.L297L|CANX_uc010jlb.1_Silent_p.L198L|CANX_uc003mkl.2_Silent_p.L262L|CANX_uc011dgq.1_Silent_p.L154L NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 262 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGTGGAAATCTGCTCAATGA 0.388 NaN 0 0 0 1 0 61 57 HIVEP1 3096 broad.mit.edu 37 6 12122571 12122571 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12122571C>T uc003nac.2 + 4 2722 c.2543C>T c.(2542-2544)TCA>TTA p.S848L HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 848 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACAGGTTATTCAGCAGTACCT 0.398 NaN 0 0 0 1 0 39 107 HIVEP1 3096 broad.mit.edu 37 6 12122603 12122603 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12122603C>T uc003nac.2 + 4 2754 c.2575C>T c.(2575-2577)CAT>TAT p.H859Y HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 859 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACCTCCTCCTCATCCACTAAG 0.443 NaN 0 0 0 1 0 36 91 HIVEP1 3096 broad.mit.edu 37 6 12122781 12122781 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12122781C>G uc003nac.2 + 4 2932 c.2753C>G c.(2752-2754)TCC>TGC p.S918C HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 918 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACTGGACAGTCCCTGGATGAG 0.517 NaN 0 0 0 1 0 10 33 HIVEP1 3096 broad.mit.edu 37 6 12123600 12123600 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12123600C>T uc003nac.2 + 4 3751 c.3572C>T c.(3571-3573)TCT>TTT p.S1191F HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1191 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CGGGACGGGTCTCATCCTCAC 0.512 NaN 0 0 0 1 0 3 30 HIVEP1 3096 broad.mit.edu 37 6 12123624 12123624 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12123624C>G uc003nac.2 + 4 3775 c.3596C>G c.(3595-3597)TCA>TGA p.S1199* HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1199 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTTGCACTATCAGACGCTCTC 0.512 NaN 0 0 0 1 0 4 31 HIVEP1 3096 broad.mit.edu 37 6 12123634 12123634 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:12123634C>T uc003nac.2 + 4 3785 c.3606C>T c.(3604-3606)CTC>CTT p.L1202L HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1202 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAGACGCTCTCAGAGGAGAAC 0.517 NaN 0 0 0 1 0 3 34 RNF182 221687 broad.mit.edu 37 6 13977385 13977385 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:13977385C>G uc003nbe.2 + 3 453 c.35C>G c.(34-36)TCT>TGT p.S12C RNF182_uc003nbf.2_Missense_Mutation_p.S12C|RNF182_uc003nbg.2_Missense_Mutation_p.S12C NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 12 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) ACTGCGGAGTCTCAGGCCTCT 0.468 NaN 0 0 0 1 0 45 100 KIF13A 63971 broad.mit.edu 37 6 17771434 17771434 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:17771434G>C uc003ncg.3 - 38 4597 c.4492C>G c.(4492-4494)CAG>GAG p.Q1498E KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Intron|KIF13A_uc003nci.3_Intron|KIF13A_uc003nce.1_Intron NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1498 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATGTGCCTGAGGTGGAGGC 0.458 NaN 0 0 0 1 0 8 17 LRRC16A 55604 broad.mit.edu 37 6 25619782 25619782 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:25619782G>A uc011djw.1 + 37 4463 c.4087G>A c.(4087-4089)GAA>AAA p.E1363K LRRC16A_uc010jpx.2_Missense_Mutation_p.E1318K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1357K NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1363 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 CTCCGGGGAAGAAGCAGAAAA 0.498 NaN 0 0 0 1 0 62 45 ZNF322A 79692 broad.mit.edu 37 6 26637743 26637743 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:26637743C>G uc003nil.3 - 4 1668 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q ZNF322A_uc003nij.2_5'Flank NM_024639 NP_078915 Q6U7Q0 Z322A_HUMAN zinc finger protein 322A 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 TGTAGCTCCTCTGTTTGAGTT 0.428 NaN 0 0 0 1 0 63 101 FKSG83 83954 broad.mit.edu 37 6 27293278 27293278 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:27293278C>G uc010jqt.2 + 1 701 c.217C>G c.(217-219)CAT>GAT p.H73D FKSG83_uc010jqs.1_3'UTR NM_032030 NP_114419 Q3KNW7 Q3KNW7_HUMAN FKSG83 73 integral to membrane pheromone receptor activity 0 GACGGTCTTTCATATTCACAG 0.398 NaN 0 0 0 1 0 72 67 GNL1 2794 broad.mit.edu 37 6 30514513 30514513 + Silent SNP G G A rs5875262 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:30514513G>A uc003nqh.2 - 11 2570 c.1542C>T c.(1540-1542)CTC>CTT p.L514L GNL1_uc011dmi.1_Silent_p.L311L|GNL1_uc011dmj.1_Silent_p.L512L|GNL1_uc011dmk.1_Silent_p.L169L NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 514 L -> V (in Ref. 1; AAA66492). response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 AACACAGGCTGAGGCGGCCGT 0.507 NaN 0 0 0 1 0 28 83 MDC1 9656 broad.mit.edu 37 6 30672146 30672146 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:30672146G>C uc003nrg.3 - 10 5254 c.4814C>G c.(4813-4815)TCT>TGT p.S1605C MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1212C NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1605 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GGTCTTGACAGAGGACCTATT 0.602 NaN Other_conserved_DNA_damage_response_genes 0 0 0 1 0 91 86 MDC1 9656 broad.mit.edu 37 6 30673848 30673848 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:30673848G>C uc003nrg.3 - 10 3552 c.3112C>G c.(3112-3114)CTG>GTG p.L1038V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.L645V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1038 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GTAGGAGGCAGACAAGCATCT 0.517 NaN Other_conserved_DNA_damage_response_genes 0 0 0 1 0 41 35 BAT5 7920 broad.mit.edu 37 6 31669889 31669889 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:31669889G>A uc003nvy.1 - 2 181 c.151C>T c.(151-153)CGT>TGT p.R51C BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Intron|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_Intron|BAT5_uc011doa.1_5'UTR NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 51 integral to membrane hydrolase activity|protein binding 0 TCCAGGGCACGGGGCTGATAG 0.547 NaN 0 0 0 1 0 19 54 TNXB 7148 broad.mit.edu 37 6 32046817 32046817 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:32046817G>A uc003nzl.2 - 11 4570 c.4368C>T c.(4366-4368)GGC>GGT p.G1456G NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1543 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CACCTGTCACGCCCACGGCGG 0.662 NaN 0 0 0 1 0 47 27 HLA-DOA 3111 broad.mit.edu 37 6 32977305 32977305 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:32977305G>C uc003ocr.2 - 1 85 c.9C>G c.(7-9)CTC>CTG p.L3L HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 GCCCTGCTCTGAGGGCCATTA 0.587 NaN 0 0 0 1 0 5 12 ANKS1A 23294 broad.mit.edu 37 6 34985275 34985275 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:34985275G>C uc003ojx.3 + 11 1591 c.1449G>C c.(1447-1449)CGG>CGC p.R483R ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R23R|ANKS1A_uc010jvp.1_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 483 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GCAGCAGCCGGAGCCAGGACT 0.592 NaN 0 0 0 1 0 70 54 MAPK14 1432 broad.mit.edu 37 6 36020527 36020527 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:36020527C>T uc003olp.2 + 2 649 c.168C>T c.(166-168)TCC>TCT p.S56S MAPK14_uc011dth.1_Silent_p.S56S|MAPK14_uc003olo.2_Silent_p.S56S|MAPK14_uc003olq.2_Silent_p.S56S|MAPK14_uc003olr.2_Silent_p.S56S|MAPK14_uc011dti.1_5'UTR NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 56 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 AGAAGCTCTCCAGACCATTTC 0.383 NaN 0 0 0 1 0 32 93 PPIL1 51645 broad.mit.edu 37 6 36823787 36823787 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:36823787G>A uc003omu.2 - 4 555 c.303C>T c.(301-303)GCC>GCT p.A101A NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase-like 1 101 PPIase cyclophilin-type.|Cyclosporin A binding. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 GCCCCGCATTGGCCATTGCGA 0.552 NaN 0 0 0 1 0 23 23 LRFN2 57497 broad.mit.edu 37 6 40399707 40399707 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:40399707G>C uc003oph.1 - 2 1611 c.1146C>G c.(1144-1146)CTC>CTG p.L382L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 382 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCTGTTGCTGAGGTGTGGCA 0.652 NaN 0 0 0 1 0 23 50 PRPH2 5961 broad.mit.edu 37 6 42689881 42689881 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:42689881C>G uc003osk.2 - 1 478 c.192G>C c.(190-192)TTG>TTC p.L64F NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 64 Helical; (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CCATCCCTATCAATGAGTTGG 0.517 NaN 0 0 0 1 0 78 70 ME1 4199 broad.mit.edu 37 6 84108173 84108173 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:84108173G>C uc003pjy.2 - 3 381 c.275C>G c.(274-276)TCT>TGT p.S92C ME1_uc011dzb.1_Missense_Mutation_p.S17C|ME1_uc011dzc.1_Intron NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 92 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CTCAATGTCAGATGTCAGCAC 0.363 NaN 0 0 0 1 0 14 54 MDN1 23195 broad.mit.edu 37 6 90425454 90425454 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:90425454C>G uc003pnn.1 - 45 6894 c.6778G>C c.(6778-6780)GAA>CAA p.E2260Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2260 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTCCGGGTTCAAGCAAAGCA 0.448 NaN 0 0 0 1 0 28 107 PREP 5550 broad.mit.edu 37 6 105825294 105825294 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:105825294G>A uc003prc.2 - 3 424 c.221C>T c.(220-222)CCC>CTC p.P74L NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 74 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ACTATACTTGGGATAATCATA 0.358 NaN 0 0 0 1 0 29 106 MARCKS 4082 broad.mit.edu 37 6 114181750 114181750 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:114181750G>C uc003pvy.3 + 2 1389 c.994G>C c.(994-996)GAG>CAG p.E332Q NM_002356 NP_002347 P29966 MARCS_HUMAN myristoylated alanine-rich protein kinase C 332 energy reserve metabolic process|regulation of insulin secretion actin cytoskeleton|plasma membrane actin filament binding|calmodulin binding 0 all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198) Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322) GGAGGCGGCAGAGTAAAAGAG 0.597 NaN 0 0 0 1 0 73 53 PLN 5350 broad.mit.edu 37 6 118880088 118880088 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:118880088G>C uc003pye.2 + 2 215 c.4G>C c.(4-6)GAG>CAG p.E2Q C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron NM_002667 NP_002658 P26678 PPLA_HUMAN phospholamban 2 Cytoplasmic (Potential). blood circulation|regulation of calcium ion transport integral to membrane|mitochondrial membrane|sarcoplasmic reticulum calcium channel regulator activity|protein binding 0 all_cancers(87;0.0916)|all_epithelial(87;0.131) GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176) TGGTATCATGGAGAAAGTCCA 0.403 NaN 0 0 0 1 0 17 17 PTPRK 5796 broad.mit.edu 37 6 128318060 128318060 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:128318060C>A uc003qbk.2 - 17 3117 c.2750G>T c.(2749-2751)GGA>GTA p.G917V PTPRK_uc003qbj.2_Missense_Mutation_p.G918V|PTPRK_uc010kfc.2_Missense_Mutation_p.G918V|PTPRK_uc011ebu.1_Missense_Mutation_p.G934V NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 917 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) TATAATGTTTCCATATCGGTT 0.333 NaN 1 0 0.0135373 1 0.0135816 9 19 HIVEP2 3097 broad.mit.edu 37 6 143095470 143095470 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:143095470C>T uc003qjd.2 - 5 1149 c.406G>A c.(406-408)GAG>AAG p.E136K NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AATAAGTCCTCAGAGGCAACG 0.502 NaN 0 0 0 1 0 77 71 UTRN 7402 broad.mit.edu 37 6 145051568 145051568 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:145051568G>A uc003qkt.2 + 53 7977 c.7885G>A c.(7885-7887)GAT>AAT p.D2629N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2629 Spectrin 18. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTTCTTGGCTGATCAGCCAAT 0.448 NaN 0 0 0 1 0 19 39 RAET1E 135250 broad.mit.edu 37 6 150210659 150210659 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:150210659G>C uc003qnl.1 - 3 507 c.447C>G c.(445-447)CTC>CTG p.L149L uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L149L|RAET1E_uc003qnk.1_Silent_p.L113L|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 149 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TTGCGTCAAAGAGGAGGGATT 0.468 NaN 0 0 0 1 0 84 69 ARID1B 57492 broad.mit.edu 37 6 157256700 157256700 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:157256700C>G uc003qqn.2 + 4 1966 c.1814C>G c.(1813-1815)TCA>TGA p.S605* ARID1B_uc003qqo.2_Nonsense_Mutation_p.S618*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.S605*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.S33* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 663 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GAAAGACCATCAAGTTTACCA 0.373 NaN 0 0 0 1 0 17 58 SUN1 23353 broad.mit.edu 37 7 872165 872165 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:872165G>C uc011jvp.1 + 2 83 c.4G>C c.(4-6)GAT>CAT p.D2H SUN1_uc010ksa.1_Missense_Mutation_p.D23H|SUN1_uc003sje.1_Missense_Mutation_p.D2H|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.D2H NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 2 Nuclear.|LMNA-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GGTGAACATGGATTTTTCTCG 0.537 NaN 0 0 0 1 0 12 17 SUN1 23353 broad.mit.edu 37 7 872210 872210 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:872210G>C uc011jvp.1 + 2 128 c.49G>C c.(49-51)GAG>CAG p.E17Q SUN1_uc010ksa.1_Missense_Mutation_p.E38Q|SUN1_uc003sje.1_Missense_Mutation_p.E17Q|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.E17Q NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 17 Nuclear.|LMNA-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GTGTGTGCCGGAGAACACGGG 0.562 NaN 0 0 0 1 0 9 16 HDAC9 9734 broad.mit.edu 37 7 18767220 18767220 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:18767220G>A uc003suh.2 + 12 1781 c.1740G>A c.(1738-1740)ACG>ACA p.T580T HDAC9_uc003sue.2_Silent_p.T580T|HDAC9_uc011jyd.1_Silent_p.T580T|HDAC9_uc003sui.2_Silent_p.T583T|HDAC9_uc003suj.2_Silent_p.T539T|HDAC9_uc003sua.1_Silent_p.T558T|HDAC9_uc010kue.1_Silent_p.T235T NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 580 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGGAACCCACGCACACACGTG 0.527 NaN 0 0 0 1 0 4 14 ABCB5 340273 broad.mit.edu 37 7 20766683 20766683 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:20766683G>C uc003suw.3 + 13 1857 c.1311G>C c.(1309-1311)GAG>GAC p.E437D ABCB5_uc010kuh.2_Missense_Mutation_p.E882D|ABCB5_uc003sux.1_Missense_Mutation_p.E60D NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 437 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AAGCTTTGGAGAATATACGTA 0.328 NaN 0 0 0 1 0 33 48 STK31 56164 broad.mit.edu 37 7 23821065 23821065 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:23821065G>C uc003sws.3 + 16 2060 c.1993G>C c.(1993-1995)GAG>CAG p.E665Q STK31_uc003swt.3_Missense_Mutation_p.E642Q|STK31_uc011jze.1_Missense_Mutation_p.E665Q|STK31_uc010kuq.2_Missense_Mutation_p.E642Q NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 665 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CTCTCAAATTGAGAAAATAAA 0.299 NaN 0 0 0 1 0 20 43 VPS41 27072 broad.mit.edu 37 7 38860835 38860835 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:38860835C>G uc003tgy.2 - 6 378 c.352G>C c.(352-354)GAA>CAA p.E118Q VPS41_uc003tgz.2_Missense_Mutation_p.E93Q|VPS41_uc010kxn.2_Missense_Mutation_p.E118Q NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 118 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 TCGTGAAATTCTTCTCCAGAA 0.368 NaN 0 0 0 1 0 75 102 POLM 27434 broad.mit.edu 37 7 44119193 44119193 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:44119193C>G uc003tjt.2 - 4 711 c.619G>C c.(619-621)GAA>CAA p.E207Q POLM_uc003tjw.1_5'Flank|POLM_uc003tju.2_Missense_Mutation_p.E207Q|POLM_uc003tjx.2_Missense_Mutation_p.E207Q|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.E207Q|POLM_uc011kbu.1_Missense_Mutation_p.E174Q|POLM_uc010kxy.2_Missense_Mutation_p.E207Q NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 207 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GAGGAGTGTTCTCCAAAGTGG 0.637 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 1 0 42 67 CCM2 83605 broad.mit.edu 37 7 45115443 45115443 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:45115443G>A uc003tmo.2 + 10 1268 c.1122G>A c.(1120-1122)GTG>GTA p.V374V CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.V316V|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.V283V|CCM2_uc003tms.2_Silent_p.V395V NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 374 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 CCATTGGCGTGAAGGATGGCC 0.612 NaN Familial_Cerebral_Cavernous_Angioma 0 0 0 1 0 54 59 CLIP2 7461 broad.mit.edu 37 7 73790516 73790516 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:73790516G>A uc003uam.2 + 10 2112 c.1785G>A c.(1783-1785)CTG>CTA p.L595L CLIP2_uc003uan.2_Silent_p.L560L|CLIP2_uc003uao.2_5'UTR NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 595 Potential. microtubule associated complex skin(3) 3 TGGCGGGCCTGAAGGACAAGG 0.612 NaN 0 0 0 1 0 26 26 AKAP9 10142 broad.mit.edu 37 7 91709233 91709233 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:91709233G>A uc003ulg.2 + 31 8011 c.7786G>A c.(7786-7788)GAG>AAG p.E2596K AKAP9_uc003ulf.2_Missense_Mutation_p.E2588K|AKAP9_uc003uli.2_Missense_Mutation_p.E2219K|AKAP9_uc003ulj.2_Missense_Mutation_p.E366K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2608 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGAGAAGATGAGTTGGGGTC 0.318 NaN T BRAF papillary thyroid 0 0 0 1 0 50 39 HEPACAM2 253012 broad.mit.edu 37 7 92838029 92838029 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:92838029G>A uc003umm.2 - 4 899 c.876C>T c.(874-876)ATC>ATT p.I292I HEPACAM2_uc003uml.2_Silent_p.I280I|HEPACAM2_uc010lff.2_Silent_p.I280I|HEPACAM2_uc011khy.1_Silent_p.I315I NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 292 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 CATGCTTAATGATATATGTAG 0.463 NaN 0 0 0 1 0 37 59 CCDC132 55610 broad.mit.edu 37 7 92921129 92921129 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:92921129G>A uc003umo.2 + 13 1185 c.1057G>A c.(1057-1059)GAT>AAT p.D353N CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.D323N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.D73N NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 353 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TGACAATGAGGATACTGCTTC 0.368 NaN 0 0 0 1 0 33 40 PON2 5445 broad.mit.edu 37 7 95039303 95039303 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:95039303G>A uc003unv.2 - 6 726 c.605C>T c.(604-606)GCA>GTA p.A202V PON2_uc003unu.2_Missense_Mutation_p.A190V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.A115V NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 202 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) AACAACATTTGCCCAGTGTAA 0.388 NaN 0 0 0 1 0 66 94 SMURF1 57154 broad.mit.edu 37 7 98634777 98634777 + Silent SNP G G A rs148999069 byFrequency TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:98634777G>A uc003upu.1 - 16 2120 c.1800C>T c.(1798-1800)ATC>ATT p.I600I SMURF1_uc003upv.1_Silent_p.I574I|SMURF1_uc003upt.2_Silent_p.I574I NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 600 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) ACTGGGCTTCGATTCCTCTCA 0.468 NaN OREG0018188 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 52 79 PUS7 54517 broad.mit.edu 37 7 105111175 105111175 + Nonsense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:105111175G>C uc003vcx.2 - 11 1577 c.1358C>G c.(1357-1359)TCA>TGA p.S453* PUS7_uc010lji.2_Nonsense_Mutation_p.S459*|PUS7_uc003vcy.2_Nonsense_Mutation_p.S453*|PUS7_uc003vcz.1_Nonsense_Mutation_p.S453* NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 453 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 TCCATATTTTGAAAGTCCTCG 0.423 NaN 0 0 0 1 0 92 109 LAMB4 22798 broad.mit.edu 37 7 107689947 107689947 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:107689947G>A uc010ljo.1 - 27 4030 c.3946C>T c.(3946-3948)CAC>TAC p.H1316Y LAMB4_uc003vey.2_Missense_Mutation_p.H1316Y|LAMB4_uc010ljp.1_Missense_Mutation_p.H285Y NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1316 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GATGATATGTGATAATATTTC 0.284 NaN 0 0 0 1 0 27 47 ZNF800 168850 broad.mit.edu 37 7 127014125 127014125 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:127014125G>C uc003vlx.1 - 5 1528 c.1265C>G c.(1264-1266)TCC>TGC p.S422C ZNF800_uc003vlw.1_Missense_Mutation_p.S325C|ZNF800_uc003vly.1_Missense_Mutation_p.S422C|ZNF800_uc010lla.2_Missense_Mutation_p.S422C NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGGGTAATGGAAGGGGGTGA 0.353 NaN 0 0 0 1 0 55 84 KIAA1549 57670 broad.mit.edu 37 7 138604031 138604031 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:138604031G>C uc011kql.1 - 2 390 c.341C>G c.(340-342)TCT>TGT p.S114C KIAA1549_uc003vuk.3_Missense_Mutation_p.S64C|KIAA1549_uc011kqj.1_Missense_Mutation_p.S114C NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 114 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AGTAGTGGCAGACGGCGGGGC 0.517 NaN O BRAF pilocytic astrocytoma 0 0 0 1 0 58 55 KLRG2 346689 broad.mit.edu 37 7 139168067 139168067 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:139168067C>G uc003vvb.2 - 1 391 c.322G>C c.(322-324)GAG>CAG p.E108Q KLRG2_uc010lnc.2_Missense_Mutation_p.E108Q NM_198508 NP_940910 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, 108 Pro-rich. integral to membrane sugar binding central_nervous_system(1) 1 Melanoma(164;0.233) CCGGGCGCCTCGCCATTCCGG 0.771 NaN 0 0 0 1 0 6 6 DENND2A 27147 broad.mit.edu 37 7 140258011 140258011 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:140258011C>T uc010lnj.2 - 9 2036 c.1891G>A c.(1891-1893)GAA>AAA p.E631K DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.E631K|DENND2A_uc003vvw.2_Missense_Mutation_p.E631K|DENND2A_uc003vvx.2_Missense_Mutation_p.E631K NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 631 UDENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) GAGAATGTTTCACTGTGGTTG 0.473 NaN 0 0 0 1 0 29 32 C7orf33 202865 broad.mit.edu 37 7 148288196 148288196 + Nonsense_Mutation SNP T T A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:148288196T>A uc003wew.2 + 1 540 c.179T>A c.(178-180)TTG>TAG p.L60* NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 60 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CAATTTAACTTGTCATATGCC 0.493 NaN 0 0 0 1 0 61 87 ZNF777 27153 broad.mit.edu 37 7 149153043 149153043 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:149153043G>A uc003wfv.2 - 2 234 c.71C>T c.(70-72)CCT>CTT p.P24L NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAGTCCAGCAGGGGCCTGACG 0.547 NaN 0 0 0 1 0 39 54 KRBA1 84626 broad.mit.edu 37 7 149419541 149419541 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:149419541G>A uc003wfz.2 + 6 894 c.495G>A c.(493-495)AGG>AGA p.R165R KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 165 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCTACAAGGAAGGAAGGCC 0.607 NaN 0 0 0 1 0 3 9 NOS3 4846 broad.mit.edu 37 7 150699303 150699303 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:150699303G>A uc003wif.2 + 14 1959 c.1663G>A c.(1663-1665)GAG>AAG p.E555K NOS3_uc011kuy.1_Missense_Mutation_p.E349K|NOS3_uc011kuz.1_Missense_Mutation_p.E555K|NOS3_uc011kva.1_Missense_Mutation_p.E555K|NOS3_uc011kvb.1_Missense_Mutation_p.E555K NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 555 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GTGTATGGATGAGTATGACGT 0.602 NaN 0 0 0 1 0 6 12 MLL3 58508 broad.mit.edu 37 7 151877000 151877000 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:151877000C>G uc003wla.2 - 37 7580 c.7361G>C c.(7360-7362)AGA>ACA p.R2454T MLL3_uc003wkz.2_Missense_Mutation_p.R1515T|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2454 Pro-rich. 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) AACAGCATATCTAGGTCCTAA 0.478 NaN N medulloblastoma 0 0 0 1 0 86 99 MLL3 58508 broad.mit.edu 37 7 151878836 151878836 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:151878836C>G uc003wla.2 - 36 6328 c.6109G>C c.(6109-6111)GAT>CAT p.D2037H MLL3_uc003wkz.2_Missense_Mutation_p.D1098H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2037 Pro-rich. 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) GGACCACTATCAAGAGGTGCA 0.468 NaN N medulloblastoma 0 0 0 1 0 53 74 MLL3 58508 broad.mit.edu 37 7 151945114 151945114 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr7:151945114G>A uc003wla.2 - 14 2624 c.2405C>T c.(2404-2406)TCA>TTA p.S802L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 802 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) ACTAAGAGCTGAAGGGTAATT 0.423 NaN N medulloblastoma 0 0 0 1 0 37 740 PCM1 5108 broad.mit.edu 37 8 17813081 17813081 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:17813081C>G uc003wyi.3 + 10 1813 c.1391C>G c.(1390-1392)TCT>TGT p.S464C PCM1_uc011kyh.1_Missense_Mutation_p.S464C|PCM1_uc003wyj.3_Missense_Mutation_p.S464C|PCM1_uc003wyh.2_Missense_Mutation_p.S503C|PCM1_uc010lta.1_Missense_Mutation_p.S503C NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 464 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) CTCACATCATCTGTTCCTTAT 0.433 NaN T RET|JAK2 papillary thyroid|CML|MPD 0 0 0 1 0 23 33 CHD7 55636 broad.mit.edu 37 8 61654025 61654025 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:61654025G>A uc003xue.2 + 2 511 c.34G>A c.(34-36)GAG>AAG p.E12K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 12 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCTTTTTGGCGAGGATGGGAA 0.488 NaN 0 0 0 1 0 13 9 KCNB2 9312 broad.mit.edu 37 8 73848265 73848265 + Silent SNP A A G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:73848265A>G uc003xzb.2 + 3 1263 c.675A>G c.(673-675)GGA>GGG p.G225G NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 225 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ACGAATTTGGACAACTCAATG 0.468 NaN 0 0 0 1 0 60 73 RALYL 138046 broad.mit.edu 37 8 85785626 85785626 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:85785626G>C uc003ycq.3 + 8 1095 c.679G>C c.(679-681)GAG>CAG p.E227Q RALYL_uc003ycr.3_Missense_Mutation_p.E227Q|RALYL_uc003ycs.3_Missense_Mutation_p.E227Q|RALYL_uc010lzy.2_Missense_Mutation_p.E216Q|RALYL_uc003yct.3_Missense_Mutation_p.E240Q|RALYL_uc003ycu.3_Missense_Mutation_p.E154Q|RALYL_uc003ycv.3_Missense_Mutation_p.E139Q NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 227 Potential. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 GCAGAAGGCGGAGGCAGGTAA 0.463 NaN 0 0 0 1 0 4 4 ESRP1 54845 broad.mit.edu 37 8 95680397 95680397 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:95680397G>C uc003ygq.3 + 10 1335 c.1152G>C c.(1150-1152)CAG>CAC p.Q384H ESRP1_uc003ygr.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygs.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygt.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygu.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygv.2_Missense_Mutation_p.Q224H|ESRP1_uc003ygw.2_Missense_Mutation_p.Q224H NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 384 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 AATATGCACAGAATGCGTTGA 0.458 NaN 0 0 0 1 0 47 50 UBR5 51366 broad.mit.edu 37 8 103323975 103323975 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:103323975G>A uc003ykr.1 - 19 2439 c.2406C>T c.(2404-2406)TTC>TTT p.F802F UBR5_uc003yks.1_Silent_p.F802F NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 802 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GTCCAGCAGTGAAAATGGCTA 0.413 NaN 0 0 0 1 0 105 90 PKHD1L1 93035 broad.mit.edu 37 8 110492333 110492333 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:110492333G>C uc003yne.2 + 55 9396 c.9292G>C c.(9292-9294)GAA>CAA p.E3098Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3098 Extracellular (Potential).|G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTCTTACAGAGAAGTTGTTTT 0.353 NaN HNSCC(38;0.096) 0 0 0 1 0 5 3 DEPDC6 64798 broad.mit.edu 37 8 120977541 120977541 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:120977541C>T uc003yow.3 + 4 682 c.495C>T c.(493-495)TTC>TTT p.F165F DEPDC6_uc011lid.1_Silent_p.F64F NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 165 DEP 2. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGCGCACCTTCATGGCATCTG 0.532 NaN 0 0 0 1 0 41 61 WISP1 8840 broad.mit.edu 37 8 134239872 134239872 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:134239872C>T uc003yub.2 + 5 1099 c.1023C>T c.(1021-1023)TTC>TTT p.F341F WISP1_uc003yuc.2_Silent_p.F254F|WISP1_uc010meb.2_Silent_p.F169F|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.F96F|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 341 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATGCCTGCTTCTGTAACCTGA 0.502 NaN 0 0 0 1 0 61 59 NDRG1 10397 broad.mit.edu 37 8 134266798 134266798 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:134266798G>C uc003yuh.2 - 9 1164 c.578C>G c.(577-579)TCC>TGC p.S193C NDRG1_uc003yuf.1_Missense_Mutation_p.S4C|NDRG1_uc003yug.2_Missense_Mutation_p.S193C|NDRG1_uc010mee.2_Missense_Mutation_p.S112C|NDRG1_uc010mef.2_Missense_Mutation_p.S127C|NDRG1_uc011ljh.1_Missense_Mutation_p.S21C|NDRG1_uc011lji.1_Intron NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 193 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AAAAAGGTGGGACACCACCAT 0.537 NaN 0 0 0 1 0 24 35 SLC45A4 57210 broad.mit.edu 37 8 142229062 142229062 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:142229062C>T uc003ywd.1 - 4 832 c.524G>A c.(523-525)TGG>TAG p.W175* SLC45A4_uc003ywc.1_Nonsense_Mutation_p.W175*|SLC45A4_uc010meq.1_Nonsense_Mutation_p.W173* NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 226 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGTCCGGAACCAGCTGCCCAG 0.647 NaN 0 0 0 1 0 89 89 ZNF623 9831 broad.mit.edu 37 8 144732634 144732634 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:144732634C>G uc003yzd.2 + 1 681 c.592C>G c.(592-594)CAG>GAG p.Q198E ZNF623_uc011lkp.1_Missense_Mutation_p.Q158E|ZNF623_uc003yzc.2_Missense_Mutation_p.Q158E NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 198 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CATTGAGCATCAGCGCGTTCA 0.473 NaN 0 0 0 1 0 57 62 EPPK1 83481 broad.mit.edu 37 8 144946756 144946756 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:144946756G>A uc003zaa.1 - 1 679 c.666C>T c.(664-666)CCC>CCT p.P222P NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 222 Plectin 5. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCCGAGCCGGGGGCACGCA 0.662 NaN 0 0 0 1 0 11 16 EXOSC4 54512 broad.mit.edu 37 8 145134907 145134907 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:145134907C>T uc003zau.2 + 2 343 c.233C>T c.(232-234)TCA>TTA p.S78L GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 78 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAATATAGTTCAGCGACCTTC 0.617 NaN 0 0 0 1 0 104 145 NFKBIL2 4796 broad.mit.edu 37 8 145661307 145661307 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr8:145661307C>T uc011llg.1 - 17 2524 c.2509G>A c.(2509-2511)GAG>AAG p.E837K uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 837 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ATGTCCAGCTCCAGCCAGTCC 0.622 NaN 0 0 0 1 0 9 17 DOCK8 81704 broad.mit.edu 37 9 446486 446486 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:446486C>G uc003zgf.2 + 44 5809 c.5697C>G c.(5695-5697)TTC>TTG p.F1899L DOCK8_uc010mgu.2_Missense_Mutation_p.F1201L|DOCK8_uc010mgv.2_Missense_Mutation_p.F1799L|DOCK8_uc003zgk.2_Missense_Mutation_p.F1357L NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1899 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCACCCCGTTCACCCTGGAGG 0.522 NaN 0 0 0 1 0 67 99 RFX3 5991 broad.mit.edu 37 9 3257090 3257090 + Nonsense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:3257090C>T uc003zhr.2 - 15 2027 c.1715G>A c.(1714-1716)TGG>TAG p.W572* RFX3_uc010mhd.2_Nonsense_Mutation_p.W572*|RFX3_uc003zhs.1_Nonsense_Mutation_p.W572* NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 572 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ATTGTCAAGCCACGCAGCCCA 0.498 NaN 0 0 0 1 0 64 71 FREM1 158326 broad.mit.edu 37 9 14824958 14824958 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:14824958G>A uc003zlm.2 - 11 2504 c.1914C>T c.(1912-1914)GAC>GAT p.D638D FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 638 CSPG 4. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TTGGAAGCTGGTCATCCACTG 0.383 NaN 0 0 0 1 0 28 33 PTPLAD2 401494 broad.mit.edu 37 9 21007098 21007098 + Missense_Mutation SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:21007098G>T uc010miq.1 - 7 683 c.637C>A c.(637-639)CAT>AAT p.H213N PTPLAD2_uc003zoj.1_Missense_Mutation_p.H176N|PTPLAD2_uc010mir.1_Missense_Mutation_p.H213N NM_001010915 NP_001010915 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain 213 Cytoplasmic (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity skin(1) 1 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) GAGTATAGATGACTGTAGGTA 0.348 NaN 1 0 2.80507e-11 1 2.86585e-11 27 50 UBAP2 55833 broad.mit.edu 37 9 33927842 33927842 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:33927842G>A uc003ztq.1 - 20 2437 c.2324C>T c.(2323-2325)GCG>GTG p.A775V UBAP2_uc011loc.1_Missense_Mutation_p.A684V|UBAP2_uc011lod.1_Missense_Mutation_p.A508V|UBAP2_uc011loe.1_Missense_Mutation_p.A530V|UBAP2_uc011lof.1_Missense_Mutation_p.A700V|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.A14V|UBAP2_uc003zto.1_Missense_Mutation_p.A14V|UBAP2_uc003ztp.1_Missense_Mutation_p.A14V NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 775 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GGATGCACTCGCGGGGGTCCC 0.642 NaN 0 0 0 1 0 84 106 KIAA1045 23349 broad.mit.edu 37 9 34976667 34976667 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:34976667G>A uc003zvq.2 + 5 957 c.779G>A c.(778-780)CGA>CAA p.R260Q KIAA1045_uc003zvr.2_Missense_Mutation_p.R260Q NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 260 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) CCTGAACATCGAGGCCACATA 0.632 NaN 0 0 0 1 0 51 77 SMC5 23137 broad.mit.edu 37 9 72962016 72962016 + Missense_Mutation SNP T T C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:72962016T>C uc004ahr.2 + 20 2720 c.2603T>C c.(2602-2604)ATT>ACT p.I868T SMC5_uc011lry.1_Missense_Mutation_p.I13T NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 868 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 TTGGATGAAATTGATGCTTTA 0.368 NaN 0 0 0 1 0 31 34 TRPM6 140803 broad.mit.edu 37 9 77390846 77390846 + Missense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:77390846C>A uc004ajl.1 - 24 3594 c.3356G>T c.(3355-3357)TGC>TTC p.C1119F TRPM6_uc004ajk.1_Missense_Mutation_p.C1114F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.C75F NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1119 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 TCGATGACAGCACAGGCGGCG 0.542 NaN 1 0 2.40265e-35 1 2.54814e-35 50 100 PCSK5 5125 broad.mit.edu 37 9 78796359 78796359 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:78796359G>C uc004ajz.2 + 16 2587 c.2049G>C c.(2047-2049)AAG>AAC p.K683N PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 683 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 ACGCCGACAAGAAGCGCTGCA 0.522 NaN 0 0 0 1 0 26 52 PSAT1 29968 broad.mit.edu 37 9 80912185 80912185 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:80912185C>G uc004ala.2 + 1 127 c.59C>G c.(58-60)TCA>TGA p.S20* PSAT1_uc004alb.2_Nonsense_Mutation_p.S20* NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 20 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) CTGCCGCACTCAGTAAGTCCC 0.697 NaN 0 0 0 1 0 14 14 KIF27 55582 broad.mit.edu 37 9 86485462 86485462 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:86485462C>G uc004ana.2 - 12 2873 c.2729G>C c.(2728-2730)GGT>GCT p.G910A KIF27_uc010mpw.2_Missense_Mutation_p.G844A|KIF27_uc010mpx.2_Intron NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 910 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TCCAAACGAACCTTTTCTCCT 0.348 NaN 0 0 0 1 0 26 34 ANP32B 10541 broad.mit.edu 37 9 100756947 100756947 + Missense_Mutation SNP A A T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:100756947A>T uc004aya.2 + 2 438 c.89A>T c.(88-90)AAT>ATT p.N30I NM_006401 NP_006392 Q92688 AN32B_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 30 LRR 1. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(62;0.0559) TGCAAATCAAATGATGGAAAA 0.363 NaN 0 0 0 1 0 32 52 OR13C4 138804 broad.mit.edu 37 9 107289386 107289386 + Silent SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:107289386G>A uc011lvn.1 - 1 105 c.105C>T c.(103-105)TAC>TAT p.Y35Y NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAATCACTACGTACATAACTA 0.413 NaN 0 0 0 1 0 68 81 FBXW2 26190 broad.mit.edu 37 9 123550366 123550366 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:123550366G>C uc004bkl.1 - 3 332 c.171C>G c.(169-171)CTC>CTG p.L57L FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkn.2_Silent_p.L89L|FBXW2_uc004bkm.1_Silent_p.L57L|FBXW2_uc010mvj.1_Silent_p.L57L NM_012164 NP_036296 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 57 F-box. proteolysis protein binding|ubiquitin-protein ligase activity urinary_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 GAAGGAGTTTGAGGAAGTCCC 0.463 NaN 0 0 0 1 0 45 64 C5 727 broad.mit.edu 37 9 123737147 123737147 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:123737147C>G uc004bkv.2 - 30 3957 c.3927G>C c.(3925-3927)TTG>TTC p.L1309F NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1309 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TGTCCATACTCAAGCGGAGTT 0.403 NaN 0 0 0 1 0 101 131 ZBTB6 10773 broad.mit.edu 37 9 125673538 125673538 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:125673538C>G uc004bnh.2 - 2 903 c.814G>C c.(814-816)GAT>CAT p.D272H NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGCCCTGATCTTGATTCCCA 0.428 NaN 0 0 0 1 0 23 39 ZBTB6 10773 broad.mit.edu 37 9 125673781 125673781 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:125673781C>G uc004bnh.2 - 2 660 c.571G>C c.(571-573)GAG>CAG p.E191Q NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCAGACTCTCTACTGTAGAC 0.353 NaN 0 0 0 1 0 35 36 GOLGA1 2800 broad.mit.edu 37 9 127689002 127689002 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:127689002C>G uc004bpc.2 - 7 760 c.418G>C c.(418-420)GAT>CAT p.D140H GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.D115H NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 140 Potential. Golgi cisterna membrane ovary(1) 1 TCAAGCTGATCCATCTTTTCT 0.343 NaN 0 0 0 1 0 53 113 GOLGA1 2800 broad.mit.edu 37 9 127691529 127691529 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:127691529C>T uc004bpc.2 - 5 609 c.267G>A c.(265-267)GAG>GAA p.E89E GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 89 Potential. Golgi cisterna membrane ovary(1) 1 TTTCAAGCTTCTCTTTTATCT 0.368 NaN 0 0 0 1 0 5 41 GOLGA1 2800 broad.mit.edu 37 9 127691531 127691531 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:127691531C>T uc004bpc.2 - 5 607 c.265G>A c.(265-267)GAG>AAG p.E89K GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 89 Potential. Golgi cisterna membrane ovary(1) 1 TCAAGCTTCTCTTTTATCTTC 0.363 NaN 0 0 0 1 0 5 42 NUP188 23511 broad.mit.edu 37 9 131767776 131767776 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:131767776C>T uc004bws.1 + 40 4726 c.4704C>T c.(4702-4704)TTC>TTT p.F1568F NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1568 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TGCGCCACTTCACCCCAGATG 0.577 NaN 0 0 0 1 0 40 61 BARHL1 56751 broad.mit.edu 37 9 135464731 135464731 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:135464731C>G uc004cbp.1 + 3 998 c.806C>G c.(805-807)TCC>TGC p.S269C NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 269 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) AGTCTGGTTTCCAACCTGGAC 0.672 NaN 0 0 0 1 0 90 99 CEL 1056 broad.mit.edu 37 9 135947083 135947083 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:135947083G>A uc010naa.1 + 11 2219 c.2203G>A c.(2203-2205)GAG>AAG p.E735K NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 732 16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GGGTGACTCTGAGGCTGCCCC 0.682 NaN 0 0 0 1 0 27 30 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:137328351C>T uc004cfb.2 + 10 1442 c.1280C>T c.(1279-1281)TCC>TTC p.S427F RXRA_uc004cfc.1_Missense_Mutation_p.S330F NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 0 0 0 1 0 71 105 SDCCAG3 10807 broad.mit.edu 37 9 139303520 139303520 + Splice_Site SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:139303520C>G uc004chi.2 - 3 426 c.221_splice c.e3-1 p.D74_splice SDCCAG3_uc004chj.2_Intron|SDCCAG3_uc004chk.2_Intron|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TAGCCAAAATCTGCAAAGAAA 0.458 NaN 0 0 0 1 0 47 96 MAN1B1 11253 broad.mit.edu 37 9 140003028 140003028 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:140003028C>G uc004cld.2 + 13 2120 c.2085C>G c.(2083-2085)ATC>ATG p.I695M MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.I368M|MAN1B1_uc004clg.1_RNA NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 695 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CTCTGCCTATCTGGACCCCTG 0.597 NaN 0 0 0 1 0 121 153 RNF208 727800 broad.mit.edu 37 9 140115104 140115104 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:140115104G>C uc004clz.1 - 1 672 c.561C>G c.(559-561)CCC>CCG p.P187P NM_031297 NP_112587 Q9H0X6 RN208_HUMAN ring finger protein 208 187 RING-type. zinc ion binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGCGGCAGGTGGGGCAGGAGA 0.652 NaN 0 0 0 1 0 14 42 RNF208 727800 broad.mit.edu 37 9 140115581 140115581 + Silent SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr9:140115581G>T uc004clz.1 - 1 195 c.84C>A c.(82-84)CTC>CTA p.L28L NM_031297 NP_112587 Q9H0X6 RN208_HUMAN ring finger protein 208 28 zinc ion binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CCTCCATCTTGAGGATGACAT 0.662 NaN 1 0 0.00152264 1 0.00153264 17 22 OFD1 8481 broad.mit.edu 37 X 13757019 13757019 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:13757019C>G uc004cvp.3 + 4 726 c.367C>G c.(367-369)CTC>GTC p.L123V OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.L122V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.L122V|OFD1_uc004cvv.3_Missense_Mutation_p.L122V NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 123 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 TACTTCCAGTCTCTACAAATC 0.284 NaN 0 0 0 1 0 63 5 CYBB 1536 broad.mit.edu 37 X 37664367 37664367 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:37664367C>T uc004ddr.2 + 10 1321 c.1260C>T c.(1258-1260)CTC>CTT p.L420L CYBB_uc011mkf.1_Silent_p.L388L|CYBB_uc011mkg.1_Silent_p.L153L NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 420 Cytoplasmic (Potential). L -> P (in XCGD). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CATCCATTCTCAAGTCAGTCT 0.473 NaN 0 0 0 1 0 39 6 KDM6A 7403 broad.mit.edu 37 X 44918318 44918318 + Missense_Mutation SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:44918318G>C uc004dge.3 + 11 1318 c.943G>C c.(943-945)GAA>CAA p.E315Q KDM6A_uc010nhk.2_Missense_Mutation_p.E315Q|KDM6A_uc011mkz.1_Missense_Mutation_p.E315Q|KDM6A_uc011mla.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlb.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlc.1_Missense_Mutation_p.E64Q|KDM6A_uc011mld.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 315 TPR 6. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TGATAAATCAGAAGCAAGTGC 0.328 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 1 0 42 7 KDM6A 7403 broad.mit.edu 37 X 44941858 44941858 + Nonsense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:44941858C>G uc004dge.3 + 21 3557 c.3182C>G c.(3181-3183)TCA>TGA p.S1061* KDM6A_uc011mkz.1_Nonsense_Mutation_p.S1113*|KDM6A_uc011mla.1_Nonsense_Mutation_p.S1016*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.S1068*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.S765*|KDM6A_uc011mld.1_Nonsense_Mutation_p.S700* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1061 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AAAGACCACTCAGATAGTGAA 0.313 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 1 0 39 4 CXorf36 79742 broad.mit.edu 37 X 45010958 45010958 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:45010958C>G uc004dgg.2 - 5 1316 c.1241G>C c.(1240-1242)AGA>ACA p.R414T NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 414 extracellular region lung(1) 1 GTCACACGTTCTCAGGGGCCT 0.537 NaN 0 0 0 1 0 96 11 RGAG4 340526 broad.mit.edu 37 X 71350506 71350506 + Silent SNP G G T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:71350506G>T uc010nlh.1 - 1 1246 c.885C>A c.(883-885)GCC>GCA p.A295A NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 295 ovary(2)|skin(1) 3 Renal(35;0.156) CATCCAGGTCGGCCATTTCTG 0.493 NaN 1 0 6.60522e-78 1 7.10351e-78 127 7 DCAF12L2 340578 broad.mit.edu 37 X 125299171 125299171 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:125299171C>T uc004euk.1 - 1 764 c.737G>A c.(736-738)CGT>CAT p.R246H NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 246 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 ATCCCTCGGACGGATGTGGGC 0.647 NaN 0 0 0 1 0 29 0 GPR101 83550 broad.mit.edu 37 X 136113144 136113144 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:136113144C>G uc011mwh.1 - 1 690 c.690G>C c.(688-690)AAG>AAC p.K230N NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 230 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGCTGTGTCTCTTGACATTGT 0.522 NaN 0 0 0 1 0 114 11 DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr11:108788635_108788637delTGA uc001pkm.2 + 17 2405_2407 c.2340_2342delTGA c.(2338-2343)AGTGAT>AGT p.D788del DDX10_uc001pkl.1_In_Frame_Del_p.D788del NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 788 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.31 NaN T NUP98 AML* NaN NaN NaN NaN NaN 7 45 --- --- ADAM21 8747 broad.mit.edu 37 14 70924869 70924871 + In_Frame_Del DEL ATG ATG - rs141326765 TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr14:70924869_70924871delATG uc001xmd.2 + 1 653_655 c.653_655delATG c.(652-657)CATGAT>CAT p.D219del NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 219 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GTGGTGAACCATGATTTCTTCAT 0.414 NaN NaN NaN NaN NaN NaN 7 177 --- --- MSL1 339287 broad.mit.edu 37 17 38289813 38289822 + Frame_Shift_Del DEL AAAGAATTTT AAAGAATTTT - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:38289813_38289822delAAAGAATTTT uc002hub.2 + 7 999_1008 c.980_989delAAAGAATTTT c.(979-990)CAAAGAATTTTAfs p.Q327fs MSL1_uc002hua.3_Frame_Shift_Del_p.Q265fs|MSL1_uc002hud.2_Frame_Shift_Del_p.Q67fs NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin 528_531 histone H4-K16 acetylation MSL complex 0 ATCAGGGAACAAAGAATTTTACAGCGACTG 0.39 NaN NaN NaN NaN NaN NaN 9 3 --- --- SCRN2 90507 broad.mit.edu 37 17 45915767 45915767 + Frame_Shift_Del DEL G G - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr17:45915767delG uc002imd.2 - 7 1114 c.988delC c.(988-990)CAGfs p.Q330fs SCRN2_uc002imc.2_Frame_Shift_Del_p.Q338fs|SCRN2_uc002imf.2_Frame_Shift_Del_p.Q330fs|SCRN2_uc002ime.2_RNA NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN secernin 2 isoform 1 330 proteolysis dipeptidase activity ovary(1) 1 GACAGCACCTGGGGGGCCTGG 0.577 NaN NaN NaN NaN NaN NaN 245 59 --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr18:57013193_57013194insT uc002lhz.2 - 8 944_945 c.912_913insA c.(910-915)AAAGAGfs p.K304fs NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 304_305 Lumenal (Potential). blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 NaN NaN NaN NaN NaN NaN 7 134 --- --- ZNF615 284370 broad.mit.edu 37 19 52505446 52505447 + Frame_Shift_Ins INS - - C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr19:52505446_52505447insC uc002pye.1 - 4 395_396 c.103_104insG c.(103-105)GACfs p.D35fs ZNF615_uc002pyf.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc010epi.1_Frame_Shift_Ins_p.D31fs|ZNF615_uc010ydg.1_Frame_Shift_Ins_p.D40fs NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CAACATCACGTCCCGGTACAGG 0.564 NaN NaN NaN NaN NaN NaN 204 180 --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:29295647_29295649delTCC uc002rmt.1 - 1 1479_1481 c.1479_1481delGGA c.(1477-1482)GAGGAA>GAA p.493_494EE>E NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 493_494 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CATTTTGTCTTCCTCCTCCTCCT 0.542 NaN NaN NaN NaN NaN NaN 7 265 --- --- KDM3A 55818 broad.mit.edu 37 2 86693893 86693894 + Frame_Shift_Ins INS - - A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr2:86693893_86693894insA uc002sri.3 + 10 1733_1734 c.1406_1407insA c.(1405-1407)GGAfs p.G469fs KDM3A_uc010ytj.1_Frame_Shift_Ins_p.G469fs|KDM3A_uc010ytk.1_Frame_Shift_Ins_p.G417fs NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 469 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 AACTGTTCAGGAAAAAAGGTAG 0.401 NaN NaN NaN NaN NaN NaN 41 87 --- --- DYNC1LI1 51143 broad.mit.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr3:32571050delT uc003cfb.3 - 11 1376 c.1288delA c.(1288-1290)ATTfs p.I430fs DYNC1LI1_uc011axh.1_Frame_Shift_Del_p.I314fs NM_016141 NP_057225 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 430 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity ovary(1) 1 TTTGGATCAATTTTTTTTGAC 0.398 NaN NaN NaN NaN NaN NaN 8 78 --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr5:124079813_124079815delCTC uc003ktq.1 - 1 991_993 c.868_870delGAG c.(868-870)GAGdel p.E290del ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 Potential. intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 NaN NaN NaN NaN NaN NaN 11 339 --- --- BAT5 7920 broad.mit.edu 37 6 31660894 31660894 + Frame_Shift_Del DEL C C - TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chr6:31660894delC uc003nvy.1 - 7 566 c.536delG c.(535-537)GGTfs p.G179fs BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Frame_Shift_Del_p.G146fs|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Frame_Shift_Del_p.V81fs NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 179 integral to membrane hydrolase activity|protein binding 0 CAGGGCCACACCCCGGCGGGA 0.622 NaN NaN NaN NaN NaN NaN 24 66 --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda1a403-16b6-487c-a82a-c377d1d0f89d f7ffcce9-2a24-4abe-8f8c-b9ba6a770803 g.chrX:107977802_107977803insC uc004eoc.2 - 1 1805_1806 c.1772_1773insG c.(1771-1773)GGCfs p.G591fs NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTGAGCCTTTGCCCCCCCCAGA 0.545 NaN NaN NaN NaN NaN NaN 8 409 --- ---