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 AURKAIP1 54998 broad.mit.edu 37 1 1309762 1309762 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:1309762C>G uc001afb.1 - 2 226 c.116G>C c.(115-117)AGC>ACC p.S39T AURKAIP1_uc001afc.2_Missense_Mutation_p.S39T|AURKAIP1_uc001afd.2_Missense_Mutation_p.S39T|AURKAIP1_uc009vkb.1_Missense_Mutation_p.S39T NM_017900 NP_060370 Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 39 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGGCGATGTGCTGTAAAGGGG 0.706 NaN 0 0 0 0.00308 0 7 9 PER3 8863 broad.mit.edu 37 1 7887376 7887376 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:7887376C>T uc001aoo.2 + 17 2538 c.2363C>T c.(2362-2364)GCC>GTC p.A788V PER3_uc009vmg.1_Missense_Mutation_p.A796V|PER3_uc009vmh.1_Missense_Mutation_p.A789V|PER3_uc001aop.2_Missense_Mutation_p.A796V|PER3_uc010nzw.1_Missense_Mutation_p.A477V NM_016831 NP_058515 P56645 PER3_HUMAN period 3 788 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCCCACCTGCCGCCATGGTG 0.701 NaN 0 0 0 0.01441 0 46 85 SLC45A1 50651 broad.mit.edu 37 1 8386045 8386045 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8386045G>A uc001apb.2 + 3 658 c.658G>A c.(658-660)GAC>AAC p.D220N NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 220 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTACATGATGGACGTGTGCAG 0.662 NaN 0 0 0 0.01441 0 65 167 SLC45A1 50651 broad.mit.edu 37 1 8390858 8390858 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8390858G>A uc001apb.2 + 4 1305 c.1305G>A c.(1303-1305)CTG>CTA p.L435L SLC45A1_uc001apc.2_Silent_p.L133L NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 435 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGGACATTCTGAGGGTGGGCT 0.662 NaN 0 0 0 0.013726 0 28 83 SLC45A1 50651 broad.mit.edu 37 1 8399581 8399581 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:8399581C>T uc001apb.2 + 7 1803 c.1803C>T c.(1801-1803)CTC>CTT p.L601L SLC45A1_uc001apc.2_Silent_p.L299L NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 601 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGTTCCTCAGCGTCCGCA 0.637 NaN 0 0 0 0.011902 0 40 85 FBXO2 26232 broad.mit.edu 37 1 11708769 11708769 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:11708769G>A uc001asj.2 - 6 1215 c.873C>T c.(871-873)AGC>AGT p.S291S FBXO2_uc009vna.2_Silent_p.S294S NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 291 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) CTACCCACACGCTGCTGTTGG 0.657 NaN 0 0 0 0.01441 0 40 69 PADI1 29943 broad.mit.edu 37 1 17552410 17552410 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:17552410G>A uc001bah.1 + 5 605 c.513G>A c.(511-513)CTG>CTA p.L171L NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 171 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) ACAGCTGGCTGATGTCGCTGG 0.612 NaN 0 0 0 0.01441 0 111 223 ARID1A 8289 broad.mit.edu 37 1 27057835 27057835 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:27057835C>T uc001bmv.1 + 3 1916 c.1543C>T c.(1543-1545)CAG>TAG p.Q515* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q132* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 515 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) CCAGTCCTCTCAGCCTCCATA 0.632 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 237 398 TRNAU1AP 54952 broad.mit.edu 37 1 28898397 28898397 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:28898397G>C uc001bqi.2 + 8 806 c.712G>C c.(712-714)GAT>CAT p.D238H TRNAU1AP_uc001bqh.2_Missense_Mutation_p.D128H|TRNAU1AP_uc010ofw.1_Missense_Mutation_p.D128H NM_017846 NP_060316 Q9NX07 TSAP1_HUMAN tRNA selenocysteine associated protein 1 238 selenocysteine incorporation cytoplasm|nucleus nucleotide binding|RNA binding 0 AGAAGTTGGAGATGATGCATT 0.333 NaN 0 0 0 0.01441 0 40 88 BSDC1 55108 broad.mit.edu 37 1 32849566 32849566 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:32849566C>T uc001bvh.3 - 4 269 c.222G>A c.(220-222)ATG>ATA p.M74I BSDC1_uc010ohg.1_Missense_Mutation_p.M91I|BSDC1_uc010ohh.1_Intron|BSDC1_uc010ohi.1_Intron|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Intron|BSDC1_uc001bvi.2_Missense_Mutation_p.M91I NM_018045 NP_060515 Q9NW68 BSDC1_HUMAN BSD domain containing 1 isoform b 74 protein binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCCTTTCTTCATCTTCTCTG 0.547 NaN 0 0 0 0.009535 0 27 95 EIF2C4 192670 broad.mit.edu 37 1 36301442 36301442 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:36301442G>A uc001bzj.1 + 13 1762 c.1572G>A c.(1570-1572)GTG>GTA p.V524V NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 524 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAGCGGAGGTGAAACGTGTTG 0.368 NaN 0 0 0 0.00308 0 8 22 RLF 6018 broad.mit.edu 37 1 40705282 40705282 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:40705282C>G uc001cfc.3 + 8 4939 c.4908C>G c.(4906-4908)ATC>ATG p.I1636M RLF_uc001cfd.3_Missense_Mutation_p.I1327M NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1636 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GTGCACCCATCCAGAACACTG 0.468 NaN 0 0 0 0.011902 0 37 57 SMAP2 64744 broad.mit.edu 37 1 40875495 40875495 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:40875495C>G uc001cfj.2 + 4 455 c.390C>G c.(388-390)ATC>ATG p.I130M SMAP2_uc010ojh.1_Missense_Mutation_p.I130M|SMAP2_uc001cfk.2_Missense_Mutation_p.I100M|SMAP2_uc010oji.1_Missense_Mutation_p.I47M NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 130 Arf-GAP. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) GTCTGGACATCAATGCCTTTA 0.373 NaN 0 0 0 0.007413 0 16 23 HIVEP3 59269 broad.mit.edu 37 1 42047045 42047045 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:42047045G>T uc001cgz.3 - 4 4637 c.3424C>A c.(3424-3426)CCA>ACA p.P1142T HIVEP3_uc001cha.3_Missense_Mutation_p.P1142T|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1142 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGAGACTGGTGGGGGCAGG 0.602 NaN 1 0 1.05635e-38 0.01441 1.15518e-38 59 129 PRDX1 5052 broad.mit.edu 37 1 45977057 45977057 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:45977057C>T uc001cnz.2 - 5 576 c.544G>A c.(544-546)GAT>AAT p.D182N PRDX1_uc001coa.2_Missense_Mutation_p.D182N|PRDX1_uc001cob.2_Missense_Mutation_p.D182N|PRDX1_uc001coc.2_Missense_Mutation_p.D182N NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 182 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity 0 Acute lymphoblastic leukemia(166;0.155) TTGATGGTATCACTGCCAGGT 0.493 NaN 0 0 0 0.01441 0 157 279 ACOT11 26027 broad.mit.edu 37 1 55066985 55066985 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:55066985G>A uc001cxm.1 + 9 1010 c.928G>A c.(928-930)GAG>AAG p.E310K ACOT11_uc001cxj.1_Missense_Mutation_p.E188K|ACOT11_uc001cxl.1_Missense_Mutation_p.E310K NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 310 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 CCAGGAGGCTGAGACCCACCG 0.642 NaN 0 0 0 0.011902 0 40 99 DOCK7 85440 broad.mit.edu 37 1 62993932 62993932 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:62993932C>T uc001daq.2 - 31 3860 c.3826G>A c.(3826-3828)GAT>AAT p.D1276N DOCK7_uc001dan.2_Missense_Mutation_p.D1137N|DOCK7_uc001dao.2_Missense_Mutation_p.D1137N|DOCK7_uc001dap.2_Missense_Mutation_p.D1245N|DOCK7_uc001dam.2_Missense_Mutation_p.D456N|DOCK7_uc010oov.1_Intron NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1276 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CTTTCATAATCATCAGTGGCT 0.408 NaN 0 0 0 0.001855 0 14 22 ROR1 4919 broad.mit.edu 37 1 64643839 64643839 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:64643839G>A uc001dbj.2 + 9 2514 c.2115G>A c.(2113-2115)GTG>GTA p.V705V uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 705 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 TTGAGATGGTGAGAAAACGGC 0.458 NaN 0 0 0 0.014323 0 23 58 SYDE2 84144 broad.mit.edu 37 1 85624533 85624533 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:85624533T>A uc009wcm.2 - 7 3534 c.3485A>T c.(3484-3486)GAT>GTT p.D1162V NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1162 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) GTTTTTTCGATCCACTGTAGA 0.363 NaN 0 0 0 0.00308 0 5 9 BRDT 676 broad.mit.edu 37 1 92433810 92433810 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:92433810C>A uc001dok.3 + 4 787 c.438C>A c.(436-438)ATC>ATA p.I146I BRDT_uc001dol.3_Silent_p.I146I|BRDT_uc010osz.1_Silent_p.I146I|BRDT_uc009wdf.2_Silent_p.I73I|BRDT_uc010ota.1_Silent_p.I100I|BRDT_uc010otb.1_Silent_p.I100I|BRDT_uc001dom.3_Silent_p.I146I NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGGAAAGAATCAAGAAAGGTA 0.398 NaN 1 0 7.93312e-07 0.00245 8.18569e-07 12 15 ABCA4 24 broad.mit.edu 37 1 94461703 94461703 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:94461703G>C uc001dqh.2 - 49 6882 c.6778C>G c.(6778-6780)CTG>GTG p.L2260V NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2260 Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGAGGGTGCAGAGGGAGGTCA 0.517 NaN 0 0 0 0.004656 0 22 64 CELSR2 1952 broad.mit.edu 37 1 109793958 109793958 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:109793958C>G uc001dxa.3 + 1 1318 c.1257C>G c.(1255-1257)CTC>CTG p.L419L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 419 Cadherin 3.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCAGTACTCCGAGTCACAG 0.547 NaN 0 0 0 0.01441 0 62 85 CELSR2 1952 broad.mit.edu 37 1 109795716 109795716 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:109795716C>T uc001dxa.3 + 1 3076 c.3015C>T c.(3013-3015)AGC>AGT p.S1005S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1005 Extracellular (Potential).|Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCTGGTGAGCCGGGCTACAG 0.567 NaN 0 0 0 0.00499 0 15 67 MAGI3 260425 broad.mit.edu 37 1 114226131 114226131 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:114226131G>A uc001edk.2 + 21 4122 c.3941G>A c.(3940-3942)CGA>CAA p.R1314Q MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1339 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) GGTAAGAGTCGAAGAATAGCA 0.453 NaN 0 0 0 0.004878 0 31 69 WDR3 10885 broad.mit.edu 37 1 118494605 118494605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:118494605G>A uc010oxe.1 + 17 1876 c.1810G>A c.(1810-1812)GCA>ACA p.A604T WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 604 WD 11. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ATAGGATGGAGCACTCATAGC 0.383 NaN 0 0 0 0.004672 0 3 96 HSD3B2 3284 broad.mit.edu 37 1 119958115 119958115 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:119958115G>C uc001ehs.2 + 1 846 c.73G>C c.(73-75)GAG>CAG p.E25Q HSD3B2_uc001eht.2_Missense_Mutation_p.E25Q|HSD3B2_uc001ehu.2_Missense_Mutation_p.E25Q NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 25 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GTTGGTGGAAGAGAAGGAACT 0.522 NaN 0 0 0 0.007413 0 18 73 SEC22B 9554 broad.mit.edu 37 1 145109581 145109581 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:145109581G>A uc001eml.1 + 5 383 c.243G>A c.(241-243)AAG>AAA p.K81K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 81 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 CCTTCCCTAAGACGTTGGCTT 0.423 NaN 0 0 0 0.003271 0 35 350 HRNR 388697 broad.mit.edu 37 1 152187575 152187575 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:152187575G>A uc001ezt.1 - 3 6606 c.6530C>T c.(6529-6531)TCT>TTT p.S2177F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2177 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGATCCAGACCCTTGTCG 0.637 NaN 0 0 0 0.01441 0 36 295 HRNR 388697 broad.mit.edu 37 1 152192129 152192129 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:152192129G>C uc001ezt.1 - 3 2052 c.1976C>G c.(1975-1977)TCT>TGT p.S659C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 659 6. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGACTAGGAGACTGGCCAGA 0.592 NaN 0 0 0 0.00308 0 8 284 FLAD1 80308 broad.mit.edu 37 1 154962840 154962840 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:154962840G>C uc001fgf.1 + 5 1744 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgg.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgh.1_Intron NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 464 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTTGGAAGCTGAGGGCAGCAT 0.602 NaN 0 0 0 0.003271 0 28 108 LMNA 4000 broad.mit.edu 37 1 156105709 156105709 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156105709G>A uc001fni.2 + 6 1203 c.954G>A c.(952-954)GCG>GCA p.A318A LMNA_uc001fnf.1_Silent_p.A318A|LMNA_uc001fng.2_Silent_p.A318A|LMNA_uc001fnh.2_Silent_p.A318A|LMNA_uc009wro.1_Silent_p.A318A|LMNA_uc010pgz.1_Silent_p.A206A|LMNA_uc001fnj.2_Silent_p.A237A|LMNA_uc001fnk.2_Silent_p.A219A|LMNA_uc009wrp.2_Missense_Mutation_p.R46Q|LMNA_uc010pha.1_5'UTR NM_170707 NP_733821 P02545 LMNA_HUMAN lamin A/C isoform 1 precursor 318 Coil 2.|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) CCAAGGAGGCGAAGCTTCGAG 0.657 NaN Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome 0 0 0 0.010504 0 19 41 HAPLN2 60484 broad.mit.edu 37 1 156593740 156593740 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156593740G>C uc001fpn.1 + 4 634 c.227G>C c.(226-228)GGG>GCG p.G76A HAPLN2_uc010phq.1_Missense_Mutation_p.G76A NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN brain link protein-1 precursor 76 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTGGAGCCTGGGGAGCTCCGG 0.682 NaN 0 0 0 0.00278 0 20 9 HAPLN2 60484 broad.mit.edu 37 1 156594201 156594201 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:156594201G>A uc001fpn.1 + 5 905 c.498G>A c.(496-498)GCG>GCA p.A166A NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN brain link protein-1 precursor 166 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTACGAGGCGAAGCAGGCGT 0.672 NaN 0 0 0 0.004007 0 13 27 CD1A 909 broad.mit.edu 37 1 158226040 158226040 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:158226040T>C uc001frt.2 + 3 1105 c.572T>C c.(571-573)CTT>CCT p.L191P NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 191 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTGGGTCTTCTTGATGCAGGA 0.468 NaN 0 0 0 0.01441 0 37 116 OR10Z1 128368 broad.mit.edu 37 1 158576243 158576243 + Missense_Mutation SNP C C G rs140704584 byFrequency TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:158576243C>G uc010pio.1 + 1 15 c.15C>G c.(13-15)AAC>AAG p.N5K NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GGCAGACCAACGTAACCTCCT 0.468 NaN 0 0 0 0.001168 0 6 66 NCSTN 23385 broad.mit.edu 37 1 160328025 160328025 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:160328025C>T uc001fvx.2 + 17 2218 c.2094C>T c.(2092-2094)TTC>TTT p.F698F NCSTN_uc001fvy.2_Silent_p.F678F|NCSTN_uc010pjf.1_Silent_p.F560F|NCSTN_uc001fvz.2_Silent_p.F478F|NCSTN_uc010pjg.1_Silent_p.F440F NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 698 Cytoplasmic (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGTCCTTTTCATTGCTCCCC 0.557 NaN 0 0 0 0.01441 0 51 601 NOS1AP 9722 broad.mit.edu 37 1 162337159 162337159 + Nonsense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:162337159G>T uc001gbv.2 + 10 1810 c.1423G>T c.(1423-1425)GAG>TAG p.E475* NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Nonsense_Mutation_p.E470*|NOS1AP_uc009wut.1_Nonsense_Mutation_p.E180* NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 475 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CGAGAGCGAGGAGCGCGACTC 0.657 NaN 1 0 0.00198382 0.001984 0.00201778 7 97 TEDDM1 127670 broad.mit.edu 37 1 182368982 182368982 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:182368982C>T uc001gpe.2 - 1 770 c.639G>A c.(637-639)CTG>CTA p.L213L NM_172000 NP_741997 Q5T9Z0 TEDM1_HUMAN putative membrane protein HE9 213 Helical; (Potential). integral to membrane ovary(2) 2 AGATTCCCAACAGGAATGAGG 0.488 NaN 0 0 0 0.007413 0 18 25 LAMC1 3915 broad.mit.edu 37 1 183086502 183086502 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:183086502C>G uc001gpy.3 + 9 1869 c.1612C>G c.(1612-1614)CTC>GTC p.L538V NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 538 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAAGCATCTCTCGAGTGGTC 0.488 NaN 0 0 0 0.007291 0 24 15 CACNA1S 779 broad.mit.edu 37 1 201030503 201030503 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:201030503G>A uc001gvv.2 - 25 3374 c.3147C>T c.(3145-3147)ATC>ATT p.I1049I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1049 III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAATGAGGATGATGTAGATGA 0.512 NaN 0 0 0 0.012213 0 32 33 CTSE 1510 broad.mit.edu 37 1 206320303 206320303 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:206320303G>A uc001hdu.2 + 4 564 c.446G>A c.(445-447)GGA>GAA p.G149E CTSE_uc001hdv.2_Missense_Mutation_p.G149E|CTSE_uc010prs.1_Missense_Mutation_p.G74E NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 149 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGGATCATTGGAGCCGACCAA 0.493 NaN 0 0 0 0.013726 0 30 35 IL24 11009 broad.mit.edu 37 1 207072706 207072706 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:207072706A>G uc001hes.1 + 3 360 c.86A>G c.(85-87)CAG>CGG p.Q29R IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.Q30R|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.Q30R|IL24_uc001hex.1_Intron NM_006850 NP_006841 Q13007 IL24_HUMAN interleukin 24 isoform 1 precursor 29 apoptosis extracellular space cytokine activity 0 Breast(84;0.201) TCTCAAATGCAGATGGTTGTG 0.587 NaN 0 0 0 0.010771 0 38 29 PFKFB2 5208 broad.mit.edu 37 1 207241622 207241622 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:207241622G>A uc001hfg.2 + 10 1064 c.955G>A c.(955-957)GAG>AAG p.E319K PFKFB2_uc010psc.1_Missense_Mutation_p.E221K|PFKFB2_uc001hfh.2_Missense_Mutation_p.E319K|PFKFB2_uc009xcc.2_Missense_Mutation_p.E277K|PFKFB2_uc010psd.1_Missense_Mutation_p.E133K NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 319 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) GGTGCCCTATGAGCAGTGGAA 0.473 NaN 0 0 0 0.006122 0 17 12 USH2A 7399 broad.mit.edu 37 1 216062088 216062088 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:216062088C>T uc001hku.1 - 41 8290 c.7903G>A c.(7903-7905)GAT>AAT p.D2635N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2635 Extracellular (Potential).|Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTGGAGTATCAGAGAACAGC 0.498 NaN HNSCC(13;0.011) 0 0 0 0.00245 0 15 21 NVL 4931 broad.mit.edu 37 1 224420909 224420909 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:224420909C>G uc001hok.2 - 21 2492 c.2449G>C c.(2449-2451)GAA>CAA p.E817Q NVL_uc001hol.2_Missense_Mutation_p.E711Q|NVL_uc010pvd.1_Missense_Mutation_p.E726Q|NVL_uc010pve.1_Missense_Mutation_p.E628Q|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 817 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) GTACCTTTTTCATTTCCACTC 0.383 NaN 0 0 0 0.008871 0 18 57 NVL 4931 broad.mit.edu 37 1 224477270 224477270 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:224477270C>T uc001hok.2 - 13 1534 c.1491G>A c.(1489-1491)CAG>CAA p.Q497Q NVL_uc001hol.2_Silent_p.Q391Q|NVL_uc010pvd.1_Silent_p.Q406Q|NVL_uc010pve.1_Silent_p.Q308Q|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 497 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) GATTTTTCTTCTGCTGTTCCT 0.473 NaN 0 0 0 0.014323 0 23 35 PSEN2 5664 broad.mit.edu 37 1 227071519 227071519 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:227071519G>A uc009xeo.1 + 5 682 c.255G>A c.(253-255)GCG>GCA p.A85A PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 85 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) AATACGGAGCGAAGCACGTGA 0.582 NaN 0 0 0 0.004878 0 34 131 LYST 1130 broad.mit.edu 37 1 235972637 235972637 + Missense_Mutation SNP G G A rs115019462 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:235972637G>A uc001hxj.2 - 5 1656 c.1481C>T c.(1480-1482)TCG>TTG p.S494L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S494L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 494 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) TGTACACATCGAATGATGAAG 0.398 NaN Chediak-Higashi_syndrome 0 0 0 0.00632 0 26 47 GPR158 57512 broad.mit.edu 37 10 25465209 25465209 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:25465209C>A uc001isj.2 + 1 920 c.860C>A c.(859-861)TCT>TAT p.S287Y LOC100128811_uc010qde.1_5'Flank NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 287 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACTCTTTCCTCTGCCATCTAC 0.612 NaN 1 0 1.56738e-10 0.004289 1.64344e-10 28 22 ARMC4 55130 broad.mit.edu 37 10 28151397 28151397 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28151397C>A uc009xky.2 - 18 2863 c.2765G>T c.(2764-2766)GGA>GTA p.G922V ARMC4_uc010qds.1_Missense_Mutation_p.G447V|ARMC4_uc010qdt.1_Missense_Mutation_p.G614V|ARMC4_uc001itz.2_Missense_Mutation_p.G922V NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 922 ARM 8. binding ovary(4)|skin(2) 6 AGGAACAACTCCATGATCTGT 0.299 NaN 1 0 1.91123e-38 0.01441 2.08684e-38 62 61 MPP7 143098 broad.mit.edu 37 10 28409311 28409311 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28409311G>C uc001iua.1 - 12 1103 c.699C>G c.(697-699)ATC>ATG p.I233M MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.I233M|MPP7_uc009xla.2_Missense_Mutation_p.I233M|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 233 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 AGAGGGCTTTGATAAACATCT 0.338 NaN 0 0 0 0.010818 0 31 36 WAC 51322 broad.mit.edu 37 10 28897267 28897267 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:28897267C>T uc001iuf.2 + 8 1157 c.1072C>T c.(1072-1074)CAG>TAG p.Q358* WAC_uc001iud.2_Nonsense_Mutation_p.Q313*|WAC_uc001iue.2_Nonsense_Mutation_p.Q48*|WAC_uc009xlb.2_Nonsense_Mutation_p.Q313*|WAC_uc001iug.2_Nonsense_Mutation_p.Q255*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q313* NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 358 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCCCTTACTTCAGGACCCAAA 0.458 NaN 0 0 0 0.001984 0 6 37 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:37430773G>A uc001iza.1 + 7 879 c.780G>A c.(778-780)ACG>ACA p.T260T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CACCTGACACGGCTGAAAGCT 0.493 NaN 0 0 0 0.004672 0 3 71 TMEM72 643236 broad.mit.edu 37 10 45430144 45430144 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:45430144G>C uc001jbn.2 + 5 587 c.390G>C c.(388-390)CTG>CTC p.L130L uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L12L NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 130 Helical; (Potential). integral to membrane 0 ACTTCCTTCTGAGCAAGCGGA 0.602 NaN 0 0 0 0.004007 0 16 148 FRMPD2 143162 broad.mit.edu 37 10 49393605 49393605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:49393605G>A uc001jgi.2 - 18 2457 c.2350C>T c.(2350-2352)CGT>TGT p.R784C FRMPD2_uc001jgh.2_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.2_Missense_Mutation_p.R762C NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 784 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCAAAACCACGATGTGGGTCA 0.502 NaN 0 0 0 0.00333 0 19 111 PCDH15 65217 broad.mit.edu 37 10 55826641 55826641 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:55826641G>C uc001jju.1 - 18 2491 c.2096C>G c.(2095-2097)TCA>TGA p.S699* PCDH15_uc010qhq.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.S711*|PCDH15_uc010qht.1_Nonsense_Mutation_p.S706*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.S699*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.S662*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.S628*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qia.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qib.1_Nonsense_Mutation_p.S677*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.S699* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 699 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGTGGCAGTTGAGGTCTTAAA 0.368 NaN HNSCC(58;0.16) 0 0 0 0.001984 0 6 89 ARID5B 84159 broad.mit.edu 37 10 63852165 63852165 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:63852165G>C uc001jlt.1 + 10 2969 c.2943G>C c.(2941-2943)GTG>GTC p.V981V NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 981 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CTCACCATGTGAGACTGGAGA 0.537 NaN 0 0 0 0.013726 0 32 131 STOX1 219736 broad.mit.edu 37 10 70645249 70645249 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:70645249T>C uc001jos.2 + 3 1784 c.1697T>C c.(1696-1698)ATA>ACA p.I566T STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.I456T NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 566 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 TCCATTTACATAAATGACCCT 0.418 NaN 0 0 0 0.003163 0 14 62 KIAA1279 26128 broad.mit.edu 37 10 70748916 70748916 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:70748916G>A uc001joy.2 + 1 424 c.328G>A c.(328-330)GAG>AAG p.E110K NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 110 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 CGACACGGAGGAGCTGTCGGC 0.682 NaN 0 0 0 0.00623 0 31 35 KIAA1274 27143 broad.mit.edu 37 10 72300935 72300935 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:72300935C>A uc001jrd.3 + 16 2267 c.1986C>A c.(1984-1986)CTC>CTA p.L662L KIAA1274_uc001jre.3_5'UTR NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 662 ovary(2)|central_nervous_system(1) 3 TCAGCTGCCTCAGCGGCCAGG 0.607 NaN 1 0 1.80625e-27 0.01441 1.96021e-27 62 67 PSAP 5660 broad.mit.edu 37 10 73581638 73581638 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:73581638T>C uc001jsm.2 - 8 1008 c.904A>G c.(904-906)ATT>GTT p.I302V PSAP_uc001jsl.2_Missense_Mutation_p.I26V NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 302 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 GGTACCTTAATGGGCTCCACC 0.408 NaN 0 0 0 0.013726 0 26 58 GHITM 27069 broad.mit.edu 37 10 85903844 85903844 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:85903844G>A uc001kcs.1 + 4 527 c.323G>A c.(322-324)GGA>GAA p.G108E GHITM_uc010qma.1_Missense_Mutation_p.E64K|GHITM_uc010qmb.1_Missense_Mutation_p.G38E NM_014394 NP_055209 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 108 Mitochondrial intermembrane (Potential). apoptosis integral to membrane|mitochondrial inner membrane 0 AATGAGATTGGAGCTATTGAA 0.398 NaN 0 0 0 0.01441 0 55 40 PIK3AP1 118788 broad.mit.edu 37 10 98408463 98408463 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:98408463C>G uc001kmq.2 - 7 1266 c.1138G>C c.(1138-1140)GAG>CAG p.E380Q PIK3AP1_uc001kmp.2_Missense_Mutation_p.E202Q NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 380 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CCGTGTTTCTCAGCGATGGTG 0.572 NaN 0 0 0 0.008361 0 25 23 RRP12 23223 broad.mit.edu 37 10 99160214 99160214 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:99160214C>T uc001knf.2 - 2 356 c.217G>A c.(217-219)GAA>AAA p.E73K RRP12_uc010qou.1_Missense_Mutation_p.E73K|RRP12_uc009xvn.2_Missense_Mutation_p.E73K NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 73 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCGGGGCTTCGCTTTTGCCC 0.562 NaN 0 0 0 0.01441 0 50 49 GSTO1 9446 broad.mit.edu 37 10 106022765 106022765 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:106022765G>A uc001kya.2 + 4 404 c.395G>A c.(394-396)AGA>AAA p.R132K NM_004832 NP_004823 P78417 GSTO1_HUMAN glutathione-S-transferase omega 1 132 GST C-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) AGCTTTATTAGAAGCCAAAAT 0.368 NaN 0 0 0 0.001855 0 11 13 GPAM 57678 broad.mit.edu 37 10 113928632 113928632 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:113928632G>C uc009xxy.1 - 10 1071 c.873C>G c.(871-873)CTC>CTG p.L291L GPAM_uc001kzp.2_Silent_p.L291L|GPAM_uc001kzq.1_Silent_p.L291L NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 291 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) AAGCTCTATAGAGAACATCTT 0.408 NaN 0 0 0 0.006999 0 31 30 GPAM 57678 broad.mit.edu 37 10 113928680 113928680 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:113928680G>A uc009xxy.1 - 10 1023 c.825C>T c.(823-825)TTC>TTT p.F275F GPAM_uc001kzp.2_Silent_p.F275F|GPAM_uc001kzq.1_Silent_p.F275F NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 275 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) TTCGTCGTATGAAGAAGCCCC 0.373 NaN 0 0 0 0.004289 0 27 34 FAM160B1 57700 broad.mit.edu 37 10 116621198 116621198 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:116621198G>A uc001lcb.2 + 17 2532 c.2197G>A c.(2197-2199)GAC>AAC p.D733N FAM160B1_uc001lcc.2_Intron NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 733 lung(1) 1 TACCAGTATTGACCACATCAC 0.368 NaN 0 0 0 0.004656 0 24 23 TRUB1 142940 broad.mit.edu 37 10 116734976 116734976 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:116734976A>T uc001lcd.2 + 8 949 c.888A>T c.(886-888)ACA>ACT p.T296T TRUB1_uc010qsl.1_Silent_p.T198T NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 296 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) ACAAATGGACAATTGATGACA 0.433 NaN 0 0 0 0.01441 0 69 69 FAM45A 404636 broad.mit.edu 37 10 120892117 120892117 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:120892117T>C uc001ldw.2 + 8 937 c.893T>C c.(892-894)ATA>ACA p.I298T FAM45A_uc010qsv.1_Missense_Mutation_p.I290T|FAM45A_uc010qsw.1_Missense_Mutation_p.I147T|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.I225T|FAM45A_uc010qsz.1_Missense_Mutation_p.I187T NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 298 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) AGCCACGTTATACAGGTAACT 0.522 NaN 0 0 0 0.01441 0 113 54 ATE1 11101 broad.mit.edu 37 10 123658448 123658448 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:123658448A>G uc001lfp.2 - 7 932 c.850T>C c.(850-852)TTC>CTC p.F284L ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Missense_Mutation_p.F188L|ATE1_uc010qtt.1_Missense_Mutation_p.F277L|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 284 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GACGACTTGAACTCTGGGTCC 0.438 NaN 0 0 0 0.01441 0 44 27 TACC2 10579 broad.mit.edu 37 10 123844550 123844550 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:123844550C>G uc001lfv.2 + 4 2895 c.2535C>G c.(2533-2535)CTC>CTG p.L845L TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L845L|TACC2_uc010qtv.1_Silent_p.L845L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 845 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TTGACGTGCTCAAGGAGCAGG 0.527 NaN 0 0 0 0.01441 0 103 66 PPP2R2D 55844 broad.mit.edu 37 10 133757494 133757494 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:133757494A>G uc001lks.2 + 4 644 c.401A>G c.(400-402)GAT>GGT p.D134G PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Missense_Mutation_p.D2G NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 167 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) AAGCCCATGGATCTTATGGTA 0.343 NaN 0 0 0 0.00308 0 8 8 SYCE1 93426 broad.mit.edu 37 10 135369290 135369290 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:135369290G>A uc001lno.2 - 10 818 c.713C>T c.(712-714)GCC>GTC p.A238V CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.A110V|SYCE1_uc009ybn.2_Missense_Mutation_p.A238V|SYCE1_uc001lnn.2_Missense_Mutation_p.A202V NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 238 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTACACTGTGGCTGCAGCCTC 0.632 NaN 0 0 0 0.01441 0 52 32 FRG2B 441581 broad.mit.edu 37 10 135439041 135439041 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:135439041G>T uc010qvg.1 - 4 452 c.399C>A c.(397-399)CAC>CAA p.H133Q NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 133 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTTCACTGTTGTGCACAGGAG 0.532 NaN 1 0 1.90571e-15 0.004289 2.02499e-15 38 59 TRPM5 29850 broad.mit.edu 37 11 2432685 2432685 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:2432685C>G uc001lwm.3 - 18 2688 c.2679G>C c.(2677-2679)GCG>GCC p.A893A TRPM5_uc010qxl.1_Silent_p.A893A|TRPM5_uc009ydn.2_Silent_p.A895A NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 893 Helical; (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGTGCAGCAGCGCCTGGGTGG 0.632 NaN 0 0 0 0.009718 0 44 30 OR6A2 8590 broad.mit.edu 37 11 6816047 6816047 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:6816047C>T uc001mes.1 - 1 1093 c.893G>A c.(892-894)CGC>CAC p.R298H NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTTGATTGCGCAGGCAGTA 0.488 NaN 0 0 0 0.003755 0 30 73 C11orf16 56673 broad.mit.edu 37 11 8947368 8947368 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:8947368G>C uc001mhb.3 - 5 970 c.846C>G c.(844-846)CTC>CTG p.L282L C11orf16_uc001mhc.3_Silent_p.L282L NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 282 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGCAGCCACAGAGGCAGCCCT 0.592 NaN 0 0 0 0.01441 0 88 78 IPO7 10527 broad.mit.edu 37 11 9435902 9435902 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:9435902G>A uc001mho.2 + 5 722 c.580G>A c.(580-582)GAT>AAT p.D194N NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 194 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) TGACCAGTCTGATCAGTCTGT 0.398 NaN 0 0 0 0.01441 0 66 68 PDE3B 5140 broad.mit.edu 37 11 14665990 14665990 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:14665990C>T uc001mln.2 + 1 722 c.369C>T c.(367-369)TTC>TTT p.F123F PDE3B_uc001mlm.2_Silent_p.F123F|PDE3B_uc010rcr.1_Silent_p.F123F|PSMA1_uc001mll.2_5'Flank NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 123 Helical; (Potential). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 GCCCCCTCTTCAGCATCGCCT 0.716 NaN 0 0 0 0.00623 0 33 32 E2F8 79733 broad.mit.edu 37 11 19256466 19256466 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:19256466C>T uc001mpm.2 - 5 1113 c.591G>A c.(589-591)GGG>GGA p.G197G E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.G197G NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 197 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TATTCTCCTCCCCGATGCTCT 0.428 NaN 0 0 0 0.010504 0 15 86 MADD 8567 broad.mit.edu 37 11 47350217 47350217 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:47350217A>G uc001ner.1 + 35 4992 c.4801A>G c.(4801-4803)ATT>GTT p.I1601V MADD_uc001neq.2_Missense_Mutation_p.I1542V|MADD_uc001nev.1_Silent_p.K1475K|MADD_uc001nes.1_Missense_Mutation_p.I1519V|MADD_uc001net.1_Missense_Mutation_p.I1562V|MADD_uc009yln.1_Missense_Mutation_p.I1495V|MADD_uc001neu.1_Missense_Mutation_p.I1499V|MADD_uc001nex.2_Silent_p.K1577K|MADD_uc001nez.2_Missense_Mutation_p.I1498V|MADD_uc001new.2_Missense_Mutation_p.I1541V NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1601 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) AGTTCCTGAAATTAAAGAAGT 0.577 NaN 0 0 0 0.003163 0 13 43 OR9G4 283189 broad.mit.edu 37 11 56510978 56510978 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:56510978C>T uc010rjo.1 - 1 310 c.310G>A c.(310-312)GAT>AAT p.D104N NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 104 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATGCGCTTATCTTCTGAGACA 0.458 NaN 0 0 0 0.01441 0 57 77 MRPL16 54948 broad.mit.edu 37 11 59578113 59578113 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:59578113G>A uc001noh.2 - 1 233 c.19C>T c.(19-21)CGC>TGC p.R7C NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 7 rRNA binding central_nervous_system(1) 1 GCACTAGCGCGAGCCAGCAGC 0.652 NaN 0 0 0 0.01441 0 45 80 MS4A4A 51338 broad.mit.edu 37 11 60070049 60070049 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:60070049A>G uc001noz.2 + 5 415 c.405A>G c.(403-405)GGA>GGG p.G135G MS4A4A_uc001npa.2_Silent_p.G116G|MS4A4A_uc001npb.2_Silent_p.G116G|MS4A4A_uc001npc.2_Intron NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 135 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTAGTCTAGGAATGAATATCA 0.303 NaN 0 0 0 0.004007 0 14 69 DDB1 1642 broad.mit.edu 37 11 61099151 61099151 + Missense_Mutation SNP G G A rs35597036 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61099151G>A uc001nrc.3 - 2 300 c.74C>T c.(73-75)TCG>TTG p.S25L DDB1_uc010rle.1_Missense_Mutation_p.S25L|DDB1_uc010rlf.1_Missense_Mutation_p.S25L|DDB1_uc001nrd.2_Missense_Mutation_p.S25L|DDB1_uc009ynl.1_Missense_Mutation_p.S25L|DAK_uc001nre.2_5'Flank NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 25 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 GTCTTCGGCCGAAGTAAAGTG 0.468 NaN NER 0 0 0 0.003954 0 19 70 FADS1 3992 broad.mit.edu 37 11 61570834 61570834 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61570834C>T uc010rlm.1 - 9 1376 c.1248_splice c.e9+1 p.Q416_splice FADS1_uc001nsh.2_Splice_Site_p.Q275_splice NM_013402 NP_037534 O60427 FADS1_HUMAN fatty acid desaturase 1 cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1) 1 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTGTCCCTTACCTGGGTGGAA 0.458 NaN 0 0 0 0.01441 0 78 196 FADS1 3992 broad.mit.edu 37 11 61580784 61580784 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:61580784C>T uc010rlm.1 - 2 545 c.417G>A c.(415-417)AAG>AAA p.K139K FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.2_5'UTR|FADS1_uc010rln.1_5'UTR NM_013402 NP_037534 O60427 FADS1_HUMAN fatty acid desaturase 1 82 Cytoplasmic (Potential).|Cytochrome b5 heme-binding. cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1) 1 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCATATACTTCTTCACAAGGC 0.532 NaN 0 0 0 0.01441 0 103 154 EML3 256364 broad.mit.edu 37 11 62376050 62376050 + Silent SNP G G A rs138198368 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62376050G>A uc001ntu.1 - 9 1382 c.1074C>T c.(1072-1074)TTC>TTT p.F358F EML3_uc001ntr.1_Silent_p.F330F|EML3_uc001nts.1_Silent_p.F330F|EML3_uc001ntt.1_Silent_p.F242F|EML3_uc010rly.1_Silent_p.F358F|EML3_uc009yny.1_Silent_p.F141F NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 358 WD 2. cytoplasm|microtubule protein binding ovary(1) 1 CACCCCGCTCGAAGGCCCCCA 0.597 NaN 0 0 0 0.01441 0 51 348 TAF6L 10629 broad.mit.edu 37 11 62554200 62554200 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62554200C>T uc001nvc.2 + 11 1402 c.1301C>T c.(1300-1302)TCG>TTG p.S434L TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 434 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 CCTTCTCTTTCGGTGACCCTG 0.692 NaN OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008361 0 25 45 SLC22A8 9376 broad.mit.edu 37 11 62760793 62760793 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:62760793C>G uc001nwo.2 - 11 1681 c.1545G>C c.(1543-1545)AAG>AAC p.K515N SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.K392N|SLC22A8_uc010rmm.1_Missense_Mutation_p.K424N|SLC22A8_uc009yon.2_Missense_Mutation_p.K515N NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 515 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 GCTTTGGCTTCTTTGCCCGCA 0.632 NaN 0 0 0 0.010729 0 10 28 MARK2 2011 broad.mit.edu 37 11 63666130 63666130 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:63666130G>A uc001nxw.2 + 5 967 c.388G>A c.(388-390)GAG>AAG p.E130K MARK2_uc001nxx.2_Missense_Mutation_p.E130K|MARK2_uc001nxy.2_Missense_Mutation_p.E130K|MARK2_uc001nxv.3_Missense_Mutation_p.E130K|MARK2_uc001nxz.3_Missense_Mutation_p.E97K|MARK2_uc009yoy.2_Missense_Mutation_p.E97K NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 130 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CCTTGTCATGGAGTACGCTAG 0.498 NaN 0 0 0 0.01441 0 47 121 PLCB3 5331 broad.mit.edu 37 11 64030227 64030227 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:64030227C>T uc001nzb.2 + 19 2302 c.2302C>T c.(2302-2304)CAG>TAG p.Q768* PLCB3_uc009ypg.1_Nonsense_Mutation_p.Q768*|PLCB3_uc009yph.1_Nonsense_Mutation_p.Q701*|PLCB3_uc009ypi.2_Nonsense_Mutation_p.Q768* NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 768 C2. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CCGGACCTCTCAGGGGAACTC 0.637 NaN 0 0 0 0.01441 0 165 227 CAPN1 823 broad.mit.edu 37 11 64972254 64972254 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:64972254C>G uc009yqd.1 + 11 1377 c.1266C>G c.(1264-1266)GCC>GCG p.A422A CAPN1_uc001odf.1_Silent_p.A422A|CAPN1_uc001odg.1_Silent_p.A422A|CAPN1_uc010roa.1_Silent_p.A163A NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 422 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) TCGTGCTCGCCCTTATGCAGA 0.637 NaN OREG0021073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009718 0 39 84 KCNK7 10089 broad.mit.edu 37 11 65363055 65363055 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:65363055C>A uc001oes.2 - 1 413 c.189G>T c.(187-189)CTG>CTT p.L63L KCNK7_uc001oeq.2_Silent_p.L63L|KCNK7_uc001oer.2_Silent_p.L63L|KCNK7_uc001oeu.2_Silent_p.L63L NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 isoform 63 integral to membrane potassium channel activity|voltage-gated ion channel activity 0 GCAGCTCTTCCAGAGCTCCGG 0.687 NaN 1 0 0.000157383 0.00308 0.000160996 8 7 SLC29A2 3177 broad.mit.edu 37 11 66134033 66134033 + Missense_Mutation SNP C C T rs141666252 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:66134033C>T uc001oht.2 - 8 965 c.736G>A c.(736-738)GAG>AAG p.E246K SLC29A2_uc001ohs.2_Missense_Mutation_p.E126K|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.E126K|SLC29A2_uc001ohu.2_Missense_Mutation_p.E246K|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 246 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 ATCCCGTTCTCATCTGGGGTG 0.577 NaN 0 0 0 0.012213 0 25 66 INPPL1 3636 broad.mit.edu 37 11 71949115 71949115 + Silent SNP C C T rs34634942 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:71949115C>T uc001osf.2 + 27 3729 c.3582C>T c.(3580-3582)AGC>AGT p.S1194S INPPL1_uc001osg.2_Silent_p.S952S NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1194 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 GGCGGGCCAGCGGGCTGGGCG 0.652 NaN OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 10 53 ARHGEF17 9828 broad.mit.edu 37 11 73066682 73066682 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:73066682C>G uc001otu.2 + 4 3579 c.3558C>G c.(3556-3558)CTC>CTG p.L1186L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1186 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CTGCCTTTCTCAAGTTCCTAG 0.557 NaN 0 0 0 0.01441 0 34 88 MYO7A 4647 broad.mit.edu 37 11 76903243 76903243 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:76903243T>A uc001oyb.2 + 31 4344 c.4072T>A c.(4072-4074)TCC>ACC p.S1358T MYO7A_uc010rsm.1_Missense_Mutation_p.S1347T|MYO7A_uc001oyc.2_Missense_Mutation_p.S1358T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.S569T NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1358 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GCACAGCCCCTCCGAGGACAA 0.622 NaN OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 79 107 SYTL2 54843 broad.mit.edu 37 11 85456690 85456690 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:85456690C>T uc010rth.1 - 3 655 c.379G>A c.(379-381)GCA>ACA p.A127T SYTL2_uc010rtg.1_Missense_Mutation_p.A127T|SYTL2_uc010rti.1_Missense_Mutation_p.A127T|SYTL2_uc010rtj.1_Missense_Mutation_p.A79T|SYTL2_uc001pbf.3_Missense_Mutation_p.A127T NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 127 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCGGGCTTGCTGGTGCTGCA 0.532 NaN 0 0 0 0.01441 0 78 192 TYR 7299 broad.mit.edu 37 11 88911234 88911234 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:88911234C>T uc001pcs.2 + 1 195 c.113C>T c.(112-114)CCG>CTG p.P38L NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 38 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGCTGTCCACCGTGGAGCGGG 0.547 NaN Oculocutaneous_Albinism 0 0 0 0.01441 0 48 50 GPR83 10888 broad.mit.edu 37 11 94134384 94134384 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:94134384G>T uc001pet.2 - 1 202 c.30C>A c.(28-30)CTC>CTA p.L10L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 10 integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAAGGGGAGGAGACAGAGCA 0.711 NaN 1 0 2.94398e-08 0.007413 3.06432e-08 18 46 KDM4DL 390245 broad.mit.edu 37 11 94759441 94759441 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:94759441G>C uc010ruf.1 + 1 1020 c.720G>C c.(718-720)CGG>CGC p.R240R NM_001161630 NP_001155102 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4D-like 240 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CCTTCCTGCGGCACAAAGTGG 0.562 NaN 0 0 0 0.006122 0 17 20 CWF19L2 143884 broad.mit.edu 37 11 107205622 107205622 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:107205622T>A uc010rvp.1 - 16 2454 c.2424A>T c.(2422-2424)AAA>AAT p.K808N CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 808 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTCTGATATCTTTTGAAGAGA 0.338 NaN 0 0 0 0.003163 0 12 77 KDELC2 143888 broad.mit.edu 37 11 108357021 108357021 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:108357021G>A uc001pkj.2 - 3 613 c.547C>T c.(547-549)CCC>TCC p.P183S KDELC2_uc001pki.2_Missense_Mutation_p.P127S NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 183 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) AACCTTTTGGGGACTTCTTTT 0.423 NaN 0 0 0 0.01441 0 67 76 PCSK7 9159 broad.mit.edu 37 11 117089803 117089803 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:117089803G>C uc001pqr.2 - 11 1602 c.1401C>G c.(1399-1401)CTC>CTG p.L467L NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 467 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TCCAGGCGTTGAGGAGGCCGA 0.602 NaN T IGH@ MLCLS 0 0 0 0.009535 0 25 17 DSCAML1 57453 broad.mit.edu 37 11 117392001 117392001 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:117392001C>T uc001prh.1 - 6 1239 c.1237G>A c.(1237-1239)GAG>AAG p.E413K DSCAML1_uc001pri.1_Missense_Mutation_p.E217K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 353 Extracellular (Potential).|Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCACCAGCTCCGTGTTGCGA 0.627 NaN 0 0 0 0.01441 0 100 81 VPS11 55823 broad.mit.edu 37 11 118948319 118948319 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:118948319C>T uc010ryx.1 + 10 1576 c.1534C>T c.(1534-1536)CAT>TAT p.H512Y VPS11_uc010ryy.1_Missense_Mutation_p.H358Y NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 512 Clathrin. protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CCATGCACATCATGAGTGGTA 0.393 NaN 0 0 0 0.004482 0 8 14 H2AFX 3014 broad.mit.edu 37 11 118965872 118965872 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:118965872C>T uc001pvg.2 - 1 306 c.233G>A c.(232-234)CGA>CAA p.R78Q H2AFX_uc001pvh.1_RNA NM_002105 NP_002096 P16104 H2AX_HUMAN H2A histone family, member X 78 R -> L (in Ref. 2; CAG33360). DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GGGGATGATTCGCGTCTTCTT 0.682 NaN Chromatin_Structure|Direct_reversal_of_damage OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 38 225 MCAM 4162 broad.mit.edu 37 11 119181614 119181614 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119181614C>T uc001pwf.2 - 14 1675 c.1646_splice c.e14-1 p.E549_splice MCAM_uc001pwg.1_Splice_Site NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGCTTTCTCTCTGCGCCACAA 0.632 NaN 0 0 0 0.007835 0 34 182 MCAM 4162 broad.mit.edu 37 11 119182861 119182861 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119182861C>T uc001pwf.2 - 9 1073 c.1044G>A c.(1042-1044)GTG>GTA p.V348V MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 348 Ig-like C2-type 2.|Extracellular (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTGCGGGACTCACTCGGACGT 0.627 NaN 0 0 0 0.00499 0 15 93 MCAM 4162 broad.mit.edu 37 11 119183625 119183625 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:119183625C>G uc001pwf.2 - 6 623 c.594G>C c.(592-594)TCG>TCC p.S198S MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 198 Ig-like V-type 2.|Extracellular (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ACAAACCACTCGACTCCACAG 0.562 NaN 0 0 0 0.008871 0 18 94 PANX3 116337 broad.mit.edu 37 11 124489817 124489817 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:124489817G>C uc001qah.2 + 4 1165 c.1165G>C c.(1165-1167)GAT>CAT p.D389H TBRG1_uc001qak.3_5'Flank|TBRG1_uc001qaj.3_5'Flank|TBRG1_uc001qal.3_5'Flank|TBRG1_uc001qam.3_5'Flank|TBRG1_uc009zbf.2_5'Flank|TBRG1_uc009zbg.2_5'Flank|TBRG1_uc001qai.1_5'Flank NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 389 Cytoplasmic (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CTCGGCATGTGATGAACACCC 0.418 NaN 0 0 0 0.006999 0 34 47 PKNOX2 63876 broad.mit.edu 37 11 125280125 125280125 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:125280125G>C uc001qbu.2 + 8 936 c.622G>C c.(622-624)GGA>CGA p.G208R PKNOX2_uc010saz.1_Missense_Mutation_p.G179R|PKNOX2_uc010sba.1_Missense_Mutation_p.G179R|PKNOX2_uc010sbb.1_Missense_Mutation_p.G144R|PKNOX2_uc001qbv.2_5'Flank NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 208 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) TTCCATGTCCGGAGTCTCCAA 0.572 NaN 0 0 0 0.01441 0 108 217 JAM3 83700 broad.mit.edu 37 11 134010623 134010623 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:134010623G>A uc001qhb.1 + 3 373 c.349G>A c.(349-351)GAT>AAT p.D117N JAM3_uc009zcz.1_Missense_Mutation_p.D117N NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 72 Extracellular (Potential).|Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GAAAATTCAAGATGAACAAAC 0.438 NaN 0 0 0 0.00308 0 6 58 GLB1L2 89944 broad.mit.edu 37 11 134238561 134238561 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:134238561A>G uc001qhp.2 + 10 1101 c.913A>G c.(913-915)ATT>GTT p.I305V GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 305 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CGTGTCTGCCATTGTGGACGC 0.532 NaN 0 0 0 0.001855 0 12 72 IQSEC3 440073 broad.mit.edu 37 12 284199 284199 + Nonstop_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:284199G>C uc001qhw.1 + 11 2646 c.2640G>C c.(2638-2640)TAG>TAC p.*880Y NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 880 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCTGGTGTAGACTCTGCCCC 0.692 NaN 0 0 0 0.006122 0 16 15 WNK1 65125 broad.mit.edu 37 12 862795 862795 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:862795G>T uc001qio.3 + 1 571 c.64G>T c.(64-66)GCT>TCT p.A22S WNK1_uc001qin.2_Missense_Mutation_p.A22S|WNK1_uc001qip.3_Missense_Mutation_p.A22S NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 22 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTCGCCGCCGGCTCCTGCCCC 0.682 NaN 1 0 1.10923e-09 0.00278 1.15626e-09 20 37 NRIP2 83714 broad.mit.edu 37 12 2944040 2944040 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:2944040G>A uc001qlc.2 - 1 182 c.110C>T c.(109-111)CCC>CTC p.P37L NRIP2_uc010sed.1_Missense_Mutation_p.P37L|uc009zdz.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 37 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTCGGTGGGGGCGTCACCGA 0.632 NaN 0 0 0 0.011902 0 44 94 C1S 716 broad.mit.edu 37 12 7175803 7175803 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:7175803G>A uc001qsj.2 + 14 1958 c.1239G>A c.(1237-1239)GTG>GTA p.V413V C1S_uc001qsk.2_Silent_p.V413V|C1S_uc001qsl.2_Silent_p.V413V|C1S_uc009zfr.2_Silent_p.V246V|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 413 Sushi 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGAATGAGGTGCTGGGCCCGG 0.552 NaN 0 0 0 0.01441 0 44 106 A2M 2 broad.mit.edu 37 12 9242527 9242527 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:9242527C>G uc001qvk.1 - 21 2802 c.2689G>C c.(2689-2691)GAC>CAC p.D897H A2M_uc009zgk.1_Missense_Mutation_p.D747H NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 897 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) ATGACTGTGTCTTTCCTTCCG 0.368 NaN 0 0 0 0.00499 0 16 42 MANSC1 54682 broad.mit.edu 37 12 12483694 12483694 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:12483694A>G uc001rai.1 - 4 821 c.563T>C c.(562-564)ATG>ACG p.M188T MANSC1_uc010shm.1_Missense_Mutation_p.M122T|MANSC1_uc001raj.1_Missense_Mutation_p.M154T|MANSC1_uc009zht.1_Missense_Mutation_p.M107T NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 188 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TGCTTCATCCATCTTAAATAG 0.418 NaN 0 0 0 0.004656 0 21 38 SLCO1A2 6579 broad.mit.edu 37 12 21453315 21453315 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:21453315C>T uc001rer.2 - 7 1128 c.877G>A c.(877-879)GAG>AAG p.E293K SLCO1A2_uc001res.2_Missense_Mutation_p.E293K|SLCO1A2_uc010siq.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sio.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sip.1_Missense_Mutation_p.E161K|SLCO1A2_uc001ret.2_Missense_Mutation_p.E291K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E273K NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 293 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TTCTTGACCTCTTCTTTTTGT 0.299 NaN 0 0 0 0.009096 0 3 15 SLCO1A2 6579 broad.mit.edu 37 12 21453473 21453473 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:21453473C>T uc001rer.2 - 7 970 c.719G>A c.(718-720)CGT>CAT p.R240H SLCO1A2_uc001res.2_Missense_Mutation_p.R240H|SLCO1A2_uc010siq.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sio.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sip.1_Missense_Mutation_p.R108H|SLCO1A2_uc001ret.2_Missense_Mutation_p.R238H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R220H NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 240 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ACCGACCCAACGAGTGTCAGT 0.383 NaN 0 0 0 0.004672 0 3 25 STK38L 23012 broad.mit.edu 37 12 27470859 27470859 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:27470859A>G uc001rhr.2 + 11 1185 c.986A>G c.(985-987)CAA>CGA p.Q329R STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.Q236R|STK38L_uc010sjn.1_Missense_Mutation_p.Q67R|STK38L_uc010sjo.1_5'UTR NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 329 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1) 5 Colorectal(261;0.0847) GAAACACCTCAAGAAACGTAC 0.383 NaN 0 0 0 0.013537 0 11 21 DENND5B 160518 broad.mit.edu 37 12 31632937 31632937 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:31632937C>A uc001rki.1 - 3 676 c.490G>T c.(490-492)GAA>TAA p.E164* DENND5B_uc001rkh.1_Nonsense_Mutation_p.E199*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.E83*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.E186*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.E86* NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 164 integral to membrane ovary(1)|central_nervous_system(1) 2 GTATCTCCTTCATCAAGACTA 0.423 NaN 1 0 1.76056e-25 0.011902 1.90193e-25 40 79 MLL2 8085 broad.mit.edu 37 12 49443747 49443747 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49443747G>C uc001rta.3 - 11 3624 c.3624C>G c.(3622-3624)ATC>ATG p.I1208M NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1208 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCAGATTAGAGATCTCGTTAA 0.607 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.004656 0 26 43 LMBR1L 55716 broad.mit.edu 37 12 49494208 49494208 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49494208G>A uc001rth.3 - 15 1545 c.1203C>T c.(1201-1203)GTC>GTT p.V401V LMBR1L_uc001rtg.3_Silent_p.V396V|LMBR1L_uc001rti.3_Silent_p.V381V NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 401 Helical; (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 CTGAGCTTAGGACCAGGAGAC 0.453 NaN 0 0 0 0.01441 0 49 105 TROAP 10024 broad.mit.edu 37 12 49724323 49724323 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:49724323G>T uc001rtx.3 + 13 1862 c.1695G>T c.(1693-1695)GAG>GAT p.E565D TROAP_uc009zlh.2_Missense_Mutation_p.E565D|TROAP_uc001rty.2_Missense_Mutation_p.E273D NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 565 4 X 33 AA approximate tandem repeats.|Cys-rich.|2. cell adhesion cytoplasm ovary(1) 1 GTGAGCCTGAGATACCGGAGT 0.592 NaN 1 0 4.14922e-12 0.004007 4.37632e-12 15 56 NCKAP5L 57701 broad.mit.edu 37 12 50189089 50189089 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50189089C>T uc009zlk.2 - 8 2756 c.2554G>A c.(2554-2556)GAC>AAC p.D852N NCKAP5L_uc001rvc.3_Missense_Mutation_p.D56N|NCKAP5L_uc001rvb.2_Missense_Mutation_p.D445N NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 848 Pro-rich. central_nervous_system(1) 1 CTACCACAGTCTGCCCAGGGA 0.647 NaN 0 0 0 0.00623 0 32 146 LIMA1 51474 broad.mit.edu 37 12 50615999 50615999 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50615999G>C uc001rwj.3 - 4 609 c.435C>G c.(433-435)ATC>ATG p.I145M LIMA1_uc001rwh.3_Translation_Start_Site|LIMA1_uc001rwi.3_Translation_Start_Site|LIMA1_uc001rwk.3_Missense_Mutation_p.I145M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 145 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 CACCGTCCTTGATGTGGGGAT 0.453 NaN 0 0 0 0.010729 0 11 53 LIMA1 51474 broad.mit.edu 37 12 50616215 50616215 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:50616215C>T uc001rwj.3 - 4 393 c.219G>A c.(217-219)AAG>AAA p.K73K LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Silent_p.K73K|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 73 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 CCCACTTCTTCTTTAACACAG 0.498 NaN 0 0 0 0.01441 0 58 89 ATF1 466 broad.mit.edu 37 12 51207891 51207891 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:51207891C>T uc001rww.3 + 5 705 c.427C>T c.(427-429)CAG>TAG p.Q143* ATF1_uc010smu.1_Nonsense_Mutation_p.Q8* NM_005171 NP_005162 P18846 ATF1_HUMAN activating transcription factor 1 143 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(323)|FUS/ATF1(4) soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2) 329 AGGCAGTACTCAGCAAGGTAC 0.468 NaN T EWSR1|FUS malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 0 0 0 0.001855 0 14 63 NCKAP1L 3071 broad.mit.edu 37 12 54920519 54920519 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:54920519C>T uc001sgc.3 + 21 2443 c.2364C>T c.(2362-2364)CTC>CTT p.L788L NCKAP1L_uc010sox.1_Silent_p.L330L|NCKAP1L_uc010soy.1_Silent_p.L738L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 788 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TCACCACACTCTACACAAACT 0.512 NaN 0 0 0 0.004007 0 15 20 STAT2 6773 broad.mit.edu 37 12 56749506 56749506 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:56749506G>A uc001slc.2 - 4 445 c.367C>T c.(367-369)CAG>TAG p.Q123* STAT2_uc001sld.2_Nonsense_Mutation_p.Q119*|STAT2_uc010sqn.1_Nonsense_Mutation_p.Q119* NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 123 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TGGGCCCTCTGAGCCTGGATC 0.453 NaN 0 0 0 0.01441 0 44 74 STAC3 246329 broad.mit.edu 37 12 57638146 57638146 + Silent SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:57638146T>A uc001snp.2 - 10 1005 c.810A>T c.(808-810)CCA>CCT p.P270P STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.P231P|STAC3_uc010srm.1_Silent_p.P84P NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 270 SH3 1. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 TCTTCTCTCCTGGCCTGGGAG 0.587 NaN OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 19 71 C12orf56 115749 broad.mit.edu 37 12 64784273 64784273 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:64784273G>T uc001ssa.3 - 1 73 c.73C>A c.(73-75)CTG>ATG p.L25M uc001srx.2_Intron NM_001099676 NP_001093146 Q8IXR9 CL056_HUMAN hypothetical protein LOC115749 25 0 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TCGGGCGGCAGATGCCGCCGC 0.682 NaN 1 0 9.65021e-13 0.010818 1.01935e-12 29 46 IRAK3 11213 broad.mit.edu 37 12 66605248 66605248 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:66605248C>G uc001sth.2 + 5 561 c.459C>G c.(457-459)ATC>ATG p.I153M IRAK3_uc010ssy.1_Missense_Mutation_p.I92M NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 153 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) AATCTTCCATCAGCTTTCAAA 0.343 NaN 0 0 0 0.010729 0 10 14 FRS2 10818 broad.mit.edu 37 12 69968139 69968139 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:69968139G>A uc001suy.2 + 10 1441 c.931G>A c.(931-933)GGG>AGG p.G311R FRS2_uc001suz.2_Missense_Mutation_p.G311R|FRS2_uc009zrj.2_Missense_Mutation_p.G311R|FRS2_uc009zrk.2_Missense_Mutation_p.G311R NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 311 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAATATAAATGGGCTATCTAT 0.458 NaN 0 0 0 0.007291 0 28 48 C12orf12 196477 broad.mit.edu 37 12 91347544 91347544 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:91347544C>T uc001tbj.2 - 1 1410 c.976G>A c.(976-978)GAA>AAA p.E326K NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 326 Potential.|Glu-rich. central_nervous_system(1)|pancreas(1) 2 tccacatattcagcctcttcg 0.164 NaN 0 0 0 0.008291 0 10 23 CHST11 50515 broad.mit.edu 37 12 105151459 105151459 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:105151459G>A uc001tkx.1 + 4 1228 c.937G>A c.(937-939)GAA>AAA p.E313K CHST11_uc001tky.2_Missense_Mutation_p.E308K|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 313 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 AACTACTGATGAAATGACCAC 0.463 NaN 0 0 0 0.001855 0 12 30 FOXN4 121643 broad.mit.edu 37 12 109719382 109719382 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:109719382G>C uc001toe.3 - 9 1229 c.1124C>G c.(1123-1125)TCT>TGT p.S375C FOXN4_uc009zvg.2_Missense_Mutation_p.S172C|FOXN4_uc001tof.3_Missense_Mutation_p.S195C NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 375 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 TGGTGCTGGAGAGTCTGGAGC 0.682 NaN 0 0 0 0.008291 0 10 22 UBE3B 89910 broad.mit.edu 37 12 109940905 109940905 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:109940905T>A uc001top.2 + 14 1963 c.1360T>A c.(1360-1362)TCT>ACT p.S454T UBE3B_uc001toq.2_Missense_Mutation_p.S454T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S454T NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 454 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 ACGGGTCGACTCTGCAGAAGT 0.512 NaN 0 0 0 0.008871 0 19 87 BRAP 8315 broad.mit.edu 37 12 112087755 112087755 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:112087755G>A uc001tsn.3 - 11 1597 c.1403C>T c.(1402-1404)TCT>TTT p.S468F BRAP_uc010syh.1_Missense_Mutation_p.S289F|BRAP_uc009zvv.2_Missense_Mutation_p.S438F NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 468 Potential. MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 TCTTTCCACAGACTGCTTTTC 0.338 NaN 0 0 0 0.009096 0 3 38 SRRM4 84530 broad.mit.edu 37 12 119583320 119583320 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:119583320C>T uc001txa.1 + 9 1198 c.906C>T c.(904-906)GCC>GCT p.A302A NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 302 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CCAGCTCAGCCAGGTCTCGGG 0.622 NaN 0 0 0 0.001168 0 3 17 COQ5 84274 broad.mit.edu 37 12 120947870 120947870 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:120947870C>G uc001tyn.2 - 4 651 c.631G>C c.(631-633)GAT>CAT p.D211H COQ5_uc001tyo.2_Missense_Mutation_p.D130H|COQ5_uc010szj.1_Missense_Mutation_p.D137H NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 211 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGTAAATATCAAACTTGTCA 0.448 NaN 0 0 0 0.01441 0 38 59 P2RX7 5027 broad.mit.edu 37 12 121615184 121615184 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:121615184C>T uc001tzm.2 + 11 1219 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* P2RX7_uc001tzn.2_Nonsense_Mutation_p.Q285*|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Nonsense_Mutation_p.Q86*|P2RX7_uc001tzq.2_Nonsense_Mutation_p.Q205* NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 375 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGTGCTGTCAGCCCTGTGT 0.532 NaN 0 0 0 0.00245 0 13 58 KDM2B 84678 broad.mit.edu 37 12 121878735 121878735 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:121878735G>A uc001uat.2 - 21 3598 c.3494C>T c.(3493-3495)TCG>TTG p.S1165L KDM2B_uc001uaq.2_Missense_Mutation_p.S605L|KDM2B_uc010szy.1_Missense_Mutation_p.S605L|KDM2B_uc001uar.2_Missense_Mutation_p.S756L|KDM2B_uc001uas.2_Missense_Mutation_p.S1096L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.S413L|KDM2B_uc010szx.1_Missense_Mutation_p.S413L|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 1165 LRR 3. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 GCAAAGGGCCGAGACCGCGAT 0.637 NaN 0 0 0 0.00623 0 28 87 RSRC2 65117 broad.mit.edu 37 12 122991412 122991412 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:122991412T>C uc001ucr.2 - 9 1240 c.1094A>G c.(1093-1095)AAT>AGT p.N365S RSRC2_uc001uco.2_Missense_Mutation_p.N134S|RSRC2_uc001ucp.2_Missense_Mutation_p.N306S|RSRC2_uc001ucq.2_Missense_Mutation_p.N133S|RSRC2_uc001ucs.2_Missense_Mutation_p.N134S|RSRC2_uc001uct.2_Missense_Mutation_p.N317S|RSRC2_uc001ucu.2_Missense_Mutation_p.N366S NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 365 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) AAATTTGACATTTTGGTCCTT 0.289 NaN 0 0 0 0.006999 0 34 51 ABCB9 23457 broad.mit.edu 37 12 123434347 123434347 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:123434347C>T uc001udm.3 - 4 1145 c.835G>A c.(835-837)GAG>AAG p.E279K ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.E279K|ABCB9_uc010taj.1_Missense_Mutation_p.E279K|ABCB9_uc001udp.2_Missense_Mutation_p.E279K|ABCB9_uc001udq.2_Missense_Mutation_p.E61K|ABCB9_uc001udr.2_Missense_Mutation_p.E279K NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 279 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GTGCGGTTCTCATCAAAGAAG 0.572 NaN 0 0 0 0.005443 0 23 74 DNAH10 196385 broad.mit.edu 37 12 124330151 124330151 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:124330151G>A uc001uft.3 + 30 5036 c.5011G>A c.(5011-5013)GAC>AAC p.D1671N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1671 Stem (By similarity). 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) CTGCAGAGTCGACTGGATGCT 0.532 NaN 0 0 0 0.013726 0 25 32 DNAH10 196385 broad.mit.edu 37 12 124345611 124345611 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:124345611A>G uc001uft.3 + 38 6473 c.6448A>G c.(6448-6450)ATA>GTA p.I2150V NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2150 AAA 2 (By similarity). 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) CGTGAGTGTCATAGAACTCTA 0.483 NaN 0 0 0 0.010818 0 27 32 TMEM132B 114795 broad.mit.edu 37 12 125834468 125834468 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:125834468C>T uc001uhe.1 + 2 531 c.523C>T c.(523-525)CGG>TGG p.R175W NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 175 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCCAGCTGTCGGCTGCAAGG 0.612 NaN 0 0 0 0.009718 0 35 49 GOLGA3 2802 broad.mit.edu 37 12 133384936 133384936 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:133384936G>C uc001ukz.1 - 5 1278 c.719C>G c.(718-720)TCA>TGA p.S240* GOLGA3_uc001ula.1_Nonsense_Mutation_p.S240*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.S240* NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 240 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GATTTTGCTTGATTTGGAAGT 0.532 NaN 0 0 0 0.01441 0 89 126 EFHA1 221154 broad.mit.edu 37 13 22178097 22178097 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:22178097C>G uc001uof.2 - 1 213 c.191G>C c.(190-192)AGT>ACT p.S64T NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 64 calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) GACTGTAAAACTGCCATCCCG 0.672 NaN 0 0 0 0.00632 0 18 98 MIPEP 4285 broad.mit.edu 37 13 24449002 24449002 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:24449002G>A uc001uox.3 - 5 686 c.586C>T c.(586-588)CAT>TAT p.H196Y NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 196 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) TTGTCTAGATGGATTCCACTA 0.323 NaN 0 0 0 0.010818 0 27 109 POLR1D 51082 broad.mit.edu 37 13 28197305 28197305 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:28197305G>A uc010tdm.1 + 3 1350 c.320G>A c.(319-321)TGC>TAC p.C107Y LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.C107Y|POLR1D_uc001urp.2_Intron NM_015972 NP_057056 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 1 107 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) ATGAATGTCTGCCAACATGTG 0.423 NaN 0 0 0 0.011902 0 37 95 KL 9365 broad.mit.edu 37 13 33638310 33638310 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:33638310G>A uc001uus.2 + 5 3034 c.3026G>A c.(3025-3027)AGA>AAA p.R1009K NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 1009 Cytoplasmic (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AAAGGCAGAAGAAGTTACAAA 0.323 NaN 0 0 0 0.010729 0 10 25 RFXAP 5994 broad.mit.edu 37 13 37394043 37394043 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:37394043G>A uc001uvu.1 + 1 705 c.549G>A c.(547-549)CTG>CTA p.L183L NM_000538 NP_000529 O00287 RFXAP_HUMAN regulatory factor X-associated protein 183 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) ACCAGGCCCTGAACTGCGGTG 0.557 NaN 0 0 0 0.012319 0 18 18 NHLRC3 387921 broad.mit.edu 37 13 39621833 39621833 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:39621833T>C uc001uxc.2 + 7 1136 c.814T>C c.(814-816)TTG>CTG p.L272L NHLRC3_uc001uxd.2_Silent_p.L205L|NHLRC3_uc001uxe.2_Silent_p.L75L NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 272 extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TGGGAAGTACTTGATTGTGGC 0.423 NaN 0 0 0 0.004656 0 23 16 AKAP11 11215 broad.mit.edu 37 13 42876628 42876628 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:42876628C>T uc001uys.1 + 8 3921 c.3746C>T c.(3745-3747)TCA>TTA p.S1249L NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1249 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTAAACCCCTCAGACGAAAAT 0.363 NaN 0 0 0 0.013726 0 28 32 AKAP11 11215 broad.mit.edu 37 13 42877371 42877371 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:42877371G>A uc001uys.1 + 8 4664 c.4489G>A c.(4489-4491)GAA>AAA p.E1497K NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1497 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGGATATGAAGAAGATAATGA 0.398 NaN 0 0 0 0.01441 0 42 40 PCDH8 5100 broad.mit.edu 37 13 53418738 53418738 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:53418738C>A uc001vhi.2 - 3 3373 c.3170G>T c.(3169-3171)GGC>GTC p.G1057V PCDH8_uc001vhj.2_Missense_Mutation_p.G960V NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 1057 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGGTACCTGCCAGGAGGGGA 0.547 NaN 1 0 3.09479e-21 0.006999 3.32818e-21 38 39 MYCBP2 23077 broad.mit.edu 37 13 77743847 77743847 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:77743847C>T uc001vkf.2 - 40 5774 c.5683G>A c.(5683-5685)GAT>AAT p.D1895N MYCBP2_uc010aev.2_Missense_Mutation_p.D1299N NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1895 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) GGAATGTCATCAGCTAAAAAA 0.398 NaN 0 0 0 0.007413 0 20 34 RBM26 64062 broad.mit.edu 37 13 79943007 79943007 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:79943007C>G uc001vkz.2 - 6 767 c.753G>C c.(751-753)TTG>TTC p.L251F RBM26_uc001vky.2_Missense_Mutation_p.L251F|RBM26_uc001vla.2_Missense_Mutation_p.L251F|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 251 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TAGTGCTGCTCAAAGTAGGTA 0.398 NaN 0 0 0 0.009096 0 3 131 NALCN 259232 broad.mit.edu 37 13 102029158 102029158 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:102029158C>T uc001vox.1 - 6 726 c.537G>A c.(535-537)TGG>TGA p.W179* NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Nonsense_Mutation_p.W179*|NALCN_uc001vpa.2_Nonsense_Mutation_p.W179* NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 179 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGAAACACTCCATATTTGTT 0.308 NaN 0 0 0 0.014323 0 19 105 TPP2 7174 broad.mit.edu 37 13 103279421 103279421 + Silent SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:103279421C>A uc001vpi.3 + 7 947 c.844C>A c.(844-846)CGG>AGG p.R282R NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 282 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAACCTGAACGGAATGGGGT 0.463 NaN 1 0 5.8336e-16 0.003271 6.21728e-16 31 92 ATP11A 23250 broad.mit.edu 37 13 113532536 113532536 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:113532536G>C uc001vsi.3 + 29 3421 c.3333G>C c.(3331-3333)AAG>AAC p.K1111N ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1111 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CTAAGACTAAGAGCCAGTGCC 0.527 NaN 0 0 0 0.012213 0 30 66 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 0.004672 0 3 19 RPGRIP1 57096 broad.mit.edu 37 14 21792872 21792872 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:21792872C>G uc001wag.2 + 14 1858 c.1858C>G c.(1858-1860)CTG>GTG p.L620V RPGRIP1_uc001wah.2_Missense_Mutation_p.L262V|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.L85V|RPGRIP1_uc001wak.2_Missense_Mutation_p.L95V|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Silent_p.L28L|RPGRIP1_uc001wam.2_5'UTR NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 620 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GGATATTTCTCTGCTGCATCA 0.493 NaN 0 0 0 0.012319 0 17 85 JUB 84962 broad.mit.edu 37 14 23444283 23444283 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:23444283G>T uc001whz.2 - 5 1646 c.1270C>A c.(1270-1272)CCA>ACA p.P424T JUB_uc001why.2_Missense_Mutation_p.P7T NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 424 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) AAACAGCCTGGATGATAGGAC 0.517 NaN 1 0 1.06801e-11 0.009535 1.1248e-11 29 103 CEBPE 1053 broad.mit.edu 37 14 23588121 23588121 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:23588121C>T uc001wiv.1 - 1 354 c.180G>A c.(178-180)GTG>GTA p.V60V NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GCGCTGGCTTCACGGCAAAGA 0.632 NaN 0 0 0 0.004289 0 33 62 CTSG 1511 broad.mit.edu 37 14 25044606 25044606 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:25044606C>G uc001wpq.2 - 2 105 c.68G>C c.(67-69)GGA>GCA p.G23A NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 23 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) CTCCCGGCCTCCGATGATCTC 0.567 NaN 0 0 0 0.01441 0 108 128 AP4S1 11154 broad.mit.edu 37 14 31535513 31535513 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:31535513G>A uc001wqy.3 + 2 493 c.111G>A c.(109-111)AAG>AAA p.K37K AP4S1_uc001wqw.3_Silent_p.K37K|AP4S1_uc001wqx.3_Silent_p.K37K|AP4S1_uc010amh.2_Silent_p.K37K|AP4S1_uc001wqz.3_RNA NM_001128126 NP_001121598 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 37 coated pit|Golgi apparatus protein transporter activity 0 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) AAGTCATAAAGAGCTGTCTCT 0.393 NaN 0 0 0 0.00278 0 20 72 PPP2R3C 55012 broad.mit.edu 37 14 35557192 35557192 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:35557192G>A uc001wss.2 - 12 1492 c.1138C>T c.(1138-1140)CAT>TAT p.H380Y PPP2R3C_uc001wst.2_Missense_Mutation_p.H264Y|PPP2R3C_uc010tpr.1_Missense_Mutation_p.H264Y|PPP2R3C_uc001wsu.2_RNA NM_017917 NP_060387 Q969Q6 P2R3C_HUMAN serine/threonine-protein phosphatase 2A 380 centrosome|nucleus calcium ion binding ovary(1) 1 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TCTTGTCCATGGATTTTCATT 0.308 NaN 0 0 0 0.004007 0 13 24 GMFB 2764 broad.mit.edu 37 14 54948149 54948149 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:54948149C>T uc010tqz.1 - 4 277 c.178G>A c.(178-180)GAA>AAA p.E60K GMFB_uc001xaw.1_RNA NM_004124 NP_004115 P60983 GMFB_HUMAN glia maturation factor, beta 60 ADF-H. nervous system development|protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity 0 TCAGGTAGTTCATCTTTAAGT 0.378 NaN 0 0 0 0.004482 0 6 42 KIAA0831 22863 broad.mit.edu 37 14 55852662 55852662 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:55852662C>A uc001xbx.1 - 5 598 c.562G>T c.(562-564)GAG>TAG p.E188* FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.E75* NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 188 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 GCCAGACGCTCATAATGACTT 0.423 NaN 1 0 0.000442599 0.006214 0.000450819 7 39 AKAP5 9495 broad.mit.edu 37 14 64936344 64936344 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:64936344T>G uc001xhd.3 + 2 1610 c.1232T>G c.(1231-1233)CTG>CGG p.L411R ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 411 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) ATAGAACAGCTGGTTAATGAA 0.348 NaN 0 0 0 0.014323 0 19 84 ARG2 384 broad.mit.edu 37 14 68086727 68086727 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:68086727C>T uc001xjs.2 + 1 149 c.33C>T c.(31-33)CTC>CTT p.L11L NM_001172 NP_001163 P78540 ARGI2_HUMAN arginase 2 precursor 11 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding 0 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) CGCGTCTCCTCCAGACGCGAG 0.617 NaN 0 0 0 0.004672 0 3 17 PNMA1 9240 broad.mit.edu 37 14 74179620 74179620 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:74179620C>T uc001xor.1 - 1 1509 c.723G>A c.(721-723)GAG>GAA p.E241E NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 241 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) ccctagagctctcaacgctcc 0 NaN 0 0 0 0.004878 0 33 99 ZC3H14 79882 broad.mit.edu 37 14 89044479 89044479 + Missense_Mutation SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:89044479A>T uc001xww.2 + 9 1499 c.1274A>T c.(1273-1275)AAT>ATT p.N425I ZC3H14_uc010twd.1_Missense_Mutation_p.N425I|ZC3H14_uc010twe.1_Missense_Mutation_p.N425I|ZC3H14_uc001xwx.2_Missense_Mutation_p.N425I|ZC3H14_uc010twf.1_Missense_Mutation_p.N270I|ZC3H14_uc001xwy.2_Missense_Mutation_p.N391I|ZC3H14_uc010twg.1_Missense_Mutation_p.N270I|ZC3H14_uc001xxa.2_5'UTR NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 425 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 GTAGAAAAAAATCAAGGTAAT 0.343 NaN 0 0 0 0.010729 0 9 44 SLC24A4 123041 broad.mit.edu 37 14 92922835 92922835 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:92922835C>A uc001yak.2 + 12 1111 c.1087C>A c.(1087-1089)CCT>ACT p.P363T SLC24A4_uc001yai.2_Missense_Mutation_p.P316T|SLC24A4_uc010twm.1_Missense_Mutation_p.P361T|SLC24A4_uc001yaj.2_Missense_Mutation_p.P344T|SLC24A4_uc010auj.2_Missense_Mutation_p.P252T|SLC24A4_uc010twn.1_Missense_Mutation_p.P136T|SLC24A4_uc001yan.2_Missense_Mutation_p.P74T NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 380 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CGGGAATGTTCCTGTGGAAAA 0.597 NaN OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 6.33695e-27 0.007835 6.86663e-27 38 51 HSP90AA1 3320 broad.mit.edu 37 14 102551654 102551654 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:102551654C>G uc001yku.3 - 4 834 c.644G>C c.(643-645)GGA>GCA p.G215A HSP90AA1_uc001ykv.3_Missense_Mutation_p.G337A|HSP90AA1_uc001ykw.1_Missense_Mutation_p.G36A|HSP90AA1_uc001ykx.1_Missense_Mutation_p.G204A NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 215 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) AATGGGATATCCAATAAACTG 0.378 NaN 0 0 0 0.009096 0 4 32 OCA2 4948 broad.mit.edu 37 15 28326981 28326981 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:28326981C>T uc001zbh.3 - 2 150 c.40G>A c.(40-42)GCG>ACG p.A14T OCA2_uc010ayv.2_Missense_Mutation_p.A14T NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 14 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACCGCCGGCGCGCCGGGGTAC 0.657 NaN Oculocutaneous_Albinism 0 0 0 0.00245 0 12 30 RYR3 6263 broad.mit.edu 37 15 33916209 33916209 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:33916209C>T uc001zhi.2 + 20 2629 c.2559C>T c.(2557-2559)CCC>CCT p.P853P RYR3_uc010bar.2_Silent_p.P853P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 853 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCCATGCCCCGTAGACACCA 0.438 NaN 0 0 0 0.01441 0 76 129 BUB1B 701 broad.mit.edu 37 15 40512774 40512774 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40512774T>C uc001zkx.3 + 23 3179 c.2967T>C c.(2965-2967)GAT>GAC p.D989D PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 989 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GGCTAAAAGATGGTGAATTGT 0.358 NaN Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 0 0 0 0.004007 0 16 58 PLCB2 5330 broad.mit.edu 37 15 40594208 40594208 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40594208G>A uc001zld.2 - 7 833 c.532C>T c.(532-534)CGC>TGC p.R178C PLCB2_uc010bbo.2_Missense_Mutation_p.R178C|PLCB2_uc010ucm.1_Missense_Mutation_p.R178C|PLCB2_uc001zle.3_Missense_Mutation_p.R178C NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 178 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) ACCCGCTTGCGGTCAGCAGGA 0.582 NaN 0 0 0 0.004672 0 3 61 C15orf52 388115 broad.mit.edu 37 15 40627522 40627522 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:40627522C>T uc001zlh.3 - 11 1458 c.1442G>A c.(1441-1443)GGA>GAA p.G481E C15orf52_uc010ucn.1_Missense_Mutation_p.G271E NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 481 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GAGCCCTGCTCCTCTCTGTGG 0.657 NaN 0 0 0 0.003954 0 23 108 EHD4 30844 broad.mit.edu 37 15 42202032 42202032 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:42202032C>T uc001zot.2 - 5 1017 c.954G>A c.(952-954)AAG>AAA p.K318K NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 318 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GCATCTCCTTCTTCAGGTAGC 0.438 NaN 0 0 0 0.010504 0 17 54 LRRC57 255252 broad.mit.edu 37 15 42840409 42840409 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:42840409G>A uc001zqd.1 - 2 486 c.118C>T c.(118-120)CTC>TTC p.L40F HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.L40F NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 40 LRR 1. 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) ATGGTCCTGAGATTGCTCGTC 0.552 NaN 0 0 0 0.007835 0 34 137 MAP1A 4130 broad.mit.edu 37 15 43816763 43816763 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:43816763G>T uc001zrt.2 + 4 3559 c.3092G>T c.(3091-3093)GGA>GTA p.G1031V NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1031 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACTCCTGGGGAGACACTAAG 0.562 NaN 1 0 4.67007e-22 0.00874 5.03745e-22 41 50 COPS2 9318 broad.mit.edu 37 15 49431772 49431772 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:49431772C>G uc001zxf.2 - 4 404 c.325G>C c.(325-327)GAA>CAA p.E109Q COPS2_uc001zxh.2_Missense_Mutation_p.E109Q|COPS2_uc010ufa.1_Missense_Mutation_p.E45Q NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 109 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) ATGGATTTTTCAGAATAATTT 0.313 NaN 0 0 0 0.003271 0 31 34 DMXL2 23312 broad.mit.edu 37 15 51791720 51791720 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:51791720C>T uc002abf.2 - 18 3926 c.3701G>A c.(3700-3702)AGA>AAA p.R1234K DMXL2_uc010ufy.1_Missense_Mutation_p.R1234K|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1234 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GTCTATAGATCTAAGAAGAAC 0.428 NaN 0 0 0 0.012213 0 30 53 WDR72 256764 broad.mit.edu 37 15 54003547 54003547 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:54003547A>G uc002acj.2 - 8 885 c.843T>C c.(841-843)TAT>TAC p.Y281Y WDR72_uc010bfi.1_Silent_p.Y281Y NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 281 lung(1)|skin(1) 2 all cancers(107;0.0511) TCAGCAGCTGATAGATGTAAC 0.448 NaN 0 0 0 0.004289 0 34 58 PIGB 9488 broad.mit.edu 37 15 55611498 55611498 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:55611498C>T uc002act.2 + 1 366 c.50C>T c.(49-51)GCC>GTC p.A17V uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 17 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) GGCGGAGATGCCAGCCTCACT 0.592 NaN 0 0 0 0.004672 0 3 20 LIPC 3990 broad.mit.edu 37 15 58855765 58855765 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:58855765G>C uc010bga.1 + 10 1839 c.1231G>C c.(1231-1233)GGC>CGC p.G411R LIPC_uc010bfz.1_Missense_Mutation_p.G411R|LIPC_uc002afa.1_Missense_Mutation_p.G411R|LIPC_uc010bgb.1_Missense_Mutation_p.G309R|LIPC_uc010ugy.1_Missense_Mutation_p.G350R NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 411 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TGTGGATATCGGCGAGCTGAT 0.468 NaN 0 0 0 0.004289 0 31 139 HERC1 8925 broad.mit.edu 37 15 63908715 63908715 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:63908715C>T uc002amp.2 - 75 14003 c.13855G>A c.(13855-13857)GAG>AAG p.E4619K NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4619 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCCACCTCCTCCAGGTCCTCT 0.542 NaN 0 0 0 0.00278 0 25 51 HERC1 8925 broad.mit.edu 37 15 63948074 63948074 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:63948074G>A uc002amp.2 - 50 10099 c.9951C>T c.(9949-9951)CTC>CTT p.L3317L NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3317 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CAATTCCTCGGAGAAAGCTGG 0.443 NaN 0 0 0 0.00245 0 11 8 HERC1 8925 broad.mit.edu 37 15 64010869 64010869 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64010869T>C uc002amp.2 - 21 4030 c.3882A>G c.(3880-3882)TCA>TCG p.S1294S HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1294 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GGTACACTTCTGATAAGTGTT 0.358 NaN 0 0 0 0.004672 0 3 8 HERC1 8925 broad.mit.edu 37 15 64067652 64067652 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64067652G>C uc002amp.2 - 2 319 c.171C>G c.(169-171)CTC>CTG p.L57L HERC1_uc010uil.1_Silent_p.L57L|HERC1_uc010bgt.1_Silent_p.L57L|HERC1_uc002amq.1_Silent_p.L57L NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 57 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GTGGTCCTTTGAGGCATAAAA 0.443 NaN 0 0 0 0.012319 0 17 41 PPIB 5479 broad.mit.edu 37 15 64455081 64455081 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:64455081C>T uc002and.2 - 1 274 c.105G>A c.(103-105)GAG>GAA p.E35E PPIB_uc010bgx.1_Silent_p.E27E NM_000942 NP_000933 P23284 PPIB_HUMAN peptidylprolyl isomerase B precursor 35 protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding 0 L-Proline(DB00172) CCTTCTTCTTCTCATCGGCCG 0.667 NaN 0 0 0 0.006214 0 8 23 C15orf44 81556 broad.mit.edu 37 15 65871971 65871971 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:65871971A>C uc002apd.2 - 12 1668 c.1332T>G c.(1330-1332)GCT>GCG p.A444A C15orf44_uc010uix.1_Silent_p.A480A|C15orf44_uc010uiz.1_Silent_p.A408A|C15orf44_uc010uja.1_Silent_p.A394A|C15orf44_uc010ujb.1_Silent_p.A365A|C15orf44_uc002ape.3_Silent_p.A444A|C15orf44_uc010uiy.1_Silent_p.A365A NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 444 ovary(1) 1 CAAAGGCTAGAGCGGCCTTTC 0.507 NaN 0 0 0 0.00499 0 15 53 GLCE 26035 broad.mit.edu 37 15 69561007 69561007 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69561007G>C uc002ary.1 + 5 1506 c.1278G>C c.(1276-1278)GTG>GTC p.V426V NM_015554 NP_056369 O94923 GLCE_HUMAN D-glucuronyl C5-epimerase 426 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity ovary(2) 2 CAATTATGGTGACCCGTAAGT 0.488 NaN 0 0 0 0.012213 0 29 48 GLCE 26035 broad.mit.edu 37 15 69561321 69561321 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69561321G>A uc002ary.1 + 5 1820 c.1592G>A c.(1591-1593)GGA>GAA p.G531E NM_015554 NP_056369 O94923 GLCE_HUMAN D-glucuronyl C5-epimerase 531 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity ovary(2) 2 GAAAAACTCGGAAAAGAAGCA 0.428 NaN 0 0 0 0.00333 0 19 44 KIF23 9493 broad.mit.edu 37 15 69737226 69737226 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:69737226C>T uc002asb.2 + 19 2594 c.2477C>T c.(2476-2478)TCT>TTT p.S826F KIF23_uc002asc.2_Missense_Mutation_p.S722F|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.S539F NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 826 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 AAGCCCGCCTCTAACATGCAA 0.478 NaN 0 0 0 0.01441 0 56 78 ARID3B 10620 broad.mit.edu 37 15 74836792 74836792 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:74836792G>C uc002aye.2 + 2 716 c.515G>C c.(514-516)GGA>GCA p.G172A ARID3B_uc002ayc.2_Missense_Mutation_p.G172A|ARID3B_uc002ayd.2_Missense_Mutation_p.G172A NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 TCCACAGCAGGACAGCCGAAC 0.512 NaN 0 0 0 0.008361 0 25 37 CYP1A2 1544 broad.mit.edu 37 15 75043585 75043585 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:75043585G>C uc002ayr.1 + 3 951 c.887G>C c.(886-888)AGA>ACA p.R296T NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 296 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AAGGGGCCTAGAGCCAGCGGC 0.557 NaN 0 0 0 0.009718 0 40 61 RCN2 5955 broad.mit.edu 37 15 77241555 77241555 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:77241555G>A uc002bcd.2 + 7 1167 c.946G>A c.(946-948)GAG>AAG p.E316K RCN2_uc002bce.2_Missense_Mutation_p.E388K|RCN2_uc010bks.2_Missense_Mutation_p.E269K NM_002902 NP_002893 Q14257 RCN2_HUMAN reticulocalbin 2 precursor 316 Prevents secretion from ER (Potential). endoplasmic reticulum lumen calcium ion binding 0 CTATCATGATGAGCTTTAATC 0.388 NaN 0 0 0 0.003163 0 13 65 ARNT2 9915 broad.mit.edu 37 15 80767365 80767365 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:80767365C>G uc002bfr.2 + 5 589 c.423C>G c.(421-423)CTC>CTG p.L141L ARNT2_uc002bfq.2_Silent_p.L141L|ARNT2_uc010unm.1_Silent_p.L130L|ARNT2_uc002bfs.2_Silent_p.L130L NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 141 PAS 1. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TGAAGCATCTCATCCTTGAAG 0.453 NaN 0 0 0 0.001984 0 6 382 FAM108C1 58489 broad.mit.edu 37 15 80988240 80988240 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:80988240C>T uc002bfu.2 + 1 589 c.470C>T c.(469-471)TCC>TTC p.S157F FAM108C1_uc002bft.2_Missense_Mutation_p.S150F NM_021214 NP_067037 Q6PCB6 F108C_HUMAN hypothetical protein LOC58489 157 hydrolase activity 0 GGCCTCGGCTCCCGCATCAAC 0.637 NaN 0 0 0 0.000602 0 4 16 STARD5 80765 broad.mit.edu 37 15 81605709 81605709 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:81605709T>C uc002bgm.2 - 6 614 c.530A>G c.(529-531)CAT>CGT p.H177R STARD5_uc002bgn.2_Missense_Mutation_p.H70R NM_181900 NP_871629 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer protein 5 177 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding ovary(1) 1 GAGGTCGGTATGGAAGAATGT 0.562 NaN 0 0 0 0.01441 0 58 86 ALPK3 57538 broad.mit.edu 37 15 85407673 85407673 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:85407673G>A uc002ble.2 + 12 5273 c.5106G>A c.(5104-5106)GAG>GAA p.E1702E ALPK3_uc010upc.1_Silent_p.R3R NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1702 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTATGTTTAGGATCATCCCAC 0.517 NaN 0 0 0 0.011902 0 41 66 AKAP13 11214 broad.mit.edu 37 15 86122380 86122380 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:86122380G>A uc002blv.1 + 7 1251 c.1081G>A c.(1081-1083)GAG>AAG p.E361K AKAP13_uc002blt.1_Missense_Mutation_p.E361K|AKAP13_uc002blu.1_Missense_Mutation_p.E361K NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 361 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AAGCATAGTTGAGGAGGAGAA 0.493 NaN 0 0 0 0.008291 0 11 52 MAN2A2 4122 broad.mit.edu 37 15 91450061 91450061 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:91450061G>A uc010bnz.2 + 7 1042 c.927G>A c.(925-927)ATG>ATA p.M309I MAN2A2_uc010boa.2_Missense_Mutation_p.M351I|MAN2A2_uc002bqc.2_Missense_Mutation_p.M309I|MAN2A2_uc010uql.1_Missense_Mutation_p.M13I|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 309 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TCACCAGCATGCTGATTCAGA 0.597 NaN 0 0 0 0.00333 0 24 69 SV2B 9899 broad.mit.edu 37 15 91810843 91810843 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:91810843T>C uc002bqv.2 + 7 1569 c.1178T>C c.(1177-1179)CTG>CCG p.L393P SV2B_uc002bqt.2_Missense_Mutation_p.L393P|SV2B_uc010uqv.1_Missense_Mutation_p.L242P|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 393 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ACACTGATTCTGGCCGTGGTT 0.443 NaN 0 0 0 0.001168 0 4 28 LINS1 55180 broad.mit.edu 37 15 101112154 101112154 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr15:101112154C>T uc002bwe.2 - 7 1630 c.1339G>A c.(1339-1341)GAT>AAT p.D447N LINS1_uc002bwd.2_Missense_Mutation_p.D34N|LINS1_uc002bwf.2_Missense_Mutation_p.D447N|LINS1_uc002bwg.2_Missense_Mutation_p.D447N|LINS1_uc002bwh.2_Missense_Mutation_p.D447N NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 447 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) AGCATGTCATCGTCTTGTTCT 0.448 NaN 0 0 0 0.01441 0 39 48 TELO2 9894 broad.mit.edu 37 16 1559872 1559872 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:1559872G>T uc002cly.2 + 21 2740 c.2449G>T c.(2449-2451)GCA>TCA p.A817S NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 817 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) CAGGACGCTGGCACTGAGGGC 0.642 NaN 1 0 1.08611e-07 0.010729 1.12231e-07 9 28 CREBBP 1387 broad.mit.edu 37 16 3786760 3786760 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:3786760A>G uc002cvv.2 - 27 4655 c.4451T>C c.(4450-4452)TTC>TCC p.F1484S CREBBP_uc002cvw.2_Missense_Mutation_p.F1446S NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1484 Cys/His-rich.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGGCAATGGAAGATGTAATC 0.507 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.01441 0 58 60 NOD2 64127 broad.mit.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C T rs144368009 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:50733855C>T uc002egm.1 + 2 635 c.530C>T c.(529-531)CCG>CTG p.P177L NOD2_uc010cbj.1_Missense_Mutation_p.P150L|NOD2_uc010cbk.1_Missense_Mutation_p.P150L|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 177 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) ATCTTCACACCGTCCCAGAGG 0.542 NaN 0 0 0 0.009096 0 4 71 KATNB1 10300 broad.mit.edu 37 16 57787344 57787344 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:57787344G>A uc002eml.1 + 12 1464 c.1090G>A c.(1090-1092)GAG>AAG p.E364K NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 364 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CCCCAGCAGCGAGGATGACCG 0.662 NaN 0 0 0 0.013537 0 10 77 PLEKHG4 25894 broad.mit.edu 37 16 67314065 67314065 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:67314065C>T uc002eso.3 + 1 2653 c.118C>T c.(118-120)CAG>TAG p.Q40* PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002esr.1_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.Q40* NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 40 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ACCTGCTTCCCAGATGCACGT 0.592 NaN 0 0 0 0.01441 0 55 50 THAP11 57215 broad.mit.edu 37 16 67877394 67877394 + Nonsense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:67877394G>T uc002euo.2 + 1 1182 c.937G>T c.(937-939)GGA>TGA p.G313* CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CAAGAAGCACGGAATGTGAAC 0.612 NaN 1 0 6.53348e-20 0.003755 7.01562e-20 31 39 CIRH1A 84916 broad.mit.edu 37 16 69202805 69202805 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:69202805C>T uc002ews.3 + 17 2122 c.2026C>T c.(2026-2028)CCA>TCA p.P676S CIRH1A_uc002ewt.3_Missense_Mutation_p.P593S|CIRH1A_uc010cfi.2_Missense_Mutation_p.P478S NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 676 nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) TGCTCAGCTCCCACCACCCAT 0.443 NaN 0 0 0 0.000602 0 4 141 SNTB2 6645 broad.mit.edu 37 16 69279609 69279609 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:69279609G>A uc002ewu.2 + 2 705 c.685G>A c.(685-687)GAG>AAG p.E229K NM_006750 NP_006741 Q13425 SNTB2_HUMAN basic beta 2 syntrophin 229 PH 1. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) TAGTGGCAGTGAGGACTCTGG 0.493 NaN 0 0 0 0.01441 0 189 214 COG4 25839 broad.mit.edu 37 16 70531255 70531255 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:70531255C>T uc002ezc.2 - 11 1361 c.1350G>A c.(1348-1350)CTG>CTA p.L450L COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L450L|COG4_uc002eze.2_Silent_p.L144L NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 446 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TGCTGGATGTCAGCTGGCCCT 0.512 NaN 0 0 0 0.01441 0 91 114 SF3B3 23450 broad.mit.edu 37 16 70602260 70602260 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:70602260C>A uc002ezf.2 + 22 3238 c.3027C>A c.(3025-3027)TTC>TTA p.F1009L NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 1009 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) AAGAAAGTTTCATCTGGGTTC 0.433 NaN 1 0 1.96642e-18 0.006999 2.10519e-18 40 51 RFWD3 55159 broad.mit.edu 37 16 74678291 74678291 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:74678291A>C uc002fda.2 - 6 1146 c.1048T>G c.(1048-1050)TTG>GTG p.L350V RFWD3_uc010cgq.2_Missense_Mutation_p.L350V NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 350 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 CTAGTGTCCAAAGCTCTCAGG 0.453 NaN 0 0 0 0.01441 0 36 227 CNTNAP4 85445 broad.mit.edu 37 16 76592577 76592577 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:76592577C>T uc002feu.1 + 26 4309 c.3924C>T c.(3922-3924)TTC>TTT p.F1308F CNTNAP4_uc002fev.1_Silent_p.F1172F|CNTNAP4_uc010chb.1_Silent_p.F1235F|CNTNAP4_uc002fex.1_Silent_p.F1311F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1308 Cytoplasmic (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AGTACTTCTTCTGATTGGCAG 0.363 NaN 0 0 0 0.004482 0 9 13 SLC38A8 146167 broad.mit.edu 37 16 84075602 84075602 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:84075602C>T uc002fhg.1 - 1 161 c.161G>A c.(160-162)GGA>GAA p.G54E NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 54 amino acid transport|sodium ion transport integral to membrane 0 AGGGACCACTCCGCCCGCTTT 0.637 NaN 0 0 0 0.00333 0 18 174 LRRC50 123872 broad.mit.edu 37 16 84211366 84211366 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:84211366G>C uc002fhl.3 + 12 2278 c.2097G>C c.(2095-2097)GAG>GAC p.E699D LRRC50_uc010vnw.1_Missense_Mutation_p.E463D NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 699 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CACCCCCAGAGACGTGTGTCG 0.592 NaN Kartagener_syndrome 0 0 0 0.01441 0 57 257 RNMTL1 55178 broad.mit.edu 37 17 691281 691281 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:691281G>C uc002frw.2 + 3 742 c.636G>C c.(634-636)TTG>TTC p.L212F NM_018146 NP_060616 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 212 RNA processing protein binding|RNA binding|RNA methyltransferase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) CTTTATTATTGATTTGTGACA 0.463 NaN 0 0 0 0.01441 0 62 140 SLC25A11 8402 broad.mit.edu 37 17 4841188 4841188 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:4841188C>T uc002fzo.1 - 8 906 c.793G>A c.(793-795)GTG>ATG p.V265M SLC25A11_uc002fzp.1_Missense_Mutation_p.V261M|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 265 Solcar 3. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 TTGAACAGCACGTCCTAGACA 0.627 NaN 0 0 0 0.010818 0 28 69 DHX33 56919 broad.mit.edu 37 17 5352201 5352201 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:5352201C>A uc002gca.2 - 11 1745 c.1743G>T c.(1741-1743)GAG>GAT p.E581D DHX33_uc002gbz.2_Missense_Mutation_p.E352D|DHX33_uc002gcb.2_Missense_Mutation_p.E408D|DHX33_uc010clf.2_Missense_Mutation_p.E357D NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 581 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 TGACAAAATTCTCTTTGCACC 0.368 NaN 1 0 8.28177e-16 0.007413 8.81329e-16 15 28 XAF1 54739 broad.mit.edu 37 17 6659401 6659401 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:6659401G>A uc002gdn.2 + 1 246 c.4G>A c.(4-6)GAA>AAA p.E2K XAF1_uc010clr.1_Missense_Mutation_p.E2K|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Missense_Mutation_p.E2K|XAF1_uc002gdp.2_5'UTR|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_5'UTR NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 2 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 GCAGAACATGGAAGGAGACTT 0.537 NaN 0 0 0 0.01441 0 86 43 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:7577108C>A uc002gim.2 - 8 1024 c.830G>T c.(829-831)TGT>TTT p.C277F TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 277 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(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) TCTCCCAGGACAGGCACAAAC 0.547 111 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) 1 0 4.96729e-08 0.008871 5.14779e-08 21 23 ALOXE3 59344 broad.mit.edu 37 17 8018935 8018935 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:8018935C>G uc010cnr.2 - 4 794 c.424G>C c.(424-426)GAA>CAA p.E142Q ALOXE3_uc002gka.2_Missense_Mutation_p.E298Q|ALOXE3_uc010vuo.1_Missense_Mutation_p.E274Q|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 142 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 CGGTAGCATTCTTGTCGGGCC 0.478 NaN 0 0 0 0.004878 0 31 58 STX8 9482 broad.mit.edu 37 17 9153949 9153949 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:9153949C>T uc002glx.2 - 8 807 c.657G>A c.(655-657)GTG>GTA p.V219V NM_004853 NP_004844 Q9UNK0 STX8_HUMAN syntaxin 8 219 Helical; Anchor for type IV membrane protein; (Potential). transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1) 1 GCAGTAAAATCACCATGATCA 0.463 NaN 0 0 0 0.006214 0 7 14 ELAC2 60528 broad.mit.edu 37 17 12897026 12897026 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:12897026C>T uc002gnz.3 - 23 2326 c.2231G>A c.(2230-2232)GGA>GAA p.G744E ELAC2_uc002gnu.3_Missense_Mutation_p.G141E|ELAC2_uc002gnv.3_Missense_Mutation_p.G372E|ELAC2_uc002gnw.3_Missense_Mutation_p.G400E|ELAC2_uc002gnx.3_Missense_Mutation_p.G504E|ELAC2_uc010vvo.1_Missense_Mutation_p.G542E|ELAC2_uc010vvp.1_Missense_Mutation_p.G725E|ELAC2_uc010vvq.1_Missense_Mutation_p.G743E|ELAC2_uc010vvr.1_Missense_Mutation_p.G704E NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 744 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 AAAGGCAACTCCCACTTTCTC 0.577 NaN Hereditary_Prostate_Cancer 0 0 0 0.00499 0 15 113 TRIM16 10626 broad.mit.edu 37 17 15532492 15532492 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:15532492C>T uc002gox.2 - 9 1689 c.1132G>A c.(1132-1134)GAC>AAC p.D378N TRIM16_uc002gor.1_Missense_Mutation_p.D378N|TRIM16_uc002gow.2_Missense_Mutation_p.D162N|TRIM16_uc002goy.2_Missense_Mutation_p.D248N NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 378 B30.2/SPRY. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) GTGTCCGGGTCAAACGTGATG 0.567 NaN 0 0 0 0.01441 0 43 75 NCOR1 9611 broad.mit.edu 37 17 15942889 15942889 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:15942889G>A uc002gpo.2 - 44 7053 c.6813C>T c.(6811-6813)CTC>CTT p.L2271L NCOR1_uc002gpn.2_Silent_p.L2168L|NCOR1_uc002gpl.2_Silent_p.L286L|NCOR1_uc002gpm.2_Silent_p.L791L|NCOR1_uc010vwb.1_Silent_p.L855L|NCOR1_uc010coy.2_Silent_p.L1179L NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2271 Interaction with C1D (By similarity).|ID2 (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGCTTCCCATGAGAGCCTTCC 0.473 NaN 0 0 0 0.013537 0 11 31 RAI1 10743 broad.mit.edu 37 17 17696270 17696270 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:17696270C>G uc002grm.2 + 3 477 c.8C>G c.(7-9)TCT>TGT p.S3C RAI1_uc002grn.1_Missense_Mutation_p.S3C NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 3 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GTCATGCAGTCTTTTCGAGAA 0.378 NaN 0 0 0 0.012319 0 21 33 SMCR7 125170 broad.mit.edu 37 17 18167285 18167285 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:18167285C>T uc002gst.2 + 4 783 c.572C>T c.(571-573)GCG>GTG p.A191V SMCR7_uc002gsu.2_Silent_p.C166C|SMCR7_uc010vxq.1_Missense_Mutation_p.A202V NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 191 integral to membrane protein binding 0 all_neural(463;0.228) GCGGGGGCTGCGGACCATGTG 0.701 NaN 0 0 0 0.006214 0 8 17 ZNF286B 729288 broad.mit.edu 37 17 18565289 18565289 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:18565289G>A uc010vyd.1 - 5 1781 c.1530C>T c.(1528-1530)CTC>CTT p.L510L NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN zinc finger protein 286B 510 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GATGTCTGATGAGAGATGAAC 0.358 NaN 0 0 0 0.00333 0 16 46 ALDH3A1 218 broad.mit.edu 37 17 19648427 19648427 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:19648427C>T uc010cqu.2 - 1 346 c.16G>A c.(16-18)GAG>AAG p.E6K ALDH3A1_uc010vzd.1_Missense_Mutation_p.E6K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E6K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E6K|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 6 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TTCACGGCCTCGCTGATCTTG 0.682 NaN 0 0 0 0.00278 0 18 38 AKAP10 11216 broad.mit.edu 37 17 19861683 19861683 + Missense_Mutation SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:19861683A>T uc002gwo.2 - 4 658 c.521T>A c.(520-522)CTA>CAA p.L174Q AKAP10_uc002gwp.1_Missense_Mutation_p.L174Q|AKAP10_uc010cqw.1_Missense_Mutation_p.L174Q|AKAP10_uc010vze.1_Missense_Mutation_p.L95Q NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 174 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CACTGTGTTTAGACTGTGTGC 0.413 NaN 0 0 0 0.003954 0 26 57 MAP2K3 5606 broad.mit.edu 37 17 21205466 21205466 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:21205466G>T uc002gys.2 + 6 676 c.411G>T c.(409-411)TGG>TGT p.W137C MAP2K3_uc002gyt.2_Missense_Mutation_p.W108C|MAP2K3_uc002gyu.2_Missense_Mutation_p.W108C NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 137 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAGACGTGTGGATCTGCATGG 0.507 NaN 1 0 1.96292e-10 0.010504 2.05215e-10 15 77 FOXN1 8456 broad.mit.edu 37 17 26862193 26862193 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:26862193C>T uc010crm.2 + 8 1802 c.1604C>T c.(1603-1605)TCA>TTA p.S535L FOXN1_uc002hbj.2_Missense_Mutation_p.S535L NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 535 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) ATCAATCCCTCACTCACTGAC 0.597 NaN 0 0 0 0.008871 0 16 37 SUPT6H 6830 broad.mit.edu 37 17 27010765 27010765 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27010765C>T uc002hby.2 + 17 2250 c.2160C>T c.(2158-2160)TTC>TTT p.F720F SUPT6H_uc010crt.2_Silent_p.F720F NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 720 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TACAGCAGTTCCTCTATGTGC 0.473 NaN 0 0 0 0.007413 0 19 38 TLCD1 116238 broad.mit.edu 37 17 27051729 27051729 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27051729G>C uc002hco.2 - 4 658 c.543C>G c.(541-543)CTC>CTG p.L181L TLCD1_uc010waw.1_Silent_p.L134L NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 181 TLC.|Helical; (Potential). integral to membrane 0 Lung NSC(42;0.00431) CCAGGCGGAAGAGAAAGTACA 0.512 NaN 0 0 0 0.003954 0 23 94 TAOK1 57551 broad.mit.edu 37 17 27809286 27809286 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:27809286G>A uc002hdz.1 + 8 829 c.635G>A c.(634-636)GGA>GAA p.G212E TAOK1_uc010wbe.1_Missense_Mutation_p.G212E|TAOK1_uc010wbf.1_Missense_Mutation_p.G212E|TAOK1_uc002heb.1_Missense_Mutation_p.G38E NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 212 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) TGGTCTCTTGGAATAACATGT 0.313 NaN 0 0 0 0.00874 0 36 70 CPD 1362 broad.mit.edu 37 17 28750013 28750013 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:28750013A>G uc002hfb.1 + 5 1644 c.1629A>G c.(1627-1629)ATA>ATG p.I543M CPD_uc010wbo.1_Missense_Mutation_p.I296M|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 543 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 TGATGGAGATATCTGATAATC 0.383 NaN 0 0 0 0.003163 0 15 42 CCT6B 10693 broad.mit.edu 37 17 33259398 33259398 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:33259398G>C uc002hig.2 - 11 1429 c.1335C>G c.(1333-1335)CTC>CTG p.L445L CCT6B_uc010ctg.2_Silent_p.L408L|CCT6B_uc010wcc.1_Silent_p.L400L NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 445 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) TGGGAATAATGAGTAAGGCAT 0.383 NaN 0 0 0 0.014323 0 20 82 UNC45B 146862 broad.mit.edu 37 17 33482390 33482390 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:33482390C>T uc002hja.2 + 7 812 c.715C>T c.(715-717)CTG>TTG p.L239L UNC45B_uc002hjb.2_Silent_p.L239L|UNC45B_uc002hjc.2_Silent_p.L239L|UNC45B_uc010cto.2_Silent_p.L239L NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 239 ARM 2. cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GGAGATGTCTCTGGCTGTCTG 0.557 NaN 0 0 0 0.00623 0 40 72 CDC6 990 broad.mit.edu 37 17 38445697 38445697 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:38445697C>T uc002huj.1 + 2 235 c.25C>T c.(25-27)CAG>TAG p.Q9* NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 9 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 ATCCCAGGCACAGGCTACAAT 0.408 NaN 0 0 0 0.003271 0 29 46 KRT25 147183 broad.mit.edu 37 17 38910244 38910244 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:38910244G>A uc002hve.2 - 3 598 c.537C>T c.(535-537)CAC>CAT p.H179H NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 179 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) CTACACTCTGGTGAAGAGCCA 0.408 NaN 0 0 0 0.004007 0 13 71 PTRF 284119 broad.mit.edu 37 17 40575088 40575088 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:40575088C>G uc002hzo.2 - 1 187 c.28G>C c.(28-30)GAG>CAG p.E10Q PTRF_uc010wgi.1_Missense_Mutation_p.E10Q NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 10 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) AGCGGCCGCTCGACAATATAG 0.726 NaN 0 0 0 0.004672 0 3 8 COASY 80347 broad.mit.edu 37 17 40716813 40716813 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:40716813G>A uc002hzz.2 + 5 1291 c.1134G>A c.(1132-1134)CTG>CTA p.L378L COASY_uc010cyj.2_Silent_p.L407L|COASY_uc002iab.2_Silent_p.L83L|COASY_uc002iad.2_Silent_p.L378L|COASY_uc002iac.2_Silent_p.L378L|COASY_uc002iae.2_Silent_p.L173L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 378 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTCAGCGACTGAAGGGCCTGG 0.587 NaN 0 0 0 0.006999 0 39 73 PLCD3 113026 broad.mit.edu 37 17 43195690 43195690 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:43195690G>A uc002iib.2 - 6 1197 c.1083C>T c.(1081-1083)ATC>ATT p.I361I NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 361 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) TGGGCCCCCCGATCTGGGAGT 0.592 NaN 0 0 0 0.013726 0 28 85 HOXB1 3211 broad.mit.edu 37 17 46607930 46607930 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46607930G>C uc002ink.1 - 1 343 c.337C>G c.(337-339)CCC>GCC p.P113A NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 113 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TAGCTCGAGGGATGAAAATAG 0.642 NaN 0 0 0 0.00632 0 25 146 HOXB3 3213 broad.mit.edu 37 17 46628332 46628332 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46628332C>T uc002inn.2 - 2 1060 c.660G>A c.(658-660)GAG>GAA p.E220E HOXB3_uc010wlm.1_Silent_p.E147E|HOXB3_uc010dbf.2_Silent_p.E220E|HOXB3_uc010dbg.2_Silent_p.E220E|HOXB3_uc002ino.2_Silent_p.E220E|HOXB3_uc010wlk.1_Silent_p.E88E|HOXB3_uc010wll.1_Silent_p.E147E NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 220 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGTTGGCCATCTCTACACGGC 0.607 NaN 0 0 0 0.01441 0 53 229 HOXB9 3219 broad.mit.edu 37 17 46703546 46703547 + Missense_Mutation DNP GG GG AA TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:46703546_46703547GG>AA uc002inx.2 - 1 289_290 c.85_86CC>TT c.(85-87)CCT>TTT p.P29F NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 29 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGGCCAGAAGGAAACTTGGCT 0.604 NaN 0 0 0 0.004672 0 6 24 EPN3 55040 broad.mit.edu 37 17 48614133 48614133 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:48614133G>A uc002ira.3 + 2 651 c.216G>A c.(214-216)CGG>CGA p.R72R EPN3_uc010wms.1_Silent_p.R127R|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.R72R NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 72 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) AGAACTGGCGGCACGTGTACA 0.597 NaN 0 0 0 0.009535 0 31 131 SPAG9 9043 broad.mit.edu 37 17 49198014 49198014 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:49198014C>G uc002itc.2 - 1 213 c.4G>C c.(4-6)GAG>CAG p.E2Q SPAG9_uc002itb.2_Missense_Mutation_p.E2Q|SPAG9_uc002itd.2_Missense_Mutation_p.E2Q NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 2 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCCTCCAGCTCCATGGTGGCA 0.552 NaN 0 0 0 0.001168 0 5 8 CA10 56934 broad.mit.edu 37 17 49825019 49825019 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:49825019G>A uc002itw.3 - 4 1425 c.439C>T c.(439-441)CTC>TTC p.L147F CA10_uc002itu.3_Missense_Mutation_p.L76F|CA10_uc002itv.3_Missense_Mutation_p.L153F|CA10_uc002itx.3_Missense_Mutation_p.L147F|CA10_uc002ity.3_Missense_Mutation_p.L147F|CA10_uc002itz.2_Missense_Mutation_p.L147F NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 147 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTCCATTGAGGAGGTGCTCC 0.507 NaN 0 0 0 0.01441 0 38 183 PCTP 58488 broad.mit.edu 37 17 53844767 53844767 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:53844767C>T uc002iul.3 + 2 322 c.213C>T c.(211-213)ATC>ATT p.I71I PCTP_uc002ium.3_5'UTR|PCTP_uc010dcg.2_Silent_p.I71I|PCTP_uc010dch.2_RNA NM_021213 NP_067036 Q9UKL6 PPCT_HUMAN phosphatidylcholine transfer protein isoform 1 71 START. cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(1;0.00207) TGGCAGACATCTATATGGACT 0.323 NaN 0 0 0 0.00632 0 21 36 PTRH2 51651 broad.mit.edu 37 17 57775139 57775139 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:57775139C>T uc002ixt.2 - 2 326 c.201G>A c.(199-201)ATG>ATA p.M67I PTRH2_uc002ixs.2_RNA NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Bcl-2 inhibitor of transcription precursor 67 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCACAAGAATCATCTTGTACT 0.468 NaN 0 0 0 0.003755 0 36 93 KCNH6 81033 broad.mit.edu 37 17 61623247 61623247 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:61623247G>A uc002jay.2 + 14 3049 c.2969G>A c.(2968-2970)GGG>GAG p.G990E KCNH6_uc010wpl.1_Missense_Mutation_p.G831E|KCNH6_uc010wpm.1_Missense_Mutation_p.G954E|KCNH6_uc002jaz.1_Missense_Mutation_p.G901E NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 990 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GGATTTGCAGGGAGTTGGGGC 0.507 NaN 0 0 0 0.007413 0 17 52 DDX5 1655 broad.mit.edu 37 17 62499341 62499341 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:62499341C>T uc002jek.2 - 7 1022 c.775G>A c.(775-777)GAA>AAA p.E259K DDX5_uc010deh.2_Missense_Mutation_p.E259K|DDX5_uc002jej.2_Missense_Mutation_p.E154K|DDX5_uc010wqa.1_Missense_Mutation_p.E180K|DDX5_uc002jel.1_Missense_Mutation_p.E7K NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 259 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) ATTTGGGGTTCAAAGCCCATA 0.363 NaN T ETV4 prostate 0 0 0 0.004656 0 20 92 CCDC45 90799 broad.mit.edu 37 17 62523291 62523291 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:62523291T>C uc002jem.2 + 11 1273 c.1215T>C c.(1213-1215)ACT>ACC p.T405T CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.T241T NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 405 centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AAGAAAATACTGGAAATGAGG 0.413 NaN 0 0 0 0.001984 0 6 30 BPTF 2186 broad.mit.edu 37 17 65890162 65890162 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:65890162C>G uc002jgf.2 + 7 2485 c.2424C>G c.(2422-2424)ATC>ATG p.I808M BPTF_uc002jge.2_Missense_Mutation_p.I934M|BPTF_uc010wqm.1_Missense_Mutation_p.I871M NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 934 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAATTGGATCAAGGCAGTTC 0.393 NaN 0 0 0 0.01441 0 48 69 COG1 9382 broad.mit.edu 37 17 71192710 71192710 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:71192710T>A uc002jjg.2 + 2 416 c.380T>A c.(379-381)ATT>AAT p.I127N COG1_uc002jjh.2_Missense_Mutation_p.I127N|COG1_uc002jjf.1_Missense_Mutation_p.I127N NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 127 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) CTCTTAGAAATTCCGGAGAAG 0.557 NaN 0 0 0 0.01441 0 65 118 BTBD17 388419 broad.mit.edu 37 17 72353375 72353375 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:72353375C>T uc002jkn.2 - 3 858 c.858G>A c.(856-858)CTG>CTA p.L286L NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 286 extracellular region 0 AGGCCTGCAGCAGGAGGTCGG 0.711 NaN 0 0 0 0.001168 0 4 6 GRB2 2885 broad.mit.edu 37 17 73316530 73316530 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:73316530G>C uc002jnx.3 - 6 930 c.573C>G c.(571-573)CCC>CCG p.P191P GRB2_uc002jny.3_Silent_p.P150P NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 191 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TCCACCAGTTGGGGTCTGAGT 0.537 NaN 0 0 0 0.01441 0 56 196 ITGB4 3691 broad.mit.edu 37 17 73727372 73727372 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:73727372G>A uc002jpg.2 + 10 1325 c.1138G>A c.(1138-1140)GGC>AGC p.G380S ITGB4_uc002jph.2_Missense_Mutation_p.G380S|ITGB4_uc010dgo.2_Missense_Mutation_p.G380S|ITGB4_uc002jpi.3_Missense_Mutation_p.G380S|ITGB4_uc010dgp.1_Missense_Mutation_p.G380S|ITGB4_uc002jpj.2_Missense_Mutation_p.G380S|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 380 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCCCCCGAGGCCTTCGGAC 0.637 NaN 0 0 0 0.003163 0 15 97 SFRS2 6427 broad.mit.edu 37 17 74732409 74732409 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:74732409C>T uc002jsv.2 - 2 670 c.500G>A c.(499-501)CGA>CAA p.R167Q SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R167Q|SFRS2_uc010wtg.1_Missense_Mutation_p.R155Q|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 167 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 CTTGGACCTTCGTGCGGATCT 0.622 NaN 0 0 0 0.00333 0 20 92 DNAH17 8632 broad.mit.edu 37 17 76503684 76503684 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:76503684G>A uc010wtu.1 - 2 492 c.315C>T c.(313-315)TCC>TCT p.S105S full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human). ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTCCGCCGTGGACAGCTTCT 0.592 NaN 0 0 0 0.013537 0 10 55 CCDC40 55036 broad.mit.edu 37 17 78073333 78073333 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:78073333C>G uc010dht.2 + 20 3215 c.3188C>G c.(3187-3189)TCA>TGA p.S1063* CCDC40_uc002jxm.3_Nonsense_Mutation_p.S846*|CCDC40_uc002jxn.3_Nonsense_Mutation_p.S459*|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1063 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CAGAACCTTTCAGAGATCGTG 0.552 NaN 0 0 0 0.006999 0 34 35 P4HB 5034 broad.mit.edu 37 17 79813139 79813139 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:79813139G>A uc002kbn.1 - 4 700 c.503C>T c.(502-504)TCT>TTT p.S168F P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 168 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CTGCTTGGCAGAGTCCGACTC 0.552 NaN 0 0 0 0.004289 0 35 117 DLGAP1 9229 broad.mit.edu 37 18 3499318 3499318 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:3499318C>T uc002kmf.2 - 10 2866 c.2799G>A c.(2797-2799)CTG>CTA p.L933L DLGAP1_uc002kme.1_Silent_p.L631L|DLGAP1_uc010dkn.2_Silent_p.L641L|DLGAP1_uc010wyw.1_Silent_p.L639L|DLGAP1_uc010wyx.1_Silent_p.L655L|DLGAP1_uc010wyy.1_Silent_p.L617L NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 933 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCGAGCTCTCCAGCGAGCGCT 0.697 NaN 0 0 0 0.004672 0 3 9 EPB41L3 23136 broad.mit.edu 37 18 5438071 5438071 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:5438071G>C uc002kmt.1 - 6 654 c.568C>G c.(568-570)CCA>GCA p.P190A EPB41L3_uc010wzh.1_Missense_Mutation_p.P190A|EPB41L3_uc002kmu.1_Missense_Mutation_p.P190A|EPB41L3_uc010dkq.1_Missense_Mutation_p.P81A|EPB41L3_uc010dks.1_Missense_Mutation_p.P212A|EPB41L3_uc002kmv.1_Missense_Mutation_p.P81A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 190 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GGGTCTGGTGGATAAAATTTC 0.383 NaN 0 0 0 0.014323 0 15 49 MIB1 57534 broad.mit.edu 37 18 19321641 19321641 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:19321641G>A uc002ktq.2 + 1 97 c.97G>A c.(97-99)GAG>AAG p.E33K MIB1_uc002ktp.2_Intron NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 33 MIB/HERC2 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) GGACGGCGGCGAGGGCCATGT 0.667 NaN 0 0 0 0.003163 0 14 22 NPC1 4864 broad.mit.edu 37 18 21136222 21136222 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21136222T>C uc002kum.3 - 8 1585 c.1311A>G c.(1309-1311)ATA>ATG p.I437M NPC1_uc010xaz.1_Missense_Mutation_p.I238M|NPC1_uc010xba.1_Missense_Mutation_p.I282M NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 437 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) GCAGTATCTGTATGTCAAGCG 0.498 NaN 0 0 0 0.013114 0 35 71 LAMA3 3909 broad.mit.edu 37 18 21422437 21422437 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21422437C>A uc002kuq.2 + 28 3501 c.3415C>A c.(3415-3417)CCG>ACG p.P1139T LAMA3_uc002kur.2_Missense_Mutation_p.P1139T NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1139 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCAGCGCACCCGACGTTTCC 0.582 NaN 1 0 6.07242e-22 0.01441 6.54024e-22 56 85 LAMA3 3909 broad.mit.edu 37 18 21479343 21479343 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:21479343G>A uc002kuq.2 + 47 6014 c.5928G>A c.(5926-5928)ATG>ATA p.M1976I LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.M367I|LAMA3_uc002kut.3_Intron NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1976 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCAGCGCATGATGAGGGAAC 0.493 NaN 0 0 0 0.008871 0 16 59 DSG1 1828 broad.mit.edu 37 18 28916515 28916515 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:28916515G>A uc002kwp.2 + 9 1416 c.1204G>A c.(1204-1206)GAT>AAT p.D402N NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 402 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGGATCAAATGATAAAGTGGG 0.383 NaN 0 0 0 0.001855 0 12 43 KIAA1632 57724 broad.mit.edu 37 18 43450624 43450624 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:43450624C>T uc002lbm.2 - 36 6233 c.6133G>A c.(6133-6135)GAG>AAG p.E2045K KIAA1632_uc010xcq.1_Missense_Mutation_p.E599K|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.E920K NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2045 autophagy 0 AGAATGAACTCTGGCATTTTG 0.488 NaN 0 0 0 0.006122 0 16 39 ZNF407 55628 broad.mit.edu 37 18 72775115 72775115 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:72775115C>T uc002llw.2 + 8 5495 c.5438C>T c.(5437-5439)TCC>TTC p.S1813F NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGCATTGTTTCCAAGTCGTAC 0.557 NaN 0 0 0 0.01441 0 53 88 ZNF516 9658 broad.mit.edu 37 18 74091492 74091492 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:74091492C>G uc010dqx.1 - 3 2813 c.2578G>C c.(2578-2580)GCC>CCC p.A860P ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) ATGCTAGCGGCTTTTGTGACC 0.617 NaN 0 0 0 0.00333 0 22 140 ATP8B3 148229 broad.mit.edu 37 19 1784889 1784889 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:1784889C>T uc002ltw.2 - 28 3823 c.3589G>A c.(3589-3591)GTG>ATG p.V1197M ATP8B3_uc002ltv.2_Missense_Mutation_p.V1160M|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1197 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTATGGACACACTCAGCAGG 0.637 NaN 0 0 0 0.006214 0 6 33 THOP1 7064 broad.mit.edu 37 19 2808407 2808407 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:2808407G>C uc002lwj.2 + 9 1575 c.1420G>C c.(1420-1422)GAG>CAG p.E474Q THOP1_uc010xgz.1_Missense_Mutation_p.E353Q|THOP1_uc002lwk.2_5'Flank NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 474 By similarity. proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTACTTCCATGAGTTTGGCCA 0.512 NaN 0 0 0 0.004482 0 7 39 CELF5 60680 broad.mit.edu 37 19 3290311 3290311 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:3290311C>T uc002lxm.2 + 11 1306 c.1269C>T c.(1267-1269)TTC>TTT p.F423F CELF5_uc002lxl.1_Missense_Mutation_p.R410W|CELF5_uc010dtj.1_Missense_Mutation_p.R385W|CELF5_uc010xhg.1_Missense_Mutation_p.R296W|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 423 RRM 3. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 TCCTACCCTTCGGCAATATCA 0.577 NaN 0 0 0 0.010818 0 25 93 LONP1 9361 broad.mit.edu 37 19 5719793 5719793 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:5719793G>A uc002mcx.2 - 1 384 c.351C>T c.(349-351)ATC>ATT p.I117I TMEM146_uc010duj.1_5'Flank|TMEM146_uc002mda.2_5'Flank|LONP1_uc002mcy.2_Silent_p.I53I|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Silent_p.I117I|LONP1_uc002mcz.2_Intron NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 117 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 ACACATCGGGGATCGTCATGG 0.532 NaN 0 0 0 0.009718 0 42 77 RETN 56729 broad.mit.edu 37 19 7734744 7734744 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:7734744G>A uc002mhf.1 + 3 202 c.156G>A c.(154-156)CAG>CAA p.Q52Q RETN_uc002mhg.1_Silent_p.Q52Q|RETN_uc010dvm.1_Intron NM_020415 NP_065148 Q9HD89 RETN_HUMAN resistin 52 hormone activity ovary(1) 1 TGGAGTGCCAGAGCGTCACCT 0.612 NaN 0 0 0 0.004289 0 28 41 MAP2K7 5609 broad.mit.edu 37 19 7974989 7974989 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:7974989C>T uc002mit.2 + 3 373 c.308C>T c.(307-309)ACG>ATG p.T103M MAP2K7_uc002miv.2_Missense_Mutation_p.T103M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T103M|MAP2K7_uc010dvv.2_Translation_Start_Site NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 103 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) ATGAAGCAGACGGGCTACCTG 0.647 NaN 0 0 0 0.006214 0 7 18 QTRT1 81890 broad.mit.edu 37 19 10818004 10818004 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:10818004G>A uc002mpr.2 + 4 503 c.478G>A c.(478-480)GAC>AAC p.D160N NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 160 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCAGCTGGACGACGTGGTTAG 0.572 NaN 0 0 0 0.01441 0 39 215 DNM2 1785 broad.mit.edu 37 19 10897350 10897350 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:10897350C>T uc002mps.1 + 7 1124 c.960C>T c.(958-960)GAC>GAT p.D320D DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.D320D|DNM2_uc002mpv.1_Silent_p.D320D|DNM2_uc002mpu.1_Silent_p.D320D|DNM2_uc010dxl.1_Silent_p.D320D|DNM2_uc002mpw.2_Silent_p.D53D NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 320 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TTCGGCCCGACGACCCCACCC 0.637 NaN 0 0 0 0.012319 0 21 27 KANK2 25959 broad.mit.edu 37 19 11287304 11287304 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11287304G>A uc010dxv.2 - 9 2268 c.1710C>T c.(1708-1710)CAC>CAT p.H570H KANK2_uc002mqm.2_Silent_p.H578H|KANK2_uc002mqo.3_Silent_p.H570H|KANK2_uc002mqp.1_Silent_p.H379H NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 570 0 CAGTGGGTATGTGCTGAGATT 0.632 NaN 0 0 0 0.01441 0 70 244 DOCK6 57572 broad.mit.edu 37 19 11332547 11332548 + Missense_Mutation DNP GG GG AT TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11332547_11332548GG>AT uc002mqs.3 - 28 3570_3571 c.3529_3530CC>AT c.(3529-3531)CCA>ATA p.P1177I DOCK6_uc010xlq.1_Missense_Mutation_p.P516I NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1177 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATGCAGCCGTGGCAAGGTATCC 0.584 NaN 0 0 0 0.004672 0 92 204 ZNF823 55552 broad.mit.edu 37 19 11832850 11832850 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:11832850T>G uc002msm.2 - 4 1625 c.1499A>C c.(1498-1500)GAG>GCG p.E500A ZNF823_uc010xmd.1_Missense_Mutation_p.E318A|ZNF823_uc010dyi.1_Missense_Mutation_p.E456A NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 500 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTTTTACACTCATAAGGTTT 0.378 NaN HNSCC(68;0.2) 0 0 0 0.014323 0 22 28 BRD4 23476 broad.mit.edu 37 19 15355563 15355563 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:15355563C>T uc002nar.2 - 12 2391 c.2169G>A c.(2167-2169)CCG>CCA p.P723P NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 723 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TTTTTGACTTCGGAGCCATCT 0.567 NaN T NUT|C15orf55 lethal midline carcinoma of young people 0 0 0 0.00623 0 34 172 ANO8 57719 broad.mit.edu 37 19 17440802 17440802 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:17440802G>C uc002ngf.2 - 11 1454 c.1295C>G c.(1294-1296)GCC>GGC p.A432G ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 432 Extracellular (Potential).|Leu-rich. chloride channel complex chloride channel activity ovary(3) 3 CTTCTCATAGGCGCTCTCCAG 0.627 NaN 0 0 0 0.012213 0 30 122 ZNF536 9745 broad.mit.edu 37 19 31040309 31040309 + Silent SNP G G A rs139373364 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:31040309G>A uc002nsu.1 + 4 3921 c.3783G>A c.(3781-3783)CCG>CCA p.P1261P ZNF536_uc010edd.1_Silent_p.P1261P NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGGACAAGCCGATGAACATGC 0.597 NaN 0 0 0 0.008291 0 9 27 FFAR2 2867 broad.mit.edu 37 19 35940871 35940871 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:35940871G>A uc002nzg.2 + 2 335 c.255G>A c.(253-255)ACG>ACA p.T85T FFAR2_uc010eea.2_Silent_p.T85T NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 85 Helical; Name=3; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCGCCCTCACGAGTTTTGGCT 0.622 NaN 0 0 0 0.00245 0 13 22 HCST 10870 broad.mit.edu 37 19 36393522 36393522 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:36393522C>T uc002ocl.1 + 1 141 c.27C>T c.(25-27)TTC>TTT p.F9F NFKBID_uc002oci.1_5'Flank|NFKBID_uc002ocj.1_5'Flank|HCST_uc002ock.1_Silent_p.F9F NM_014266 NP_055081 Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer isoform 1 9 regulation of immune response integral to membrane|plasma membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACATCCTCTTCCTGCTTTTGC 0.582 NaN 0 0 0 0.01441 0 174 213 GRIK5 2901 broad.mit.edu 37 19 42558025 42558025 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:42558025G>A uc002osj.1 - 9 1148 c.1113C>T c.(1111-1113)ACC>ACT p.T371T GRIK5_uc010eib.1_Silent_p.T290T NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 371 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGGTGTAGTTGGTTCTCTGCC 0.662 NaN 0 0 0 0.005443 0 22 51 CEACAM8 1088 broad.mit.edu 37 19 43093837 43093837 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:43093837C>T uc002oud.2 - 3 577 c.475G>A c.(475-477)GAC>AAC p.D159N uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 159 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GCATCCTTGTCCTCCACGGGG 0.552 NaN 0 0 0 0.01441 0 86 214 ERCC2 2068 broad.mit.edu 37 19 45860556 45860556 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:45860556G>A uc002pbj.2 - 15 1498 c.1451C>T c.(1450-1452)ACG>ATG p.T484M ERCC2_uc002pbh.2_Missense_Mutation_p.T47M|ERCC2_uc002pbi.2_Missense_Mutation_p.T177M|ERCC2_uc010ejz.2_Missense_Mutation_p.T406M|ERCC2_uc002pbk.2_Missense_Mutation_p.T460M NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 484 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCGTGCCAGCGTCATGGTGAA 0.652 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.010818 0 27 50 SLC8A2 6543 broad.mit.edu 37 19 47933517 47933517 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:47933517G>A uc002pgx.2 - 10 2873 c.2595C>T c.(2593-2595)TTC>TTT p.F865F SLC8A2_uc010xyq.1_Silent_p.F621F|SLC8A2_uc010xyr.1_Silent_p.F328F|SLC8A2_uc010ele.2_Missense_Mutation_p.R892C NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 865 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCACGAAGGCGAAGACGGTGA 0.726 NaN 0 0 0 0.00308 0 7 23 EHD2 30846 broad.mit.edu 37 19 48229178 48229178 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:48229178C>T uc002phj.3 + 4 862 c.612C>T c.(610-612)ATC>ATT p.I204I EHD2_uc010xyu.1_Silent_p.I68I|EHD2_uc010xyv.1_5'Flank NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 204 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CAGAGGCCATCGGCGCGTTGC 0.637 NaN 0 0 0 0.012319 0 19 32 RASIP1 54922 broad.mit.edu 37 19 49238513 49238513 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49238513G>A uc002pki.2 - 4 1316 c.1119C>T c.(1117-1119)CTC>CTT p.L373L NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 373 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGGCCTGGATGAGGCACTGAG 0.667 NaN 0 0 0 0.004656 0 19 59 PPP1R15A 23645 broad.mit.edu 37 19 49379181 49379181 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49379181C>T uc002pky.3 + 3 2245 c.1976C>T c.(1975-1977)TCG>TTG p.S659L NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 659 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-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;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCTTCCCGCTCGTCTGCTGCT 0.567 NaN 0 0 0 0.01441 0 82 169 GYS1 2997 broad.mit.edu 37 19 49473902 49473902 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49473902G>T uc002plp.2 - 14 1951 c.1710C>A c.(1708-1710)TTC>TTA p.F570L GYS1_uc010xzy.1_Missense_Mutation_p.F203L|GYS1_uc010emm.2_Missense_Mutation_p.F506L|GYS1_uc010xzz.1_Missense_Mutation_p.F490L NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 570 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AACTGTAGAGGAAGGAGGTGA 0.592 NaN OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.35188e-11 0.006122 2.47329e-11 17 58 HRC 3270 broad.mit.edu 37 19 49658061 49658061 + Nonsense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:49658061G>C uc002pmv.2 - 1 621 c.434C>G c.(433-435)TCA>TGA p.S145* TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 145 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|2-2. muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GTGCTCAGCTGAGTCTTCCGT 0.582 NaN 0 0 0 0.00874 0 44 110 KLK2 3817 broad.mit.edu 37 19 51381756 51381756 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:51381756T>C uc002ptv.2 + 5 768 c.727T>C c.(727-729)TAC>CAC p.Y243H KLK2_uc002ptu.2_3'UTR|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.Y226H|KLK2_uc010ycm.1_Missense_Mutation_p.Y141H|KLK2_uc010eoh.2_Missense_Mutation_p.Y141H NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 243 Peptidase S1. proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GCCTGCTGTGTACACCAAGGT 0.537 NaN T ETV4 prostate 0 0 0 0.01441 0 124 266 KLK8 11202 broad.mit.edu 37 19 51499316 51499316 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:51499316C>T uc002pur.1 - 6 961 c.782G>A c.(781-783)TGA>TAA p.*261* KLK8_uc002puq.1_Silent_p.*306*|KLK8_uc002pus.1_Silent_p.*120*|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Silent_p.*261*|KLK9_uc002puv.1_RNA NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 261 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ATCCTAGAATCAGCCCTTGCT 0.537 NaN 0 0 0 0.01441 0 100 245 ZNF160 90338 broad.mit.edu 37 19 53572357 53572357 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:53572357C>T uc010eqk.2 - 7 1846 c.1430G>A c.(1429-1431)GGA>GAA p.G477E ZNF160_uc002qaq.3_Missense_Mutation_p.G477E|ZNF160_uc002qar.3_Missense_Mutation_p.G477E NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 477 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AGGTTTTGTTCCAGTATGGAT 0.398 NaN 0 0 0 0.009718 0 36 84 LILRA2 11027 broad.mit.edu 37 19 55087422 55087422 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:55087422G>T uc002qgg.3 + 6 1190 c.1101G>T c.(1099-1101)CTG>CTT p.L367L LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 367 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CACTGCATCTGAGATCAGAGC 0.587 NaN 1 0 1.15919e-05 0.008871 1.19092e-05 19 122 NLRP4 147945 broad.mit.edu 37 19 56369129 56369129 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:56369129G>A uc002qmd.3 + 3 792 c.370G>A c.(370-372)GAG>AAG p.E124K NLRP4_uc002qmf.2_Missense_Mutation_p.E49K|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 124 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTATACTTTGAGGAGGAAGT 0.473 NaN 0 0 0 0.009718 0 34 69 NLRP5 126206 broad.mit.edu 37 19 56538546 56538546 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:56538546T>A uc002qmj.2 + 7 947 c.947T>A c.(946-948)GTC>GAC p.V316D NLRP5_uc002qmi.2_Missense_Mutation_p.V297D NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 316 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCTCCTACGTCTTCTTCCTC 0.567 NaN 0 0 0 0.004482 0 8 14 ZNF134 7693 broad.mit.edu 37 19 58131977 58131977 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:58131977G>C uc002qpn.2 + 3 589 c.490G>C c.(490-492)GAG>CAG p.E164Q ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR NM_003435 NP_003426 P52741 ZN134_HUMAN zinc finger protein 134 164 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CAGGAGCACTGAGAGTGGGGA 0.488 NaN 0 0 0 0.00333 0 22 35 ZNF324 25799 broad.mit.edu 37 19 58982235 58982235 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr19:58982235C>T uc002qsw.1 + 4 470 c.376C>T c.(376-378)CGG>TGG p.R126W ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCAGAGACAACGGGGTGCCTC 0.602 NaN 0 0 0 0.01441 0 50 109 MYT1L 23040 broad.mit.edu 37 2 1855420 1855420 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:1855420G>A uc002qxe.2 - 19 3594 c.2767C>T c.(2767-2769)CAT>TAT p.H923Y MYT1L_uc002qxd.2_Missense_Mutation_p.H921Y NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 923 C2HC-type 4. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TACCTCCGATGAGAAGCATAA 0.433 NaN 0 0 0 0.01441 0 49 110 RHOB 388 broad.mit.edu 37 2 20647266 20647266 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:20647266G>A uc002rdv.2 + 1 432 c.40G>A c.(40-42)GGC>AGC p.G14S NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 14 GTP (By similarity). G->V: No effect on internalization of EGF receptor but decreases trafficking of receptor to the lysosome with associated accumulation in late endosomes. angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GGTGGGCGACGGCGCGTGTGG 0.677 NaN 0 0 0 0.010818 0 28 72 ITSN2 50618 broad.mit.edu 37 2 24538094 24538094 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:24538094C>T uc002rfe.2 - 3 290 c.32_splice c.e3-1 p.G11_splice ITSN2_uc002rff.2_Splice_Site_p.G11_splice|ITSN2_uc002rfg.2_Splice_Site_p.G11_splice|ITSN2_uc010eyd.2_Splice_Site_p.G11_splice NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGGCCCTCCTGAAACATAA 0.358 NaN 0 0 0 0.003163 0 14 43 C2orf70 339778 broad.mit.edu 37 2 26799014 26799014 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:26799014C>T uc010eyn.2 + 2 319 c.319C>T c.(319-321)CGC>TGC p.R107C NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 107 skin(1) 1 GGACAGCCATCGCTCCACAGA 0.637 NaN 0 0 0 0.01441 0 81 113 BIRC6 57448 broad.mit.edu 37 2 32832645 32832645 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:32832645C>T uc010ezu.2 + 72 14328 c.14194C>T c.(14194-14196)CGA>TGA p.R4732* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4732 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) TGGAAACATTCGACAAGCAAC 0.378 NaN 0 0 0 0.009535 0 31 52 FAM98A 25940 broad.mit.edu 37 2 33813494 33813494 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:33813494G>A uc002rpa.1 - 4 504 c.430C>T c.(430-432)CAA>TAA p.Q144* FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Nonsense_Mutation_p.Q21* NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 144 ovary(1) 1 all_hematologic(175;0.115) TTCAACTCTTGAAAGACCTCA 0.423 NaN 0 0 0 0.00623 0 35 87 ZFP36L2 678 broad.mit.edu 37 2 43452474 43452474 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:43452474C>T uc002rsv.3 - 2 760 c.469G>A c.(469-471)GAG>AAG p.E157K LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 157 C3H1-type 1.|RNA-binding. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CGGCACAGCTCGGTCTTGTAG 0.652 NaN 0 0 0 0.013537 0 12 45 ZFP36L2 678 broad.mit.edu 37 2 43452478 43452478 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:43452478C>G uc002rsv.3 - 2 756 c.465G>C c.(463-465)AAG>AAC p.K155N LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 155 C3H1-type 1.|RNA-binding. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) ACAGCTCGGTCTTGTAGCGCG 0.657 NaN 0 0 0 0.010729 0 11 47 ATP6V1E2 90423 broad.mit.edu 37 2 46739578 46739578 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:46739578G>C uc002ruy.2 - 2 1387 c.273C>G c.(271-273)ATC>ATG p.I91M ATP6V1E2_uc002ruz.2_Missense_Mutation_p.I91M NM_080653 NP_542384 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 91 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) GCAAATCTGAGATGAGGTCAT 0.527 NaN 0 0 0 0.003755 0 29 70 SPTBN1 6711 broad.mit.edu 37 2 54848571 54848571 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:54848571A>T uc002rxu.2 + 8 1047 c.798A>T c.(796-798)ATA>ATT p.I266I SPTBN1_uc002rxv.1_Silent_p.I266I|SPTBN1_uc002rxx.2_Silent_p.I253I NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 266 CH 2.|Actin-binding. 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) AGAAGTCCATAATCACTTATG 0.463 NaN 0 0 0 0.004878 0 33 72 REG3A 5068 broad.mit.edu 37 2 79385578 79385578 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:79385578C>T uc002sod.1 - 3 462 c.207G>A c.(205-207)CAG>CAA p.Q69Q REG3A_uc002soe.1_Silent_p.Q69Q|REG3A_uc002sof.1_Silent_p.Q69Q NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 69 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 AGGGCCGCTTCTGGCAGGCCA 0.572 NaN 0 0 0 0.005524 0 32 76 LRRTM1 347730 broad.mit.edu 37 2 80530727 80530727 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:80530727C>T uc002sok.1 - 2 488 c.218G>A c.(217-219)CGC>CAC p.R73H CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 73 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCTGTTGTAGCGCAGGGACAA 0.662 NaN HNSCC(69;0.2) 0 0 0 0.01441 0 48 114 POLR1A 25885 broad.mit.edu 37 2 86305369 86305369 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:86305369C>T uc002sqs.2 - 10 1504 c.1125G>A c.(1123-1125)TTG>TTA p.L375L POLR1A_uc002sqv.2_Silent_p.L375L NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 375 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GAAGTGTACTCAAAAAGGATC 0.423 NaN 0 0 0 0.00333 0 22 41 ANKRD36 375248 broad.mit.edu 37 2 97779539 97779539 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:97779539C>G uc010yva.1 + 1 307 c.63C>G c.(61-63)TTC>TTG p.F21L ANKRD36_uc002sxn.2_Missense_Mutation_p.F21L|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.F21L|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 21 0 CGGATGGCTTCGCATTTCCCC 0.512 NaN 0 0 0 0.01441 0 54 90 EIF5B 9669 broad.mit.edu 37 2 99998633 99998633 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:99998633G>C uc002tab.2 + 13 2257 c.2073G>C c.(2071-2073)GAG>GAC p.E691D NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 691 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TTGATAGAGAGAATGTACGGA 0.353 NaN 0 0 0 0.006214 0 8 53 SLC5A7 60482 broad.mit.edu 37 2 108608587 108608587 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:108608587C>T uc002tdv.2 + 3 480 c.204C>T c.(202-204)ATC>ATT p.I68I SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I68I|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 68 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GAGGGTATATCAATGGCACAG 0.393 NaN 0 0 0 0.011902 0 34 75 RANBP2 5903 broad.mit.edu 37 2 109398640 109398640 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:109398640A>G uc002tem.3 + 27 8943 c.8817A>G c.(8815-8817)AAA>AAG p.K2939K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2939 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AGAGAGCCAAACTTTATAGAT 0.363 NaN 0 0 0 0.010504 0 17 28 PSD4 23550 broad.mit.edu 37 2 113955352 113955352 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:113955352A>G uc002tjc.2 + 14 2669 c.2486A>G c.(2485-2487)GAG>GGG p.E829G PSD4_uc002tjd.2_Missense_Mutation_p.E449G|PSD4_uc002tje.2_Missense_Mutation_p.E799G|PSD4_uc002tjf.2_Missense_Mutation_p.E450G|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Missense_Mutation_p.E59G|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 829 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTGGAGGGGGAGAGCTTGGTG 0.622 NaN 0 0 0 0.000602 0 3 107 DPP10 57628 broad.mit.edu 37 2 116066832 116066832 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:116066832C>T uc002tla.1 + 2 535 c.78C>T c.(76-78)AGC>AGT p.S26S DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Silent_p.S22S|DPP10_uc002tle.2_Silent_p.S30S|DPP10_uc002tlf.1_Silent_p.S19S NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 26 Mediates effects on KCND2.|Cytoplasmic (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GAAGTAACAGCCCTCCACAGA 0.403 NaN 0 0 0 0.008871 0 19 24 DPP10 57628 broad.mit.edu 37 2 116572442 116572442 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:116572442G>A uc002tla.1 + 20 2231 c.1774G>A c.(1774-1776)GAT>AAT p.D592N DPP10_uc002tlb.1_Missense_Mutation_p.D542N|DPP10_uc002tlc.1_Missense_Mutation_p.D588N|DPP10_uc002tle.2_Missense_Mutation_p.D596N|DPP10_uc002tlf.1_Missense_Mutation_p.D585N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 592 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CATTGACATGGATAATGTCAT 0.413 NaN 0 0 0 0.00333 0 20 73 WDR33 55339 broad.mit.edu 37 2 128467402 128467402 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:128467402C>T uc002tpg.1 - 19 3520 c.3337G>A c.(3337-3339)GAG>AAG p.E1113K NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1113 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCACGGCCCTCATGCCTCGGC 0.522 NaN 0 0 0 0.01441 0 73 130 WDR33 55339 broad.mit.edu 37 2 128482710 128482710 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:128482710G>C uc002tpg.1 - 9 1114 c.931C>G c.(931-933)CTC>GTC p.L311V NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 311 WD 5. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGTTTACAGAGATGATCACGT 0.383 NaN 0 0 0 0.010729 0 9 13 POTEF 728378 broad.mit.edu 37 2 130878029 130878029 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:130878029G>C uc010fmh.2 - 3 460 c.60C>G c.(58-60)CTC>CTG p.L20L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 20 cell cortex ATP binding skin(3)|ovary(2) 5 TCTTGCTCCTGAGACCAAATG 0.557 NaN 0 0 0 0.006999 0 23 146 CCDC115 84317 broad.mit.edu 37 2 131098587 131098587 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:131098587A>C uc002tqy.1 - 4 548 c.324T>G c.(322-324)ACT>ACG p.T108T CCDC115_uc002tqw.1_Silent_p.T100T|CCDC115_uc010zaf.1_Silent_p.T103T|CCDC115_uc002tqx.2_Silent_p.T103T|CCDC115_uc002tqz.1_Silent_p.T108T|IMP4_uc002tra.1_5'Flank NM_032357 NP_115733 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 108 endosome|lysosome 0 Colorectal(110;0.1) CTGGGGTCTTAGTGGGGCCCT 0.522 NaN 0 0 0 0.001168 0 5 17 FAM168B 130074 broad.mit.edu 37 2 131810476 131810476 + Nonstop_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:131810476T>C uc002tsd.2 - 6 817 c.588A>G c.(586-588)TGA>TGG p.*196W NM_001009993 NP_001009993 A1KXE4 F168B_HUMAN hypothetical protein LOC130074 196 0 TTGCAGGTGATCACCACTGAG 0.557 NaN 0 0 0 0.009096 0 3 8 GPR39 2863 broad.mit.edu 37 2 133174626 133174626 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133174626C>T uc002ttl.2 + 1 480 c.11C>T c.(10-12)CCC>CTC p.P4L NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 4 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 ATGGCTTCACCCAGCCTCCCG 0.517 NaN 0 0 0 0.003755 0 28 51 NCKAP5 344148 broad.mit.edu 37 2 133531409 133531409 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133531409A>G uc002ttp.2 - 16 5482 c.5108T>C c.(5107-5109)GTA>GCA p.V1703A NCKAP5_uc002ttq.2_Missense_Mutation_p.V384A NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1703 protein binding 0 GCTCTGAAATACAGAATCTGC 0.343 NaN 0 0 0 0.01441 0 40 67 NCKAP5 344148 broad.mit.edu 37 2 133721430 133721430 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:133721430C>T uc002ttp.2 - 8 816 c.442G>A c.(442-444)GAG>AAG p.E148K NCKAP5_uc002ttq.2_Missense_Mutation_p.E148K|NCKAP5_uc002tts.1_Missense_Mutation_p.E123K NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 148 Potential. protein binding 0 CTCTCTTCCTCTGACAGCTTT 0.403 NaN 0 0 0 0.003163 0 14 83 ZEB2 9839 broad.mit.edu 37 2 145154073 145154073 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:145154073G>C uc002tvu.2 - 9 3453 c.2973C>G c.(2971-2973)ATC>ATG p.I991M ZEB2_uc002tvv.2_Missense_Mutation_p.I985M|ZEB2_uc010zbm.1_Missense_Mutation_p.I962M|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 991 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CTGTCTTCTTGATCTTTTTGC 0.443 NaN 0 0 0 0.01441 0 56 91 GALNT13 114805 broad.mit.edu 37 2 155099224 155099224 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:155099224G>C uc002tyr.3 + 6 1059 c.492G>C c.(490-492)TTG>TTC p.L164F GALNT13_uc002tyt.3_Missense_Mutation_p.L164F|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 164 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTCTCAAGTTGACATTAGAGA 0.338 NaN 0 0 0 0.010729 0 11 25 SCRN3 79634 broad.mit.edu 37 2 175263091 175263091 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:175263091C>G uc002uiq.2 + 2 168 c.80C>G c.(79-81)TCA>TGA p.S27* CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 27 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) GGAAAAAATTCAGATAGACTC 0.343 NaN 0 0 0 0.008871 0 18 96 TTN 7273 broad.mit.edu 37 2 179480041 179480041 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:179480041C>T uc010zfg.1 - 208 41151 c.40927G>A c.(40927-40929)GAA>AAA p.E13643K uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7338K|TTN_uc010zfi.1_Missense_Mutation_p.E7271K|TTN_uc010zfj.1_Missense_Mutation_p.E7146K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14570 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) TACTTTGTTTCTGCAACAGGT 0.373 NaN 0 0 0 0.004656 0 23 36 ANKAR 150709 broad.mit.edu 37 2 190593496 190593496 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:190593496G>A uc002uqw.1 + 14 2929 c.2929G>A c.(2929-2931)GCT>ACT p.A977T ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.A144T NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1048 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TAGTACGATTGCTGAAGGCAC 0.373 NaN 0 0 0 0.01441 0 55 28 MYO1B 4430 broad.mit.edu 37 2 192256914 192256914 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:192256914G>C uc010fsg.2 + 19 2318 c.2063G>C c.(2062-2064)CGA>CCA p.R688P MYO1B_uc002usq.2_Missense_Mutation_p.R688P|MYO1B_uc002usr.2_Missense_Mutation_p.R688P|MYO1B_uc002usu.2_5'UTR NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 688 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) ATATTCATCCGAAACCCAAGA 0.303 NaN 0 0 0 0.004007 0 12 49 DNAH7 56171 broad.mit.edu 37 2 196729276 196729276 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:196729276G>C uc002utj.3 - 41 7204 c.7103C>G c.(7102-7104)TCT>TGT p.S2368C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2368 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATACCCCTTAGAGATTTCAAC 0.448 NaN 0 0 0 0.013537 0 9 70 CDK15 65061 broad.mit.edu 37 2 202744799 202744799 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:202744799A>C uc002uyt.2 + 12 1156 c.1107A>C c.(1105-1107)AAA>AAC p.K369N CDK15_uc002uys.2_Missense_Mutation_p.K318N|CDK15_uc010ftn.1_Missense_Mutation_p.K318N|CDK15_uc002uyu.1_RNA NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 369 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) AGATGCTAAAAGGCTTTCCCA 0.542 NaN 0 0 0 0.007413 0 16 53 NBEAL1 65065 broad.mit.edu 37 2 204078256 204078256 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204078256C>G uc002uzt.3 + 54 8196 c.7863C>G c.(7861-7863)ATC>ATG p.I2621M NBEAL1_uc002uzs.3_Missense_Mutation_p.I1262M|NBEAL1_uc002uzu.2_Missense_Mutation_p.I116M NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2621 binding ovary(1)|skin(1) 2 ATCTCAGCATCAACCCATTAG 0.289 NaN 0 0 0 0.003163 0 14 97 CYP20A1 57404 broad.mit.edu 37 2 204154576 204154576 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204154576G>A uc002uzv.3 + 10 1682 c.1060G>A c.(1060-1062)GAC>AAC p.D354N CYP20A1_uc002uzx.3_Missense_Mutation_p.D252N|CYP20A1_uc010zif.1_Missense_Mutation_p.D362N|CYP20A1_uc002uzy.3_Missense_Mutation_p.D252N|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.D84N NM_177538 NP_803882 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, 354 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 AGGAAAAATTGACCGATTTAT 0.333 NaN 0 0 0 0.00874 0 42 23 RAPH1 65059 broad.mit.edu 37 2 204304271 204304271 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:204304271C>G uc002vad.2 - 14 3867 c.3642G>C c.(3640-3642)CAG>CAC p.Q1214H NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 1214 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 AACCAGCCTTCTGTTGATCAG 0.562 NaN 0 0 0 0.001168 0 6 33 INO80D 54891 broad.mit.edu 37 2 206869295 206869295 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:206869295C>T uc002vaz.3 - 11 3286 c.2881G>A c.(2881-2883)GAA>AAA p.E961K NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D Error:Variant_position_missing_in_Q53TQ3_after_alignment DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GCCATTAGTTCAGCAGAAGGC 0.597 NaN 0 0 0 0.010729 0 9 11 ADAM23 8745 broad.mit.edu 37 2 207452091 207452091 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:207452091C>G uc002vbq.2 + 19 2003 c.1780C>G c.(1780-1782)CAA>GAA p.Q594E ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 594 Cys-rich.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGCATGCAATCAAAATCAGGT 0.289 NaN 0 0 0 0.013537 0 10 47 IDH1 3417 broad.mit.edu 37 2 209108167 209108167 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:209108167G>A uc002vcs.2 - 6 928 c.682C>T c.(682-684)CAG>TAG p.Q228* IDH1_uc002vct.2_Nonsense_Mutation_p.Q228*|IDH1_uc002vcu.2_Nonsense_Mutation_p.Q228* NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 228 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TATATCTCCTGAAAGATGTCT 0.353 NaN Mis gliobastoma 0 0 0 0.005443 0 25 39 CPS1 1373 broad.mit.edu 37 2 211513262 211513262 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:211513262G>A uc002vee.3 + 27 3534 c.3402G>A c.(3400-3402)TTG>TTA p.L1134L CPS1_uc010fur.2_Silent_p.L1140L|CPS1_uc010fus.2_Silent_p.L683L NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1134 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTATGTTTTGAGGTAACACT 0.348 NaN 0 0 0 0.008291 0 9 73 FN1 2335 broad.mit.edu 37 2 216226285 216226285 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:216226285C>T uc002vfa.2 - 46 7693 c.7427G>A c.(7426-7428)CGA>CAA p.R2476Q FN1_uc002vfb.2_Missense_Mutation_p.R2264Q|FN1_uc002vfc.2_Missense_Mutation_p.R2239Q|FN1_uc002vfd.2_Missense_Mutation_p.R2420Q|FN1_uc002vfe.2_Missense_Mutation_p.R2354Q|FN1_uc002vff.2_Missense_Mutation_p.R2329Q|FN1_uc002vfg.2_Missense_Mutation_p.R2295Q|FN1_uc002vfh.2_Missense_Mutation_p.R2175Q|FN1_uc002vfi.2_Missense_Mutation_p.R2445Q|FN1_uc002vfj.2_Missense_Mutation_p.R2266Q|FN1_uc002vez.2_Missense_Mutation_p.R639Q|FN1_uc010zjp.1_Missense_Mutation_p.R1013Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2385 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTTACTCTCGGGAATCTTC 0.408 NaN 0 0 0 0.008361 0 26 152 DOCK10 55619 broad.mit.edu 37 2 225751218 225751218 + Silent SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:225751218T>A uc010fwz.1 - 5 686 c.447A>T c.(445-447)TCA>TCT p.S149S DOCK10_uc002vob.2_Silent_p.S143S|DOCK10_uc002vod.1_Silent_p.S149S NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 149 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAAAGGAATGTGAAGGAAGCT 0.333 NaN 0 0 0 0.010729 0 10 5 COL4A3 1285 broad.mit.edu 37 2 228157990 228157990 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:228157990A>T uc002vom.1 + 38 3456 c.3294A>T c.(3292-3294)GGA>GGT p.G1098G COL4A3_uc002von.1_Silent_p.G1098G|COL4A3_uc002voo.1_Silent_p.G1098G|COL4A3_uc002vop.1_Silent_p.G1098G|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1098 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCTGCTGGACCTGAGGGAG 0.527 NaN 0 0 0 0.004672 0 3 29 RAMP1 10267 broad.mit.edu 37 2 238820246 238820246 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:238820246G>T uc002vxj.2 + 3 400 c.268G>T c.(268-270)GAC>TAC p.D90Y NM_005855 NP_005846 O60894 RAMP1_HUMAN receptor activity-modifying protein 1 precursor 90 Extracellular (Potential). intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity 0 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) TGCAGAGGTGGACAGGTTCTT 0.642 NaN 1 0 4.01765e-15 0.009718 4.26278e-15 38 55 ASB1 51665 broad.mit.edu 37 2 239353166 239353166 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:239353166C>T uc002vyg.2 + 4 764 c.678C>T c.(676-678)GTC>GTT p.V226V NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 226 intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) ATGGTCCTGTCAACACACAGG 0.597 NaN 0 0 0 0.00308 0 6 99 CSNK2A1 1457 broad.mit.edu 37 20 470507 470507 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:470507C>A uc002wdw.1 - 10 1033 c.640G>T c.(640-642)GAT>TAT p.D214Y CSNK2A1_uc002wdx.1_Missense_Mutation_p.D214Y|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D78Y NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 214 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CTCCACATATCCAAACTATAA 0.323 NaN 1 0 3.62473e-10 0.012319 3.78394e-10 21 51 SRXN1 140809 broad.mit.edu 37 20 629543 629543 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:629543G>T uc002wea.2 - 2 290 c.229C>A c.(229-231)CCC>ACC p.P77T SRXN1_uc002web.2_RNA NM_080725 NP_542763 Q9BYN0 SRXN1_HUMAN sulfiredoxin 1 homolog 77 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity ovary(1) 1 TCGATGGGGGGCACGCTGTCT 0.577 NaN 1 0 2.17888e-05 0.006214 2.23531e-05 9 40 VPS16 64601 broad.mit.edu 37 20 2844876 2844876 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:2844876A>G uc002whe.2 + 17 1711 c.1663A>G c.(1663-1665)ATG>GTG p.M555V VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.M411V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.M241V|VPS16_uc002whi.2_Missense_Mutation_p.M39V NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 555 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 TCTCCTAAAGATGAAGAGGAG 0.617 NaN 0 0 0 0.012213 0 26 86 PANK2 80025 broad.mit.edu 37 20 3869809 3869809 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:3869809C>T uc002wkc.2 + 1 68 c.62C>T c.(61-63)TCT>TTT p.S21F uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 21 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 TCACTCTCTTCTGGGCTACAC 0.677 NaN 0 0 0 0.006122 0 19 14 TRMT6 51605 broad.mit.edu 37 20 5924896 5924896 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:5924896T>A uc002wmh.1 - 4 492 c.370A>T c.(370-372)ATA>TTA p.I124L TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 124 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 TGCTGAACTATTTCCTATAAG 0.308 NaN 0 0 0 0.003163 0 12 17 PLCB4 5332 broad.mit.edu 37 20 9288501 9288501 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:9288501C>T uc002wnf.2 + 3 176 c.40C>T c.(40-42)CCC>TCC p.P14S PLCB4_uc010gbw.1_Missense_Mutation_p.P14S|PLCB4_uc010gbx.2_Missense_Mutation_p.P14S|PLCB4_uc002wne.2_Missense_Mutation_p.P14S NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 14 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 GAAGGAAGTTCCCTCCTTTTT 0.299 NaN 0 0 0 0.004007 0 12 28 CRNKL1 51340 broad.mit.edu 37 20 20023021 20023021 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:20023021C>T uc002wrs.2 - 9 1627 c.1595G>A c.(1594-1596)CGC>CAC p.R532H NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 532 HAT 9. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 ATAAATGTAGCGCTTCCAGTG 0.448 NaN 0 0 0 0.01441 0 48 75 ABHD12 26090 broad.mit.edu 37 20 25297683 25297683 + Splice_Site SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:25297683C>A uc002wus.1 - 5 711 c.573_splice c.e5+1 p.K191_splice ABHD12_uc002wuq.2_Splice_Site_p.K191_splice|ABHD12_uc002wur.2_Splice_Site_p.K191_splice|ABHD12_uc002wut.1_Splice_Site_p.K191_splice|ABHD12_uc002wuu.1_Splice_Site NM_001042472 NP_001035937 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 isoform a integral to membrane acylglycerol lipase activity skin(1) 1 CCTGCACTCACCTTGTAAAGC 0.547 NaN 1 0 2.40579e-17 0.00623 2.57171e-17 31 55 XKR7 343702 broad.mit.edu 37 20 30584822 30584822 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:30584822C>T uc002wxe.2 + 3 1476 c.1302C>T c.(1300-1302)GTC>GTT p.V434V NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 434 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCATGTGTGTCTACTACTGTC 0.587 NaN 0 0 0 0.00632 0 25 103 KIF3B 9371 broad.mit.edu 37 20 30897794 30897794 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:30897794C>T uc002wxq.2 + 2 381 c.214C>T c.(214-216)CTG>TTG p.L72L KIF3B_uc010ztv.1_Silent_p.L72L|KIF3B_uc010ztw.1_Silent_p.L72L NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 72 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCAGTTTGAACTGTACGATGA 0.498 NaN 0 0 0 0.010729 0 8 81 TOMM34 10953 broad.mit.edu 37 20 43580587 43580587 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:43580587G>A uc002xmy.2 - 4 577 c.437C>T c.(436-438)TCA>TTA p.S146L PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 146 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) CAAGGGGATTGAGGGCAGCTT 0.527 NaN 0 0 0 0.009718 0 40 172 MATN4 8785 broad.mit.edu 37 20 43927050 43927050 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:43927050C>T uc002xnn.2 - 7 1373 c.1186G>A c.(1186-1188)GAG>AAG p.E396K MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 437 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) AGAGGGAACTCGGTGCGCACG 0.657 NaN 0 0 0 0.01441 0 93 64 TNNC2 7125 broad.mit.edu 37 20 44453014 44453014 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:44453014C>T uc002xpr.2 - 4 297 c.231G>A c.(229-231)TTG>TTA p.L77L NM_003279 NP_003270 P02585 TNNC2_HUMAN fast skeletal muscle troponin C 77 EF-hand 2. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(115;0.0122) CCATCATGACCAAGAACTCCT 0.662 NaN 0 0 0 0.003271 0 31 168 NCOA3 8202 broad.mit.edu 37 20 46254142 46254142 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:46254142G>A uc002xtk.2 + 5 479 c.274G>A c.(274-276)GAT>AAT p.D92N NCOA3_uc010ght.1_Missense_Mutation_p.D92N|NCOA3_uc002xtl.2_Missense_Mutation_p.D92N|NCOA3_uc002xtm.2_Missense_Mutation_p.D92N|NCOA3_uc002xtn.2_Missense_Mutation_p.D92N|NCOA3_uc010zyc.1_5'Flank NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 92 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TATTTCCAATGATGATGATGT 0.368 NaN 0 0 0 0.01441 0 54 39 ZNF217 7764 broad.mit.edu 37 20 52199147 52199147 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr20:52199147G>A uc002xwq.3 - 1 490 c.219C>T c.(217-219)ACC>ACT p.T73T ZNF217_uc010gij.1_Silent_p.T65T NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 73 C2H2-type 1. negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) AATGTGTGAAGGTCTGGCTGC 0.463 NaN 0 0 0 0.009718 0 42 96 SYNJ1 8867 broad.mit.edu 37 21 34022588 34022588 + Missense_Mutation SNP C C G rs115683257 byFrequency TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:34022588C>G uc002yqh.2 - 23 3060 c.3060G>C c.(3058-3060)ATG>ATC p.M1020I SYNJ1_uc011ads.1_Missense_Mutation_p.M976I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M981I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M976I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M1020I NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 981 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TCTCTAAACTCATTTCTTCTT 0.353 NaN 0 0 0 0.01441 0 39 80 MORC3 23515 broad.mit.edu 37 21 37744784 37744784 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:37744784C>A uc002yvi.2 + 16 2697 c.2621C>A c.(2620-2622)ACA>AAA p.T874K NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 874 Potential. cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 GATGTTTCAACATCAAGTAAC 0.358 NaN 1 0 1.5739e-10 0.004007 1.64785e-10 13 47 KCNJ15 3772 broad.mit.edu 37 21 39671488 39671488 + Nonsense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:39671488C>G uc002ywv.2 + 4 607 c.305C>G c.(304-306)TCA>TGA p.S102* KCNJ15_uc002yww.2_Nonsense_Mutation_p.S102*|KCNJ15_uc002ywx.2_Nonsense_Mutation_p.S102* NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 102 Extracellular (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 GAGCCCATTTCAAATCATACC 0.493 NaN 0 0 0 0.01441 0 52 69 ERG 2078 broad.mit.edu 37 21 39755585 39755585 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:39755585C>A uc010gnw.2 - 12 1496 c.1201G>T c.(1201-1203)GGG>TGG p.G401W ERG_uc002yxa.2_Missense_Mutation_p.G394W|ERG_uc011aek.1_Missense_Mutation_p.G302W|ERG_uc010gnv.2_Missense_Mutation_p.G278W|ERG_uc010gnx.2_Missense_Mutation_p.G377W|ERG_uc011ael.1_Missense_Mutation_p.G401W|ERG_uc002yxb.2_Missense_Mutation_p.G377W NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 401 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) TGGGCGATCCCGTGGAAGTCG 0.582 NaN 1 0 1.2582e-26 0.01441 1.3613e-26 56 98 BRWD1 54014 broad.mit.edu 37 21 40590434 40590434 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:40590434G>T uc002yxk.1 - 30 3674 c.3535C>A c.(3535-3537)CTT>ATT p.L1179I BRWD1_uc010goc.1_Intron|BRWD1_uc002yxl.2_Missense_Mutation_p.L1179I|BRWD1_uc010god.1_Missense_Mutation_p.L145I NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1179 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) AACTTACCAAGATTCAAAAGT 0.284 NaN 1 0 5.18039e-06 0.00308 5.3299e-06 6 27 TMPRSS2 7113 broad.mit.edu 37 21 42840425 42840425 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:42840425G>A uc002yzj.2 - 12 1346 c.1212C>T c.(1210-1212)CTC>CTT p.L404L TMPRSS2_uc010gor.2_Silent_p.L441L|TMPRSS2_uc010gos.1_Silent_p.L404L NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 404 Peptidase S1.|Extracellular (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GTGTCTCAATGAGAAGCACCT 0.542 NaN T ERG|ETV1|ETV4|ETV5 prostate 0 0 0 0.007291 0 29 45 PCNT 5116 broad.mit.edu 37 21 47746353 47746353 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:47746353G>A uc002zji.3 + 2 224 c.117G>A c.(115-117)GCG>GCA p.A39A PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 39 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AAAAGACGGCGAAGAGGAAGG 0.507 NaN 0 0 0 0.009535 0 28 53 PCNT 5116 broad.mit.edu 37 21 47858172 47858172 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr21:47858172G>A uc002zji.3 + 41 9302 c.9195G>A c.(9193-9195)GAG>GAA p.E3065E PCNT_uc002zjj.2_Silent_p.E2868E NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 3065 Interaction with NEK2.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGACCCAGGAGAAGCTGGAGC 0.527 NaN 0 0 0 0.006214 0 8 61 CABIN1 23523 broad.mit.edu 37 22 24479187 24479187 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:24479187G>A uc002zzi.1 + 20 2882 c.2755G>A c.(2755-2757)GTA>ATA p.V919I CABIN1_uc002zzj.1_Missense_Mutation_p.V869I|CABIN1_uc002zzl.1_Missense_Mutation_p.V919I NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 919 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ACAGGTGCGAGTACTCCAGAA 0.582 NaN 0 0 0 0.009096 0 3 68 AP1B1 162 broad.mit.edu 37 22 29745219 29745219 + Missense_Mutation SNP G G C rs144812422 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:29745219G>C uc003afj.2 - 11 1609 c.1425C>G c.(1423-1425)GAC>GAG p.D475E AP1B1_uc003afi.2_Missense_Mutation_p.D475E|AP1B1_uc003afk.2_Missense_Mutation_p.D475E|AP1B1_uc003afl.2_Missense_Mutation_p.D475E|AP1B1_uc011ako.1_Missense_Mutation_p.D28E NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 475 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GTGTGCTCTCGTCATGGAAGC 0.612 NaN 0 0 0 0.01441 0 46 110 NEFH 4744 broad.mit.edu 37 22 29885744 29885744 + Silent SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:29885744T>C uc003afo.2 + 4 2186 c.2115T>C c.(2113-2115)CCT>CCC p.P705P NEFH_uc003afp.2_5'UTR NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 711 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|21. cell death|nervous system development neurofilament 0 CAAAGTCCCCTGAGAAGGCCA 0.562 NaN 0 0 0 0.000602 0 3 163 SYN3 8224 broad.mit.edu 37 22 33264982 33264982 + Missense_Mutation SNP C C T rs77543787 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:33264982C>T uc003amx.2 - 4 751 c.592G>A c.(592-594)GTC>ATC p.V198I SYN3_uc003amy.2_Missense_Mutation_p.V198I|SYN3_uc003amz.2_Missense_Mutation_p.V197I NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 198 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 AAGTTGTAGACGGAGTAGAGA 0.632 NaN 0 0 0 0.014323 0 19 40 GGA1 26088 broad.mit.edu 37 22 38014472 38014472 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:38014472G>C uc003atc.2 + 4 587 c.222G>C c.(220-222)ATG>ATC p.M74I GGA1_uc003atd.2_Missense_Mutation_p.M74I|GGA1_uc003ate.2_Missense_Mutation_p.M74I|GGA1_uc003atf.2_Missense_Mutation_p.M1I NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 74 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|ovary(1) 3 Melanoma(58;0.0574) AAACATGCATGAAGAGCTGCG 0.637 NaN 0 0 0 0.014323 0 18 70 TNRC6B 23112 broad.mit.edu 37 22 40711471 40711471 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:40711471A>T uc011aor.1 + 20 5074 c.4863A>T c.(4861-4863)TCA>TCT p.S1621S TNRC6B_uc003aym.2_Silent_p.S817S|TNRC6B_uc003ayn.3_Silent_p.S1511S|TNRC6B_uc003ayo.2_Silent_p.S1368S NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1621 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CACCCCGATCAGTCAGGGGGT 0.582 NaN 0 0 0 0.01441 0 39 147 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45198028 45198028 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr22:45198028C>T uc003bfd.2 + 9 1185 c.913C>T c.(913-915)CAC>TAC p.H305Y PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.H182Y|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.H173Y|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.H87Y|ARHGAP8_uc003bfi.2_Missense_Mutation_p.H51Y|ARHGAP8_uc010gzv.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfj.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfk.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.H87Y NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 CGAGCTGGACCACCAGCGGCT 0.597 NaN 0 0 0 0.010729 0 11 72 GRM7 2917 broad.mit.edu 37 3 7348315 7348315 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:7348315C>G uc003bqm.2 + 4 1283 c.1009C>G c.(1009-1011)CAG>GAG p.Q337E GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.Q337E|GRM7_uc003bql.2_Missense_Mutation_p.Q337E|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 337 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CATCACCATTCAGCCCAAGCG 0.507 NaN 0 0 0 0.008291 0 9 78 FANCD2 2177 broad.mit.edu 37 3 10138051 10138051 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:10138051C>G uc003buw.2 + 42 4158 c.4080C>G c.(4078-4080)CTC>CTG p.L1360L FANCD2_uc003bux.1_Silent_p.L1360L|FANCD2_uc003buy.1_Silent_p.L1360L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1360 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGCCTCTGCTCAAAAAGACCC 0.423 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 48 58 RAF1 5894 broad.mit.edu 37 3 12653512 12653512 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:12653512A>C uc003bxf.3 - 3 672 c.257T>G c.(256-258)CTC>CGC p.L86R RAF1_uc011aut.1_5'Flank|RAF1_uc011auu.1_Intron NM_002880 NP_002871 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 86 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|SRGAP3/RAF1(4) central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1) 14 Sorafenib(DB00398) CCTCACCTTGAGTGCTTTCAT 0.488 NaN T SRGAP3 pilocytic astrocytoma Noonan_syndrome 0 0 0 0.01441 0 47 172 FGD5 152273 broad.mit.edu 37 3 14941941 14941941 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:14941941C>G uc003bzc.2 + 8 3296 c.3186C>G c.(3184-3186)GCC>GCG p.A1062A FGD5_uc011avk.1_Silent_p.A1062A|FGD5_uc003bzd.2_Silent_p.A140A NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1062 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CGGACTCCGCCGAGTACGACA 0.577 NaN 0 0 0 0.008291 0 8 39 ZNF385D 79750 broad.mit.edu 37 3 21466996 21466996 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:21466996C>G uc003cce.2 - 6 1248 c.840G>C c.(838-840)ACG>ACC p.T280T NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 280 Matrin-type 3. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GTTTAAGTTGCGTTTCCGAGT 0.413 NaN 0 0 0 0.013537 0 9 67 NGLY1 55768 broad.mit.edu 37 3 25770771 25770771 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:25770771C>G uc003cdl.2 - 10 1572 c.1464G>C c.(1462-1464)AAG>AAC p.K488N NGLY1_uc010hfg.2_Missense_Mutation_p.K470N|NGLY1_uc003cdm.2_Missense_Mutation_p.K488N|NGLY1_uc011awo.1_Missense_Mutation_p.K446N|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 488 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 GTTTAGAAATCTTCTCATTTT 0.313 NaN 0 0 0 0.010729 0 11 13 DYNC1LI1 51143 broad.mit.edu 37 3 32578521 32578521 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:32578521G>C uc003cfb.3 - 6 902 c.814C>G c.(814-816)CGG>GGG p.R272G DYNC1LI1_uc011axh.1_Missense_Mutation_p.R156G NM_016141 NP_057225 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 272 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 CAAAACTTCCGGATATGTGAC 0.264 NaN 0 0 0 0.004656 0 23 46 STAC 6769 broad.mit.edu 37 3 36422160 36422160 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:36422160G>A uc003cgh.1 + 1 64 c.25G>A c.(25-27)GAG>AAG p.E9K STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.E9K NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 9 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 CAGCCCCCGCGAGGACGGCGT 0.721 NaN 0 0 0 0.001168 0 3 22 MAP4 4134 broad.mit.edu 37 3 47894824 47894824 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:47894824C>T uc003csb.2 - 18 3806 c.3280G>A c.(3280-3282)GAG>AAG p.E1094K MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Missense_Mutation_p.E173K|MAP4_uc003crx.2_Missense_Mutation_p.E270K|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.E829K|MAP4_uc003csa.3_Missense_Mutation_p.E760K|MAP4_uc003crz.3_RNA NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 1094 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AGAGGAGCCTCGCTGCCACCG 0.652 NaN 0 0 0 0.000602 0 5 8 CCDC71 64925 broad.mit.edu 37 3 49201299 49201299 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:49201299T>A uc003cwg.3 - 2 481 c.343A>T c.(343-345)ACA>TCA p.T115S NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 115 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGAAGCAGTGTGGCCCGACCT 0.602 NaN 0 0 0 0.009718 0 43 64 MON1A 84315 broad.mit.edu 37 3 49949438 49949438 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:49949438C>T uc003cxz.2 - 3 551 c.425G>A c.(424-426)GGC>GAC p.G142D MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 45 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACCCTCCTGGCCCGCACCTGC 0.607 NaN 0 0 0 0.005443 0 21 74 IFRD2 7866 broad.mit.edu 37 3 50326727 50326727 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:50326727C>T uc011bdp.1 - 8 1165 c.1036G>A c.(1036-1038)GAA>AAA p.E346K IFRD2_uc003czb.2_Missense_Mutation_p.E448K NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 346 binding lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCAATGGTTTCACCGGCAGCG 0.607 NaN 0 0 0 0.009096 0 4 10 RBM15B 29890 broad.mit.edu 37 3 51429743 51429743 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:51429743G>A uc003dbd.2 + 1 1013 c.913G>A c.(913-915)GAC>AAC p.D305N NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 305 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCGGGCCCTGGACTACTACGG 0.428 NaN 0 0 0 0.010504 0 18 30 VPRBP 9730 broad.mit.edu 37 3 51458411 51458411 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:51458411G>A uc003dbe.1 - 14 2181 c.2013C>T c.(2011-2013)TTC>TTT p.F671F VPRBP_uc003dbf.1_5'UTR NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 671 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CATCATGGATGAAGAACTCAC 0.363 NaN 0 0 0 0.008361 0 24 95 APPL1 26060 broad.mit.edu 37 3 57282256 57282256 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:57282256T>C uc003dio.2 + 10 887 c.740T>C c.(739-741)ATG>ACG p.M247T APPL1_uc010hnb.2_Missense_Mutation_p.M247T|APPL1_uc011bey.1_Missense_Mutation_p.M230T NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 247 Required for RAB5A binding.|Potential. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) ATAGAGACCATGCAACAGACA 0.408 NaN 0 0 0 0.009535 0 25 88 PRICKLE2 166336 broad.mit.edu 37 3 64084988 64084988 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:64084988C>T uc003dmf.2 - 8 2860 c.2274G>A c.(2272-2274)CAG>CAA p.Q758Q NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 758 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CAAAGGCATTCTGCAAAGCCA 0.587 NaN 0 0 0 0.008291 0 10 41 LRIG1 26018 broad.mit.edu 37 3 66449393 66449393 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:66449393C>T uc003dmx.2 - 10 1246 c.1232_splice c.e10+1 p.L411_splice LRIG1_uc011bfu.1_Splice_Site_p.L31_splice|LRIG1_uc003dmw.2_Splice_Site_p.L77_splice|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Splice_Site_p.L435_splice NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GAGATACTCACAGGTGCTCCA 0.498 NaN 0 0 0 0.013537 0 9 25 C3orf64 285203 broad.mit.edu 37 3 69027546 69027546 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:69027546T>C uc003dnl.2 - 17 1780 c.1375A>G c.(1375-1377)AGG>GGG p.R459G C3orf64_uc003dnj.2_Missense_Mutation_p.R138G|C3orf64_uc003dnk.2_Missense_Mutation_p.R375G|C3orf64_uc011bfw.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 459 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) CCTCTCAGCCTGGCCAAGTCT 0.428 NaN 0 0 0 0.005443 0 24 100 PDZRN3 23024 broad.mit.edu 37 3 73432821 73432821 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:73432821C>T uc003dpl.1 - 10 2992 c.2896G>A c.(2896-2898)GAG>AAG p.E966K PDZRN3_uc011bgh.1_Missense_Mutation_p.E623K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E664K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E683K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E686K NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 966 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ATCTTCATCTCGCTCACCGCG 0.667 NaN 0 0 0 0.010818 0 27 138 ROBO1 6091 broad.mit.edu 37 3 78649289 78649289 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:78649289C>T uc003dqe.2 - 30 5123 c.4915G>A c.(4915-4917)GGA>AGA p.G1639R ROBO1_uc003dqb.2_Missense_Mutation_p.G1600R|ROBO1_uc003dqc.2_Missense_Mutation_p.G1539R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1594R|ROBO1_uc010hoh.2_Missense_Mutation_p.G831R NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1639 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTATCTTCTCCTCTTTCATAT 0.363 NaN 0 0 0 0.000602 0 3 17 CRYBG3 131544 broad.mit.edu 37 3 97618083 97618083 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:97618083C>T uc003drx.2 + 11 2167 c.2103C>T c.(2101-2103)ATC>ATT p.I701I NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 ATAATATAATCATGTCGATAC 0.363 NaN 0 0 0 0.01441 0 41 43 PVRL3 25945 broad.mit.edu 37 3 110830952 110830952 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:110830952T>C uc003dxt.1 + 2 236 c.236T>C c.(235-237)TTA>TCA p.L79S PVRL3_uc003dxu.1_Missense_Mutation_p.L56S NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 79 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 TTAAAGTGTTTAATTGAAGTA 0.388 NaN 0 0 0 0.010729 0 9 43 TMPRSS7 344805 broad.mit.edu 37 3 111794169 111794169 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:111794169C>G uc010hqb.2 + 13 1577 c.1407C>G c.(1405-1407)ACC>ACG p.T469T TMPRSS7_uc011bhr.1_Silent_p.T324T NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 595 Extracellular (Potential).|LDL-receptor class A 3. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 CCACCAAAGCCTGCAGCAGGA 0.532 NaN 0 0 0 0.013726 0 32 131 KALRN 8997 broad.mit.edu 37 3 124438234 124438234 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:124438234G>A uc003ehg.2 + 60 9005 c.8878G>A c.(8878-8880)GAA>AAA p.E2960K KALRN_uc003ehk.2_Missense_Mutation_p.E1263K NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2959 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ATGCTTCATAGAACGTCGCAA 0.562 NaN 0 0 0 0.003954 0 25 105 ALG1L 200810 broad.mit.edu 37 3 125652507 125652507 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:125652507G>A uc003eig.1 - 2 175 c.11C>T c.(10-12)TCG>TTG p.S4L NM_001015050 NP_001015050 Q6GMV1 ALG1L_HUMAN asparagine-linked glycosylation 1-like 4 transferase activity, transferring glycosyl groups 0 CATGAAGGCCGACCGCTCCAT 0.637 NaN 0 0 0 0.00245 0 13 46 RUVBL1 8607 broad.mit.edu 37 3 127842556 127842556 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:127842556C>G uc003ekh.2 - 1 116 c.12G>C c.(10-12)GAG>GAC p.E4D RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E4D NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 4 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) TCTTCACCTCCTCAATCTTCA 0.612 NaN 0 0 0 0.014323 0 17 62 CPNE4 131034 broad.mit.edu 37 3 131415421 131415421 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:131415421C>G uc003eok.2 - 5 907 c.472G>C c.(472-474)GAG>CAG p.E158Q CPNE4_uc011blq.1_Missense_Mutation_p.E176Q|CPNE4_uc003eol.2_Missense_Mutation_p.E176Q|CPNE4_uc003eom.2_Missense_Mutation_p.E158Q NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 158 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AATGCAAGCTCAACATAGTCG 0.408 NaN 0 0 0 0.01441 0 60 51 DNAJC13 23317 broad.mit.edu 37 3 132211337 132211337 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:132211337C>T uc003eor.2 + 33 3768 c.3703C>T c.(3703-3705)CAG>TAG p.Q1235* NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1235 heat shock protein binding ovary(1)|breast(1) 2 AGCACTTTATCAGTATTGCCC 0.403 NaN 0 0 0 0.01441 0 147 176 C3orf36 80111 broad.mit.edu 37 3 133647173 133647173 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:133647173C>G uc003epz.1 - 1 1484 c.475G>C c.(475-477)GGC>CGC p.G159R NM_025041 NP_079317 Q3SXR2 CC036_HUMAN hypothetical protein LOC80111 159 ovary(1) 1 CCCGCTCTGCCTTGAGACTGA 0.517 NaN 0 0 0 0.006122 0 16 83 SLC25A36 55186 broad.mit.edu 37 3 140675471 140675471 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:140675471G>A uc003etr.2 + 2 379 c.144G>A c.(142-144)CTG>CTA p.L48L SLC25A36_uc003etp.2_Silent_p.L48L|SLC25A36_uc003ets.2_Silent_p.L48L|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Silent_p.L48L NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 48 Helical; Name=2; (Potential).|Solcar 1. response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 AAGTTCAGCTGAACACCATGG 0.453 NaN 0 0 0 0.00333 0 22 133 PPM1L 151742 broad.mit.edu 37 3 160474178 160474178 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:160474178C>T uc003fdr.2 + 1 183 c.82C>T c.(82-84)CTG>TTG p.L28L NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 28 Helical; (Potential). protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GACGCTTTTCCTGCTGTGCAT 0.522 NaN 0 0 0 0.003163 0 15 89 WDR49 151790 broad.mit.edu 37 3 167277882 167277882 + Silent SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:167277882A>G uc003fev.1 - 5 927 c.621T>C c.(619-621)CTT>CTC p.L207L WDR49_uc003feu.1_Silent_p.L32L|WDR49_uc011bpd.1_Silent_p.L260L|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 207 WD 4. large_intestine(1)|ovary(1)|skin(1) 3 TGCCAGTCAAAAGCCGAGTCT 0.453 NaN 0 0 0 0.010818 0 25 150 SLC7A14 57709 broad.mit.edu 37 3 170198742 170198742 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:170198742G>A uc003fgz.2 - 7 1645 c.1329C>T c.(1327-1329)TTC>TTT p.F443F CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 443 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCTCAGACAAGAACTTGACAA 0.512 NaN 0 0 0 0.01441 0 49 55 CCDC39 339829 broad.mit.edu 37 3 180397147 180397147 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:180397147C>T uc010hxe.2 - 1 137 c.22G>A c.(22-24)GAG>AAG p.E8K CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 8 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CAGTGCAGCTCAGCCAGGAAT 0.557 NaN 0 0 0 0.01441 0 140 194 YEATS2 55689 broad.mit.edu 37 3 183432930 183432930 + Splice_Site SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:183432930A>T uc003fly.2 + 2 177 c.-18_splice c.e2-2 NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATTGCTTCACAGTGAAGAACT 0.358 NaN 0 0 0 0.007835 0 40 39 C3orf21 152002 broad.mit.edu 37 3 194790762 194790762 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr3:194790762G>A uc003fum.3 - 4 972 c.864C>T c.(862-864)TTC>TTT p.F288F C3orf21_uc003ful.2_Silent_p.F85F|C3orf21_uc003fuk.2_Silent_p.F82F NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 288 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) CCCCGCTGTTGAAGCCCGGCA 0.677 NaN 0 0 0 0.004878 0 28 131 GAK 2580 broad.mit.edu 37 4 875739 875739 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:875739G>A uc003gbm.3 - 15 1816 c.1617C>T c.(1615-1617)TTC>TTT p.F539F GAK_uc003gbn.3_Silent_p.F460F|GAK_uc010ibk.1_Silent_p.F433F|GAK_uc003gbl.3_Silent_p.F403F NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 539 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GCTTCATGCTGAACATGTACA 0.652 NaN 0 0 0 0.00499 0 14 10 GAK 2580 broad.mit.edu 37 4 875769 875769 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:875769G>C uc003gbm.3 - 15 1786 c.1587C>G c.(1585-1587)TTC>TTG p.F529L GAK_uc003gbn.3_Missense_Mutation_p.F450L|GAK_uc010ibk.1_Missense_Mutation_p.F423L|GAK_uc003gbl.3_Missense_Mutation_p.F393L NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 529 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CCGCGGTGCTGAAGAGACGGC 0.642 NaN 0 0 0 0.004007 0 12 8 KIAA1530 57654 broad.mit.edu 37 4 1377693 1377693 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:1377693C>T uc003gde.3 + 13 2448 c.2001C>T c.(1999-2001)ACC>ACT p.T667T KIAA1530_uc010ibv.2_Silent_p.T218T NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 667 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) AGGCTGATACCGCCCGCGCTC 0.642 NaN 0 0 0 0.004007 0 14 67 MFSD10 10227 broad.mit.edu 37 4 2935298 2935298 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:2935298G>A uc003gfw.2 - 2 578 c.264C>T c.(262-264)TTC>TTT p.F88F MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.F88F|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.F88F|MFSD10_uc003ggb.1_Silent_p.F88F|MFSD10_uc003ggc.2_Silent_p.F88F|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 88 Helical; (Potential). apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCATACCTCCGAACAGGACAC 0.632 NaN 0 0 0 0.004007 0 15 50 JAKMIP1 152789 broad.mit.edu 37 4 6107652 6107652 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:6107652G>A uc003giu.3 - 3 448 c.172C>T c.(172-174)CGC>TGC p.R58C JAKMIP1_uc010idb.1_Missense_Mutation_p.R58C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R58C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R58C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R58C NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 58 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCCTGCTCGCGCTCCAGCTTC 0.562 NaN 0 0 0 0.003755 0 26 45 SLAIN2 57606 broad.mit.edu 37 4 48422313 48422313 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:48422313C>T uc003gya.3 + 7 1676 c.1532C>T c.(1531-1533)TCA>TTA p.S511L NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 511 centrosome 0 AGCACAGTCTCAGCAAATCCT 0.522 NaN 0 0 0 0.01441 0 57 103 FRYL 285527 broad.mit.edu 37 4 48553580 48553580 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:48553580C>T uc003gyh.1 - 37 5056 c.4451G>A c.(4450-4452)AGC>AAC p.S1484N FRYL_uc003gyk.2_Missense_Mutation_p.S1484N|FRYL_uc003gyg.1_Missense_Mutation_p.S180N|FRYL_uc003gyi.1_Missense_Mutation_p.S373N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1484 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CATTGTATTGCTACTGGAAGT 0.358 NaN 0 0 0 0.008291 0 10 58 KIT 3815 broad.mit.edu 37 4 55524222 55524222 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:55524222T>G uc010igr.2 + 1 128 c.41T>G c.(40-42)CTG>CGG p.L14R KIT_uc010igs.2_Missense_Mutation_p.L14R NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 14 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCTGCGTTCTGCTCCTACTG 0.667 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 0 0 0 0.004656 0 24 31 PPAT 5471 broad.mit.edu 37 4 57266984 57266984 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:57266984G>C uc003hbr.2 - 8 1182 c.980C>G c.(979-981)TCT>TGT p.S327C NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 327 Magnesium (By similarity). glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) AGGCGTAGCAGATTCTGGAAC 0.458 NaN 0 0 0 0.004878 0 36 121 UGT2A1 10941 broad.mit.edu 37 4 70513304 70513304 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:70513304C>A uc003hem.3 - 1 122 c.59G>T c.(58-60)GGT>GTT p.G20V UGT2A1_uc011caq.1_Missense_Mutation_p.G20V|UGT2A1_uc010ihu.2_Missense_Mutation_p.G20V|UGT2A1_uc010iht.2_Missense_Mutation_p.G20V NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 20 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 AACATTCCCACCAAGAGTGGT 0.383 NaN 1 0 0.00448238 0.004482 0.00455262 7 12 CDKL2 8999 broad.mit.edu 37 4 76529105 76529105 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:76529105T>C uc003hiq.2 - 6 1216 c.691A>G c.(691-693)AAA>GAA p.K231E CDKL2_uc011cbp.1_Missense_Mutation_p.K231E|CDKL2_uc010iix.1_RNA NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 231 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ACAGGATTTTTATTAAAAAGC 0.388 NaN 0 0 0 0.010729 0 10 49 STBD1 8987 broad.mit.edu 37 4 77230498 77230498 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:77230498C>T uc003hka.2 + 2 668 c.422C>T c.(421-423)TCA>TTA p.S141L STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_5'UTR NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 141 Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) TCTGAAGTTTCAAGAAATGAA 0.428 NaN 0 0 0 0.00308 0 7 32 FRAS1 80144 broad.mit.edu 37 4 79295384 79295384 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:79295384C>T uc003hlb.2 + 25 3570 c.3130C>T c.(3130-3132)CAT>TAT p.H1044Y FRAS1_uc003hkw.2_Missense_Mutation_p.H1044Y NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1043 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTTTGCAGATCATGCAAAGCA 0.507 NaN 0 0 0 0.00623 0 28 111 SEC31A 22872 broad.mit.edu 37 4 83740266 83740266 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:83740266G>C uc003hnf.2 - 27 3788 c.3624C>G c.(3622-3624)CTC>CTG p.L1208L SEC31A_uc003hnd.2_Silent_p.L377L|SEC31A_uc003hne.2_Silent_p.L957L|SEC31A_uc011ccl.1_Silent_p.L1154L|SEC31A_uc003hnl.2_Silent_p.L1055L|SEC31A_uc003hng.2_Silent_p.L1193L|SEC31A_uc003hnh.2_Silent_p.L1208L|SEC31A_uc003hni.2_Silent_p.L1094L|SEC31A_uc003hnj.2_Silent_p.L1169L|SEC31A_uc011ccm.1_Silent_p.L1188L|SEC31A_uc011ccn.1_Silent_p.L1193L|SEC31A_uc003hnk.2_Silent_p.L1169L|SEC31A_uc003hnm.2_Silent_p.L1208L NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1208 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GAACAACTTTGAGAACTGGCA 0.418 NaN 0 0 0 0.006122 0 17 30 COL25A1 84570 broad.mit.edu 37 4 109790268 109790268 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:109790268G>A uc003hze.1 - 19 1590 c.1059C>T c.(1057-1059)GGC>GGT p.G353G COL25A1_uc003hzg.2_Silent_p.G353G|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.G134G NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 353 Extracellular (Potential).|Collagen-like 4. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AACCTGGTAAGCCTGGTTCTC 0.244 NaN 0 0 0 0.001984 0 6 33 TIFA 92610 broad.mit.edu 37 4 113199085 113199085 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:113199085T>C uc003ial.2 - 2 770 c.488A>G c.(487-489)TAT>TGT p.Y163C NM_052864 NP_443096 Q96CG3 TIFA_HUMAN TRAF-interacting protein with a 163 protein binding breast(1) 1 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) ATAAGTGCCATACTCCGGTAT 0.428 NaN 0 0 0 0.004482 0 9 28 ANK2 287 broad.mit.edu 37 4 114158209 114158209 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:114158209G>C uc003ibe.3 + 6 650 c.550G>C c.(550-552)GAG>CAG p.E184Q ANK2_uc003ibd.3_Missense_Mutation_p.E163Q|ANK2_uc003ibf.3_Missense_Mutation_p.E184Q|ANK2_uc003ibc.2_Missense_Mutation_p.E160Q|ANK2_uc011cgb.1_Missense_Mutation_p.E199Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 184 ANK 5. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATCCTCTTGGAGAATGACAC 0.498 NaN 0 0 0 0.01441 0 44 176 FAT4 79633 broad.mit.edu 37 4 126412206 126412206 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:126412206C>A uc003ifj.3 + 17 14229 c.14229C>A c.(14227-14229)TTC>TTA p.F4743L FAT4_uc011cgp.1_Missense_Mutation_p.F2984L|FAT4_uc003ifi.1_Missense_Mutation_p.F2220L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4743 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGGCATTTTCAACTATGCCA 0.498 NaN 1 0 3.27435e-08 0.00245 3.39827e-08 13 69 PLK4 10733 broad.mit.edu 37 4 128804637 128804637 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:128804637T>C uc003ifo.2 + 4 511 c.266T>C c.(265-267)TTA>TCA p.L89S PLK4_uc011cgs.1_Missense_Mutation_p.L57S|PLK4_uc011cgt.1_Missense_Mutation_p.L48S NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 89 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TATCTGGTATTAGAAATGTGC 0.308 NaN 0 0 0 0.014323 0 18 27 ARFIP1 27236 broad.mit.edu 37 4 153831239 153831239 + Silent SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:153831239G>T uc003imz.2 + 9 1266 c.990G>T c.(988-990)CTG>CTT p.L330L ARFIP1_uc003inb.2_Silent_p.L298L|ARFIP1_uc003ina.2_Silent_p.L298L|ARFIP1_uc003inc.2_Silent_p.L330L|ARFIP1_uc011cij.1_Silent_p.L150L NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 330 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) ACAATCAGCTGGTCCTTTTCC 0.403 NaN 1 0 1.4051e-37 0.01441 1.53186e-37 68 104 KIAA0922 23240 broad.mit.edu 37 4 154506049 154506049 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:154506049C>T uc003inm.3 + 12 1172 c.1120C>T c.(1120-1122)CTA>TTA p.L374L KIAA0922_uc010ipp.2_Silent_p.L375L|KIAA0922_uc010ipq.2_Silent_p.L227L|KIAA0922_uc010ips.1_5'UTR NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 374 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CACTCCAACACTAAAAGCATG 0.393 NaN 0 0 0 0.010818 0 25 43 RNF175 285533 broad.mit.edu 37 4 154669807 154669807 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:154669807C>G uc003int.2 - 3 609 c.236G>C c.(235-237)CGA>CCA p.R79P RNF175_uc003inu.1_Missense_Mutation_p.D3H NM_173662 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 79 integral to membrane zinc ion binding ovary(1)|pancreas(1) 2 all_hematologic(180;0.093) Renal(120;0.118) ATTGTAGGATCGGCCATGCCT 0.532 NaN 0 0 0 0.000602 0 4 16 DCHS2 54798 broad.mit.edu 37 4 155158295 155158295 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:155158295G>C uc003inw.2 - 25 6144 c.6144C>G c.(6142-6144)ATC>ATG p.I2048M NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2048 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATACGGGACTGATAGTAAATA 0.383 NaN 0 0 0 0.00499 0 14 17 FGG 2266 broad.mit.edu 37 4 155533181 155533181 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:155533181G>A uc003ioj.2 - 3 437 c.296C>T c.(295-297)TCA>TTA p.S99L FGG_uc003iog.2_Missense_Mutation_p.S99L|FGG_uc003ioh.2_Missense_Mutation_p.S99L|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.S99L NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 99 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGGTTTTGATGATTCATCAGG 0.308 NaN 0 0 0 0.000602 0 4 21 GUCY1B3 2983 broad.mit.edu 37 4 156723650 156723650 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:156723650G>A uc003ipc.2 + 10 1499 c.1332G>A c.(1330-1332)ATG>ATA p.M444I GUCY1B3_uc011cio.1_Missense_Mutation_p.M466I|GUCY1B3_uc011cip.1_Missense_Mutation_p.M424I|GUCY1B3_uc003ipd.2_Missense_Mutation_p.M372I|GUCY1B3_uc010iqf.2_Missense_Mutation_p.M411I|GUCY1B3_uc010iqg.2_Missense_Mutation_p.M415I|GUCY1B3_uc011ciq.1_Missense_Mutation_p.M372I NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 444 Guanylate cyclase. 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) AAGGAGCCATGAAGATCGTCA 0.453 NaN 0 0 0 0.004672 0 3 25 DDX60L 91351 broad.mit.edu 37 4 169374324 169374324 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:169374324C>G uc003irq.3 - 8 1168 c.947G>C c.(946-948)CGA>CCA p.R316P DDX60L_uc003irr.1_Missense_Mutation_p.R316P|DDX60L_uc003irs.1_Missense_Mutation_p.R43P NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 316 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TGTGATGACTCGAGAACAAGC 0.408 NaN 0 0 0 0.006999 0 35 39 C4orf41 60684 broad.mit.edu 37 4 184607795 184607795 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:184607795C>T uc003ivx.2 + 18 1963 c.1787C>T c.(1786-1788)GCC>GTC p.A596V C4orf41_uc003ivw.2_Missense_Mutation_p.A596V|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Missense_Mutation_p.A202V NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 596 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) AAGTTTCATGCCCCAAGTTTT 0.413 NaN 0 0 0 0.01441 0 75 151 F11 2160 broad.mit.edu 37 4 187206844 187206844 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:187206844G>C uc003iza.1 + 12 1690 c.1357G>C c.(1357-1359)GAA>CAA p.E453Q NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 453 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AAATCAATCTGAAATAAAAGA 0.348 NaN 0 0 0 0.001855 0 10 44 ZFP42 132625 broad.mit.edu 37 4 188924151 188924151 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr4:188924151G>C uc003izg.1 + 3 435 c.190G>C c.(190-192)GGA>CGA p.G64R ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 64 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCAGGCTCTCGGAGGGGATGA 0.507 NaN 0 0 0 0.00308 0 6 47 LRRC14B 389257 broad.mit.edu 37 5 195402 195402 + Silent SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:195402T>G uc003jal.1 + 2 1507 c.1479T>G c.(1477-1479)GCT>GCG p.A493A NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 493 skin(1) 1 AGCTTGGTGCTTTCTTGCTGC 0.483 NaN 0 0 0 0.001855 0 14 123 KIAA0947 23379 broad.mit.edu 37 5 5464730 5464730 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:5464730C>T uc003jdm.3 + 13 5505 c.5283C>T c.(5281-5283)GCC>GCT p.A1761A NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1761 ovary(1)|central_nervous_system(1) 2 AGTTATCTGCCAGGGCCCGGA 0.547 NaN 0 0 0 0.006122 0 16 20 TARS 6897 broad.mit.edu 37 5 33459811 33459811 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:33459811G>A uc003jhy.2 + 11 1390 c.1095G>A c.(1093-1095)AGG>AGA p.R365R TARS_uc011cob.1_Silent_p.R353R|TARS_uc010iup.1_Silent_p.R306R|TARS_uc011coc.1_Silent_p.R386R|TARS_uc003jhz.2_Silent_p.R261R|TARS_uc011cod.1_Silent_p.R244R NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 365 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) GCGAATATAGGAAAAGAGGAT 0.398 NaN 0 0 0 0.01441 0 69 57 NUP155 9631 broad.mit.edu 37 5 37324164 37324164 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:37324164C>G uc003jku.1 - 20 2255 c.2137G>C c.(2137-2139)GAA>CAA p.E713Q NUP155_uc003jkt.1_Missense_Mutation_p.E654Q|NUP155_uc010iuz.1_Missense_Mutation_p.E713Q NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 713 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTTTAGTTCTTGTAGCACT 0.358 NaN 0 0 0 0.01441 0 54 59 EGFLAM 133584 broad.mit.edu 37 5 38418241 38418241 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:38418241G>C uc003jlc.1 + 12 1892 c.1568G>C c.(1567-1569)AGA>ACA p.R523T EGFLAM_uc003jlb.1_Missense_Mutation_p.R523T|EGFLAM_uc003jle.1_Missense_Mutation_p.R289T|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 523 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TGGTTGGTTAGAGCAACAGGG 0.512 NaN 0 0 0 0.005443 0 26 172 OSMR 9180 broad.mit.edu 37 5 38869153 38869153 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:38869153C>G uc003jln.1 + 2 374 c.7C>G c.(7-9)CTA>GTA p.L3V OSMR_uc003jlm.1_Missense_Mutation_p.L3V NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 3 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) ACTGATGGCTCTATTTGCAGT 0.318 NaN 0 0 0 0.01441 0 67 57 HCN1 348980 broad.mit.edu 37 5 45353208 45353208 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:45353208C>G uc003jok.2 - 5 1396 c.1371G>C c.(1369-1371)CTG>CTC p.L457L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 457 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTACCTCTCTCAGAGGATCAT 0.343 NaN 0 0 0 0.004482 0 7 71 IPO11 51194 broad.mit.edu 37 5 61733234 61733234 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:61733234C>T uc003jtc.2 + 2 318 c.128C>T c.(127-129)TCA>TTA p.S43L IPO11_uc011cqr.1_Missense_Mutation_p.S83L|IPO11_uc003jtb.1_Missense_Mutation_p.S43L NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 43 Importin N-terminal. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GGTTTCTATTCAGTGTTGCTG 0.378 NaN 0 0 0 0.010504 0 19 25 POLK 51426 broad.mit.edu 37 5 74892219 74892219 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:74892219C>G uc003kdw.2 + 13 1797 c.1701C>G c.(1699-1701)TTC>TTG p.F567L POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.F369L|POLK_uc003kec.2_Missense_Mutation_p.F477L|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.F477L NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 567 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AGAAGAGTTTCTTTGATAAAA 0.373 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.001855 0 13 11 PAPD4 167153 broad.mit.edu 37 5 78915520 78915520 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:78915520C>T uc010jae.1 + 3 467 c.49C>T c.(49-51)CAA>TAA p.Q17* PAPD4_uc003kgb.2_Nonsense_Mutation_p.Q17*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.Q17*|PAPD4_uc003kga.2_Nonsense_Mutation_p.Q17*|PAPD4_uc003kfz.2_Nonsense_Mutation_p.Q17* NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 17 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TCCAAATCATCAACAACATAA 0.393 NaN 0 0 0 0.003954 0 20 28 MTX3 345778 broad.mit.edu 37 5 79279583 79279583 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:79279583G>A uc010jag.2 - 9 890 c.863C>T c.(862-864)CCT>CTT p.P288L MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P227L NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 288 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) TTTCCGAGGAGGAAGCTGAGG 0.468 NaN 0 0 0 0.00874 0 32 51 MTX3 345778 broad.mit.edu 37 5 79279590 79279590 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:79279590G>A uc010jag.2 - 9 883 c.856C>T c.(856-858)CAG>TAG p.Q286* MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Nonsense_Mutation_p.Q225* NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 286 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) GGAGGAAGCTGAGGGCTTTGG 0.468 NaN 0 0 0 0.01441 0 34 50 FAM81B 153643 broad.mit.edu 37 5 94772582 94772582 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:94772582C>T uc003kla.1 + 7 911 c.865C>T c.(865-867)CGC>TGC p.R289C FAM81B_uc010jbe.1_Missense_Mutation_p.R85C NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 289 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GGGGGATTATCGCCACGAAAT 0.398 NaN 0 0 0 0.004007 0 13 39 FBN2 2201 broad.mit.edu 37 5 127622542 127622542 + Splice_Site SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:127622542C>G uc003kuu.2 - 55 7320 c.6881_splice c.e55-1 p.D2294_splice NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATCCAGATCTAGAACaaaa 0.378 NaN 0 0 0 0.001855 0 12 23 RAPGEF6 51735 broad.mit.edu 37 5 130840372 130840372 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:130840372C>T uc003kvn.1 - 11 1407 c.1201G>A c.(1201-1203)GAG>AAG p.E401K RAPGEF6_uc003kvp.1_Missense_Mutation_p.E451K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E401K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E118K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E401K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E401K NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 401 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCCCGATGCTCATGTACCATA 0.383 NaN 0 0 0 0.01441 0 41 45 SLC4A9 83697 broad.mit.edu 37 5 139741424 139741424 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:139741424T>A uc003lfm.2 + 4 644 c.609T>A c.(607-609)AAT>AAA p.N203K SLC4A9_uc003lfj.2_Missense_Mutation_p.N179K|SLC4A9_uc011czg.1_Missense_Mutation_p.N179K|SLC4A9_uc003lfl.2_Missense_Mutation_p.N179K|SLC4A9_uc003lfk.2_Missense_Mutation_p.N179K NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 203 Cytoplasmic (Potential). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTGACAATGAGGAAGCCC 0.353 NaN 0 0 0 0.01441 0 61 49 PCDHGA4 56111 broad.mit.edu 37 5 140734781 140734781 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:140734781C>G uc003ljq.1 + 1 14 c.14C>G c.(13-15)CCT>CGT p.P5R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.P5R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 5 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGCGCCTCCTGCTCGCCCA 0.602 NaN 0 0 0 0.00278 0 22 28 ARAP3 64411 broad.mit.edu 37 5 141033813 141033813 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr5:141033813G>A uc003llm.2 - 33 4417 c.4339C>T c.(4339-4341)CAA>TAA p.Q1447* ARAP3_uc003lll.2_Nonsense_Mutation_p.Q398*|ARAP3_uc011dbe.1_Nonsense_Mutation_p.Q1096*|ARAP3_uc003lln.2_Nonsense_Mutation_p.Q1278* NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1447 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 AGAAAGGGTTGATCCAATGAC 0.602 NaN 0 0 0 0.005524 0 36 44 FOXC1 2296 broad.mit.edu 37 6 1612341 1612341 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:1612341G>A uc003mtp.2 + 1 1661 c.1661G>A c.(1660-1662)TGA>TAA p.*554* NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 554 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) AGCAAGTTTTGACACACCCTC 0.448 NaN 0 0 0 0.012319 0 18 86 SERPINB9 5272 broad.mit.edu 37 6 2900817 2900817 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:2900817G>T uc003mug.2 - 2 150 c.29C>A c.(28-30)ACT>AAT p.T10N uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.T10N NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 10 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) TATGGCAAAAGTACCACTTGC 0.458 NaN 1 0 8.06247e-56 0.01441 8.83032e-56 128 234 RREB1 6239 broad.mit.edu 37 6 7247274 7247274 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:7247274G>A uc003mxc.2 + 11 4816 c.4426G>A c.(4426-4428)GAC>AAC p.D1476N RREB1_uc003mxb.2_Missense_Mutation_p.D1531N|RREB1_uc010jnx.2_Intron NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1476 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGGCCCCTCCGACGGGGAGAG 0.672 NaN 0 0 0 0.004672 0 3 25 PAK1IP1 55003 broad.mit.edu 37 6 10697685 10697685 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:10697685G>A uc003mzg.2 + 2 244 c.213G>A c.(211-213)AAG>AAA p.K71K C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank NM_017906 NP_060376 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 71 WD 1. negative regulation of signal transduction nucleolus|plasma membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) ACATGAAAAAGAAGATTGAGC 0.393 NaN 0 0 0 0.004482 0 7 106 KIF13A 63971 broad.mit.edu 37 6 17809073 17809073 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:17809073C>T uc003ncg.3 - 18 2194 c.2089G>A c.(2089-2091)GAG>AAG p.E697K KIF13A_uc003ncf.2_Missense_Mutation_p.E697K|KIF13A_uc003nch.3_Missense_Mutation_p.E697K|KIF13A_uc003nci.3_Missense_Mutation_p.E697K NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 697 Potential. 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) CTCATTTCCTCAGCCAGGAAG 0.488 NaN 0 0 0 0.004656 0 23 35 PRSS16 10279 broad.mit.edu 37 6 27222869 27222869 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:27222869G>A uc003nja.2 + 11 1447 c.1435G>A c.(1435-1437)GAG>AAG p.E479K PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.E222K|PRSS16_uc003njd.2_RNA NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 479 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 CATGGCACCTGAGAGGCCCTC 0.507 NaN 0 0 0 0.01441 0 126 145 C6orf27 80737 broad.mit.edu 37 6 31737803 31737803 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:31737803G>A uc011dog.1 - 8 1413 c.1175C>T c.(1174-1176)CCT>CTT p.P392L C6orf27_uc003nxd.2_Missense_Mutation_p.P67L|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 392 extracellular region ovary(3) 3 GCACATCTCAGGCTCGTCTCC 0.622 NaN 0 0 0 0.004289 0 32 80 ATF6B 1388 broad.mit.edu 37 6 32086844 32086844 + Missense_Mutation SNP T T G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:32086844T>G uc003nzn.2 - 10 1074 c.1041A>C c.(1039-1041)AAA>AAC p.K347N TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.K344N|ATF6B_uc003nzp.1_Missense_Mutation_p.K36N NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 347 Cytoplasmic (Potential).|Basic motif. response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCAGATACTCTTTCTTCTTTC 0.607 NaN 0 0 0 0.010818 0 24 34 NOTCH4 4855 broad.mit.edu 37 6 32166323 32166323 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:32166323C>T uc003obb.2 - 26 4770 c.4631G>A c.(4630-4632)GGC>GAC p.G1544D NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.G204D|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1544 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GGAGGGTGGGCCTGTTTCTTC 0.572 NaN 0 0 0 0.007413 0 15 43 SYNGAP1 8831 broad.mit.edu 37 6 33400506 33400506 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:33400506G>A uc011dri.1 + 5 627 c.432G>A c.(430-432)ACG>ACA p.T144T SYNGAP1_uc003oeo.1_Silent_p.T129T|SYNGAP1_uc010juy.2_Silent_p.T129T NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 144 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 TCAAACGAACGAAGTCACAAC 0.582 NaN 0 0 0 0.004656 0 24 61 DEF6 50619 broad.mit.edu 37 6 35288972 35288972 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:35288972C>T uc003okk.2 + 11 1720 c.1681C>T c.(1681-1683)CCG>TCG p.P561S DEF6_uc010jvs.2_Missense_Mutation_p.P536S|DEF6_uc010jvt.2_Missense_Mutation_p.P306S NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 561 cytoplasm|nucleus|plasma membrane 0 AGATAAGCGTCCGGTCACCAG 0.627 NaN 0 0 0 0.01441 0 189 298 TULP1 7287 broad.mit.edu 37 6 35478696 35478696 + Silent SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:35478696C>G uc003okv.3 - 5 453 c.441G>C c.(439-441)CTG>CTC p.L147L TULP1_uc003okw.3_Silent_p.L94L NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 147 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 TCTTCTCTCTCAGGGGCTTCT 0.413 NaN 0 0 0 0.013114 0 41 104 STK38 11329 broad.mit.edu 37 6 36489566 36489566 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:36489566C>G uc003omg.2 - 4 923 c.335G>C c.(334-336)GGA>GCA p.G112A STK38_uc003omh.2_Missense_Mutation_p.G112A|STK38_uc003omi.2_Missense_Mutation_p.G112A NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 112 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 ATACACATGTCCCGTATCTTT 0.358 NaN 0 0 0 0.010818 0 31 102 C6orf89 221477 broad.mit.edu 37 6 36887410 36887410 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:36887410C>T uc003omx.2 + 8 1166 c.882C>T c.(880-882)CTC>CTT p.L294L C6orf89_uc003omv.2_Silent_p.L188L|C6orf89_uc003omw.2_Silent_p.L301L|C6orf89_uc011dtr.1_Silent_p.L188L|C6orf89_uc003omy.2_Silent_p.L128L NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 294 integral to membrane ovary(1) 1 TGTTGCAGCTCATCCCTCCCT 0.532 NaN 0 0 0 0.01441 0 72 79 KIF6 221458 broad.mit.edu 37 6 39313505 39313505 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:39313505C>G uc003oot.2 - 21 2387 c.2292G>C c.(2290-2292)CAG>CAC p.Q764H KIF6_uc003oos.2_Missense_Mutation_p.Q215H|KIF6_uc010jwz.1_Missense_Mutation_p.Q139H|KIF6_uc010jxa.1_Missense_Mutation_p.Q538H|KIF6_uc011dua.1_Missense_Mutation_p.Q747H|KIF6_uc010jxb.1_Missense_Mutation_p.Q708H NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 764 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TGGTGCTGCTCTGTTTCTGGC 0.557 NaN 0 0 0 0.012213 0 27 37 DAAM2 23500 broad.mit.edu 37 6 39846247 39846247 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:39846247G>A uc003oow.2 + 13 1584 c.1428G>A c.(1426-1428)AAG>AAA p.K476K DAAM2_uc010jxc.2_Silent_p.K476K|DAAM2_uc003oox.2_Silent_p.K476K NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 476 Potential. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CATTGGAGAAGGAAGAGATGA 0.587 NaN 0 0 0 0.010729 0 10 13 NFYA 4800 broad.mit.edu 37 6 41057404 41057404 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:41057404C>T uc003opo.2 + 5 574 c.396C>T c.(394-396)ATC>ATT p.I132I NFYA_uc003opp.2_Silent_p.I103I|NFYA_uc003opq.2_Silent_p.I103I NM_002505 NP_002496 P23511 NFYA_HUMAN nuclear transcription factor Y, alpha isoform 1 132 Gln-rich. transcription from RNA polymerase II promoter CCAAT-binding factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCAGCAGATCATCATCCAGC 0.552 NaN 0 0 0 0.01441 0 54 75 TMEM63B 55362 broad.mit.edu 37 6 44119725 44119725 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:44119725G>A uc003owr.2 + 19 1880 c.1816G>A c.(1816-1818)GAG>AAG p.E606K TMEM63B_uc003ows.2_Missense_Mutation_p.E509K|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 606 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCGGCCGCCGAGAGGCGCAA 0.677 NaN OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 9 15 TDRD6 221400 broad.mit.edu 37 6 46660819 46660819 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46660819G>C uc003oyj.2 + 1 4954 c.4954G>C c.(4954-4956)GAC>CAC p.D1652H TDRD6_uc010jze.2_Missense_Mutation_p.D1646H NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1652 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AGAGGGAAATGACTATTTCTA 0.378 NaN 0 0 0 0.006122 0 17 69 PLA2G7 7941 broad.mit.edu 37 6 46678299 46678299 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46678299C>T uc010jzf.2 - 8 1029 c.760G>A c.(760-762)GAT>AAT p.D254N PLA2G7_uc010jzg.1_Missense_Mutation_p.D254N|PLA2G7_uc011dwd.1_Missense_Mutation_p.D209N|PLA2G7_uc011dwe.1_Missense_Mutation_p.D127N NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 254 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) TGTTCCATATCAAACTTTAAA 0.333 NaN 0 0 0 0.01441 0 43 37 MEP1A 4224 broad.mit.edu 37 6 46766860 46766860 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:46766860G>A uc010jzh.1 + 5 246 c.204G>A c.(202-204)CTG>CTA p.L68L MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.L96L|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 68 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GAAATGGCCTGAGAGACCCAA 0.428 NaN 0 0 0 0.01441 0 37 112 CD2AP 23607 broad.mit.edu 37 6 47577018 47577018 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:47577018G>C uc003oyw.2 + 16 2248 c.1792G>C c.(1792-1794)GAA>CAA p.E598Q NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 598 Potential. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GTGCATTGTAGAAGCACTGAA 0.353 NaN 0 0 0 0.009096 0 3 150 EFHC1 114327 broad.mit.edu 37 6 52344529 52344529 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:52344529C>T uc003pap.3 + 9 1799 c.1584C>T c.(1582-1584)CTC>CTT p.L528L EFHC1_uc011dwv.1_Silent_p.L437L|EFHC1_uc011dww.1_Silent_p.L509L NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 528 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) CAGAAGCACTCGCGTCAATTC 0.478 NaN 0 0 0 0.006999 0 39 59 C6orf142 90523 broad.mit.edu 37 6 53883760 53883760 + Translation_Start_Site SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:53883760C>G uc003pcg.3 + 1 47 c.-66C>G c.(-68--64)ATCAT>ATGAT C6orf142_uc003pcf.2_Translation_Start_Site NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CACGTCGAATCATTTTCTAGA 0.398 NaN 0 0 0 0.000602 0 5 11 DST 667 broad.mit.edu 37 6 56497803 56497803 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:56497803T>A uc003pdf.2 - 27 3583 c.3555A>T c.(3553-3555)CAA>CAT p.Q1185H DST_uc003pcz.3_Missense_Mutation_p.Q1007H|DST_uc011dxj.1_Missense_Mutation_p.Q1036H|DST_uc011dxk.1_Missense_Mutation_p.Q1047H|DST_uc003pcy.3_Missense_Mutation_p.Q681H|DST_uc003pdb.2_Missense_Mutation_p.Q681H|DST_uc003pdc.3_Missense_Mutation_p.Q681H|DST_uc003pdd.3_Missense_Mutation_p.Q681H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1007 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TACTTAGAACTTGCTGATGTT 0.373 NaN 0 0 0 0.003271 0 31 43 ZNF451 26036 broad.mit.edu 37 6 57015563 57015563 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:57015563G>A uc003pdm.1 + 11 2879 c.2655G>A c.(2653-2655)ATG>ATA p.M885I ZNF451_uc003pdl.2_Missense_Mutation_p.M885I|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.M885I NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGCGAACCATGACTCATATAG 0.363 NaN 0 0 0 0.012213 0 29 78 COL12A1 1303 broad.mit.edu 37 6 75799843 75799843 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:75799843C>T uc003phs.2 - 63 9090 c.8924G>A c.(8923-8925)GGA>GAA p.G2975E COL12A1_uc003pht.2_Missense_Mutation_p.G1811E NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2975 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CCCAGGGGGTCCCTGCATCCC 0.617 NaN 0 0 0 0.01441 0 65 115 SNX14 57231 broad.mit.edu 37 6 86223790 86223790 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:86223790C>G uc003pkr.2 - 25 2748 c.2555G>C c.(2554-2556)AGA>ACA p.R852T SNX14_uc003pkp.2_Missense_Mutation_p.R715T|SNX14_uc003pkq.2_Missense_Mutation_p.R458T|SNX14_uc011dzg.1_Missense_Mutation_p.R800T|SNX14_uc003pks.2_Missense_Mutation_p.R799T|SNX14_uc003pkt.2_Missense_Mutation_p.R843T NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 852 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ATACAAACCTCTGAGAAGTGT 0.318 NaN 0 0 0 0.006999 0 34 36 BACH2 60468 broad.mit.edu 37 6 90647877 90647877 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:90647877C>T uc011eab.1 - 8 2838 c.2029G>A c.(2029-2031)GAA>AAA p.E677K BACH2_uc003pnw.2_Missense_Mutation_p.E677K NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 677 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TTGCGGATTTCACATTCTAAA 0.458 NaN 0 0 0 0.010818 0 24 116 COQ3 51805 broad.mit.edu 37 6 99823966 99823966 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:99823966G>A uc003ppk.2 - 5 606 c.579C>T c.(577-579)GTC>GTT p.V193V NM_017421 NP_059117 Q9NZJ6 COQ3_HUMAN hexaprenyldihydroxybenzoate methyltransferase 193 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity upper_aerodigestive_tract(1) 1 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TCTTATCCAGGACTGGATCAA 0.443 NaN 0 0 0 0.005524 0 32 134 SEC63 11231 broad.mit.edu 37 6 108202384 108202384 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:108202384G>T uc003psc.3 - 18 2173 c.1904C>A c.(1903-1905)ACA>AAA p.T635K SEC63_uc003psb.3_Missense_Mutation_p.T495K NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 635 Potential.|Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CACAGGATGTGTTATTTTTGA 0.348 NaN 1 0 8.88839e-20 0.010818 9.52996e-20 28 46 TRAF3IP2 10758 broad.mit.edu 37 6 111913199 111913199 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:111913199C>T uc011ebc.1 - 3 706 c.91G>A c.(91-93)GAA>AAA p.E31K TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E31K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E31K NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 40 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GGTTCTGATTCCTCTTCCGGG 0.463 NaN 0 0 0 0.00245 0 12 66 MAP3K5 4217 broad.mit.edu 37 6 137018501 137018501 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:137018501G>C uc003qhc.2 - 5 1192 c.831C>G c.(829-831)CTC>CTG p.L277L MAP3K5_uc011edk.1_Silent_p.L122L|MAP3K5_uc010kgw.1_Silent_p.L277L NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 277 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGATGTCATTGAGTATAGATT 0.358 NaN 0 0 0 0.007413 0 15 100 TAB2 23118 broad.mit.edu 37 6 149699347 149699347 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:149699347G>T uc003qmj.2 + 3 474 c.296G>T c.(295-297)GGA>GTA p.G99V TAB2_uc011eec.1_Missense_Mutation_p.G67V|TAB2_uc010kia.1_Missense_Mutation_p.G99V|TAB2_uc010kib.1_Missense_Mutation_p.G99V|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 99 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 AGGATGAATGGAAGTAGGACT 0.453 NaN 1 0 0.000274275 0.004482 0.000279768 7 67 LATS1 9113 broad.mit.edu 37 6 150023160 150023160 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:150023160G>A uc003qmu.1 - 2 651 c.103C>T c.(103-105)CGG>TGG p.R35W LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.R35W|LATS1_uc003qmw.2_Missense_Mutation_p.R35W|LATS1_uc010kig.1_5'UTR NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 35 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGGGATTCCCGAATTTCTTGT 0.423 NaN 0 0 0 0.006122 0 16 79 AKAP12 9590 broad.mit.edu 37 6 151674198 151674198 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:151674198G>A uc011eep.1 + 4 4912 c.4672G>A c.(4672-4674)GTT>ATT p.V1558I AKAP12_uc003qoe.2_Missense_Mutation_p.V1558I|AKAP12_uc003qof.2_Missense_Mutation_p.V1460I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V1453I NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1558 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCAGACAGCCGTTGACCAGTT 0.448 NaN 0 0 0 0.003271 0 28 91 SYNE1 23345 broad.mit.edu 37 6 152640037 152640037 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:152640037C>T uc010kiw.2 - 85 16952 c.16350G>A c.(16348-16350)GCG>GCA p.A5450A SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Silent_p.A5379A|SYNE1_uc003qou.3_Silent_p.A5450A|SYNE1_uc010kiz.2_Silent_p.A1205A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5450 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATCTGTCTTCGCTTTCAGCT 0.378 NaN HNSCC(10;0.0054) 0 0 0 0.004482 0 7 38 TIAM2 26230 broad.mit.edu 37 6 155451298 155451298 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr6:155451298C>T uc003qqb.2 + 6 2214 c.941C>T c.(940-942)TCA>TTA p.S314L TIAM2_uc003qqe.2_Missense_Mutation_p.S314L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 314 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTCTCCCCCTCAGGTATCCGC 0.557 NaN 0 0 0 0.00333 0 21 30 SNX8 29886 broad.mit.edu 37 7 2311494 2311494 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:2311494G>A uc003slw.2 - 4 574 c.531C>T c.(529-531)TTC>TTT p.F177F NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 177 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CCGAGCCGCTGAAGGACAGGA 0.637 NaN 0 0 0 0.000602 0 5 10 SDK1 221935 broad.mit.edu 37 7 4189070 4189070 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:4189070G>A uc003smx.2 + 30 4739 c.4600G>A c.(4600-4602)GAG>AAG p.E1534K SDK1_uc010kso.2_Missense_Mutation_p.E810K|SDK1_uc003smy.2_Missense_Mutation_p.E21K NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1534 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CATCAGCCATGAGGCGACAGC 0.667 NaN 0 0 0 0.013537 0 8 10 CCDC129 223075 broad.mit.edu 37 7 31682389 31682389 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:31682389C>T uc003tcj.1 + 11 2398 c.1405C>T c.(1405-1407)CAG>TAG p.Q469* CCDC129_uc011kad.1_Nonsense_Mutation_p.Q479*|CCDC129_uc003tci.1_Nonsense_Mutation_p.Q320*|CCDC129_uc011kae.1_Nonsense_Mutation_p.Q495*|CCDC129_uc003tck.1_Nonsense_Mutation_p.Q377* NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 469 0 CCAGGACTGTCAGCTAGAGTC 0.502 NaN 0 0 0 0.013537 0 11 107 MRPS24 64951 broad.mit.edu 37 7 43908565 43908565 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:43908565T>C uc003tit.1 - 3 268 c.217A>G c.(217-219)ACA>GCA p.T73A NM_032014 NP_114403 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 precursor 73 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CGCTCACCTGTGTGCAGCGAC 0.458 NaN 0 0 0 0.01441 0 52 71 PKD1L1 168507 broad.mit.edu 37 7 47886526 47886526 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:47886526C>T uc003tny.1 - 32 5104 c.5104G>A c.(5104-5106)GAA>AAA p.E1702K NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1702 Extracellular (Potential).|GPS. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GAGAAACGTTCAGATTTCCAC 0.408 NaN 0 0 0 0.005524 0 31 79 VWC2 375567 broad.mit.edu 37 7 49815164 49815164 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:49815164C>G uc003tot.1 + 2 689 c.133C>G c.(133-135)CAG>GAG p.Q45E NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 45 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 GCAGCCGGGCCAGGAGAAGCG 0.716 NaN 0 0 0 0.006214 0 9 6 MRPS17 51373 broad.mit.edu 37 7 56022758 56022758 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:56022758C>T uc003trd.2 + 3 310 c.280C>T c.(280-282)CCA>TCA p.P94S MRPS17_uc003trb.2_Missense_Mutation_p.P189S NM_015969 NP_057053 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 precursor 94 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGTCATAGATCCAGTGACAGG 0.458 NaN 0 0 0 0.007291 0 29 90 SEMA3A 10371 broad.mit.edu 37 7 83764184 83764184 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:83764184G>A uc003uhz.2 - 2 511 c.196C>T c.(196-198)CGG>TGG p.R66W NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 66 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 AGCCTACTCCGTTCCTCATCC 0.388 NaN 0 0 0 0.000602 0 3 72 SPDYE3 441272 broad.mit.edu 37 7 99917593 99917593 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:99917593G>A uc003uug.1 + 5 739 c.499G>A c.(499-501)GAT>AAT p.D167N uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 544 0 GTGGGCGCGAGATCGCGCCCA 0.582 NaN 0 0 0 0.012213 0 27 18 SRRT 51593 broad.mit.edu 37 7 100485992 100485992 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:100485992A>C uc003uwy.2 + 20 2811 c.2543A>C c.(2542-2544)AAA>ACA p.K848T SRRT_uc010lhl.1_Missense_Mutation_p.K847T|SRRT_uc003uxa.2_Missense_Mutation_p.K843T|SRRT_uc003uwz.2_Missense_Mutation_p.K844T|uc010lhm.1_5'Flank NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 848 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TATCCTGGGAAACCTCGCAAC 0.612 NaN 0 0 0 0.013537 0 11 13 LAMB4 22798 broad.mit.edu 37 7 107746973 107746973 + Silent SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:107746973A>C uc010ljo.1 - 7 720 c.636T>G c.(634-636)CCT>CCG p.P212P LAMB4_uc003vey.2_Silent_p.P212P NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 212 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AGGGGCTATAAGGGTTTTCAA 0.269 NaN 0 0 0 0.010729 0 11 7 AKR1D1 6718 broad.mit.edu 37 7 137798473 137798473 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:137798473A>G uc003vtz.2 + 8 962 c.893A>G c.(892-894)GAC>GGC p.D298G AKR1D1_uc011kqe.1_Intron|AKR1D1_uc011kqf.1_Missense_Mutation_p.D257G|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 298 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 GAAATGAAGGACATTGAAGCC 0.388 NaN 0 0 0 0.006122 0 13 23 ZYX 7791 broad.mit.edu 37 7 143079495 143079495 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:143079495G>A uc003wcw.2 + 3 518 c.363G>A c.(361-363)CCG>CCA p.P121P ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Silent_p.P121P|ZYX_uc011kte.1_Silent_p.P121P|ZYX_uc011ktf.1_5'UTR NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 121 Pro-rich. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CGCCTCCTCCGGAGGAGGAGG 0.697 NaN 0 0 0 0.004007 0 14 17 MLL3 58508 broad.mit.edu 37 7 151896487 151896487 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:151896487C>T uc003wla.2 - 27 4369 c.4150G>A c.(4150-4152)GAT>AAT p.D1384N MLL3_uc003wkz.2_Missense_Mutation_p.D445N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1384 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) GACAGATTATCTAAACTTATC 0.348 NaN N medulloblastoma 0 0 0 0.00499 0 16 13 PSD3 23362 broad.mit.edu 37 8 18729886 18729886 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:18729886C>T uc003wza.2 - 3 591 c.488G>A c.(487-489)AGT>AAT p.S163N NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 163 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AACTGAAAAACTAGAAACAGC 0.443 NaN 0 0 0 0.006214 0 9 31 SCARA5 286133 broad.mit.edu 37 8 27737165 27737165 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:27737165C>T uc003xgj.2 - 8 1712 c.1272G>A c.(1270-1272)AAG>AAA p.K424K SCARA5_uc010luz.2_Silent_p.K199K NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 424 SRCR.|Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CTCCGTCCTTCTTGTCCCAGC 0.642 NaN 0 0 0 0.005524 0 32 118 HGSNAT 138050 broad.mit.edu 37 8 43053085 43053085 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:43053085C>G uc003xpx.3 + 17 1764 c.1716C>G c.(1714-1716)TTC>TTG p.F572L NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 600 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GAACCCCATTCTTTTATCCAG 0.547 NaN 0 0 0 0.001984 0 6 35 CHD7 55636 broad.mit.edu 37 8 61754499 61754499 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:61754499G>A uc003xue.2 + 21 5215 c.4738G>A c.(4738-4740)GAA>AAA p.E1580K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1580 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) CTCAGACTTGGAAAGTGATTC 0.468 NaN 0 0 0 0.000602 0 5 17 BHLHE22 27319 broad.mit.edu 37 8 65494338 65494338 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:65494338G>A uc003xvi.2 + 1 1525 c.991G>A c.(991-993)GCT>ACT p.A331T LOC401463_uc003xvh.2_5'UTR NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 331 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AGCGGCAGCAGCTGCTGCCCT 0.741 NaN 0 0 0 0.000602 0 4 5 TRAM1 23471 broad.mit.edu 37 8 71510491 71510491 + Splice_Site SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:71510491C>T uc003xyo.1 - 3 358 c.188_splice c.e3-1 p.E63_splice TRAM1_uc011lfc.1_Splice_Site_p.E32_splice NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) GCTTGTTCTTCTGAAGACCAA 0.333 NaN 0 0 0 0.003163 0 13 35 KIAA1429 25962 broad.mit.edu 37 8 95547204 95547204 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:95547204C>T uc003ygo.1 - 5 360 c.347G>A c.(346-348)TGG>TAG p.W116* KIAA1429_uc003ygp.2_Nonsense_Mutation_p.W116* NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 116 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ACAGTTATACCAGCCTCTTAG 0.343 NaN 0 0 0 0.01441 0 41 158 FZD6 8323 broad.mit.edu 37 8 104337528 104337528 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:104337528A>C uc003ylh.2 + 4 1478 c.1194A>C c.(1192-1194)CAA>CAC p.Q398H FZD6_uc003yli.2_Missense_Mutation_p.Q398H|FZD6_uc003ylj.2_Missense_Mutation_p.Q398H|FZD6_uc011lhn.1_Missense_Mutation_p.Q364H|FZD6_uc011lho.1_Missense_Mutation_p.Q93H|FZD6_uc011lhp.1_Missense_Mutation_p.Q343H NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 398 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATGTTCGACAAGTCATACAAC 0.408 NaN 0 0 0 0.01441 0 68 194 KCNV1 27012 broad.mit.edu 37 8 110984991 110984991 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:110984991C>G uc003ynr.3 - 2 829 c.487G>C c.(487-489)GAA>CAA p.E163Q KCNV1_uc010mcw.2_Missense_Mutation_p.E163Q NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 163 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCTAAAGTTTCACTCAGCTCT 0.383 NaN 0 0 0 0.01441 0 54 76 CSMD3 114788 broad.mit.edu 37 8 113304838 113304838 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:113304838G>A uc003ynu.2 - 55 8875 c.8716C>T c.(8716-8718)CTT>TTT p.L2906F CSMD3_uc003yns.2_Missense_Mutation_p.L2108F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2866F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2737F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2906 Extracellular (Potential).|Sushi 19. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCTTGCATAAGATACCCAATA 0.438 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.01441 0 49 156 CSMD3 114788 broad.mit.edu 37 8 113363413 113363413 + Missense_Mutation SNP T T C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:113363413T>C uc003ynu.2 - 40 6475 c.6316A>G c.(6316-6318)ATT>GTT p.I2106V CSMD3_uc003yns.2_Missense_Mutation_p.I1308V|CSMD3_uc003ynt.2_Missense_Mutation_p.I2066V|CSMD3_uc011lhx.1_Missense_Mutation_p.I2002V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2106 Extracellular (Potential).|Sushi 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCTAAACAAATTGGGATTGGA 0.303 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.006122 0 15 85 RAD21 5885 broad.mit.edu 37 8 117864827 117864827 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:117864827C>A uc003yod.2 - 10 1570 c.1282G>T c.(1282-1284)GAG>TAG p.E428* NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 428 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TGCTGGTCCTCTCTAGGAACC 0.413 NaN 1 0 6.33239e-15 0.010504 6.70875e-15 18 126 TG 7038 broad.mit.edu 37 8 133899037 133899037 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:133899037G>C uc003ytw.2 + 9 1461 c.1420G>C c.(1420-1422)GGG>CGG p.G474R NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 474 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTTTTTGGAGGGAAATTTTT 0.473 NaN 0 0 0 0.012213 0 32 41 ZNF251 90987 broad.mit.edu 37 8 145947530 145947530 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr8:145947530A>C uc003zdv.3 - 5 1771 c.1515T>G c.(1513-1515)ATT>ATG p.I505M NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 505 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTGATGCTGAATGAGGGTTG 0.537 NaN 0 0 0 0.01441 0 64 66 FREM1 158326 broad.mit.edu 37 9 14740152 14740152 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:14740152C>G uc003zlm.2 - 36 6925 c.6335G>C c.(6334-6336)TGG>TCG p.W2112S FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.W648S NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2112 C-type lectin. 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) CTTGCCTATCCAAAAGGACTT 0.498 NaN 0 0 0 0.006999 0 31 170 VCP 7415 broad.mit.edu 37 9 35059694 35059694 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:35059694G>A uc003zvy.2 - 14 2189 c.1800C>T c.(1798-1800)GTC>GTT p.V600V VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V269V|VCP_uc010mki.1_Silent_p.V555V NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 600 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTGGTTGATGACTCGGTCAG 0.512 NaN 0 0 0 0.01441 0 111 102 DCAF10 79269 broad.mit.edu 37 9 37861326 37861326 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:37861326G>A uc004aao.2 + 7 1575 c.1501G>A c.(1501-1503)GAC>AAC p.D501N DCAF10_uc010mlz.2_Missense_Mutation_p.D328N|DCAF10_uc004aap.2_Missense_Mutation_p.D152N NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 501 WD 6. CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 GTTGGGATTTGACAAACAGTG 0.488 NaN 0 0 0 0.005524 0 36 127 FAM122A 116224 broad.mit.edu 37 9 71395443 71395443 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:71395443C>T uc004agw.1 + 1 480 c.363C>T c.(361-363)TTC>TTT p.F121F PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron NM_138333 NP_612206 Q96E09 F122A_HUMAN hypothetical protein LOC116224 121 0 AGGAAAGTTTCAGCCTGAGTG 0.557 NaN 0 0 0 0.01441 0 108 173 APBA1 320 broad.mit.edu 37 9 72091005 72091005 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:72091005G>C uc004ahh.2 - 3 1531 c.1255C>G c.(1255-1257)CTT>GTT p.L419V NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 419 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CTGGGGTGAAGAGATGTGCTT 0.498 NaN 0 0 0 0.007413 0 16 55 FLJ46321 389763 broad.mit.edu 37 9 84609239 84609239 + Missense_Mutation SNP C C T rs115598379 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:84609239C>T uc004amn.2 + 4 3901 c.3854C>T c.(3853-3855)ACG>ATG p.T1285M NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1285 integral to membrane 0 TGTCAAGTTACGAATTTCCCA 0.562 NaN 0 0 0 0.00245 0 13 22 SLC28A3 64078 broad.mit.edu 37 9 86917263 86917263 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:86917263G>A uc010mpz.2 - 5 501 c.376C>T c.(376-378)CAC>TAC p.H126Y SLC28A3_uc011lsy.1_Missense_Mutation_p.H57Y|SLC28A3_uc004anu.1_Missense_Mutation_p.H126Y|SLC28A3_uc010mqb.2_Missense_Mutation_p.H57Y NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 126 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 AGGGCTCTGTGAAAGTTCAGC 0.483 NaN 0 0 0 0.00308 0 7 20 NXNL2 158046 broad.mit.edu 37 9 91150578 91150578 + Nonsense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:91150578C>T uc011ltj.1 + 1 563 c.229C>T c.(229-231)CAG>TAG p.Q77* NXNL2_uc004aqa.2_Nonsense_Mutation_p.Q77* NM_001161625 NP_001155097 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 isoform 1 77 Thioredoxin. 0 CGGCAGCTCCCAGGAGATGCT 0.647 NaN 0 0 0 0.010504 0 18 30 FAM120AOS 158293 broad.mit.edu 37 9 96212868 96212868 + Nonsense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:96212868C>A uc004atu.3 - 2 1460 c.577G>T c.(577-579)GGA>TGA p.G193* FAM120AOS_uc004atm.2_RNA|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA|FAM120A_uc004atv.2_5'Flank|FAM120A_uc004atw.2_5'Flank NM_198841 NP_942138 Q5T036 F120S_HUMAN hypothetical protein LOC158293 193 0 CATCCTGCTCCTCTACAGAGG 0.493 NaN 1 0 0.000274275 0.004482 0.000279768 8 27 C9orf3 84909 broad.mit.edu 37 9 97844896 97844896 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:97844896G>A uc004ava.2 + 15 2494 c.2359G>A c.(2359-2361)GAG>AAG p.E787K C9orf3_uc004auy.2_Missense_Mutation_p.E688K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.E149K|C9orf3_uc011luk.1_Missense_Mutation_p.E128K|C9orf3_uc004avd.2_Missense_Mutation_p.E149K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 787 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GATGGTGAGTGAGGACGCCAG 0.597 NaN 0 0 0 0.003755 0 32 51 C9orf102 375748 broad.mit.edu 37 9 98660185 98660185 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:98660185G>C uc004avt.3 + 3 947 c.559G>C c.(559-561)GAA>CAA p.E187Q C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 187 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TGAGGATATTGAAAATAACAT 0.333 NaN 0 0 0 0.00333 0 20 65 FAM22G 441457 broad.mit.edu 37 9 99691320 99691320 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:99691320G>C uc004awq.1 + 1 729 c.14G>C c.(13-15)GGA>GCA p.G5A NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 5 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) GCTTCAAATGGAGGTGAGCCT 0.537 NaN 0 0 0 0.01441 0 91 106 LPPR1 54886 broad.mit.edu 37 9 104032211 104032211 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:104032211C>A uc004bbb.2 + 3 512 c.113C>A c.(112-114)ACT>AAT p.T38N LPPR1_uc011lvi.1_Missense_Mutation_p.T14N|LPPR1_uc004bbc.2_Missense_Mutation_p.T38N|LPPR1_uc010mtc.2_Missense_Mutation_p.T22N NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 38 integral to membrane catalytic activity 0 TTCGAATGCACTGACACTTTT 0.502 NaN 1 0 5.03518e-11 0.007413 5.28731e-11 18 70 ZNF462 58499 broad.mit.edu 37 9 109688717 109688717 + Missense_Mutation SNP C C A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:109688717C>A uc004bcz.2 + 3 2813 c.2524C>A c.(2524-2526)CTT>ATT p.L842I ZNF462_uc010mto.2_Missense_Mutation_p.L690I|ZNF462_uc004bda.2_Missense_Mutation_p.L690I NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 842 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CTCTGGAAGGCTTTACTATTG 0.423 NaN 1 0 1.39921e-30 0.01441 1.52079e-30 71 109 PTPN3 5774 broad.mit.edu 37 9 112225592 112225592 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:112225592C>T uc004bed.2 - 2 235 c.123G>A c.(121-123)CAG>CAA p.Q41Q PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.Q41Q|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.3_Silent_p.Q41Q NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 41 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CTTTAAAGGTCTGTACCACGC 0.358 NaN 0 0 0 0.005443 0 25 43 TNFSF15 9966 broad.mit.edu 37 9 117568272 117568272 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:117568272C>T uc004bjh.2 - 1 137 c.21G>A c.(19-21)CTG>CTA p.L7L NM_005118 NP_005109 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, 7 Cytoplasmic (Potential). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding 0 CCCCAAAGCTCAGTCCCAGAT 0.622 NaN 0 0 0 0.01441 0 43 87 RABEPK 10244 broad.mit.edu 37 9 127990287 127990287 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:127990287G>A uc004bpi.2 + 7 798 c.625G>A c.(625-627)GGA>AGA p.G209R RABEPK_uc004bpj.2_Missense_Mutation_p.G158R|RABEPK_uc004bpk.2_Missense_Mutation_p.G209R|RABEPK_uc004bpl.1_Missense_Mutation_p.G158R|RABEPK_uc004bpm.2_Missense_Mutation_p.G209R NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 209 Kelch 4. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 CTTCATCCACGGAGGCTTGGC 0.488 NaN 0 0 0 0.001984 0 7 50 GAPVD1 26130 broad.mit.edu 37 9 128074826 128074826 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:128074826G>C uc010mwx.2 + 9 1863 c.1537G>C c.(1537-1539)GAG>CAG p.E513Q GAPVD1_uc011lzs.1_Missense_Mutation_p.E513Q|GAPVD1_uc004bpp.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E513Q|GAPVD1_uc010mwy.1_Missense_Mutation_p.E372Q NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 513 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCAACCAGAAGAGGTGTTGGT 0.433 NaN 0 0 0 0.01441 0 35 55 GARNL3 84253 broad.mit.edu 37 9 130119513 130119513 + Missense_Mutation SNP G G T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:130119513G>T uc011mae.1 + 21 2352 c.1951G>T c.(1951-1953)GAC>TAC p.D651Y GARNL3_uc011mad.1_Missense_Mutation_p.D629Y|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 651 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTGTCTGTCTGACTCTCCCAT 0.522 NaN 1 0 3.27435e-08 0.00245 3.39827e-08 12 101 NUP214 8021 broad.mit.edu 37 9 134026030 134026030 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:134026030G>A uc004cag.2 + 16 2266 c.2155G>A c.(2155-2157)GAG>AAG p.E719K NUP214_uc004cah.2_Missense_Mutation_p.E709K|NUP214_uc004cai.2_Missense_Mutation_p.E149K|NUP214_uc004caf.1_Missense_Mutation_p.E708K|NUP214_uc010mzf.2_Missense_Mutation_p.E17K NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 719 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GGAGTTGGAAGAGTTAAAAGC 0.438 NaN T DEK|SET|ABL1 AML|T-ALL 0 0 0 0.004007 0 15 79 NUP214 8021 broad.mit.edu 37 9 134026095 134026095 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:134026095G>A uc004cag.2 + 16 2331 c.2220G>A c.(2218-2220)CTG>CTA p.L740L NUP214_uc004cah.2_Silent_p.L730L|NUP214_uc004cai.2_Silent_p.L170L|NUP214_uc004caf.1_Silent_p.L729L|NUP214_uc010mzf.2_Silent_p.L38L NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 740 Leucine-zipper 1.|11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGAAGATGCTGCGAACAGAAT 0.408 NaN T DEK|SET|ABL1 AML|T-ALL 0 0 0 0.009535 0 28 100 SETX 23064 broad.mit.edu 37 9 135139634 135139634 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:135139634G>A uc004cbk.2 - 26 8209 c.8026C>T c.(8026-8028)CTT>TTT p.L2676F SETX_uc004cbj.2_Missense_Mutation_p.L2324F|SETX_uc010mzt.2_Missense_Mutation_p.L2262F NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2676 Necessary for nuclear localization. cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCCTATAAAAGCTTTCTTTTC 0.493 NaN 0 0 0 0.01441 0 67 95 VAV2 7410 broad.mit.edu 37 9 136804268 136804268 + Missense_Mutation SNP A A G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:136804268A>G uc004ces.2 - 2 324 c.278T>C c.(277-279)CTG>CCG p.L93P VAV2_uc004cer.2_Missense_Mutation_p.L93P NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 93 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGGGTCAAACAGCTCGCTGTT 0.502 NaN 0 0 0 0.006999 0 40 57 KIAA0649 9858 broad.mit.edu 37 9 138376899 138376899 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:138376899C>T uc004cfr.1 + 4 1092 c.543C>T c.(541-543)GCC>GCT p.A181A NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 181 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) ACGGCAGTGCCCCGACTGCCC 0.706 NaN 0 0 0 0.00245 0 13 48 CAMSAP1 157922 broad.mit.edu 37 9 138713796 138713796 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:138713796G>A uc004cgr.3 - 11 2711 c.2711C>T c.(2710-2712)GCA>GTA p.A904V CAMSAP1_uc004cgq.3_Missense_Mutation_p.A794V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A626V NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 904 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GCGCTGCCTTGCCGACAGCGC 0.632 NaN 0 0 0 0.01441 0 41 76 MAN1B1 11253 broad.mit.edu 37 9 139981500 139981500 + Missense_Mutation SNP T T A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:139981500T>A uc004cld.2 + 1 84 c.49T>A c.(49-51)TCG>ACG p.S17T MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.S17T|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 17 Cytoplasmic (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) TTCCTCTCAGTCGGACTTCCT 0.692 NaN 0 0 0 0.013537 0 8 5 CACNA1B 774 broad.mit.edu 37 9 140878605 140878605 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr9:140878605G>A uc004cog.2 + 13 1817 c.1672G>A c.(1672-1674)GTC>ATC p.V558I CACNA1B_uc011mfd.1_Missense_Mutation_p.V89I NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 558 Helical; Name=S3 of repeat II; (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGTGGGGAGCGTCTTTGAAGT 0.592 NaN 0 0 0 0.000602 0 4 8 PRRG1 5638 broad.mit.edu 37 X 37312442 37312442 + Silent SNP A A T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:37312442A>T uc004ddn.2 + 5 478 c.225A>T c.(223-225)GGA>GGT p.G75G PRRG1_uc004ddo.2_Silent_p.G75G NM_000950 NP_000941 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 75 Extracellular (Potential). extracellular region|integral to plasma membrane calcium ion binding ovary(1)|breast(1) 2 GTAACCGAGGAAGTGACTGGT 0.373 NaN 0 0 0 0.009535 0 27 9 CACNA1F 778 broad.mit.edu 37 X 49079027 49079027 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:49079027C>T uc004dnb.2 - 17 2337 c.2275G>A c.(2275-2277)GAC>AAC p.D759N CACNA1F_uc010nip.2_Missense_Mutation_p.D748N NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 759 II.|Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GCCAGGTTGTCCACAGCAATG 0.562 NaN 0 0 0 0.010818 0 25 18 HDAC8 55869 broad.mit.edu 37 X 71792545 71792545 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:71792545C>T uc004eau.2 - 1 109 c.67G>A c.(67-69)GAG>AAG p.E23K HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Missense_Mutation_p.E23K|HDAC8_uc011mqh.1_Missense_Mutation_p.E23K|HDAC8_uc010nlk.1_5'UTR|HDAC8_uc004eav.2_Missense_Mutation_p.E23K|HDAC8_uc004eaw.2_RNA NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN histone deacetylase 8 23 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion 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)|transcription factor binding 0 Renal(35;0.156) Vorinostat(DB02546) CTGACATACTCGGGACTATAG 0.592 NaN 0 0 0 0.01441 0 68 42 PCDH19 57526 broad.mit.edu 37 X 99661763 99661763 + Silent SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:99661763G>A uc010nmz.2 - 1 3509 c.1833C>T c.(1831-1833)GAC>GAT p.D611D PCDH19_uc004efw.3_Silent_p.D611D|PCDH19_uc004efx.3_Silent_p.D611D NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 611 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 AGAAGCCGCGGTCGCCCTCGG 0.567 NaN 0 0 0 0.004482 0 8 58 AMOT 154796 broad.mit.edu 37 X 112033995 112033995 + Nonsense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:112033995G>A uc004epr.2 - 7 1942 c.1942C>T c.(1942-1944)CAG>TAG p.Q648* AMOT_uc004eps.2_Nonsense_Mutation_p.Q239* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 648 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 TTGGTGGGCTGACAGTTGCCC 0.512 NaN 0 0 0 0.010771 0 39 29 DDX26B 203522 broad.mit.edu 37 X 134709105 134709105 + Missense_Mutation SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:134709105C>T uc004eyw.3 + 13 2090 c.1727C>T c.(1726-1728)CCC>CTC p.P576L DDX26B_uc004eyx.3_Missense_Mutation_p.P177L NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 576 0 Acute lymphoblastic leukemia(192;6.56e-05) CCAGACCAACCCAAAAGACTG 0.403 NaN 0 0 0 0.01441 0 59 29 CNGA2 1260 broad.mit.edu 37 X 150911821 150911821 + Silent SNP C C T TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:150911821C>T uc004fey.1 + 7 1070 c.846C>T c.(844-846)ATC>ATT p.I282I NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 282 Helical; Name=H4; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTACATCTTGGTCATCA 0.507 NaN 0 0 0 0.01441 0 90 48 PDZD4 57595 broad.mit.edu 37 X 153069709 153069709 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chrX:153069709G>A uc004fiz.1 - 8 1659 c.1409C>T c.(1408-1410)GCC>GTC p.A470V PDZD4_uc004fiy.1_Missense_Mutation_p.A395V|PDZD4_uc004fix.2_Missense_Mutation_p.A374V|PDZD4_uc004fja.1_Missense_Mutation_p.A476V|PDZD4_uc011mze.1_Missense_Mutation_p.A361V NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 470 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGTTGTAGGCGCTGGTGCT 0.672 NaN 0 0 0 0.00333 0 23 11 RRAGC 64121 broad.mit.edu 37 1 39325198 39325200 + In_Frame_Del DEL CCG CCG - rs113599946 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:39325198_39325200delCCG uc001ccq.2 - 1 141_143 c.119_121delCGG c.(118-123)GCGGGC>GGC p.A40del RRAGC_uc010oim.1_In_Frame_Del_p.A40del|RRAGC_uc001ccr.2_Intron NM_022157 NP_071440 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C 40 apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) acccctccgcccgccgccgccgc 0.468 NaN NaN NaN NaN NaN NaN 2 4 --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr1:162326888_162326890delCAG uc001gbv.2 + 8 1288_1290 c.901_903delCAG c.(901-903)CAGdel p.Q306del NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.512 NaN NaN NaN NaN NaN NaN 8 273 --- --- SYNPO2L 79933 broad.mit.edu 37 10 75406489 75406493 + Frame_Shift_Del DEL GCCCC GCCCC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr10:75406489_75406493delGCCCC uc001jut.3 - 4 3069_3073 c.2917_2921delGGGGC c.(2917-2922)GGGGCAfs p.G973fs SYNPO2L_uc001jus.3_Frame_Shift_Del_p.G749fs NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 973_974 cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) CTGGTGCCCTGCCCCAGGCCTCCAC 0.595 NaN NaN NaN NaN NaN NaN 35 169 --- --- ARHGAP20 57569 broad.mit.edu 37 11 110582896 110582897 + Frame_Shift_Ins INS - - A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr11:110582896_110582897insA uc001pkz.1 - 2 343_344 c.58_59insT c.(58-60)TCCfs p.S20fs ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 20 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCCTGTCAGGGAAGAGGAGCGC 0.48 NaN NaN NaN NaN NaN NaN 19 34 --- --- KLRD1 3824 broad.mit.edu 37 12 10464092 10464100 + In_Frame_Del DEL TGGGTTGGG TGGGTTGGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:10464092_10464100delTGGGTTGGG uc001qxw.3 + 5 390_398 c.193_201delTGGGTTGGG c.(193-201)TGGGTTGGGdel p.WVG65del KLRD1_uc001qxx.3_In_Frame_Del_p.WVG65del|KLRD1_uc001qxy.3_In_Frame_Del_p.WVG34del|KLRD1_uc009zhh.2_In_Frame_Del_p.WVG44del|KLRD1_uc009zhi.2_In_Frame_Del_p.WVG65del|KLRD1_uc001qxz.3_In_Frame_Del_p.WVG65del NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 65_67 Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 CCAAGAAAAATGGGTTGGGTACCGGTGCA 0.402 NaN NaN NaN NaN NaN NaN 15 101 --- --- CAND1 55832 broad.mit.edu 37 12 67696105 67696119 + In_Frame_Del DEL AGTGATGATGAATAC AGTGATGATGAATAC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr12:67696105_67696119delAGTGATGATGAATAC uc001stn.2 + 8 1440_1454 c.1003_1017delAGTGATGATGAATAC c.(1003-1017)AGTGATGATGAATACdel p.SDDEY335del CAND1_uc001sto.2_In_Frame_Del_p.SDDEY13del NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 335_339 Asp-rich.|HEAT 8. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ACCCTTAGGGAGTGATGATGAATACAGTGATGATG 0.358 NaN NaN NaN NaN NaN NaN 10 179 --- --- RB1 5925 broad.mit.edu 37 13 48937042 48937043 + Frame_Shift_Ins INS - - A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:48937042_48937043insA uc001vcb.2 + 8 976_977 c.810_811insA c.(808-813)GATACAfs p.D270fs RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 270_271 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.?(5)|p.L267fs*3(1) 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) TAGAAAATGATACAAGAATTAT 0.342 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) NaN NaN NaN NaN NaN 40 49 --- --- IPO5 3843 broad.mit.edu 37 13 98652878 98652880 + In_Frame_Del DEL ATT ATT - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr13:98652878_98652880delATT uc001vnf.1 + 10 1152_1154 c.1087_1089delATT c.(1087-1089)ATTdel p.I363del IPO5_uc001vne.2_In_Frame_Del_p.I381del|IPO5_uc010tik.1_In_Frame_Del_p.I238del|IPO5_uc010til.1_In_Frame_Del_p.I303del|IPO5_uc001vng.1_5'Flank NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 363 Ran-GTP binding (By similarity). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 CAAGGAACACATTATGCAAATGC 0.414 NaN NaN NaN NaN NaN NaN 36 97 --- --- NIN 51199 broad.mit.edu 37 14 51237206 51237208 + In_Frame_Del DEL AGG AGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr14:51237206_51237208delAGG uc001wym.2 - 12 1523_1525 c.1332_1334delCCT c.(1330-1335)ATCCTG>ATG p.444_445IL>M NIN_uc001wyi.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_In_Frame_Del_p.444_445IL>M|NIN_uc010tqp.1_In_Frame_Del_p.450_451IL>M|NIN_uc001wyo.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyp.1_In_Frame_Del_p.406_407IL>M NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 444_445 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TGCCTGCTGCAGGATCTGCTCTC 0.448 NaN T PDGFRB MPD NaN NaN NaN NaN NaN 14 55 --- --- TAOK2 9344 broad.mit.edu 37 16 29994974 29994988 + Splice_Site DEL ACCGCCTCCCTGGTG ACCGCCTCCCTGGTG - rs61737875 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:29994974_29994988delACCGCCTCCCTGGTG uc002dva.1 + 13 2205 c.1422_splice c.e13+1 p.L474_splice uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Splice_Site_p.L474_splice|TAOK2_uc002dvc.1_Splice_Site_p.L474_splice|TAOK2_uc010bzm.1_Splice_Site_p.L481_splice|TAOK2_uc002dvd.1_Splice_Site_p.L301_splice NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CACCATCCGAACCGCCTCCCTGGTGAGTGTAGCCA 0.577 NaN NaN NaN NaN NaN NaN 44 396 --- --- FOXC2 2303 broad.mit.edu 37 16 86601790 86601790 + Frame_Shift_Del DEL G G - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr16:86601790delG uc002fjq.2 + 1 934 c.849delG c.(847-849)CCGfs p.P283fs NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 283 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 CGTCGCCGCCGGGCGGAGAGC 0.677 NaN Late-onset_Hereditary_Lymphedema NaN NaN NaN NaN NaN 2 4 --- --- ENGASE 64772 broad.mit.edu 37 17 77082023 77082040 + In_Frame_Del DEL CGCTGCCAGCCTGCTGGC CGCTGCCAGCCTGCTGGC - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr17:77082023_77082040delCGCTGCCAGCCTGCTGGC uc002jwv.2 + 14 1832_1849 c.1824_1841delCGCTGCCAGCCTGCTGGC c.(1822-1842)GACGCTGCCAGCCTGCTGGCC>GAC p.AASLLA609del ENGASE_uc002jww.2_In_Frame_Del_p.AASLLA314del NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 609_614 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 AGGTGGTGGACGCTGCCAGCCTGCTGGCCCCTCTGCCC 0.706 NaN NaN NaN NaN NaN NaN 42 73 --- --- MBD1 4152 broad.mit.edu 37 18 47800628 47800639 + In_Frame_Del DEL GTCGCAGCAGAA GTCGCAGCAGAA - rs115570375 by1000genomes TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr18:47800628_47800639delGTCGCAGCAGAA uc010dow.1 - 11 1500_1511 c.1063_1074delTTCTGCTGCGAC c.(1063-1074)TTCTGCTGCGACdel p.FCCD355del MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.FCCD305del|MBD1_uc010xdi.1_In_Frame_Del_p.FCCD406del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.FCCD355del|MBD1_uc002lei.3_In_Frame_Del_p.FCCD355del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.FCCD306del|MBD1_uc002lel.3_In_Frame_Del_p.FCCD332del|MBD1_uc002lem.3_In_Frame_Del_p.FCCD355del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.FCCD380del|MBD1_uc010dox.1_In_Frame_Del_p.FCCD332del|MBD1_uc002leo.2_In_Frame_Del_p.FCCD355del NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 355_358 CXXC-type 3. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ATTTGGGCTTGTCGCAGCAGAAGTCGCAGCGG 0.651 NaN NaN NaN NaN NaN NaN 10 124 --- --- FOSL2 2355 broad.mit.edu 37 2 28635076 28635076 + Frame_Shift_Del DEL C C - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:28635076delC uc002rma.2 + 4 1551 c.742delC c.(742-744)CCCfs p.P248fs FOSL2_uc010ymi.1_Frame_Shift_Del_p.P209fs NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 248 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) TGTCATCAAGCCCATCAGCAT 0.652 NaN NaN NaN NaN NaN NaN 22 65 --- --- CHPF 79586 broad.mit.edu 37 2 220406623 220406638 + Frame_Shift_Del DEL GGTGTCAGGCACCAGG GGTGTCAGGCACCAGG - TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr2:220406623_220406638delGGTGTCAGGCACCAGG uc002vmc.3 - 2 815_830 c.588_603delCCTGGTGCCTGACACC c.(586-603)TTCCTGGTGCCTGACACCfs p.F196fs CHPF_uc010zlh.1_Frame_Shift_Del_p.F34fs|CHPF_uc002vmd.3_Frame_Shift_Del_p.F196fs|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 196_201 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CGGTGTAGGTGGTGTCAGGCACCAGGAAGAACCAGT 0.681 NaN OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 7 19 --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx b73523d7-f5a5-4140-8537-4df4d1ecf465 c79e40d8-3c21-4219-81f8-c448a38f0f18 g.chr7:131241030_131241035delGGCGAC uc003vqw.3 - 1 342_347 c.84_89delGTCGCC c.(82-90)CCGTCGCCC>CCC p.28_30PSP>P PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 28_30 Extracellular (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.573 NaN NaN NaN NaN NaN NaN 6 2 --- ---