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 CAMTA1 23261 broad.mit.edu 37 1 7723702 7723702 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:7723702G>A uc001aoi.2 + 9 1302 c.1095G>A c.(1093-1095)GGG>GGA p.G365G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCAGCAGCGGGCTCAACAGCG 0.662 NaN 0 0 0 0.010729 0 12 126 PER3 8863 broad.mit.edu 37 1 7863866 7863866 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:7863866G>T uc001aoo.2 + 9 1266 c.1091G>T c.(1090-1092)AGC>ATC p.S364I PER3_uc009vmg.1_Missense_Mutation_p.S365I|PER3_uc009vmh.1_Missense_Mutation_p.S365I|PER3_uc001aop.2_Missense_Mutation_p.S365I|PER3_uc010nzw.1_Missense_Mutation_p.S46I|PER3_uc001aon.2_Missense_Mutation_p.S364I NM_016831 NP_058515 P56645 PER3_HUMAN period 3 364 PAC. 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) AATCCCTGGAGCCGGAAGATT 0.403 NaN 1 0 1.36161e-19 0.004289 1.53322e-19 36 41 RERE 473 broad.mit.edu 37 1 8617577 8617577 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:8617577C>G uc001ape.2 - 6 1338 c.528G>C c.(526-528)AAG>AAC p.K176N RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 176 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GATGGTCCCTCTTACTCTGAA 0.438 NaN 0 0 0 0.012319 0 22 30 DFFA 1676 broad.mit.edu 37 1 10523593 10523593 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:10523593G>T uc001arj.2 - 4 624 c.526C>A c.(526-528)CAA>AAA p.Q176K DFFA_uc001ark.2_Missense_Mutation_p.Q176K NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 176 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AGCACCTGTTGGAGTGTGTGC 0.547 NaN 1 0 3.61848e-18 0.007835 4.05776e-18 40 167 C1orf127 148345 broad.mit.edu 37 1 11017751 11017751 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:11017751C>T uc010oao.1 - 3 173 c.168G>A c.(166-168)CTG>CTA p.L56L C1orf127_uc001arr.1_Silent_p.L56L|C1orf127_uc001ars.1_Silent_p.L56L NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 56 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACAGTCCCATCAGGCTGGCGT 0.582 NaN 0 0 0 0.00361 0 62 83 SPEN 23013 broad.mit.edu 37 1 16203049 16203049 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:16203049C>G uc001axk.1 + 3 961 c.757C>G c.(757-759)CAG>GAG p.Q253E SPEN_uc010obp.1_Missense_Mutation_p.Q212E NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 253 Ser-rich.|Arg-rich.|By similarity. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTCTAGAAATCAGTCTCCTCA 0.537 NaN 0 0 0 0.005524 0 33 90 LUZP1 7798 broad.mit.edu 37 1 23419953 23419953 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:23419953C>T uc001bgk.2 - 4 1186 c.802G>A c.(802-804)GAG>AAG p.E268K LUZP1_uc010odv.1_Missense_Mutation_p.E268K|LUZP1_uc001bgl.2_Missense_Mutation_p.E268K|LUZP1_uc001bgm.1_Missense_Mutation_p.E268K NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 268 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GTTTCATTCTCTACCTGCTTT 0.413 NaN 0 0 0 0.010818 0 32 51 LUZP1 7798 broad.mit.edu 37 1 23420139 23420139 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:23420139C>G uc001bgk.2 - 4 1000 c.616G>C c.(616-618)GAA>CAA p.E206Q LUZP1_uc010odv.1_Missense_Mutation_p.E206Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E206Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E206Q NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 206 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTCTCATTTTCTTTCTCCTTT 0.328 NaN 0 0 0 0.007413 0 20 29 ASAP3 55616 broad.mit.edu 37 1 23763091 23763091 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:23763091G>A uc001bha.2 - 16 1657 c.1533C>T c.(1531-1533)CCC>CCT p.P511P ASAP3_uc001bgy.1_Silent_p.P15P|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.P380P|ASAP3_uc010oea.1_Silent_p.P502P|ASAP3_uc001bhb.2_Silent_p.P34P NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 511 Arf-GAP. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CGCCGTGTGAGGGTAGCTGGG 0.587 NaN 0 0 0 0.00361 0 56 70 ZNF683 257101 broad.mit.edu 37 1 26691249 26691249 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:26691249G>A uc001bmg.1 - 4 906 c.788C>T c.(787-789)TCT>TTT p.S263F ZNF683_uc001bmh.1_Missense_Mutation_p.S263F|ZNF683_uc009vsj.1_Missense_Mutation_p.S263F NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) AGCTTGGCCAGAGGCTTGGAA 0.642 NaN 0 0 0 0.00361 0 58 48 FCN3 8547 broad.mit.edu 37 1 27699711 27699711 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:27699711C>G uc001boa.2 - 5 315 c.309G>C c.(307-309)TTG>TTC p.L103F FCN3_uc001bob.2_Missense_Mutation_p.L92F NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 103 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCAGCCGCTCAAGGTGGCGC 0.642 NaN 0 0 0 0.003271 0 34 71 GMEB1 10691 broad.mit.edu 37 1 29040947 29040947 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:29040947A>C uc001bra.2 + 10 1522 c.1384A>C c.(1384-1386)ACA>CCA p.T462P GMEB1_uc001bqz.2_Missense_Mutation_p.T452P|GMEB1_uc001brb.2_Missense_Mutation_p.T452P NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CTCACCAGACACAGTGACCAT 0.582 NaN 0 0 0 0.003954 0 26 83 S100PBP 64766 broad.mit.edu 37 1 33321593 33321593 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:33321593G>A uc001bvz.2 + 7 1458 c.1181G>A c.(1180-1182)CGA>CAA p.R394Q S100PBP_uc001bwc.2_Missense_Mutation_p.R394Q|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 394 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGGAACATGCGAAGCCACCAT 0.512 NaN 0 0 0 0.003954 0 25 60 DLGAP3 58512 broad.mit.edu 37 1 35365869 35365869 + Silent SNP C C T rs139408471 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:35365869C>T uc001byc.2 - 2 1113 c.1113G>A c.(1111-1113)CCG>CCA p.P371P NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 371 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) AGTCATCTTGCGGCACCTGCA 0.612 NaN 0 0 0 0.006122 0 18 187 RSPO1 284654 broad.mit.edu 37 1 38079496 38079496 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:38079496G>A uc001cbl.1 - 7 1293 c.505C>T c.(505-507)CGG>TGG p.R169W RSPO1_uc001cbm.1_Missense_Mutation_p.R169W|RSPO1_uc009vvf.1_Missense_Mutation_p.R142W|RSPO1_uc009vvg.1_Intron NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 169 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGCCCCTCCGGAAACCACAG 0.627 NaN 0 0 0 0.00308 0 8 117 LEPRE1 64175 broad.mit.edu 37 1 43224586 43224586 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:43224586C>G uc001chv.2 - 4 990 c.877G>C c.(877-879)GAG>CAG p.E293Q LEPRE1_uc001chw.2_Missense_Mutation_p.E293Q|LEPRE1_uc001chx.3_Missense_Mutation_p.E293Q NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 293 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AAGGGCTTCTCTCGACTTGGG 0.443 NaN 0 0 0 0.00361 0 51 63 TIE1 7075 broad.mit.edu 37 1 43778138 43778138 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:43778138C>T uc001ciu.2 + 12 1872 c.1793C>T c.(1792-1794)TCA>TTA p.S598L TIE1_uc010okd.1_Missense_Mutation_p.S598L|TIE1_uc010oke.1_Missense_Mutation_p.S553L|TIE1_uc009vwq.2_Missense_Mutation_p.S554L|TIE1_uc010okf.1_Missense_Mutation_p.S243L|TIE1_uc010okg.1_Missense_Mutation_p.S243L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 598 Fibronectin type-III 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAGAACGTCTCATCCCCCCAG 0.706 NaN 0 0 0 0.001168 0 5 42 SLC6A9 6536 broad.mit.edu 37 1 44482736 44482736 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:44482736G>T uc001cll.2 - 1 262 c.70C>A c.(70-72)CCC>ACC p.P24T SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.P24T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.P24T|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 24 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GGGGAAGAGGGGGCCACAGGT 0.677 NaN 1 0 7.07596e-05 0.006122 7.30378e-05 14 59 PRDX1 5052 broad.mit.edu 37 1 45981460 45981460 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:45981460G>C uc001cnz.2 - 2 158 c.126C>G c.(124-126)TTC>TTG p.F42L PRDX1_uc001coa.2_Missense_Mutation_p.F42L|PRDX1_uc001cob.2_Missense_Mutation_p.F42L|PRDX1_uc001coc.2_Missense_Mutation_p.F42L NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 42 Thioredoxin. 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) GAGGGTAAAAGAAGAACACAA 0.408 NaN 0 0 0 0.00361 0 67 57 CCDC17 149483 broad.mit.edu 37 1 46086690 46086690 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:46086690G>A uc010olt.1 - 11 1632 c.1484C>T c.(1483-1485)TCA>TTA p.S495L CCDC17_uc009vxy.2_Missense_Mutation_p.S463L|CCDC17_uc010ols.1_Missense_Mutation_p.S486L|CCDC17_uc001com.3_Missense_Mutation_p.S316L|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 495 ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TAGTCCAAGTGAGACCCAAGC 0.592 NaN 0 0 0 0.005443 0 26 26 LRRC41 10489 broad.mit.edu 37 1 46744710 46744710 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:46744710G>T uc001cpn.2 - 10 2310 c.2266C>A c.(2266-2268)CTG>ATG p.L756M LRRC41_uc010omb.1_3'UTR NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 756 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CAGCGCTCCAGCCGCTTGGCG 0.582 NaN 1 0 1.5842e-08 0.001855 1.69292e-08 11 64 ZYG11B 79699 broad.mit.edu 37 1 53287142 53287142 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:53287142A>C uc001cuj.2 + 14 2271 c.2076A>C c.(2074-2076)GAA>GAC p.E692D ZYG11B_uc010onj.1_Missense_Mutation_p.E613D|ZYG11B_uc009vzh.2_Missense_Mutation_p.E114D NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 692 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TGATTGAAGAAGGAGGATTGC 0.358 NaN 0 0 0 0.009096 0 4 55 PODN 127435 broad.mit.edu 37 1 53544320 53544320 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:53544320C>A uc001cuv.2 + 8 1289 c.1282C>A c.(1282-1284)CGC>AGC p.R428S PODN_uc001cuw.2_Missense_Mutation_p.R409S|PODN_uc010onr.1_Missense_Mutation_p.R409S|PODN_uc010ons.1_Missense_Mutation_p.R286S NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 380 LRR 12. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 TGGCCTGCCTCGCCGCGTGCG 0.632 NaN 1 0 1.76056e-25 0.011902 2.00733e-25 44 148 USP1 7398 broad.mit.edu 37 1 62916526 62916526 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:62916526G>C uc001daj.1 + 9 2560 c.2232G>C c.(2230-2232)GAG>GAC p.E744D USP1_uc001dak.1_Missense_Mutation_p.E744D|USP1_uc001dal.1_Missense_Mutation_p.E744D NM_001017415 NP_001017415 O94782 UBP1_HUMAN ubiquitin specific protease 1 744 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AGGAGTATGAGGGGAAGTGGT 0.373 NaN 0 0 0 0.010729 0 12 56 SGIP1 84251 broad.mit.edu 37 1 67155919 67155919 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:67155919T>C uc001dcr.2 + 17 1707 c.1490T>C c.(1489-1491)ATA>ACA p.I497T SGIP1_uc010opd.1_Missense_Mutation_p.I97T|SGIP1_uc001dcs.2_Missense_Mutation_p.I97T|SGIP1_uc001dct.2_Missense_Mutation_p.I97T|SGIP1_uc009wat.2_Missense_Mutation_p.I291T NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 497 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCTCCTCCAATAGCACCCTTA 0.458 NaN 0 0 0 0.007413 0 17 235 ABCD3 5825 broad.mit.edu 37 1 94943841 94943841 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:94943841C>G uc001dqn.3 + 8 756 c.654C>G c.(652-654)ATC>ATG p.I218M ABCD3_uc001dqm.3_Missense_Mutation_p.I218M|ABCD3_uc010oto.1_Missense_Mutation_p.I242M|ABCD3_uc010otp.1_Missense_Mutation_p.I145M|ABCD3_uc009wdr.2_Missense_Mutation_p.I218M NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 218 ABC transmembrane type-1. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTTTGTATATCTTTAAGTTAA 0.259 NaN 0 0 0 0.000602 0 4 27 KCNA2 3737 broad.mit.edu 37 1 111146504 111146504 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:111146504C>T uc001dzu.2 - 2 1397 c.901G>A c.(901-903)GTC>ATC p.V301I KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.V301I NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 301 Helical; Voltage-sensor; Name=Segment S4; (Potential). juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATCCTAAAGACTCTTACCAAC 0.527 NaN 0 0 0 0.004289 0 37 162 TSPAN2 10100 broad.mit.edu 37 1 115600206 115600206 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:115600206G>C uc001eft.2 - 6 530 c.468C>G c.(466-468)AGC>AGG p.S156R NM_005725 NP_005716 O60636 TSN2_HUMAN tetraspan 2 156 Extracellular (Potential). integral to membrane 0 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CCTGTTCGGAGCTTTCTTTTC 0.493 NaN 0 0 0 0.007291 0 23 269 ITGA10 8515 broad.mit.edu 37 1 145534181 145534181 + Silent SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:145534181T>C uc001eoa.2 + 14 1762 c.1686T>C c.(1684-1686)GAT>GAC p.D562D NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.D431D|ITGA10_uc009wiw.2_Silent_p.D419D|ITGA10_uc010oyw.1_Silent_p.D507D NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 562 Potential.|Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGAACCAAGATGGTTTTGCTG 0.582 NaN 0 0 0 0.005524 0 37 489 C1orf54 79630 broad.mit.edu 37 1 150246527 150246527 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:150246527T>A uc001eud.2 + 2 122 c.84T>A c.(82-84)GAT>GAA p.D28E C1orf54_uc001euc.2_Missense_Mutation_p.D28E|C1orf54_uc001eue.2_Missense_Mutation_p.D28E|C1orf54_uc001euf.2_Missense_Mutation_p.D28E|C1orf54_uc001eug.2_Missense_Mutation_p.D28E NM_024579 NP_078855 Q8WWF1 CA054_HUMAN hypothetical protein LOC79630 precursor 28 extracellular region 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TGGGAGAGGATGAATATTATC 0.448 NaN 0 0 0 0.012213 0 30 325 SETDB1 9869 broad.mit.edu 37 1 150915383 150915383 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:150915383G>A uc001evu.2 + 7 919 c.729G>A c.(727-729)TCG>TCA p.S243S SETDB1_uc009wmf.2_Silent_p.S243S|SETDB1_uc001evv.2_Silent_p.S243S|SETDB1_uc001evw.3_Silent_p.S243S|SETDB1_uc009wmg.1_Silent_p.S243S NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCTACTGTCGGGGAACCATA 0.453 NaN 0 0 0 0.008871 0 17 260 FLG 2312 broad.mit.edu 37 1 152279926 152279926 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:152279926T>G uc001ezu.1 - 3 7472 c.7436A>C c.(7435-7437)GAG>GCG p.E2479A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2479 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACCAATTGCTCGTAGTGGGA 0.572 NaN Ichthyosis 0 0 0 0.00361 0 74 870 DCST1 149095 broad.mit.edu 37 1 155018907 155018907 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:155018907C>T uc001fgn.1 + 13 1536 c.1440C>T c.(1438-1440)CTC>CTT p.L480L DCST1_uc010per.1_Silent_p.L505L|DCST1_uc010pes.1_Silent_p.L455L|uc001fgo.2_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 480 Helical; (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACTGGGCTCTCTACTCCATCT 0.612 NaN 0 0 0 0.004007 0 16 186 THBS3 7059 broad.mit.edu 37 1 155172605 155172605 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:155172605C>T uc001fix.2 - 8 978 c.955G>A c.(955-957)GAG>AAG p.E319K RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.E310K|THBS3_uc001fiz.2_Missense_Mutation_p.E319K|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.E199K|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 319 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCCTCACCTCATTGATGTCA 0.607 NaN 0 0 0 0.00361 0 42 143 DAP3 7818 broad.mit.edu 37 1 155698905 155698905 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:155698905G>A uc001flq.2 + 8 845 c.676G>A c.(676-678)GTT>ATT p.V226I DAP3_uc001flr.2_Missense_Mutation_p.V226I|DAP3_uc001fls.2_Missense_Mutation_p.V226I|DAP3_uc010pgl.1_Missense_Mutation_p.V185I|DAP3_uc001flt.2_Missense_Mutation_p.V192I|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Missense_Mutation_p.V192I NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 226 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGGAGAAGTGGTTGAACAGGT 0.398 NaN 0 0 0 0.008291 0 10 152 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:155887393T>G uc001fmi.1 - 11 1361 c.1337A>C c.(1336-1338)CAG>CCG p.Q446P KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 446 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.448 NaN 0 0 0 0.007291 0 21 91 RXFP4 339403 broad.mit.edu 37 1 155912334 155912334 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:155912334C>T uc010pgs.1 + 1 855 c.834C>T c.(832-834)CCC>CCT p.P278P NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 278 Extracellular (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) ACCTGGTGCCCTGGAACAGTA 0.537 NaN 0 0 0 0.00361 0 172 204 ARHGAP30 257106 broad.mit.edu 37 1 161021373 161021373 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:161021373G>C uc001fxl.2 - 10 1497 c.1151C>G c.(1150-1152)TCT>TGT p.S384C ARHGAP30_uc001fxk.2_Missense_Mutation_p.S384C|ARHGAP30_uc001fxm.2_Missense_Mutation_p.S230C|ARHGAP30_uc009wtx.2_Missense_Mutation_p.S57C|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S230C NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 384 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCCTGGTTCAGAGTTTGTGCC 0.607 NaN 0 0 0 0.00361 0 47 257 USP21 27005 broad.mit.edu 37 1 161130596 161130596 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:161130596C>T uc010pke.1 + 3 543 c.166C>T c.(166-168)CCA>TCA p.P56S USP21_uc010pkc.1_Missense_Mutation_p.P56S|USP21_uc010pkd.1_Missense_Mutation_p.P56S|USP21_uc010pkf.1_Missense_Mutation_p.P56S NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 56 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCCCCGGCCAGGTCTGCC 0.642 NaN 0 0 0 0.008291 0 11 242 OLFML2B 25903 broad.mit.edu 37 1 161954646 161954646 + Silent SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:161954646A>G uc001gbu.2 - 7 2023 c.1599T>C c.(1597-1599)TAT>TAC p.Y533Y OLFML2B_uc001gbt.2_Silent_p.Y16Y|OLFML2B_uc010pkq.1_Silent_p.Y534Y NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 533 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGCCGTAGTAATAGTTGGTTA 0.537 NaN 0 0 0 0.00361 0 76 382 ILDR2 387597 broad.mit.edu 37 1 166927059 166927059 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:166927059G>A uc001gdx.1 - 2 382 c.326C>T c.(325-327)TCG>TTG p.S109L NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 109 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(1) 1 GGTGACAGTCGAGCCCTGTTT 0.493 NaN 0 0 0 0.00361 0 46 174 KLHL20 27252 broad.mit.edu 37 1 173754326 173754326 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:173754326C>T uc001gjc.2 + 12 1950 c.1771C>T c.(1771-1773)CGG>TGG p.R591W KLHL20_uc010pmr.1_Missense_Mutation_p.R402W|KLHL20_uc009wwf.2_Missense_Mutation_p.R573W NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 591 Kelch 6. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 GAATTACCGTCGGCTAGGGGG 0.363 NaN 0 0 0 0.004878 0 32 44 TNR 7143 broad.mit.edu 37 1 175336348 175336348 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:175336348C>G uc001gkp.1 - 8 2130 c.2049G>C c.(2047-2049)AGG>AGC p.R683S TNR_uc009wwu.1_Missense_Mutation_p.R683S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 683 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACTCACCAGTCCTGGCATTCA 0.493 NaN 0 0 0 0.010818 0 27 85 HMCN1 83872 broad.mit.edu 37 1 186094817 186094817 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:186094817G>C uc001grq.1 + 82 12810 c.12581G>C c.(12580-12582)GGA>GCA p.G4194A HMCN1_uc001grs.1_5'Flank NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4194 Ig-like C2-type 41. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTAGCTGATGGAATCCCCACA 0.388 NaN 0 0 0 0.00632 0 26 70 HMCN1 83872 broad.mit.edu 37 1 186114897 186114897 + Nonsense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:186114897G>A uc001grq.1 + 93 14679 c.14450G>A c.(14449-14451)TGG>TAG p.W4817* HMCN1_uc001grs.1_Nonsense_Mutation_p.W386* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4817 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATGGAAGTTGGGGAAGCTGG 0.498 NaN 0 0 0 0.00361 0 60 75 ASPM 259266 broad.mit.edu 37 1 197073065 197073065 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:197073065C>T uc001gtu.2 - 18 5573 c.5316G>A c.(5314-5316)CTG>CTA p.L1772L ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1772 IQ 7. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TATACATTTTCAGATAATACT 0.358 NaN 0 0 0 0.001855 0 14 90 LGTN 1939 broad.mit.edu 37 1 206782760 206782760 + Silent SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:206782760A>C uc001heh.2 - 3 509 c.300T>G c.(298-300)CCT>CCG p.P100P LGTN_uc009xbw.2_Silent_p.P100P|LGTN_uc010prw.1_Silent_p.P100P NM_006893 NP_008824 P41214 EIF2D_HUMAN ligatin 100 PUA. intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CGAGCACCAGAGGCCATGTTG 0.438 NaN 0 0 0 0.001368 0 12 105 NENF 29937 broad.mit.edu 37 1 212617721 212617721 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:212617721G>A uc001hjd.2 + 3 336 c.279G>A c.(277-279)GGG>GGA p.G93G NENF_uc010ptf.1_RNA NM_013349 NP_037481 Q9UMX5 NENF_HUMAN neuron derived neurotrophic factor precursor 93 Cytochrome b5 heme-binding. extracellular space heme binding 0 all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132) CCTTGACGGGGAAGGACTCCA 0.512 NaN 0 0 0 0.001368 0 12 93 KCTD3 51133 broad.mit.edu 37 1 215792292 215792292 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:215792292G>A uc001hks.2 + 16 1921 c.1627G>A c.(1627-1629)GGA>AGA p.G543R KCTD3_uc001hkt.2_Missense_Mutation_p.G543R|KCTD3_uc010pub.1_Missense_Mutation_p.G441R|KCTD3_uc009xdn.2_Missense_Mutation_p.G267R NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 543 WD 5. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GGAATGTGAGGGATCCAGTAG 0.453 NaN 0 0 0 0.006214 0 8 107 BPNT1 10380 broad.mit.edu 37 1 220233036 220233036 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:220233036G>T uc001hma.2 - 8 942 c.770C>A c.(769-771)GCT>GAT p.A257D BPNT1_uc010pug.1_Missense_Mutation_p.A202D|BPNT1_uc010puh.1_Missense_Mutation_p.A221D|BPNT1_uc001hmb.3_Missense_Mutation_p.A272D NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 257 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) ACCTCCCACAGCATGTAAAAT 0.338 NaN 1 0 1.5842e-08 0.001855 1.69292e-08 14 136 AIDA 64853 broad.mit.edu 37 1 222867175 222867175 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:222867175G>C uc001hnn.2 - 4 450 c.245C>G c.(244-246)TCT>TGT p.S82C AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.S58C NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 82 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 TTCTTCTTGAGACTGTGTGGA 0.313 NaN 0 0 0 0.010729 0 11 26 LYST 1130 broad.mit.edu 37 1 235884050 235884050 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:235884050G>A uc001hxj.2 - 40 9646 c.9471C>T c.(9469-9471)TTC>TTT p.F3157F LYST_uc001hxi.2_Silent_p.F381F NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3157 BEACH. 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) TGAGATCATTGAAGGATCGGC 0.363 NaN Chediak-Higashi_syndrome 0 0 0 0.005524 0 38 112 TUBB8 347688 broad.mit.edu 37 10 95170 95170 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:95170C>T uc001ifi.2 - 1 9 c.9G>A c.(7-9)GAG>GAA p.E3E TUBB8_uc009xhe.2_Silent_p.E3E|TUBB8_uc010pzs.1_Intron NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 3 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TGAGCACGATCTCCCTCATGG 0.672 NaN 0 0 0 0.009096 0 3 8 CUBN 8029 broad.mit.edu 37 10 17107518 17107518 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:17107518C>T uc001ioo.2 - 22 3180 c.3128G>A c.(3127-3129)AGT>AAT p.S1043N NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1043 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTTGCTGCACTGATTGCTTC 0.423 NaN 0 0 0 0.00361 0 54 217 ARMC3 219681 broad.mit.edu 37 10 23250840 23250840 + Nonsense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:23250840G>T uc001irm.3 + 7 648 c.565G>T c.(565-567)GAA>TAA p.E189* ARMC3_uc010qcv.1_Nonsense_Mutation_p.E189*|ARMC3_uc010qcw.1_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 189 ARM 5. binding 0 TAAACTTCAAGAACTAAATGC 0.333 NaN 1 0 0.00198382 0.001984 0.00203612 6 24 AGAP6 414189 broad.mit.edu 37 10 51749116 51749116 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:51749116A>G uc001jix.3 + 2 670 c.272A>G c.(271-273)CAG>CGG p.Q91R NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 91 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 ACAATATTCCAGAGGAACTCT 0.353 NaN 0 0 0 0.001168 0 5 53 C10orf35 219738 broad.mit.edu 37 10 71392625 71392625 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:71392625C>T uc001jpq.3 + 4 346 c.176C>T c.(175-177)GCT>GTT p.A59V NM_145306 NP_660349 Q96D05 CJ035_HUMAN hypothetical protein LOC219738 59 integral to membrane ovary(1)|skin(1) 2 AGGCTGGGTGCTGCTCAGTCC 0.627 NaN 0 0 0 0.001168 0 5 84 LRIT1 26103 broad.mit.edu 37 10 85991892 85991892 + Missense_Mutation SNP G G A rs75121307 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:85991892G>A uc001kcz.1 - 4 1685 c.1663C>T c.(1663-1665)CGC>TGC p.R555C NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 555 Cytoplasmic (Potential). integral to endoplasmic reticulum membrane 0 TTTCGGCAGCGCTTCTGAAGA 0.552 NaN 0 0 0 0.002836 0 36 52 STAMBPL1 57559 broad.mit.edu 37 10 90672881 90672881 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:90672881C>G uc001kfk.2 + 6 867 c.444C>G c.(442-444)CTC>CTG p.L148L STAMBPL1_uc010qmx.1_Silent_p.L148L|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.L148L|STAMBPL1_uc001kfn.2_5'UTR NM_020799 NP_065850 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 148 metal ion binding|metallopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) CTGAAATTCTCAAAAAATTGG 0.408 NaN 0 0 0 0.002836 0 34 84 BTAF1 9044 broad.mit.edu 37 10 93726464 93726464 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:93726464C>T uc001khr.2 + 14 1698 c.1600C>T c.(1600-1602)CGA>TGA p.R534* BTAF1_uc001khs.1_Nonsense_Mutation_p.R204*|BTAF1_uc001kht.1_5'UTR NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 534 HEAT 3. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ATCATCAGTTCGAAGAGCAGC 0.338 NaN 0 0 0 0.002836 0 30 58 CYP2C18 1562 broad.mit.edu 37 10 96454775 96454775 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:96454775C>T uc001kjv.3 + 4 909 c.583C>T c.(583-585)CTT>TTT p.L195F CYP2C18_uc001kjw.3_Missense_Mutation_p.L195F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 195 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TCAGAGGTTTCTTAACTTGAT 0.408 NaN 0 0 0 0.001168 0 6 68 BLNK 29760 broad.mit.edu 37 10 97951794 97951794 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:97951794G>A uc001kls.3 - 17 1484 c.1306C>T c.(1306-1308)CTT>TTT p.L436F BLNK_uc001kme.3_Missense_Mutation_p.L331F|BLNK_uc001klt.3_Missense_Mutation_p.L327F|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.L302F|BLNK_uc001klv.3_Missense_Mutation_p.L279F|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.L413F|BLNK_uc001kly.3_Missense_Mutation_p.L384F|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.L361F|BLNK_uc001kmb.3_Missense_Mutation_p.L232F|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.L354F|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 436 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTGTCAATAAGAACCAAAGGA 0.343 NaN 0 0 0 0.00361 0 43 41 PI4K2A 55361 broad.mit.edu 37 10 99400862 99400862 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:99400862C>G uc001kog.1 + 1 420 c.363C>G c.(361-363)ATC>ATG p.I121M PI4K2A_uc010qoy.1_Intron NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 121 phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) AGCTGGCCATCGAGCGCTGCA 0.711 NaN 0 0 0 0.004482 0 8 28 ADRB1 153 broad.mit.edu 37 10 115804383 115804383 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:115804383C>A uc001lba.2 + 1 578 c.492C>A c.(490-492)TTC>TTA p.F164L NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 164 Cytoplasmic (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) CCTCGCCCTTCCGCTACCAGA 0.572 NaN 1 0 1.08321e-29 0.00361 1.24546e-29 70 89 TRUB1 142940 broad.mit.edu 37 10 116698112 116698112 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:116698112A>C uc001lcd.2 + 1 161 c.100A>C c.(100-102)ACC>CCC p.T34P TRUB1_uc010qsl.1_Intron NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 34 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) AATGGCTGCGACCCCGTCAGC 0.637 NaN 0 0 0 0.007413 0 5 5 PNLIPRP1 5407 broad.mit.edu 37 10 118357370 118357370 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr10:118357370G>T uc001lco.1 + 7 623 c.605G>T c.(604-606)AGT>ATT p.S202I PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S202I|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 202 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AGTTTCGAGAGTACTCCTGAA 0.468 NaN 1 0 4.96729e-08 0.008871 5.25665e-08 20 86 B4GALNT4 338707 broad.mit.edu 37 11 373764 373764 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:373764G>A uc001lpb.2 + 8 728 c.719G>A c.(718-720)CGG>CAG p.R240Q NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 240 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGGCCTCCCGGAGGTACTAC 0.642 NaN 0 0 0 0.00361 0 47 37 KRTAP5-5 439915 broad.mit.edu 37 11 1651190 1651190 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:1651190C>T uc001lty.2 + 1 158 c.120C>T c.(118-120)TCC>TCT p.S40S NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 40 keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) gctgtggctccggctgtggag 0.104 NaN 0 0 0 0.00308 0 4 33 SYT9 143425 broad.mit.edu 37 11 7335059 7335059 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:7335059G>C uc001mfe.2 + 3 1168 c.931G>C c.(931-933)GAC>CAC p.D311H SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 311 Cytoplasmic (Potential).|C2 1. Calcium 2 (By similarity).|Calcium 3 (By similarity).|Calcium 1 (By similarity). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GTACGACTTTGACAGGTTCTC 0.473 NaN 0 0 0 0.00361 0 69 141 PAX6 5080 broad.mit.edu 37 11 31824258 31824258 + Silent SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:31824258A>T uc001mtd.3 - 4 1025 c.135T>A c.(133-135)ATT>ATA p.I45I PAX6_uc001mte.3_Silent_p.I45I|PAX6_uc001mtg.3_Silent_p.I45I|PAX6_uc001mtf.3_Silent_p.I45I|PAX6_uc001mth.3_Silent_p.I45I|PAX6_uc009yjr.2_Silent_p.I45I NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 45 Paired. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) TCACCTGCAGAATTCGGGAAA 0.617 NaN Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 0 0 0 0.004007 0 16 8 OR4C46 119749 broad.mit.edu 37 11 51515813 51515813 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:51515813G>C uc010ric.1 + 1 532 c.532G>C c.(532-534)GAT>CAT p.D178H NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTTATGTGTGATCTGAACCC 0.453 NaN 0 0 0 0.001368 0 12 192 OR8H2 390151 broad.mit.edu 37 11 55872777 55872777 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:55872777C>A uc010riy.1 + 1 259 c.259C>A c.(259-261)CTG>ATG p.L87M NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) AGCGAACTTACTGACTTCCAA 0.438 NaN HNSCC(53;0.14) 1 0 1.66425e-11 0.004878 1.83235e-11 37 632 RTN4RL2 349667 broad.mit.edu 37 11 57243961 57243961 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:57243961C>G uc010rjt.1 + 3 840 c.840C>G c.(838-840)CGC>CGG p.R280R NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 280 LRRCT. axon regeneration anchored to plasma membrane receptor activity 0 AGCGCGCGCGCGTGTCCAGCT 0.716 NaN 0 0 0 0.001168 0 5 4 MS4A14 84689 broad.mit.edu 37 11 60183468 60183468 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:60183468C>T uc001npj.2 + 5 1592 c.1027C>T c.(1027-1029)CAT>TAT p.H343Y MS4A14_uc001npi.2_Missense_Mutation_p.H231Y|MS4A14_uc001npn.2_Missense_Mutation_p.H81Y|MS4A14_uc001npk.2_Missense_Mutation_p.H326Y|MS4A14_uc001npl.2_Missense_Mutation_p.H81Y|MS4A14_uc001npm.2_Missense_Mutation_p.H81Y NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 343 integral to membrane receptor activity breast(1) 1 TACATCATCCCATGTCAAACA 0.338 NaN 0 0 0 0.006214 0 10 69 VWCE 220001 broad.mit.edu 37 11 61058340 61058340 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:61058340G>C uc001nra.2 - 4 634 c.355C>G c.(355-357)CAG>GAG p.Q119E VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 119 extracellular region calcium ion binding ovary(1) 1 GCCACCTCCTGACAGCCTCCA 0.622 NaN 0 0 0 0.006999 0 40 70 TMEM179B 374395 broad.mit.edu 37 11 62557492 62557492 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:62557492C>T uc001nvd.3 + 5 663 c.633C>T c.(631-633)CTC>CTT p.L211L NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 211 integral to membrane 0 CAGATGCTCTCGTTGGGTCAC 0.592 NaN 0 0 0 0.00361 0 64 107 FAU 2197 broad.mit.edu 37 11 64889086 64889086 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:64889086G>A uc001ocx.2 - 3 213 c.106C>T c.(106-108)CCG>TCG p.P36S FAU_uc001ocy.1_Missense_Mutation_p.P36S|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank NM_001997 NP_001988 P35544 UBIM_HUMAN ubiquitin-like protein fubi and ribosomal 36 0 TGATCTTCCGGGGCAATGCCC 0.612 NaN 0 0 0 0.00308 0 8 116 EHBP1L1 254102 broad.mit.edu 37 11 65349507 65349507 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:65349507C>T uc001oeo.3 + 9 1629 c.1364C>T c.(1363-1365)CCT>CTT p.P455L EHBP1L1_uc001oep.1_Intron NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 455 central_nervous_system(1) 1 AGGGGGACCCCTGAGGCTCCT 0.642 NaN 0 0 0 0.00278 0 19 81 NPAS4 266743 broad.mit.edu 37 11 66189921 66189921 + Splice_Site SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:66189921G>A uc001ohx.1 + 3 504 c.328_splice c.e3-1 p.V110_splice NPAS4_uc010rpc.1_Splice_Site NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 transcription, DNA-dependent DNA binding|signal transducer activity 0 CCTCCCTCCAGGTGGACCTGG 0.527 NaN 0 0 0 0.00361 0 63 206 ACTN3 89 broad.mit.edu 37 11 66325335 66325335 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:66325335C>G uc001oio.1 + 10 1081 c.1063C>G c.(1063-1065)CTG>GTG p.L355V ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 355 Spectrin 1. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 CTTCAACACACTGCAGACCAA 0.587 NaN 0 0 0 0.001168 0 5 102 CCDC87 55231 broad.mit.edu 37 11 66359149 66359149 + Silent SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:66359149T>A uc001oiq.3 - 1 1406 c.1338A>T c.(1336-1338)GTA>GTT p.V446V CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 446 ovary(1)|skin(1) 2 CAGAGACCCGTACGGCAGCCG 0.532 NaN 0 0 0 0.004007 0 16 265 PITPNM1 9600 broad.mit.edu 37 11 67269467 67269467 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:67269467C>T uc001olx.2 - 4 695 c.506G>A c.(505-507)CGA>CAA p.R169Q PITPNM1_uc001oly.2_Missense_Mutation_p.R169Q|PITPNM1_uc001olz.2_Missense_Mutation_p.R169Q NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 169 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity p.R169R(1) lung(2)|central_nervous_system(1) 3 CAGTGGCCCTCGGCCCGTCTT 0.612 NaN 0 0 0 0.006999 0 38 85 PITPNM1 9600 broad.mit.edu 37 11 67269826 67269826 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:67269826C>T uc001olx.2 - 3 541 c.352G>A c.(352-354)GAT>AAT p.D118N PITPNM1_uc001oly.2_Missense_Mutation_p.D118N|PITPNM1_uc001olz.2_Missense_Mutation_p.D118N NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 118 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 TGCCCCCCATCAGGCAGGTAA 0.607 NaN 0 0 0 0.00361 0 68 199 IGHMBP2 3508 broad.mit.edu 37 11 68703726 68703726 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:68703726A>G uc001ook.1 + 13 1880 c.1778A>G c.(1777-1779)GAG>GGG p.E593G IGHMBP2_uc001ool.1_Missense_Mutation_p.E217G|IGHMBP2_uc001oom.1_Missense_Mutation_p.E171G NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 593 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTCTTGCTGAGGACCGGAGG 0.532 NaN 0 0 0 0.010818 0 33 410 GRM5 2915 broad.mit.edu 37 11 88386506 88386506 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:88386506G>C uc001pcq.2 - 3 1177 c.977C>G c.(976-978)ACA>AGA p.T326R GRM5_uc009yvm.2_Missense_Mutation_p.T326R NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 326 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGCTTGATTGTGATGCCACC 0.453 NaN 0 0 0 0.010729 0 11 74 AMOTL1 154810 broad.mit.edu 37 11 94533301 94533301 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:94533301C>A uc001pfb.2 + 3 1115 c.945C>A c.(943-945)TTC>TTA p.F315L AMOTL1_uc001pfc.2_Missense_Mutation_p.F265L NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 315 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AGTACCCCTTCAAGACCAAGC 0.597 NaN 1 0 2.21704e-12 0.00278 2.45088e-12 24 165 BTG4 54766 broad.mit.edu 37 11 111369384 111369384 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:111369384C>G uc001plj.2 - 2 303 c.118G>C c.(118-120)GAA>CAA p.E40Q BTG4_uc001plk.2_Missense_Mutation_p.E40Q NM_017589 NP_060059 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 40 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation 0 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) CTGTATGTTTCAAACAAGATC 0.408 NaN 0 0 0 0.004656 0 28 10 GRAMD1B 57476 broad.mit.edu 37 11 123483472 123483472 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:123483472C>G uc001pyx.2 + 14 1823 c.1494C>G c.(1492-1494)GTC>GTG p.V498V GRAMD1B_uc001pyw.2_Silent_p.V505V|GRAMD1B_uc010rzw.1_Silent_p.V458V|GRAMD1B_uc010rzx.1_Silent_p.V458V|GRAMD1B_uc001pyy.2_Silent_p.V189V NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 498 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TCCTCAGGGTCTCCACAGAGC 0.522 NaN 0 0 0 0.00499 0 16 6 ROBO3 64221 broad.mit.edu 37 11 124747869 124747869 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:124747869G>A uc001qbc.2 + 21 3215 c.3023G>A c.(3022-3024)AGG>AAG p.R1008K ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.R57K|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1008 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CAGACGGCCAGGGGCACGGCC 0.597 NaN 0 0 0 0.004672 0 3 17 SLC6A12 6539 broad.mit.edu 37 12 306659 306659 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:306659A>C uc001qhz.2 - 11 1502 c.959T>G c.(958-960)ATC>AGC p.I320S SLC6A12_uc001qhx.2_5'UTR|SLC6A12_uc001qhy.2_5'UTR|SLC6A12_uc001qia.2_Missense_Mutation_p.I320S|SLC6A12_uc001qib.2_Missense_Mutation_p.I320S|SLC6A12_uc009zdh.1_Missense_Mutation_p.I320S NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 320 Helical; Name=7; (Potential). cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCAGAGGGCGATGCAGTCCCT 0.378 NaN 0 0 0 0.000602 0 4 36 CCDC77 84318 broad.mit.edu 37 12 550970 550970 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:550970C>A uc001qig.2 + 13 1531 c.1351C>A c.(1351-1353)CTT>ATT p.L451I CCDC77_uc009zdk.2_Missense_Mutation_p.L419I|CCDC77_uc010sdp.1_Missense_Mutation_p.L419I|CCDC77_uc010sdq.1_Missense_Mutation_p.L419I NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 451 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AAACCAGGATCTTGCCCTTCT 0.433 NaN 1 0 7.03913e-09 0.001368 7.59668e-09 13 116 WNK1 65125 broad.mit.edu 37 12 994879 994879 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:994879G>A uc001qio.3 + 19 5416 c.4909G>A c.(4909-4911)GAA>AAA p.E1637K WNK1_uc001qip.3_Missense_Mutation_p.E1390K|WNK1_uc001qir.3_Missense_Mutation_p.E810K NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1637 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) TCATTGTCCTGAAGTAGATTC 0.473 NaN 0 0 0 0.00361 0 71 68 WNK1 65125 broad.mit.edu 37 12 994963 994963 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:994963G>A uc001qio.3 + 19 5500 c.4993G>A c.(4993-4995)GAA>AAA p.E1665K WNK1_uc001qip.3_Missense_Mutation_p.E1418K|WNK1_uc001qir.3_Missense_Mutation_p.E838K NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1665 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) TCTGTTCAGTGAACACAGCTC 0.478 NaN 0 0 0 0.00361 0 57 53 DYRK4 8798 broad.mit.edu 37 12 4722735 4722735 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:4722735T>C uc001qmx.2 + 13 1539 c.1379T>C c.(1378-1380)GTT>GCT p.V460A DYRK4_uc001qmy.1_Missense_Mutation_p.V459A|DYRK4_uc001qmz.1_Missense_Mutation_p.V173A|DYRK4_uc001qna.1_Missense_Mutation_p.V96A|DYRK4_uc010ser.1_Missense_Mutation_p.V97A NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 460 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) ACGAAGCATGTTCAGCATTCA 0.493 NaN 0 0 0 0.008291 0 10 89 GRIN2B 2904 broad.mit.edu 37 12 13717440 13717440 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:13717440A>C uc001rbt.2 - 13 2911 c.2732T>G c.(2731-2733)CTG>CGG p.L911R NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 911 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACACCAGACAGGTTAGCCAT 0.582 NaN 0 0 0 0.00361 0 65 270 SOX5 6660 broad.mit.edu 37 12 23999053 23999053 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:23999053T>A uc001rfw.2 - 3 447 c.345A>T c.(343-345)GAA>GAT p.E115D SOX5_uc001rfx.2_Missense_Mutation_p.E102D|SOX5_uc001rfy.2_Missense_Mutation_p.E102D|SOX5_uc010siv.1_Missense_Mutation_p.E102D|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E67D|SOX5_uc001rga.2_Missense_Mutation_p.E80D NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 115 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GTCGCCCACCTTCTTCTGCCT 0.478 NaN 0 0 0 0.00245 0 13 155 MLL2 8085 broad.mit.edu 37 12 49431524 49431525 + Missense_Mutation DNP TC TC CA TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 TC CA TC TC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:49431524_49431525TC>CA uc001rta.3 - 34 9614_9615 c.9614_9615GA>TG c.(9613-9615)GGA>GTG p.G3205V NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3205 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 GGGAGGATCCTCCTGGGCCACT 0.599 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.004672 0 4 21 ERBB3 2065 broad.mit.edu 37 12 56480394 56480394 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:56480394G>C uc001sjh.2 + 4 694 c.501G>C c.(499-501)GTG>GTC p.V167V ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.V108V|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 167 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGGACATCGTGAGGGACCGAG 0.493 NaN 0 0 0 0.012213 0 30 254 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:57485446T>C uc001smz.2 + 2 1000 c.622T>C c.(622-624)TTC>CTC p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCGCCCCCCTTCTCCCCCCC 0.716 NaN 0 0 0 0.008871 0 7 51 PIP4K2C 79837 broad.mit.edu 37 12 57985171 57985171 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:57985171C>T uc001sou.2 + 1 230 c.99C>T c.(97-99)TTC>TTT p.F33F PIP4K2C_uc001sot.2_Silent_p.F33F|PIP4K2C_uc010srs.1_Silent_p.F33F|PIP4K2C_uc010srt.1_Silent_p.F33F NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 33 cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) AGAAGCATTTCGTGCAGCAGA 0.662 NaN 0 0 0 0.00361 0 101 258 IRAK3 11213 broad.mit.edu 37 12 66639035 66639035 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:66639035T>C uc001sth.2 + 11 1409 c.1307T>C c.(1306-1308)ATG>ACG p.M436T IRAK3_uc010ssy.1_Missense_Mutation_p.M375T NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 436 Protein kinase. 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) AGACCATCAATGGATGAAGTG 0.418 NaN 0 0 0 0.00361 0 77 372 IFNG 3458 broad.mit.edu 37 12 68553296 68553296 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:68553296G>C uc001stw.1 - 1 226 c.100C>G c.(100-102)CTT>GTT p.L34V NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 34 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) TATTTCTTAAGGTTTTCTGCT 0.363 NaN 0 0 0 0.000602 0 5 51 CORO1C 23603 broad.mit.edu 37 12 109095064 109095064 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:109095064G>A uc001tnj.2 - 2 127 c.31C>T c.(31-33)CGG>TGG p.R11W CORO1C_uc009zva.2_Missense_Mutation_p.R64W|CORO1C_uc010sxf.1_Missense_Mutation_p.R11W NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 11 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 AATACATGCCGAAACTTGCTC 0.443 NaN 0 0 0 0.010729 0 10 165 KNTC1 9735 broad.mit.edu 37 12 123072359 123072359 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:123072359T>G uc001ucv.2 + 39 3995 c.3832T>G c.(3832-3834)TCA>GCA p.S1278A KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1278 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGTGGTTGGTTCATTTGGTAC 0.423 NaN 0 0 0 0.009096 0 3 37 KNTC1 9735 broad.mit.edu 37 12 123078909 123078909 + Silent SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:123078909A>C uc001ucv.2 + 43 4495 c.4332A>C c.(4330-4332)ACA>ACC p.T1444T KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1444 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ATATGGACACAAGCCTCATTT 0.323 NaN 0 0 0 0.003954 0 24 42 MPHOSPH9 10198 broad.mit.edu 37 12 123687540 123687540 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:123687540C>A uc001uel.2 - 6 1063 c.956G>T c.(955-957)AGA>ATA p.R319I MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 319 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) AAAGGATATTCTGTCATCAAG 0.463 NaN 1 0 2.01807e-28 0.00361 2.31547e-28 52 177 GTF2H3 2967 broad.mit.edu 37 12 124144458 124144458 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:124144458C>A uc001ufo.1 + 11 827 c.801C>A c.(799-801)GTC>GTA p.V267V GTF2H3_uc010tau.1_Silent_p.V226V NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 267 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) TTGGTTATGTCTGTTCTGTGT 0.403 NaN NER 1 0 1.45844e-13 0.002836 1.62214e-13 35 62 ULK1 8408 broad.mit.edu 37 12 132379547 132379547 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:132379547A>G uc001uje.2 + 1 269 c.1A>G c.(1-3)ATG>GTG p.M1V NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 1 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) cgccTGCGCCATGGAGCCCGG 0.373 NaN 0 0 0 0.000602 0 4 7 EP400 57634 broad.mit.edu 37 12 132504716 132504716 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:132504716G>A uc001ujn.2 + 21 4435 c.4400G>A c.(4399-4401)CGA>CAA p.R1467Q EP400_uc001ujl.2_Missense_Mutation_p.R1466Q|EP400_uc001ujm.2_Missense_Mutation_p.R1467Q NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1503 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCCCGCTTCGAGGACGGCCG 0.652 NaN 0 0 0 0.007291 0 27 94 ATP12A 479 broad.mit.edu 37 13 25276099 25276099 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:25276099C>A uc001upp.2 + 14 2095 c.1908C>A c.(1906-1908)CCC>CCA p.P636P ATP12A_uc010aaa.2_Silent_p.P642P NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 636 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTGATCATCCCATCACAGCCA 0.478 NaN 1 0 7.93312e-07 0.00245 8.33054e-07 13 154 ATP12A 479 broad.mit.edu 37 13 25281419 25281419 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:25281419C>T uc001upp.2 + 17 2528 c.2341C>T c.(2341-2343)CGC>TGC p.R781C ATP12A_uc010aaa.2_Missense_Mutation_p.R787C NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 781 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTGCCTAGGTCGCCTGATCTT 0.532 NaN 0 0 0 0.00361 0 52 130 BRCA2 675 broad.mit.edu 37 13 32936814 32936814 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:32936814C>T uc001uub.1 + 17 8187 c.7960C>T c.(7960-7962)CTT>TTT p.L2654F NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2654 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGGGTGCTTCTTCAACTAAA 0.373 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.00333 0 22 25 BRCA2 675 broad.mit.edu 37 13 32936817 32936817 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:32936817C>T uc001uub.1 + 17 8190 c.7963C>T c.(7963-7965)CAA>TAA p.Q2655* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2655 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGTGCTTCTTCAACTAAAATA 0.378 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.00333 0 22 25 BRCA2 675 broad.mit.edu 37 13 32937596 32937596 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:32937596C>T uc001uub.1 + 18 8484 c.8257C>T c.(8257-8259)CTT>TTT p.L2753F NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2753 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GAAGATTATTCTTCATGGAGC 0.438 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.012319 0 21 65 KLF5 688 broad.mit.edu 37 13 73636804 73636804 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:73636804C>G uc001vje.2 + 2 1391 c.1067C>G c.(1066-1068)CCT>CGT p.P356R KLF5_uc001vjd.2_Missense_Mutation_p.P265R NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 356 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) AACATCCAACCTGTCAGATAC 0.453 NaN 0 0 0 0.007413 0 18 89 DCT 1638 broad.mit.edu 37 13 95121217 95121217 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:95121217A>C uc001vlv.3 - 2 805 c.378T>G c.(376-378)ATT>ATG p.I126M DCT_uc010afh.2_Missense_Mutation_p.I126M NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 126 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TGTTCTGCCGAATCACTGGTG 0.507 NaN 0 0 0 0.00361 0 94 202 RASA3 22821 broad.mit.edu 37 13 114778667 114778667 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr13:114778667G>A uc001vui.2 - 15 1594 c.1463C>T c.(1462-1464)GCG>GTG p.A488V RASA3_uc010tkk.1_Missense_Mutation_p.A456V|RASA3_uc001vuj.2_Missense_Mutation_p.A105V NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 488 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AATGGCGGGCGCAAAGAACCT 0.617 NaN 0 0 0 0.003954 0 18 6 OR4Q3 441669 broad.mit.edu 37 14 20215775 20215775 + Silent SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:20215775T>C uc010tkt.1 + 1 189 c.189T>C c.(187-189)TTT>TTC p.F63F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTATTATTTTTTAGGTCATC 0.413 NaN 0 0 0 0.00361 0 59 143 ACIN1 22985 broad.mit.edu 37 14 23533347 23533347 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:23533347G>T uc001wit.3 - 12 3064 c.2736C>A c.(2734-2736)GAC>GAA p.D912E ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.D154E|ACIN1_uc001wiq.3_Missense_Mutation_p.D154E|ACIN1_uc001wir.3_Missense_Mutation_p.D185E|ACIN1_uc001wis.3_Missense_Mutation_p.D593E|ACIN1_uc010akg.2_Missense_Mutation_p.D899E NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 912 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCAGCCCCTTGTCATGGGTCC 0.562 NaN 1 0 1.58986e-06 0.008291 1.6631e-06 11 170 EFS 10278 broad.mit.edu 37 14 23829056 23829056 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:23829056C>T uc001wjo.2 - 4 1239 c.631G>A c.(631-633)GAG>AAG p.E211K EFS_uc001wjp.2_Missense_Mutation_p.E118K|EFS_uc010tnm.1_Intron NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 211 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGCCCCGGCTCCCGGCCTCCT 0.617 NaN 0 0 0 0.010818 0 31 137 JPH4 84502 broad.mit.edu 37 14 24045009 24045009 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:24045009G>C uc001wkq.2 - 4 1954 c.1036C>G c.(1036-1038)CTC>GTC p.L346V JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.L346V|JPH4_uc001wks.2_Missense_Mutation_p.L346V NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 346 Cytoplasmic (Potential).|MORN 8. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AGAGGCAGGAGACTGCGGACG 0.731 NaN 0 0 0 0.001984 0 5 4 PNN 5411 broad.mit.edu 37 14 39646875 39646875 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:39646875G>A uc001wuw.3 + 5 503 c.406G>A c.(406-408)GAA>AAA p.E136K NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 136 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AAATATGGATGAAAAGGGAAA 0.403 NaN 0 0 0 0.00361 0 57 134 MDGA2 161357 broad.mit.edu 37 14 47504376 47504376 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:47504376C>G uc001wwj.3 - 8 1646 c.1450G>C c.(1450-1452)GTT>CTT p.V484L MDGA2_uc001wwi.3_Missense_Mutation_p.V255L|MDGA2_uc010ani.2_Missense_Mutation_p.V44L NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 484 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GGCATTGCAACTTCTTTATCC 0.418 NaN 0 0 0 0.00361 0 57 108 NIN 51199 broad.mit.edu 37 14 51288736 51288736 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:51288736G>C uc001wym.2 - 3 230 c.39C>G c.(37-39)CTC>CTG p.L13L NIN_uc001wyi.2_Silent_p.L13L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L13L|NIN_uc010tqp.1_Intron|NIN_uc001wyo.2_Silent_p.L13L|NIN_uc001wyp.1_Intron NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 13 EF-hand 1. 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) ACAGCTCCTTGAGTCGGGCCT 0.587 NaN T PDGFRB MPD 0 0 0 0.00361 0 147 301 DAAM1 23002 broad.mit.edu 37 14 59791171 59791171 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:59791171A>T uc001xdz.1 + 8 1113 c.988A>T c.(988-990)AGG>TGG p.R330W DAAM1_uc001xea.1_Missense_Mutation_p.R330W|DAAM1_uc001xeb.1_Missense_Mutation_p.R330W NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 330 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) AACATTAGATAGGTAAGTCAG 0.289 NaN 0 0 0 0.001984 0 7 27 C14orf115 55237 broad.mit.edu 37 14 74825233 74825233 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:74825233G>T uc001xpw.3 + 2 1938 c.1747G>T c.(1747-1749)GAT>TAT p.D583Y NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 583 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GGCTGGCAGGGATGTGACAGC 0.652 NaN 1 0 0.00829132 0.008291 0.0084463 11 108 KIAA1409 57578 broad.mit.edu 37 14 94004479 94004479 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:94004479C>T uc001ybv.1 + 9 819 c.736C>T c.(736-738)CAC>TAC p.H246Y KIAA1409_uc001ybs.1_Missense_Mutation_p.H246Y|KIAA1409_uc001ybu.1_Missense_Mutation_p.H184Y NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 423 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGCGGAGACTCACCTCTATCA 0.592 NaN 0 0 0 0.006214 0 10 59 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:33962623T>G uc001zhi.2 + 38 5796 c.5726T>G c.(5725-5727)GTT>GGT p.V1909G RYR3_uc010bar.2_Missense_Mutation_p.V1909G NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.398 NaN 0 0 0 0.010818 0 16 24 RYR3 6263 broad.mit.edu 37 15 34080596 34080596 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:34080596C>T uc001zhi.2 + 67 9837 c.9767C>T c.(9766-9768)GCG>GTG p.A3256V RYR3_uc010bar.2_Missense_Mutation_p.A3256V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3256 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) GACGAGTTCGCGGTCCTCTGC 0.567 NaN 0 0 0 0.00245 0 15 86 RPUSD2 27079 broad.mit.edu 37 15 40861663 40861663 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:40861663G>T uc001zmd.1 + 1 127 c.127G>T c.(127-129)GTT>TTT p.V43F NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 43 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) GTCTACCCAGGTTGGGACAGA 0.627 NaN 1 0 1.10923e-09 0.00278 1.20906e-09 25 40 CASC5 57082 broad.mit.edu 37 15 40913273 40913273 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:40913273A>T uc010bbs.1 + 11 1050 c.889A>T c.(889-891)ACT>TCT p.T297S CASC5_uc010ucq.1_Missense_Mutation_p.T121S|CASC5_uc001zme.2_Missense_Mutation_p.T271S|CASC5_uc010bbt.1_Missense_Mutation_p.T271S NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 297 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CAGTAATATTACTAGGCTCTT 0.373 NaN 0 0 0 0.009096 0 4 26 MGA 23269 broad.mit.edu 37 15 42003201 42003201 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:42003201C>T uc001zog.1 + 8 2829 c.2738C>T c.(2737-2739)TCA>TTA p.S913L MGA_uc010ucy.1_Missense_Mutation_p.S913L|MGA_uc010ucz.1_Missense_Mutation_p.S913L NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 913 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CGAACTAAATCATCTTATAAA 0.403 NaN 0 0 0 0.004878 0 38 101 SPG11 80208 broad.mit.edu 37 15 44951440 44951440 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:44951440G>A uc001ztx.2 - 3 535 c.504C>T c.(502-504)ATC>ATT p.I168I SPG11_uc010ueh.1_Silent_p.I168I|SPG11_uc010uei.1_Silent_p.I168I|SPG11_uc001zua.1_Silent_p.I168I NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 168 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CACATTTGTTGATGAACAGTA 0.358 NaN 0 0 0 0.00499 0 16 53 SLC27A2 11001 broad.mit.edu 37 15 50526106 50526106 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:50526106G>C uc001zxw.2 + 9 1829 c.1597G>C c.(1597-1599)GAA>CAA p.E533Q SLC27A2_uc010bes.2_Missense_Mutation_p.E480Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.E298Q NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 533 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CAAAATGAAAGAAAACCATGA 0.373 NaN 0 0 0 0.001984 0 7 40 HERC1 8925 broad.mit.edu 37 15 64017588 64017588 + Silent SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:64017588A>C uc002amp.2 - 18 3619 c.3471T>G c.(3469-3471)CTT>CTG p.L1157L HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1157 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 GGGAGCCCTGAAGCATGCCAC 0.512 NaN 0 0 0 0.006122 0 19 110 EDC3 80153 broad.mit.edu 37 15 74963915 74963915 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:74963915T>G uc002ayn.2 - 6 853 c.365A>C c.(364-366)GAT>GCT p.D122A EDC3_uc002ayo.2_Missense_Mutation_p.D122A|EDC3_uc002aym.2_Missense_Mutation_p.D122A NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 122 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 GCTCTTCACATCTGTCCTCTT 0.522 NaN 0 0 0 0.004482 0 9 146 EFTUD1 79631 broad.mit.edu 37 15 82443993 82443993 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:82443993G>A uc002bgt.1 - 18 2971 c.2802C>T c.(2800-2802)TGC>TGT p.C934C EFTUD1_uc002bgs.1_Silent_p.C305C|EFTUD1_uc002bgu.1_Silent_p.C883C NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 934 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 AGGCCTCAGAGCAGCCATCTT 0.458 NaN 0 0 0 0.001855 0 14 145 ADAMTSL3 57188 broad.mit.edu 37 15 84581959 84581959 + Nonsense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr15:84581959G>T uc002bjz.3 + 16 2040 c.1816G>T c.(1816-1818)GAG>TAG p.E606* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E606*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E606* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 606 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAGCTGCCCGAGGAAGAGTG 0.637 NaN 1 0 9.16793e-09 0.00499 9.83567e-09 18 66 NPRL3 8131 broad.mit.edu 37 16 162645 162645 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:162645C>T uc002cfr.2 - 6 622 c.523G>A c.(523-525)GAT>AAT p.D175N NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_5'UTR|NPRL3_uc010uub.1_Missense_Mutation_p.D150N|NPRL3_uc010uuc.1_Missense_Mutation_p.D97N|NPRL3_uc002cfs.1_Missense_Mutation_p.D150N NM_001077350 NP_001070818 Q12980 NPRL3_HUMAN conserved gene telomeric to alpha globin cluster 175 protein binding ovary(1) 1 GACACCTCATCCTGGAGCGCC 0.657 NaN 0 0 0 0.001984 0 7 19 ATF7IP2 80063 broad.mit.edu 37 16 10566012 10566012 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:10566012G>A uc002czu.2 + 8 1625 c.1398G>A c.(1396-1398)TTG>TTA p.L466L ATF7IP2_uc002czv.2_Silent_p.L466L|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Silent_p.L10L|ATF7IP2_uc002czw.2_Silent_p.L466L|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GTCCTAATTTGACAACTCCAA 0.284 NaN 0 0 0 0.001368 0 11 15 XYLT1 64131 broad.mit.edu 37 16 17232337 17232337 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:17232337C>A uc002dfa.2 - 8 1724 c.1639G>T c.(1639-1641)GAC>TAC p.D547Y NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 547 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 AGGTTGTTGTCCACCATGGTG 0.597 NaN 1 0 7.93312e-07 0.00245 8.33054e-07 11 102 DNAH3 55567 broad.mit.edu 37 16 21133386 21133386 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:21133386G>A uc010vbe.1 - 10 1464 c.1464C>T c.(1462-1464)ATC>ATT p.I488I DNAH3_uc002die.2_Silent_p.I459I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 488 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GTTTGATCATGATTAGCTGAG 0.393 NaN 0 0 0 0.008361 0 31 70 EEF2K 29904 broad.mit.edu 37 16 22237249 22237249 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:22237249G>A uc002dki.2 + 2 684 c.199G>A c.(199-201)GAG>AAG p.E67K EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 67 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) AACAAAAAGTGAGCGGTATAG 0.507 NaN 0 0 0 0.007291 0 28 66 ZNF629 23361 broad.mit.edu 37 16 30795792 30795792 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:30795792C>G uc002dzs.1 - 2 220 c.12G>C c.(10-12)GAG>GAC p.E4D NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) ACAGCGCAGTCTCGGGCTCCA 0.632 NaN 0 0 0 0.000602 0 5 6 ZNF629 23361 broad.mit.edu 37 16 30795800 30795800 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:30795800C>T uc002dzs.1 - 2 212 c.4G>A c.(4-6)GAG>AAG p.E2K NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GTCTCGGGCTCCATCCCAGAG 0.632 NaN 0 0 0 0.004672 0 3 6 ORAI3 93129 broad.mit.edu 37 16 30964944 30964944 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:30964944G>C uc002eac.2 + 2 873 c.667G>C c.(667-669)GAG>CAG p.E223Q NM_152288 NP_689501 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 223 integral to membrane protein binding 0 GTCCCAAGCTGAGCCAGCCTG 0.672 NaN OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012213 0 34 373 SETD1A 9739 broad.mit.edu 37 16 30990892 30990892 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:30990892C>A uc002ead.1 + 14 4471 c.3785C>A c.(3784-3786)ACC>AAC p.T1262N NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1262 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CTGGCCCTGACCCCTGCCCGG 0.726 NaN 1 0 0.00621372 0.006214 0.00635361 10 36 FUS 2521 broad.mit.edu 37 16 31195261 31195261 + Nonsense_Mutation SNP C C A rs73530286 byFrequency TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:31195261C>A uc002ebf.2 + 4 356 c.273C>A c.(271-273)TAC>TAA p.Y91* FUS_uc002ebe.1_Nonsense_Mutation_p.Y91*|FUS_uc002ebh.2_Nonsense_Mutation_p.Y90*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Y91*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 91 Gln/Gly/Ser/Tyr-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) AATCGTCTTACGGGCAGCAGT 0.572 NaN T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 1 0 4.09656e-53 0.00361 4.80135e-53 133 199 RSPRY1 89970 broad.mit.edu 37 16 57241994 57241994 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:57241994G>A uc002elb.2 + 3 653 c.375G>A c.(373-375)ATG>ATA p.M125I RSPRY1_uc002elc.2_Missense_Mutation_p.M125I|RSPRY1_uc002eld.2_Missense_Mutation_p.M125I NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 125 extracellular region zinc ion binding ovary(1) 1 CCTATTCAATGATAACATTAC 0.294 NaN 0 0 0 0.00361 0 52 110 GPR56 9289 broad.mit.edu 37 16 57687989 57687989 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:57687989T>C uc002emb.2 + 6 1004 c.712T>C c.(712-714)TGG>CGG p.W238R GPR56_uc002elz.1_Missense_Mutation_p.W68R|GPR56_uc002ema.1_Missense_Mutation_p.W63R|GPR56_uc002emc.2_Missense_Mutation_p.W238R|GPR56_uc002emf.2_Missense_Mutation_p.W238R|GPR56_uc010vhs.1_Missense_Mutation_p.W238R|GPR56_uc002emd.2_Missense_Mutation_p.W238R|GPR56_uc002eme.2_Missense_Mutation_p.W238R|GPR56_uc010vht.1_Missense_Mutation_p.W243R|GPR56_uc002emg.3_Missense_Mutation_p.W238R|GPR56_uc010vhu.1_Missense_Mutation_p.W63R NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 238 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 CGCCACGGTGTGGAAGCTCCA 0.652 NaN 0 0 0 0.004007 0 14 114 SMPD3 55512 broad.mit.edu 37 16 68405651 68405651 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:68405651A>T uc002ewa.2 - 3 856 c.434T>A c.(433-435)TTT>TAT p.F145Y SMPD3_uc010cfe.2_Missense_Mutation_p.F145Y|SMPD3_uc010vlh.1_Missense_Mutation_p.F145Y NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 145 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) TTGGGTGTTAAAAAGGTTGTT 0.592 NaN 0 0 0 0.006214 0 9 26 LRRC50 123872 broad.mit.edu 37 16 84203923 84203923 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:84203923G>A uc002fhl.3 + 8 1670 c.1489G>A c.(1489-1491)GAG>AAG p.E497K LRRC50_uc010vnw.1_Missense_Mutation_p.E261K NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 497 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CCTCCCAGCTGAGGCCCCACC 0.627 NaN Kartagener_syndrome 0 0 0 0.010818 0 32 70 KIAA0513 9764 broad.mit.edu 37 16 85100858 85100858 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:85100858C>T uc002fiu.2 + 2 401 c.181C>T c.(181-183)CCC>TCC p.P61S KIAA0513_uc002fis.3_Missense_Mutation_p.P61S|KIAA0513_uc010voj.1_Missense_Mutation_p.P61S|KIAA0513_uc002fit.2_Missense_Mutation_p.P61S NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 61 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) GGGCGAGTCGCCCTCGCACCC 0.632 NaN 0 0 0 0.001168 0 6 98 KIAA0513 9764 broad.mit.edu 37 16 85114926 85114926 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:85114926C>G uc002fiu.2 + 9 1128 c.908C>G c.(907-909)ACT>AGT p.T303S KIAA0513_uc010voj.1_Missense_Mutation_p.T303S NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 303 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) TGCAGGCACACTCTGAGGTTC 0.567 NaN 0 0 0 0.008871 0 19 22 GAS8 2622 broad.mit.edu 37 16 90099213 90099213 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr16:90099213C>G uc002fqi.1 + 4 498 c.376C>G c.(376-378)CTG>GTG p.L126V GAS8_uc010vps.1_Missense_Mutation_p.L101V|GAS8_uc002fqh.2_Missense_Mutation_p.L43V|GAS8_uc010vpt.1_Missense_Mutation_p.L126V|GAS8_uc010vpu.1_Missense_Mutation_p.L43V|GAS8_uc010vpv.1_Missense_Mutation_p.L97V|GAS8_uc010cjc.1_Missense_Mutation_p.L43V|GAS8_uc010vpw.1_Missense_Mutation_p.L43V|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 126 Microtubule-binding. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AGTCATGAAGCTGGCACAGAA 0.552 NaN 0 0 0 0.006214 0 9 166 SERPINF1 5176 broad.mit.edu 37 17 1680704 1680704 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:1680704C>G uc002ftl.2 + 8 1378 c.1221C>G c.(1219-1221)CTC>CTG p.L407L SERPINF1_uc010cjw.2_Silent_p.L220L NM_002615 NP_002606 P36955 PEDF_HUMAN serine (or cysteine) proteinase inhibitor, clade 407 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity ovary(1) 1 GGGCCCTTCTCTTCATTGGCA 0.542 NaN 0 0 0 0.009535 0 29 202 NEURL4 84461 broad.mit.edu 37 17 7222372 7222372 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:7222372G>C uc002gga.1 - 22 3688 c.3681C>G c.(3679-3681)CTC>CTG p.L1227L NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.L1225L NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1227 NHR 6. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TACTCACCTTGAGACCGTTGT 0.627 NaN 0 0 0 0.00308 0 7 64 DNAH2 146754 broad.mit.edu 37 17 7637562 7637562 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:7637562G>A uc002giu.1 + 5 704 c.690G>A c.(688-690)ATG>ATA p.M230I DNAH2_uc002git.2_Missense_Mutation_p.M230I|DNAH2_uc010vuk.1_Missense_Mutation_p.M230I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 230 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCATGAACATGAAGCCTGAGA 0.537 NaN 0 0 0 0.004482 0 7 16 MYOCD 93649 broad.mit.edu 37 17 12656344 12656344 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:12656344C>T uc002gnn.2 + 10 2038 c.1739C>T c.(1738-1740)CCT>CTT p.P580L MYOCD_uc002gno.2_Missense_Mutation_p.P580L|MYOCD_uc002gnp.1_Missense_Mutation_p.P484L|MYOCD_uc002gnq.2_Missense_Mutation_p.P299L NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 580 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCCAGCTGTCCTTTTGCATCC 0.512 NaN 0 0 0 0.00308 0 8 122 DRG2 1819 broad.mit.edu 37 17 17997132 17997132 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:17997132G>A uc002gsh.1 + 2 125 c.70G>A c.(70-72)GAG>AAG p.E24K DRG2_uc010vxg.1_Missense_Mutation_p.E24K|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E24K NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 24 signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) TTTAGCCACTGAGTATCATCT 0.577 NaN 0 0 0 0.002836 0 31 77 NOS2 4843 broad.mit.edu 37 17 26087165 26087165 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:26087165C>T uc002gzu.2 - 25 3314 c.3050G>A c.(3049-3051)CGC>CAC p.R1017H NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 1017 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ATCTGGGCGGCGGCACCCAAA 0.652 NaN OREG0024268 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 19 104 NEK8 284086 broad.mit.edu 37 17 27064966 27064966 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:27064966G>C uc002hcp.2 + 7 1019 c.1019G>C c.(1018-1020)GGG>GCG p.G340A NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 340 RCC1 1. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GTGGCAGCTGGGCGCACGCAG 0.672 NaN 0 0 0 0.010729 0 10 163 EFCAB5 374786 broad.mit.edu 37 17 28417662 28417662 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:28417662T>G uc002het.2 + 20 4099 c.3907T>G c.(3907-3909)TCT>GCT p.S1303A EFCAB5_uc010cse.2_Missense_Mutation_p.S1058A|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1303 calcium ion binding ovary(1)|skin(1) 2 TGGCGAGTTCTCTGGAGAGAT 0.383 NaN 0 0 0 0.004656 0 25 94 AP2B1 163 broad.mit.edu 37 17 33977553 33977553 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:33977553C>A uc002hjr.2 + 13 1730 c.1541C>A c.(1540-1542)TCT>TAT p.S514Y AP2B1_uc002hjq.2_Missense_Mutation_p.S514Y|AP2B1_uc010wci.1_Missense_Mutation_p.S476Y|AP2B1_uc002hjs.2_Missense_Mutation_p.S457Y|AP2B1_uc002hjt.2_Missense_Mutation_p.S514Y|AP2B1_uc010ctv.2_Missense_Mutation_p.S514Y|AP2B1_uc010wcj.1_Missense_Mutation_p.S251Y NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 514 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTTTAGGATTCTGATAATCCT 0.438 NaN 1 0 2.14674e-31 0.00361 2.47876e-31 52 82 PLXDC1 57125 broad.mit.edu 37 17 37265201 37265201 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:37265201G>C uc002hrg.2 - 4 637 c.425C>G c.(424-426)CCT>CGT p.P142R PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 142 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 CCCGTAGAAAGGGAAATCAAA 0.617 NaN 0 0 0 0.004007 0 14 29 FKBP10 60681 broad.mit.edu 37 17 39977232 39977232 + Silent SNP C C T rs143450797 byFrequency TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:39977232C>T uc002hxv.2 + 8 1615 c.1290C>T c.(1288-1290)CTC>CTT p.L430L FKBP10_uc002hxw.1_Silent_p.L194L NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 430 PPIase FKBP-type 4. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) AGGCGACTCTCGGGGCCAACA 0.701 NaN 0 0 0 0.009096 0 4 30 NT5C3L 115024 broad.mit.edu 37 17 39991455 39991455 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:39991455T>A uc002hyc.3 - 3 292 c.283A>T c.(283-285)AAT>TAT p.N95Y NT5C3L_uc002hxx.3_5'Flank|NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hyd.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hxy.3_Missense_Mutation_p.N53Y|NT5C3L_uc002hxz.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hya.3_Missense_Mutation_p.N53Y|KLHL10_uc010cxr.2_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.1_5'Flank NM_052935 NP_443167 C9JKC4 C9JKC4_HUMAN 5'-nucleotidase, cytosolic III-like 61 cytoplasm 5'-nucleotidase activity|magnesium ion binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.15) TGTGACTTACTGTAAGAAGAA 0.388 NaN 0 0 0 0.00361 0 49 72 MPP2 4355 broad.mit.edu 37 17 41960382 41960382 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:41960382G>C uc010wip.1 - 5 534 c.477C>G c.(475-477)ACC>ACG p.T159T MPP2_uc002ien.1_Silent_p.T131T|MPP2_uc010wim.1_Silent_p.T103T|MPP2_uc002ieo.1_Silent_p.T114T|MPP2_uc010win.1_5'UTR|MPP2_uc010wio.1_Silent_p.T103T|MPP2_uc010czm.1_Silent_p.T97T NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 138 L27 2. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GTGTCTCATAGGTCTTTGAGG 0.632 NaN 0 0 0 0.00308 0 8 98 NGFR 4804 broad.mit.edu 37 17 47590264 47590264 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:47590264C>A uc002ioz.3 + 6 1302 c.1177C>A c.(1177-1179)CAG>AAG p.Q393K NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 393 Cytoplasmic (Potential).|Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CTGGGCCACCCAGGACAGCGC 0.692 NaN 1 0 7.07758e-08 0.004656 7.47535e-08 28 34 NGFR 4804 broad.mit.edu 37 17 47590332 47590332 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:47590332G>C uc002ioz.3 + 6 1370 c.1245G>C c.(1243-1245)GAG>GAC p.E415D NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 415 Cytoplasmic (Potential).|Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) ACCTCGTGGAGAGTCTGTGCA 0.706 NaN 0 0 0 0.010729 0 10 14 ITGA3 3675 broad.mit.edu 37 17 48156573 48156573 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:48156573C>A uc010dbl.2 + 20 2998 c.2534C>A c.(2533-2535)CCC>CAC p.P845H ITGA3_uc010dbm.2_Missense_Mutation_p.P845H NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 845 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 GGGTCCTGGCCCTGCCGACCA 0.552 NaN 1 0 6.38683e-12 0.008361 7.0462e-12 28 266 KIF2B 84643 broad.mit.edu 37 17 51900906 51900906 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:51900906G>A uc002iua.2 + 1 668 c.512G>A c.(511-513)CGA>CAA p.R171Q uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 171 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CAGGAGATCCGAGCTAGACGC 0.532 NaN 0 0 0 0.00361 0 87 209 RNF43 54894 broad.mit.edu 37 17 56435956 56435956 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:56435956G>A uc002iwf.2 - 8 3137 c.1181C>T c.(1180-1182)GCA>GTA p.A394V RNF43_uc010wnv.1_Missense_Mutation_p.A353V|RNF43_uc002iwh.3_Missense_Mutation_p.A394V|RNF43_uc002iwg.3_Missense_Mutation_p.A394V|RNF43_uc010dcw.2_Missense_Mutation_p.A267V NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 394 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGGGGATGTGCAGCTCTGGG 0.682 NaN 0 0 0 0.001168 0 6 26 BRIP1 83990 broad.mit.edu 37 17 59857637 59857637 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:59857637G>C uc002izk.1 - 13 2061 c.1920C>G c.(1918-1920)ATC>ATG p.I640M BRIP1_uc002izl.1_Missense_Mutation_p.I21M NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 640 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 AATTTTTAATGATATGATTAG 0.333 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.001368 0 12 84 KCNH6 81033 broad.mit.edu 37 17 61607729 61607729 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:61607729G>A uc002jay.2 + 4 581 c.501G>A c.(499-501)GGG>GGA p.G167G KCNH6_uc002jax.1_Silent_p.G167G|KCNH6_uc010wpl.1_Silent_p.G44G|KCNH6_uc010wpm.1_Silent_p.G167G|KCNH6_uc002jaz.1_Silent_p.G167G NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 167 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GCGGACCAGGGCCAGGCACAG 0.637 NaN 0 0 0 0.008361 0 26 163 LRRC37A3 374819 broad.mit.edu 37 17 62891163 62891163 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:62891163G>C uc002jey.2 - 3 2744 c.2213C>G c.(2212-2214)TCT>TGT p.S738C LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron|LRRC37A3_uc010dek.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 738 Extracellular (Potential). integral to membrane 0 CGTGGTTGGAGATGGTTTAAC 0.512 NaN 0 0 0 0.00361 0 55 324 SLC25A19 60386 broad.mit.edu 37 17 73282503 73282503 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:73282503G>C uc002jns.3 - 2 1080 c.170C>G c.(169-171)GCA>GGA p.A57G SLC25A19_uc010dge.2_Missense_Mutation_p.A57G|SLC25A19_uc002jnv.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnu.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnw.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnt.3_Missense_Mutation_p.A57G NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 57 Solcar 1. integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) ATGGTACTTTGCGCTGGGGTC 0.537 NaN 0 0 0 0.00245 0 15 199 CASKIN2 57513 broad.mit.edu 37 17 73498040 73498040 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:73498040G>C uc002joc.2 - 18 3665 c.3115C>G c.(3115-3117)CCC>GCC p.P1039A CASKIN2_uc010wsc.1_Missense_Mutation_p.P957A NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 1039 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGGGCTCGGGCTGGGGAAGG 0.697 NaN 0 0 0 0.008291 0 11 148 EXOC7 23265 broad.mit.edu 37 17 74097809 74097809 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:74097809T>C uc002jqs.2 - 3 357 c.262A>G c.(262-264)ATC>GTC p.I88V EXOC7_uc010dgv.1_Missense_Mutation_p.I35V|EXOC7_uc002jqq.2_Missense_Mutation_p.I88V|EXOC7_uc010wsw.1_Missense_Mutation_p.I88V|EXOC7_uc010wsx.1_Missense_Mutation_p.I88V|EXOC7_uc002jqr.2_Missense_Mutation_p.I88V|EXOC7_uc010wsv.1_Missense_Mutation_p.I47V|EXOC7_uc002jqu.2_Missense_Mutation_p.I88V|EXOC7_uc002jqv.2_Missense_Mutation_p.I88V NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 88 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) TAGTAGCTGATGACATGGTCC 0.547 NaN 0 0 0 0.002836 0 31 285 MGAT5B 146664 broad.mit.edu 37 17 74936492 74936492 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:74936492C>T uc002jti.2 + 12 1723 c.1620C>T c.(1618-1620)ATC>ATT p.I540I MGAT5B_uc002jth.2_Silent_p.I529I NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 531 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 AGCTCTTCATCGGGTTTGGCT 0.662 NaN 0 0 0 0.00361 0 85 180 SEC14L1 6397 broad.mit.edu 37 17 75189528 75189528 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:75189528C>T uc002jto.2 + 6 638 c.371C>T c.(370-372)ACC>ATC p.T124I SEC14L1_uc010dhc.2_Missense_Mutation_p.T124I|SEC14L1_uc010wth.1_Missense_Mutation_p.T124I|SEC14L1_uc002jtm.2_Missense_Mutation_p.T124I|SEC14L1_uc010wti.1_Missense_Mutation_p.T90I NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 124 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding ovary(2) 2 GAAGATTGGACCTGTTTTGAA 0.358 NaN 0 0 0 0.001168 0 6 92 CBX4 8535 broad.mit.edu 37 17 77808858 77808858 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:77808858G>C uc002jxe.2 - 5 746 c.583C>G c.(583-585)CCC>GCC p.P195A NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 195 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CACTTGTCGGGCGGGTGGCTC 0.711 NaN OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 19 111 CARD14 79092 broad.mit.edu 37 17 78162187 78162187 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:78162187G>C uc002jxw.1 + 5 882 c.687G>C c.(685-687)CTG>CTC p.L229L CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L229L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_5'UTR|CARD14_uc010dhu.1_Silent_p.L27L NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 229 Potential. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGTATCTACTGAAGCAGGAGC 0.587 NaN 0 0 0 0.004289 0 36 43 SLC26A11 284129 broad.mit.edu 37 17 78195377 78195377 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:78195377G>C uc002jyb.1 + 3 287 c.18G>C c.(16-18)ACG>ACC p.T6T SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Silent_p.T6T|SLC26A11_uc002jyd.1_Silent_p.T6T|SLC26A11_uc010dhv.1_Silent_p.T6T NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 6 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTTCGGTGACGGCGCTGGGTC 0.687 NaN 0 0 0 0.012319 0 22 20 CCDC57 284001 broad.mit.edu 37 17 80115782 80115782 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:80115782G>A uc002kdz.1 - 15 2438 c.2083C>T c.(2083-2085)CTT>TTT p.L695F CCDC57_uc002kdx.1_Missense_Mutation_p.L695F|CCDC57_uc010dik.1_Missense_Mutation_p.L203F NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 695 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TCACGGGGAAGCTCACGCTGG 0.642 NaN 0 0 0 0.004672 0 3 18 EMILIN2 84034 broad.mit.edu 37 18 2891874 2891874 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr18:2891874G>A uc002kln.2 + 4 1908 c.1749G>A c.(1747-1749)TTG>TTA p.L583L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 583 Potential. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TGCACCTTTTGAAATCTCTCA 0.458 NaN 0 0 0 0.006122 0 16 174 LAMA1 284217 broad.mit.edu 37 18 6986291 6986291 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr18:6986291C>T uc002knm.2 - 37 5318 c.5224G>A c.(5224-5226)GAA>AAA p.E1742K LAMA1_uc010wzj.1_Missense_Mutation_p.E1218K NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1742 Domain II and I.|Potential. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCCAATTCTTCCAGCGGC 0.423 NaN 0 0 0 0.009535 0 31 276 ANKRD12 23253 broad.mit.edu 37 18 9255911 9255912 + Missense_Mutation DNP TA TA AG TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr18:9255911_9255912TA>AG uc002knv.2 + 9 2903_2904 c.2646_2647TA>AG c.(2644-2649)CATAAA>CAAGAA p.882_883HK>QE ANKRD12_uc002knw.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc002knx.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc010dkx.1_Missense_Mutation_p.589_590HK>QE NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 882_883 nucleus ovary(2)|central_nervous_system(1) 3 AAAAATGCCATAAAGAAGGTGA 0.332 NaN 0 0 0 0.004672 0 5 51 MUM1 84939 broad.mit.edu 37 19 1370839 1370839 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:1370839A>G uc010xgm.1 + 11 1817 c.1748A>G c.(1747-1749)AAG>AGG p.K583R MUM1_uc010dsi.2_Missense_Mutation_p.K515R|MUM1_uc002lrz.2_Missense_Mutation_p.K584R|MUM1_uc002lsb.2_Missense_Mutation_p.K515R Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 583 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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) GTGAAGGCCAAGGGCGCGGAG 0.662 NaN 0 0 0 0.00308 0 7 7 PCSK4 54760 broad.mit.edu 37 19 1482190 1482190 + Silent SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:1482190G>T uc002ltb.1 - 15 1898 c.1836C>A c.(1834-1836)GCC>GCA p.A612A C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|PCSK4_uc002lsz.2_Silent_p.A99A|PCSK4_uc002lta.2_3'UTR NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 612 proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGATGTAGGCGGGGCCGT 0.716 NaN 1 0 6.4e-05 0.004672 6.62005e-05 2 3 PCSK4 54760 broad.mit.edu 37 19 1482922 1482922 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:1482922C>G uc002ltb.1 - 13 1731 c.1669G>C c.(1669-1671)GAG>CAG p.E557Q PCSK4_uc002lsz.2_Missense_Mutation_p.E44Q|PCSK4_uc002lta.2_Intron NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 557 proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTTGTTCTCTAGGCCCAGG 0.627 NaN 0 0 0 0.00499 0 16 34 REXO1 57455 broad.mit.edu 37 19 1827792 1827792 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:1827792G>A uc002lua.3 - 2 1091 c.996C>T c.(994-996)GGC>GGT p.G332G REXO1_uc010dsr.1_Silent_p.G286G NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 332 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|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) CCCGCAGGCCGCCCCCCTCGG 0.731 NaN 0 0 0 0.006214 0 8 8 AP3D1 8943 broad.mit.edu 37 19 2102196 2102196 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:2102196C>T uc002luz.2 - 30 3661 c.3438G>A c.(3436-3438)ATG>ATA p.M1146I AP3D1_uc010dsv.2_Missense_Mutation_p.M236I|AP3D1_uc002luy.2_Missense_Mutation_p.M1105I|AP3D1_uc002lva.2_Missense_Mutation_p.M1208I NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 1146 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter 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) GCGTCGCCTTCATCTCTTCTA 0.572 NaN 0 0 0 0.00361 0 146 158 ZNF555 148254 broad.mit.edu 37 19 2852510 2852510 + Silent SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:2852510A>G uc002lwo.2 + 4 536 c.447A>G c.(445-447)GGA>GGG p.G149G ZNF555_uc002lwn.3_Silent_p.G148G NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) ACACGTACGGAAAAGTCTTCA 0.458 NaN 0 0 0 0.001368 0 11 120 PIAS4 51588 broad.mit.edu 37 19 4037409 4037409 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:4037409G>A uc002lzg.2 + 10 1190 c.1180G>A c.(1180-1182)GAC>AAC p.D394N NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 394 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGGACGCCGACGAGATCGA 0.701 NaN 0 0 0 0.003163 0 14 32 MUC16 94025 broad.mit.edu 37 19 9021060 9021060 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:9021060C>A uc002mkp.2 - 19 37467 c.37263G>T c.(37261-37263)CAG>CAT p.Q12421H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12423 Extracellular (Potential).|SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCACCAGACCCTGCAGGACCC 0.547 NaN 1 0 7.03913e-09 0.001368 7.59668e-09 13 183 TNPO2 30000 broad.mit.edu 37 19 12817453 12817453 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:12817453T>C uc002muo.2 - 13 1612 c.1427A>G c.(1426-1428)AAG>AGG p.K476R TNPO2_uc002mup.2_Missense_Mutation_p.K568R|TNPO2_uc002muq.2_Missense_Mutation_p.K476R|TNPO2_uc002mur.2_Missense_Mutation_p.K476R|SNORD41_uc002mut.1_5'Flank NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 476 HEAT 8. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 CATCAGGGGCTTGAGGTGCAT 0.637 NaN 0 0 0 0.00308 0 7 77 AKAP8L 26993 broad.mit.edu 37 19 15512114 15512114 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:15512114G>C uc002naw.1 - 5 762 c.663C>G c.(661-663)CTC>CTG p.L221L AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.L160L|AKAP8L_uc002nay.1_Silent_p.L221L|AKAP8L_uc002naz.2_Silent_p.L69L NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 221 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 TCTGGGAGAAGAGGGAGGGCA 0.672 NaN 0 0 0 0.00361 0 87 93 IL12RB1 3594 broad.mit.edu 37 19 18174753 18174753 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:18174753C>T uc002nhw.1 - 13 1615 c.1551G>A c.(1549-1551)ACG>ACA p.T517T IL12RB1_uc010xqb.1_Silent_p.T517T|IL12RB1_uc002nhx.1_Silent_p.T557T NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 517 Extracellular (Potential).|Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 GCACCTGCACCGTGTAGGCTA 0.632 NaN 0 0 0 0.001368 0 11 21 KIAA1683 80726 broad.mit.edu 37 19 18375916 18375916 + Missense_Mutation SNP C C T rs140540623 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:18375916C>T uc002nin.2 - 3 2650 c.2434G>A c.(2434-2436)GTG>ATG p.V812M KIAA1683_uc010ebn.2_Missense_Mutation_p.V812M|KIAA1683_uc010xqe.1_Missense_Mutation_p.V766M NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 812 mitochondrion ovary(2) 2 TTCCCCGGCACGTGTCCGTGG 0.687 NaN 0 0 0 0.004007 0 15 100 NCAN 1463 broad.mit.edu 37 19 19337300 19337300 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:19337300C>T uc002nlz.2 + 7 1177 c.1078C>T c.(1078-1080)CAC>TAC p.H360Y NCAN_uc010ecc.1_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 360 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CACAGCTCATCACCCCACGTC 0.562 NaN 0 0 0 0.001368 0 13 110 ZNF93 81931 broad.mit.edu 37 19 20045094 20045094 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:20045094G>A uc002non.2 + 4 1441 c.1330G>A c.(1330-1332)GAG>AAG p.E444K NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 444 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 TAGTAAACATGAGATCATTCA 0.388 NaN 0 0 0 0.00333 0 23 41 ZNF682 91120 broad.mit.edu 37 19 20135146 20135146 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:20135146G>C uc002noq.2 - 2 166 c.43C>G c.(43-45)CTG>GTG p.L15V ZNF682_uc002noo.2_5'UTR|ZNF682_uc002nop.2_5'UTR|ZNF682_uc010eck.2_Intron NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 CACTCCTCCAGAGAGAATTCT 0.433 NaN 0 0 0 0.003954 0 25 58 ZNF257 113835 broad.mit.edu 37 19 22271880 22271880 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:22271880C>A uc010ecx.2 + 4 1497 c.1328C>A c.(1327-1329)TCT>TAT p.S443Y ZNF257_uc010ecy.2_Missense_Mutation_p.S411Y NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 443 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTAACCGGTCTTCATACCTT 0.408 NaN 1 0 0.000219431 0.00245 0.000226068 15 22 MAG 4099 broad.mit.edu 37 19 35793494 35793494 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:35793494G>A uc002nyy.1 + 7 1263 c.1114G>A c.(1114-1116)GAG>AAG p.E372K MAG_uc002nyx.1_Missense_Mutation_p.E372K|MAG_uc010eds.1_Missense_Mutation_p.E347K|MAG_uc002nyz.1_Missense_Mutation_p.E372K NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 372 Ig-like C2-type 3.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGTCATCTACGAGAGCGAGCT 0.587 NaN 0 0 0 0.007291 0 28 137 DPF1 8193 broad.mit.edu 37 19 38709684 38709684 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:38709684G>A uc002ohl.2 - 4 421 c.394C>T c.(394-396)CTG>TTG p.L132L DPF1_uc002ohm.2_Silent_p.L132L|DPF1_uc002ohn.2_Silent_p.L50L|DPF1_uc010xtu.1_Silent_p.L106L|DPF1_uc010xtv.1_Silent_p.L106L|DPF1_uc010xtw.1_Silent_p.L106L NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 132 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCTTCTTCAGGGGTGCTTCA 0.612 NaN 0 0 0 0.007835 0 38 270 LGALS4 3960 broad.mit.edu 37 19 39292958 39292958 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:39292958C>G uc002ojg.2 - 8 871 c.657G>C c.(655-657)AAG>AAC p.K219N NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 219 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CGTTATACCTCTTGCCTGTGG 0.328 NaN 0 0 0 0.00361 0 171 121 CCDC97 90324 broad.mit.edu 37 19 41822706 41822706 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:41822706G>A uc002oqg.2 + 2 586 c.464G>A c.(463-465)CGT>CAT p.R155H CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 155 0 ACCCGCCTGCGTAACCGGCGC 0.677 NaN 0 0 0 0.00361 0 44 61 BCKDHA 593 broad.mit.edu 37 19 41930481 41930481 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:41930481G>A uc002oqq.2 + 9 1335 c.1306G>A c.(1306-1308)GAG>AAG p.E436K CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.E470K|BCKDHA_uc002oqr.2_Missense_Mutation_p.E435K|BCKDHA_uc010xvz.1_Missense_Mutation_p.E439K NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 436 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 GACCTACGGGGAGCACTACCC 0.617 NaN 0 0 0 0.00874 0 38 149 POU2F2 5452 broad.mit.edu 37 19 42600386 42600386 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:42600386G>A uc002osp.2 - 8 578 c.511C>T c.(511-513)CGC>TGC p.R171C POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.R171C NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 171 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) AGCGTAGGGCGGGTCACGGCC 0.706 NaN 0 0 0 0.000602 0 5 23 PSG7 5676 broad.mit.edu 37 19 43441225 43441225 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:43441225C>A uc002ovl.3 - 1 106 c.4G>T c.(4-6)GGG>TGG p.G2W PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.G2W NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 2 female pregnancy extracellular region 0 Prostate(69;0.00682) GAGAGGGGCCCCATGGTCTCT 0.572 NaN 1 0 2.38352e-08 0.004289 2.5322e-08 34 161 FBXO46 23403 broad.mit.edu 37 19 46216533 46216533 + Nonsense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:46216533G>C uc002pcy.2 - 2 346 c.221C>G c.(220-222)TCA>TGA p.S74* FBXO46_uc002pcz.2_Nonsense_Mutation_p.S74* NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 74 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) AGCTGCTGCTGAGAGGAGCGG 0.642 NaN 0 0 0 0.003163 0 13 114 GRLF1 2909 broad.mit.edu 37 19 47440614 47440614 + Nonsense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:47440614A>T uc010ekv.2 + 2 3775 c.3775A>T c.(3775-3777)AAG>TAG p.K1259* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1259 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GACTCCAGAGAAGCCGATCCC 0.443 NaN 0 0 0 0.006214 0 9 113 GRLF1 2909 broad.mit.edu 37 19 47440617 47440617 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:47440617C>G uc010ekv.2 + 2 3778 c.3778C>G c.(3778-3780)CCG>GCG p.P1260A NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1260 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TCCAGAGAAGCCGATCCCCAT 0.443 NaN 0 0 0 0.006214 0 9 114 MAMSTR 284358 broad.mit.edu 37 19 49218558 49218558 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:49218558G>C uc002pkg.2 - 5 448 c.386C>G c.(385-387)TCT>TGT p.S129C MAMSTR_uc002pkf.2_Missense_Mutation_p.S26C NM_001130915 NP_001124387 Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing 129 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding ovary(1) 1 TTCCCACAGAGATGGCCCAGG 0.627 NaN 0 0 0 0.000602 0 3 9 FUT1 2523 broad.mit.edu 37 19 49254435 49254435 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:49254435C>T uc002pkk.2 - 4 1079 c.104G>A c.(103-105)GGC>GAC p.G35D NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 35 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CAGGCCTAGGCCATGTGGAAA 0.602 NaN 0 0 0 0.004656 0 23 93 TSKS 60385 broad.mit.edu 37 19 50266516 50266516 + Splice_Site SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:50266516C>T uc002ppm.2 - 1 1 c.-10_splice c.e1-1 NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTGTGGGGGTCTGGCTCCCAG 0.632 NaN 0 0 0 0.00632 0 27 115 TMEM150B 284417 broad.mit.edu 37 19 55824329 55824329 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:55824329G>A uc010esw.1 - 8 773 c.600C>T c.(598-600)GCC>GCT p.A200A TMEM150B_uc010yfu.1_Silent_p.A200A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 200 Helical; (Potential). integral to membrane 0 AGAAGTCAACGGCTAAGAGAC 0.682 NaN 0 0 0 0.004672 0 3 34 ZNF471 57573 broad.mit.edu 37 19 57037045 57037045 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:57037045C>G uc002qnh.2 + 5 1742 c.1609C>G c.(1609-1611)CAT>GAT p.H537D NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 537 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TCAGAAAACTCATACAGGAGA 0.393 NaN 0 0 0 0.006214 0 9 93 ZNF460 10794 broad.mit.edu 37 19 57803086 57803086 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:57803086G>C uc002qog.2 + 3 1499 c.1177G>C c.(1177-1179)GAG>CAG p.E393Q ZNF460_uc010ygv.1_Missense_Mutation_p.E352Q NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 393 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAGCCTTTTGAGTGCAAAGA 0.468 NaN 0 0 0 0.003271 0 35 133 ZNF551 90233 broad.mit.edu 37 19 58198132 58198132 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:58198132G>A uc002qpw.3 + 3 664 c.441G>A c.(439-441)AAG>AAA p.K147K ZNF551_uc002qpv.3_Silent_p.K90K|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGAAAAGGAAGGTGGATGAGG 0.507 NaN 0 0 0 0.00361 0 119 94 ZNF274 10782 broad.mit.edu 37 19 58723904 58723904 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:58723904C>A uc002qrq.1 + 10 1816 c.1357C>A c.(1357-1359)CGT>AGT p.R453S ZNF274_uc002qrr.1_Missense_Mutation_p.R421S|ZNF274_uc002qrs.1_Missense_Mutation_p.R348S|ZNF274_uc010eum.1_Missense_Mutation_p.R212S NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 453 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ATTGCGCAAACGTGACTCACA 0.423 NaN 1 0 4.68919e-08 0.008291 4.972e-08 11 163 FAM110C 642273 broad.mit.edu 37 2 45650 45650 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:45650G>A uc010yim.1 - 1 736 c.736C>T c.(736-738)CTC>TTC p.L246F NM_001077710 NP_001071178 Q1W6H9 F110C_HUMAN hypothetical protein LOC642273 246 microtubule|microtubule organizing center|spindle pole 0 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CGCACCTTGAGGGTCACACAG 0.687 NaN 0 0 0 0.004672 0 3 31 NBAS 51594 broad.mit.edu 37 2 15448382 15448382 + Silent SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:15448382T>A uc002rcc.1 - 40 4781 c.4755A>T c.(4753-4755)CGA>CGT p.R1585R NBAS_uc010exl.1_Silent_p.R657R|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1585 ovary(2)|liver(1)|skin(1) 4 ATGGGGCCAATCGGGCATAGA 0.463 NaN 0 0 0 0.001984 0 7 89 SPAST 6683 broad.mit.edu 37 2 32340842 32340842 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:32340842G>A uc002roc.2 + 6 1163 c.942G>A c.(940-942)TTG>TTA p.L314L SPAST_uc002rod.2_Silent_p.L282L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 314 Required for interaction with microtubules and microtubule severing.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AAAAAGACTTGAAGAATTTTA 0.303 NaN 0 0 0 0.002836 0 30 48 THADA 63892 broad.mit.edu 37 2 43808919 43808919 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:43808919A>G uc002rsw.3 - 8 1034 c.682T>C c.(682-684)TGT>CGT p.C228R THADA_uc002rsx.3_Missense_Mutation_p.C228R|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.C228R|THADA_uc002rtc.3_Missense_Mutation_p.C228R|THADA_uc002rtd.2_Missense_Mutation_p.C228R NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 228 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGCAATCCACACATATTTTGC 0.333 NaN 0 0 0 0.004482 0 8 72 MSH6 2956 broad.mit.edu 37 2 48027760 48027760 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:48027760G>T uc002rwd.3 + 4 2790 c.2638G>T c.(2638-2640)GAT>TAT p.D880Y MSH6_uc002rwc.2_Missense_Mutation_p.D880Y|MSH6_uc010fbj.2_Missense_Mutation_p.D578Y|MSH6_uc010yoi.1_Missense_Mutation_p.D750Y|MSH6_uc010yoj.1_Missense_Mutation_p.D578Y NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 880 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGAAGTTGCTGATGGTTTTAA 0.363 NaN Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 1 0 1.96895e-08 0.00278 2.09585e-08 23 120 NRXN1 9378 broad.mit.edu 37 2 51254845 51254845 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:51254845G>A uc010fbq.2 - 2 2044 c.567C>T c.(565-567)GTC>GTT p.V189V NRXN1_uc002rxe.3_Silent_p.V189V|NRXN1_uc002rxd.1_Silent_p.V189V NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGAGGAGTTGACCCTCACGT 0.721 NaN 0 0 0 0.003163 0 13 11 C2orf63 130162 broad.mit.edu 37 2 55407749 55407749 + Nonsense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:55407749G>T uc002ryi.2 - 11 1627 c.1281C>A c.(1279-1281)TAC>TAA p.Y427* C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Nonsense_Mutation_p.Y305* NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 427 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) CACATTCACTGTAGACAATCT 0.448 NaN 1 0 7.88023e-25 0.00361 8.94735e-25 49 76 CCDC104 112942 broad.mit.edu 37 2 55764680 55764680 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:55764680A>G uc002ryy.2 + 7 797 c.599A>G c.(598-600)AAT>AGT p.N200S CCDC104_uc002ryx.2_Missense_Mutation_p.N225S NM_080667 NP_542398 Q96G28 CC104_HUMAN coiled-coil domain containing 104 200 ovary(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATAATGAATAATTCCCAAGGG 0.373 NaN 0 0 0 0.001984 0 6 101 USP34 9736 broad.mit.edu 37 2 61622358 61622358 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:61622358G>A uc002sbe.2 - 4 585 c.563C>T c.(562-564)ACT>ATT p.T188I NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 188 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ACTTTCTTGAGTTGATATATC 0.229 NaN 0 0 0 0.006214 0 10 11 ETAA1 54465 broad.mit.edu 37 2 67630594 67630594 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:67630594G>C uc002sdz.1 + 5 919 c.780G>C c.(778-780)AAG>AAC p.K260N NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 260 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 GAAACACCAAGATATCTGTGG 0.313 NaN 0 0 0 0.00245 0 15 87 ARHGAP25 9938 broad.mit.edu 37 2 69002357 69002357 + Silent SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:69002357G>T uc002seu.2 + 2 430 c.66G>T c.(64-66)CGG>CGT p.R22R ARHGAP25_uc010yqk.1_5'UTR|ARHGAP25_uc010fdg.2_Silent_p.R22R|ARHGAP25_uc010yql.1_Silent_p.R22R|ARHGAP25_uc002sev.2_Silent_p.R15R|ARHGAP25_uc002sew.2_Silent_p.R15R|ARHGAP25_uc002sex.2_Silent_p.R15R|ARHGAP25_uc010fdh.1_RNA NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 22 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 CTATAGCTCGGTCAAGGAGTG 0.612 NaN 1 0 6.27289e-28 0.00361 7.1822e-28 45 599 LOXL3 84695 broad.mit.edu 37 2 74779494 74779494 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:74779494C>G uc002smp.1 - 2 340 c.268G>C c.(268-270)GAG>CAG p.E90Q LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.E90Q|LOXL3_uc002smq.1_Missense_Mutation_p.E90Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E90Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 90 SRCR 1. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CCTGTGGCCTCTGTGAAGCCC 0.572 NaN 0 0 0 0.006122 0 16 85 GGCX 2677 broad.mit.edu 37 2 85778102 85778102 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:85778102C>G uc002sps.2 - 13 1940 c.1834G>C c.(1834-1836)GAG>CAG p.E612Q GGCX_uc010yss.1_Missense_Mutation_p.E428Q|GGCX_uc010yst.1_Missense_Mutation_p.E555Q NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 612 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) AGGTCTTGCTCCAGTGCAAGC 0.453 NaN 0 0 0 0.00361 0 101 120 ANKRD36 375248 broad.mit.edu 37 2 97866233 97866233 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:97866233A>G uc010yva.1 + 46 3072 c.2828A>G c.(2827-2829)GAA>GGA p.E943G ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 943 0 ATAACCAGAGAAAAAAAGGAT 0.323 NaN 0 0 0 0.004672 0 2 11 C2orf55 343990 broad.mit.edu 37 2 99463218 99463218 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:99463218C>T uc002szf.1 - 2 340 c.46G>A c.(46-48)GAA>AAA p.E16K NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 16 0 CCAAGGCCTTCTGCAGCCTCC 0.527 NaN 0 0 0 0.00361 0 43 76 GPR45 11250 broad.mit.edu 37 2 105859329 105859329 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:105859329G>A uc002tco.1 + 1 1130 c.1014G>A c.(1012-1014)TTG>TTA p.L338L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 338 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GCATAGAGTTGCTGCCCCAGA 0.547 NaN 0 0 0 0.008871 0 21 195 BUB1 699 broad.mit.edu 37 2 111399043 111399043 + Splice_Site SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:111399043T>C uc002tgc.2 - 22 2738 c.2626_splice c.e22-1 p.N876_splice BUB1_uc010yxh.1_Splice_Site_p.N856_splice|BUB1_uc010fkb.2_Intron NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AATGGCATTCTAGGAACAATG 0.403 NaN 0 0 0 0.006999 0 37 105 ZC3H6 376940 broad.mit.edu 37 2 113089651 113089651 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:113089651G>A uc002thq.1 + 12 3550 c.3156G>A c.(3154-3156)AGG>AGA p.R1052R NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 1052 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 ATGACCCTAGGGATCACGGTT 0.453 NaN 0 0 0 0.005443 0 25 40 INSIG2 51141 broad.mit.edu 37 2 118854145 118854145 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:118854145G>C uc002tlk.2 + 2 219 c.13G>C c.(13-15)GAG>CAG p.E5Q INSIG2_uc010yye.1_Intron NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 5 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex p.E5K(1) ovary(1)|central_nervous_system(1) 2 GGCAGAAGGAGAGACAGAGTC 0.418 NaN 0 0 0 0.002299 0 24 54 PCDP1 200373 broad.mit.edu 37 2 120385260 120385260 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:120385260G>C uc002tmb.2 + 17 1782 c.690G>C c.(688-690)CGG>CGC p.R230R PCDP1_uc010yyq.1_Silent_p.R360R NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 516 cilium calmodulin binding 0 Colorectal(110;0.196) TCCTGAGGCGGATCAGTCAGG 0.483 NaN 0 0 0 0.009535 0 30 227 PTPN4 5775 broad.mit.edu 37 2 120725515 120725515 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:120725515G>A uc002tmf.1 + 26 3432 c.2661G>A c.(2659-2661)ATG>ATA p.M887I PTPN4_uc010flj.1_Missense_Mutation_p.M600I|PTPN4_uc010yyr.1_Missense_Mutation_p.M520I NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 887 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) TAAGAACAATGAGAGATCAGC 0.373 NaN 0 0 0 0.00361 0 52 85 GLI2 2736 broad.mit.edu 37 2 121747003 121747003 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:121747003G>C uc010flp.2 + 13 3543 c.3513G>C c.(3511-3513)CTG>CTC p.L1171L GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.L843L|GLI2_uc002tmu.3_Silent_p.L826L NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1171 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGGGCAACCTGGCGGTGGTGC 0.632 NaN 0 0 0 0.000602 0 5 67 CCDC74A 90557 broad.mit.edu 37 2 132290451 132290451 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:132290451G>C uc002tta.2 + 6 943 c.891G>C c.(889-891)AAG>AAC p.K297N CCDC74A_uc002ttb.2_Missense_Mutation_p.K231N NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 297 skin(1) 1 GGCACCTCAAGTCCCTCCTGG 0.697 NaN 0 0 0 0.00308 0 8 97 LCT 3938 broad.mit.edu 37 2 136575162 136575163 + Missense_Mutation DNP CC CC TG TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:136575162_136575163CC>TG uc002tuu.1 - 6 1466_1467 c.1455_1456GG>CA c.(1453-1458)CAGGAT>CACAAT p.485_486QD>HN NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 485_486 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGCCCGCATCCTGTAGCCTGT 0.614 NaN 0 0 0 0.004672 0 9 86 LRP1B 53353 broad.mit.edu 37 2 141092027 141092027 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:141092027G>A uc002tvj.1 - 79 13190 c.12218C>T c.(12217-12219)CCC>CTC p.P4073L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4073 Extracellular (Potential).|LDL-receptor class B 35. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATACCTGTGGGTCTCTGTAA 0.363 NaN TSP Lung(27;0.18) 0 0 0 0.002836 0 35 67 LRP1B 53353 broad.mit.edu 37 2 141130656 141130656 + Silent SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:141130656A>C uc002tvj.1 - 69 11661 c.10689T>G c.(10687-10689)GGT>GGG p.G3563G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3563 Extracellular (Potential).|LDL-receptor class A 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTATACACTGACCATTGGAAC 0.353 NaN TSP Lung(27;0.18) 0 0 0 0.001984 0 7 98 ERMN 57471 broad.mit.edu 37 2 158178129 158178129 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:158178129A>G uc002tzh.2 - 3 771 c.509T>C c.(508-510)ATG>ACG p.M170T ERMN_uc010zcj.1_Missense_Mutation_p.M64T|ERMN_uc010zck.1_Missense_Mutation_p.M150T|ERMN_uc002tzi.2_Missense_Mutation_p.M183T NM_020711 NP_065762 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein isoform b 170 cytoplasm|cytoskeleton ovary(1)|skin(1) 2 AGAATGTAACATGTCAGCTTG 0.353 NaN 0 0 0 0.006999 0 40 220 CCDC148 130940 broad.mit.edu 37 2 159035486 159035486 + Silent SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:159035486A>G uc002tzq.2 - 12 1656 c.1393T>C c.(1393-1395)TTG>CTG p.L465L CCDC148_uc002tzr.2_Silent_p.L313L|CCDC148_uc010foh.2_Silent_p.L178L NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 465 ovary(2) 2 CGCCTTTCCAATAATTCTTGT 0.403 NaN 0 0 0 0.004656 0 25 39 PKP4 8502 broad.mit.edu 37 2 159477589 159477589 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:159477589G>C uc002tzv.2 + 5 628 c.368G>C c.(367-369)GGA>GCA p.G123A PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.G123A|PKP4_uc002tzw.2_Missense_Mutation_p.G123A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.G123A|PKP4_uc002uaa.2_5'UTR NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 123 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CCAGAACAAGGAACCCTCTAT 0.408 NaN HNSCC(62;0.18) 0 0 0 0.001168 0 6 102 BAZ2B 29994 broad.mit.edu 37 2 160257136 160257136 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:160257136C>G uc002uao.2 - 17 3224 c.2872G>C c.(2872-2874)GAA>CAA p.E958Q BAZ2B_uc002uap.2_Missense_Mutation_p.E922Q|BAZ2B_uc002uaq.1_Missense_Mutation_p.E788Q NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 958 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GCTCGAAGTTCTTTTTCCATT 0.244 NaN 0 0 0 0.001368 0 13 39 SCN2A 6326 broad.mit.edu 37 2 166231228 166231228 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:166231228T>A uc002udc.2 + 22 4296 c.4006T>A c.(4006-4008)TCT>ACT p.S1336T SCN2A_uc002udd.2_Missense_Mutation_p.S1336T|SCN2A_uc002ude.2_Missense_Mutation_p.S1336T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1336 III. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGCCATTCCATCTATCATGAA 0.333 NaN 0 0 0 0.00308 0 7 111 MAP1D 254042 broad.mit.edu 37 2 172945092 172945092 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:172945092G>A uc002uhk.2 + 10 1039 c.966G>A c.(964-966)TCG>TCA p.S322S MAP1D_uc010zdw.1_Silent_p.S204S NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 322 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) TGATCACGTCGAGGGGCGCGC 0.612 NaN 0 0 0 0.00361 0 255 167 TTN 7273 broad.mit.edu 37 2 179417524 179417524 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:179417524G>A uc010zfg.1 - 284 82623 c.82399C>T c.(82399-82401)CGT>TGT p.R27467C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21162C|TTN_uc010zfi.1_Missense_Mutation_p.R21095C|TTN_uc010zfj.1_Missense_Mutation_p.R20970C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28394 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) GAGAGATCACGTATAGGAGCT 0.438 NaN 0 0 0 0.008291 0 10 100 PMS1 5378 broad.mit.edu 37 2 190718686 190718686 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:190718686C>G uc002urh.3 + 8 1373 c.844C>G c.(844-846)CTG>GTG p.L282V PMS1_uc010zga.1_Missense_Mutation_p.L243V|PMS1_uc010zgb.1_Missense_Mutation_p.L221V|PMS1_uc002urk.3_Missense_Mutation_p.L243V|PMS1_uc002uri.3_Missense_Mutation_p.L282V|PMS1_uc010zgc.1_Missense_Mutation_p.L106V|PMS1_uc010zgd.1_Missense_Mutation_p.L106V|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L243V|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L67V|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Translation_Start_Site NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 282 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCATTACAATCTGAAATGCCT 0.279 NaN Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 0 0 0 0.00308 0 6 57 PMS1 5378 broad.mit.edu 37 2 190718983 190718983 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:190718983C>T uc002urh.3 + 9 1514 c.985C>T c.(985-987)CTT>TTT p.L329F PMS1_uc010zga.1_Missense_Mutation_p.L290F|PMS1_uc010zgb.1_Missense_Mutation_p.L268F|PMS1_uc002urk.3_Missense_Mutation_p.L290F|PMS1_uc002uri.3_Missense_Mutation_p.L329F|PMS1_uc010zgc.1_Missense_Mutation_p.L153F|PMS1_uc010zgd.1_Missense_Mutation_p.L153F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L290F|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L114F|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 329 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TTTAATTGCTCTTGAAAATCT 0.254 NaN Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 0 0 0 0.004482 0 9 47 MDH1B 130752 broad.mit.edu 37 2 207619970 207619970 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:207619970G>C uc002vbs.2 - 5 728 c.673C>G c.(673-675)CTG>GTG p.L225V MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.L225V|MDH1B_uc010fuj.2_Missense_Mutation_p.L127V|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 225 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CAGTCCTCCAGAGTGAACACC 0.577 NaN 0 0 0 0.00874 0 44 35 KIAA1486 57624 broad.mit.edu 37 2 226447337 226447337 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr2:226447337G>C uc002voe.2 + 4 1379 c.1204G>C c.(1204-1206)GGA>CGA p.G402R KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G172R NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 402 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CGCGGCCCTGGGACCTGCCTC 0.667 NaN 0 0 0 0.000602 0 5 4 CSNK2A1 1457 broad.mit.edu 37 20 469337 469337 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:469337T>C uc002wdw.1 - 11 1202 c.809A>G c.(808-810)AAT>AGT p.N270S CSNK2A1_uc002wdx.1_Missense_Mutation_p.N270S|CSNK2A1_uc002wdy.1_Missense_Mutation_p.N134S NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 270 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) CAAGATATCATTGAAACGTGG 0.358 NaN 0 0 0 0.00361 0 47 33 C20orf194 25943 broad.mit.edu 37 20 3305600 3305600 + Nonsense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:3305600C>A uc002wii.2 - 14 1255 c.1204G>T c.(1204-1206)GAG>TAG p.E402* C20orf194_uc002wij.3_Nonsense_Mutation_p.E141*|C20orf194_uc002wik.2_Nonsense_Mutation_p.E76*|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 402 0 AGAGTTTGCTCTGCTACCTCC 0.413 NaN 1 0 3.03874e-20 0.003271 3.42881e-20 36 114 PLCB4 5332 broad.mit.edu 37 20 9400495 9400495 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:9400495C>T uc002wnf.2 + 24 2193 c.2057C>T c.(2056-2058)ACA>ATA p.T686I PLCB4_uc010gbw.1_Missense_Mutation_p.T686I|PLCB4_uc010gbx.2_Missense_Mutation_p.T698I|PLCB4_uc002wne.2_Missense_Mutation_p.T686I|PLCB4_uc002wnh.2_Missense_Mutation_p.T533I NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 686 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 CCTGATCGAACATTTGACCCC 0.433 NaN 0 0 0 0.00333 0 23 277 ASXL1 171023 broad.mit.edu 37 20 31023699 31023699 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:31023699C>T uc002wxs.2 + 12 3610 c.3184C>T c.(3184-3186)CCT>TCT p.P1062S ASXL1_uc010geb.2_Missense_Mutation_p.P953S NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1062 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GATGGTTGCTCCTCAGAGCTG 0.547 NaN F|N|Mis MDS|CMML 0 0 0 0.00361 0 93 156 EDEM2 55741 broad.mit.edu 37 20 33719493 33719493 + Nonsense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:33719493T>A uc002xbo.2 - 7 896 c.796A>T c.(796-798)AAA>TAA p.K266* EDEM2_uc010zuv.1_Nonsense_Mutation_p.K225*|EDEM2_uc010zus.1_Nonsense_Mutation_p.K45*|EDEM2_uc002xbq.2_Nonsense_Mutation_p.K229*|EDEM2_uc010zut.1_Nonsense_Mutation_p.K225*|EDEM2_uc002xbp.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbn.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbr.2_Intron|EDEM2_uc010zuu.1_5'UTR NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 266 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) ATGGCTCCTTTCACCAAGTAC 0.527 NaN 0 0 0 0.005524 0 40 357 L3MBTL 26013 broad.mit.edu 37 20 42159033 42159033 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:42159033C>A uc010zwh.1 + 10 1146 c.1100C>A c.(1099-1101)ACG>AAG p.T367K L3MBTL_uc002xkl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkm.2_Missense_Mutation_p.T299K|L3MBTL_uc010ggl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkn.1_Missense_Mutation_p.T58K|L3MBTL_uc002xko.2_5'Flank NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 299 MBT 1. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TTCGAGAAGACGGGCCACAAG 0.577 NaN 1 0 6.49762e-13 0.006122 7.19757e-13 16 220 MATN4 8785 broad.mit.edu 37 20 43932954 43932954 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:43932954G>A uc002xnn.2 - 3 744 c.557C>T c.(556-558)TCG>TTG p.S186L MATN4_uc002xno.2_Missense_Mutation_p.S186L|MATN4_uc002xnp.2_Missense_Mutation_p.S186L|MATN4_uc010zwr.1_Missense_Mutation_p.S134L|MATN4_uc002xnr.1_Missense_Mutation_p.S186L|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 186 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TAGCGGGGGCGATGCCATGGC 0.682 NaN 0 0 0 0.00361 0 49 76 WFDC8 90199 broad.mit.edu 37 20 44181845 44181845 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:44181845G>A uc002xow.2 - 5 595 c.516C>T c.(514-516)GAC>GAT p.D172D WFDC8_uc002xox.2_Silent_p.D172D NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 172 WAP 2. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GACAATCGATGTCACTGTGAC 0.463 NaN 0 0 0 0.00308 0 8 132 SLC2A10 81031 broad.mit.edu 37 20 45354635 45354635 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:45354635C>A uc002xsl.2 + 2 1057 c.960C>A c.(958-960)GCC>GCA p.A320A NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 320 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCAGCTTTGCCGTGCCCATGG 0.657 NaN 1 0 1.10923e-09 0.00278 1.20906e-09 22 114 ADRM1 11047 broad.mit.edu 37 20 60882815 60882815 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:60882815C>T uc002ycn.2 + 7 867 c.787C>T c.(787-789)CAG>TAG p.Q263* ADRM1_uc002yco.2_Nonsense_Mutation_p.Q263* NM_007002 NP_008933 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 precursor 263 proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CCAGCCCATCCAGCTGAGCGA 0.677 NaN 0 0 0 0.00308 0 7 41 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:62120282T>G uc002yfd.1 - 6 1354 c.1253A>C c.(1252-1254)TAC>TCC p.Y418S EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667 NaN 0 0 0 0.007835 0 12 43 MYT1 4661 broad.mit.edu 37 20 62850332 62850332 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:62850332C>T uc002yii.2 + 12 2279 c.1915C>T c.(1915-1917)CGC>TGC p.R639C MYT1_uc002yih.2_Missense_Mutation_p.R341C|MYT1_uc002yij.2_Missense_Mutation_p.R298C NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 639 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCTCTCCACGCGCTGCTGGGA 0.572 NaN 0 0 0 0.001855 0 14 127 N6AMT1 29104 broad.mit.edu 37 21 30255351 30255351 + Silent SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr21:30255351T>C uc002ymo.1 - 2 203 c.177A>G c.(175-177)GTA>GTG p.V59V N6AMT1_uc002ymp.1_Silent_p.V59V|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 59 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 GGAATGCAGATACTACACCAG 0.353 NaN 0 0 0 0.001855 0 12 86 ABCG1 9619 broad.mit.edu 37 21 43704774 43704774 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr21:43704774T>C uc002zaq.2 + 7 945 c.839T>C c.(838-840)CTC>CCC p.L280P ABCG1_uc002zan.2_Missense_Mutation_p.L282P|ABCG1_uc002zam.2_Missense_Mutation_p.L258P|ABCG1_uc002zao.2_Missense_Mutation_p.L277P|ABCG1_uc002zap.2_Missense_Mutation_p.L280P|ABCG1_uc002zar.2_Missense_Mutation_p.L291P|ABCG1_uc011aev.1_Missense_Mutation_p.L291P|ABCG1_uc010gpb.1_5'Flank NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 280 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) AGCGCCAAACTCTTCGAGCTG 0.627 NaN 0 0 0 0.008871 0 15 157 PCNT 5116 broad.mit.edu 37 21 47858159 47858159 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr21:47858159C>T uc002zji.3 + 41 9289 c.9182C>T c.(9181-9183)ACG>ATG p.T3061M PCNT_uc002zjj.2_Missense_Mutation_p.T2864M NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 3061 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) GCGCTCAGCACGGTGACCCAG 0.512 NaN 0 0 0 0.00308 0 8 104 TCN2 6948 broad.mit.edu 37 22 31013431 31013431 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr22:31013431G>A uc003aip.1 + 7 1213 c.1055G>A c.(1054-1056)GGG>GAG p.G352E TCN2_uc003aiq.1_Missense_Mutation_p.G348E|TCN2_uc003air.1_Missense_Mutation_p.G325E NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 352 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTCTGGCCGGGTCCACCGTG 0.572 NaN 0 0 0 0.007291 0 30 75 EFCAB6 64800 broad.mit.edu 37 22 43950813 43950813 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr22:43950813G>T uc003bdy.1 - 27 3799 c.3584C>A c.(3583-3585)ACC>AAC p.T1195N EFCAB6_uc003bdz.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzi.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzj.1_Missense_Mutation_p.T421N NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1195 EF-hand 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TCTGGAGATGGTGTTCGTTTT 0.527 NaN 1 0 4.7796e-09 0.004656 5.1787e-09 26 191 TSEN2 80746 broad.mit.edu 37 3 12571305 12571305 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:12571305C>G uc003bxc.2 + 10 1568 c.1181C>G c.(1180-1182)TCT>TGT p.S394C TSEN2_uc003bwz.2_Missense_Mutation_p.S335C|TSEN2_uc003bxa.2_Missense_Mutation_p.S368C|TSEN2_uc011auq.1_Missense_Mutation_p.S368C|TSEN2_uc003bxb.2_Missense_Mutation_p.S394C|TSEN2_uc011aur.1_Missense_Mutation_p.S303C NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 394 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 TTTGAAGGCTCTCTCCGCAGG 0.403 NaN 0 0 0 0.00361 0 56 120 ZNF445 353274 broad.mit.edu 37 3 44490077 44490077 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:44490077C>T uc003cnf.2 - 8 1434 c.1086G>A c.(1084-1086)AAG>AAA p.K362K ZNF445_uc011azv.1_Silent_p.K350K|ZNF445_uc011azw.1_Silent_p.K362K NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 362 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CACATTGATCCTTCTGCCTGC 0.418 NaN 0 0 0 0.004007 0 16 80 WDR82 80335 broad.mit.edu 37 3 52294439 52294439 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:52294439C>T uc003ddl.2 - 5 787 c.505G>A c.(505-507)GAA>AAA p.E169K WDR82_uc003ddk.2_Missense_Mutation_p.E94K NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 169 WD 3. histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TTGACCATTTCAGAGTTGACA 0.338 NaN 0 0 0 0.003163 0 15 47 DNAH1 25981 broad.mit.edu 37 3 52398863 52398863 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:52398863C>G uc011bef.1 + 34 5607 c.5346C>G c.(5344-5346)CTC>CTG p.L1782L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1782 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGATCTGCCTCCGGGCCATCC 0.637 NaN 0 0 0 0.004007 0 16 51 GNL3 26354 broad.mit.edu 37 3 52725636 52725636 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:52725636G>A uc003dfd.2 + 9 1033 c.860G>A c.(859-861)GGG>GAG p.G287E GNL3_uc003dfe.2_Missense_Mutation_p.G275E|GNL3_uc003dff.2_Missense_Mutation_p.G275E|SNORD69_uc003dfh.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 287 G.|Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GTATCCATGGGGCTTACAAGG 0.323 NaN 0 0 0 0.001168 0 5 31 ACOX2 8309 broad.mit.edu 37 3 58519231 58519231 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:58519231G>T uc003dkl.2 - 5 699 c.524C>A c.(523-525)ACC>AAC p.T175N NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 175 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AAACTCCTGGGTGGCTGCGTC 0.542 NaN OREG0015638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.80697e-09 0.010729 3.04741e-09 10 144 FOXP1 27086 broad.mit.edu 37 3 71050168 71050168 + Silent SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:71050168G>T uc003dol.2 - 9 1340 c.1017C>A c.(1015-1017)GCC>GCA p.A339A FOXP1_uc003dom.2_Silent_p.A263A|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.A339A|FOXP1_uc003dop.2_Silent_p.A339A|FOXP1_uc003doq.1_Silent_p.A338A|FOXP1_uc003doi.2_Silent_p.A239A|FOXP1_uc003doj.2_Silent_p.A239A|FOXP1_uc003dok.2_Silent_p.A152A|FOXP1_uc003dor.1_Silent_p.A117A NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 339 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CTCTACATTGGGCTGTACTTC 0.353 NaN T PAX5 ALL 1 0 0.00741294 0.007413 0.00756564 17 74 DPPA2 151871 broad.mit.edu 37 3 109027098 109027098 + Missense_Mutation SNP A A C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:109027098A>C uc003dxo.2 - 6 686 c.439T>G c.(439-441)TCG>GCG p.S147A NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 147 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 CGTTTCCTCGAACATCGCTGT 0.433 NaN 0 0 0 0.001368 0 13 116 SIDT1 54847 broad.mit.edu 37 3 113303564 113303564 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:113303564G>C uc003eak.2 + 8 1506 c.855G>C c.(853-855)TGG>TGC p.W285C SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.W285C|SIDT1_uc011big.1_Missense_Mutation_p.W38C NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 285 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 ACCAGACCTGGAATCTACAGC 0.358 NaN 0 0 0 0.001368 0 10 96 IGSF11 152404 broad.mit.edu 37 3 118623621 118623621 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:118623621A>G uc003ebw.2 - 6 975 c.728T>C c.(727-729)ATA>ACA p.I243T IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.I219T|IGSF11_uc003eby.2_Missense_Mutation_p.I242T|IGSF11_uc003ebz.2_Missense_Mutation_p.I218T|IGSF11_uc010hqs.2_Missense_Mutation_p.I242T NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 243 Helical; (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GGCTCCAGCTATTAGTCCAAT 0.358 NaN 0 0 0 0.00361 0 59 248 KALRN 8997 broad.mit.edu 37 3 124436142 124436142 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:124436142G>A uc003ehg.2 + 59 8452 c.8325G>A c.(8323-8325)CTG>CTA p.L2775L KALRN_uc003ehk.2_Silent_p.L1078L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2774 Protein kinase. 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 ATGATGAACTGATGGAGGAAA 0.413 NaN 0 0 0 0.00361 0 71 82 UROC1 131669 broad.mit.edu 37 3 126208204 126208204 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:126208204C>T uc003eiz.1 - 17 1655 c.1623G>A c.(1621-1623)CTG>CTA p.L541L UROC1_uc010hsi.1_Silent_p.L601L NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 541 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) GATCTCGGCTCAGGACCACCG 0.582 NaN 0 0 0 0.00361 0 87 148 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.00632 0 10 32 ACAD11 84129 broad.mit.edu 37 3 132337486 132337486 + Missense_Mutation SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:132337486T>C uc003eov.3 - 11 1786 c.1406A>G c.(1405-1407)CAA>CGA p.Q469R ACAD11_uc011blr.1_Missense_Mutation_p.Q80R|ACAD11_uc003eoy.2_Missense_Mutation_p.Q469R NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 469 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 ACCTGGTGCTTGGCAGTTAAA 0.338 NaN 0 0 0 0.003163 0 15 75 RAB6B 51560 broad.mit.edu 37 3 133614257 133614257 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:133614257G>T uc003epy.2 - 1 435 c.54C>A c.(52-54)TTC>TTA p.F18L RAB6B_uc011blu.1_5'UTR NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 18 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 GCTCCCCCAAGAACACCAACT 0.507 NaN 1 0 7.25294e-45 0.00361 8.46435e-45 68 60 ZIC4 84107 broad.mit.edu 37 3 147113765 147113765 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:147113765T>G uc003ewd.1 - 3 835 c.562A>C c.(562-564)AAA>CAA p.K188Q ZIC4_uc003ewc.1_Missense_Mutation_p.K118Q|ZIC4_uc011bno.1_Missense_Mutation_p.K238Q NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 188 C2H2-type 2; atypical. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AGTTTGTATTTGGCTTTGAAG 0.572 NaN 0 0 0 0.010818 0 30 367 PLCH1 23007 broad.mit.edu 37 3 155208658 155208658 + Splice_Site SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:155208658C>G uc011bok.1 - 18 2549 c.2272_splice c.e18-1 p.I758_splice PLCH1_uc011boj.1_Splice_Site_p.I758_splice|PLCH1_uc011bol.1_Splice_Site_p.I740_splice NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGTCAATGATCTATTAAGTAA 0.313 NaN 0 0 0 0.001168 0 6 48 ECT2 1894 broad.mit.edu 37 3 172472376 172472376 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:172472376C>G uc003fii.2 + 2 194 c.56C>G c.(55-57)TCT>TGT p.S19C ECT2_uc010hwv.1_Missense_Mutation_p.S19C|ECT2_uc003fih.2_Missense_Mutation_p.S19C|ECT2_uc003fij.1_Missense_Mutation_p.S19C|ECT2_uc003fik.1_Missense_Mutation_p.S19C|ECT2_uc003fil.1_Missense_Mutation_p.S19C NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 19 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TTGGCAGACTCTTCCATTTTT 0.323 NaN 0 0 0 0.001368 0 13 17 ECT2 1894 broad.mit.edu 37 3 172472419 172472419 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:172472419C>G uc003fii.2 + 2 237 c.99C>G c.(97-99)AAC>AAG p.N33K ECT2_uc010hwv.1_Missense_Mutation_p.N33K|ECT2_uc003fih.2_Missense_Mutation_p.N33K|ECT2_uc003fij.1_Missense_Mutation_p.N33K|ECT2_uc003fik.1_Missense_Mutation_p.N33K|ECT2_uc003fil.1_Missense_Mutation_p.N33K NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 33 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CCAAGGAAAACTTACTTATTG 0.323 NaN 0 0 0 0.00499 0 17 15 ABCC5 10057 broad.mit.edu 37 3 183670874 183670874 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:183670874C>T uc003fmg.2 - 18 2832 c.2667G>A c.(2665-2667)GGG>GGA p.G889G ABCC5_uc011bqt.1_Silent_p.G417G|ABCC5_uc010hxl.2_Silent_p.G889G NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 889 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTAACCTTACCCCGCTTCCTT 0.463 NaN 0 0 0 0.00361 0 57 109 THPO 7066 broad.mit.edu 37 3 184090596 184090596 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:184090596C>A uc003fol.1 - 6 982 c.767G>T c.(766-768)GGA>GTA p.G256V THPO_uc003fom.1_Missense_Mutation_p.G252V|THPO_uc003fon.2_Missense_Mutation_p.W217C|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.W213C|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.W177C NM_000460 NP_000451 P40225 TPO_HUMAN thrombopoietin precursor 256 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity ovary(1) 1 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCACGAGTTCCATTCAAGAG 0.562 NaN 1 0 2.60632e-51 0.00361 3.04816e-51 91 286 DGKG 1608 broad.mit.edu 37 3 186015941 186015941 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:186015941G>A uc003fqa.2 - 4 759 c.222C>T c.(220-222)CAC>CAT p.H74H DGKG_uc003fqb.2_Silent_p.H74H|DGKG_uc003fqc.2_Silent_p.H74H|DGKG_uc011brx.1_Silent_p.H74H NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 74 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCAGGAAGAGGTGAGTGCTCA 0.527 NaN 0 0 0 0.009535 0 33 211 FGFR3 2261 broad.mit.edu 37 4 1806099 1806099 + Missense_Mutation SNP A A G rs121913485 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:1806099A>G uc003gdr.3 + 9 1374 c.1118A>G c.(1117-1119)TAT>TGT p.Y373C FGFR3_uc003gdu.2_Missense_Mutation_p.Y375C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.Y373C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 373 Extracellular (Potential). Y -> C (in KERSEB and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.Y373C(437) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGCAGTGTGTATGCAGGCATC 0.682 Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.00361 0 159 67 C1QTNF7 114905 broad.mit.edu 37 4 15437374 15437374 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:15437374G>C uc011bxb.1 + 2 234 c.7G>C c.(7-9)GTC>CTC p.V3L C1QTNF7_uc003gno.2_Missense_Mutation_p.V10L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V3L NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 3 collagen 0 AAAGATGTTTGTCTTGCTCTA 0.448 NaN 0 0 0 0.009096 0 4 68 CD38 952 broad.mit.edu 37 4 15780060 15780060 + Missense_Mutation SNP C C A rs78988986 byFrequency TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:15780060C>A uc011bxc.1 + 1 130 c.23C>A c.(22-24)CCG>CAG p.P8Q CD38_uc003goj.1_Missense_Mutation_p.P8Q|CD38_uc003gol.1_Missense_Mutation_p.P8Q NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 8 Cytoplasmic (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 GAGTTCAGCCCGGTGTCCGGG 0.647 NaN 1 0 5.20006e-24 0.011902 5.89196e-24 43 96 SLC34A2 10568 broad.mit.edu 37 4 25677816 25677816 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:25677816G>A uc003grr.2 + 13 1599 c.1518G>A c.(1516-1518)CCG>CCA p.P506P SLC34A2_uc003grs.2_Silent_p.P505P|SLC34A2_uc010iev.2_Silent_p.P505P NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 506 Helical; Name=M6; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) ACCCGATCCCGTTCACTCGCC 0.567 NaN 0 0 0 0.012213 0 34 121 DCAF4L1 285429 broad.mit.edu 37 4 41984468 41984468 + Nonsense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:41984468C>G uc003gwk.2 + 1 756 c.659C>G c.(658-660)TCA>TGA p.S220* NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 220 skin(1) 1 CACCAGCAGTCATTTGATACC 0.552 NaN 0 0 0 0.00361 0 70 262 GABRB1 2560 broad.mit.edu 37 4 47033934 47033934 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:47033934C>T uc003gxh.2 + 2 458 c.84C>T c.(82-84)ACC>ACT p.T28T GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.T28T|GABRB1_uc010igg.2_RNA NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 28 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCCTTAGCACCAATGAACCCA 0.458 NaN 0 0 0 0.00278 0 21 258 SCD5 79966 broad.mit.edu 37 4 83557961 83557961 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:83557961G>A uc003hna.2 - 4 905 c.585C>T c.(583-585)TCC>TCT p.S195S NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 195 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGAGCACCACGGAGATCTTAT 0.517 NaN 0 0 0 0.010504 0 21 19 WDFY3 23001 broad.mit.edu 37 4 85672647 85672647 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:85672647G>C uc003hpd.2 - 36 6370 c.5962C>G c.(5962-5964)CTT>GTT p.L1988V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1988 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCAACAAAAGATCAATTAGT 0.358 NaN 0 0 0 0.00245 0 14 72 WDFY3 23001 broad.mit.edu 37 4 85672677 85672677 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:85672677G>C uc003hpd.2 - 36 6340 c.5932C>G c.(5932-5934)CCT>GCT p.P1978A NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1978 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGCTGGCAGGAGTGAGACAG 0.388 NaN 0 0 0 0.003163 0 14 90 KLHL8 57563 broad.mit.edu 37 4 88097923 88097923 + Silent SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:88097923T>G uc011cdb.1 - 6 1579 c.1194A>C c.(1192-1194)TCA>TCC p.S398S KLHL8_uc003hql.1_Silent_p.S398S|KLHL8_uc003hqm.1_Silent_p.S322S|KLHL8_uc003hqn.1_Silent_p.S215S|KLHL8_uc010ikj.1_Silent_p.S47S NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 398 Kelch 2. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TTGTGTTCATTGATGCCTTCA 0.338 NaN 0 0 0 0.012319 0 22 65 AGXT2L1 64850 broad.mit.edu 37 4 109663675 109663675 + Missense_Mutation SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:109663675T>G uc003hzc.2 - 13 1646 c.1465A>C c.(1465-1467)ACA>CCA p.T489P AGXT2L1_uc010imc.2_Missense_Mutation_p.T483P|AGXT2L1_uc011cfm.1_Missense_Mutation_p.T449P|AGXT2L1_uc011cfn.1_Missense_Mutation_p.T416P|AGXT2L1_uc011cfo.1_Missense_Mutation_p.T431P NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 489 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) AGTGAATGTGTATCCGTGCAC 0.438 NaN 0 0 0 0.00499 0 16 127 SYNPO2 171024 broad.mit.edu 37 4 119951548 119951548 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:119951548G>C uc003icm.3 + 4 1814 c.1618G>C c.(1618-1620)GAG>CAG p.E540Q SYNPO2_uc010ina.2_Missense_Mutation_p.E540Q|SYNPO2_uc010inb.2_Missense_Mutation_p.E540Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E468Q NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 540 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CCAAAGAAAGGAGGAAGAGTC 0.517 NaN 0 0 0 0.00361 0 53 54 SPATA5 166378 broad.mit.edu 37 4 123855676 123855676 + Silent SNP A A G rs141742510 by1000genomes TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:123855676A>G uc003iez.3 + 5 1003 c.930A>G c.(928-930)CTA>CTG p.L310L SPATA5_uc003iey.2_Silent_p.L309L NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 310 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 AGAGACTGCTAAAGTTCAGCA 0.348 NaN 0 0 0 0.00245 0 14 64 UCP1 7350 broad.mit.edu 37 4 141489011 141489011 + Nonsense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:141489011G>A uc011chj.1 - 2 323 c.247C>T c.(247-249)CAG>TAG p.Q83* UCP1_uc011chk.1_Nonsense_Mutation_p.Q83* NM_021833 NP_068605 P25874 UCP1_HUMAN uncoupling protein 1 83 Solcar 1.|Helical; Name=2; (Potential). brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding ovary(1) 1 all_hematologic(180;0.162) ATTTGCCGCTGAAGCCCCGCA 0.562 NaN 0 0 0 0.00632 0 28 136 TBC1D9 23158 broad.mit.edu 37 4 141600892 141600892 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:141600892C>G uc010ioj.2 - 4 738 c.466G>C c.(466-468)GAG>CAG p.E156Q NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 156 GRAM 1. intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCTCTTCCTCTGGCATCCCA 0.423 NaN 0 0 0 0.007413 0 18 25 EDNRA 1909 broad.mit.edu 37 4 148406949 148406949 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:148406949C>A uc003iky.2 + 2 808 c.116C>A c.(115-117)ACT>AAT p.T39N EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.T39N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.T39N NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 39 Extracellular (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GATTTCACCACTTTTCGTGGC 0.473 NaN 1 0 1.04594e-18 0.00623 1.17533e-18 41 65 RAPGEF2 9693 broad.mit.edu 37 4 160271403 160271403 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:160271403C>G uc003iqg.3 + 20 3654 c.3344C>G c.(3343-3345)TCT>TGT p.S1115C NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1115 Ser-rich. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TCGCAGCTTTCTTCTCCTCCT 0.333 NaN 0 0 0 0.010729 0 10 29 SPATA4 132851 broad.mit.edu 37 4 177116553 177116553 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:177116553G>T uc003iuo.1 - 1 270 c.161C>A c.(160-162)TCC>TAC p.S54Y NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 54 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) ACGCAGAACGGAACGAGACAA 0.607 NaN 1 0 2.97807e-44 0.00361 3.46805e-44 73 91 ING2 3622 broad.mit.edu 37 4 184431737 184431737 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr4:184431737G>A uc003ivs.1 + 2 604 c.475G>A c.(475-477)GAA>AAA p.E159K ING2_uc011ckk.1_Missense_Mutation_p.E119K NM_001564 NP_001555 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 159 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding ovary(1) 1 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GCGGACCAGTGAAAGCCGTGA 0.458 NaN 0 0 0 0.005524 0 38 48 CDH18 1016 broad.mit.edu 37 5 19473804 19473804 + Missense_Mutation SNP G G A rs147821413 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:19473804G>A uc003jgc.2 - 12 2281 c.1904C>T c.(1903-1905)ACC>ATC p.T635I CDH18_uc003jgd.2_Missense_Mutation_p.T635I|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 635 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCGCCTCAGGGTGATAAAAAG 0.423 NaN 0 0 0 0.007291 0 30 301 AMACR 23600 broad.mit.edu 37 5 33989503 33989503 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:33989503C>T uc003jig.2 - 5 926 c.844G>A c.(844-846)GAG>AAG p.E282K AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E267K|AMACR_uc003jij.2_Missense_Mutation_p.E282K NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 282 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 TGACACCACTCTGCCTTCGTC 0.458 NaN 0 0 0 0.00361 0 63 83 C5orf42 65250 broad.mit.edu 37 5 37169135 37169135 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:37169135C>T uc011cpa.1 - 34 7222 c.6991G>A c.(6991-6993)GAC>AAC p.D2331N C5orf42_uc011coy.1_Missense_Mutation_p.D831N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D1406N|C5orf42_uc003jkr.1_Missense_Mutation_p.D364N NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2331 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACTGAAGAGTCCTGTTGAGGT 0.388 NaN 0 0 0 0.00361 0 55 96 PPAP2A 8611 broad.mit.edu 37 5 54737704 54737704 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:54737704G>A uc003jqa.2 - 4 940 c.524C>T c.(523-525)TCC>TTC p.S175F PPAP2A_uc003jpz.2_Missense_Mutation_p.S176F|PPAP2A_uc003jqb.2_RNA NM_003711 NP_003702 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A isoform 1 175 Helical; (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity ovary(2) 2 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) GCAGTACATGGAAAACGAAGA 0.403 NaN 0 0 0 0.001984 0 6 93 CARTPT 9607 broad.mit.edu 37 5 71015207 71015207 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:71015207G>A uc003kbv.1 + 1 214 c.87G>A c.(85-87)GAG>GAA p.E29E NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 29 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) GTGCCCAGGAGGACGCCGAGC 0.662 NaN 0 0 0 0.001984 0 7 127 BTF3 689 broad.mit.edu 37 5 72798768 72798768 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:72798768G>A uc003kcr.1 + 4 586 c.343G>A c.(343-345)GTG>ATG p.V115M BTF3_uc003kcq.1_Missense_Mutation_p.V71M|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA NM_001037637 NP_001032726 P20290 BTF3_HUMAN basic transcription factor 3 isoform A 115 NAC-A/B. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding 0 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CCAAGGAACAGTGATCCACTT 0.363 NaN 0 0 0 0.00361 0 63 98 HOMER1 9456 broad.mit.edu 37 5 78672000 78672000 + Silent SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:78672000T>C uc003kfy.2 - 9 2000 c.897A>G c.(895-897)AAA>AAG p.K299K HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Silent_p.K169K|HOMER1_uc010jad.2_Silent_p.K125K NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 299 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CCTCCAGGTCTTTGTTCCGAA 0.358 NaN 0 0 0 0.013114 0 44 58 RASGRF2 5924 broad.mit.edu 37 5 80409473 80409473 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:80409473G>T uc003kha.1 + 15 2204 c.2204G>T c.(2203-2205)AGA>ATA p.R735I RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 735 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCTGTGTCCAGAACATCTTCC 0.522 NaN 1 0 1.47197e-15 0.007835 1.6439e-15 41 67 SRFBP1 153443 broad.mit.edu 37 5 121330336 121330336 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:121330336G>A uc003kst.1 + 4 313 c.241G>A c.(241-243)GAT>AAT p.D81N NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TCTTGGTGATGATATCAACTT 0.254 NaN 0 0 0 0.00245 0 14 12 FBN2 2201 broad.mit.edu 37 5 127800489 127800489 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:127800489C>G uc003kuu.2 - 6 1193 c.754G>C c.(754-756)GAG>CAG p.E252Q FBN2_uc003kuv.2_Missense_Mutation_p.E219Q|FBN2_uc003kuw.3_Missense_Mutation_p.E252Q|FBN2_uc003kux.1_Missense_Mutation_p.E252Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 252 TB 1. 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) GGACACATCTCACAGGGATGG 0.607 NaN 0 0 0 0.012213 0 34 121 DDX46 9879 broad.mit.edu 37 5 134102654 134102654 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:134102654C>G uc003kzw.2 + 3 422 c.254C>G c.(253-255)TCT>TGT p.S85C DDX46_uc003kzv.1_Intron NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 85 Arg-rich. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGAAGAAGATCTCGAAGTAGA 0.473 NaN 0 0 0 0.006214 0 10 64 PCDHA3 56145 broad.mit.edu 37 5 140180995 140180995 + Missense_Mutation SNP C C A rs138112183 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:140180995C>A uc003lhf.2 + 1 213 c.213C>A c.(211-213)CAC>CAA p.H71Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H71Q NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 71 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAAAGACACGGGGACCTTC 0.627 NaN 1 0 7.92265e-33 0.00361 9.1869e-33 58 346 PCDHA12 56137 broad.mit.edu 37 5 140256931 140256931 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:140256931G>T uc003lic.2 + 1 2001 c.1874G>T c.(1873-1875)GGG>GTG p.G625V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G625V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 625 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCACGTGGGGCTGTACACT 0.677 NaN 1 0 6.4308e-24 0.00361 7.27134e-24 53 81 PCDHB11 56125 broad.mit.edu 37 5 140579906 140579906 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:140579906G>C uc003liy.2 + 1 559 c.559G>C c.(559-561)GAC>CAC p.D187H PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 187 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTCATTCCAGACAATAGGAA 0.448 NaN 0 0 0 0.001855 0 13 96 C5orf54 63920 broad.mit.edu 37 5 159822193 159822193 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:159822193C>T uc003lye.1 - 2 769 c.305G>A c.(304-306)TGT>TAT p.C102Y C5orf54_uc003lyf.1_Missense_Mutation_p.C102Y NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 102 pancreas(1) 1 ctccttggcacataaatacgc 0 NaN 0 0 0 0.00361 0 55 52 TXNDC5 81567 broad.mit.edu 37 6 7904949 7904949 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:7904949G>A uc003mxv.2 - 2 303 c.271C>T c.(271-273)CAC>TAC p.H91Y TXNDC5_uc003mxw.2_Missense_Mutation_p.H48Y|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR NM_030810 NP_110437 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 1 91 Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) CGCTGGCAGTGTCCACACCTG 0.547 NaN 0 0 0 0.00361 0 55 46 DCDC2 51473 broad.mit.edu 37 6 24205258 24205258 + Missense_Mutation SNP T T A rs150003705 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:24205258T>A uc003ndx.2 - 8 1297 c.995A>T c.(994-996)GAT>GTT p.D332V DCDC2_uc003ndy.2_Missense_Mutation_p.D332V|DCDC2_uc003ndw.2_Missense_Mutation_p.D83V NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 332 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) AACCTGAGTATCTTCATCTTC 0.403 NaN 0 0 0 0.00632 0 25 387 SLC17A3 10786 broad.mit.edu 37 6 25845738 25845738 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:25845738C>T uc003nfi.3 - 11 1245 c.1135G>A c.(1135-1137)GAG>AAG p.E379K SLC17A3_uc003nfk.3_Missense_Mutation_p.E457K NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 379 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 CACCCAAACTCAGGGTCCTGG 0.413 NaN 0 0 0 0.00361 0 73 44 SLC17A2 10246 broad.mit.edu 37 6 25921506 25921506 + Silent SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:25921506A>T uc011dkb.1 - 3 458 c.375T>A c.(373-375)GGT>GGA p.G125G SLC17A2_uc011dkc.1_Silent_p.G125G|SLC17A2_uc003nfl.2_Silent_p.G125G O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 125 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 AGATCAGCAAACCAGCACCAA 0.468 NaN 0 0 0 0.008871 0 19 129 ZNF184 7738 broad.mit.edu 37 6 27425078 27425078 + Silent SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:27425078T>A uc003njj.2 - 3 997 c.186A>T c.(184-186)ACA>ACT p.T62T ZNF184_uc010jqv.2_Silent_p.T62T|ZNF184_uc003nji.2_Silent_p.T62T NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGACCAGGTGTGTATAATTTT 0.448 NaN 0 0 0 0.001368 0 12 134 OR2B2 81697 broad.mit.edu 37 6 27879892 27879892 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:27879892A>T uc011dkw.1 - 1 206 c.206T>A c.(205-207)CTG>CAG p.L69Q NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCAAAGGTCCAGGAGTGAGAG 0.413 NaN 0 0 0 0.005524 0 37 80 ZNF193 7746 broad.mit.edu 37 6 28200426 28200426 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:28200426G>C uc003nkq.1 + 4 770 c.655G>C c.(655-657)GAG>CAG p.E219Q ZNF193_uc003nkr.1_Missense_Mutation_p.E219Q|ZNF193_uc010jqz.1_Missense_Mutation_p.E270Q NM_006299 NP_006290 O15535 ZN193_HUMAN zinc finger protein 193 219 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AATGTTTAATGAGCAGACCTG 0.458 NaN 0 0 0 0.001368 0 13 85 PPP1R11 6992 broad.mit.edu 37 6 30035194 30035194 + Nonsense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:30035194G>T uc003npb.2 + 1 263 c.7G>T c.(7-9)GAG>TAG p.E3* PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA NM_021959 NP_068778 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) 3 soluble fraction protein binding|protein phosphatase inhibitor activity ovary(1)|lung(1)|skin(1) 3 AGCCATGGCCGAGGCAGGGGC 0.607 NaN 1 0 1.45844e-13 0.002836 1.62214e-13 31 171 KIAA1949 170954 broad.mit.edu 37 6 30652748 30652748 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:30652748C>G uc003nra.2 - 2 1279 c.1048G>C c.(1048-1050)GAG>CAG p.E350Q KIAA1949_uc003nrb.3_Missense_Mutation_p.E350Q NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 350 cytoplasm|cytoskeleton actin binding 0 GTTTGAGCCTCTATGTCCCTG 0.577 NaN 0 0 0 0.003163 0 16 295 CCHCR1 54535 broad.mit.edu 37 6 31110756 31110756 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:31110756G>C uc003nsr.3 - 17 2331 c.2208C>G c.(2206-2208)ACC>ACG p.T736T CCHCR1_uc011dne.1_Silent_p.T722T|CCHCR1_uc003nsq.3_Silent_p.T789T|CCHCR1_uc003nsp.3_Silent_p.T825T NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 736 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 TGGACTCCCTGGTGGGCACTG 0.532 NaN 0 0 0 0.00361 0 61 779 C6orf27 80737 broad.mit.edu 37 6 31733741 31733741 + Silent SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:31733741C>G uc011dog.1 - 16 2656 c.2418G>C c.(2416-2418)GTG>GTC p.V806V NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 806 extracellular region ovary(3) 3 CCCCTGCAGTCACAGTCACCA 0.637 NaN 0 0 0 0.00278 0 24 440 DAXX 1616 broad.mit.edu 37 6 33289243 33289243 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:33289243C>T uc003oec.2 - 3 513 c.309G>A c.(307-309)GCG>GCA p.A103A DAXX_uc011drd.1_Silent_p.A28A|DAXX_uc011dre.1_Silent_p.A115A|DAXX_uc003oed.2_Silent_p.A103A|DAXX_uc010juw.2_Silent_p.A28A NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 103 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.A103fs*40(1) pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 TGCAGAACTCCGCCGAGGCCA 0.562 NaN Mis|F|N Pancreatic neuroendocrine tumors 0 0 0 0.008291 0 10 271 LHFPL5 222662 broad.mit.edu 37 6 35773642 35773642 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:35773642C>G uc003olg.1 + 1 572 c.195C>G c.(193-195)TTC>TTG p.F65L NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 65 Helical; (Potential). integral to membrane skin(1) 1 TCGGCCTTTTCTCCTACTGCG 0.587 NaN 0 0 0 0.00361 0 311 165 KIF6 221458 broad.mit.edu 37 6 39545887 39545887 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:39545887C>A uc003oot.2 - 10 1221 c.1126G>T c.(1126-1128)GCC>TCC p.A376S KIF6_uc010jxa.1_Missense_Mutation_p.A167S|KIF6_uc011dua.1_Missense_Mutation_p.A376S|KIF6_uc010jxb.1_Missense_Mutation_p.A376S NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 376 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GTGACCATGGCCAGTTCATCC 0.428 NaN 1 0 2.4624e-09 0.008871 2.67865e-09 19 201 TREM2 54209 broad.mit.edu 37 6 41126740 41126740 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:41126740A>T uc003opy.2 - 4 649 c.547T>A c.(547-549)TTT>ATT p.F183I TREM2_uc003opz.2_Missense_Mutation_p.L226H|TREM2_uc010jxl.1_Intron NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 183 Helical; (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGATGAGAAAGATGCAGGCC 0.567 NaN 0 0 0 0.008291 0 11 104 PRICKLE4 29964 broad.mit.edu 37 6 41754506 41754506 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:41754506C>T uc011duf.1 + 8 1042 c.794C>T c.(793-795)ACT>ATT p.T265I PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN over-expressed breast tumor protein 225 nucleus zinc ion binding 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACAGGGGAGACTGGACTCGAC 0.612 NaN 0 0 0 0.001855 0 14 193 HTR1B 3351 broad.mit.edu 37 6 78172393 78172393 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:78172393G>A uc003pil.1 - 1 728 c.728C>T c.(727-729)ACG>ATG p.T243M NM_000863 NP_000854 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B 243 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity 0 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CCTGTTGGGCGTCTGTTTCAA 0.612 NaN 0 0 0 0.00361 0 69 37 DSE 29940 broad.mit.edu 37 6 116757645 116757645 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:116757645C>T uc003pws.2 + 6 2208 c.2014C>T c.(2014-2016)CAG>TAG p.Q672* DSE_uc011ebg.1_Nonsense_Mutation_p.Q691*|DSE_uc003pwt.2_Nonsense_Mutation_p.Q672*|DSE_uc003pwu.2_Nonsense_Mutation_p.Q339* NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 672 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TATAGATGTTCAGAGCTTCAC 0.517 NaN 0 0 0 0.00361 0 55 127 VNN1 8876 broad.mit.edu 37 6 133014264 133014264 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:133014264A>G uc003qdo.2 - 4 745 c.725T>C c.(724-726)TTG>TCG p.L242S NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 242 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) CAAATGTGGCAAAACATTCAT 0.428 NaN 0 0 0 0.00361 0 50 34 STX11 8676 broad.mit.edu 37 6 144508445 144508445 + Silent SNP C C G rs145774130 byFrequency TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:144508445C>G uc003qks.3 + 2 873 c.681C>G c.(679-681)CTC>CTG p.L227L NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 227 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TACACGAGCTCTTCTTGCAGA 0.652 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.006999 0 41 25 IYD 389434 broad.mit.edu 37 6 150713540 150713540 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:150713540G>C uc003qnu.1 + 3 570 c.430G>C c.(430-432)GAC>CAC p.D144H IYD_uc003qnv.1_Missense_Mutation_p.D144H|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.D144H|IYD_uc010kik.1_Missense_Mutation_p.D62H NM_203395 NP_981932 Q6PHW0 IYD1_HUMAN iodotyrosine dehalogenase 1 isoform 2 144 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane ovary(2) 2 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) GAAGGACCCAGACGTGAAGCA 0.493 NaN 0 0 0 0.012319 0 23 196 TIAM2 26230 broad.mit.edu 37 6 155451184 155451184 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:155451184G>T uc003qqb.2 + 6 2100 c.827G>T c.(826-828)AGT>ATT p.S276I TIAM2_uc003qqe.2_Missense_Mutation_p.S276I NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 276 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) CCTGACCCCAGTCTCCATGCC 0.602 NaN 1 0 9.4991e-31 0.00361 1.09451e-30 68 31 CARD11 84433 broad.mit.edu 37 7 2978460 2978460 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:2978460C>T uc003smv.2 - 7 1274 c.870G>A c.(868-870)GGG>GGA p.G290G NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 290 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGCTGCGCTTCCCGGCCTGGG 0.632 NaN Mis DLBCL 0 0 0 0.00308 0 7 65 GLI3 2737 broad.mit.edu 37 7 42005113 42005113 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:42005113C>A uc011kbh.1 - 15 3649 c.3558G>T c.(3556-3558)CCG>CCT p.P1186P GLI3_uc011kbg.1_Silent_p.P1127P NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1186 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CGCGAGTCTGCGGCACAGCGG 0.652 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 1 0 3.61922e-38 0.00361 4.20571e-38 92 179 GLI3 2737 broad.mit.edu 37 7 42005561 42005561 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:42005561G>A uc011kbh.1 - 15 3201 c.3110C>T c.(3109-3111)ACG>ATG p.T1037M GLI3_uc011kbg.1_Missense_Mutation_p.T978M NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1037 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTCCGCGGACGTGGCCATCGC 0.697 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.007413 0 17 60 OGDH 4967 broad.mit.edu 37 7 44736090 44736090 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:44736090G>T uc003tln.2 + 14 1943 c.1834G>T c.(1834-1836)GAT>TAT p.D612Y OGDH_uc011kbx.1_Missense_Mutation_p.D608Y|OGDH_uc011kby.1_Missense_Mutation_p.D462Y|OGDH_uc003tlp.2_Missense_Mutation_p.D623Y|OGDH_uc011kbz.1_Missense_Mutation_p.D407Y|OGDH_uc003tlo.1_Missense_Mutation_p.D445Y NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 612 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TCTGACGGAGGATATTCTGAC 0.527 NaN 1 0 1.96292e-10 0.010504 2.1525e-10 21 102 OGDH 4967 broad.mit.edu 37 7 44737336 44737336 + Silent SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:44737336G>C uc003tln.2 + 17 2422 c.2313G>C c.(2311-2313)CGG>CGC p.R771R OGDH_uc011kbx.1_Silent_p.R767R|OGDH_uc011kby.1_Silent_p.R621R|OGDH_uc003tlp.2_Silent_p.R782R|OGDH_uc011kbz.1_Silent_p.R566R NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 771 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) AGTGGGTGCGGCAGAATGGCA 0.602 NaN 0 0 0 0.004482 0 7 148 CACNA2D1 781 broad.mit.edu 37 7 81746455 81746455 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:81746455C>T uc003uhr.1 - 6 687 c.431G>A c.(430-432)AGG>AAG p.R144K NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 144 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AGGTTTTATCCTCTGGCTGCC 0.358 NaN 0 0 0 0.006214 0 10 46 PCLO 27445 broad.mit.edu 37 7 82595105 82595105 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:82595105T>A uc003uhx.2 - 4 4288 c.3999A>T c.(3997-3999)GAA>GAT p.E1333D PCLO_uc003uhv.2_Missense_Mutation_p.E1333D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTTCCCAGGTTCCACCTGAT 0.373 NaN 0 0 0 0.004289 0 32 81 GRM3 2913 broad.mit.edu 37 7 86416022 86416022 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:86416022C>T uc003uid.2 + 3 2013 c.914C>T c.(913-915)GCG>GTG p.A305V GRM3_uc010lef.2_Missense_Mutation_p.A303V|GRM3_uc010leg.2_Missense_Mutation_p.A177V|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 305 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGCTGGGGCGCGCAGGAGAGC 0.677 NaN 0 0 0 0.003163 0 15 83 GAL3ST4 79690 broad.mit.edu 37 7 99758066 99758066 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:99758066C>T uc003utt.2 - 3 1963 c.946G>A c.(946-948)GAT>AAT p.D316N C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D316N|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D254N NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 316 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACAGGGCATCTGCCAGCAGA 0.557 NaN 0 0 0 0.00361 0 47 147 TRIP6 7205 broad.mit.edu 37 7 100469281 100469281 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:100469281C>T uc003uww.2 + 7 1286 c.1116C>T c.(1114-1116)CTC>CTT p.L372L NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 372 LIM zinc-binding 2. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) ACCGCGGCCTCGACGGCATCC 0.622 NaN 0 0 0 0.00623 0 35 49 MUC17 140453 broad.mit.edu 37 7 100682960 100682960 + Missense_Mutation SNP A A T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:100682960A>T uc003uxp.1 + 3 8316 c.8263A>T c.(8263-8265)AGT>TGT p.S2755C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2755 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCCATTAACAAGTATACTTGT 0.493 NaN 0 0 0 0.012319 0 22 650 MUC17 140453 broad.mit.edu 37 7 100693838 100693838 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:100693838G>A uc003uxp.1 + 7 12849 c.12796G>A c.(12796-12798)GAC>AAC p.D4266N MUC17_uc010lho.1_Intron NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4266 Extracellular (Potential).|SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GACAGTATTGGACAATGCCAC 0.463 NaN 0 0 0 0.004656 0 27 80 RELN 5649 broad.mit.edu 37 7 103197585 103197585 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:103197585G>C uc003vca.2 - 38 5796 c.5636C>G c.(5635-5637)TCT>TGT p.S1879C RELN_uc010liz.2_Missense_Mutation_p.S1879C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1879 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TAACAGAATAGAGTGAGATCT 0.378 NaN 0 0 0 0.001168 0 6 53 ZC3HAV1 56829 broad.mit.edu 37 7 138764694 138764694 + Silent SNP T T C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:138764694T>C uc003vun.2 - 4 1381 c.993A>G c.(991-993)TTA>TTG p.L331L ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L331L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 331 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TGCCGTTCTCTAAAAACCTCT 0.552 NaN 0 0 0 0.00361 0 63 70 TAS2R39 259285 broad.mit.edu 37 7 142880649 142880649 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:142880649C>A uc011ksw.1 + 1 138 c.138C>A c.(136-138)CTC>CTA p.L46L NM_176881 NP_795362 P59534 T2R39_HUMAN taste receptor, type 2, member 39 46 Helical; Name=1; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 Melanoma(164;0.059) CTGAATACCTCATTGGTATCA 0.413 NaN 1 0 0.00307968 0.00308 0.00315493 7 53 MFHAS1 9258 broad.mit.edu 37 8 8748771 8748771 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:8748771C>G uc003wsj.1 - 1 2361 c.1798G>C c.(1798-1800)GAC>CAC p.D600H NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 600 Roc. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) AGGTTCTTGTCCGAAACGCCA 0.642 NaN 0 0 0 0.001984 0 7 104 DLC1 10395 broad.mit.edu 37 8 12957634 12957634 + Missense_Mutation SNP T T A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:12957634T>A uc003wwm.2 - 9 2656 c.2212A>T c.(2212-2214)ACG>TCG p.T738S DLC1_uc003wwk.1_Missense_Mutation_p.T301S|DLC1_uc003wwl.1_Missense_Mutation_p.T335S|DLC1_uc011kxx.1_Missense_Mutation_p.T227S NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 738 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTGGTCTGCGTGGAGTTGGAA 0.617 NaN 0 0 0 0.003954 0 25 81 DLC1 10395 broad.mit.edu 37 8 12958064 12958064 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:12958064G>A uc003wwm.2 - 9 2226 c.1782C>T c.(1780-1782)GTC>GTT p.V594V DLC1_uc003wwk.1_Silent_p.V157V|DLC1_uc003wwl.1_Silent_p.V191V|DLC1_uc011kxx.1_Silent_p.V83V NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 594 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TGAGGCTGCGGACGGAAGACA 0.697 NaN 0 0 0 0.00499 0 17 118 MTUS1 57509 broad.mit.edu 37 8 17611869 17611869 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:17611869G>C uc003wxv.2 - 2 1922 c.1448C>G c.(1447-1449)ACA>AGA p.T483R MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.T483R|MTUS1_uc010lsz.2_Missense_Mutation_p.T483R NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 483 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CGTTTTGATTGTTGATTTTCC 0.378 NaN 0 0 0 0.00361 0 75 143 UNC5D 137970 broad.mit.edu 37 8 35579728 35579728 + Missense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:35579728G>T uc003xjr.1 + 9 1446 c.1118G>T c.(1117-1119)AGC>ATC p.S373I UNC5D_uc003xjs.1_Missense_Mutation_p.S368I|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G131V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 373 Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGTCTTTCAGGCATTGAGAAT 0.493 NaN 1 0 1.06961e-07 0.00308 1.12754e-07 8 182 RAB11FIP1 80223 broad.mit.edu 37 8 37730513 37730513 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:37730513C>T uc003xkm.1 - 4 1851 c.1807G>A c.(1807-1809)GCA>ACA p.A603T RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 603 Ser-rich. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ATGGGAGCTGCTATGGGAGAT 0.547 NaN 0 0 0 0.002836 0 34 111 RGS22 26166 broad.mit.edu 37 8 101075735 101075735 + Missense_Mutation SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:101075735A>G uc003yjb.1 - 8 1456 c.1261T>C c.(1261-1263)TTT>CTT p.F421L RGS22_uc003yja.1_Missense_Mutation_p.F240L|RGS22_uc003yjc.1_Missense_Mutation_p.F409L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 421 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CCTTTTATAAATTTCTTAAAT 0.388 NaN 0 0 0 0.006122 0 15 68 PKHD1L1 93035 broad.mit.edu 37 8 110489537 110489537 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:110489537C>T uc003yne.2 + 53 9105 c.9001C>T c.(9001-9003)CAA>TAA p.Q3001* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3001 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATTAATTTCCAAGCTTACTG 0.418 NaN HNSCC(38;0.096) 0 0 0 0.012213 0 34 45 GSDMD 79792 broad.mit.edu 37 8 144643221 144643221 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:144643221C>T uc010mfe.2 + 8 1332 c.629C>T c.(628-630)TCA>TTA p.S210L uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.S258L|GSDMD_uc003yyi.2_3'UTR|GSDMD_uc003yyg.2_Missense_Mutation_p.S210L|GSDMD_uc003yyh.2_Missense_Mutation_p.S141L NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 210 0 ACCATCCCCTCAGGCAGCACC 0.667 NaN 0 0 0 0.001168 0 6 50 TTC39B 158219 broad.mit.edu 37 9 15187022 15187022 + Silent SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:15187022C>T uc003zlr.1 - 15 1330 c.1209G>A c.(1207-1209)GTG>GTA p.V403V TTC39B_uc003zlq.1_Silent_p.V372V|TTC39B_uc011lmp.1_Silent_p.V304V|TTC39B_uc010mie.1_Silent_p.V401V|TTC39B_uc011lmq.1_Silent_p.V390V|TTC39B_uc011lmr.1_Silent_p.V334V|TTC39B_uc010mif.1_Silent_p.V403V|TTC39B_uc003zlp.1_5'UTR NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 403 binding ovary(1) 1 CTTTCAAGAACACATAAGTTG 0.383 NaN 0 0 0 0.007835 0 39 39 DMRTA1 63951 broad.mit.edu 37 9 22451128 22451128 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:22451128C>T uc003zpp.1 + 2 958 c.733C>T c.(733-735)CAG>TAG p.Q245* NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 245 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|skin(1) 2 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CAAATCCCATCAGCTTTACCT 0.398 NaN 0 0 0 0.003163 0 15 17 STOML2 30968 broad.mit.edu 37 9 35102793 35102793 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:35102793G>C uc003zwi.2 - 2 136 c.73C>G c.(73-75)CCG>GCG p.P25A STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.P25A|STOML2_uc003zwk.2_5'UTR NM_013442 NP_038470 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 25 cytoskeleton receptor binding 0 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCGCGGCGCGGAGCGCGGCCA 0.647 NaN 0 0 0 0.003271 0 34 77 EPB41L4B 54566 broad.mit.edu 37 9 111970252 111970252 + Silent SNP A A G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:111970252A>G uc004bdz.1 - 18 2125 c.1830T>C c.(1828-1830)TGT>TGC p.C610C NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 610 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TCAGAATGTTACACTTCACAT 0.428 NaN 0 0 0 0.008871 0 19 119 HSDL2 84263 broad.mit.edu 37 9 115216316 115216316 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:115216316G>C uc004bga.1 + 9 982 c.889G>C c.(889-891)GAG>CAG p.E297Q HSDL2_uc011lwv.1_Missense_Mutation_p.E176Q|HSDL2_uc004bgb.1_Missense_Mutation_p.E131Q|HSDL2_uc004bgc.1_Missense_Mutation_p.E224Q|HSDL2_uc011lww.1_Missense_Mutation_p.E92Q NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 297 peroxisome oxidoreductase activity|sterol binding 0 ATTCAAAGAAGAGAAACTGCA 0.403 NaN 0 0 0 0.006214 0 9 49 CRB2 286204 broad.mit.edu 37 9 126128573 126128573 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:126128573G>A uc004bnx.1 + 4 774 c.682G>A c.(682-684)GCA>ACA p.A228T CRB2_uc004bnw.1_Missense_Mutation_p.A228T NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 228 Extracellular (Potential).|EGF-like 5. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GCTGGAGTGCGCATCGGCGCC 0.741 NaN 0 0 0 0.001168 0 5 3 SPTAN1 6709 broad.mit.edu 37 9 131356499 131356499 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131356499G>A uc004bvl.3 + 24 3374 c.3261G>A c.(3259-3261)TTG>TTA p.L1087L SPTAN1_uc011mbg.1_Silent_p.L1067L|SPTAN1_uc011mbh.1_Silent_p.L1099L|SPTAN1_uc004bvm.3_Silent_p.L1087L|SPTAN1_uc004bvn.3_Silent_p.L1067L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1087 Spectrin 11. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AAGGCATGTTGGAGAAGAGTT 0.468 NaN 0 0 0 0.010771 0 43 36 SPTAN1 6709 broad.mit.edu 37 9 131356542 131356542 + Nonsense_Mutation SNP G G T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131356542G>T uc004bvl.3 + 24 3417 c.3304G>T c.(3304-3306)GAA>TAA p.E1102* SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E1082*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E1114*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1102*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1082* NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1102 Spectrin 12. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAAGCGAATGAACTACAGCA 0.468 NaN 1 0 1.19451e-25 0.00361 1.3648e-25 48 38 SPTAN1 6709 broad.mit.edu 37 9 131362362 131362362 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131362362G>A uc004bvl.3 + 27 3660 c.3547G>A c.(3547-3549)GAA>AAA p.E1183K SPTAN1_uc011mbh.1_Missense_Mutation_p.E1195K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1183K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1163K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1183 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAATAGGATGAAACTGATTC 0.438 NaN 0 0 0 0.003755 0 34 20 SPTAN1 6709 broad.mit.edu 37 9 131367332 131367332 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131367332G>C uc004bvl.3 + 30 3852 c.3739G>C c.(3739-3741)GAA>CAA p.E1247Q SPTAN1_uc011mbh.1_Missense_Mutation_p.E1259Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1247Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1227Q NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1247 Spectrin 14. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAAACCAAAGAATGGATTGA 0.413 NaN 0 0 0 0.005524 0 37 25 SPTAN1 6709 broad.mit.edu 37 9 131378100 131378100 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131378100G>A uc004bvl.3 + 40 5436 c.5323G>A c.(5323-5325)GAC>AAC p.D1775N SPTAN1_uc004bvm.3_Missense_Mutation_p.D1780N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1755N NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1775 Spectrin 19. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGACATGGATGACGAGGAGTC 0.567 NaN 0 0 0 0.010771 0 44 25 SPTAN1 6709 broad.mit.edu 37 9 131394948 131394948 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131394948G>A uc004bvl.3 + 54 7209 c.7096G>A c.(7096-7098)GAA>AAA p.E2366K SPTAN1_uc004bvm.3_Missense_Mutation_p.E2371K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2346K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E133K|SPTAN1_uc004bvp.3_Missense_Mutation_p.E109K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2366 EF-hand 2. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGAGGAAGGGGAACCTGACCC 0.567 NaN 0 0 0 0.00361 0 58 35 WDR34 89891 broad.mit.edu 37 9 131397156 131397156 + Silent SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:131397156G>A uc004bvq.1 - 7 1150 c.1026C>T c.(1024-1026)TTC>TTT p.F342F WDR34_uc004bvs.1_Silent_p.F333F|WDR34_uc004bvr.1_Silent_p.F314F NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 342 cytoplasm central_nervous_system(2)|skin(1) 3 CAAAGCTGGAGAAGGCCACTG 0.647 NaN OREG0019522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 26 14 KCNT1 57582 broad.mit.edu 37 9 138650354 138650354 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:138650354G>A uc011mdq.1 + 10 928 c.854G>A c.(853-855)GGG>GAG p.G285E KCNT1_uc011mdr.1_Missense_Mutation_p.G112E|KCNT1_uc010nbf.2_Missense_Mutation_p.G237E|KCNT1_uc004cgo.1_Missense_Mutation_p.G34E NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 285 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GTTTTCACGGGGTGAGTGCCG 0.612 NaN 0 0 0 0.004289 0 33 31 SEC16A 9919 broad.mit.edu 37 9 139348776 139348776 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:139348776G>A uc004chx.2 - 21 6170 c.5861C>T c.(5860-5862)CCG>CTG p.P1954L SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'UTR|SEC16A_uc004chu.2_Missense_Mutation_p.P139L|SEC16A_uc004chv.3_Missense_Mutation_p.P1344L|SEC16A_uc004chw.2_Missense_Mutation_p.P1954L|SEC16A_uc010nbn.2_Missense_Mutation_p.P1954L NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1776 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GAGCGTCTGCGGAGCTGCATG 0.602 NaN 0 0 0 0.004672 0 2 5 XG 7499 broad.mit.edu 37 X 2670373 2670373 + Silent SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:2670373C>A uc011mhg.1 + 1 281 c.58C>A c.(58-60)CGA>AGA p.R20R XG_uc010ndb.2_RNA|XG_uc004cqp.2_Silent_p.R20R NM_175569 NP_780778 P55808 XG_HUMAN XG glycoprotein isoform 1 precursor 20 integral to membrane|plasma membrane ovary(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AATGCACGCCCGAGGTAAGAG 0.483 NaN 1 0 3.17917e-66 0.00361 3.73416e-66 114 190 RPGR 6103 broad.mit.edu 37 X 38156597 38156597 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:38156597C>T uc004ded.1 - 11 1522 c.1354G>A c.(1354-1356)GAG>AAG p.E452K RPGR_uc004deb.2_Missense_Mutation_p.E452K|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.E137K NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 452 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 AGGTTTCTCTCAGAACATCGT 0.453 NaN 0 0 0 0.010504 0 21 36 SLC35A2 7355 broad.mit.edu 37 X 48762196 48762196 + Silent SNP G G A rs146079657 byFrequency TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:48762196G>A uc004dlo.1 - 4 994 c.990C>T c.(988-990)CTC>CTT p.L330L SLC35A2_uc011mml.1_Silent_p.L343L|SLC35A2_uc004dlp.1_Silent_p.L330L|SLC35A2_uc011mmm.1_Silent_p.L358L|SLC35A2_uc011mmn.1_Silent_p.L269L|SLC35A2_uc004dlr.1_Missense_Mutation_p.S184L|SLC35A2_uc004dlq.2_Intron NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 330 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 CACCAATGACGAGTCCAGCGC 0.607 NaN 0 0 0 0.005443 0 24 5 KCND1 3750 broad.mit.edu 37 X 48826378 48826378 + Missense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:48826378C>A uc004dlx.1 - 1 1874 c.301G>T c.(301-303)GGG>TGG p.G101W KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 101 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 TGCAGCCGCCCCGTTCGGTAG 0.582 NaN 1 0 0.000274275 0.004482 0.000282038 8 32 CCDC120 90060 broad.mit.edu 37 X 48921477 48921477 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:48921477G>A uc010nik.2 + 5 776 c.269G>A c.(268-270)CGC>CAC p.R90H CCDC120_uc011mmq.1_Missense_Mutation_p.R78H|CCDC120_uc004dmf.2_Missense_Mutation_p.R90H|CCDC120_uc010nil.2_Missense_Mutation_p.R90H|CCDC120_uc011mmr.1_Missense_Mutation_p.R90H|CCDC120_uc011mms.1_Missense_Mutation_p.R78H NM_033626 NP_296375 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 isoform 3 90 protein binding pancreas(1) 1 CCCACAGCCCGCGCCTACCCT 0.682 NaN 0 0 0 0.009096 0 4 22 HEPH 9843 broad.mit.edu 37 X 65427138 65427138 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:65427138G>A uc011moz.1 + 14 2462 c.2402G>A c.(2401-2403)CGG>CAG p.R801Q HEPH_uc004dwn.2_Missense_Mutation_p.R801Q|HEPH_uc004dwo.2_Missense_Mutation_p.R531Q|HEPH_uc010nkr.2_Missense_Mutation_p.R609Q|HEPH_uc011mpa.1_Missense_Mutation_p.R801Q|HEPH_uc010nks.2_Missense_Mutation_p.R90Q NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 798 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 AGGATCCCTCGGCCAAGGACT 0.478 NaN 0 0 0 0.001855 0 14 3 PDZD4 57595 broad.mit.edu 37 X 153072223 153072223 + Missense_Mutation SNP C C G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chrX:153072223C>G uc004fiz.1 - 4 710 c.460G>C c.(460-462)GAG>CAG p.E154Q PDZD4_uc004fiy.1_Missense_Mutation_p.E79Q|PDZD4_uc004fix.2_Missense_Mutation_p.E58Q|PDZD4_uc004fja.1_Missense_Mutation_p.E160Q|PDZD4_uc011mze.1_Missense_Mutation_p.E45Q NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 154 PDZ. 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) CCCAGGTCCTCCTCGTCGTCC 0.627 NaN 0 0 0 0.00361 0 67 16 SPEN 23013 broad.mit.edu 37 1 16260122 16260130 + In_Frame_Del DEL AGCGATCCA AGCGATCCA - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr1:16260122_16260130delAGCGATCCA uc001axk.1 + 11 7591_7599 c.7387_7395delAGCGATCCA c.(7387-7395)AGCGATCCAdel p.SDP2463del SPEN_uc010obp.1_In_Frame_Del_p.SDP2422del NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2463_2465 RID.|Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GACCCCACCCAGCGATCCAAGCATCCCCA 0.603 NaN NaN NaN NaN NaN NaN 12 117 --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr11:64888248_64888250delTCT uc001ocx.2 - 5 412_414 c.305_307delAGA c.(304-309)AAGACA>ACA p.K102del FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank NM_001997 NP_001988 P35544 UBIM_HUMAN ubiquitin-like protein fubi and ribosomal Error:Variant_position_missing_in_P35544_after_alignment 0 GCCCGACCTGTCTTCTTCTTCTT 0.542 NaN NaN NaN NaN NaN NaN 7 282 --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr12:122812690_122812691insT uc001ucg.1 - 16 3158_3159 c.3052_3053insA c.(3052-3054)AGCfs p.S1018fs CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1018 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 NaN NaN NaN NaN NaN NaN 20 389 --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:20296055_20296056insT uc010tkv.1 + 1 448_449 c.448_449insT c.(448-450)CTTfs p.L150fs NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.53 NaN NaN NaN NaN NaN NaN 57 347 --- --- SLC10A1 6554 broad.mit.edu 37 14 70252841 70252841 + Frame_Shift_Del DEL C C - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr14:70252841delC uc001xlr.2 - 2 674 c.540delG c.(538-540)CGGfs p.R180fs NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 180 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) TGTATTGTGGCCGTTTGGATT 0.438 NaN NaN NaN NaN NaN NaN 36 116 --- --- RPL23 9349 broad.mit.edu 37 17 37008873 37008892 + Frame_Shift_Del DEL TGGTTTGCCTTTCTTGACTG TGGTTTGCCTTTCTTGACTG - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:37008873_37008892delTGGTTTGCCTTTCTTGACTG uc002hqx.1 - 3 281_300 c.191_210delCAGTCAAGAAAGGCAAACCA c.(190-210)ACAGTCAAGAAAGGCAAACCAfs p.T64fs RPL23_uc002hqw.1_Frame_Shift_Del_p.T5fs|RPL23_uc002hqy.1_Frame_Shift_Del_p.T64fs NM_000978 NP_000969 P62829 RL23_HUMAN ribosomal protein L23 64_70 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome 0 TTCTGAGCTCTGGTTTGCCTTTCTTGACTGTGGCCATCAC 0.482 NaN NaN NaN NaN NaN NaN 11 133 --- --- NBR1 4077 broad.mit.edu 37 17 41352619 41352619 + Frame_Shift_Del DEL T T - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:41352619delT uc010czd.2 + 17 2602 c.2462delT c.(2461-2463)CTGfs p.L821fs NBR1_uc010diz.2_Frame_Shift_Del_p.L821fs|NBR1_uc010whu.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whv.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whw.1_Frame_Shift_Del_p.L800fs NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 821 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) CCACCGTCACTGCCCAGGTAC 0.517 NaN NaN NaN NaN NaN NaN 41 94 --- --- GNA13 10672 broad.mit.edu 37 17 63010685 63010696 + In_Frame_Del DEL ATTGTTTCAAAA ATTGTTTCAAAA - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr17:63010685_63010696delATTGTTTCAAAA uc002jfc.2 - 4 1022_1033 c.813_824delTTTTGAAACAAT c.(811-825)ATTTTTGAAACAATC>ATC p.271_275IFETI>I GNA13_uc010wqh.1_In_Frame_Del_p.176_180IFETI>I NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 271_275 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 GTTATTGACGATTGTTTCAAAAATGTTCAGAG 0.396 NaN NaN NaN NaN NaN NaN 12 205 --- --- ZNF574 64763 broad.mit.edu 37 19 42584313 42584319 + Frame_Shift_Del DEL GGGGAGC GGGGAGC - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr19:42584313_42584319delGGGGAGC uc002osm.3 + 2 1724_1730 c.1555_1561delGGGGAGC c.(1555-1563)GGGGAGCGGfs p.G519fs ZNF574_uc002osk.3_Frame_Shift_Del_p.G609fs NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 519_521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CACACACACAGGGGAGCGGCCCTTCCC 0.609 NaN NaN NaN NaN NaN NaN 15 786 --- --- SLMO2 51012 broad.mit.edu 37 20 57613514 57613526 + Splice_Site DEL CACTTACAGACTT CACTTACAGACTT - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr20:57613514_57613526delCACTTACAGACTT uc002yam.2 - 2 317 c.201_splice c.e2+1 p.S67_splice SLMO2_uc010zzv.1_Splice_Site_p.S67_splice NM_016045 NP_057129 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 skin(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) AATAAAGACACACTTACAGACTTCACAATGGAA 0.437 NaN NaN NaN NaN NaN NaN 20 200 --- --- AP1B1 162 broad.mit.edu 37 22 29745198 29745206 + Splice_Site DEL CTGGCTCAC CTGGCTCAC - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr22:29745198_29745206delCTGGCTCAC uc003afj.2 - 11 1621 c.1437_splice c.e11+1 p.Q479_splice AP1B1_uc003afi.2_Splice_Site_p.Q479_splice|AP1B1_uc003afk.2_Splice_Site_p.Q479_splice|AP1B1_uc003afl.2_Splice_Site_p.Q479_splice|AP1B1_uc011ako.1_Splice_Site_p.Q32_splice NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 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 GGCCAGCTCGCTGGCTCACCTGTGTGCTC 0.584 NaN NaN NaN NaN NaN NaN 12 107 --- --- MECOM 2122 broad.mit.edu 37 3 168833343 168833348 + In_Frame_Del DEL GGGGCT GGGGCT - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr3:168833343_168833348delGGGGCT uc003ffi.3 - 7 2017_2022 c.1748_1753delAGCCCC c.(1747-1755)CAGCCCCTG>CTG p.QP583del MECOM_uc010hwk.1_In_Frame_Del_p.QP606del|MECOM_uc003ffj.3_In_Frame_Del_p.QP648del|MECOM_uc011bpi.1_In_Frame_Del_p.QP584del|MECOM_uc003ffn.3_In_Frame_Del_p.QP583del|MECOM_uc003ffk.2_In_Frame_Del_p.QP583del|MECOM_uc003ffl.2_In_Frame_Del_p.QP743del|MECOM_uc011bpj.1_In_Frame_Del_p.QP771del|MECOM_uc011bpk.1_In_Frame_Del_p.QP573del|MECOM_uc010hwn.2_In_Frame_Del_p.QP771del NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 583_584 CTBP-binding motif 2 (By similarity). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CTTAGATCCAGGGGCTGGTCTTGGCT 0.534 NaN NaN NaN NaN NaN NaN 15 170 --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:131676327delT uc003kwq.2 + 9 1679 c.1514delT c.(1513-1515)CTTfs p.L505fs uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 505 Helical; Name=12; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 NaN NaN NaN NaN NaN NaN 8 267 --- --- PCDHGA7 56108 broad.mit.edu 37 5 140763792 140763792 + Frame_Shift_Del DEL G G - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr5:140763792delG uc003lka.1 + 1 1326 c.1326delG c.(1324-1326)GTGfs p.V442fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Frame_Shift_Del_p.V442fs NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 442 Cadherin 4.|Extracellular (Potential). 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) TCATGCAGGTGGCAGACACCA 0.507 NaN NaN NaN NaN NaN NaN 13 116 --- --- MDC1 9656 broad.mit.edu 37 6 30671304 30671305 + Frame_Shift_Ins INS - - T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:30671304_30671305insT uc003nrg.3 - 11 6012_6013 c.5572_5573insA c.(5572-5574)ACTfs p.T1858fs MDC1_uc003nrf.3_Frame_Shift_Ins_p.T489fs NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1858 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGGTTTTGGAGTCACGACATCC 0.505 NaN Other_conserved_DNA_damage_response_genes NaN NaN NaN NaN NaN 223 167 --- --- CDKN1A 1026 broad.mit.edu 37 6 36651884 36651885 + Frame_Shift_Ins INS - - G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr6:36651884_36651885insG uc003omm.3 + 2 128_129 c.6_7insG c.(4-9)TCAGAAfs p.S2fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.S36fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.S2fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.S2fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 2_3 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GCGCCATGTCAGAACCGGCTGG 0.629 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 18 18 --- --- GTF2I 2969 broad.mit.edu 37 7 74105441 74105469 + Splice_Site DEL ATTGTAAGCATTGTATTTTTATCTTTTGC ATTGTAAGCATTGTATTTTTATCTTTTGC - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC uc003uau.2 + 3 608 c.238_splice c.e3+1 p.C80_splice GTF2I_uc003uat.2_Splice_Site_p.C80_splice|GTF2I_uc003uav.2_Splice_Site_p.C80_splice|GTF2I_uc003uaw.2_Splice_Site_p.C80_splice|GTF2I_uc003uay.2_Splice_Site_p.C80_splice|GTF2I_uc003uax.2_Splice_Site_p.C80_splice NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TTTGTAAAATATTGTAAGCATTGTATTTTTATCTTTTGCATTTCATTAA 0.24 NaN NaN NaN NaN NaN NaN 8 98 --- --- PLXNA4 91584 broad.mit.edu 37 7 131825479 131825493 + In_Frame_Del DEL CAGAGAGGCAGGCGT CAGAGAGGCAGGCGT - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr7:131825479_131825493delCAGAGAGGCAGGCGT uc003vra.3 - 30 5532_5546 c.5303_5317delACGCCTGCCTCTCTG c.(5302-5319)GACGCCTGCCTCTCTGTG>GTG p.DACLS1768del PLXNA4_uc003vqz.3_In_Frame_Del_p.DACLS53del NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1768_1772 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TGAGCCACCACAGAGAGGCAGGCGTCTGTGATGCT 0.558 NaN NaN NaN NaN NaN NaN 15 195 --- --- FNTA 2339 broad.mit.edu 37 8 42911569 42911570 + Frame_Shift_Ins INS - - C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr8:42911569_42911570insC uc003xps.2 + 1 128_129 c.80_81insC c.(79-81)CACfs p.H27fs FNTA_uc003xpt.2_5'UTR|FNTA_uc003xpu.2_Frame_Shift_Ins_p.H27fs|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 27 Pro-rich. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 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) CCCCAGCCGCACCCACCGCCGC 0.748 NaN NaN NaN NaN NaN NaN 5 4 --- --- TSC1 7248 broad.mit.edu 37 9 135802666 135802666 + Frame_Shift_Del DEL G G - TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ecdb39bc-f59d-4b7e-8541-985acea634f9 109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2 g.chr9:135802666delG uc004cca.2 - 4 366 c.132delC c.(130-132)ACCfs p.T44fs TSC1_uc004ccb.3_Frame_Shift_Del_p.T44fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.T44fs|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Frame_Shift_Del_p.T44fs|TSC1_uc004ccd.2_Frame_Shift_Del_p.T44fs|TSC1_uc004cce.1_Frame_Shift_Del_p.T44fs NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 44 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AATCCACCAAGGTGTTTACAA 0.448 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis NaN NaN NaN NaN NaN 33 13 --- ---