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 SCNN1D 6339 broad.mit.edu 37 1 1222339 1222339 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:1222339G>C uc001adu.1 + 7 1235 c.611G>C c.(610-612)AGA>ACA p.R204T SCNN1D_uc001adt.1_Missense_Mutation_p.R368T|SCNN1D_uc001adw.2_Missense_Mutation_p.R270T|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R204T NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) AGCCGGGTCAGAGTGGGGTTC 0.701 NaN 0 0 0 0.175082 0 19 18 PLEKHM2 23207 broad.mit.edu 37 1 16053704 16053704 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:16053704G>A uc010obo.1 + 9 1364 c.1137G>A c.(1135-1137)CCG>CCA p.P379P NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 379 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGAGGGGCCGAGCAGCACCA 0.687 NaN 0 0 0 0.217242 0 6 12 ZC3H12A 80149 broad.mit.edu 37 1 37945897 37945897 + Silent SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37945897G>T uc001cbb.3 + 3 600 c.450G>T c.(448-450)GGG>GGT p.G150G ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 150 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGCCATGGGAACAAGGAGG 0.632 NaN 1 0 2.7689e-08 0.248553 3.11215e-08 6 41 ZC3H12A 80149 broad.mit.edu 37 1 37945923 37945923 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37945923G>A uc001cbb.3 + 3 626 c.476G>A c.(475-477)GGC>GAC p.G159D ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 159 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCTGCCGGGGCATCCTGCTG 0.637 NaN 0 0 0 0.047766 0 8 43 ZC3H12A 80149 broad.mit.edu 37 1 37946006 37946006 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:37946006C>T uc001cbb.3 + 3 709 c.559C>T c.(559-561)CCT>TCT p.P187S ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 187 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAAGGAGCAGCCTCGGCCCGA 0.627 NaN 0 0 0 0.115264 0 3 29 KDM4A 9682 broad.mit.edu 37 1 44137208 44137208 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137208G>C uc001cjx.2 + 11 1562 c.1396G>C c.(1396-1398)GAG>CAG p.E466Q KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 466 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 CAAATTTGAAGAGCTTAAAAA 0.428 NaN 0 0 0 0.038147 0 5 76 KDM4A 9682 broad.mit.edu 37 1 44137256 44137256 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137256G>C uc001cjx.2 + 11 1610 c.1444G>C c.(1444-1446)GCA>CCA p.A482P KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 482 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 GGAAGAACAAGCAGCAGCTGC 0.448 NaN 0 0 0 0.058154 0 7 95 KDM4A 9682 broad.mit.edu 37 1 44137463 44137463 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:44137463G>C uc001cjx.2 + 11 1817 c.1651G>C c.(1651-1653)GAT>CAT p.D551H KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 551 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TGCCAAAGGGGATGGCAGGGT 0.562 NaN 0 0 0 0.160694 0 15 114 RPS8 6202 broad.mit.edu 37 1 45242394 45242394 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:45242394G>A uc001cmi.2 + 3 182 c.159G>A c.(157-159)AAG>AAA p.K53K SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank NM_001012 NP_001003 P62241 RS8_HUMAN ribosomal protein S8 53 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GAGGTAACAAGAAATACCGTG 0.562 NaN 0 0 0 0.058154 0 10 39 STIL 6491 broad.mit.edu 37 1 47725990 47725990 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:47725990C>G uc001crc.1 - 16 3203 c.3048G>C c.(3046-3048)AAG>AAC p.K1016N TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.K970N|STIL_uc010omo.1_Missense_Mutation_p.K999N|STIL_uc001crd.1_Missense_Mutation_p.K1017N|STIL_uc001cre.1_Missense_Mutation_p.K1016N|STIL_uc001crf.1_Missense_Mutation_p.K629N|STIL_uc001crg.1_Missense_Mutation_p.K952N NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1016 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GTGCATTTTTCTTCACTTTAG 0.308 NaN 0 0 0 0.246493 0 41 10 PPFIA4 8497 broad.mit.edu 37 1 203024673 203024673 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:203024673C>A uc001gyz.2 + 3 1018 c.425C>A c.(424-426)TCC>TAC p.S142Y PPFIA4_uc009xaj.2_Missense_Mutation_p.S773Y|PPFIA4_uc010pqf.1_Missense_Mutation_p.S355Y|PPFIA4_uc001gza.2_Missense_Mutation_p.S142Y|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 142 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 AAGCGTGGTTCCATCCCCACC 0.652 NaN 1 0 0.000673444 0.069234 0.000704526 11 33 THNSL1 79896 broad.mit.edu 37 10 25314303 25314303 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:25314303G>C uc001isi.3 + 3 2480 c.2151G>C c.(2149-2151)AAG>AAC p.K717N ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 717 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AGCAAGAGAAGATGGAGTACC 0.388 NaN 0 0 0 0.058154 0 9 40 ZNF365 22891 broad.mit.edu 37 10 64415128 64415128 + Missense_Mutation SNP C C T rs79964532 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:64415128C>T uc001jmd.1 + 4 462 c.128C>T c.(127-129)TCA>TTA p.S43L ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 43 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TCCACAAAGTCAACACATCTA 0.408 NaN 0 0 0 0.038147 0 7 16 PSAP 5660 broad.mit.edu 37 10 73587834 73587834 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:73587834G>A uc001jsm.2 - 6 761 c.657C>T c.(655-657)GTC>GTT p.V219V NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 219 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 CCAAGGCCTGGACAAAGGTGG 0.552 NaN 0 0 0 0.184627 0 5 50 TLL2 7093 broad.mit.edu 37 10 98136543 98136543 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr10:98136543C>T uc001kml.1 - 18 2580 c.2354G>A c.(2353-2355)GGG>GAG p.G785E NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 785 CUB 4. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCCAGGGTCCCCTCCACACT 0.572 NaN 0 0 0 0.203993 0 35 15 OR51S1 119692 broad.mit.edu 37 11 4869946 4869946 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:4869946G>A uc010qyo.1 - 1 493 c.493C>T c.(493-495)CTG>TTG p.L165L NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 165 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCAGGGGCAGATGGAGACCC 0.557 NaN 0 0 0 0.09319 0 12 44 MMP26 56547 broad.mit.edu 37 11 5009489 5009489 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:5009489C>T uc001lzv.2 + 1 66 c.48C>T c.(46-48)TTC>TTT p.F16F NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 16 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTGGTGTTTCGCCGTTCCAG 0.502 NaN OREG0003716 type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.26419 0 21 31 ABCC8 6833 broad.mit.edu 37 11 17436131 17436131 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:17436131G>A uc001mnc.2 - 19 2444 c.2318C>T c.(2317-2319)TCG>TTG p.S773L NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 773 ABC transporter 1.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTTTCTGCGAAGCATAGGC 0.547 NaN 0 0 0 0.099896 0 26 37 DTX4 23220 broad.mit.edu 37 11 58962721 58962721 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:58962721G>C uc001nns.2 + 7 1672 c.1415G>C c.(1414-1416)GGG>GCG p.G472A DTX4_uc001nnr.2_Missense_Mutation_p.G366A NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 472 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) ACCATTTATGGGGTGAAGACA 0.532 NaN 0 0 0 0.105934 0 13 35 ANKRD13D 338692 broad.mit.edu 37 11 67068497 67068497 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:67068497G>A uc001okc.1 + 12 1360 c.849G>A c.(847-849)CCG>CCA p.P283P ANKRD13D_uc001okd.1_Silent_p.P370P|ANKRD13D_uc001oke.1_Silent_p.P283P|ANKRD13D_uc001okg.1_Silent_p.P66P|ANKRD13D_uc001okh.1_Silent_p.P66P|ANKRD13D_uc001oki.1_Silent_p.P20P|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 283 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AAGAGCACCCGCTCTCCCTGG 0.612 NaN 0 0 0 0.11911 0 15 46 FAT3 120114 broad.mit.edu 37 11 92088561 92088561 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:92088561G>A uc001pdj.3 + 1 3300 c.3283G>A c.(3283-3285)GAC>AAC p.D1095N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1095 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGTATAGACGACGAGAGTGG 0.453 NaN TCGA Ovarian(4;0.039) 0 0 0 0.184627 0 5 24 FOLR4 390243 broad.mit.edu 37 11 94039818 94039818 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:94039818C>T uc010rud.1 + 2 278 c.278C>T c.(277-279)GCT>GTT p.A93V NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 93 extracellular region folic acid binding|receptor activity ovary(1) 1 TTCATCCAGGCTATCTGCTTC 0.567 NaN 0 0 0 0.160694 0 18 43 GRIA4 2893 broad.mit.edu 37 11 105795422 105795422 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:105795422G>T uc001pix.2 + 12 2220 c.1774G>T c.(1774-1776)GAG>TAG p.E592* GRIA4_uc001piw.2_Nonsense_Mutation_p.E592* NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 592 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GCCTCCCAATGAGTTTGGCAT 0.468 NaN 1 0 1.12685e-05 0.047766 1.19728e-05 9 15 ZC3H12C 85463 broad.mit.edu 37 11 110035202 110035202 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr11:110035202G>A uc009yxw.2 + 6 1443 c.1392G>A c.(1390-1392)CTG>CTA p.L464L ZC3H12C_uc010rwc.1_Silent_p.L465L|ZC3H12C_uc010rwd.1_Silent_p.L465L|ZC3H12C_uc001pkr.3_Silent_p.L433L NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 464 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AAGGAGGACTGGTGAAAAGCA 0.512 NaN 0 0 0 0.115264 0 3 23 KCNA6 3742 broad.mit.edu 37 12 4920041 4920041 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:4920041C>T uc001qng.2 + 1 1700 c.834C>T c.(832-834)CTC>CTT p.L278L NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 278 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CTTTTGAGCTCCTGGTGCGCT 0.557 NaN HNSCC(72;0.22) 0 0 0 0.0918 0 25 71 MLL2 8085 broad.mit.edu 37 12 49434618 49434618 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:49434618G>A uc001rta.3 - 31 6935 c.6935C>T c.(6934-6936)TCA>TTA p.S2312L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2312 Pro-rich. 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 GTGGGTGCCTGAGGAGGGTGA 0.617 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.038147 0 8 22 CPSF6 11052 broad.mit.edu 37 12 69652453 69652453 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:69652453C>T uc001sut.3 + 6 888 c.778C>T c.(778-780)CCT>TCT p.P260S CPSF6_uc001suu.3_Missense_Mutation_p.P297S|CPSF6_uc010stk.1_5'UTR NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 260 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) TCAGGTTCTGCCTCCTCCTCT 0.577 NaN 0 0 0 0.099896 0 27 842 UBE2N 7334 broad.mit.edu 37 12 93803827 93803827 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:93803827C>T uc001tcp.2 - 4 813 c.447G>A c.(445-447)ATG>ATA p.M149I NM_003348 NP_003339 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 149 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity 0 AAATATTATTCATGGCATATA 0.348 NaN Direct_reversal_of_damage|Rad6_pathway 0 0 0 0.038147 0 8 14 FBXO21 23014 broad.mit.edu 37 12 117628253 117628253 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:117628253C>T uc001twk.2 - 1 48 c.9G>A c.(7-9)GCG>GCA p.A3A FBXO21_uc001twj.2_Silent_p.A3A|FBXO21_uc009zwq.2_Silent_p.A3A NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 3 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) cgactgctgccgccgccATCT 0.478 NaN 0 0 0 0.115264 0 2 2 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 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) ATTTTCTTTTCCTGCAGAGAC 0.493 NaN 0 0 0 0.249174 0 10 68 SPATA13 221178 broad.mit.edu 37 13 24868942 24868942 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:24868942G>A uc001upg.1 + 9 1678 c.1271G>A c.(1270-1272)CGC>CAC p.R424H SPATA13_uc001upd.1_Missense_Mutation_p.R1049H|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.R370H|SPATA13_uc010tcz.1_Missense_Mutation_p.R308H|SPATA13_uc010tda.1_Missense_Mutation_p.R368H|SPATA13_uc001uph.2_Missense_Mutation_p.R346H|SPATA13_uc010tdb.1_Missense_Mutation_p.R284H|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 424 DH. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) ATCAACGAGCGCAAGCGCAAG 0.498 NaN 0 0 0 0.150653 0 4 35 RBM26 64062 broad.mit.edu 37 13 79928636 79928636 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:79928636G>C uc001vkz.2 - 13 1944 c.1930C>G c.(1930-1932)CCA>GCA p.P644A RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 642 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GAAGGTACTGGACCCAGCCGC 0.463 NaN 0 0 0 0.173368 0 36 9 DCUN1D2 55208 broad.mit.edu 37 13 114138370 114138370 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:114138370T>C uc001vtr.1 - 2 44 c.5A>G c.(4-6)CAT>CGT p.H2R DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron NM_001014283 NP_001014305 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain 2 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) TTTAAGCTTATGCTTTGGGAT 0.493 NaN 0 0 0 0.139131 0 57 13 FBN1 2200 broad.mit.edu 37 15 48905226 48905226 + Silent SNP G G T rs141651917 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:48905226G>T uc001zwx.1 - 3 556 c.228C>A c.(226-228)GGC>GGA p.G76G NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 76 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACTGATTTCCGCCAGGTAAGG 0.393 NaN 1 0 0.00316338 0.132662 0.00321059 14 54 ATP8B4 79895 broad.mit.edu 37 15 50158634 50158634 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:50158634G>A uc001zxu.2 - 26 3217 c.3075C>T c.(3073-3075)ATC>ATT p.I1025I ATP8B4_uc010ber.2_Silent_p.I898I|ATP8B4_uc010ufd.1_Silent_p.I835I|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.I28I NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1025 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCTCCCCCAGATGAAGACGT 0.388 NaN 0 0 0 0.204396 0 19 44 ATP8B4 79895 broad.mit.edu 37 15 50189507 50189507 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:50189507G>A uc001zxu.2 - 23 2821 c.2679C>T c.(2677-2679)TTC>TTT p.F893F ATP8B4_uc010ber.2_Silent_p.F766F|ATP8B4_uc010ufd.1_Silent_p.F703F|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Silent_p.F191F NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 893 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGAAACCACAGAAGAAACCAA 0.299 NaN 0 0 0 0.083992 0 26 81 KIAA1370 56204 broad.mit.edu 37 15 52903959 52903959 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:52903959G>A uc002acg.3 - 4 370 c.217C>T c.(217-219)CGA>TGA p.R73* KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Translation_Start_Site|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.R80* NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 73 0 all cancers(107;0.0803) GACCTAGTTCGTCTGGCTTGG 0.398 NaN 0 0 0 0.11911 0 13 43 ZNF280D 54816 broad.mit.edu 37 15 56961028 56961028 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:56961028C>G uc002adu.2 - 14 1755 c.1538G>C c.(1537-1539)GGA>GCA p.G513A ZNF280D_uc002adv.2_Missense_Mutation_p.G500A|ZNF280D_uc010bfq.2_Missense_Mutation_p.G513A|ZNF280D_uc002adw.1_Missense_Mutation_p.G541A|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CACTTTTGTTCCAGGAGGCAA 0.318 NaN 0 0 0 0.038147 0 7 26 SCAPER 49855 broad.mit.edu 37 15 76994184 76994184 + Missense_Mutation SNP A A T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:76994184A>T uc002bby.2 - 19 2482 c.2423T>A c.(2422-2424)TTT>TAT p.F808Y SCAPER_uc010bkr.2_Missense_Mutation_p.F116Y|SCAPER_uc002bbx.2_Missense_Mutation_p.F562Y|SCAPER_uc002bbz.1_Missense_Mutation_p.F679Y|SCAPER_uc002bca.1_Missense_Mutation_p.F673Y NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 807 C2H2-type. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AACATGGCTAAAAAGATATAC 0.358 NaN 0 0 0 0.11911 0 13 19 HOMER2 9455 broad.mit.edu 37 15 83532988 83532988 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:83532988C>A uc002bjg.2 - 4 504 c.318G>T c.(316-318)GTG>GTT p.V106V HOMER2_uc002bjh.2_Silent_p.V106V|HOMER2_uc002bjj.2_Silent_p.V106V|HOMER2_uc002bji.2_Silent_p.V106V NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 106 Potential.|WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 CAGCTTCTTTCACCTCCTGGA 0.388 NaN 1 0 2.0095e-06 0.248553 2.20397e-06 6 23 BNC1 646 broad.mit.edu 37 15 83933066 83933066 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr15:83933066T>C uc002bjt.1 - 4 1025 c.937A>G c.(937-939)AAA>GAA p.K313E BNC1_uc010uos.1_Missense_Mutation_p.K301E NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 313 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCTTCTTTTTTAGTAATAGCA 0.438 NaN 0 0 0 0.09319 0 12 47 POLR3E 55718 broad.mit.edu 37 16 22320249 22320249 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:22320249G>A uc002dkk.2 + 5 325 c.169G>A c.(169-171)GAG>AAG p.E57K POLR3E_uc002dkj.1_Missense_Mutation_p.E57K|POLR3E_uc002dkm.2_Missense_Mutation_p.E21K|POLR3E_uc010vbr.1_Missense_Mutation_p.E57K|POLR3E_uc002dkl.2_Missense_Mutation_p.E57K|POLR3E_uc010vbs.1_Missense_Mutation_p.E21K|POLR3E_uc010vbt.1_Intron NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 57 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) CCTCCAGGTAGAGCTTGAGAT 0.627 NaN 0 0 0 0.09319 0 13 33 IRX5 10265 broad.mit.edu 37 16 54966775 54966775 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:54966775G>A uc002ehv.2 + 2 615 c.615G>A c.(613-615)CAG>CAA p.Q205Q IRX5_uc010cca.1_Silent_p.Q257Q|IRX5_uc002ehw.2_Silent_p.Q139Q NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 205 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 ACGAGCCCCAGAAGCCCGAGG 0.592 NaN 0 0 0 0.11911 0 14 41 ZZEF1 23140 broad.mit.edu 37 17 3974013 3974013 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:3974013C>T uc002fxe.2 - 26 4104 c.4040G>A c.(4039-4041)CGC>CAC p.R1347H ZZEF1_uc002fxj.1_5'UTR NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1347 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATCTGGAGTGCGATACACCAG 0.393 NaN 0 0 0 0.160694 0 18 42 CNTROB 116840 broad.mit.edu 37 17 7838454 7838454 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:7838454C>A uc002gjq.2 + 5 1504 c.585C>A c.(583-585)ACC>ACA p.T195T CNTROB_uc002gjp.2_Silent_p.T195T|CNTROB_uc002gjr.2_Silent_p.T97T|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 195 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) CAGAGCATACCCGCCGCAAGG 0.502 NaN 1 0 0.004672 0.115264 0.00470661 3 19 ITGA3 3675 broad.mit.edu 37 17 48149456 48149456 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:48149456C>T uc010dbl.2 + 7 1530 c.1066C>T c.(1066-1068)CAC>TAC p.H356Y ITGA3_uc010dbm.2_Missense_Mutation_p.H356Y NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 356 FG-GAP 6.|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 CTTCCCTGCTCACCCCTCACT 0.562 NaN 0 0 0 0.189662 0 19 43 WFIKKN2 124857 broad.mit.edu 37 17 48917902 48917902 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:48917902G>A uc002isv.3 + 2 1947 c.1253G>A c.(1252-1254)GGC>GAC p.G418D WFIKKN2_uc010dbu.2_Missense_Mutation_p.G325D NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 418 BPTI/Kunitz inhibitor 2. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTCTATGGTGGCTGCGAGGGC 0.667 NaN 0 0 0 0.175082 0 18 35 CA10 56934 broad.mit.edu 37 17 49710985 49710985 + Missense_Mutation SNP C C A rs149523462 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:49710985C>A uc002itw.3 - 8 1802 c.816G>T c.(814-816)CAG>CAT p.Q272H CA10_uc002itu.3_Missense_Mutation_p.Q201H|CA10_uc002itv.3_Missense_Mutation_p.Q278H|CA10_uc002itx.3_Missense_Mutation_p.Q272H|CA10_uc002ity.3_Missense_Mutation_p.Q272H|CA10_uc002itz.2_Missense_Mutation_p.Q272H NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 272 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ATGGCTGGTTCTGGCTGAGCA 0.498 NaN 1 0 2.23348e-06 0.146539 2.43003e-06 15 46 TRIP10 9322 broad.mit.edu 37 19 6750343 6750343 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:6750343G>T uc002mfs.2 + 13 1502 c.1436G>T c.(1435-1437)CGG>CTG p.R479L TRIP10_uc010dux.1_Missense_Mutation_p.R423L|TRIP10_uc002mfr.2_Missense_Mutation_p.R423L|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R242L NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 479 Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM.|Required for interaction with FASLG and localization to lysosomes. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 CTTAGCAACCGGGGAGACAGC 0.667 NaN 1 0 0.00185496 0.105934 0.00192576 13 47 APLP1 333 broad.mit.edu 37 19 36369487 36369487 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:36369487G>A uc002oce.2 + 14 1716 c.1578G>A c.(1576-1578)GGG>GGA p.G526G APLP1_uc010xsz.1_Silent_p.G487G|APLP1_uc002ocf.2_Silent_p.G527G|APLP1_uc002ocg.2_Silent_p.G430G|APLP1_uc010xta.1_Silent_p.G520G NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 526 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGGGGTAGGGTCCACAGAAC 0.308 NaN 0 0 0 0.047766 0 8 28 ACTN4 81 broad.mit.edu 37 19 39191751 39191751 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:39191751C>T uc002oja.1 + 3 446 c.387C>T c.(385-387)ATC>ATT p.I129I ACTN4_uc010egc.1_Silent_p.I129I NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 129 Actin-binding.|CH 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGTCTCCATCGGGGCAGAAG 0.532 NaN 0 0 0 0.160694 0 16 30 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NaN 0 0 0 0.146539 0 7 29 NKPD1 284353 broad.mit.edu 37 19 45656276 45656276 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:45656276G>C uc010xxi.1 - 4 1419 c.1419C>G c.(1417-1419)CTC>CTG p.L473L NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TGATGGCGTTGAGCACGCCCA 0.672 NaN 0 0 0 0.115264 0 3 7 NKPD1 284353 broad.mit.edu 37 19 45656867 45656867 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:45656867G>T uc010xxi.1 - 4 828 c.828C>A c.(826-828)TTC>TTA p.F276L NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GGATGAAAAGGAACTGCACGT 0.662 NaN 1 0 0.00024832 0.150653 0.000261795 3 7 SAE1 10055 broad.mit.edu 37 19 47646815 47646815 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:47646815C>T uc002pgc.2 + 2 219 c.163C>T c.(163-165)CTC>TTC p.L55F SAE1_uc002pgd.2_Missense_Mutation_p.L55F|SAE1_uc010ekx.2_Missense_Mutation_p.L55F|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR NM_016402 NP_057486 Q9UBE0 SAE1_HUMAN SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA; 55 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity ovary(1) 1 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TGCCAAGAATCTCATCTTGGC 0.522 NaN 0 0 0 0.189662 0 17 80 CLEC11A 6320 broad.mit.edu 37 19 51228559 51228559 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:51228559C>T uc002psy.2 + 4 985 c.807C>T c.(805-807)CGC>CGT p.R269R NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 269 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCTCACCCCGCCCCGAGCTCG 0.726 NaN 0 0 0 0.069234 0 9 7 ZNF615 284370 broad.mit.edu 37 19 52498046 52498046 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:52498046G>A uc002pye.1 - 6 575 c.283C>T c.(283-285)CAA>TAA p.Q95* ZNF615_uc002pyf.1_Nonsense_Mutation_p.Q106*|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Nonsense_Mutation_p.Q106*|ZNF615_uc010epi.1_Nonsense_Mutation_p.Q102*|ZNF615_uc010ydg.1_Nonsense_Mutation_p.Q100* NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGAATACTTTGATTTTGCAAG 0.348 NaN 0 0 0 0.249174 0 20 20 VSTM1 284415 broad.mit.edu 37 19 54544246 54544246 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:54544246C>A uc002qcw.3 - 9 856 c.680G>T c.(679-681)GGA>GTA p.G227V VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.G196V NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 227 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TTCATGAGATCCTGGGGGCTC 0.557 NaN 1 0 1.5739e-10 0.146539 1.79874e-10 15 14 FIZ1 84922 broad.mit.edu 37 19 56104596 56104596 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr19:56104596G>A uc002qli.3 - 3 801 c.711C>T c.(709-711)TTC>TTT p.F237F FIZ1_uc002qlj.3_Silent_p.F237F NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 237 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGGGCGCGTTGAAGTCGCGCT 0.587 NaN 0 0 0 0.150653 0 3 4 TRMT61B 55006 broad.mit.edu 37 2 29073986 29073986 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:29073986G>C uc002rmm.2 - 5 1296 c.1264C>G c.(1264-1266)CAA>GAA p.Q422E TRMT61B_uc002rmn.2_Missense_Mutation_p.Q422E|TRMT61B_uc010ezk.2_Intron NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 422 tRNA (adenine-N1-)-methyltransferase activity 0 ATTTTCTCTTGAGAATCTAGT 0.363 NaN 0 0 0 0.108266 0 26 6 PLEKHH2 130271 broad.mit.edu 37 2 43927132 43927132 + Silent SNP A A G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr2:43927132A>G uc010yny.1 + 8 1118 c.1035A>G c.(1033-1035)AGA>AGG p.R345R PLEKHH2_uc002rte.3_Silent_p.R345R|PLEKHH2_uc002rtf.3_Silent_p.R344R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 345 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCATAAAGAGACCAGAACACA 0.428 NaN 0 0 0 0.105934 0 13 47 ASXL1 171023 broad.mit.edu 37 20 31024350 31024350 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:31024350G>A uc002wxs.2 + 12 4261 c.3835G>A c.(3835-3837)GTG>ATG p.V1279M ASXL1_uc010geb.2_Missense_Mutation_p.V1170M NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1279 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 ATCTCCAAATGTGATCTCCTT 0.512 NaN F|N|Mis MDS|CMML 0 0 0 0.173368 0 36 26 PHF20 51230 broad.mit.edu 37 20 34389477 34389477 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:34389477C>T uc002xek.1 + 2 144 c.33C>T c.(31-33)ATC>ATT p.I11I PHF20_uc002xei.1_Silent_p.I11I|PHF20_uc010gfo.1_Silent_p.I11I|PHF20_uc002xej.1_5'UTR|PHF20_uc002xeh.2_RNA NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) GACGAGGAATCAGCTTTGAAG 0.398 NaN 0 0 0 0.11911 0 12 36 PCK1 5105 broad.mit.edu 37 20 56137883 56137883 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr20:56137883G>A uc002xyn.3 + 4 701 c.538G>A c.(538-540)GTC>ATC p.V180I PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 180 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGGCACGCCCGTCCTGGAAGC 0.562 NaN 0 0 0 0.248553 0 5 37 MRAP 56246 broad.mit.edu 37 21 33671325 33671325 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:33671325G>A uc002ypj.2 + 3 230 c.43G>A c.(43-45)GAA>AAA p.E15K MRAP_uc002ypk.2_Missense_Mutation_p.E15K|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.E15K NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 15 Cytoplasmic (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 CTACAGCTATGAATACTACCT 0.597 NaN 0 0 0 0.038147 0 7 28 DSCAM 1826 broad.mit.edu 37 21 41452089 41452089 + Silent SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:41452089G>T uc002yyq.1 - 25 4862 c.4410C>A c.(4408-4410)ACC>ACA p.T1470T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1470 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTTTCCTAAGGTCTTTGCTT 0.428 NaN 1 0 0.00307968 0.038147 0.00314915 8 92 COL18A1 80781 broad.mit.edu 37 21 46875522 46875522 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:46875522G>C uc011afs.1 + 1 99 c.78G>C c.(76-78)CTG>CTC p.L26L COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L26L NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 26 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCAACCTGCTGAACCTGAACT 0.642 NaN 0 0 0 0.219247 0 20 92 PCNT 5116 broad.mit.edu 37 21 47847643 47847643 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr21:47847643C>T uc002zji.3 + 34 7535 c.7428C>T c.(7426-7428)CTC>CTT p.L2476L PCNT_uc002zjj.2_Silent_p.L2358L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2476 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGCCCCGACTCAGTGGCTCAG 0.602 NaN 0 0 0 0.11911 0 14 71 RBM9 23543 broad.mit.edu 37 22 36141976 36141976 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:36141976G>A uc003aon.3 - 13 1417 c.1305C>T c.(1303-1305)GGC>GGT p.G435G RBM9_uc003aog.3_Silent_p.G341G|RBM9_uc003aol.3_Silent_p.G360G|RBM9_uc003aoj.3_Silent_p.G364G|RBM9_uc003aok.3_Missense_Mutation_p.A348V|RBM9_uc003aoh.3_Missense_Mutation_p.A351V|RBM9_uc003aom.3_Silent_p.G342G|RBM9_uc010gwu.2_Missense_Mutation_p.A351V|RBM9_uc003aoo.3_Silent_p.G434G NM_001082578 NP_001076047 O43251 RFOX2_HUMAN RNA binding motif protein 9 isoform 5 374 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding 0 TTACCACAGCGCCAACTCCAT 0.443 NaN 0 0 0 0.219247 0 17 269 CELSR1 9620 broad.mit.edu 37 22 46765614 46765614 + Missense_Mutation SNP G G A rs62226999 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:46765614G>A uc003bhw.1 - 26 7847 c.7847C>T c.(7846-7848)GCG>GTG p.A2616V CELSR1_uc011arc.1_Silent_p.C1081C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2616 Helical; Name=5; (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GATGGGCCCCGCAAAGCTCCA 0.622 NaN 0 0 0 0.217242 0 6 27 ATP2B2 491 broad.mit.edu 37 3 10417249 10417249 + Silent SNP C C T rs113465029 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:10417249C>T uc003bvt.2 - 11 1720 c.1281G>A c.(1279-1281)CCG>CCA p.P427P ATP2B2_uc003bvv.2_Silent_p.P382P|ATP2B2_uc003bvw.2_Silent_p.P382P|ATP2B2_uc010hdo.2_Silent_p.P132P NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 427 Extracellular (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CAGGCAGCCACGGCTTCTTGT 0.577 NaN 0 0 0 0.132662 0 16 43 CNTN3 5067 broad.mit.edu 37 3 74350837 74350837 + Missense_Mutation SNP G G C rs144093273 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:74350837G>C uc003dpm.1 - 14 1986 c.1906C>G c.(1906-1908)CGG>GGG p.R636G NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 636 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAAGGTGTCCGAGCCTGGATA 0.433 NaN 0 0 0 0.080935 0 11 32 GPR156 165829 broad.mit.edu 37 3 119886517 119886517 + Missense_Mutation SNP G G A rs143524747 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr3:119886517G>A uc011bjf.1 - 9 1807 c.1807C>T c.(1807-1809)CGG>TGG p.R603W GPR156_uc011bjg.1_Missense_Mutation_p.R599W NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 603 Poly-Arg.|Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TGAGCTGCCCGCCTTCTCCTC 0.592 NaN 0 0 0 0.132662 0 16 43 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 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 0.09319 0 8 17 UGT2A3 79799 broad.mit.edu 37 4 69811101 69811101 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:69811101C>G uc003hef.2 - 2 818 c.787G>C c.(787-789)GAA>CAA p.E263Q UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 263 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TGAGGAAATTCAAAATCCCAA 0.373 NaN 0 0 0 0.069234 0 11 37 ANK2 287 broad.mit.edu 37 4 114280167 114280167 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:114280167G>T uc003ibe.3 + 38 10493 c.10393G>T c.(10393-10395)GAG>TAG p.E3465* ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Nonsense_Mutation_p.E767*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E3480* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3432 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGAAAGTAAGGAGCATTTCTT 0.458 NaN 1 0 9.31168e-06 0.105934 9.97156e-06 14 37 FBXW7 55294 broad.mit.edu 37 4 153244232 153244232 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr4:153244232T>C uc003ims.2 - 12 2074 c.1925A>G c.(1924-1926)GAT>GGT p.D642G FBXW7_uc011cii.1_Missense_Mutation_p.D642G|FBXW7_uc003imt.2_Missense_Mutation_p.D642G|FBXW7_uc011cih.1_Missense_Mutation_p.D466G|FBXW7_uc003imq.2_Missense_Mutation_p.D562G|FBXW7_uc003imr.2_Missense_Mutation_p.D524G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 642 WD 7. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTTCCATCATCTGAGCTGGT 0.428 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.146539 0 16 59 DDX4 54514 broad.mit.edu 37 5 55063741 55063741 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:55063741C>T uc003jqg.3 + 7 441 c.367C>T c.(367-369)CGG>TGG p.R123W DDX4_uc010ivz.2_Intron|DDX4_uc003jqh.3_Missense_Mutation_p.R123W|DDX4_uc003jqj.2_Missense_Mutation_p.R24W NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 123 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TAATCCAACACGGAACAGAGG 0.333 NaN 0 0 0 0.11911 0 11 31 GPR98 84059 broad.mit.edu 37 5 89923175 89923175 + Nonsense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:89923175G>T uc003kju.2 + 7 916 c.820G>T c.(820-822)GAG>TAG p.E274* GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 274 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGGTTCCTGAGGAAGACCA 0.383 NaN 1 0 1.3612e-06 0.132662 1.50507e-06 13 67 GPR98 84059 broad.mit.edu 37 5 89923397 89923397 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:89923397G>A uc003kju.2 + 7 1138 c.1042G>A c.(1042-1044)GAT>AAT p.D348N GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 348 Calx-beta 3.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAAATAGTTGATGACACCAT 0.378 NaN 0 0 0 0.163468 0 32 97 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:94030836C>A uc003kkr.3 + 21 3076 c.2996C>A c.(2995-2997)ACC>AAC p.T999N ANKRD32_uc003kks.2_Missense_Mutation_p.T363N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348 NaN 1 0 0.00307968 0.038147 0.00314915 5 57 PCDHA5 56143 broad.mit.edu 37 5 140202795 140202795 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:140202795C>T uc003lhl.2 + 1 1435 c.1435C>T c.(1435-1437)CGG>TGG p.R479W 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_Missense_Mutation_p.R479W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R479W NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 479 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCTGCACGGGACGCGGA 0.662 NaN 0 0 0 0.125774 0 28 37 PCDHA9 9752 broad.mit.edu 37 5 140230125 140230125 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:140230125C>T uc003lhu.2 + 1 2769 c.2045C>T c.(2044-2046)GCG>GTG p.A682V 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_uc003lht.1_Missense_Mutation_p.A682V NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 682 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTCGCGGGCGTCAGTGGGT 0.657 NaN 0 0 0 0.175082 0 19 27 SQSTM1 8878 broad.mit.edu 37 5 179263552 179263552 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr5:179263552C>T uc003mkw.3 + 8 1377 c.1282C>T c.(1282-1284)CTG>TTG p.L428L SQSTM1_uc011dgr.1_Silent_p.L344L|SQSTM1_uc011dgs.1_Silent_p.L344L|SQSTM1_uc003mkv.3_Silent_p.L344L|SQSTM1_uc003mkx.2_Silent_p.L344L NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 428 Interaction with NTRK1 (By similarity).|UBA. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGAGCGGCTCTGGACACCAT 0.552 NaN Paget_Disease_of_Bone 0 0 0 0.108266 0 24 60 SLC17A3 10786 broad.mit.edu 37 6 25861865 25861865 + Missense_Mutation SNP G G T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:25861865G>T uc003nfi.3 - 4 488 c.378C>A c.(376-378)AGC>AGA p.S126R SLC17A3_uc003nfk.3_Missense_Mutation_p.S204R|SLC17A3_uc011djz.1_Missense_Mutation_p.S204R|SLC17A3_uc011dka.1_Missense_Mutation_p.S126R NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 126 Helical; (Potential). 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 ATAAAGCAATGCTGCAGAGTC 0.418 NaN 1 0 1.66031e-10 0.0918 1.88168e-10 24 56 KHDRBS2 202559 broad.mit.edu 37 6 62757854 62757854 + Nonsense_Mutation SNP T T A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:62757854T>A uc003peg.2 - 3 512 c.265A>T c.(265-267)AAG>TAG p.K89* NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 89 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TGTAGCCTCTTCAAGGAGTTT 0.353 NaN 0 0 0 0.204396 0 21 39 B3GAT2 135152 broad.mit.edu 37 6 71665845 71665845 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:71665845C>T uc003pfv.2 - 1 944 c.288G>A c.(286-288)GCG>GCA p.A96A B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.A96A NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 96 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGGTCAGCTCCGCTTTCTGCA 0.697 NaN 0 0 0 0.058154 0 7 16 TMEM200A 114801 broad.mit.edu 37 6 130762085 130762085 + Missense_Mutation SNP T T C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:130762085T>C uc003qca.2 + 3 1389 c.518T>C c.(517-519)CTA>CCA p.L173P TMEM200A_uc010kfh.2_Missense_Mutation_p.L173P|TMEM200A_uc010kfi.2_Missense_Mutation_p.L173P|TMEM200A_uc003qcb.2_Missense_Mutation_p.L173P NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 173 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATTCACACGCTAAGAATCAAG 0.423 NaN 0 0 0 0.09319 0 10 29 C7orf26 79034 broad.mit.edu 37 7 6634164 6634164 + Silent SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:6634164C>T uc003sqo.1 + 3 513 c.513C>T c.(511-513)TTC>TTT p.F171F C7orf26_uc003sqp.1_Silent_p.F152F|C7orf26_uc003sqq.1_Intron NM_024067 NP_076972 Q96N11 CG026_HUMAN hypothetical protein LOC79034 171 ovary(1) 1 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) AGCAGATATTCAGTGCCAGCC 0.502 NaN 0 0 0 0.058154 0 9 121 SP4 6671 broad.mit.edu 37 7 21469484 21469484 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:21469484G>C uc003sva.2 + 3 882 c.701G>C c.(700-702)AGA>ACA p.R234T SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 234 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GTCCAAATTAGACCTGGTGTT 0.443 NaN 0 0 0 0.132662 0 16 116 ZNF92 168374 broad.mit.edu 37 7 64864186 64864186 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:64864186C>T uc003ttz.2 + 4 1302 c.1159C>T c.(1159-1161)CAT>TAT p.H387Y ZNF92_uc003tua.2_Missense_Mutation_p.H318Y|ZNF92_uc010kzu.2_Missense_Mutation_p.H355Y|ZNF92_uc003tub.2_Missense_Mutation_p.H311Y NM_152626 NP_689839 Q03936 ZNF92_HUMAN zinc finger protein 92 isoform 2 387 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(55;0.159) CCTTACTAAACATAAAAGAAT 0.358 NaN 0 0 0 0.175082 0 19 22 SEMA3A 10371 broad.mit.edu 37 7 83591109 83591109 + Missense_Mutation SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:83591109G>C uc003uhz.2 - 17 2209 c.1894C>G c.(1894-1896)CAA>GAA p.Q632E NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 632 Ig-like C2-type. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 AGAAGGCCTTGATCTGTCCTG 0.398 NaN 0 0 0 0.146539 0 17 21 COL1A2 1278 broad.mit.edu 37 7 94043017 94043017 + Missense_Mutation SNP G G A rs147074348 TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:94043017G>A uc003ung.1 + 27 2044 c.1573G>A c.(1573-1575)GAT>AAT p.D525N COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 525 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCAGGTCCTGATGGAAACAA 0.453 NaN HNSCC(75;0.22) 0 0 0 0.175082 0 16 25 PSMC2 5701 broad.mit.edu 37 7 103007921 103007921 + Silent SNP G G C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103007921G>C uc003vbs.2 + 10 976 c.906G>C c.(904-906)CTG>CTC p.L302L SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.L165L NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 302 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TGTTGGAACTGATCAATCAGC 0.453 NaN 0 0 0 0.132662 0 14 55 PSMC2 5701 broad.mit.edu 37 7 103007988 103007988 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103007988G>A uc003vbs.2 + 10 1043 c.973G>A c.(973-975)GAT>AAT p.D325N SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.D188N NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 325 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TAACAGACCTGATACTTTGGA 0.403 NaN 0 0 0 0.080935 0 11 48 PSMC2 5701 broad.mit.edu 37 7 103008039 103008039 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008039G>A uc003vbs.2 + 10 1094 c.1024G>A c.(1024-1026)GAA>AAA p.E342K SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.E205K NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 342 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TAGAAAAATTGAATTTAGCTT 0.358 NaN 0 0 0 0.09319 0 13 44 PSMC2 5701 broad.mit.edu 37 7 103008218 103008218 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008218G>A uc003vbs.2 + 11 1176 c.1106G>A c.(1105-1107)AGA>AAA p.R369K SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R232K NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 AGAGATATCAGATTTGAACTG 0.363 NaN 0 0 0 0.189662 0 19 57 PSMC2 5701 broad.mit.edu 37 7 103008346 103008346 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008346G>A uc003vbs.2 + 12 1217 c.1147G>A c.(1147-1149)GCT>ACT p.A383T SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A246T NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 383 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TTTGAAAGGTGCTGAGATTAG 0.413 NaN 0 0 0 0.146539 0 17 65 PSMC2 5701 broad.mit.edu 37 7 103008392 103008392 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008392G>A uc003vbs.2 + 12 1263 c.1193G>A c.(1192-1194)AGA>AAA p.R398K SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.R261K NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 398 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TTTGCCATCAGAGCACGGCGA 0.423 NaN 0 0 0 0.146539 0 16 77 PSMC2 5701 broad.mit.edu 37 7 103008417 103008417 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:103008417G>A uc003vbs.2 + 12 1288 c.1218G>A c.(1216-1218)GAG>GAA p.E406E SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.E269E NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 406 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TTGCTACCGAGAAGGATTTCT 0.423 NaN 0 0 0 0.146539 0 17 66 CTHRC1 115908 broad.mit.edu 37 8 104388121 104388121 + Nonsense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr8:104388121G>A uc003ylk.2 + 2 405 c.306G>A c.(304-306)TGG>TGA p.W102* CTHRC1_uc011lhq.1_Nonsense_Mutation_p.W102* NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 102 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) AGGAGTCCTGGACACCCAACT 0.453 NaN 0 0 0 0.058154 0 10 64 ZFP37 7539 broad.mit.edu 37 9 115806366 115806366 + Missense_Mutation SNP C C G TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:115806366C>G uc004bgm.1 - 4 560 c.532G>C c.(532-534)GAG>CAG p.E178Q ZFP37_uc011lwz.1_Missense_Mutation_p.E193Q|ZFP37_uc011lxa.1_Missense_Mutation_p.E179Q NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCACATGACTCAAATTTAAGA 0.333 NaN 0 0 0 0.047766 0 9 38 PAPPA 5069 broad.mit.edu 37 9 118982346 118982346 + Silent SNP C C A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:118982346C>A uc004bjn.2 + 5 2430 c.2049C>A c.(2047-2049)GGC>GGA p.G683G PAPPA_uc011lxp.1_Silent_p.G378G|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 683 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 AAGTTCTGGGCCACACAACGG 0.562 NaN 1 0 2.6416e-12 0.235728 3.07058e-12 37 57 GPR21 2844 broad.mit.edu 37 9 125797575 125797575 + Missense_Mutation SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr9:125797575G>A uc011lzk.1 + 1 730 c.730G>A c.(730-732)GCC>ACC p.A244T RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA NM_005294 NP_005285 Q99679 GPR21_HUMAN G protein-coupled receptor 21 244 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 GGAAGTGCAGGCCTGTCCTGA 0.488 NaN 0 0 0 0.219247 0 20 61 ARSD 414 broad.mit.edu 37 X 2825476 2825476 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:2825476C>T uc004cqy.2 - 10 1694 c.1618G>A c.(1618-1620)GTG>ATG p.V540M ARSD_uc004cqz.1_RNA NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 540 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTTGCTATCACGGCGTGGTAC 0.647 NaN 0 0 0 0.150653 0 4 10 DMD 1756 broad.mit.edu 37 X 32235148 32235148 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:32235148C>T uc004dda.1 - 44 6567 c.6323G>A c.(6322-6324)CGT>CAT p.R2108H DMD_uc004dcw.2_Missense_Mutation_p.R764H|DMD_uc004dcx.2_Missense_Mutation_p.R767H|DMD_uc004dcz.2_Missense_Mutation_p.R1985H|DMD_uc004dcy.1_Missense_Mutation_p.R2104H|DMD_uc004ddb.1_Missense_Mutation_p.R2100H|DMD_uc010ngo.1_Missense_Mutation_p.R17H|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2108 Spectrin 15. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATAATGAAAACGCCGCCATTT 0.348 NaN 0 0 0 0.11911 0 13 11 KIAA1210 57481 broad.mit.edu 37 X 118223492 118223492 + Silent SNP G G A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:118223492G>A uc004era.3 - 11 1701 c.1701C>T c.(1699-1701)GGC>GGT p.G567G NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 567 ovary(4)|skin(1) 5 CAGCTCTATCGCCCAGGCCAT 0.473 NaN 0 0 0 0.108266 0 28 47 ILDR2 387597 broad.mit.edu 37 1 166889977 166889979 + In_Frame_Del DEL CTC CTC - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:166889977_166889979delCTC uc001gdx.1 - 9 1905_1907 c.1849_1851delGAG c.(1849-1851)GAGdel p.E617del NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 617 Cytoplasmic (Potential). integral to membrane ovary(1) 1 TCCTCTTCTTCTCCGAGTTGCTG 0.685 NaN NaN NaN NaN NaN NaN 2 4 --- --- OR2M3 127062 broad.mit.edu 37 1 248366372 248366372 + Frame_Shift_Del DEL G G - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr1:248366372delG uc010pzg.1 + 1 3 c.3delG c.(1-3)ATGfs p.M1fs NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACACATCATGGCAAGGGAGA 0.438 NaN NaN NaN NaN NaN NaN 41 149 --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr13:25671333delA uc001upy.2 + 1 1058 c.997delA c.(997-999)AAAfs p.K333fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 NaN NaN NaN NaN NaN NaN 12 153 --- --- CREBBP 1387 broad.mit.edu 37 16 3828084 3828085 + Frame_Shift_Ins INS - - C TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr16:3828084_3828085insC uc002cvv.2 - 10 2244_2245 c.2040_2041insG c.(2038-2043)GGGAACfs p.G680fs CREBBP_uc002cvw.2_Frame_Shift_Ins_p.G642fs NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 680_681 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGGCTGGTTCCCCAAGATGC 0.46 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome NaN NaN NaN NaN NaN 39 108 --- --- EFCAB5 374786 broad.mit.edu 37 17 28296048 28296049 + Frame_Shift_Ins INS - - A TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr17:28296048_28296049insA uc002het.2 + 4 622_623 c.430_431insA c.(430-432)GAAfs p.E144fs EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Frame_Shift_Ins_p.E88fs|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Frame_Shift_Ins_p.E23fs|EFCAB5_uc010csf.2_Frame_Shift_Ins_p.E23fs NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 144 calcium ion binding ovary(1)|skin(1) 2 GAAGGAACTAGAAAAAAAGGCT 0.366 NaN NaN NaN NaN NaN NaN 6 8 --- --- SCARF2 91179 broad.mit.edu 37 22 20785803 20785803 + Frame_Shift_Del DEL C C - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr22:20785803delC uc002zsj.1 - 4 461 c.356delG c.(355-357)GGCfs p.G119fs SCARF2_uc002zsk.1_Frame_Shift_Del_p.G119fs NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 119 Extracellular (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCAGTCGGGGCCCCAGAACTG 0.716 NaN NaN NaN NaN NaN NaN 2 4 --- --- HIST1H2BO 8348 broad.mit.edu 37 6 27861467 27861477 + Frame_Shift_Del DEL GCGAGGCTTCC GCGAGGCTTCC - rs142034002 byFrequency TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:27861467_27861477delGCGAGGCTTCC uc003nkc.1 + 1 265_275 c.227_237delGCGAGGCTTCC c.(226-237)GGCGAGGCTTCCfs p.G76fs HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 76_79 nucleosome assembly nucleosome|nucleus DNA binding 0 CGCATCGCTGGCGAGGCTTCCCGCCTGGCGC 0.616 NaN NaN NaN NaN NaN NaN 28 67 --- --- IGF2R 3482 broad.mit.edu 37 6 160500714 160500721 + Frame_Shift_Del DEL ACCAAGGG ACCAAGGG - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr6:160500714_160500721delACCAAGGG uc003qta.2 + 38 5729_5736 c.5581_5588delACCAAGGG c.(5581-5589)ACCAAGGGGfs p.T1861fs NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1861_1863 13.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCTCTCAGGCACCAAGGGGGCATCCTTT 0.562 NaN NaN NaN NaN NaN NaN 8 21 --- --- ACTL6B 51412 broad.mit.edu 37 7 100252715 100252716 + Frame_Shift_Ins INS - - T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chr7:100252715_100252716insT uc003uvy.2 - 4 402_403 c.295_296insA c.(295-297)ATCfs p.I99fs ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 99 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTGATCCAGGATGGCTCGGAAG 0.599 NaN NaN NaN NaN NaN NaN 9 30 --- --- CUL4B 8450 broad.mit.edu 37 X 119679350 119679350 + Frame_Shift_Del DEL A A - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7646cdea-bd75-4370-afef-81a8a0b6f194 05d7becd-5cf5-4f96-8a57-e211e00071f9 g.chrX:119679350delA uc004esw.2 - 7 1360 c.923delT c.(922-924)TTGfs p.L308fs CUL4B_uc010nqq.2_Frame_Shift_Del_p.L7fs|CUL4B_uc004esv.2_Frame_Shift_Del_p.L290fs NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 308 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 ATCCAGAAACAAAAAAATGCT 0.308 NaN NaN NaN NaN NaN NaN 2 4 --- ---