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 CHD5 26038 broad.mit.edu 37 1 6188917 6188917 + Silent SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:6188917G>C uc001amb.1 - 23 3700 c.3600C>G c.(3598-3600)CTC>CTG p.L1200L CHD5_uc001alz.1_Silent_p.L57L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1200 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGTCCTTGAAGAGTTCCTCCG 0.667 NaN 0 0 0 0.248553 0 6 69 MASP2 10747 broad.mit.edu 37 1 11105485 11105485 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:11105485C>T uc001aru.2 - 4 545 c.524G>A c.(523-525)CGT>CAT p.R175H MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 175 EGF-like; calcium-binding. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GCGCTTGTTACGGTGCAGGAC 0.687 NaN 0 0 0 0.788014 0 29 47 UBR4 23352 broad.mit.edu 37 1 19491418 19491418 + Silent SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:19491418C>T uc001bbi.2 - 32 4390 c.4386G>A c.(4384-4386)GTG>GTA p.V1462V UBR4_uc001bbm.1_Silent_p.V673V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1462 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCTGCAGGCGCACAGGTTCCA 0.577 NaN 0 0 0 0.435327 0 11 59 MACF1 23499 broad.mit.edu 37 1 39801075 39801075 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:39801075C>G uc010oiu.1 + 1 4266 c.4135C>G c.(4135-4137)CAA>GAA p.Q1379E MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2944 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGAGAAAATCAAGGGGAAGT 0.378 NaN 0 0 0 0.361761 0 8 81 KCNQ4 9132 broad.mit.edu 37 1 41285143 41285143 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:41285143C>T uc001cgh.1 + 5 915 c.833C>T c.(832-834)ACG>ATG p.T278M KCNQ4_uc001cgi.1_Missense_Mutation_p.T278M NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 278 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGGTGGGGGACGGTGCGTGAG 0.627 NaN 0 0 0 0.361761 0 9 149 ZFYVE9 9372 broad.mit.edu 37 1 52740153 52740153 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:52740153C>G uc001cto.2 + 8 2815 c.2643C>G c.(2641-2643)TTC>TTG p.F881L ZFYVE9_uc001ctp.2_Missense_Mutation_p.F822L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 881 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TTTGTCTATTCTCTGGGAGTA 0.398 NaN 0 0 0 0.307466 0 6 190 INADL 10207 broad.mit.edu 37 1 62614061 62614061 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:62614061G>C uc001dab.2 + 42 5491 c.5377G>C c.(5377-5379)GAG>CAG p.E1793Q INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.E577Q NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1793 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AGAAGACACAGAGTGAGTATT 0.478 NaN 0 0 0 0.819951 0 35 95 TNNI3K 51086 broad.mit.edu 37 1 74954930 74954930 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:74954930G>A uc001dgf.1 + 22 2230 c.2179G>A c.(2179-2181)GAG>AAG p.E727K TNNI3K_uc001dge.1_Missense_Mutation_p.E828K NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 727 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CTGCAACATTGAGGTAAAAGC 0.373 NaN 0 0 0 0.217242 0 6 63 ZNHIT6 54680 broad.mit.edu 37 1 86173471 86173471 + Missense_Mutation SNP T T C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:86173471T>C uc001dlh.2 - 1 631 c.497A>G c.(496-498)AAG>AGG p.K166R ZNHIT6_uc010osc.1_Missense_Mutation_p.K127R NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN zinc finger, HIT type 6 166 Glu-rich. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding large_intestine(1) 1 ACCAACAAACTTCTCCTCCTG 0.408 NaN 0 0 0 0.819951 0 29 237 C1orf183 55924 broad.mit.edu 37 1 112269624 112269624 + Missense_Mutation SNP G G A rs112881255 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:112269624G>A uc001ebo.1 - 2 1018 c.860C>T c.(859-861)TCA>TTA p.S287L C1orf183_uc001ebp.1_Missense_Mutation_p.S272L NM_019099 NP_061972 Q9NTI7 CA183_HUMAN hypothetical protein LOC55924 isoform 1 287 ovary(2) 2 all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05) Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113) ATCAAATCCTGAGGGTGAGTG 0.597 NaN 0 0 0 0.859065 0 34 310 AMPD1 270 broad.mit.edu 37 1 115220970 115220970 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:115220970G>C uc001efe.1 - 8 1160 c.1076C>G c.(1075-1077)TCT>TGT p.S359C AMPD1_uc001eff.1_Missense_Mutation_p.S355C NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 359 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AACATCCAGAGAATCAACAGT 0.428 NaN 0 0 0 0.639603 0 19 150 LYSMD1 388695 broad.mit.edu 37 1 151134376 151134376 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:151134376C>G uc001ewy.2 - 2 1017 c.381G>C c.(379-381)GAG>GAC p.E127D LYSMD1_uc010pcr.1_Missense_Mutation_p.E79D NM_212551 NP_997716 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain 127 cell wall macromolecule catabolic process 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGCTCCTGTCTCTTGTTTCT 0.507 NaN 0 0 0 0.335167 0 10 70 FLG 2312 broad.mit.edu 37 1 152282758 152282758 + Nonsense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:152282758G>C uc001ezu.1 - 3 4640 c.4604C>G c.(4603-4605)TCA>TGA p.S1535* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1535 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGGGTCCTGACTGCCCATG 0.567 NaN Ichthyosis 0 0 0 0.870114 0 47 377 SEMA4A 64218 broad.mit.edu 37 1 156131202 156131202 + Silent SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:156131202C>G uc001fnl.2 + 9 980 c.876C>G c.(874-876)CTC>CTG p.L292L SEMA4A_uc009wrq.2_Silent_p.L292L|SEMA4A_uc001fnm.2_Silent_p.L292L|SEMA4A_uc001fnn.2_Silent_p.L160L|SEMA4A_uc001fno.2_Silent_p.L292L NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 292 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCCAGCTGCTCTGCACCCAGC 0.667 NaN 0 0 0 0.520397 0 16 102 PAPPA2 60676 broad.mit.edu 37 1 176564215 176564215 + Missense_Mutation SNP C C T rs116090626 by1000genomes TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:176564215C>T uc001gkz.2 + 3 2639 c.1475C>T c.(1474-1476)TCG>TTG p.S492L PAPPA2_uc001gky.1_Missense_Mutation_p.S492L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 492 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAGATTCTGTCGCCTTTGCAG 0.522 NaN 0 0 0 0.608945 0 21 35 TLR5 7100 broad.mit.edu 37 1 223284277 223284277 + Missense_Mutation SNP G G T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:223284277G>T uc001hnv.1 - 4 2543 c.2097C>A c.(2095-2097)TTC>TTA p.F699L TLR5_uc001hnw.1_Missense_Mutation_p.F699L NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 699 Cytoplasmic (Potential).|TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) CTTTGCTGCTGAAGCACAAAT 0.438 NaN 1 0 0.000602214 0.184627 0.000619927 4 90 FBXO28 23219 broad.mit.edu 37 1 224318184 224318184 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:224318184G>C uc001hoh.2 + 2 319 c.278G>C c.(277-279)AGA>ACA p.R93T FBXO28_uc009xef.2_Missense_Mutation_p.R93T|FBXO28_uc010pvc.1_5'UTR NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 93 F-box. ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) GTTTGTAAAAGAATGGACTTG 0.373 NaN 0 0 0 0.307466 0 8 74 RYR2 6262 broad.mit.edu 37 1 237947659 237947659 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:237947659C>T uc001hyl.1 + 90 12767 c.12647C>T c.(12646-12648)GCG>GTG p.A4216V RYR2_uc010pya.1_Missense_Mutation_p.A631V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4216 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGAGGTCAGCGAATAAGGAA 0.542 NaN 0 0 0 0.729181 0 25 40 GDF2 2658 broad.mit.edu 37 10 48414152 48414152 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:48414152G>A uc001jfa.1 - 2 879 c.716C>T c.(715-717)ACG>ATG p.T239M NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 239 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GATGTCCAGCGTGTCGCAGCC 0.582 NaN 0 0 0 0.639603 0 24 36 PPP3CB 5532 broad.mit.edu 37 10 75214224 75214224 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:75214224G>C uc001jue.2 - 10 1267 c.1132C>G c.(1132-1134)CTG>GTG p.L378V PPP3CB_uc001juf.2_Missense_Mutation_p.L378V|PPP3CB_uc001jug.2_Missense_Mutation_p.L378V|PPP3CB_uc001jui.2_Missense_Mutation_p.L396V|PPP3CB_uc001juh.2_Missense_Mutation_p.L292V|PPP3CB_uc010qkj.1_Missense_Mutation_p.L6V NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 378 skin(1) 1 Prostate(51;0.0119) CAAATACTCAGAACATTTACC 0.303 NaN 0 0 0 0.435327 0 10 110 KIF20B 9585 broad.mit.edu 37 10 91511157 91511157 + Missense_Mutation SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:91511157A>G uc001kgs.1 + 24 4223 c.4151A>G c.(4150-4152)CAG>CGG p.Q1384R KIF20B_uc001kgr.1_Missense_Mutation_p.Q1344R|KIF20B_uc001kgt.1_Missense_Mutation_p.Q595R|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1384 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CTAGAAGAACAGGAACAAACT 0.358 NaN 0 0 0 0.769981 0 27 223 UBTD1 80019 broad.mit.edu 37 10 99327844 99327844 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:99327844G>A uc001knv.1 + 2 437 c.244G>A c.(244-246)GAC>AAC p.D82N NM_024954 NP_079230 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 82 0 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) TGAAGCCAACGACCACGAGCT 0.637 NaN 0 0 0 0.870114 0 34 76 INPP5F 22876 broad.mit.edu 37 10 121551496 121551496 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:121551496C>T uc001leo.2 + 5 726 c.560C>T c.(559-561)TCC>TTC p.S187F INPP5F_uc001len.3_Missense_Mutation_p.S187F NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 187 SAC. phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTGACCAATTCCGTGCAGAGG 0.507 NaN 0 0 0 0.750413 0 27 179 UROS 7390 broad.mit.edu 37 10 127483469 127483469 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:127483469C>T uc001liw.3 - 8 773 c.640G>A c.(640-642)GAC>AAC p.D214N UROS_uc001liv.3_Missense_Mutation_p.D95N|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.D214N|UROS_uc001liy.3_RNA NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 214 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) TCGATATTGTCACCAGATAAC 0.373 NaN 0 0 0 0.335167 0 8 82 HRAS 3265 broad.mit.edu 37 11 534288 534288 + Missense_Mutation SNP C C T rs104894230 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:534288C>T uc001lpv.2 - 2 223 c.35G>A c.(34-36)GGC>GAC p.G12D HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 12 GTP. G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCCACACCGCCGGCGCCCAC 0.647 G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST) 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 0 0 0 0.870114 0 39 13 OSBPL5 114879 broad.mit.edu 37 11 3147784 3147784 + Silent SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:3147784C>T uc001lxk.2 - 3 296 c.138G>A c.(136-138)GGG>GGA p.G46G OSBPL5_uc010qxq.1_5'UTR|OSBPL5_uc009ydw.2_Silent_p.G46G|OSBPL5_uc001lxl.2_Silent_p.G46G|OSBPL5_uc009ydx.2_Silent_p.G70G|OSBPL5_uc001lxm.1_RNA NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 46 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCATGTCCTTCCCTGCAAGAG 0.667 NaN 0 0 0 0.184627 0 4 26 DKK3 27122 broad.mit.edu 37 11 12030017 12030017 + Missense_Mutation SNP A A T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:12030017A>T uc001mju.2 - 1 170 c.113T>A c.(112-114)CTC>CAC p.L38H DKK3_uc010rcf.1_Missense_Mutation_p.L38H|DKK3_uc001mjv.2_Missense_Mutation_p.L38H|DKK3_uc001mjw.2_Missense_Mutation_p.L38H|DKK3_uc010rcg.1_Missense_Mutation_p.L38H|DKK3_uc001mjx.2_Missense_Mutation_p.L38H NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 38 O-glycosylated at one site. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) CGGGTAGCTGAGAGCCGGGCC 0.701 NaN 0 0 0 0.779181 0 30 5 TEAD1 7003 broad.mit.edu 37 11 12946588 12946588 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:12946588G>C uc001mkj.3 + 11 1623 c.958G>C c.(958-960)GAA>CAA p.E320Q TEAD1_uc001mkk.3_Missense_Mutation_p.E239Q|TEAD1_uc009ygl.2_Missense_Mutation_p.E156Q NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 335 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GCAAGTAGTAGAAAAAGTAGA 0.433 NaN 0 0 0 0.115264 0 3 59 KCNC1 3746 broad.mit.edu 37 11 17793941 17793941 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:17793941G>A uc001mnk.3 + 2 1355 c.1300G>A c.(1300-1302)GTC>ATC p.V434I KCNC1_uc009yhc.1_Missense_Mutation_p.V434I NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 434 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 GCCCGTGCCCGTCATCGTGAA 0.577 NaN 0 0 0 0.539581 0 15 86 SPRYD5 84767 broad.mit.edu 37 11 55658785 55658785 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:55658785C>T uc010rip.1 + 7 1128 c.1036C>T c.(1036-1038)CAT>TAT p.H346Y SPRYD5_uc010riq.1_Missense_Mutation_p.H203Y NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 346 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) TTGGGAGGTTCATATGGGGGA 0.428 NaN 0 0 0 0.411799 0 12 96 PCNXL3 399909 broad.mit.edu 37 11 65403111 65403111 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr11:65403111C>T uc001oey.2 + 32 5296 c.5296C>T c.(5296-5298)CGC>TGC p.R1766C PCNXL3_uc001oez.2_Missense_Mutation_p.R653C NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1766 integral to membrane 0 GCAGGCGCTTCGCAACATGAT 0.677 NaN 0 0 0 0.307466 0 8 21 ABCC9 10060 broad.mit.edu 37 12 21958155 21958155 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr12:21958155C>T uc001rfi.1 - 38 4623 c.4603G>A c.(4603-4605)GCC>ACC p.A1535T ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.A1499T|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1535 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTCTTGTGGGCGAGCAAATTT 0.438 NaN 0 0 0 0.335167 0 8 48 SOX5 6660 broad.mit.edu 37 12 23699264 23699264 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr12:23699264C>G uc001rfw.2 - 12 1685 c.1583G>C c.(1582-1584)AGT>ACT p.S528T SOX5_uc001rfx.2_Missense_Mutation_p.S515T|SOX5_uc001rfy.2_Missense_Mutation_p.S407T|SOX5_uc001rfv.2_Missense_Mutation_p.S142T|SOX5_uc010siv.1_Missense_Mutation_p.S515T|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Missense_Mutation_p.S480T NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 528 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 AGAATCTCCACTCAGATTGAA 0.343 NaN 0 0 0 0.27861 0 7 109 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr12:56478854G>A uc001sjh.2 + 3 503 c.310G>A c.(310-312)GTG>ATG p.V104M ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517 NaN 0 0 0 0.870114 0 63 106 ACSS3 79611 broad.mit.edu 37 12 81568654 81568654 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr12:81568654G>A uc001szl.1 + 8 1277 c.1186G>A c.(1186-1188)GCA>ACA p.A396T ACSS3_uc001szm.1_Missense_Mutation_p.A395T|ACSS3_uc001szn.1_Missense_Mutation_p.A78T NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 396 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AGCACCAACTGCAATTAGAGC 0.512 NaN 0 0 0 0.435327 0 14 46 DDX51 317781 broad.mit.edu 37 12 132624237 132624237 + Silent SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr12:132624237C>T uc001ujy.3 - 14 1956 c.1917G>A c.(1915-1917)CTG>CTA p.L639L NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 639 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) CCAGCGGCTGCAGCAGCTTGC 0.612 NaN 0 0 0 0.115264 0 3 30 SLC7A7 9056 broad.mit.edu 37 14 23244697 23244697 + Missense_Mutation SNP T T C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:23244697T>C uc001wgr.3 - 7 1189 c.1051A>G c.(1051-1053)ATC>GTC p.I351V SLC7A7_uc001wgs.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgt.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgu.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgv.3_Missense_Mutation_p.I351V NM_003982 NP_003973 Q9UM01 YLAT1_HUMAN solute carrier family 7 member 7 351 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity ovary(1)|breast(1) 2 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) TCAACATGGATCATGCAGATG 0.473 NaN 0 0 0 0.608945 0 20 107 ARHGAP5 394 broad.mit.edu 37 14 32563175 32563175 + Silent SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:32563175A>G uc001wrl.2 + 2 3539 c.3300A>G c.(3298-3300)AAA>AAG p.K1100K ARHGAP5_uc001wrm.2_Silent_p.K1100K|ARHGAP5_uc001wrn.2_Silent_p.K1100K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1100 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAATTTTCAAACAGAAGGGCT 0.383 NaN 0 0 0 0.788014 0 30 57 ARF6 382 broad.mit.edu 37 14 50360895 50360895 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:50360895G>A uc001wxg.3 + 2 1062 c.441G>A c.(439-441)AGG>AGA p.R147R NM_001663 NP_001654 P62330 ARF6_HUMAN ADP-ribosylation factor 6 147 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding 0 all_epithelial(31;0.000822)|Breast(41;0.0117) TTCGGGACAGGAACTGGTATG 0.542 NaN 0 0 0 0.307466 0 6 44 KCNH5 27133 broad.mit.edu 37 14 63175164 63175164 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:63175164G>A uc001xfx.2 - 11 2080 c.2029C>T c.(2029-2031)CGT>TGT p.R677C KCNH5_uc001xfy.2_Missense_Mutation_p.S611L NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 677 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTGATCTTACGAAAGATGATC 0.458 NaN 0 0 0 0.115264 0 3 62 MAP3K9 4293 broad.mit.edu 37 14 71199958 71199958 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:71199958C>T uc001xmm.2 - 11 2128 c.2128G>A c.(2128-2130)GAT>AAT p.D710N MAP3K9_uc010ttk.1_Missense_Mutation_p.D438N|MAP3K9_uc001xmk.2_Missense_Mutation_p.D443N|MAP3K9_uc001xml.2_Missense_Mutation_p.D724N NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 710 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GAGGGGCCATCGCCATCCTCT 0.433 NaN 0 0 0 0.361761 0 6 75 EIF2B2 8892 broad.mit.edu 37 14 75470268 75470268 + Missense_Mutation SNP G G A rs17849324 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:75470268G>A uc001xrc.1 + 3 381 c.299G>A c.(298-300)AGC>AAC p.S100N NM_014239 NP_055054 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, 100 RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002). cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00661) CATGGACGCAGCGACGAGAGT 0.527 NaN 0 0 0 0.834066 0 30 73 SPTLC2 9517 broad.mit.edu 37 14 78023407 78023407 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:78023407G>A uc001xub.2 - 7 1121 c.933C>T c.(931-933)CTC>CTT p.L311L NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 311 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCACAAGGATGAGAATTTTCT 0.393 NaN 0 0 0 0.27861 0 5 60 SPTLC2 9517 broad.mit.edu 37 14 78023409 78023409 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:78023409G>A uc001xub.2 - 7 1119 c.931C>T c.(931-933)CTC>TTC p.L311F NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 311 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACAAGGATGAGAATTTTCTTC 0.393 NaN 0 0 0 0.248553 0 4 59 KIF26A 26153 broad.mit.edu 37 14 104618365 104618365 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr14:104618365C>T uc001yos.3 + 3 302 c.302C>T c.(301-303)TCT>TTT p.S101F NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 101 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCTTGCCTCTCTGCCCTGCTT 0.672 NaN 0 0 0 0.27861 0 6 53 C15orf55 256646 broad.mit.edu 37 15 34647806 34647806 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr15:34647806G>A uc001zif.2 + 7 1668 c.1513G>A c.(1513-1515)GAT>AAT p.D505N C15orf55_uc010ucc.1_Missense_Mutation_p.D533N|C15orf55_uc010ucd.1_Missense_Mutation_p.D523N NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 505 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TGAAGATGGGGATGGGCGGCT 0.582 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.335167 0 8 69 C15orf55 256646 broad.mit.edu 37 15 34648553 34648553 + Nonsense_Mutation SNP G G T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr15:34648553G>T uc001zif.2 + 7 2415 c.2260G>T c.(2260-2262)GAG>TAG p.E754* C15orf55_uc010ucc.1_Nonsense_Mutation_p.E782*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.E772* NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 754 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GTGTGTAACTGAGTATCAGGA 0.532 NaN T BRD3|BRD4 lethal midline carcinoma 1 0 0.00307968 0.27861 0.00314712 7 79 VPS13C 54832 broad.mit.edu 37 15 62228840 62228840 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr15:62228840C>G uc002agz.2 - 48 5785 c.5711G>C c.(5710-5712)AGA>ACA p.R1904T VPS13C_uc002aha.2_Missense_Mutation_p.R1861T|VPS13C_uc002ahb.1_Missense_Mutation_p.R1904T|VPS13C_uc002ahc.1_Missense_Mutation_p.R1861T NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1904 protein localization ovary(2) 2 TTTTCTCACTCTTACAGTCTC 0.348 NaN 0 0 0 0.335167 0 8 48 C15orf32 145858 broad.mit.edu 37 15 93015655 93015655 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr15:93015655G>C uc002brc.1 + 1 749 c.277G>C c.(277-279)GAT>CAT p.D93H C15orf32_uc010bod.1_RNA NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 93 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) ctcacgagtggATGGTTTGAT 0.279 NaN 0 0 0 0.479597 0 12 63 UQCRC2 7385 broad.mit.edu 37 16 21968590 21968590 + Missense_Mutation SNP A A C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr16:21968590A>C uc002djx.2 + 2 204 c.68A>C c.(67-69)AAA>ACA p.K23T UQCRC2_uc002djy.2_Missense_Mutation_p.K23T|UQCRC2_uc010bxa.2_RNA NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 23 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) CCCAAAGTTAAAGCCACAGCT 0.448 NaN 0 0 0 0.779181 0 26 33 CMIP 80790 broad.mit.edu 37 16 81712168 81712168 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr16:81712168G>A uc002fgp.2 + 10 1395 c.1323G>A c.(1321-1323)ATG>ATA p.M441I CMIP_uc002fgq.1_Missense_Mutation_p.M347I|CMIP_uc010vnq.1_Missense_Mutation_p.M254I|CMIP_uc002fgr.1_Missense_Mutation_p.M288I NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 407 cytoplasm|nucleus 0 GCAGCACCATGAGCATCGAGC 0.572 NaN 0 0 0 0.479597 0 13 17 ACAP1 9744 broad.mit.edu 37 17 7240683 7240683 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:7240683G>C uc002ggd.2 + 2 312 c.106G>C c.(106-108)GAA>CAA p.E36Q NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 36 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 GACCCGTCTGGAAAAGGTGAC 0.557 NaN 0 0 0 0.115264 0 3 107 CRLF3 51379 broad.mit.edu 37 17 29119551 29119551 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:29119551C>T uc002hfr.3 - 6 975 c.866G>A c.(865-867)CGA>CAA p.R289Q CRLF3_uc010wbr.1_Missense_Mutation_p.R173Q NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 289 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) TATATTTCTTCGACTGCTCAG 0.418 NaN 0 0 0 0.870114 0 41 141 PEX12 5193 broad.mit.edu 37 17 33903110 33903110 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:33903110G>A uc002hjp.2 - 3 1387 c.771C>T c.(769-771)TTC>TTT p.F257F NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 257 Helical; (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGAACTGCAAGAAGAATACAC 0.468 NaN 0 0 0 0.812448 0 37 68 CDK12 51755 broad.mit.edu 37 17 37687082 37687082 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:37687082C>T uc010cvv.2 + 14 4572 c.3986C>T c.(3985-3987)TCC>TTC p.S1329F CDK12_uc002hrw.3_Missense_Mutation_p.S1320F NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 1329 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 ATGGAGTACTCCACCCGACCC 0.562 NaN TCGA Ovarian(9;0.13) 0 0 0 0.870114 0 50 62 TBKBP1 9755 broad.mit.edu 37 17 45787901 45787901 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:45787901G>A uc002ilu.2 + 9 2606 c.1757G>A c.(1756-1758)TGC>TAC p.C586Y NM_014726 NP_055541 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 586 innate immune response 0 ATCCGCAGCTGCCCCCTCTGC 0.602 NaN 0 0 0 0.150653 0 4 65 CACNA1G 8913 broad.mit.edu 37 17 48699087 48699087 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr17:48699087C>G uc002irk.1 + 35 6364 c.5992C>G c.(5992-5994)CTA>GTA p.L1998V CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.L1975V|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.L1927V|CACNA1G_uc002iru.1_Missense_Mutation_p.L1964V|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.L1900V|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1998 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTCCTGCTCTCTAGCTCTGAC 0.522 NaN 0 0 0 0.307466 0 6 54 WDR7 23335 broad.mit.edu 37 18 54547217 54547217 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr18:54547217C>G uc002lgk.1 + 21 3558 c.3347C>G c.(3346-3348)TCT>TGT p.S1116C WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S1083C NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1116 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) ATTTCTACATCTTACGAGGAA 0.358 NaN 0 0 0 0.217242 0 5 59 PCSK4 54760 broad.mit.edu 37 19 1487828 1487828 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:1487828G>A uc002ltb.1 - 5 611 c.549C>T c.(547-549)TAC>TAT p.Y183Y PCSK4_uc002lta.2_Missense_Mutation_p.T25M NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 183 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCGGGTCGTAGTCATTGA 0.692 NaN 0 0 0 0.150653 0 3 3 SCAMP4 113178 broad.mit.edu 37 19 1924163 1924163 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:1924163G>C uc002luj.2 + 7 677 c.570G>C c.(568-570)TGG>TGC p.W190C SCAMP4_uc002luk.2_Missense_Mutation_p.W156C|SCAMP4_uc010dss.2_Missense_Mutation_p.W146C NM_079834 NP_524558 Q969E2 SCAM4_HUMAN secretory carrier membrane protein 4 190 Cytoplasmic (Potential). protein transport integral to membrane 0 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGACGGAGTGGAACACGGGCA 0.612 NaN 0 0 0 0.150653 0 4 26 CYP4F2 8529 broad.mit.edu 37 19 16008382 16008382 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:16008382C>G uc002nbs.1 - 2 90 c.40G>C c.(40-42)GTG>CTG p.V14L CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 14 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GATGCTGCCACTGGCCAGAGG 0.672 NaN 0 0 0 0.38729 0 11 46 ACTN4 81 broad.mit.edu 37 19 39200089 39200089 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:39200089G>A uc002oja.1 + 7 765 c.706G>A c.(706-708)GAC>AAC p.D236N ACTN4_uc010egc.1_Missense_Mutation_p.D236N NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 236 Actin-binding.|CH 2. 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) GAAATACCTCGACATCCCCAA 0.557 NaN 0 0 0 0.592651 0 17 81 FBXO27 126433 broad.mit.edu 37 19 39516171 39516171 + Missense_Mutation SNP G G C rs151102214 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:39516171G>C uc002okh.2 - 6 814 c.732C>G c.(730-732)ATC>ATG p.I244M NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 244 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CGCCCATCTTGATGTTGGAGA 0.572 NaN 0 0 0 0.115264 0 3 52 ERCC2 2068 broad.mit.edu 37 19 45854898 45854898 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:45854898G>C uc002pbj.2 - 23 2319 c.2272C>G c.(2272-2274)CAG>GAG p.Q758E ERCC2_uc002pbh.2_Missense_Mutation_p.Q321E|ERCC2_uc002pbi.2_Missense_Mutation_p.Q451E|ERCC2_uc010ejz.2_Missense_Mutation_p.Q680E NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 758 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CAGAGCTGCTGAGCAATCTGC 0.592 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.870114 0 39 283 ZNF808 388558 broad.mit.edu 37 19 53056856 53056856 + Silent SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:53056856A>G uc010epq.1 + 5 864 c.687A>G c.(685-687)AAA>AAG p.K229K ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TGAGAGAAAAATCTTTCCCAT 0.373 NaN 0 0 0 0.150653 0 4 229 VN1R4 317703 broad.mit.edu 37 19 53770826 53770826 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:53770826G>A uc010ydu.1 - 1 93 c.93C>T c.(91-93)TCC>TCT p.S31S NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 31 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) TGCAGTAAAAGGAGAGATAAT 0.507 NaN HNSCC(26;0.072) 0 0 0 0.217242 0 6 78 ZNF776 284309 broad.mit.edu 37 19 58265941 58265941 + Silent SNP T T C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr19:58265941T>C uc002qpx.2 + 3 1666 c.1443T>C c.(1441-1443)ATT>ATC p.I481I ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 481 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) ATCAGCAGATTCACTCTGGAG 0.448 NaN 0 0 0 0.184627 0 3 111 ITSN2 50618 broad.mit.edu 37 2 24521611 24521611 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:24521611G>C uc002rfe.2 - 13 1675 c.1417C>G c.(1417-1419)CAA>GAA p.Q473E ITSN2_uc002rff.2_Missense_Mutation_p.Q473E|ITSN2_uc002rfg.2_Missense_Mutation_p.Q473E|ITSN2_uc010eyd.2_Missense_Mutation_p.Q498E NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 473 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTATTCTTTTGATTGAGAAGC 0.368 NaN 0 0 0 0.457914 0 11 101 AFTPH 54812 broad.mit.edu 37 2 64778744 64778744 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:64778744G>C uc002sdc.2 + 1 168 c.136G>C c.(136-138)GAT>CAT p.D46H AFTPH_uc002scz.2_Missense_Mutation_p.D46H|AFTPH_uc002sda.2_Missense_Mutation_p.D46H|AFTPH_uc002sdb.2_Missense_Mutation_p.D46H NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 46 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 AGGGTTTGTTGATTTCGATAC 0.408 NaN 0 0 0 0.870114 0 99 132 LOC285033 285033 broad.mit.edu 37 2 96906235 96906235 + Silent SNP T T A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:96906235T>A uc002svp.1 + 1 259 c.174T>A c.(172-174)TCT>TCA p.S58S LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Silent_p.S135S NM_001037228 NP_001032305 Q3KRF4 Q3KRF4_HUMAN hypothetical protein LOC285033 58 0 TCAACTCTTCTCAGGACCAGA 0.537 NaN 0 0 0 0.27861 0 5 88 ANKRD36 375248 broad.mit.edu 37 2 97869979 97869979 + Missense_Mutation SNP G G T rs111515821 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:97869979G>T uc010yva.1 + 50 3284 c.3040G>T c.(3040-3042)GAT>TAT p.D1014Y ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1014 0 AGGAAAAAAGGATGGAGAAAA 0.289 NaN 1 0 0.004672 0.115264 0.00473971 3 9 AFF3 3899 broad.mit.edu 37 2 100210557 100210557 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:100210557C>G uc002tag.2 - 14 1802 c.1566G>C c.(1564-1566)GAG>GAC p.E522D AFF3_uc002taf.2_Missense_Mutation_p.E547D|AFF3_uc010fiq.1_Missense_Mutation_p.E522D|AFF3_uc010yvr.1_Missense_Mutation_p.E675D|AFF3_uc002tah.1_Missense_Mutation_p.E547D NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 522 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TGCTCTTGATCTCCTTCTCTC 0.602 NaN 0 0 0 0.248553 0 6 132 LY75 4065 broad.mit.edu 37 2 160628465 160628465 + Missense_Mutation SNP G G T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:160628465G>T uc002ubb.3 - 39 5588 c.5519C>A c.(5518-5520)TCT>TAT p.S1840Y LY75_uc010fos.2_Missense_Mutation_p.S1784Y|CD302_uc002uba.2_Missense_Mutation_p.S199Y|CD302_uc010zco.1_Missense_Mutation_p.S141Y NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) GGTGAAACGAGAATCAGAATG 0.368 NaN 1 0 2.42023e-17 0.779181 2.54761e-17 28 59 PLA2R1 22925 broad.mit.edu 37 2 160808060 160808060 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:160808060C>G uc002ube.1 - 24 3538 c.3331G>C c.(3331-3333)GAT>CAT p.D1111H PLA2R1_uc010zcp.1_Missense_Mutation_p.D1111H|PLA2R1_uc002ubf.2_Missense_Mutation_p.D1111H NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1111 Extracellular (Potential). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 GGATACATATCAGATGTATTT 0.363 NaN 0 0 0 0.115264 0 3 88 SCN1A 6323 broad.mit.edu 37 2 166848014 166848014 + Missense_Mutation SNP C C A rs3749029 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:166848014C>A uc010zcz.1 - 26 5756 c.5738G>T c.(5737-5739)CGT>CTT p.R1913L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1924 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTGTAAGCACGCTGAATAAT 0.388 NaN 1 0 6.04164e-23 0.750413 6.4078e-23 28 64 SF3B1 23451 broad.mit.edu 37 2 198265573 198265573 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:198265573C>T uc002uue.2 - 18 2632 c.2584G>A c.(2584-2586)GAA>AAA p.E862K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 862 HEAT 7. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTGTACTGTTCGGCTTCATCT 0.373 NaN 0 0 0 0.479597 0 13 82 GIGYF2 26058 broad.mit.edu 37 2 233710441 233710441 + Splice_Site SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr2:233710441G>A uc002vti.3 + 28 3643 c.3306_splice c.e28-1 p.S1102_splice GIGYF2_uc002vtj.3_Splice_Site_p.S1123_splice|GIGYF2_uc002vtk.3_Splice_Site_p.S1102_splice|GIGYF2_uc002vth.3_Splice_Site_p.S1096_splice|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Splice_Site_p.S435_splice NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTTGCTTTAGTAAATCTGTA 0.353 NaN 0 0 0 0.520397 0 16 44 RAE1 8480 broad.mit.edu 37 20 55929795 55929795 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr20:55929795G>A uc002xyg.2 + 3 459 c.118G>A c.(118-120)GAT>AAT p.D40N RAE1_uc010gis.1_Missense_Mutation_p.M1I|RAE1_uc010git.1_Missense_Mutation_p.D40N|RAE1_uc002xyh.2_Missense_Mutation_p.D40N|RAE1_uc002xyi.2_Missense_Mutation_p.D40N NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 40 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) ATCTCCTGATGATAGCATTGG 0.398 NaN 0 0 0 0.411799 0 9 89 CDH4 1002 broad.mit.edu 37 20 60318751 60318751 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr20:60318751C>T uc002ybn.1 + 3 316 c.302C>T c.(301-303)ACG>ATG p.T101M CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.T27M NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 101 adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTGGCGTTCACGGTGACTGCA 0.607 NaN 0 0 0 0.217242 0 5 12 AGPAT3 56894 broad.mit.edu 37 21 45401024 45401024 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr21:45401024G>A uc002zdv.2 + 9 1220 c.998G>A c.(997-999)GGA>GAA p.G333E AGPAT3_uc002zdw.2_Missense_Mutation_p.G333E|AGPAT3_uc002zdx.2_Missense_Mutation_p.G420E|AGPAT3_uc002zdy.2_Missense_Mutation_p.G271E NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 333 Helical; (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TTTGCCAGCGGATCACCTCTC 0.572 NaN 0 0 0 0.479597 0 13 96 HIC2 23119 broad.mit.edu 37 22 21800133 21800133 + Missense_Mutation SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr22:21800133A>G uc002zur.3 + 3 1179 c.949A>G c.(949-951)AGC>GGC p.S317G HIC2_uc002zus.3_Missense_Mutation_p.S317G NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 317 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CAACCACCTGAGCCTGCTGGA 0.657 NaN 0 0 0 0.248553 0 7 20 DEPDC5 9681 broad.mit.edu 37 22 32241198 32241198 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr22:32241198G>A uc003als.2 + 30 3111 c.2969G>A c.(2968-2970)CGG>CAG p.R990Q DEPDC5_uc011als.1_Missense_Mutation_p.R921Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R999Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R990Q|DEPDC5_uc003alu.2_Missense_Mutation_p.R439Q|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.R320Q|DEPDC5_uc003alw.2_Missense_Mutation_p.R288Q|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 990 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ATTCGCAGGCGGCATCGCTCG 0.607 NaN 0 0 0 0.520397 0 16 19 EP300 2033 broad.mit.edu 37 22 41564853 41564853 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr22:41564853G>A uc003azl.3 + 25 4549 c.4154G>A c.(4153-4155)TGC>TAC p.C1385Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1385 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.C1385F(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGCTCTGACTGCCCTCCACCC 0.473 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.706142 0 23 143 XRCC6 2547 broad.mit.edu 37 22 42042976 42042976 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr22:42042976C>T uc003bao.1 + 7 920 c.850C>T c.(850-852)CCT>TCT p.P284S XRCC6_uc003bap.1_Missense_Mutation_p.P243S|XRCC6_uc011apc.1_Missense_Mutation_p.P234S|XRCC6_uc003baq.1_Missense_Mutation_p.P284S|XRCC6_uc003bar.1_Missense_Mutation_p.P284S|XRCC6_uc003bas.1_Missense_Mutation_p.P234S NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 284 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 TCTCAAGCCTCCTCCAATAAA 0.433 NaN Direct_reversal_of_damage|NHEJ 0 0 0 0.750413 0 25 217 FBLN1 2192 broad.mit.edu 37 22 45927195 45927195 + Missense_Mutation SNP C C A rs147266682 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr22:45927195C>A uc003bgj.1 + 5 682 c.535C>A c.(535-537)CGC>AGC p.R179S FBLN1_uc003bgg.1_Missense_Mutation_p.R179S|FBLN1_uc003bgh.2_Missense_Mutation_p.R179S|FBLN1_uc010gzz.2_Missense_Mutation_p.R217S|FBLN1_uc003bgi.1_Missense_Mutation_p.R179S NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 179 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCTGAATGACCGCTGCCGAGG 0.398 NaN 1 0 9.80977e-26 0.796494 1.04837e-25 29 43 GRM7 2917 broad.mit.edu 37 3 7456742 7456742 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:7456742G>A uc003bqm.2 + 5 1340 c.1066G>A c.(1066-1068)GAA>AAA p.E356K GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E356K|GRM7_uc003bql.2_Missense_Mutation_p.E356K|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 356 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CCGTACACTTGAAAACAACAG 0.403 NaN 0 0 0 0.435327 0 12 31 CELSR3 1951 broad.mit.edu 37 3 48699002 48699002 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:48699002C>G uc003cul.2 - 1 1347 c.1066G>C c.(1066-1068)GAG>CAG p.E356Q CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 356 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCCCGGCCTCGCCGGCGTCC 0.672 NaN 0 0 0 0.457914 0 12 51 SEMA5B 54437 broad.mit.edu 37 3 122634684 122634684 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:122634684C>T uc003efz.1 - 13 2046 c.1742G>A c.(1741-1743)CGT>CAT p.R581H SEMA5B_uc011bju.1_Missense_Mutation_p.R523H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R581H|SEMA5B_uc010hro.1_Missense_Mutation_p.R523H NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 581 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGTGCTGCAACGTTGCTGCTT 0.622 NaN 0 0 0 0.788014 0 32 44 MRPL3 11222 broad.mit.edu 37 3 131220433 131220433 + Silent SNP T T C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:131220433T>C uc003eoh.2 - 2 383 c.219A>G c.(217-219)TTA>TTG p.L73L MRPL3_uc011blo.1_5'UTR|MRPL3_uc011blp.1_Silent_p.L100L NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 73 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 GTTTACTTGCTAATTGGGCTT 0.398 NaN 0 0 0 0.870114 0 96 184 WDR49 151790 broad.mit.edu 37 3 167254660 167254660 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:167254660G>A uc003fev.1 - 7 1202 c.896C>T c.(895-897)ACG>ATG p.T299M WDR49_uc003feu.1_Missense_Mutation_p.T124M|WDR49_uc011bpd.1_Missense_Mutation_p.T363M|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 299 WD 5. large_intestine(1)|ovary(1)|skin(1) 3 CAATTTACCCGTAACAAGAGT 0.373 NaN 0 0 0 0.520397 0 14 26 PDGFRA 5156 broad.mit.edu 37 4 54248502 54248502 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr4:54248502G>A uc003haa.2 + 4 414 c.228G>A c.(226-228)CCG>CCA p.P76P FIP1L1_uc003gzx.3_Silent_p.P61P|FIP1L1_uc011bzt.1_Silent_p.P76P|FIP1L1_uc003gzy.2_Silent_p.P76P|FIP1L1_uc011bzu.1_Silent_p.P61P|FIP1L1_uc003gzz.2_Silent_p.P61P|FIP1L1_uc003hab.2_Silent_p.P64P|FIP1L1_uc003hac.2_5'UTR NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TACCAAAACCGGTAACATAAG 0.348 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.361761 0 9 69 PDGFRA 5156 broad.mit.edu 37 4 54257217 54257217 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr4:54257217G>C uc003haa.2 + 8 733 c.547G>C c.(547-549)GAT>CAT p.D183H FIP1L1_uc003gzx.3_Missense_Mutation_p.D168H|FIP1L1_uc011bzt.1_Missense_Mutation_p.D183H|FIP1L1_uc003gzy.2_Missense_Mutation_p.D183H|FIP1L1_uc011bzu.1_Missense_Mutation_p.D168H|FIP1L1_uc003gzz.2_Missense_Mutation_p.D168H|FIP1L1_uc003hab.2_Missense_Mutation_p.D171H|FIP1L1_uc003hac.2_5'UTR NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha Error:Variant_position_missing_in_P16234_after_alignment cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTTTAATGAAGATACCTGGAA 0.303 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.184627 0 4 58 CXCL11 6373 broad.mit.edu 37 4 76956259 76956259 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr4:76956259C>G uc003hjm.2 - 3 295 c.202G>C c.(202-204)GAA>CAA p.E68Q ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron NM_005409 NP_005400 O14625 CXL11_HUMAN small inducible cytokine B11 precursor 68 cell-cell signaling|chemotaxis|inflammatory response|signal transduction extracellular space chemokine activity 0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCTTTATTTTCTTTCAGGGTA 0.333 NaN 0 0 0 0.435327 0 11 73 LRBA 987 broad.mit.edu 37 4 151357947 151357947 + Nonsense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr4:151357947G>A uc010ipj.2 - 46 7357 c.6883C>T c.(6883-6885)CAA>TAA p.Q2295* LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Nonsense_Mutation_p.Q185*|LRBA_uc003ilt.3_Nonsense_Mutation_p.Q943*|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q2284* NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2295 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTTGGAACTTGATCATCTTCC 0.393 NaN 0 0 0 0.435327 0 11 38 SLC9A3 6550 broad.mit.edu 37 5 485324 485324 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:485324G>A uc003jbe.2 - 4 810 c.698C>T c.(697-699)TCT>TTT p.S233F SLC9A3_uc011clx.1_Missense_Mutation_p.S233F NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 233 Extracellular (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCCACGAAAGATTCAAACAC 0.632 NaN 0 0 0 0.740014 0 26 74 SRD5A1 6715 broad.mit.edu 37 5 6656219 6656219 + Missense_Mutation SNP G G T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:6656219G>T uc003jdw.2 + 3 679 c.489G>T c.(487-489)TTG>TTT p.L163F SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.L116F NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 163 Helical; (Potential). androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) CGGGCATGTTGATAAACATCC 0.388 NaN 1 0 1.10513e-12 0.624587 1.15462e-12 16 30 CTNND2 1501 broad.mit.edu 37 5 10981933 10981933 + Silent SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:10981933C>T uc003jfa.1 - 21 3514 c.3369G>A c.(3367-3369)TTG>TTA p.L1123L CTNND2_uc010itt.2_Silent_p.L1032L|CTNND2_uc011cmy.1_Silent_p.L786L|CTNND2_uc011cmz.1_Silent_p.L690L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L715L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1123 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AATTCCTATACAAAGTTGAAA 0.343 NaN 0 0 0 0.435327 0 10 125 ERBB2IP 55914 broad.mit.edu 37 5 65310528 65310528 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:65310528G>A uc003juk.1 + 7 816 c.508G>A c.(508-510)GAA>AAA p.E170K ERBB2IP_uc003juh.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jui.1_Missense_Mutation_p.E170K|ERBB2IP_uc003juj.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqz.1_Missense_Mutation_p.E170K|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jul.1_Missense_Mutation_p.E170K NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 170 LRR 7. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGAGCTTAGAGAAAACCAGTT 0.184 NaN 0 0 0 0.307466 0 7 24 DMXL1 1657 broad.mit.edu 37 5 118485340 118485340 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:118485340C>T uc003ksd.2 + 18 3999 c.3818C>T c.(3817-3819)TCT>TTT p.S1273F DMXL1_uc010jcl.1_Missense_Mutation_p.S1273F NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1273 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AACTCCAGTTCTGGGTTACAT 0.403 NaN 0 0 0 0.27861 0 7 69 PCDHA7 56141 broad.mit.edu 37 5 140214244 140214244 + Silent SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:140214244C>G uc003lhq.2 + 1 276 c.276C>G c.(274-276)CGC>CGG p.R92R 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_uc011dac.1_Silent_p.R92R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 92 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATCGACCGCGAGGAGCTGT 0.587 NaN 0 0 0 0.870114 0 83 570 PCDHA9 9752 broad.mit.edu 37 5 140228356 140228356 + Silent SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:140228356C>G uc003lhu.2 + 1 1000 c.276C>G c.(274-276)CGC>CGG p.R92R 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_Silent_p.R92R NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 92 Cadherin 1.|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) GGATCGACCGCGAGGAGCTGT 0.587 NaN 0 0 0 0.870114 0 46 19 PCDHB11 56125 broad.mit.edu 37 5 140580672 140580672 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:140580672C>G uc003liy.2 + 1 1325 c.1325C>G c.(1324-1326)TCT>TGT p.S442C PCDHB11_uc011daj.1_Missense_Mutation_p.S77C NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 442 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGTTGGTCTCTGACGTCAAT 0.572 NaN 0 0 0 0.870114 0 40 228 THG1L 54974 broad.mit.edu 37 5 157159883 157159883 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr5:157159883G>A uc003lxd.2 + 2 325 c.199G>A c.(199-201)GAG>AAG p.E67K THG1L_uc011ddu.1_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 67 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGGTTTGCTGAGAAGCACAA 0.473 NaN 0 0 0 0.27861 0 6 81 HIST1H2BD 3017 broad.mit.edu 37 6 26158562 26158562 + Missense_Mutation SNP C C G rs141600148 byFrequency TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:26158562C>G uc003ngr.2 + 1 214 c.165C>G c.(163-165)ATC>ATG p.I55M HIST1H2BD_uc003ngs.2_Missense_Mutation_p.I55M NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 55 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 ACACCGGCATCTCTTCCAAGG 0.562 NaN 0 0 0 0.729181 0 30 245 MDC1 9656 broad.mit.edu 37 6 30672587 30672587 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:30672587G>C uc003nrg.3 - 10 4813 c.4373C>G c.(4372-4374)TCC>TGC p.S1458C MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1065C NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1458 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGTGGAGGTGGAAGGCTGGAG 0.567 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.870114 0 41 149 IP6K3 117283 broad.mit.edu 37 6 33694647 33694647 + Silent SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:33694647G>C uc010jvf.2 - 5 986 c.450C>G c.(448-450)CTC>CTG p.L150L IP6K3_uc003ofb.2_Silent_p.L150L NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 150 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 CTGGAGTGTTGAGGTGGGGCT 0.647 NaN 0 0 0 0.307466 0 6 129 DAAM2 23500 broad.mit.edu 37 6 39869784 39869784 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:39869784G>A uc003oow.2 + 25 3334 c.3178G>A c.(3178-3180)GAG>AAG p.E1060K DAAM2_uc003oox.2_Missense_Mutation_p.E1059K NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 1060 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) AGTTACCCGGGAGCGGGCAAT 0.612 NaN 0 0 0 0.435327 0 12 32 ABCC10 89845 broad.mit.edu 37 6 43400565 43400565 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:43400565C>T uc003ouy.1 + 3 1062 c.847C>T c.(847-849)CGG>TGG p.R283W ABCC10_uc003ouz.1_Missense_Mutation_p.R240W|ABCC10_uc010jyo.1_5'Flank NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 283 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCTTTGGACGGTGCTATCT 0.627 NaN 0 0 0 0.184627 0 4 50 PLA2G7 7941 broad.mit.edu 37 6 46684211 46684211 + Missense_Mutation SNP G G T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:46684211G>T uc010jzf.2 - 4 555 c.286C>A c.(286-288)CTT>ATT p.L96I PLA2G7_uc010jzg.1_Missense_Mutation_p.L96I|PLA2G7_uc011dwd.1_Missense_Mutation_p.L51I|PLA2G7_uc011dwe.1_Intron NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 96 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) GGGATCCAAAGGGTGTCAAGG 0.373 NaN 1 0 2.74318e-10 0.335167 2.84478e-10 7 73 C6orf211 79624 broad.mit.edu 37 6 151779478 151779478 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:151779478G>A uc003qok.1 + 3 422 c.163G>A c.(163-165)GAA>AAA p.E55K C6orf211_uc011ees.1_5'UTR NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 55 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) CGTGGAAGCTGAAAAGAAAGC 0.348 NaN 0 0 0 0.575678 0 16 155 WTAP 9589 broad.mit.edu 37 6 160174530 160174530 + Missense_Mutation SNP T T C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:160174530T>C uc003qsl.2 + 7 713 c.491T>C c.(490-492)CTT>CCT p.L164P WTAP_uc003qso.2_Missense_Mutation_p.L45P NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 164 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TGTCGAATGCTTATCCAGGAG 0.438 NaN 0 0 0 0.639603 0 23 45 EVX1 2128 broad.mit.edu 37 7 27285709 27285709 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr7:27285709G>A uc003szd.1 + 3 1375 c.889G>A c.(889-891)GCC>ACC p.A297T EVX1_uc011jzn.1_Missense_Mutation_p.A115T|EVX1_uc010kuy.1_3'UTR NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 297 Ala-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CTCCGCCGCCGCCTCGCCCTT 0.776 NaN 0 0 0 0.184627 0 4 15 CASD1 64921 broad.mit.edu 37 7 94163033 94163033 + Nonsense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr7:94163033C>T uc003uni.3 + 7 774 c.547C>T c.(547-549)CAA>TAA p.Q183* CASD1_uc003unh.2_Nonsense_Mutation_p.Q183*|CASD1_uc003unj.3_Nonsense_Mutation_p.Q183* NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 183 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AGCGCTTTCTCAATATAAAAT 0.318 NaN 0 0 0 0.520397 0 14 55 RELN 5649 broad.mit.edu 37 7 103185777 103185777 + Missense_Mutation SNP C C G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr7:103185777C>G uc003vca.2 - 42 6477 c.6317G>C c.(6316-6318)AGA>ACA p.R2106T RELN_uc010liz.2_Missense_Mutation_p.R2106T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2106 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGGTACCATCTGAAACGGAC 0.453 NaN 0 0 0 0.479597 0 12 42 ZNF786 136051 broad.mit.edu 37 7 148768420 148768420 + Nonsense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr7:148768420G>A uc003wfh.2 - 4 1581 c.1444C>T c.(1444-1446)CAG>TAG p.Q482* ZNF786_uc011kuk.1_Nonsense_Mutation_p.Q445*|ZNF786_uc003wfi.2_Nonsense_Mutation_p.Q396* NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 482 C2H2-type 7; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCTGGGCACTGAAAGGGCTTC 0.652 NaN 0 0 0 0.150653 0 3 21 SLC7A2 6542 broad.mit.edu 37 8 17422584 17422584 + Nonsense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr8:17422584C>T uc011kyc.1 + 12 2075 c.1906C>T c.(1906-1908)CAA>TAA p.Q636* SLC7A2_uc011kyd.1_Nonsense_Mutation_p.Q675*|SLC7A2_uc011kye.1_Nonsense_Mutation_p.Q676*|SLC7A2_uc011kyf.1_Nonsense_Mutation_p.Q636* NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 636 Cytoplasmic (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) ATCTGCCATTCAAGCAAATGA 0.428 NaN 0 0 0 0.307466 0 7 28 TRIM35 23087 broad.mit.edu 37 8 27145409 27145409 + Silent SNP G G A rs143436239 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr8:27145409G>A uc003xfl.1 - 6 1222 c.1140C>T c.(1138-1140)GGC>GGT p.G380G TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 380 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) GGCCCTCAGCGCCCGAGTCCT 0.692 NaN 0 0 0 0.500413 0 14 27 KCNU1 157855 broad.mit.edu 37 8 36766906 36766906 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr8:36766906G>A uc010lvw.2 + 21 2271 c.2184G>A c.(2182-2184)CCG>CCA p.P728P KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 728 Segment S9.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCAGCCCCGATGGGGCTTC 0.468 NaN 0 0 0 0.435327 0 12 286 TOPORS 10210 broad.mit.edu 37 9 32543241 32543241 + Missense_Mutation SNP A A C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr9:32543241A>C uc003zrb.2 - 3 1449 c.1282T>G c.(1282-1284)TCA>GCA p.S428A TOPORS_uc003zrc.2_Missense_Mutation_p.S361A NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 428 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ACCTGCTCTGAGCTTGAGTAA 0.453 NaN 0 0 0 0.870114 0 77 27 COL27A1 85301 broad.mit.edu 37 9 117002529 117002529 + Silent SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr9:117002529C>T uc011lxl.1 + 20 2757 c.2757C>T c.(2755-2757)GGC>GGT p.G919G COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 919 Collagen-like 5.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GCCCCCCTGGCGACAATGGCC 0.502 NaN 0 0 0 0.870114 0 65 24 FANCB 2187 broad.mit.edu 37 X 14882865 14882865 + Silent SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chrX:14882865G>A uc004cwg.1 - 3 1036 c.768C>T c.(766-768)CTC>CTT p.L256L FANCB_uc004cwh.1_Silent_p.L256L NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 256 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TAAGGGCAATGAGAGATATTC 0.373 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.150653 0 4 50 NXF3 56000 broad.mit.edu 37 X 102334549 102334549 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chrX:102334549G>C uc004eju.2 - 14 1253 c.1182C>G c.(1180-1182)TTC>TTG p.F394L NXF3_uc010noi.1_Missense_Mutation_p.F244L NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 394 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 TGCTATCCTTGAAGAACTTGC 0.507 NaN 0 0 0 0.624587 0 17 89 GUCY2F 2986 broad.mit.edu 37 X 108628509 108628509 + Missense_Mutation SNP G G A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chrX:108628509G>A uc004eod.3 - 16 3235 c.2959C>T c.(2959-2961)CCG>TCG p.P987S GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 987 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GCAACAACCGGCCCTATAGAG 0.473 NaN 0 0 0 0.870114 0 51 18 RPL10 6134 broad.mit.edu 37 X 153627864 153627864 + Missense_Mutation SNP A A G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chrX:153627864A>G uc004fkm.2 + 4 307 c.119A>G c.(118-120)AAG>AGG p.K40R uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.K40R|RPL10_uc004fkn.1_Missense_Mutation_p.K40R|RPL10_uc004fkp.1_Missense_Mutation_p.K40R|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 40 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCGGAAAAAGGCAAAAGTG 0.522 NaN OREG0019957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.217242 0 3 116 ARID1A 8289 broad.mit.edu 37 1 27057936 27057937 + Frame_Shift_Ins INS - - C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr1:27057936_27057937insC uc001bmv.1 + 3 2017_2018 c.1644_1645insC c.(1642-1647)CAGCCCfs p.Q548fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q165fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 548_549 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y551fs*72(1)|p.Q548*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCAGAGCCAGCCCCCCTACTC 0.649 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 155 276 --- --- RUFY2 55680 broad.mit.edu 37 10 70166569 70166570 + Frame_Shift_Ins INS - - A TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:70166569_70166570insA uc001job.2 - 1 377_378 c.50_51insT c.(49-51)TTGfs p.L17fs RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron|RUFY2_uc009xpv.1_Intron|RUFY2_uc001joe.1_Intron NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a Error:Variant_position_missing_in_Q8WXA3_after_alignment nucleus metal ion binding ovary(1) 1 GCACCCAGGCCAAAACCTGAGA 0.708 NaN NaN NaN NaN NaN NaN 31 54 --- --- CCAR1 55749 broad.mit.edu 37 10 70531073 70531074 + Frame_Shift_Ins INS - - A rs3205757 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr10:70531073_70531074insA uc001joo.2 + 18 2528_2529 c.2409_2410insA c.(2407-2412)GATAAAfs p.D803fs CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Ins_p.D608fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.D777fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.D749fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 803_804 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 aagaaaaggataaaaaaagcaa 0.134 NaN NaN NaN NaN NaN NaN 9 26 --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr16:29998498_29998500delCTG uc002dva.1 + 16 3688_3690 c.2905_2907delCTG c.(2905-2907)CTGdel p.L974del uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 974 Leu-rich.|Helical; (Potential). actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCTGCCCCTCCTGCTGCTGCTGC 0.709 NaN NaN NaN NaN NaN NaN 7 110 --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr18:77623691_77623692insGGC uc010xfl.1 + 1 24_25 c.24_25insGGC c.(22-27)insGGC p.13_14insG NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 13_14 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.614 NaN NaN NaN NaN NaN NaN 2 4 --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr3:109049606delT uc003dxq.3 - 5 499 c.444delA c.(442-444)AAAfs p.K148fs DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding upper_aerodigestive_tract(1) 1 CCACCTTTAATTTTTTTTGCA 0.413 NaN NaN NaN NaN NaN NaN 7 163 --- --- RREB1 6239 broad.mit.edu 37 6 7229719 7229725 + Frame_Shift_Del DEL TCGGCCA TCGGCCA - rs147038452 TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:7229719_7229725delTCGGCCA uc003mxc.2 + 10 1777_1783 c.1387_1393delTCGGCCA c.(1387-1395)TCGGCCATCfs p.S463fs RREB1_uc003mxb.2_Frame_Shift_Del_p.S463fs|RREB1_uc010jnx.2_Frame_Shift_Del_p.S463fs NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 463_465 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTCTGGCGAGTCGGCCATCGAGCTGGC 0.599 NaN NaN NaN NaN NaN NaN 103 50 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652057 36652058 + Frame_Shift_Ins INS - - G TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:36652057_36652058insG uc003omm.3 + 2 301_302 c.179_180insG c.(178-180)GAGfs p.E60fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E94fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E60fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E60fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 60 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 ACACCACTGGAGGGTGACTTCG 0.668 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 34 29 --- --- NCR2 9436 broad.mit.edu 37 6 41303645 41303647 + In_Frame_Del DEL CTG CTG - TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8 685111bf-0f7f-4b95-acdd-5704a8a553c5 g.chr6:41303645_41303647delCTG uc003oqh.2 + 1 118_120 c.31_33delCTG c.(31-33)CTGdel p.L15del NCR2_uc003oqi.2_In_Frame_Del_p.L15del|NCR2_uc003oqj.2_In_Frame_Del_p.L15del NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 15 cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCACTGCTACTGCTGCTGCTGC 0.635 NaN NaN NaN NaN NaN NaN 4 5 --- ---