Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SCNN1D 6339 broad.mit.edu 37 1 1226700 1226700 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:1226700C>T uc001adu.1 + 17 2251 c.1627C>T c.(1627-1629)CTC>TTC p.L543F SCNN1D_uc001adt.1_Missense_Mutation_p.L707F|SCNN1D_uc001adw.2_Missense_Mutation_p.L609F|SCNN1D_uc001adx.2_Missense_Mutation_p.L332F|SCNN1D_uc001adv.2_Missense_Mutation_p.L543F NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CGTCCTCTCCCTCCTGGAGCT 0.721 NaN 0 0 0 0.014758 0 5 21 ARID1A 8289 broad.mit.edu 37 1 27106539 27106539 + Nonsense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:27106539G>A uc001bmv.1 + 20 6523 c.6150G>A c.(6148-6150)TGG>TGA p.W2050* ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1833*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W896*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W378*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W292* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2050 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGTGGTGGTGGGACTGCTTGG 0.552 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.139131 0 54 49 SNIP1 79753 broad.mit.edu 37 1 38018319 38018319 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:38018319G>A uc001cbi.2 - 2 327 c.254C>T c.(253-255)TCA>TTA p.S85L SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 85 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) TCTTCTCCCTGAGGCCTTGTT 0.458 NaN 0 0 0 0.139131 0 82 162 FPGT 8790 broad.mit.edu 37 1 74670509 74670509 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:74670509G>A uc001dgb.1 + 4 815 c.778G>A c.(778-780)GAT>AAT p.D260N TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 260 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 TGACATTGCCGATCTTAAATT 0.358 NaN 0 0 0 0.116897 0 29 60 F5 2153 broad.mit.edu 37 1 169487767 169487767 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:169487767C>G uc001ggg.1 - 23 6373 c.6228G>C c.(6226-6228)AAG>AAC p.K2076N NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2076 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTTTTCTATCTTTCCATTTT 0.448 NaN 0 0 0 0.021553 0 5 40 IPO9 55705 broad.mit.edu 37 1 201828120 201828120 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:201828120C>T uc001gwz.2 + 13 1516 c.1466C>T c.(1465-1467)TCA>TTA p.S489L NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 489 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 CTCAACCTCTCAGGTATGTTT 0.318 NaN 0 0 0 0.105934 0 14 39 TP53BP2 7159 broad.mit.edu 37 1 223984139 223984139 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr1:223984139C>T uc010pvb.1 - 13 2394 c.2102G>A c.(2101-2103)CGG>CAG p.R701Q TP53BP2_uc001hod.2_Missense_Mutation_p.R572Q|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.R340Q NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 695 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GCTGAGTGGCCGAGGAATTCT 0.448 NaN 0 0 0 0.139131 0 91 102 CYP26C1 340665 broad.mit.edu 37 10 94821038 94821038 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:94821038G>A uc010qns.1 + 1 18 c.18G>A c.(16-18)CTG>CTA p.L6L CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 6 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) CTTGGGGGCTGAGCTGCCTGT 0.711 NaN 0 0 0 0.021553 0 6 4 C10orf12 26148 broad.mit.edu 37 10 98743230 98743230 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:98743230G>A uc001kmv.2 + 1 2190 c.2083G>A c.(2083-2085)GAG>AAG p.E695K NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 695 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAAGATGATGAGAGTGATGC 0.517 NaN 0 0 0 0.105934 0 14 55 ABCC2 1244 broad.mit.edu 37 10 101571351 101571351 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:101571351A>T uc001kqf.2 + 15 2098 c.1959A>T c.(1957-1959)ACA>ACT p.T653T NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 653 Cytoplasmic (By similarity).|ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CGGAAGCCACAGTCCGAGAGT 0.453 NaN 0 0 0 0.086207 0 36 37 ANO5 203859 broad.mit.edu 37 11 22249087 22249087 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:22249087C>T uc001mqi.2 + 7 920 c.603C>T c.(601-603)ATC>ATT p.I201I ANO5_uc001mqj.2_Silent_p.I200I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 201 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TCTTCCTCATCGAAGATCAGG 0.453 NaN 0 0 0 0.076483 0 25 61 FIBIN 387758 broad.mit.edu 37 11 27016101 27016101 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:27016101A>C uc001mrd.2 + 1 474 c.28A>C c.(28-30)AGT>CGT p.S10R NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 10 extracellular region|Golgi apparatus 0 CTTCTGCATGAGTTTCTTCTG 0.527 NaN 0 0 0 0.09836 0 36 25 OR5M8 219484 broad.mit.edu 37 11 56258428 56258428 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:56258428C>A uc001nix.1 - 1 419 c.419G>T c.(418-420)TGC>TTC p.C140F NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GAGGAAGGAGCACACACTCTT 0.522 NaN 1 0 1.17739e-12 0.108266 1.29397e-12 29 44 CTSW 1521 broad.mit.edu 37 11 65649734 65649734 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:65649734G>A uc001ogc.1 + 4 417 c.375G>A c.(373-375)GAG>GAA p.E125E CTSW_uc001ogb.1_Silent_p.E125E NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 125 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) AAGAGCCAGAGGAGTCAGTAC 0.582 NaN 0 0 0 0.069288 0 21 120 FAT3 120114 broad.mit.edu 37 11 92623737 92623737 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:92623737G>A uc001pdj.3 + 25 13149 c.13132G>A c.(13132-13134)GAT>AAT p.D4378N FAT3_uc001pdi.3_Missense_Mutation_p.D850N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4410 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAGAACCAGGATGGAGGGTC 0.547 NaN TCGA Ovarian(4;0.039) 0 0 0 0.069234 0 11 24 BUD13 84811 broad.mit.edu 37 11 116619253 116619253 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:116619253G>A uc001ppn.2 - 10 1839 c.1805C>T c.(1804-1806)GCC>GTC p.A602V BUD13_uc001ppo.2_Missense_Mutation_p.A468V NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 602 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTTCTTGCTGGCAAGCCTGGC 0.478 NaN 0 0 0 0.0918 0 24 34 APOC3 345 broad.mit.edu 37 11 116701559 116701559 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr11:116701559C>T uc001ppt.1 + 3 172 c.126C>T c.(124-126)ACC>ACT p.T42T NM_000040 NP_000031 P02656 APOC3_HUMAN apolipoprotein C-III precursor 42 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCACCAAGACCGCCAAGGATG 0.647 NaN 0 0 0 0.021553 0 6 17 KIF21A 55605 broad.mit.edu 37 12 39760203 39760203 + Silent SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:39760203A>G uc001rly.2 - 6 998 c.852T>C c.(850-852)ACT>ACC p.T284T KIF21A_uc001rlx.2_Silent_p.T284T|KIF21A_uc001rlz.2_Silent_p.T284T|KIF21A_uc010skl.1_Silent_p.T284T|KIF21A_uc001rma.1_Silent_p.T292T NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 284 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CTGTAGCTCCAGTACGCTTCA 0.393 NaN 0 0 0 0.099896 0 25 53 GDF11 10220 broad.mit.edu 37 12 56143622 56143622 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:56143622G>A uc001shq.2 + 3 1217 c.1180G>A c.(1180-1182)GGC>AGC p.G394S GDF11_uc010spv.1_Missense_Mutation_p.G394S NM_005811 NP_005802 O95390 GDF11_HUMAN growth differentiation factor 11 precursor 394 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity kidney(1) 1 GATTATCTACGGCAAGATCCC 0.572 NaN 0 0 0 0.183431 0 34 133 PTPRB 5787 broad.mit.edu 37 12 70953310 70953310 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:70953310G>T uc001swb.3 - 16 3903 c.3873C>A c.(3871-3873)AAC>AAA p.N1291K PTPRB_uc010sto.1_Missense_Mutation_p.N1201K|PTPRB_uc010stp.1_Missense_Mutation_p.N1201K|PTPRB_uc001swc.3_Missense_Mutation_p.N1509K|PTPRB_uc001swa.3_Missense_Mutation_p.N1421K|PTPRB_uc001swd.3_Missense_Mutation_p.N1508K|PTPRB_uc009zrr.1_Missense_Mutation_p.N1388K NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1291 Fibronectin type-III 15.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCAAAGTCGTTGTAGTCTG 0.493 NaN 1 0 5.00936e-31 0.139131 5.61655e-31 66 196 C12orf51 283450 broad.mit.edu 37 12 112670808 112670808 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:112670808C>G uc009zwc.2 - 31 4749 c.4731G>C c.(4729-4731)AAG>AAC p.K1577N NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 ATGAGGTTACCTTGGTCATGT 0.403 NaN 0 0 0 0.02938 0 7 6 SLC8A3 6547 broad.mit.edu 37 14 70515701 70515701 + Silent SNP G G A rs149109491 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr14:70515701G>A uc001xly.2 - 7 2944 c.2190C>T c.(2188-2190)TAC>TAT p.Y730Y SLC8A3_uc001xlu.2_Silent_p.Y87Y|SLC8A3_uc001xlv.2_Silent_p.Y101Y|SLC8A3_uc001xlw.2_Silent_p.Y727Y|SLC8A3_uc001xlx.2_Silent_p.Y728Y|SLC8A3_uc001xlz.2_Silent_p.Y724Y|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.Y87Y NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 730 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGTGCATGACGTAGTCAAAGC 0.572 NaN 0 0 0 0.108266 0 28 43 DICER1 23405 broad.mit.edu 37 14 95579563 95579563 + Splice_Site SNP T T A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr14:95579563T>A uc001ydw.2 - 13 2090 c.1908_splice c.e13-1 p.R636_splice DICER1_uc001ydv.2_Splice_Site_p.R626_splice|DICER1_uc001ydx.2_Splice_Site_p.R636_splice NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCACAGTATCTGTGAAGAAAA 0.378 NaN Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 0 0 0 0.069288 0 23 55 SEMA6D 80031 broad.mit.edu 37 15 48052549 48052549 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr15:48052549C>T uc010bek.2 + 3 518 c.158C>T c.(157-159)TCG>TTG p.S53L SEMA6D_uc001zvw.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvx.1_Missense_Mutation_p.S53L|SEMA6D_uc001zvy.2_Missense_Mutation_p.S53L|SEMA6D_uc001zvz.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwa.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwb.2_Missense_Mutation_p.S53L|SEMA6D_uc001zwc.2_Missense_Mutation_p.S53L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 53 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GGCAATGAATCGCAGCACAGG 0.408 NaN 0 0 0 0.047766 0 9 50 CA12 771 broad.mit.edu 37 15 63637770 63637770 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr15:63637770C>T uc002amc.2 - 4 491 c.335G>A c.(334-336)CGC>CAC p.R112H CA12_uc002amd.2_Missense_Mutation_p.R112H|CA12_uc002ame.2_Missense_Mutation_p.R52H NM_001218 NP_001209 O43570 CAH12_HUMAN carbonic anhydrase XII isoform 1 precursor 112 Extracellular (Potential). one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding ovary(1) 1 Acetazolamide(DB00819) GGCACTGTAGCGAGACTGGAG 0.657 NaN 0 0 0 0.115264 0 3 18 BTBD12 84464 broad.mit.edu 37 16 3633236 3633236 + Missense_Mutation SNP T T C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr16:3633236T>C uc002cvp.2 - 14 5642 c.5015A>G c.(5014-5016)CAT>CGT p.H1672R NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1672 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GATGCTTTCATGATGCTTCCT 0.627 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 0 0 0 0.139131 0 54 57 SLC6A2 6530 broad.mit.edu 37 16 55719143 55719143 + Missense_Mutation SNP G G A rs1805066 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr16:55719143G>A uc002eif.2 + 5 844 c.733G>A c.(733-735)GTC>ATC p.V245I SLC6A2_uc010ccd.2_Missense_Mutation_p.V245I|SLC6A2_uc002eig.2_Missense_Mutation_p.V245I|SLC6A2_uc002eih.2_Missense_Mutation_p.V245I|SLC6A2_uc002eii.2_Missense_Mutation_p.V140I|SLC6A2_uc002eij.2_Missense_Mutation_p.V4I NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 245 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GATGGTCGTCGTCATCGTCTT 0.527 NaN 0 0 0 0.055883 0 19 64 CHD3 1107 broad.mit.edu 37 17 7797579 7797579 + Missense_Mutation SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr17:7797579G>T uc002gje.2 + 7 1221 c.1071G>T c.(1069-1071)AAG>AAT p.K357N CHD3_uc002gjd.2_Missense_Mutation_p.K416N|CHD3_uc002gjf.2_Missense_Mutation_p.K357N|CHD3_uc002gjg.1_Missense_Mutation_p.K185N NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 357 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGAAGAAGAAGAAGGGTAAGG 0.488 NaN 1 0 1.58986e-06 0.069234 1.66486e-06 11 45 PYCR1 5831 broad.mit.edu 37 17 79892987 79892987 + Missense_Mutation SNP G G A rs121918376 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr17:79892987G>A uc002kcr.1 - 4 633 c.355C>T c.(355-357)CGC>TGC p.R119C PYCR1_uc002kcq.1_Missense_Mutation_p.R119C|PYCR1_uc002kcp.2_Missense_Mutation_p.R119C|PYCR1_uc002kcs.1_Missense_Mutation_p.R119C|PYCR1_uc010wvd.1_Missense_Mutation_p.R146C|PYCR1_uc002kct.1_Missense_Mutation_p.R119C|PYCR1_uc002kcu.1_Missense_Mutation_p.R119C|PYCR1_uc010wve.1_Missense_Mutation_p.R71C NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 119 R -> H (in ARCL2B).|R -> G (in ARCL2B). cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GTCATGCAGCGGATGACCCTG 0.647 NaN 0 0 0 0.043863 0 18 24 MUC16 94025 broad.mit.edu 37 19 9063763 9063763 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:9063763G>A uc002mkp.2 - 3 23887 c.23683C>T c.(23683-23685)CCT>TCT p.P7895S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7897 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCATGACAGGGGATGTAGAG 0.498 NaN 0 0 0 0.092188 0 40 70 DOCK6 57572 broad.mit.edu 37 19 11325227 11325227 + Splice_Site SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:11325227A>G uc002mqs.3 - 33 4244 c.4203_splice c.e33+1 p.Q1401_splice DOCK6_uc010xlq.1_Splice_Site_p.Q740_splice NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATCAAGCCCTACCTGCACGAT 0.557 NaN 0 0 0 0.076483 0 24 27 ILVBL 10994 broad.mit.edu 37 19 15226826 15226826 + Missense_Mutation SNP G G A rs141415835 by1000genomes TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:15226826G>A uc002nam.2 - 13 1649 c.1528C>T c.(1528-1530)CGG>TGG p.R510W ILVBL_uc010xof.1_Missense_Mutation_p.R151W|ILVBL_uc010dzw.2_Missense_Mutation_p.R403W NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 510 Thiamine pyrophosphate binding (By similarity). integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 GCATCTGGCCGGCACAGCTTG 0.597 NaN 0 0 0 0.150653 0 4 44 CADM4 199731 broad.mit.edu 37 19 44127538 44127538 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:44127538C>T uc002oxc.1 - 9 1160 c.1111G>A c.(1111-1113)GAA>AAA p.E371K NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 371 Cytoplasmic (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) AGGAAGGCTTCTCTTGCTTCT 0.592 NaN 0 0 0 0.131918 0 42 128 SYMPK 8189 broad.mit.edu 37 19 46341740 46341740 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:46341740C>T uc002pdn.2 - 10 1466 c.1221G>A c.(1219-1221)ACG>ACA p.T407T SYMPK_uc002pdo.1_Silent_p.T407T|SYMPK_uc002pdp.1_Silent_p.T407T|SYMPK_uc002pdq.1_Silent_p.T407T NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 407 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CATTATCAGGCGTCAGCAGAG 0.602 NaN 0 0 0 0.047766 0 9 22 PRKD2 25865 broad.mit.edu 37 19 47197163 47197163 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:47197163G>A uc002pfh.2 - 11 1887 c.1545C>T c.(1543-1545)GAC>GAT p.D515D PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_Silent_p.D35D|PRKD2_uc002pff.2_Silent_p.D35D|PRKD2_uc002pfg.2_Silent_p.D358D|PRKD2_uc002pfi.2_Silent_p.D515D|PRKD2_uc002pfj.2_Silent_p.D515D|PRKD2_uc010xye.1_Silent_p.D515D|PRKD2_uc002pfk.2_Silent_p.D358D NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 515 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CGCTGGGTGCGTCCTGAAGGA 0.687 NaN 0 0 0 0.049695 0 19 57 KLK12 43849 broad.mit.edu 37 19 51535178 51535178 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr19:51535178G>T uc002pvg.1 - 3 531 c.411C>A c.(409-411)GGC>GGA p.G137G KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Silent_p.G137G|KLK12_uc002pvi.1_Silent_p.G137G|KLK12_uc002pvj.1_Intron NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 137 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GGCACTCGGTGCCAGCGGTTG 0.677 NaN 1 0 5.60225e-13 0.144211 6.2185e-13 32 87 TPO 7173 broad.mit.edu 37 2 1544451 1544451 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:1544451G>A uc002qww.2 + 16 2795 c.2704G>A c.(2704-2706)GTA>ATA p.V902I TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.V845I|TPO_uc002qwr.2_Missense_Mutation_p.V902I|TPO_uc002qwx.2_Missense_Mutation_p.V845I|TPO_uc010yio.1_Missense_Mutation_p.V729I|TPO_uc010yip.1_Missense_Mutation_p.V858I|TPO_uc002qwy.1_Missense_Mutation_p.V198I|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 902 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCACCAGGCCGTAGGGACCTC 0.637 NaN 0 0 0 0.108266 0 27 73 SNRPG 6637 broad.mit.edu 37 2 70515288 70515288 + Nonsense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70515288A>T uc002sgp.2 - 3 180 c.92T>A c.(91-93)TTG>TAG p.L31* SNRPG_uc002sgo.2_RNA NM_003096 NP_003087 P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 31 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding 0 AAATCCCCGCAATATTCCTTG 0.358 NaN 0 0 0 0.021553 0 6 100 SNRPG 6637 broad.mit.edu 37 2 70515306 70515306 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70515306C>A uc002sgp.2 - 3 162 c.74G>T c.(73-75)AGA>ATA p.R25I SNRPG_uc002sgo.2_RNA NM_003096 NP_003087 P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 25 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding 0 TTGGACATGTCTGCCACCATT 0.363 NaN 1 0 0.000602214 0.014758 0.000613264 5 83 ADD2 119 broad.mit.edu 37 2 70890768 70890768 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:70890768G>A uc002sgz.2 - 16 2435 c.1970C>T c.(1969-1971)ACG>ATG p.T657M ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.T351M|ADD2_uc002sgx.2_3'UTR NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 657 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 TTCCTCTGCCGTCTGCTCCTC 0.572 NaN 0 0 0 0.146539 0 16 151 FER1L5 90342 broad.mit.edu 37 2 97370381 97370381 + Silent SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:97370381A>G uc010fia.2 + 52 6234 c.6234A>G c.(6232-6234)ACA>ACG p.T2078T FER1L5_uc002sws.3_Silent_p.T787T|FER1L5_uc002swt.3_Silent_p.T787T|FER1L5_uc010yus.1_Silent_p.T786T NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 2078 integral to membrane ovary(1) 1 CAGGACCCACAAATCACCTGA 0.527 NaN 0 0 0 0.09836 0 41 57 POU3F3 5455 broad.mit.edu 37 2 105473459 105473459 + Silent SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:105473459G>C uc010ywg.1 + 1 1491 c.1491G>C c.(1489-1491)ACG>ACC p.T497T NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 497 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 GGCTGCAGACGAGCGTTCAGT 0.473 NaN 0 0 0 0.150653 0 4 16 NCKAP5 344148 broad.mit.edu 37 2 133539920 133539920 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:133539920T>G uc002ttp.2 - 14 4838 c.4464A>C c.(4462-4464)CAA>CAC p.Q1488H NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1488 protein binding 0 TTGTTTGCACTTGGCCCTTTT 0.507 NaN 0 0 0 0.080935 0 11 108 ZRANB3 84083 broad.mit.edu 37 2 136107733 136107733 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:136107733C>T uc002tum.2 - 5 529 c.412G>A c.(412-414)GAT>AAT p.D138N ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Missense_Mutation_p.D138N|ZRANB3_uc002tun.1_Missense_Mutation_p.D78N NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 138 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) GTCTTTGCATCTGCGGTTAAG 0.373 NaN 0 0 0 0.02938 0 5 29 LRP1B 53353 broad.mit.edu 37 2 141079602 141079602 + Silent SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:141079602A>T uc002tvj.1 - 82 13542 c.12570T>A c.(12568-12570)TCT>TCA p.S4190S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4190 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGTGGCCCCAGAAGGATTTA 0.368 NaN TSP Lung(27;0.18) 0 0 0 0.139131 0 48 36 COL4A3 1285 broad.mit.edu 37 2 228104885 228104885 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr2:228104885C>T uc002vom.1 + 3 333 c.171C>T c.(169-171)CCC>CCT p.P57P COL4A3_uc002von.1_Silent_p.P57P|COL4A3_uc002voo.1_Silent_p.P57P|COL4A3_uc002vop.1_Silent_p.P57P|uc002voq.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 57 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGGACCCCCCGGTTCTCCTG 0.517 NaN 0 0 0 0.11911 0 14 2 CHGB 1114 broad.mit.edu 37 20 5904368 5904368 + Silent SNP C C T rs138422072 TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:5904368C>T uc002wmg.2 + 4 1884 c.1578C>T c.(1576-1578)TAC>TAT p.Y526Y CHGB_uc010zqz.1_Silent_p.Y209Y NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 526 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 ACCCATACTACGACCCTCTCC 0.438 NaN 0 0 0 0.021553 0 6 96 C20orf12 55184 broad.mit.edu 37 20 18371024 18371024 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:18371024T>G uc010zsa.1 - 18 2155 c.1946A>C c.(1945-1947)GAG>GCG p.E649A C20orf12_uc010zrz.1_Missense_Mutation_p.E168A|C20orf12_uc002wqp.3_Missense_Mutation_p.E340A|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E516A|C20orf12_uc002wqq.3_Missense_Mutation_p.E630A NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 457 ANK 1. intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) AACACTTACCTCATCCAGCAG 0.483 NaN 0 0 0 0.116897 0 26 91 TOP1 7150 broad.mit.edu 37 20 39728847 39728847 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr20:39728847G>A uc002xjl.2 + 12 1373 c.1127G>A c.(1126-1128)CGA>CAA p.R376Q uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 376 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTGAAGAGACGAATCATGCCC 0.507 NaN T NUP98 AML* 0 0 0 0.0918 0 24 27 IGSF5 150084 broad.mit.edu 37 21 41142905 41142905 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr21:41142905G>A uc002yyo.2 + 4 584 c.481G>A c.(481-483)GTT>ATT p.V161I NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 161 Ig-like V-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) ACCTTGTGAAGTTACTTGTCT 0.468 NaN 0 0 0 0.074837 0 34 46 FAM118A 55007 broad.mit.edu 37 22 45719182 45719182 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr22:45719182C>T uc003bfz.3 + 4 790 c.174C>T c.(172-174)GCC>GCT p.A58A FAM118A_uc003bga.3_Silent_p.A58A NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 58 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCATCGAGGCCGTCATCGAGG 0.642 NaN 0 0 0 0.014758 0 5 83 PLXNB2 23654 broad.mit.edu 37 22 50721182 50721182 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr22:50721182T>G uc003bkv.3 - 18 3051 c.2945A>C c.(2944-2946)AAC>ACC p.N982T PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 982 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGTACGGGGTTTTCGCGGTA 0.677 NaN 0 0 0 0.11911 0 7 16 GTPBP8 29083 broad.mit.edu 37 3 112715770 112715770 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr3:112715770G>C uc003dzn.2 + 4 645 c.598G>C c.(598-600)GTT>CTT p.V200L GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.V167L NM_014170 NP_054889 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 isoform 1 200 G. barrier septum formation GTP binding 0 AGTGGATAGCGTTGTTGGAAT 0.318 NaN 0 0 0 0.021553 0 6 64 ZIC1 7545 broad.mit.edu 37 3 147128234 147128234 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr3:147128234C>T uc003ewe.2 + 1 1054 c.335C>T c.(334-336)GCG>GTG p.A112V NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 112 Poly-Ala. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GACGCGGCGGCGGCAGCCAGC 0.701 NaN 0 0 0 0.038147 0 7 70 DGKQ 1609 broad.mit.edu 37 4 961427 961427 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:961427C>T uc003gbw.2 - 8 971 c.897G>A c.(895-897)ACG>ACA p.T299T DGKQ_uc010ibn.2_Silent_p.T299T NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 299 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGATCTTCAGCGTTTGCTTCC 0.667 NaN 0 0 0 0.132662 0 14 16 NSUN7 79730 broad.mit.edu 37 4 40752759 40752759 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:40752759G>A uc003gvj.3 + 2 544 c.49G>A c.(49-51)GAG>AAG p.E17K NSUN7_uc003gvh.2_Missense_Mutation_p.E17K|NSUN7_uc003gvi.3_Missense_Mutation_p.E17K NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 AGAAGATCCCGAGATCATCTC 0.552 NaN 0 0 0 0.069288 0 23 46 IGJ 3512 broad.mit.edu 37 4 71522981 71522981 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr4:71522981G>T uc003hfn.3 - 3 357 c.216C>A c.(214-216)ATC>ATA p.I72I IGJ_uc010ihz.2_Silent_p.I88I NM_144646 NP_653247 P01591 IGJ_HUMAN immunoglobulin J chain 72 immune response extracellular region antigen binding 0 Lung(101;0.235) TGGGATCAGAGATATTCTCCC 0.323 NaN 1 0 1.96292e-10 0.055883 2.13612e-10 18 70 PCDHA9 9752 broad.mit.edu 37 5 140229323 140229323 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:140229323C>T uc003lhu.2 + 1 1967 c.1243C>T c.(1243-1245)CGC>TGC p.R415C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R415C NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 415 Cadherin 4.|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) AGCTCTGGACCGCGAGAGTGT 0.642 NaN 0 0 0 0.163468 0 33 125 PCDHA9 9752 broad.mit.edu 37 5 140229587 140229587 + Missense_Mutation SNP T T G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:140229587T>G uc003lhu.2 + 1 2231 c.1507T>G c.(1507-1509)TCG>GCG p.S503A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S503A NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 503 Cadherin 5.|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) GGGCGAGCGCTCGCTGTCGAG 0.672 NaN 0 0 0 0.173368 0 30 167 PRR7 80758 broad.mit.edu 37 5 176882976 176882976 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:176882976C>T uc003mgu.1 + 4 1171 c.679C>T c.(679-681)CCA>TCA p.P227S PRR7_uc003mgv.1_Missense_Mutation_p.P227S|PRR7_uc003mgw.1_Missense_Mutation_p.P227S NM_030567 NP_085044 Q8TB68 PRR7_HUMAN proline rich 7 (synaptic) 227 Pro-rich.|Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane 0 all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGCCCTGCCCAGCCCTCTG 0.746 NaN 0 0 0 0.02938 0 7 5 ZNF354A 6940 broad.mit.edu 37 5 178139989 178139989 + Missense_Mutation SNP G G C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr5:178139989G>C uc003mjj.2 - 5 1088 c.890C>G c.(889-891)TCC>TGC p.S297C NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 297 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) ACATCTGTAGGATTTCTCCAC 0.378 NaN 0 0 0 0.076483 0 24 78 DSP 1832 broad.mit.edu 37 6 7580718 7580718 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr6:7580718A>C uc003mxp.1 + 23 4574 c.4295A>C c.(4294-4296)CAG>CCG p.Q1432P DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1432 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GACATCCAACAGCAAAAGGCC 0.488 NaN 0 0 0 0.049695 0 19 63 RIMS1 22999 broad.mit.edu 37 6 72889512 72889512 + Missense_Mutation SNP A A T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr6:72889512A>T uc003pga.2 + 5 783 c.706A>T c.(706-708)AGC>TGC p.S236C RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 236 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTCCTCCCAGCGCACCACC 0.587 NaN 0 0 0 0.104719 0 41 22 BBS9 27241 broad.mit.edu 37 7 33217147 33217147 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:33217147A>G uc003tdn.1 + 5 899 c.386A>G c.(385-387)CAT>CGT p.H129R BBS9_uc003tdo.1_Missense_Mutation_p.H129R|BBS9_uc003tdp.1_Missense_Mutation_p.H129R|BBS9_uc003tdq.1_Missense_Mutation_p.H129R|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.H129R|BBS9_uc011kao.1_Missense_Mutation_p.H7R NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 129 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ATGTATGAACATAATCTTCAG 0.343 NaN Bardet-Biedl_syndrome 0 0 0 0.139131 0 51 55 POU6F2 11281 broad.mit.edu 37 7 39472816 39472816 + Silent SNP G G T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:39472816G>T uc003thb.1 + 7 1209 c.1167G>T c.(1165-1167)GGG>GGT p.G389G NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 389 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CAGTCATTGGGAACCAGATCC 0.612 NaN 1 0 5.50884e-06 0.09319 5.71477e-06 12 76 ST7 7982 broad.mit.edu 37 7 116869933 116869933 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:116869933A>C uc011knn.1 + 14 1465 c.1460A>C c.(1459-1461)CAC>CCC p.H487P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TCCTCCACTCACCTCACCCGC 0.522 NaN 0 0 0 0.124865 0 26 55 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NaN 0 0 0 0.139131 0 18 50 SSPO 23145 broad.mit.edu 37 7 149508082 149508082 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr7:149508082G>A uc010lpk.2 + 67 9476 c.9476G>A c.(9475-9477)CGT>CAT p.R3159H NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3159 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGTGGTTCGTCCATGTGAA 0.607 NaN 0 0 0 0.080935 0 12 36 C8orf74 203076 broad.mit.edu 37 8 10555320 10555320 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:10555320C>T uc003wtd.1 + 3 482 c.453C>T c.(451-453)CTC>CTT p.L151L C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 151 0 COAD - Colon adenocarcinoma(149;0.0811) CCCATCCCCTCCCGCTGGCCG 0.652 NaN 0 0 0 0.183431 0 34 38 ZHX2 22882 broad.mit.edu 37 8 123965291 123965291 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:123965291C>T uc003ypk.1 + 3 2108 c.1541C>T c.(1540-1542)GCG>GTG p.A514V NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 514 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TTGGCCATCGCGGCCTCCCGA 0.537 NaN 0 0 0 0.163468 0 33 18 EPPK1 83481 broad.mit.edu 37 8 144940347 144940347 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr8:144940347C>T uc003zaa.1 - 2 15098 c.15085G>A c.(15085-15087)GTG>ATG p.V5029M NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5029 Plectin 64. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACGTCCACGGGCACGCGG 0.692 NaN 0 0 0 0.139131 0 49 731 TLE1 7088 broad.mit.edu 37 9 84300624 84300624 + Missense_Mutation SNP C C A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:84300624C>A uc004aly.2 - 4 642 c.201G>T c.(199-201)ATG>ATT p.M67I TLE1_uc004alz.2_Missense_Mutation_p.M67I|TLE1_uc011lsr.1_Missense_Mutation_p.M67I|TLE1_uc004ama.1_Missense_Mutation_p.M67I|TLE1_uc011lss.1_Missense_Mutation_p.M67I|TLE1_uc004amb.2_Missense_Mutation_p.M67I NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 67 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 ATCCATATGACATTTCATAAT 0.294 NaN 1 0 5.9392e-07 0.021553 6.27858e-07 5 11 HABP4 22927 broad.mit.edu 37 9 99250477 99250477 + Missense_Mutation SNP G G A rs141094261 byFrequency TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:99250477G>A uc010msg.2 + 7 1254 c.1106G>A c.(1105-1107)CGT>CAT p.R369H HABP4_uc010msh.2_Missense_Mutation_p.R264H NM_014282 NP_055097 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 369 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding ovary(1) 1 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) CGTCCTGGGCGTGGAGCCAGA 0.552 NaN 0 0 0 0.055883 0 22 33 SVEP1 79987 broad.mit.edu 37 9 113168736 113168736 + Silent SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:113168736G>A uc010mtz.2 - 38 9481 c.9144C>T c.(9142-9144)GCC>GCT p.A3048A SVEP1_uc010mty.2_Silent_p.A974A NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3048 Sushi 27. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACTGGCCATCGGCTTCACAGG 0.498 NaN 0 0 0 0.055883 0 20 50 PAPPA 5069 broad.mit.edu 37 9 119115032 119115032 + Missense_Mutation SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:119115032C>G uc004bjn.2 + 16 4393 c.4012C>G c.(4012-4014)CCA>GCA p.P1338A PAPPA_uc011lxq.1_Missense_Mutation_p.P713A NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1338 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGGTCCTTCCCAGAGGCCCT 0.602 NaN 0 0 0 0.0918 0 24 21 SNAPC4 6621 broad.mit.edu 37 9 139273307 139273307 + Missense_Mutation SNP G G A TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr9:139273307G>A uc004chh.2 - 21 2981 c.2972C>T c.(2971-2973)CCT>CTT p.P991L NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 991 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TGAGAAGACAGGAGCGAGGGG 0.667 NaN 0 0 0 0.02938 0 7 7 DMD 1756 broad.mit.edu 37 X 32486811 32486811 + Missense_Mutation SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:32486811A>G uc004dda.1 - 23 3210 c.2966T>C c.(2965-2967)CTG>CCG p.L989P DMD_uc004dcz.2_Missense_Mutation_p.L866P|DMD_uc004dcy.1_Missense_Mutation_p.L985P|DMD_uc004ddb.1_Missense_Mutation_p.L981P|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 989 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGCTCTTGCAGAGAACTTTG 0.328 NaN 0 0 0 0.105934 0 14 50 BMP15 9210 broad.mit.edu 37 X 50659529 50659529 + Silent SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:50659529C>T uc011mnw.1 + 2 1101 c.1101C>T c.(1099-1101)GTC>GTT p.V367V NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 367 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) CAATTAGTGTCCTTATGATTG 0.463 NaN 0 0 0 0.076483 0 25 97 RGAG4 340526 broad.mit.edu 37 X 71351227 71351227 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:71351227C>T uc010nlh.1 - 1 525 c.164G>A c.(163-165)CGC>CAC p.R55H NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 55 ovary(2)|skin(1) 3 Renal(35;0.156) TACTGGCCAGCGGATGTAGCT 0.587 NaN 0 0 0 0.055883 0 19 50 TBX22 50945 broad.mit.edu 37 X 79283540 79283540 + Missense_Mutation SNP C C T TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chrX:79283540C>T uc010nmg.1 + 8 1048 c.914C>T c.(913-915)ACT>ATT p.T305I TBX22_uc004edi.1_Missense_Mutation_p.T185I|TBX22_uc004edj.1_Missense_Mutation_p.T305I NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 305 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CCTTCTTTCACTCTCGATTTT 0.383 NaN 0 0 0 0.069234 0 11 15 RBM17 84991 broad.mit.edu 37 10 6139098 6139098 + Frame_Shift_Del DEL A A - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr10:6139098delA uc001ijb.2 + 2 296 c.70delA c.(70-72)AAAfs p.K24fs RBM17_uc010qav.1_Frame_Shift_Del_p.K24fs NM_032905 NP_116294 Q96I25 SPF45_HUMAN RNA binding motif protein 17 24 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding 0 CAAAAACTTCAAACTTCTGCA 0.478 NaN NaN NaN NaN NaN NaN 32 101 --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr12:5603608_5603609insC uc001qnl.3 + 1 311_312 c.228_229insC c.(226-231)GGGCCCfs p.G76fs NTF3_uc001qnk.3_Frame_Shift_Ins_p.G89fs NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 76_77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 AGCGGGGAGGGCCCGCCAAGTC 0.579 NaN NaN NaN NaN NaN NaN 37 87 --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dfb4032-2018-461a-b267-73b5e726dc42 5932e398-bfdc-4fe1-be15-7cd106121d8e g.chr22:41650469_41650471delTCC uc003azs.2 - 10 2571_2573 c.1101_1103delGGA c.(1099-1104)GAGGAA>GAA p.367_368EE>E RANGAP1_uc003azt.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.2_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_In_Frame_Del_p.312_313EE>E NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367_368 Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 ctcttctccttcctcctcctcct 0.266 NaN NaN NaN NaN NaN NaN 8 120 --- ---