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 ACAP3 116983 broad.mit.edu 37 1 1233261 1233261 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:1233261C>T uc001aeb.2 - 14 1143 c.1069G>A c.(1069-1071)GCT>ACT p.A357T ACAP3_uc001ady.2_Missense_Mutation_p.A87T|ACAP3_uc001aea.2_Missense_Mutation_p.A315T NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 357 PH. filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 GCCTGCACAGCCTGGACCCAG 0.687 NaN 0 0 0 0.007413 0 18 22 RER1 11079 broad.mit.edu 37 1 2327262 2327262 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:2327262C>T uc001aje.1 + 2 224 c.33C>T c.(31-33)GTC>GTT p.V11V RER1_uc001ajf.1_Silent_p.V11V NM_007033 NP_008964 O15258 RER1_HUMAN RER1 retention in endoplasmic reticulum 1 11 retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane 0 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GAGAATCCGTCCATGGGAAAC 0.418 NaN 0 0 0 0.004482 0 8 37 MTHFR 4524 broad.mit.edu 37 1 11854051 11854051 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:11854051G>A uc001atc.1 - 9 1627 c.1443C>T c.(1441-1443)ACC>ACT p.T481T MTHFR_uc001atb.1_Silent_p.T504T NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 481 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GTGAGTTGATGGTGAGGATGC 0.652 NaN 0 0 0 0.007291 0 26 61 WDTC1 23038 broad.mit.edu 37 1 27623546 27623546 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:27623546G>C uc009vst.2 + 11 1492 c.957G>C c.(955-957)CAG>CAC p.Q319H WDTC1_uc001bno.2_Missense_Mutation_p.Q318H|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'UTR NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 319 protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CAGAAGTCCAGAATGGCAAGA 0.463 NaN OREG0013279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 45 USP24 23358 broad.mit.edu 37 1 55638085 55638085 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:55638085G>C uc001cyg.3 - 3 331 c.331C>G c.(331-333)CCA>GCA p.P111A NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 223 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GTGGGAATTGGATCTTGTTTT 0.358 NaN 0 0 0 0.014758 0 4 13 C8A 731 broad.mit.edu 37 1 57351743 57351743 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:57351743C>T uc001cyo.2 + 7 1131 c.999C>T c.(997-999)TTC>TTT p.F333F NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 333 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 ATGCCAAGTTCATCAATGACT 0.398 NaN 0 0 0 0.014323 0 24 38 ATXN7L2 127002 broad.mit.edu 37 1 110029160 110029160 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:110029160G>A uc001dxr.2 + 3 241 c.226G>A c.(226-228)GAT>AAT p.D76N ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 76 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CCCTGCCCATGATGACTTCTA 0.542 NaN 0 0 0 0.016723 0 13 24 ATXN7L2 127002 broad.mit.edu 37 1 110029717 110029717 + Silent SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:110029717G>C uc001dxr.2 + 4 402 c.387G>C c.(385-387)GTG>GTC p.V129V ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 129 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCATGTAGTGAATGGGCAGG 0.637 NaN 0 0 0 0.00308 0 8 7 NOTCH2 4853 broad.mit.edu 37 1 120510124 120510124 + Nonsense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:120510124G>C uc001eik.2 - 8 1641 c.1385C>G c.(1384-1386)TCA>TGA p.S462* NOTCH2_uc001eil.2_Nonsense_Mutation_p.S462*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.S379* NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 462 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGGGGTCTGAATGGCACTC 0.507 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.016723 0 14 72 C1orf104 284618 broad.mit.edu 37 1 155290718 155290718 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:155290718C>T uc001fki.2 - 2 839 c.562G>A c.(562-564)GGG>AGG p.G188R RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 188 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CTCTGTGCCCCGCCGGGCGGG 0.726 NaN 0 0 0 0.004672 0 3 11 VSIG8 391123 broad.mit.edu 37 1 159825827 159825827 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:159825827G>A uc001fuh.2 - 6 953 c.817C>T c.(817-819)CTG>TTG p.L273L C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 273 Helical; (Potential). integral to membrane central_nervous_system(1) 1 all_hematologic(112;0.0597) AGCGCGAGCAGAGAGCCCAGG 0.468 NaN 0 0 0 0.006214 0 8 8 PRG4 10216 broad.mit.edu 37 1 186276451 186276451 + Missense_Mutation SNP A A C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:186276451A>C uc001gru.3 + 7 1651 c.1600A>C c.(1600-1602)ACC>CCC p.T534P PRG4_uc001grt.3_Missense_Mutation_p.T493P|PRG4_uc009wyl.2_Missense_Mutation_p.T441P|PRG4_uc009wym.2_Missense_Mutation_p.T400P|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 534 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|24; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACCCACCACTACCAAGGAGCC 0.632 NaN 0 0 0 0.013537 0 7 51 CFH 3075 broad.mit.edu 37 1 196697596 196697596 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:196697596G>T uc001gtj.3 + 15 2597 c.2357G>T c.(2356-2358)GGA>GTA p.G786V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 786 Sushi 13. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGAAAAGAAGGATGGATACAC 0.318 NaN 1 0 0.000442599 0.006214 0.000452892 9 25 CR1L 1379 broad.mit.edu 37 1 207850763 207850763 + Missense_Mutation SNP T T A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:207850763T>A uc001hga.3 + 2 248 c.127T>A c.(127-129)TTT>ATT p.F43I CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 43 Sushi 1. cytoplasm|extracellular region|membrane 0 ATGGCTTCCATTTGCCAGGCC 0.413 NaN 0 0 0 0.004482 0 8 61 KCNH1 3756 broad.mit.edu 37 1 211192470 211192470 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:211192470G>A uc001hib.2 - 6 857 c.687C>T c.(685-687)TTC>TTT p.F229F KCNH1_uc001hic.2_Silent_p.F229F NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 229 Helical; Name=Segment S1; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGCTGTATAGAAGGTCAAGA 0.438 NaN 0 0 0 0.006122 0 18 33 CAPN9 10753 broad.mit.edu 37 1 230903408 230903408 + Silent SNP C C T rs147002278 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:230903408C>T uc001htz.1 + 5 771 c.658C>T c.(658-660)CTA>TTA p.L220L CAPN9_uc009xfg.1_Silent_p.L157L|CAPN9_uc001hua.1_Silent_p.L220L NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 220 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CTATGAGATTCTAGAGAAGGC 0.547 NaN 0 0 0 0.004007 0 15 65 TUBAL3 79861 broad.mit.edu 37 10 5437320 5437320 + Silent SNP G G A rs144348755 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:5437320G>A uc001ihy.2 - 3 406 c.366C>T c.(364-366)ATC>ATT p.I122I TUBAL3_uc001ihz.2_Silent_p.I82I NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 122 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 GCACAAGGTCGATGACCTCCG 0.622 NaN 0 0 0 0.009718 0 42 67 NRP1 8829 broad.mit.edu 37 10 33469270 33469270 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:33469270C>T uc001iwx.3 - 17 3029 c.2506G>A c.(2506-2508)GAA>AAA p.E836K NRP1_uc001iwv.3_Missense_Mutation_p.E819K|NRP1_uc009xlz.2_Missense_Mutation_p.E830K|NRP1_uc001iww.3_Missense_Mutation_p.E648K|NRP1_uc001iwy.3_Missense_Mutation_p.E829K NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 836 Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CCTTCTCCTTCACCTTCGTAT 0.488 NaN 0 0 0 0.01441 0 50 73 RBP3 5949 broad.mit.edu 37 10 48388414 48388414 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:48388414C>T uc001jez.2 - 1 2578 c.2464G>A c.(2464-2466)GAG>AAG p.E822K NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 822 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GTCCACACCTCCGTGACTTTT 0.617 NaN 0 0 0 0.014758 0 4 33 ADAMTS14 140766 broad.mit.edu 37 10 72496495 72496495 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:72496495C>T uc001jrh.2 + 10 1545 c.1545C>T c.(1543-1545)TTC>TTT p.F515F ADAMTS14_uc001jrg.2_Silent_p.F518F|ADAMTS14_uc001jri.1_Silent_p.F38F NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 515 Disintegrin. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 ACCCGTACTTCTGCAAGACCA 0.622 NaN 0 0 0 0.016522 0 21 26 ANKRD1 27063 broad.mit.edu 37 10 92672725 92672725 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:92672725C>A uc001khe.1 - 9 1106 c.858G>T c.(856-858)AAG>AAT p.K286N NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 286 ANK 5. cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) CCATCGGCGTCTTCCCAGCCT 0.448 NaN 1 0 7.11191e-15 0.013726 7.72652e-15 34 49 NFKB2 4791 broad.mit.edu 37 10 104156527 104156527 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr10:104156527G>A uc001kvb.2 + 5 455 c.190G>A c.(190-192)GGA>AGA p.G64R NFKB2_uc001kva.2_Missense_Mutation_p.G64R|NFKB2_uc010qqk.1_Missense_Mutation_p.G64R|NFKB2_uc001kvd.2_Missense_Mutation_p.G64R|NFKB2_uc009xxc.2_Missense_Mutation_p.G64R NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 64 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CTCCCATGGAGGACTGCCCGG 0.592 NaN T IGH@ B-NHL 0 0 0 0.001984 0 6 76 NAP1L4 4676 broad.mit.edu 37 11 2975819 2975819 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:2975819C>T uc001lxc.2 - 12 1114 c.973G>A c.(973-975)GAG>AAG p.E325K NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.E325K|NAP1L4_uc010qxn.1_Missense_Mutation_p.E325K NM_005969 NP_005960 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 325 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding ovary(1) 1 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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) ACTATCCGCTCACGGAAAAAG 0.483 NaN 0 0 0 0.010729 0 11 30 C11orf40 143501 broad.mit.edu 37 11 4593489 4593489 + Missense_Mutation SNP G G C rs141444146 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:4593489G>C uc010qyg.1 - 3 344 c.344C>G c.(343-345)TCT>TGT p.S115C NM_144663 NP_653264 Q8WZ69 CK040_HUMAN hypothetical protein LOC143501 115 ovary(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCAGGAAATAGAGATTCCACT 0.458 NaN 0 0 0 0.013537 0 11 27 FOLH1 2346 broad.mit.edu 37 11 49175904 49175904 + Silent SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:49175904G>T uc001ngy.2 - 16 2025 c.1764C>A c.(1762-1764)GCC>GCA p.A588A FOLH1_uc001ngx.2_Silent_p.A20A|FOLH1_uc001ngz.2_Silent_p.A588A|FOLH1_uc009yly.2_Silent_p.A573A|FOLH1_uc009ylz.2_Silent_p.A573A|FOLH1_uc009yma.2_Silent_p.A280A NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 588 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTATGGAATTGGCTAGCTCAA 0.383 NaN 1 0 2.27111e-07 0.013537 2.40792e-07 7 42 OR5D18 219438 broad.mit.edu 37 11 55587651 55587651 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:55587651C>G uc010rin.1 + 1 546 c.546C>G c.(544-546)TTC>TTG p.F182L NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCTGTGAGTTCTCCTCACTAC 0.428 NaN 0 0 0 0.008361 0 29 76 TNKS1BP1 85456 broad.mit.edu 37 11 57080172 57080172 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:57080172C>G uc001njr.2 - 4 2302 c.1990G>C c.(1990-1992)GAG>CAG p.E664Q TNKS1BP1_uc001njs.2_Missense_Mutation_p.E664Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.E115Q NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 664 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) TCTTGAGCCTCTGTCCTGGCT 0.642 NaN 0 0 0 0.016723 0 13 29 UBE2L6 9246 broad.mit.edu 37 11 57327878 57327878 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:57327878G>T uc001nkn.1 - 2 151 c.55C>A c.(55-57)CCC>ACC p.P19T UBE2L6_uc001nko.1_5'UTR NM_004223 NP_004214 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 isoform 1 19 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity ovary(1) 1 AGGTATGGGGGAGGCTTCTTC 0.592 NaN 1 0 1.3612e-06 0.003163 1.42602e-06 16 64 STIP1 10963 broad.mit.edu 37 11 63970354 63970354 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:63970354G>A uc001nyk.1 + 11 1399 c.1252G>A c.(1252-1254)GAG>AAG p.E418K STIP1_uc010rnb.1_Missense_Mutation_p.E394K NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 418 TPR 8. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 CTAGGACTGTGAGGAATGTAT 0.483 NaN 0 0 0 0.01892 0 23 68 PLCB3 5331 broad.mit.edu 37 11 64022383 64022383 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:64022383G>A uc001nzb.2 + 4 260 c.260G>A c.(259-261)CGG>CAG p.R87Q PLCB3_uc009ypg.1_Missense_Mutation_p.R87Q|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Missense_Mutation_p.R87Q NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 87 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CCCAAGATCCGGGAAGTTCTG 0.607 NaN 0 0 0 0.004672 0 3 29 AIP 9049 broad.mit.edu 37 11 67257650 67257650 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:67257650G>A uc001olv.2 + 4 735 c.610G>A c.(610-612)GAT>AAT p.D204N NM_003977 NP_003968 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 204 TPR 1. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding 0 CAAGTACTACGATGCCATTGC 0.607 NaN Familial_Isolated_Pituitary_Adenoma_ 0 0 0 0.013537 0 10 23 SHANK2 22941 broad.mit.edu 37 11 70319408 70319408 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:70319408G>A uc001oqc.2 - 22 5194 c.5116C>T c.(5116-5118)CGT>TGT p.R1706C SHANK2_uc010rqn.1_Missense_Mutation_p.R1118C|SHANK2_uc001opz.2_Missense_Mutation_p.R1111C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.R42C NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1327 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTTGGGGCACGTCTTGTTCCT 0.642 NaN 0 0 0 0.014758 0 5 46 MOGAT2 80168 broad.mit.edu 37 11 75442218 75442218 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:75442218G>A uc010rru.1 + 6 892 c.892G>A c.(892-894)GAG>AAG p.E298K MOGAT2_uc010rrv.1_Missense_Mutation_p.E216K NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 298 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GCATCCCTCGGAGGAGGAGGT 0.567 NaN 0 0 0 0.00499 0 18 39 PANX1 24145 broad.mit.edu 37 11 93911662 93911662 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:93911662A>G uc001per.2 + 3 834 c.449A>G c.(448-450)TAC>TGC p.Y150C PANX1_uc001peq.2_Missense_Mutation_p.Y150C NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 150 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GACAAAGTTTACAACCGTGCA 0.498 NaN 0 0 0 0.013537 0 13 47 PHLDB1 23187 broad.mit.edu 37 11 118516477 118516477 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:118516477G>C uc001ptr.1 + 18 3794 c.3441G>C c.(3439-3441)AAG>AAC p.K1147N PHLDB1_uc001pts.2_Missense_Mutation_p.K1147N|PHLDB1_uc001ptt.2_Missense_Mutation_p.K1100N|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.K962N|PHLDB1_uc001ptw.1_Missense_Mutation_p.K502N|PHLDB1_uc009zai.1_Missense_Mutation_p.K183N|PHLDB1_uc001ptx.1_Missense_Mutation_p.K183N|PHLDB1_uc010ryi.1_3'UTR NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1147 Potential. 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACATGGGGAAGATCGAGGAGA 0.612 NaN 0 0 0 0.012319 0 21 46 PANX3 116337 broad.mit.edu 37 11 124482880 124482880 + Silent SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:124482880T>C uc001qah.2 + 2 186 c.186T>C c.(184-186)TCT>TCC p.S62S NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 62 Extracellular (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TTGCAGGGTCTCCGATCAGCT 0.572 NaN 0 0 0 0.003163 0 15 41 CHD4 1108 broad.mit.edu 37 12 6691413 6691413 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:6691413C>G uc001qpo.2 - 30 4569 c.4405G>C c.(4405-4407)GAG>CAG p.E1469Q CHD4_uc001qpn.2_Missense_Mutation_p.E1462Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1494Q|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1469 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|zinc ion binding central_nervous_system(2) 2 GCCCCCGGCTCACATAAATGC 0.473 NaN 0 0 0 0.008291 0 10 54 PDE6H 5149 broad.mit.edu 37 12 15131027 15131027 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:15131027G>T uc001rcr.2 + 2 165 c.81G>T c.(79-81)AAG>AAT p.K27N NM_006205 NP_006196 Q13956 CNCG_HUMAN phosphodiesterase 6H 27 Arg/Lys-rich (basic). visual perception 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity ovary(1)|skin(1) 2 CCAAGTTCAAGCAGAGGCAGA 0.483 NaN 1 0 2.0095e-06 0.001984 2.09687e-06 7 21 SLCO1B1 10599 broad.mit.edu 37 12 21391927 21391927 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:21391927G>T uc001req.3 + 15 1984 c.1880G>T c.(1879-1881)GGC>GTC p.G627V NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 627 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTCTACTTGGGCTTGTCTTCA 0.279 NaN 1 0 0.00307968 0.00308 0.00312706 8 31 CASC1 55259 broad.mit.edu 37 12 25302597 25302597 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:25302597G>C uc001rgl.2 - 6 614 c.532C>G c.(532-534)CTT>GTT p.L178V CASC1_uc001rgk.2_Missense_Mutation_p.L184V|CASC1_uc001rgm.3_Missense_Mutation_p.L242V|CASC1_uc001rgj.2_Missense_Mutation_p.L138V|CASC1_uc010sje.1_Missense_Mutation_p.L119V|CASC1_uc010sjf.1_Missense_Mutation_p.L66V|CASC1_uc010sjg.1_Missense_Mutation_p.L178V NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 178 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CCGAATTTAAGATGAAGGAGC 0.284 NaN 0 0 0 0.008291 0 10 34 KITLG 4254 broad.mit.edu 37 12 88900821 88900821 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:88900821C>G uc001tav.2 - 7 881 c.698G>C c.(697-699)GGA>GCA p.G233A KITLG_uc009zsn.2_Intron|KITLG_uc001taw.2_Missense_Mutation_p.G205A|KITLG_uc009zso.1_RNA NM_000899 NP_000890 P21583 SCF_HUMAN KIT ligand isoform b precursor 233 Helical; (Potential). cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding ovary(1) 1 GTATAAGGCTCCAAAAGCAAA 0.378 NaN Testicular_Cancer_Familial_Clustering_of 0 0 0 0.001168 0 5 40 ANO4 121601 broad.mit.edu 37 12 101510519 101510519 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:101510519G>C uc010svm.1 + 25 3085 c.2513G>C c.(2512-2514)CGA>CCA p.R838P ANO4_uc001thw.2_Missense_Mutation_p.R803P|ANO4_uc001thx.2_Missense_Mutation_p.R838P|ANO4_uc001thy.2_Missense_Mutation_p.R358P NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 838 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TTTGAGAACCGATCTGAGCCT 0.507 NaN HNSCC(74;0.22) 0 0 0 0.007291 0 29 87 MYBPC1 4604 broad.mit.edu 37 12 102060550 102060550 + Silent SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:102060550T>C uc001tii.2 + 21 2412 c.2310T>C c.(2308-2310)AAT>AAC p.N770N MYBPC1_uc001tig.2_Intron|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Intron|MYBPC1_uc001tij.2_Intron|MYBPC1_uc010svr.1_Intron|MYBPC1_uc010svs.1_Silent_p.N770N|MYBPC1_uc010svt.1_Intron|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Intron|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 770 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CTGATGAAAATGGGGAGGCTG 0.368 NaN 0 0 0 0.013537 0 12 59 ANAPC7 51434 broad.mit.edu 37 12 110825668 110825668 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:110825668C>G uc001tqo.2 - 5 653 c.652G>C c.(652-654)GAG>CAG p.E218Q ANAPC7_uc001tqp.3_Missense_Mutation_p.E218Q NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 218 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 GATGCCACCTCTGCCCCTTTT 0.473 NaN 0 0 0 0.006214 0 9 14 DNAH10 196385 broad.mit.edu 37 12 124345622 124345622 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:124345622C>T uc001uft.3 + 38 6484 c.6459C>T c.(6457-6459)TAC>TAT p.Y2153Y NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2153 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAGAACTCTACGGCATCCTGG 0.493 NaN 0 0 0 0.010729 0 11 46 FREM2 341640 broad.mit.edu 37 13 39263186 39263186 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr13:39263186C>A uc001uwv.2 + 1 2014 c.1705C>A c.(1705-1707)CTG>ATG p.L569M NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 569 CSPG 3.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAACACGGGGCTGACACTGGC 0.547 NaN 1 0 3.09899e-07 0.004482 3.27253e-07 9 24 HAUS4 54930 broad.mit.edu 37 14 23419580 23419580 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:23419580C>G uc001whp.2 - 5 536 c.505G>C c.(505-507)GAG>CAG p.E169Q HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Missense_Mutation_p.E169Q|HAUS4_uc001whs.2_Missense_Mutation_p.E124Q|HAUS4_uc001wht.2_Missense_Mutation_p.E169Q|HAUS4_uc001whu.2_Missense_Mutation_p.E124Q|HAUS4_uc001whv.2_Missense_Mutation_p.E45Q|HAUS4_uc001whw.2_Missense_Mutation_p.E169Q|HAUS4_uc001whx.2_Missense_Mutation_p.E124Q NM_017815 NP_060285 Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 169 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle ovary(1) 1 AGCTGCTCCTCTACTTCTTGC 0.358 NaN 0 0 0 0.00308 0 8 26 KIAA0391 9692 broad.mit.edu 37 14 35592881 35592881 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:35592881A>G uc001wsy.1 + 2 790 c.430A>G c.(430-432)ATC>GTC p.I144V KIAA0391_uc010tps.1_Missense_Mutation_p.I49V|KIAA0391_uc001wsz.1_Missense_Mutation_p.I144V|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.I144V|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 144 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CGAAAGTTGGATCATTTCACA 0.398 NaN 0 0 0 0.004482 0 9 64 SYNE2 23224 broad.mit.edu 37 14 64625483 64625483 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:64625483G>A uc001xgm.2 + 86 16163 c.15933G>A c.(15931-15933)GAG>GAA p.E5311E SYNE2_uc001xgl.2_Silent_p.E5311E|SYNE2_uc010apy.2_Silent_p.E1696E|SYNE2_uc001xgn.2_Silent_p.E273E|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Silent_p.E40E NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5311 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TATCATTGGAGACCTTGAGAT 0.433 NaN 0 0 0 0.016723 0 12 25 STON2 85439 broad.mit.edu 37 14 81744349 81744349 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:81744349C>T uc010tvu.1 - 4 1507 c.1306G>A c.(1306-1308)GAG>AAG p.E436K STON2_uc001xvk.1_Missense_Mutation_p.E436K|STON2_uc010tvt.1_Missense_Mutation_p.E233K NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 436 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TTTTTCTTCTCAGGGATCCTC 0.527 NaN 0 0 0 0.01441 0 50 110 TECPR2 9895 broad.mit.edu 37 14 102898165 102898165 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:102898165G>C uc001ylw.1 + 8 1265 c.1117G>C c.(1117-1119)GAG>CAG p.E373Q TECPR2_uc010awl.2_Missense_Mutation_p.E373Q|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 373 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 TGGATGCTCAGAGCGTGTCCA 0.557 NaN 0 0 0 0.01892 0 25 70 XRCC3 7517 broad.mit.edu 37 14 104177481 104177481 + Translation_Start_Site SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr14:104177481G>C uc001yny.3 - 4 324 c.-56C>G c.(-58--54)ATCCA>ATGCA XRCC3_uc001ynx.3_Translation_Start_Site|XRCC3_uc001ynz.3_Translation_Start_Site|XRCC3_uc001yoa.3_Translation_Start_Site|XRCC3_uc001yob.1_RNA NM_005432 NP_005423 O43542 XRCC3_HUMAN X-ray repair cross complementing protein 3 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CAGAACAATGGATGCAAATTC 0.527 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.014758 0 5 9 FMN1 342184 broad.mit.edu 37 15 33192230 33192230 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:33192230C>T uc001zhf.3 - 10 2935 c.2935G>A c.(2935-2937)GAT>AAT p.D979N NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1202 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTATATCCATCGGCTTGTCCC 0.393 NaN 0 0 0 0.009718 0 42 112 EIF2AK4 440275 broad.mit.edu 37 15 40235658 40235658 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:40235658A>G uc001zkm.1 + 3 382 c.332A>G c.(331-333)GAA>GGA p.E111G EIF2AK4_uc001zkl.2_Missense_Mutation_p.E111G NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 111 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TCTCGCCTAGAAGAACTGGCC 0.338 NaN 0 0 0 0.004007 0 15 42 BMF 90427 broad.mit.edu 37 15 40396430 40396430 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:40396430C>T uc001zkv.2 - 3 490 c.404G>A c.(403-405)CGA>CAA p.R135Q BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.R135Q NM_033503 NP_277038 Q96LC9 BMF_HUMAN Bcl2 modifying factor isoform bmf-1 135 BH3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding ovary(1) 1 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) CTGAAGCTTTCGGGCAATCTG 0.597 NaN 0 0 0 0.005443 0 28 93 MGA 23269 broad.mit.edu 37 15 42042440 42042440 + Nonsense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:42042440C>G uc010ucy.1 + 17 6816 c.6635C>G c.(6634-6636)TCA>TGA p.S2212* MGA_uc010ucz.1_Nonsense_Mutation_p.S2003*|MGA_uc010uda.1_Nonsense_Mutation_p.S828*|MGA_uc001zoi.2_Nonsense_Mutation_p.S426* NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2173 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CAGGAAAATTCAGATGTGTTT 0.398 NaN 0 0 0 0.013726 0 31 66 STRC 161497 broad.mit.edu 37 15 43896298 43896298 + Nonsense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:43896298C>T uc001zsf.2 - 22 4349 c.4271G>A c.(4270-4272)TGG>TAG p.W1424* STRC_uc010bdl.2_Nonsense_Mutation_p.W651*|STRC_uc001zse.2_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1424 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTCTGCTCCCAGCTCTGCTG 0.582 NaN 0 0 0 0.008291 0 8 27 DUOX2 50506 broad.mit.edu 37 15 45396470 45396470 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:45396470C>T uc010bea.2 - 19 2631 c.2428G>A c.(2428-2430)GAG>AAG p.E810K DUOX2_uc001zun.2_Missense_Mutation_p.E810K NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 810 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCGGCAAACTCGGCCCTGCTC 0.627 NaN 0 0 0 0.016723 0 12 14 TMC3 342125 broad.mit.edu 37 15 81625286 81625286 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr15:81625286C>T uc002bgo.1 - 22 2777 c.2777G>A c.(2776-2778)CGA>CAA p.R926Q TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 926 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 TGCATATTGTCGCACGTTCCT 0.512 NaN 0 0 0 0.006122 0 17 36 WDR90 197335 broad.mit.edu 37 16 708543 708543 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:708543G>A uc002cii.1 + 23 2839 c.2785G>A c.(2785-2787)GAG>AAG p.E929K WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E456K|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.E103K|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 929 WD 10. ovary(1) 1 Hepatocellular(780;0.0218) TGTCCACCCTGAGCCCTGCCC 0.662 NaN 0 0 0 0.009535 0 29 67 RBBP6 5930 broad.mit.edu 37 16 24578570 24578570 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:24578570C>T uc002dmh.2 + 15 2736 c.1696C>T c.(1696-1698)CCG>TCG p.P566S RBBP6_uc010vcb.1_Missense_Mutation_p.P433S|RBBP6_uc002dmi.2_Missense_Mutation_p.P566S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P433S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 566 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) tcctttgtatccgcctcctcc 0.299 NaN 0 0 0 0.008871 0 21 84 NSMCE1 197370 broad.mit.edu 37 16 27246536 27246536 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:27246536C>T uc002doi.1 - 3 319 c.221G>A c.(220-222)GGA>GAA p.G74E NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 74 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 TTCCGTGACTCCTCTCTTTAT 0.493 NaN OREG0023693 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 10 34 TAOK2 9344 broad.mit.edu 37 16 29998793 29998793 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:29998793G>A uc002dva.1 + 16 3983 c.3200G>A c.(3199-3201)GGC>GAC p.G1067D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.G1074D|TAOK2_uc002dvd.1_Missense_Mutation_p.G894D NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 1067 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 GCAGCGGGGGGCAGATGGGTG 0.692 NaN 0 0 0 0.00308 0 6 31 HSD3B7 80270 broad.mit.edu 37 16 30997087 30997087 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:30997087C>T uc002eaf.2 + 2 214 c.108C>T c.(106-108)CTC>CTT p.L36L HSD3B7_uc010cac.2_Silent_p.L36L|HSD3B7_uc002eag.2_Silent_p.L36L|HSD3B7_uc002eah.2_Silent_p.L36L NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 36 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 AGCCCCGGCTCGGGGAGCTGC 0.642 NaN 0 0 0 0.014758 0 5 6 SLC12A3 6559 broad.mit.edu 37 16 56901090 56901090 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:56901090G>A uc010ccm.2 + 2 420 c.391G>A c.(391-393)GAG>AAG p.E131K SLC12A3_uc002ekd.3_Missense_Mutation_p.E131K|SLC12A3_uc010ccn.2_Missense_Mutation_p.E130K NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 131 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GAAGAACCCCGAGGAGCCAGT 0.652 NaN 0 0 0 0.004672 0 3 8 GINS3 64785 broad.mit.edu 37 16 58438619 58438619 + Missense_Mutation SNP G G C rs144642422 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:58438619G>C uc002enh.3 + 3 845 c.637G>C c.(637-639)GAT>CAT p.D213H GINS3_uc010cdj.2_Missense_Mutation_p.D252H|GINS3_uc002enj.3_Missense_Mutation_p.D135H|GINS3_uc002eni.3_3'UTR NM_022770 NP_073607 Q9BRX5 PSF3_HUMAN GINS complex subunit 3 isoform b 213 DNA replication nucleus 0 AAAATTCACTGATATGGAAGA 0.478 NaN 0 0 0 0.001984 0 7 19 PARD6A 50855 broad.mit.edu 37 16 67696467 67696467 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:67696467C>T uc002ett.2 + 3 1049 c.958C>T c.(958-960)CTG>TTG p.L320L ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.L319L|PARD6A_uc002etu.2_Silent_p.L144L NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 320 cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGCTCTCTGCCCTCCCT 0.637 NaN 0 0 0 0.010729 0 9 19 ESRP2 80004 broad.mit.edu 37 16 68264333 68264333 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr16:68264333C>G uc010cfa.1 - 14 2241 c.2053G>C c.(2053-2055)GCT>CCT p.A685P ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.A675P NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN RNA binding motif protein 35B 685 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding ovary(1) 1 TTCATACCAGCCGTGTATGGG 0.617 NaN 0 0 0 0.014323 0 24 55 SGK494 124923 broad.mit.edu 37 17 26940312 26940312 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26940312C>G uc002hbr.1 - 3 408 c.376G>C c.(376-378)GAT>CAT p.D126H SGK494_uc010waq.1_Missense_Mutation_p.D126H|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron NM_144610 NP_653211 uncharacterized serine/threonine-protein kinase 0 TGGGTGCAATCTAGCACCTTG 0.458 NaN OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.021523 0 23 39 SGK494 124923 broad.mit.edu 37 17 26940461 26940461 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26940461C>T uc002hbr.1 - 2 353 c.321G>A c.(319-321)CTG>CTA p.L107L SGK494_uc010waq.1_Silent_p.L107L|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron NM_144610 NP_653211 uncharacterized serine/threonine-protein kinase 0 GACTTACCTTCAGCTGCTGCT 0.502 NaN OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 20 41 KIAA0100 9703 broad.mit.edu 37 17 26942708 26942708 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26942708C>A uc002hbu.2 - 38 6598 c.6499G>T c.(6499-6501)GAC>TAC p.D2167Y SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D496Y NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2167 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TTGCGGCTGTCCCTTTTGACA 0.557 NaN 1 0 6.40141e-05 0.010729 6.57577e-05 11 39 KIAA0100 9703 broad.mit.edu 37 17 26942717 26942717 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26942717C>T uc002hbu.2 - 38 6589 c.6490G>A c.(6490-6492)GTC>ATC p.V2164I SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.V493I NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2164 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TCCCTTTTGACAGCCATGGCA 0.567 NaN 0 0 0 0.013537 0 13 34 KIAA0100 9703 broad.mit.edu 37 17 26943203 26943203 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26943203C>T uc002hbu.2 - 37 6400 c.6301G>A c.(6301-6303)GAC>AAC p.D2101N SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D430N NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2101 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TTGTCAATGTCATCCACAGGG 0.478 NaN 0 0 0 0.008291 0 11 28 KIAA0100 9703 broad.mit.edu 37 17 26945827 26945827 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:26945827C>G uc002hbu.2 - 32 5904 c.5805G>C c.(5803-5805)CAG>CAC p.Q1935H KIAA0100_uc002hbt.2_Missense_Mutation_p.Q264H NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1935 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGAGGAACCTCTGCAGTTCTA 0.478 NaN 0 0 0 0.005443 0 24 56 SUPT6H 6830 broad.mit.edu 37 17 27008291 27008291 + Nonsense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:27008291C>G uc002hby.2 + 12 1457 c.1367C>G c.(1366-1368)TCA>TGA p.S456* SUPT6H_uc010crt.2_Nonsense_Mutation_p.S456* NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 456 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GATGTCCAATCAATGGATGAG 0.443 NaN 0 0 0 0.010504 0 20 41 TP53I13 90313 broad.mit.edu 37 17 27895814 27895814 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:27895814T>C uc002hee.2 + 1 76 c.38T>C c.(37-39)CTG>CCG p.L13P ABHD15_uc002hed.1_5'Flank NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 13 cytoplasm|integral to membrane|plasma membrane 0 READ - Rectum adenocarcinoma(3;0.236) CTGCTTCTCCTGGCAGCCCTC 0.468 NaN 0 0 0 0.020292 0 13 18 AP2B1 163 broad.mit.edu 37 17 33966732 33966732 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:33966732G>A uc002hjr.2 + 11 1579 c.1390G>A c.(1390-1392)GAG>AAG p.E464K AP2B1_uc002hjq.2_Missense_Mutation_p.E464K|AP2B1_uc010wci.1_Missense_Mutation_p.E426K|AP2B1_uc002hjs.2_Missense_Mutation_p.E407K|AP2B1_uc002hjt.2_Missense_Mutation_p.E464K|AP2B1_uc010ctv.2_Missense_Mutation_p.E464K|AP2B1_uc010wcj.1_Missense_Mutation_p.E201K NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 464 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CAATGCAGATGAGTTACTAGA 0.438 NaN 0 0 0 0.004007 0 16 50 AATF 26574 broad.mit.edu 37 17 35310257 35310257 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:35310257G>A uc002hni.2 + 3 606 c.355G>A c.(355-357)GAG>AAG p.E119K AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 119 Glu-rich. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) GGAATATGATGAGGACGACCT 0.498 NaN 0 0 0 0.013537 0 12 49 CACNB1 782 broad.mit.edu 37 17 37343111 37343111 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:37343111G>A uc002hrm.1 - 5 639 c.486C>T c.(484-486)CCC>CCT p.P162P CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.P162P|CACNB1_uc002hro.2_Silent_p.P162P|CACNB1_uc002hrp.1_Silent_p.P162P|CACNB1_uc010web.1_Silent_p.P115P NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 162 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCAGTTTGACGGGGCTGGGAA 0.592 NaN 0 0 0 0.014323 0 22 40 FBXL20 84961 broad.mit.edu 37 17 37431242 37431242 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:37431242G>C uc010wed.1 - 10 1029 c.808C>G c.(808-810)CAG>GAG p.Q270E FBXL20_uc002hrt.2_Missense_Mutation_p.Q270E|FBXL20_uc010cvu.2_Missense_Mutation_p.Q238E NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 270 LRR 8. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) GGGCAGTTCTGACCTAGAGCA 0.418 NaN 0 0 0 0.010729 0 11 48 CDK12 51755 broad.mit.edu 37 17 37618889 37618889 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:37618889G>A uc010cvv.2 + 1 1151 c.565G>A c.(565-567)GAG>AAG p.E189K CDK12_uc010wef.1_Missense_Mutation_p.E189K|CDK12_uc002hrw.3_Missense_Mutation_p.E189K NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 189 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 GAAAGAACGGGAGCTGAAGTC 0.502 NaN TCGA Ovarian(9;0.13) 0 0 0 0.004482 0 8 28 COASY 80347 broad.mit.edu 37 17 40717318 40717318 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:40717318C>G uc002hzz.2 + 7 1533 c.1376C>G c.(1375-1377)GCT>GGT p.A459G COASY_uc010cyj.2_Missense_Mutation_p.A488G|COASY_uc002iab.2_Missense_Mutation_p.A164G|COASY_uc002iad.2_Missense_Mutation_p.A459G|COASY_uc002iac.2_Missense_Mutation_p.A459G|COASY_uc002iae.2_Missense_Mutation_p.A254G|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 459 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) ATGGATCGGGCTGTGGCTGAG 0.577 NaN 0 0 0 0.014758 0 5 94 ITGA2B 3674 broad.mit.edu 37 17 42463435 42463435 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:42463435A>G uc002igt.1 - 2 285 c.253T>C c.(253-255)TTC>CTC p.F85L NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 85 Extracellular (Potential).|FG-GAP 1. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGCACAGGAACACGCCGCCC 0.697 NaN 0 0 0 0.004672 0 3 10 ITGB3 3690 broad.mit.edu 37 17 45387520 45387520 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:45387520T>C uc002ilj.2 + 15 2337 c.2317T>C c.(2317-2319)TAT>CAT p.Y773H ITGB3_uc010wkr.1_Intron NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 773 Cytoplasmic (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CAACCCACTGTATAAAGAGGC 0.448 NaN 0 0 0 0.00499 0 14 35 KPNB1 3837 broad.mit.edu 37 17 45727754 45727754 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:45727754C>G uc002ilt.1 + 2 379 c.43C>G c.(43-45)CGG>GGG p.R15G KPNB1_uc010wkw.1_5'Flank NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 15 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CCCCCTAGATCGGCTGGAGCT 0.721 NaN 0 0 0 0.009096 0 4 12 MRPL10 124995 broad.mit.edu 37 17 45901691 45901691 + Silent SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:45901691G>C uc002ilz.2 - 5 692 c.666C>G c.(664-666)CTC>CTG p.L222L OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Silent_p.L183L|MRPL10_uc002ily.2_Silent_p.L232L NM_145255 NP_660298 Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 precursor 222 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome ovary(1) 1 GCTGGTGCTGGAGCAGGGAGT 0.607 NaN 0 0 0 0.020292 0 13 42 ANKFN1 162282 broad.mit.edu 37 17 54526504 54526504 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:54526504G>A uc002iun.1 + 10 1208 c.1173G>A c.(1171-1173)CTG>CTA p.L391L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 391 large_intestine(1)|ovary(1) 2 TGGAAGGTCTGCTGCAGCAGG 0.468 NaN 0 0 0 0.008871 0 17 47 BCAS3 54828 broad.mit.edu 37 17 59067473 59067473 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:59067473A>G uc002iyv.3 + 15 1472 c.1363A>G c.(1363-1365)ATG>GTG p.M455V BCAS3_uc010wow.1_Missense_Mutation_p.M242V|BCAS3_uc002iyu.3_Missense_Mutation_p.M455V|BCAS3_uc002iyw.3_Missense_Mutation_p.M451V|BCAS3_uc002iyx.1_Missense_Mutation_p.M270V|BCAS3_uc002iyy.3_Missense_Mutation_p.M226V|BCAS3_uc002iyz.3_Missense_Mutation_p.M9V|BCAS3_uc002iza.3_Missense_Mutation_p.M9V NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 455 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGTGAATCGCATGAGCCGTTT 0.512 NaN 0 0 0 0.004007 0 17 38 LRRC37A3 374819 broad.mit.edu 37 17 62864655 62864655 + Splice_Site SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:62864655C>G uc002jey.2 - 9 3510 c.2979_splice c.e9-1 p.L993_splice LRRC37A3_uc010wqg.1_Splice_Site_p.L111_splice|LRRC37A3_uc010wqf.1_Splice_Site_p.L31_splice|LRRC37A3_uc010dek.1_Splice_Site NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 integral to membrane 0 TCCCATGTCTCTGAAGAAGAA 0.353 NaN 0 0 0 0.005443 0 21 69 NUP85 79902 broad.mit.edu 37 17 73231679 73231679 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr17:73231679G>A uc002jng.1 + 19 2136 c.1876G>A c.(1876-1878)GAC>AAC p.D626N NUP85_uc010dgd.1_Missense_Mutation_p.D581N|NUP85_uc010wrv.1_Missense_Mutation_p.D580N|NUP85_uc002jnh.1_Missense_Mutation_p.D229N NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 626 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GCAGGATGATGACATAGAGAC 0.502 NaN 0 0 0 0.014323 0 19 31 COLEC12 81035 broad.mit.edu 37 18 346369 346369 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr18:346369G>A uc002kkm.2 - 5 1468 c.1253C>T c.(1252-1254)TCA>TTA p.S418L NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 418 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CATAATCACTGATAAGTTGGC 0.378 NaN 0 0 0 0.001984 0 7 53 MYOM1 8736 broad.mit.edu 37 18 3119940 3119940 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr18:3119940G>A uc002klp.2 - 20 3379 c.3045C>T c.(3043-3045)AAC>AAT p.N1015N MYOM1_uc002klq.2_Silent_p.N919N NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1015 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCCCAGCCATGTTCATGGCTG 0.502 NaN 0 0 0 0.014758 0 3 4 LAMA3 3909 broad.mit.edu 37 18 21395492 21395492 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr18:21395492G>C uc002kuq.2 + 17 2088 c.2002G>C c.(2002-2004)GAT>CAT p.D668H LAMA3_uc002kur.2_Missense_Mutation_p.D668H NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 668 Domain V.|Laminin EGF-like 7. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCTGTGAAGATGGATATTT 0.453 NaN 0 0 0 0.004482 0 9 36 LAMA3 3909 broad.mit.edu 37 18 21396406 21396406 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr18:21396406G>T uc002kuq.2 + 18 2188 c.2102G>T c.(2101-2103)GGA>GTA p.G701V LAMA3_uc002kur.2_Missense_Mutation_p.G701V NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 701 Domain V.|Laminin EGF-like 8. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCCCTCGGGAGTGTGCCAG 0.552 NaN 1 0 2.68362e-12 0.013537 2.89174e-12 10 28 SLC14A2 8170 broad.mit.edu 37 18 43205653 43205653 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr18:43205653C>G uc010dnj.2 + 4 477 c.156C>G c.(154-156)CTC>CTG p.L52L SLC14A2_uc002lbb.2_Silent_p.L52L|SLC14A2_uc002lbe.2_Silent_p.L52L NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 52 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 AAAAGGATCTCCGGTCTTCCA 0.468 NaN 0 0 0 0.010729 0 10 20 ZNF266 10781 broad.mit.edu 37 19 9528554 9528554 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:9528554G>A uc002mll.2 - 2 331 c.65C>T c.(64-66)TCT>TTT p.S22F ZNF266_uc002mlm.2_Missense_Mutation_p.S22F|ZNF266_uc002mln.2_Missense_Mutation_p.S22F|ZNF266_uc002mlo.2_Missense_Mutation_p.S22F|ZNF266_uc010dwp.2_Missense_Mutation_p.S22F|ZNF266_uc010dwq.2_Missense_Mutation_p.S22F NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 22 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCAGCCAAGAGATCAGACT 0.433 NaN 0 0 0 0.011902 0 44 89 ZNF121 7675 broad.mit.edu 37 19 9676748 9676748 + Missense_Mutation SNP T T A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:9676748T>A uc010xkp.1 - 4 1273 c.1041A>T c.(1039-1041)AAA>AAT p.K347N ZNF121_uc010dwt.2_Missense_Mutation_p.K347N|ZNF121_uc010xkq.1_Missense_Mutation_p.K347N NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 347 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACGGAAGGTTTTCCCACATT 0.388 NaN 0 0 0 0.004007 0 16 36 ANGPTL6 83854 broad.mit.edu 37 19 10204373 10204373 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:10204373T>C uc002mmx.1 - 4 1065 c.947A>G c.(946-948)TAT>TGT p.Y316C ANGPTL6_uc002mmy.1_Missense_Mutation_p.Y316C NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 316 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) GCCCACCTTATAGTGCTGCCA 0.607 NaN 0 0 0 0.010729 0 12 57 ICAM1 3383 broad.mit.edu 37 19 10395527 10395527 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:10395527C>G uc002mnq.2 + 6 1568 c.1249C>G c.(1249-1251)CCA>GCA p.P417A ICAM1_uc010xle.1_Missense_Mutation_p.P195A|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 417 Extracellular (Potential).|Ig-like C2-type 5. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CCAGCAGACTCCAATGTGCCA 0.557 NaN 0 0 0 0.003163 0 15 34 ICAM1 3383 broad.mit.edu 37 19 10395565 10395565 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:10395565C>G uc002mnq.2 + 6 1606 c.1287C>G c.(1285-1287)CTC>CTG p.L429L ICAM1_uc010xle.1_Silent_p.L207L|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 429 Extracellular (Potential).|Ig-like C2-type 5. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGCCCGAGCTCAAGTGTCTAA 0.582 NaN 0 0 0 0.016723 0 13 25 EPOR 2057 broad.mit.edu 37 19 11488763 11488763 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:11488763C>T uc002mrj.1 - 8 1560 c.1424G>A c.(1423-1425)GGA>GAA p.G475E EPOR_uc002mrh.2_Missense_Mutation_p.G134E|EPOR_uc002mri.2_Missense_Mutation_p.G302E|EPOR_uc002mrk.1_Missense_Mutation_p.G302E|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Missense_Mutation_p.G302E NM_000121 NP_000112 P19235 EPOR_HUMAN erythropoietin receptor precursor 475 Cytoplasmic (Potential). extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding ovary(1) 1 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CCCTTGGGCTCCCTGGGAGTC 0.592 NaN OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013726 0 32 85 C19orf44 84167 broad.mit.edu 37 19 16614092 16614092 + Missense_Mutation SNP T T G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:16614092T>G uc002neh.1 + 3 1049 c.976T>G c.(976-978)TTA>GTA p.L326V MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L326V|C19orf44_uc002neg.2_Missense_Mutation_p.L326V|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 326 0 CTCAGTGTCTTTAAAGATGGG 0.562 NaN 0 0 0 0.010504 0 21 54 PLVAP 83483 broad.mit.edu 37 19 17476312 17476312 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:17476312G>A uc002ngk.1 - 3 1012 c.962C>T c.(961-963)GCG>GTG p.A321V NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 321 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CTTCTGTTTCGCCTCCTGACT 0.667 NaN 0 0 0 0.009096 0 4 33 ZNF208 7757 broad.mit.edu 37 19 22154750 22154750 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:22154750T>C uc002nqp.2 - 6 2851 c.2702A>G c.(2701-2703)TAC>TGC p.Y901C ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTCACATTTGTAGGGTGTCTC 0.418 NaN 0 0 0 0.01892 0 24 47 MAP4K1 11184 broad.mit.edu 37 19 39106878 39106878 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:39106878G>A uc002oix.1 - 4 378 c.270C>T c.(268-270)TGC>TGT p.C90C MAP4K1_uc002oiy.1_Silent_p.C90C|MAP4K1_uc010xug.1_5'Flank|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 90 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGAATTCCATGCAGATCCAGA 0.488 NaN 0 0 0 0.008291 0 10 24 ZC3H4 23211 broad.mit.edu 37 19 47572355 47572355 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:47572355C>T uc002pga.3 - 14 2430 c.2392G>A c.(2392-2394)GAG>AAG p.E798K ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 798 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GTGCCTTCCTCATTCTCCCGG 0.677 NaN 0 0 0 0.00623 0 38 95 ZNF667 63934 broad.mit.edu 37 19 56953098 56953098 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:56953098C>T uc002qnd.2 - 5 1428 c.1266G>A c.(1264-1266)AAG>AAA p.K422K ZNF667_uc010etl.2_Silent_p.K204K|ZNF667_uc002qne.2_Silent_p.K422K|ZNF667_uc010etm.2_Silent_p.K365K NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 422 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CAGAAAACATCTTCCCACATT 0.343 NaN 0 0 0 0.006214 0 10 19 ZSCAN1 284312 broad.mit.edu 37 19 58564970 58564970 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr19:58564970C>T uc002qrc.1 + 6 1025 c.778C>T c.(778-780)CGC>TGC p.R260C NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 260 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCAGAGCGGCCGCCACCAGCC 0.627 NaN 0 0 0 0.001168 0 6 39 C2orf43 60526 broad.mit.edu 37 2 20901362 20901362 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:20901362C>T uc002rec.2 - 6 787 c.754G>A c.(754-756)GAT>AAT p.D252N C2orf43_uc002rea.1_Missense_Mutation_p.D252N|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Missense_Mutation_p.D122N|C2orf43_uc010ykc.1_Missense_Mutation_p.D204N|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Missense_Mutation_p.D210N|C2orf43_uc010ykf.1_Missense_Mutation_p.D122N NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 252 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTCGTCATCTCTCTTCACC 0.383 NaN 0 0 0 0.013114 0 40 125 C2orf43 60526 broad.mit.edu 37 2 20901369 20901369 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:20901369C>T uc002rec.2 - 6 780 c.747G>A c.(745-747)GTG>GTA p.V249V C2orf43_uc002rea.1_Silent_p.V249V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Silent_p.V119V|C2orf43_uc010ykc.1_Silent_p.V201V|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Silent_p.V207V|C2orf43_uc010ykf.1_Silent_p.V119V NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 249 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCTCTCTTCACCACCTCCA 0.373 NaN 0 0 0 0.011902 0 41 127 NCOA1 8648 broad.mit.edu 37 2 24930108 24930108 + Nonsense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:24930108C>G uc002rfk.2 + 11 2027 c.1769C>G c.(1768-1770)TCA>TGA p.S590* NCOA1_uc010eye.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.S439*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.S590* NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 590 Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGATTGCCTCAATTTTAAAT 0.408 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 0.00308 0 7 46 FAHD2B 151313 broad.mit.edu 37 2 97757424 97757424 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:97757424C>T uc002sxm.2 - 2 171 c.20G>A c.(19-21)AGA>AAA p.R7K NM_199336 NP_955368 Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 7 hydrolase activity|metal ion binding 0 GAGTAATCTTCTTCTACCAGA 0.547 NaN 0 0 0 0.007413 0 20 50 MYO7B 4648 broad.mit.edu 37 2 128393891 128393891 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:128393891G>C uc002top.2 + 44 6090 c.6037G>C c.(6037-6039)GAG>CAG p.E2013Q MYO7B_uc002tos.1_Missense_Mutation_p.E123Q|MYO7B_uc002tot.2_Missense_Mutation_p.E123Q NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 2013 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGCCTTCTTCGAGGTGAAGGT 0.612 NaN 0 0 0 0.008291 0 11 26 LRP1B 53353 broad.mit.edu 37 2 141283479 141283479 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:141283479G>T uc002tvj.1 - 49 8932 c.7960C>A c.(7960-7962)CTG>ATG p.L2654M NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2654 Extracellular (Potential).|LDL-receptor class A 14. LP -> CQ (in Ref. 2; AAL38108). 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) CAGGTTGGCAGAACACACAGT 0.403 NaN TSP Lung(27;0.18) 1 0 3.07112e-06 0.010729 3.19203e-06 12 37 TTN 7273 broad.mit.edu 37 2 179415741 179415741 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:179415741C>A uc010zfg.1 - 285 84037 c.83813G>T c.(83812-83814)AGC>ATC p.S27938I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21633I|TTN_uc010zfi.1_Missense_Mutation_p.S21566I|TTN_uc010zfj.1_Missense_Mutation_p.S21441I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28865 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGGGCGGGCTTATAGTTCC 0.388 NaN 1 0 0.000602214 0.014758 0.00061384 5 20 TTN 7273 broad.mit.edu 37 2 179464145 179464145 + Missense_Mutation SNP A A T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:179464145A>T uc010zfg.1 - 239 48895 c.48671T>A c.(48670-48672)ATA>AAA p.I16224K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919K|TTN_uc010zfi.1_Missense_Mutation_p.I9852K|TTN_uc010zfj.1_Missense_Mutation_p.I9727K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17151 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAAATTTTATGGGTCCCAC 0.363 NaN 0 0 0 0.013537 0 13 35 ZSWIM2 151112 broad.mit.edu 37 2 187713754 187713754 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:187713754C>G uc002upu.1 - 1 144 c.104G>C c.(103-105)CGA>CCA p.R35P NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 35 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GCCCATCTCTCGTAGGAGGTA 0.597 NaN 0 0 0 0.006214 0 10 25 ICA1L 130026 broad.mit.edu 37 2 203653802 203653802 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:203653802C>G uc002uzh.1 - 12 1158 c.994G>C c.(994-996)GAT>CAT p.D332H ICA1L_uc002uzi.1_Missense_Mutation_p.D332H NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 332 0 ACAGGTAGATCTTTTGCAACT 0.323 NaN 0 0 0 0.003163 0 14 39 SGPP2 130367 broad.mit.edu 37 2 223423425 223423425 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:223423425C>G uc010zlo.1 + 5 1008 c.1008C>G c.(1006-1008)CTC>CTG p.L336L SGPP2_uc010zlp.1_Silent_p.L208L NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphotase 2 336 Helical; (Potential). sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|skin(1) 2 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TGTTGATCCTCTTGGTTCGTC 0.473 NaN 0 0 0 0.020292 0 14 52 SCG2 7857 broad.mit.edu 37 2 224463700 224463700 + Missense_Mutation SNP C C G rs137998511 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:224463700C>G uc002vnm.2 - 2 434 c.301G>C c.(301-303)GAG>CAG p.E101Q NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 101 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GAATCCCTCTCGGGCAAGTGG 0.453 NaN 0 0 0 0.021523 0 26 51 UBOX5 22888 broad.mit.edu 37 20 3102035 3102035 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:3102035G>A uc002whw.2 - 3 1420 c.1250C>T c.(1249-1251)TCG>TTG p.S417L uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 417 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 ATTACCTGTCGAGCAGTCCAT 0.527 NaN 0 0 0 0.001168 0 6 43 POFUT1 23509 broad.mit.edu 37 20 30804435 30804435 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:30804435C>T uc002wxp.2 + 4 502 c.453C>T c.(451-453)TTC>TTT p.F151F POFUT1_uc002wxo.2_Silent_p.F151F|POFUT1_uc010ztt.1_Silent_p.F43F|POFUT1_uc010ztu.1_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 151 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TTGGCCCATTCTGGGATCAGT 0.507 NaN 0 0 0 0.010504 0 18 71 EMILIN3 90187 broad.mit.edu 37 20 39990047 39990047 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:39990047C>A uc002xjy.1 - 4 2386 c.2162G>T c.(2161-2163)AGA>ATA p.R721I NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 721 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CAGGCCCTCTCTGGGCCTCAG 0.672 NaN 1 0 4.3838e-07 0.016723 4.61085e-07 14 15 PKIG 11142 broad.mit.edu 37 20 43246949 43246949 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:43246949C>G uc002xmg.2 + 6 704 c.175C>G c.(175-177)CCA>GCA p.P59A PKIG_uc002xmh.2_Missense_Mutation_p.P59A|PKIG_uc002xmi.2_Missense_Mutation_p.P59A NM_181805 NP_861521 Q9Y2B9 IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma 59 cAMP-dependent protein kinase inhibitor activity|protein binding 0 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) GGGAAGCGCCCCAGACAAGGA 0.547 NaN 0 0 0 0.007291 0 29 152 SNX21 90203 broad.mit.edu 37 20 44469809 44469809 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:44469809G>C uc002xpv.1 + 4 1068 c.979G>C c.(979-981)GAG>CAG p.E327Q SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.E138Q|SNX21_uc002xpx.2_Missense_Mutation_p.E317Q|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.E138Q|SNX21_uc002xpz.1_Missense_Mutation_p.E138Q NM_033421 NP_219489 Q969T3 SNX21_HUMAN sorting nexin 21 isoform a 327 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) ACCCTTTCTGGAGGCCCATGT 0.657 NaN 0 0 0 0.010818 0 32 46 SPATA2 9825 broad.mit.edu 37 20 48522407 48522407 + Nonsense_Mutation SNP G G A rs145093250 TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:48522407G>A uc010gie.2 - 3 1662 c.1312C>T c.(1312-1314)CAG>TAG p.Q438* SPATA2_uc002xuw.2_Nonsense_Mutation_p.Q438*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.Q301* NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 438 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TCGAGGCCCTGAGTCTGGCCT 0.662 NaN 0 0 0 0.016723 0 14 52 DIDO1 11083 broad.mit.edu 37 20 61511415 61511415 + Nonsense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:61511415G>A uc002ydr.1 - 16 6157 c.5893C>T c.(5893-5895)CAG>TAG p.Q1965* DIDO1_uc002yds.1_Nonsense_Mutation_p.Q1965* NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1965 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCGAACTGCTGAGGCTGAATG 0.577 NaN 0 0 0 0.01441 0 46 198 DIDO1 11083 broad.mit.edu 37 20 61511882 61511882 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:61511882G>T uc002ydr.1 - 16 5690 c.5426C>A c.(5425-5427)TCC>TAC p.S1809Y DIDO1_uc002yds.1_Missense_Mutation_p.S1809Y NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1809 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CGAGAATAAGGAAGGGATGGG 0.607 NaN 1 0 1.22574e-08 0.014323 1.31543e-08 20 97 DIDO1 11083 broad.mit.edu 37 20 61512446 61512446 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:61512446G>A uc002ydr.1 - 16 5126 c.4862C>T c.(4861-4863)TCG>TTG p.S1621L DIDO1_uc002yds.1_Missense_Mutation_p.S1621L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1621 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTTTCGCCCGAAGCCCAGGG 0.711 NaN 0 0 0 0.001984 0 7 8 DIDO1 11083 broad.mit.edu 37 20 61512978 61512978 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr20:61512978G>A uc002ydr.1 - 16 4594 c.4330C>T c.(4330-4332)CTG>TTG p.L1444L DIDO1_uc002yds.1_Silent_p.L1444L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1444 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTGTTGGGCAGGTCATCAACA 0.617 NaN 0 0 0 0.009535 0 30 109 DEPDC5 9681 broad.mit.edu 37 22 32174116 32174116 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr22:32174116G>A uc003als.2 + 8 587 c.445G>A c.(445-447)GAG>AAG p.E149K DEPDC5_uc011als.1_Missense_Mutation_p.E149K|DEPDC5_uc011alu.1_Missense_Mutation_p.E149K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E149K|DEPDC5_uc003alr.1_Missense_Mutation_p.E149K|DEPDC5_uc011alt.1_Missense_Mutation_p.E121K NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 149 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GGTTAAGAATGAGAAGGTCAT 0.333 NaN 0 0 0 0.010818 0 30 65 MGAT3 4248 broad.mit.edu 37 22 39883792 39883792 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr22:39883792G>A uc003axv.3 + 2 679 c.440G>A c.(439-441)CGG>CAG p.R147Q MGAT3_uc010gxy.2_Missense_Mutation_p.R147Q NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 147 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) TCGGCCCGGCGGCCACCCCGG 0.766 NaN 0 0 0 0.004672 0 3 0 SRGAP3 9901 broad.mit.edu 37 3 9146379 9146379 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:9146379G>A uc003brf.1 - 3 1084 c.408C>T c.(406-408)ATC>ATT p.I136I SRGAP3_uc003brg.1_Silent_p.I136I|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Silent_p.I136I NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 136 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TGAAGAGTCTGATGACATCCT 0.552 NaN T RAF1 pilocytic astrocytoma 0 0 0 0.00632 0 28 65 GALNTL2 117248 broad.mit.edu 37 3 16254202 16254202 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:16254202G>A uc003car.3 + 6 1799 c.1324G>A c.(1324-1326)GAG>AAG p.E442K GALNTL2_uc003caq.3_Missense_Mutation_p.E175K NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 442 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 TCGCATTGCTGAGACCTGGCT 0.547 NaN 0 0 0 0.003163 0 13 52 EPM2AIP1 9852 broad.mit.edu 37 3 37033451 37033451 + Nonsense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:37033451G>C uc003cgk.2 - 1 1345 c.1118C>G c.(1117-1119)TCA>TGA p.S373* MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 373 endoplasmic reticulum 0 TTGTTTGTCTGAGAAGTGGAC 0.398 NaN 0 0 0 0.01441 0 54 124 NKTR 4820 broad.mit.edu 37 3 42680225 42680225 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:42680225G>A uc003clo.2 + 13 3176 c.3029G>A c.(3028-3030)CGA>CAA p.R1010Q NKTR_uc003clm.1_Missense_Mutation_p.R757Q|NKTR_uc003clp.2_Missense_Mutation_p.R757Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R900Q|NKTR_uc003clr.1_Missense_Mutation_p.R757Q|NKTR_uc003cls.2_Missense_Mutation_p.R710Q NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1010 Arg/Lys-rich (basic). protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GCTCCAAAACGAAAGCAAGCA 0.383 NaN 0 0 0 0.010729 0 10 42 ZNF445 353274 broad.mit.edu 37 3 44497015 44497015 + Silent SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:44497015G>T uc003cnf.2 - 3 375 c.27C>A c.(25-27)GCC>GCA p.A9A ZNF445_uc011azv.1_Silent_p.A9A|ZNF445_uc011azw.1_Silent_p.A9A NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 9 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GAGCTGGATAGGCAGCATGCC 0.557 NaN 1 0 2.17888e-05 0.006214 2.24697e-05 10 47 C3orf62 375341 broad.mit.edu 37 3 49308828 49308828 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:49308828C>G uc003cwn.2 - 3 792 c.589G>C c.(589-591)GAA>CAA p.E197Q C3orf62_uc003cwm.2_Missense_Mutation_p.E46Q|hsa-mir-4271|MI0015879_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 197 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AATTCGTTTTCAAATTCTATT 0.423 NaN 0 0 0 0.008291 0 11 55 AMIGO3 386724 broad.mit.edu 37 3 49756821 49756821 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:49756821G>T uc003cxj.2 - 1 418 c.78C>A c.(76-78)TTC>TTA p.F26L RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 26 Extracellular (Potential).|LRRNT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CACGGGGCGGGAAACCCTCGG 0.642 NaN OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 9.31168e-06 0.016723 9.64033e-06 13 37 DOCK3 1795 broad.mit.edu 37 3 51317569 51317569 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:51317569C>T uc011bds.1 + 27 2879 c.2856C>T c.(2854-2856)CTC>CTT p.L952L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 952 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCTCACTGCTCCGCCAGATGT 0.517 NaN 0 0 0 0.009096 0 3 25 DNAH1 25981 broad.mit.edu 37 3 52398976 52398976 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:52398976G>A uc011bef.1 + 34 5720 c.5459G>A c.(5458-5460)GGC>GAC p.G1820D NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1820 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACGGACTACGGCATCCTGGAT 0.607 NaN 0 0 0 0.004007 0 14 63 TFG 10342 broad.mit.edu 37 3 100467340 100467340 + Nonsense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:100467340C>T uc003due.2 + 8 1617 c.1168C>T c.(1168-1170)CAG>TAG p.Q390* TFG_uc003duf.2_Nonsense_Mutation_p.Q390*|TFG_uc003dug.2_Nonsense_Mutation_p.Q386*|TFG_uc003duh.2_Nonsense_Mutation_p.Q386*|TFG_uc003dui.2_Nonsense_Mutation_p.Q390* NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 390 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 TCCCTTTGGTCAGGGCTATAC 0.498 NaN T NTRK1|ALK papillary thyroid|ALCL|NSCLC 0 0 0 0.013537 0 11 48 CBLB 868 broad.mit.edu 37 3 105459361 105459361 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:105459361C>G uc003dwc.2 - 7 1282 c.960G>C c.(958-960)CTG>CTC p.L320L CBLB_uc011bhi.1_Silent_p.L342L|CBLB_uc003dwd.1_Silent_p.L320L|CBLB_uc003dwe.1_Silent_p.L320L|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 320 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TGCCATCAATCAGGGCTTGAA 0.418 NaN Mis S AML 0 0 0 0.012319 0 20 50 DPPA4 55211 broad.mit.edu 37 3 109056349 109056349 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:109056349C>T uc003dxq.3 - 1 71 c.16G>A c.(16-18)GCT>ACT p.A6T DPPA4_uc011bho.1_Missense_Mutation_p.A6T|DPPA4_uc011bhp.1_Missense_Mutation_p.A6T NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 6 nucleus protein binding upper_aerodigestive_tract(1) 1 GTAGAAGAAGCGGAGCCTCGC 0.493 NaN 0 0 0 0.004482 0 9 32 POLQ 10721 broad.mit.edu 37 3 121228970 121228970 + Nonsense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:121228970G>A uc003eee.3 - 11 1861 c.1732C>T c.(1732-1734)CAG>TAG p.Q578* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 578 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GCTCCAAGCTGAACAGACTCT 0.428 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.012319 0 23 62 PLCH1 23007 broad.mit.edu 37 3 155199036 155199036 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:155199036C>T uc011bok.1 - 23 5080 c.4803G>A c.(4801-4803)AAG>AAA p.K1601K PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.K1563K NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1601 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAACTTTCTGCTTGTTGGCTT 0.547 NaN 0 0 0 0.004656 0 28 52 PLCH1 23007 broad.mit.edu 37 3 155199541 155199541 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:155199541G>C uc011bok.1 - 23 4575 c.4298C>G c.(4297-4299)TCT>TGT p.S1433C PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1395C NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1433 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGCTAGATAAGAAATACTTTG 0.413 NaN 0 0 0 0.004656 0 28 46 ACTL6A 86 broad.mit.edu 37 3 179294032 179294032 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:179294032G>A uc003fjw.2 + 6 677 c.504G>A c.(502-504)CTG>CTA p.L168L ACTL6A_uc003fjx.2_Silent_p.L126L|ACTL6A_uc003fjy.2_Silent_p.L126L NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 168 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) CTACTGGGCTGATTTTGGACA 0.398 NaN 0 0 0 0.004007 0 13 26 ACTL6A 86 broad.mit.edu 37 3 179294656 179294656 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:179294656G>C uc003fjw.2 + 8 896 c.723G>C c.(721-723)GAG>GAC p.E241D ACTL6A_uc003fjx.2_Missense_Mutation_p.E199D|ACTL6A_uc003fjy.2_Missense_Mutation_p.E199D NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 241 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AAAGAAAAGAGAAGTTGCCTC 0.418 NaN 0 0 0 0.00632 0 28 54 RTP1 132112 broad.mit.edu 37 3 186917517 186917517 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr3:186917517G>A uc003frg.2 + 2 481 c.451G>A c.(451-453)GAG>AAG p.E151K NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 151 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GGAGAACATCGAGGGCCTGGT 0.682 NaN 0 0 0 0.014758 0 5 31 SH3TC1 54436 broad.mit.edu 37 4 8214432 8214432 + Silent SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:8214432G>C uc003gkv.3 + 4 353 c.252G>C c.(250-252)CTG>CTC p.L84L SH3TC1_uc003gkw.3_Silent_p.L8L|SH3TC1_uc003gkx.3_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 84 binding large_intestine(2)|pancreas(1) 3 CTCCAGACCTGACCCTGCAGC 0.662 NaN 0 0 0 0.001984 0 7 23 LIN54 132660 broad.mit.edu 37 4 83858433 83858433 + Silent SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:83858433C>G uc003hnx.3 - 9 1929 c.1551G>C c.(1549-1551)TCG>TCC p.S517S LIN54_uc003hnz.3_Silent_p.S296S|LIN54_uc003hny.3_Silent_p.S116S|LIN54_uc010ijt.2_Silent_p.S428S|LIN54_uc010iju.2_Silent_p.S116S|LIN54_uc010ijv.2_Silent_p.S296S NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 517 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) GCCGACTGGCCGACTCTGATG 0.303 NaN 0 0 0 0.006214 0 10 69 GPRIN3 285513 broad.mit.edu 37 4 90170794 90170794 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:90170794C>T uc003hsm.1 - 2 987 c.468G>A c.(466-468)ATG>ATA p.M156I NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 156 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCTGTGATCTCATCAGGGAAT 0.517 NaN 0 0 0 0.004656 0 28 63 LEF1 51176 broad.mit.edu 37 4 108999479 108999479 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:108999479G>A uc003hyt.1 - 8 1560 c.905C>T c.(904-906)CCT>CTT p.P302L LEF1_uc011cfj.1_Missense_Mutation_p.P159L|LEF1_uc011cfk.1_Missense_Mutation_p.P206L|LEF1_uc003hyu.1_Missense_Mutation_p.P274L|LEF1_uc003hyv.1_Missense_Mutation_p.P274L|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 302 HMG box. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) AGCATTCAGAGGCTTCTTAAT 0.443 NaN 0 0 0 0.01441 0 72 166 LEF1 51176 broad.mit.edu 37 4 109084785 109084785 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:109084785G>C uc003hyt.1 - 3 1008 c.353C>G c.(352-354)CCA>CGA p.P118R LEF1_uc011cfj.1_Missense_Mutation_p.P3R|LEF1_uc011cfk.1_Missense_Mutation_p.P50R|LEF1_uc003hyu.1_Missense_Mutation_p.P118R|LEF1_uc003hyv.1_Missense_Mutation_p.P118R|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 118 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) ATTCATATTTGGCATCATTAT 0.428 NaN 0 0 0 0.012319 0 22 70 ANP32C 23520 broad.mit.edu 37 4 165118848 165118848 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:165118848G>A uc011cjk.1 - 1 16 c.16C>T c.(16-18)CGG>TGG p.R6W MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 6 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GAATGAATCCGTCTGCCCATC 0.552 NaN 0 0 0 0.006999 0 38 87 SLC6A19 340024 broad.mit.edu 37 5 1219057 1219057 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:1219057G>A uc003jbw.3 + 9 1269 c.1213G>A c.(1213-1215)GAG>AAG p.E405K NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 405 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGTCTTCACCGAGGCCATCAC 0.607 NaN 0 0 0 0.008871 0 19 36 CTNND2 1501 broad.mit.edu 37 5 11117566 11117566 + Missense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:11117566C>A uc003jfa.1 - 13 2418 c.2273G>T c.(2272-2274)AGC>ATC p.S758I CTNND2_uc010itt.2_Missense_Mutation_p.S667I|CTNND2_uc011cmy.1_Missense_Mutation_p.S421I|CTNND2_uc011cmz.1_Missense_Mutation_p.S325I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S325I NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 758 ARM 6. 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 ACCAACCTTGCTATCGATCTC 0.512 NaN 1 0 2.12542e-12 0.00632 2.29963e-12 29 87 ADAMTS12 81792 broad.mit.edu 37 5 33588796 33588796 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:33588796C>T uc003jia.1 - 18 2936 c.2773G>A c.(2773-2775)GAC>AAC p.D925N ADAMTS12_uc010iuq.1_Missense_Mutation_p.D840N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 925 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGCTGGCAGTCTGTGGGCGGG 0.627 NaN HNSCC(64;0.19) 0 0 0 0.00632 0 29 77 RICTOR 253260 broad.mit.edu 37 5 38955780 38955780 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:38955780C>T uc003jlp.2 - 26 2550 c.2526G>A c.(2524-2526)TTG>TTA p.L842L RICTOR_uc003jlo.2_Silent_p.L842L|RICTOR_uc010ivf.2_Silent_p.L557L NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 842 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GTTCCTCAATCAAGTCAACAT 0.358 NaN 0 0 0 0.013537 0 12 54 PDE4D 5144 broad.mit.edu 37 5 58270810 58270810 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:58270810T>C uc003jsa.2 - 15 2283 c.2111A>G c.(2110-2112)AAT>AGT p.N704S PDE4D_uc003jrx.2_Missense_Mutation_p.N568S|PDE4D_uc003jry.2_Missense_Mutation_p.N402S|PDE4D_uc003jrz.2_Missense_Mutation_p.N640S|PDE4D_uc003jsb.2_Missense_Mutation_p.N643S|PDE4D_uc003jrt.2_Missense_Mutation_p.N402S|PDE4D_uc003jru.2_Missense_Mutation_p.N480S|PDE4D_uc003jrv.2_Missense_Mutation_p.N574S|PDE4D_uc003jrw.2_Missense_Mutation_p.N582S|PDE4D_uc003jrs.2_Missense_Mutation_p.N413S NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 704 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CCATTCACGATTGTCCTCCAA 0.532 NaN 0 0 0 0.00308 0 8 27 FER 2241 broad.mit.edu 37 5 108290634 108290634 + Splice_Site SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:108290634G>A uc003kop.1 + 12 1917 c.1533_splice c.e12+1 p.D511_splice FER_uc011cvf.1_Intron|FER_uc011cvg.1_Splice_Site_p.D336_splice NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATATGTTGATGTACGTTTCCA 0.343 NaN 0 0 0 0.021523 0 24 48 PCDHB1 29930 broad.mit.edu 37 5 140432632 140432632 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:140432632A>G uc003lik.1 + 1 1654 c.1577A>G c.(1576-1578)CAA>CGA p.Q526R NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 526 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCCATTCAAGATTTTCAA 0.438 NaN 0 0 0 0.010729 0 12 39 PCDHGA11 56105 broad.mit.edu 37 5 140801665 140801665 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:140801665G>A uc003lkq.1 + 1 1129 c.871G>A c.(871-873)GAA>AAA p.E291K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.E291K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.E291K NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 291 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGGCTTCTGAAATATTCCA 0.428 NaN 0 0 0 0.010771 0 38 92 DIAPH1 1729 broad.mit.edu 37 5 140960344 140960344 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:140960344G>C uc003llb.3 - 8 932 c.791C>G c.(790-792)TCT>TGT p.S264C DIAPH1_uc003llc.3_Missense_Mutation_p.S255C NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 264 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAAGAGCAGAAAGCAGCTT 0.418 NaN 0 0 0 0.003163 0 15 55 RARS 5917 broad.mit.edu 37 5 167933745 167933745 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:167933745A>G uc003lzx.2 + 11 1296 c.1255A>G c.(1255-1257)ATA>GTA p.I419V RARS_uc011deo.1_Missense_Mutation_p.I213V NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 419 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) CTTCCAGACAATATTTGCTGC 0.398 NaN 0 0 0 0.01892 0 24 30 SH3PXD2B 285590 broad.mit.edu 37 5 171773245 171773245 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:171773245C>T uc003mbr.2 - 12 1254 c.1083G>A c.(1081-1083)CCG>CCA p.P361P NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 361 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCGGCTTCGGCAGGTTGA 0.597 NaN 0 0 0 0.019004 0 34 68 NHLRC1 378884 broad.mit.edu 37 6 18122075 18122075 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:18122075C>T uc003ncl.1 - 1 777 c.763G>A c.(763-765)GAA>AAA p.E255K NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 255 NHL 4. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TGCAACCTTTCAGTTCTCCGA 0.632 NaN 0 0 0 0.006214 0 9 23 SCAND3 114821 broad.mit.edu 37 6 28542657 28542657 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:28542657C>G uc003nlo.2 - 3 2443 c.1825G>C c.(1825-1827)GAA>CAA p.E609Q NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 609 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCTGTGCATTCTTTTTCACAA 0.413 NaN 0 0 0 0.006214 0 10 18 TNXB 7148 broad.mit.edu 37 6 32014154 32014155 + Nonsense_Mutation DNP GG GG TT TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:32014154_32014155GG>TT uc003nzl.2 - 31 10599_10600 c.10397_10398CC>AA c.(10396-10398)TCC>TAA p.S3466* TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_Translation_Start_Site NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3513 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTACCGTCCAGGACAGGCGCAG 0.663 NaN 0 0 0 0.004672 0 16 23 FKBP5 2289 broad.mit.edu 37 6 35543683 35543683 + Nonsense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:35543683C>A uc011dte.1 - 11 1506 c.1303G>T c.(1303-1305)GAA>TAA p.E435* FKBP5_uc003okx.2_Nonsense_Mutation_p.E435*|FKBP5_uc011dtf.1_Nonsense_Mutation_p.E256*|FKBP5_uc003oky.2_Nonsense_Mutation_p.E435* NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 435 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 GTGACCCCTTCTGAAGTCTTC 0.448 NaN 1 0 1.86633e-21 0.01441 2.036e-21 48 160 LRFN2 57497 broad.mit.edu 37 6 40360393 40360393 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:40360393G>A uc003oph.1 - 3 2124 c.1659C>T c.(1657-1659)CTC>CTT p.L553L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 553 Helical; (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCGCACCATGAGGATGACGA 0.632 NaN 0 0 0 0.008291 0 11 22 TRERF1 55809 broad.mit.edu 37 6 42224510 42224510 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:42224510C>T uc003osd.2 - 12 3099 c.2536G>A c.(2536-2538)GAA>AAA p.E846K TRERF1_uc011duq.1_Missense_Mutation_p.E763K|TRERF1_uc003osb.2_Missense_Mutation_p.E602K|TRERF1_uc003osc.2_Missense_Mutation_p.E602K|TRERF1_uc003ose.2_Missense_Mutation_p.E866K NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 846 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AAAGCAAATTCAGAATTGGTC 0.438 NaN 0 0 0 0.00499 0 15 43 PKHD1 5314 broad.mit.edu 37 6 51768474 51768474 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:51768474G>A uc003pah.1 - 43 7193 c.6917C>T c.(6916-6918)TCT>TTT p.S2306F PKHD1_uc010jzn.1_Missense_Mutation_p.S289F|PKHD1_uc003pai.2_Missense_Mutation_p.S2306F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2306 PbH1 3.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTCGGCACCAGAAACCTGGAT 0.413 NaN 0 0 0 0.016522 0 23 67 BACH2 60468 broad.mit.edu 37 6 90642373 90642373 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:90642373G>A uc011eab.1 - 9 3089 c.2280C>T c.(2278-2280)TGC>TGT p.C760C BACH2_uc003pnw.2_Silent_p.C760C NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 760 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCCCCACTGCGCATTGGGAGG 0.637 NaN 0 0 0 0.013537 0 11 34 RBM16 22828 broad.mit.edu 37 6 155153375 155153375 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:155153375C>G uc003qqa.2 + 21 2894 c.2662C>G c.(2662-2664)CCA>GCA p.P888A TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P954A|RBM16_uc011efk.1_Missense_Mutation_p.P933A|RBM16_uc003qpz.2_Missense_Mutation_p.P888A|RBM16_uc010kji.2_Intron NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 888 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) AGTACAGCCACCAAATGTTCC 0.458 NaN 0 0 0 0.010818 0 33 42 RBM16 22828 broad.mit.edu 37 6 155153393 155153393 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr6:155153393C>G uc003qqa.2 + 21 2912 c.2680C>G c.(2680-2682)CCT>GCT p.P894A TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P960A|RBM16_uc011efk.1_Missense_Mutation_p.P939A|RBM16_uc003qpz.2_Missense_Mutation_p.P894A|RBM16_uc010kji.2_Intron NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 894 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) TCCAAATACTCCTGGACTTCT 0.453 NaN 0 0 0 0.013726 0 34 47 MIOS 54468 broad.mit.edu 37 7 7612191 7612191 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:7612191C>G uc003srf.2 + 4 393 c.85C>G c.(85-87)CAT>GAT p.H29D MIOS_uc010ktp.1_Missense_Mutation_p.H29D NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 29 0 AAGTCTTTATCATGTGGAATC 0.383 NaN 0 0 0 0.004482 0 9 28 GLI3 2737 broad.mit.edu 37 7 42005908 42005908 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:42005908G>A uc011kbh.1 - 15 2854 c.2763C>T c.(2761-2763)CTC>CTT p.L921L GLI3_uc011kbg.1_Silent_p.L862L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 921 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGGCGGGCGTGAGGCTGAGCA 0.701 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 0 0 0 0.006214 0 9 23 ASL 435 broad.mit.edu 37 7 65553815 65553815 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:65553815C>T uc003tuo.2 + 11 851 c.740C>T c.(739-741)TCG>TTG p.S247L ASL_uc003tup.2_Missense_Mutation_p.S247L|ASL_uc003tur.2_Missense_Mutation_p.S221L|ASL_uc003tuq.2_Missense_Mutation_p.S247L NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 247 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) TTCTGGGCTTCGCTGTGCATG 0.587 NaN 0 0 0 0.004482 0 8 34 FZD9 8326 broad.mit.edu 37 7 72849364 72849364 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:72849364G>A uc003tyb.2 + 1 1256 c.1027G>A c.(1027-1029)GGG>AGG p.G343R NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 343 Cytoplasmic (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CCTGGCTGCCGGGAAGAAATG 0.637 NaN 0 0 0 0.006214 0 10 47 CLIP2 7461 broad.mit.edu 37 7 73771712 73771712 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:73771712G>A uc003uam.2 + 6 1447 c.1120G>A c.(1120-1122)GAA>AAA p.E374K CLIP2_uc003uan.2_Missense_Mutation_p.E374K NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 374 Potential. microtubule associated complex skin(3) 3 GCTGCTGGCTGAACGAGACCT 0.612 NaN 0 0 0 0.001984 0 6 9 CLIP2 7461 broad.mit.edu 37 7 73811473 73811473 + Silent SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:73811473G>C uc003uam.2 + 14 3117 c.2790G>C c.(2788-2790)CTG>CTC p.L930L CLIP2_uc003uan.2_Silent_p.L895L NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 930 Potential. microtubule associated complex skin(3) 3 AGAGGGACCTGAGCCGTGAGG 0.627 NaN 0 0 0 0.010729 0 11 28 ZC3HAV1L 92092 broad.mit.edu 37 7 138711457 138711457 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:138711457G>A uc003vum.1 - 4 895 c.883C>T c.(883-885)CCA>TCA p.P295S NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 295 0 GGTTTACCTGGGCAGGGCTTC 0.502 NaN 0 0 0 0.014758 0 5 93 CUL1 8454 broad.mit.edu 37 7 148487405 148487405 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr7:148487405G>A uc010lpg.2 + 16 2204 c.1678G>A c.(1678-1680)GAA>AAA p.E560K CUL1_uc003wey.2_Missense_Mutation_p.E560K|CUL1_uc003wez.2_Missense_Mutation_p.E450K|CUL1_uc003wfa.2_Missense_Mutation_p.E221K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 560 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TATCTAGTTGGAACGTAGTTA 0.428 NaN 0 0 0 0.007413 0 14 35 CSMD1 64478 broad.mit.edu 37 8 3000065 3000065 + Missense_Mutation SNP T T C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:3000065T>C uc011kwk.1 - 41 6556 c.6166A>G c.(6166-6168)AGC>GGC p.S2056G CSMD1_uc011kwj.1_Missense_Mutation_p.S1448G|CSMD1_uc010lrg.2_Missense_Mutation_p.S124G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2056 Extracellular (Potential).|CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCGTTGTGCTCAGCAGGGCC 0.478 NaN 0 0 0 0.001168 0 6 36 SCARA3 51435 broad.mit.edu 37 8 27507313 27507313 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:27507313G>C uc003xga.1 + 2 243 c.102G>C c.(100-102)CAG>CAC p.Q34H SCARA3_uc003xgb.1_Missense_Mutation_p.Q34H NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 34 Cytoplasmic (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) CATGCACCCAGAAGGGTAAGG 0.592 NaN 0 0 0 0.00308 0 8 17 PURG 29942 broad.mit.edu 37 8 30890034 30890034 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:30890034C>T uc003xin.2 - 1 284 c.265G>A c.(265-267)GAA>AAA p.E89K WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E89K NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 89 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) ATCCAGACTTCGGCTATCTTT 0.542 NaN 0 0 0 0.003163 0 16 27 GOT1L1 137362 broad.mit.edu 37 8 37791899 37791899 + Missense_Mutation SNP T T A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:37791899T>A uc011lbj.1 - 9 1278 c.1178A>T c.(1177-1179)GAG>GTG p.E393V NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 393 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) ATTGATGCCCTCAGTGATGTA 0.408 NaN 0 0 0 0.009718 0 42 86 POTEA 340441 broad.mit.edu 37 8 43197470 43197470 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:43197470C>T uc003xpz.1 + 11 1402 c.1359C>T c.(1357-1359)AAC>AAT p.N453N POTEA_uc003xqa.1_Silent_p.N407N NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 453 ovary(1) 1 TGGATTTTAACGGTAGGACCA 0.373 NaN 0 0 0 0.004656 0 21 35 NPBWR1 2831 broad.mit.edu 37 8 53853373 53853373 + Silent SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:53853373C>T uc011ldu.1 + 1 906 c.906C>T c.(904-906)CTC>CTT p.L302L NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 302 Cytoplasmic (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) ACAGCTGCCTCAACCCCTTCC 0.652 NaN 0 0 0 0.016723 0 11 24 ANKRD46 157567 broad.mit.edu 37 8 101540176 101540176 + Missense_Mutation SNP C C G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:101540176C>G uc003yjm.2 - 4 571 c.367G>C c.(367-369)GAT>CAT p.D123H ANKRD46_uc003yjn.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjo.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjp.1_Missense_Mutation_p.D123H NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 123 ANK 4. integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) CGGATGACATCTTTATTTACT 0.383 NaN 0 0 0 0.01892 0 22 67 CSMD3 114788 broad.mit.edu 37 8 113358422 113358422 + Missense_Mutation SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr8:113358422A>G uc003ynu.2 - 41 6505 c.6346T>C c.(6346-6348)TCA>CCA p.S2116P CSMD3_uc003yns.2_Missense_Mutation_p.S1318P|CSMD3_uc003ynt.2_Missense_Mutation_p.S2076P|CSMD3_uc011lhx.1_Missense_Mutation_p.S2012P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2116 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGAAGTCTGACATAGCACCA 0.373 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.004007 0 15 43 C9orf23 138716 broad.mit.edu 37 9 34611268 34611268 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:34611268G>A uc003zuu.2 - 2 307 c.26C>T c.(25-27)TCT>TTT p.S9F C9orf23_uc003zuv.2_Missense_Mutation_p.S9F NM_148179 NP_680545 Q8N5L8 CI023_HUMAN hypothetical protein LOC138716 9 nucleic acid binding 0 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0385) GAGCTCTACAGAGCCAGCTTT 0.577 NaN 0 0 0 0.001168 0 5 14 OR1N2 138882 broad.mit.edu 37 9 125316096 125316096 + Silent SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:125316096C>A uc011lyx.1 + 1 648 c.648C>A c.(646-648)ATC>ATA p.I216I NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 AGCTGATGATCATCACCATGG 0.502 NaN 1 0 4.67007e-22 0.00874 5.11576e-22 32 63 RABEPK 10244 broad.mit.edu 37 9 127996161 127996161 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:127996161G>A uc004bpi.2 + 9 1194 c.1021G>A c.(1021-1023)GAG>AAG p.E341K RABEPK_uc004bpj.2_Missense_Mutation_p.E290K|RABEPK_uc004bpk.2_Missense_Mutation_p.E341K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E341K NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 341 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TGACTCACATGAGGAAAGCCA 0.438 NaN 0 0 0 0.009535 0 32 65 RABEPK 10244 broad.mit.edu 37 9 127996208 127996208 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:127996208G>A uc004bpi.2 + 9 1241 c.1068G>A c.(1066-1068)ATG>ATA p.M356I RABEPK_uc004bpj.2_Missense_Mutation_p.M305I|RABEPK_uc004bpk.2_Missense_Mutation_p.M356I|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.M356I NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 356 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TTGGTGGGATGAATACAGAAG 0.408 NaN 0 0 0 0.007835 0 37 85 RABEPK 10244 broad.mit.edu 37 9 127996215 127996215 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:127996215G>A uc004bpi.2 + 9 1248 c.1075G>A c.(1075-1077)GAA>AAA p.E359K RABEPK_uc004bpj.2_Missense_Mutation_p.E308K|RABEPK_uc004bpk.2_Missense_Mutation_p.E359K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E359K NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 359 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 GATGAATACAGAAGGGGAAAT 0.398 NaN 0 0 0 0.007835 0 36 86 CRAT 1384 broad.mit.edu 37 9 131870096 131870096 + Missense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:131870096G>C uc004bxh.2 - 2 570 c.288C>G c.(286-288)AAC>AAG p.N96K CRAT_uc004bxg.2_Missense_Mutation_p.N75K|CRAT_uc004bxk.3_Missense_Mutation_p.N75K|CRAT_uc004bxj.2_Missense_Mutation_p.N97K NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 96 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CACTCACCCAGTTCTCCGTCT 0.637 NaN 0 0 0 0.008291 0 9 13 ABL1 25 broad.mit.edu 37 9 133589745 133589745 + Silent SNP A A G TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:133589745A>G uc004bzv.2 + 1 478 c.39A>G c.(37-39)AGA>AGG p.R13R NM_007313 NP_009297 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase Error:Variant_position_missing_in_P00519_after_alignment actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GGGACCAAAGAAGGCCAAGCT 0.498 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 0.010504 0 21 21 PTCHD1 139411 broad.mit.edu 37 X 23398359 23398359 + Missense_Mutation SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:23398359G>A uc004dal.3 + 2 1011 c.1003G>A c.(1003-1005)GTC>ATC p.V335I PTCHD1_uc010nfu.1_Missense_Mutation_p.V335I NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 335 Helical; (Potential).|SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AGTCCCTTTCGTCATGCTAGG 0.483 NaN 0 0 0 0.013537 0 10 83 RBM10 8241 broad.mit.edu 37 X 47044531 47044531 + Silent SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:47044531C>A uc004dhf.2 + 18 2407 c.2028C>A c.(2026-2028)ATC>ATA p.I676I RBM10_uc004dhg.2_Silent_p.I598I|RBM10_uc004dhh.2_Silent_p.I675I|RBM10_uc010nhq.2_Silent_p.I599I|RBM10_uc004dhi.2_Silent_p.I741I NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 676 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 TCCAGCCTATCAGCTCCCTGC 0.567 NaN 1 0 3.27435e-08 0.020292 3.49971e-08 13 26 CFP 5199 broad.mit.edu 37 X 47485822 47485822 + Missense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:47485822C>T uc004dig.3 - 7 1163 c.1037G>A c.(1036-1038)CGC>CAC p.R346H CFP_uc004dih.2_Missense_Mutation_p.R346H|CFP_uc004dii.1_Missense_Mutation_p.R282H|CFP_uc010nhu.2_Missense_Mutation_p.R346H NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 346 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 GGTCCTCCCGCGTGACTGCTG 0.622 NaN 0 0 0 0.020292 0 12 23 SMC1A 8243 broad.mit.edu 37 X 53436094 53436094 + Nonsense_Mutation SNP C C A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:53436094C>A uc004dsg.2 - 9 1513 c.1444G>T c.(1444-1446)GAG>TAG p.E482* SMC1A_uc011moe.1_Nonsense_Mutation_p.E460*|SMC1A_uc011mof.1_Nonsense_Mutation_p.E248* NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 482 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CCTAGCTGCTCCATCACCTGG 0.562 NaN 1 0 2.27111e-07 0.013537 2.40792e-07 13 37 PHF8 23133 broad.mit.edu 37 X 54022189 54022189 + Silent SNP G G A TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:54022189G>A uc004dsu.2 - 12 1441 c.1368C>T c.(1366-1368)ATC>ATT p.I456I PHF8_uc004dst.2_Silent_p.I420I|PHF8_uc004dsv.2_Silent_p.I286I|PHF8_uc004dsw.2_Silent_p.I420I|PHF8_uc004dsx.2_Silent_p.I184I|PHF8_uc004dsy.2_Silent_p.I420I NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 456 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 CTGTCTCCGGGATCTCATCCT 0.393 NaN 0 0 0 0.001984 0 7 20 ZMYM3 9203 broad.mit.edu 37 X 70470474 70470474 + Nonsense_Mutation SNP G G C TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chrX:70470474G>C uc004dzh.1 - 5 968 c.881C>G c.(880-882)TCA>TGA p.S294* BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.S294*|ZMYM3_uc011mpu.1_Nonsense_Mutation_p.S25*|ZMYM3_uc004dzk.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzl.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzm.3_Nonsense_Mutation_p.S294* NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 294 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TGACACACTTGAGCGTAGGGA 0.587 NaN 0 0 0 0.014758 0 5 15 TXNIP 10628 broad.mit.edu 37 1 145438899 145438900 + Frame_Shift_Ins INS - - T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr1:145438899_145438900insT uc001enn.3 + 1 438_439 c.97_98insT c.(97-99)GTGfs p.V33fs NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 33 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCGGGTGATAGTGGAGGTGTGT 0.515 NaN NaN NaN NaN NaN NaN 7 31 --- --- RAB3IL1 5866 broad.mit.edu 37 11 61675683 61675683 + Frame_Shift_Del DEL G G - TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr11:61675683delG uc001nso.2 - 2 265 c.107delC c.(106-108)CCAfs p.P36fs RAB3IL1_uc001nsp.2_Frame_Shift_Del_p.P83fs NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 36 protein binding skin(2)|central_nervous_system(1) 3 CAGGGCTCCTGGGGACTCCCT 0.721 NaN NaN NaN NaN NaN NaN 2 4 --- --- PAN2 9924 broad.mit.edu 37 12 56720730 56720730 + Frame_Shift_Del DEL G G - TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr12:56720730delG uc001skx.2 - 7 1306 c.933delC c.(931-933)TTCfs p.F311fs PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Frame_Shift_Del_p.F311fs|PAN2_uc001sky.2_Frame_Shift_Del_p.F311fs NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 311 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 TGGGTTCACAGAATTGGCACT 0.512 NaN NaN NaN NaN NaN NaN 17 44 --- --- GTF3A 2971 broad.mit.edu 37 13 28006890 28006890 + Frame_Shift_Del DEL A A - TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr13:28006890delA uc001ure.2 + 5 705 c.511delA c.(511-513)AAAfs p.K171fs GTF3A_uc001urf.2_Intron|GTF3A_uc001urg.2_RNA NM_002097 NP_002088 Q92664 TF3A_HUMAN transcription factor IIIA 171 C2H2-type 5. regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding 0 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) AGGATGTGGGAAACACTTTGC 0.532 NaN NaN NaN NaN NaN NaN 3 5 --- --- B3GNT2 10678 broad.mit.edu 37 2 62449660 62449673 + Frame_Shift_Del DEL TCACGTCGGTGGTT TCACGTCGGTGGTT - rs72893877 byFrequency TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr2:62449660_62449673delTCACGTCGGTGGTT uc002sbs.2 + 2 543_556 c.305_318delTCACGTCGGTGGTT c.(304-318)GTCACGTCGGTGGTTfs p.V102fs NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 102_106 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) GACCTGAGGGTCACGTCGGTGGTTACGGGTTTTA 0.5 NaN NaN NaN NaN NaN NaN 21 332 --- --- CENPC1 1060 broad.mit.edu 37 4 68358626 68358627 + Frame_Shift_Ins INS - - T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr4:68358626_68358627insT uc003hdd.1 - 15 2562_2563 c.2379_2380insA c.(2377-2382)AAATCTfs p.K793fs CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihl.2_5'UTR NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 793_794 Nuclear localization signal (Potential). mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 TTCTTATTAGATTTTTTGTTGA 0.297 NaN NaN NaN NaN NaN NaN 2 4 --- --- C5orf45 51149 broad.mit.edu 37 5 179264671 179264700 + In_Frame_Del DEL TGAAGAGACCTTGGCTGCTCACTGTCCACA TGAAGAGACCTTGGCTGCTCACTGTCCACA - rs61742526 byFrequency TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr5:179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA uc003mla.2 - 7 767_796 c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA c.(721-753)CATGTGGACAGTGAGCAGCCAAGGTCTCTTCAG>CAG p.HVDSEQPRSL241del SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_In_Frame_Del_p.HVDSEQPRSL186del|C5orf45_uc003mlb.2_In_Frame_Del_p.HVDSEQPRSL107del NM_016175 NP_057259 Q6NTE8 CE045_HUMAN hypothetical protein LOC51149 isoform 1 241_250 0 GGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTT 0.587 NaN NaN NaN NaN NaN NaN 7 28 --- --- SPTAN1 6709 broad.mit.edu 37 9 131367428 131367429 + Frame_Shift_Del DEL GA GA - TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1376c881-cea5-4470-8dc1-63c69f201570 f76ab1a8-ac91-4fd9-9fd1-219ead6195ce g.chr9:131367428_131367429delGA uc004bvl.3 + 30 3948_3949 c.3835_3836delGA c.(3835-3837)GAGfs p.E1279fs SPTAN1_uc011mbh.1_Frame_Shift_Del_p.E1291fs|SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1279fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1259fs NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1279 Spectrin 14. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAGGGCTTCGAGAGGGACCTT 0.5 NaN NaN NaN NaN NaN NaN 11 22 --- ---