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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter PUSL1 126789 broad.mit.edu 37 1 1246036 1246036 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:1246036G>C uc001aed.2 + 6 697 c.667G>C c.(667-669)GAG>CAG p.E223Q ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'Flank|PUSL1_uc010nyi.1_Missense_Mutation_p.E62Q|PUSL1_uc009vjx.2_Missense_Mutation_p.E24Q NM_153339 NP_699170 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 223 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAACCTGGAGTTTGAGAG 0.587 5 155 --- --- --- --- PASS AHDC1 27245 broad.mit.edu 37 1 27878009 27878009 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:27878009G>A uc009vsy.2 - 6 1587 c.618C>T c.(616-618)GAC>GAT p.D206D AHDC1_uc009vsz.1_Silent_p.D206D|AHDC1_uc001boh.1_Silent_p.D79D NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 206 Pro-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCTGGGGACTGTCCCTAGGCT 0.667 8 29 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45232580 45232580 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:45232580C>G uc001cmg.3 + 20 2169 c.2054C>G c.(2053-2055)TCT>TGT p.S685C KIF2C_uc010olb.1_Missense_Mutation_p.S644C|KIF2C_uc010olc.1_Missense_Mutation_p.S572C|KIF2C_uc001cmh.3_Missense_Mutation_p.S631C NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 685 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AAAGCGGAATCTGCTCTGGCC 0.587 18 34 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45232776 45232776 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:45232776C>G uc001cmg.3 + 21 2218 c.2103C>G c.(2101-2103)ATC>ATG p.I701M KIF2C_uc010olb.1_Missense_Mutation_p.I660M|KIF2C_uc010olc.1_Missense_Mutation_p.I588M|KIF2C_uc001cmh.3_Missense_Mutation_p.I647M NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 701 blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CAGATGTCATCAAGGCCTTGC 0.542 23 44 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145282031 145282031 + Nonstop_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:145282031G>C uc001emn.3 + 5 1081 c.711G>C c.(709-711)TAG>TAC p.*237Y NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc001emm.3_Nonstop_Mutation_p.*237Y|NOTCH2NL_uc001emo.2_Intron|NOTCH2NL_uc010oyh.1_Intron NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 237 cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 ATGAGAATTAGACACTGGAAA 0.368 6 71 --- --- --- --- PASS INTS3 65123 broad.mit.edu 37 1 153735786 153735786 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:153735786G>C uc009wom.2 + 17 1935 c.1714G>C c.(1714-1716)GAC>CAC p.D572H INTS3_uc001fct.2_Missense_Mutation_p.D572H|INTS3_uc001fcu.2_Missense_Mutation_p.D264H|INTS3_uc001fcv.2_Missense_Mutation_p.D366H|INTS3_uc010peb.1_Missense_Mutation_p.D366H|INTS3_uc001fcw.2_Missense_Mutation_p.D85H|INTS3_uc010pec.1_Missense_Mutation_p.D85H NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 573 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCCTTACCTTGACCAGTTGGA 0.517 58 71 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160136391 160136391 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:160136391C>T uc001fve.3 + 8 1600 c.1121C>T c.(1120-1122)ACG>ATG p.T374M ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Translation_Start_Site NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 374 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCGGTGGAGACGCTGGGCTCC 0.582 15 45 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164781371 164781371 + Missense_Mutation SNP A G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:164781371A>G uc001gct.2 + 6 1240 c.982A>G c.(982-984)ACT>GCT p.T328A PBX1_uc010pku.1_Missense_Mutation_p.T328A|PBX1_uc010pkv.1_Missense_Mutation_p.T245A|PBX1_uc001gcs.2_Missense_Mutation_p.T328A|PBX1_uc010pkw.1_Missense_Mutation_p.T218A NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 328 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 CTCGCCCTCAACTCCCAACTC 0.438 T TCF3|EWSR1 pre B-ALL|myoepithelioma 6 49 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173486811 173486811 + Missense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:173486811C>A uc001giz.2 - 23 3195 c.2772G>T c.(2770-2772)GAG>GAT p.E924D SLC9A11_uc009wwe.2_Missense_Mutation_p.E482D NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 924 cNMP. sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TTTGATTACTCTCTATTCCAA 0.393 4 115 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244218145 244218145 + Nonsense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr1:244218145G>T uc001iae.2 + 1 1564 c.1042G>T c.(1042-1044)GAG>TAG p.E348* ZNF238_uc001iad.3_Nonsense_Mutation_p.E357*|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 348 Interaction with DNMT3A. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) TGTCCAGGTGGAGGGAGGCAT 0.622 23 23 --- --- --- --- PASS TTC15 51112 broad.mit.edu 37 2 3392130 3392130 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:3392130G>A uc002qxm.1 + 2 942 c.736G>A c.(736-738)GCC>ACC p.A246T TTC15_uc002qxn.1_Missense_Mutation_p.A246T|TTC15_uc010ewm.1_Missense_Mutation_p.A246T|TTC15_uc002qxl.1_Missense_Mutation_p.A246T NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 246 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) cccggcccccgccagcccgcc 0.577 6 2 --- --- --- --- PASS EMILIN1 11117 broad.mit.edu 37 2 27303628 27303628 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:27303628C>T uc002rii.3 + 3 747 c.319C>T c.(319-321)CGT>TGT p.R107C EMILIN1_uc010eyq.1_Missense_Mutation_p.R107C|EMILIN1_uc002rik.3_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 107 EMI. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTCGCTACCGTGTGGCCTA 0.637 OREG0014513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 19 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29917801 29917801 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:29917801G>A uc002rmy.2 - 3 1774 c.867C>T c.(865-867)TCC>TCT p.S289S NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 289 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TGCGGCGCCAGGACCAGCTCT 0.602 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 4 88 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49381444 49381444 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:49381444G>C uc002rww.2 - 1 187 c.113C>G c.(112-114)ACA>AGA p.T38R FSHR_uc002rwx.2_Missense_Mutation_p.T38R|FSHR_uc010fbn.2_Missense_Mutation_p.T38R|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 38 LRRNT.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGAATCTCTGTCACCTTGCT 0.502 Gonadal_Dysgenesis_46_XX 14 28 --- --- --- --- PASS ERLEC1 27248 broad.mit.edu 37 2 54014505 54014505 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:54014505C>G uc002rxl.2 + 1 438 c.158C>G c.(157-159)TCT>TGT p.S53C ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.S53C|ERLEC1_uc002rxn.2_Missense_Mutation_p.S53C NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 53 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 ACCGAGTTCTCTCTGGTCAGT 0.622 18 44 --- --- --- --- PASS HTRA2 27429 broad.mit.edu 37 2 74757203 74757203 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:74757203C>T uc002smi.1 + 1 672 c.70C>T c.(70-72)CGC>TGC p.R24C AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.R24C|HTRA2_uc002smk.1_Missense_Mutation_p.R24C|HTRA2_uc002sml.1_Missense_Mutation_p.R24C|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 24 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GGGGGGCATTCGCTGGGGGAG 0.711 13 28 --- --- --- --- PASS FABP1 2168 broad.mit.edu 37 2 88427470 88427470 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:88427470C>T uc002sst.1 - 1 109 c.67G>A c.(67-69)GGT>AGT p.G23S FABP1_uc002ssu.2_Missense_Mutation_p.G23S NM_001443 NP_001434 P07148 FABPL_HUMAN fatty acid binding protein 1, liver 23 organ morphogenesis 0 CAGCACTCACCGATTGCCTTC 0.517 38 90 --- --- --- --- PASS FHL2 2274 broad.mit.edu 37 2 105990063 105990063 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:105990063T>C uc002tcu.2 - 3 621 c.284A>G c.(283-285)AAC>AGC p.N95S FHL2_uc002tdc.2_Intron|FHL2_uc002tdd.2_Missense_Mutation_p.N95S|FHL2_uc002tcv.2_Missense_Mutation_p.N95S|FHL2_uc002tcw.2_Missense_Mutation_p.N95S|FHL2_uc002tcx.2_Missense_Mutation_p.N95S|FHL2_uc010fje.2_Intron|FHL2_uc002tcy.2_Missense_Mutation_p.N95S|FHL2_uc002tcz.2_Missense_Mutation_p.N205S|FHL2_uc002tda.2_Intron|FHL2_uc002tdb.2_Missense_Mutation_p.N211S|FHL2_uc002tde.1_Missense_Mutation_p.N188S NM_201557 NP_963851 Q14192 FHL2_HUMAN four and a half LIM domains 2 95 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding ovary(1) 1 TGAGTACTCGTTGGAATAGCA 0.532 6 28 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520797 131520797 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:131520797C>T uc002trw.2 + 2 1342 c.1152C>T c.(1150-1152)GAC>GAT p.D384D FAM123C_uc010fmv.2_Silent_p.D384D|FAM123C_uc010fms.1_Silent_p.D384D|FAM123C_uc010fmt.1_Silent_p.D384D|FAM123C_uc010fmu.1_Silent_p.D384D NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 384 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCACAAGTGACGAGGGCTACT 0.627 11 28 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 Mis NSCLC|HNSCC HNSCC(56;0.16) 19 55 --- --- --- --- PASS AGPS 8540 broad.mit.edu 37 2 178402887 178402887 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:178402887C>T uc002ull.2 + 20 1988 c.1941C>T c.(1939-1941)GAC>GAT p.D647D AGPS_uc010zfb.1_Silent_p.D557D NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 647 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) AATATGTGGACCCCAATAACA 0.348 6 133 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179579026 179579026 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:179579026G>A uc010zfg.1 - 88 22967 c.22743C>T c.(22741-22743)TCC>TCT p.S7581S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S4242S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8508 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) AACCGAGAACGGATAGCGTGG 0.398 4 173 --- --- --- --- PASS CCNYL1 151195 broad.mit.edu 37 2 208611876 208611876 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:208611876G>A uc002vci.2 + 6 949 c.592G>A c.(592-594)GAT>AAT p.D198N CCNYL1_uc002vch.2_Missense_Mutation_p.D179N NM_001142300 NP_001135772 Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 isoform 1 249 Cyclin N-terminal. regulation of cyclin-dependent protein kinase activity protein kinase binding 0 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) GGTTTGGGACGATCAGGCTGT 0.428 15 45 --- --- --- --- PASS GLB1L 79411 broad.mit.edu 37 2 220103867 220103867 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr2:220103867C>G uc002vkm.2 - 11 1248 c.1009G>C c.(1009-1011)GAA>CAA p.E337Q GLB1L_uc002vkk.2_Missense_Mutation_p.E94Q|GLB1L_uc010zkx.1_Missense_Mutation_p.E247Q|GLB1L_uc002vkn.2_Missense_Mutation_p.E337Q NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 337 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCCTGCTTCAGATATAGGT 0.423 14 42 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13417073 13417073 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr3:13417073G>A uc003bxv.1 - 11 1445 c.1362C>T c.(1360-1362)ATC>ATT p.I454I NUP210_uc003bxx.2_Silent_p.I126I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 454 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GATACAGGGTGATCGGGATGT 0.542 20 99 --- --- --- --- PASS CLASP2 23122 broad.mit.edu 37 3 33617711 33617711 + Nonsense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr3:33617711G>A uc003cfu.2 - 24 2758 c.2404C>T c.(2404-2406)CGA>TGA p.R802* CLASP2_uc003cfs.2_Nonsense_Mutation_p.R2*|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Nonsense_Mutation_p.R395* NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 803 ovary(3)|central_nervous_system(1) 4 TTCAGGACTCGCATGGCACTA 0.423 3 28 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73013431 73013431 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr4:73013431C>G uc003hgg.2 + 4 1569 c.1471C>G c.(1471-1473)CAT>GAT p.H491D NPFFR2_uc010iig.1_Missense_Mutation_p.H273D|NPFFR2_uc003hgi.2_Missense_Mutation_p.H392D|NPFFR2_uc003hgh.2_Missense_Mutation_p.H389D|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 491 Cytoplasmic (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCAAAACCCTCATGGGGAAAC 0.378 17 34 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73943167 73943167 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr4:73943167G>C uc003hgp.2 - 32 7609 c.7492C>G c.(7492-7494)CAA>GAA p.Q2498E ANKRD17_uc003hgo.2_Missense_Mutation_p.Q2385E|ANKRD17_uc003hgq.2_Missense_Mutation_p.Q2247E|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q2497E NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2498 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCATTGCTTGATGTTGTGAA 0.453 30 57 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94145893 94145893 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr4:94145893G>T uc011cdt.1 + 7 1350 c.1092G>T c.(1090-1092)CAG>CAT p.Q364H GRID2_uc011cdu.1_Missense_Mutation_p.Q269H|GRID2_uc010ikz.1_Missense_Mutation_p.Q45H NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 364 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGCCCTGGCAGGGTGGGCGCT 0.408 9 18 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123178555 123178555 + Missense_Mutation SNP T A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr4:123178555T>A uc003ieh.2 + 39 6569 c.6524T>A c.(6523-6525)ATG>AAG p.M2175K KIAA1109_uc003iel.1_Missense_Mutation_p.M110K|KIAA1109_uc003iek.2_Missense_Mutation_p.M794K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2175 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CAAATAGCTATGGACCATGAA 0.463 28 92 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13841159 13841159 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr5:13841159G>C uc003jfd.2 - 34 5607 c.5565C>G c.(5563-5565)ATC>ATG p.I1855M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1855 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTTTCTGCATGATTTTTTTAT 0.403 Kartagener_syndrome 18 94 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13920702 13920702 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr5:13920702G>A uc003jfd.2 - 6 727 c.685C>T c.(685-687)CTT>TTT p.L229F DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 229 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTCAGTTCAAGTATGTCACAC 0.378 Kartagener_syndrome 13 79 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35740042 35740042 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr5:35740042C>T uc003jjo.2 + 22 3196 c.3085C>T c.(3085-3087)CCT>TCT p.P1029S SPEF2_uc003jjp.1_Missense_Mutation_p.P515S NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1029 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTTTTAGTACCTTACTGGGA 0.348 12 65 --- --- --- --- PASS NKX2-5 1482 broad.mit.edu 37 5 172659789 172659789 + Missense_Mutation SNP T G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr5:172659789T>G uc003mcm.1 - 2 934 c.758A>C c.(757-759)TAC>TCC p.Y253S NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 253 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATAGGCGGGGTAGGCGTTATA 0.706 5 8 --- --- --- --- PASS DDR1 780 broad.mit.edu 37 6 30856735 30856735 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr6:30856735G>A uc003nrr.2 + 4 395 c.136G>A c.(136-138)GAC>AAC p.D46N DDR1_uc010jse.2_Missense_Mutation_p.D46N|DDR1_uc003nrq.2_Missense_Mutation_p.D46N|DDR1_uc003nrs.2_Missense_Mutation_p.D46N|DDR1_uc003nrt.2_Missense_Mutation_p.D46N|DDR1_uc011dms.1_Missense_Mutation_p.D64N|DDR1_uc011dmt.1_Missense_Mutation_p.D72N|DDR1_uc003nru.2_Missense_Mutation_p.D46N|DDR1_uc011dmu.1_Missense_Mutation_p.D46N|DDR1_uc003nrv.2_Missense_Mutation_p.D46N|DDR1_uc003nrw.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 46 Extracellular (Potential).|F5/8 type C. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) CCCAGACAGTGACATCTCTGC 0.592 9 18 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161026228 161026228 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr6:161026228T>C uc003qtl.2 - 19 2915 c.2795A>G c.(2794-2796)GAG>GGG p.E932G NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3440 Kringle 31. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGGCCTTTGCTCAGTTGGTGC 0.443 4 229 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41739883 41739883 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:41739883G>T uc003thq.2 - 1 325 c.90C>A c.(88-90)AGC>AGA p.S30R LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.S30R|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 30 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CGGGGGCCGCGCTGTGCCCCT 0.587 TSP Lung(11;0.080) 50 175 --- --- --- --- PASS OGDH 4967 broad.mit.edu 37 7 44714139 44714139 + Silent SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:44714139C>A uc003tln.2 + 7 1027 c.918C>A c.(916-918)ATC>ATA p.I306I OGDH_uc003tlm.2_Silent_p.I306I|OGDH_uc011kbx.1_Silent_p.I302I|OGDH_uc011kby.1_Silent_p.I156I|OGDH_uc003tlp.2_Silent_p.I317I|OGDH_uc011kbz.1_Silent_p.I101I|OGDH_uc003tlo.1_Silent_p.I139I NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 306 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) ACTACGTGATCATGGGCATGC 0.562 8 41 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47319763 47319763 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:47319763T>C uc003tnv.2 - 30 4559 c.4192A>G c.(4192-4194)AAA>GAA p.K1398E TNS3_uc003tnw.2_Missense_Mutation_p.K1398E NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1398 focal adhesion protein binding ovary(4) 4 GCAACTTACTTTGAGGAAGGG 0.368 34 60 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71571274 71571274 + Nonsense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:71571274G>A uc003twa.3 - 3 651 c.124C>T c.(124-126)CGA>TGA p.R42* CALN1_uc003twb.3_Nonsense_Mutation_p.R84*|CALN1_uc003twc.3_Nonsense_Mutation_p.R42* NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 42 EF-hand 1.|Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AAGGCCTCTCGGATTTCTACA 0.522 11 21 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764926 82764926 + Missense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:82764926C>A uc003uhx.2 - 3 2229 c.1940G>T c.(1939-1941)GGC>GTC p.G647V PCLO_uc003uhv.2_Missense_Mutation_p.G647V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 593 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGATCCCCGCCTAGAGCTCT 0.448 4 9 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117254679 117254679 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:117254679G>C uc003vjd.2 + 21 3512 c.3380G>C c.(3379-3381)GGA>GCA p.G1127A CFTR_uc011knq.1_Missense_Mutation_p.G533A NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1127 Extracellular (Potential).|ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAGGAGAAGGAAGAGTTGGT 0.398 Cystic_Fibrosis 14 50 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117307086 117307086 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:117307086G>T uc003vjd.2 + 27 4499 c.4367G>T c.(4366-4368)AGC>ATC p.S1456I CFTR_uc011knq.1_Missense_Mutation_p.S862I NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1456 Cytoplasmic (Potential). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CGGAACTCAAGCAAGTGCAAG 0.517 Cystic_Fibrosis 6 20 --- --- --- --- PASS EPHA1 2041 broad.mit.edu 37 7 143091367 143091367 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:143091367C>T uc003wcz.2 - 15 2509 c.2422G>A c.(2422-2424)GAT>AAT p.D808N NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 808 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CTCCACACATCGCTGGCTGTG 0.542 14 48 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158449118 158449118 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr7:158449118G>A uc003wnv.1 - 19 2367 c.2222C>T c.(2221-2223)ACA>ATA p.T741I NCAPG2_uc010lqu.1_Missense_Mutation_p.T533I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.T741I|NCAPG2_uc011kwe.1_Missense_Mutation_p.T741I|NCAPG2_uc011kwc.1_Missense_Mutation_p.T242I|NCAPG2_uc011kwd.1_Missense_Mutation_p.T184I NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 741 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TTTAGAAGCTGTGTTGCTCTG 0.423 3 63 --- --- --- --- PASS IKBKB 3551 broad.mit.edu 37 8 42176881 42176881 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr8:42176881C>G uc003xow.1 + 14 1635 c.1458C>G c.(1456-1458)TTC>TTG p.F486L IKBKB_uc010lxh.1_Missense_Mutation_p.F381L|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.F263L|IKBKB_uc003xox.1_Missense_Mutation_p.F207L|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.F484L|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.F427L NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 486 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TGGATTTCTTCAAAACCAGCA 0.458 OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 54 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71075035 71075035 + Nonsense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr8:71075035C>T uc003xyn.1 - 9 1049 c.887G>A c.(886-888)TGG>TAG p.W296* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 296 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CAGGTCCTCCCAGCCTGGTTT 0.458 T RUNXBP2 AML 43 101 --- --- --- --- PASS MRPS28 28957 broad.mit.edu 37 8 80942390 80942390 + Nonsense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr8:80942390C>A uc003ybp.2 - 1 117 c.94G>T c.(94-96)GAG>TAG p.E32* MRPS28_uc003ybo.2_5'UTR|TPD52_uc010lzr.2_Intron NM_014018 NP_054737 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 32 mitochondrial small ribosomal subunit 0 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) GATCCACTCTCAGTGCCTACA 0.592 14 27 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131916111 131916111 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr8:131916111C>T uc003ytd.3 - 7 2074 c.1818G>A c.(1816-1818)GTG>GTA p.V606V ADCY8_uc010mds.2_Silent_p.V606V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 606 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTGAGGAGCTCACTGACTCCT 0.473 HNSCC(32;0.087) 21 61 --- --- --- --- PASS IFNA17 3451 broad.mit.edu 37 9 21227905 21227905 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:21227905G>C uc003zos.1 - 1 317 c.268C>G c.(268-270)CTC>GTC p.L90V IFNA14_uc003zoo.1_Intron NM_021268 NP_067091 P01571 IFN17_HUMAN interferon, alpha 17 precursor 90 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GTGCTGAAGAGATTGAAGGTC 0.473 31 74 --- --- --- --- PASS C9orf11 54586 broad.mit.edu 37 9 27296647 27296647 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:27296647C>G uc003zql.2 - 2 250 c.166G>C c.(166-168)GAG>CAG p.E56Q C9orf11_uc011lnq.1_Missense_Mutation_p.E56Q|C9orf11_uc003zqm.2_Missense_Mutation_p.E56Q NM_020641 NP_065692 Q9NQ60 AFAF_HUMAN Acr formation associated factor isoform 1 56 Vesicular (Potential). acrosomal membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106) CCATTTTTCTCATTAGCAGGA 0.294 8 66 --- --- --- --- PASS KIF24 347240 broad.mit.edu 37 9 34290194 34290194 + Missense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:34290194C>A uc003zua.3 - 5 1225 c.1105G>T c.(1105-1107)GAC>TAC p.D369Y KIF24_uc010mkb.2_Missense_Mutation_p.D400Y NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 369 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) TTTAGGAGGTCATAAAGCTGT 0.413 16 73 --- --- --- --- PASS CA9 768 broad.mit.edu 37 9 35675547 35675547 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:35675547G>A uc003zxo.3 + 2 458 c.416G>A c.(415-417)AGT>AAT p.S139N C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.S139N NM_001216 NP_001207 Q16790 CAH9_HUMAN carbonic anhydrase IX precursor 139 Extracellular.|Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding ovary(4)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATGACCAGAGTCATTGGCGC 0.498 30 16 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475644 120475644 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:120475644C>G uc004bjz.2 + 3 1529 c.1238C>G c.(1237-1239)ACC>AGC p.T413S TLR4_uc004bka.2_Missense_Mutation_p.T373S|TLR4_uc004bkb.2_Missense_Mutation_p.T213S NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 413 LRR 12.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GGTGTTATTACCATGAGTTCA 0.378 7 77 --- --- --- --- PASS SCAI 286205 broad.mit.edu 37 9 127790688 127790688 + Missense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:127790688C>A uc004bpe.2 - 5 477 c.396G>T c.(394-396)CAG>CAT p.Q132H SCAI_uc004bpd.2_Missense_Mutation_p.Q155H|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 132 Required for interaction with MKL1 (By similarity).|Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 GATAGTATAGCTGCCCAATCT 0.338 6 48 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135211885 135211885 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr9:135211885G>C uc004cbk.2 - 6 699 c.516C>G c.(514-516)ATC>ATG p.I172M NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 172 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TTGCAGTCAAGATAGCCCAAC 0.348 7 47 --- --- --- --- PASS SLC16A9 220963 broad.mit.edu 37 10 61432635 61432635 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr10:61432635G>T uc010qig.1 - 3 682 c.233C>A c.(232-234)GCA>GAA p.A78E NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 78 Extracellular (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 GACAGGTCTTGCTCCAAAAGA 0.398 11 19 --- --- --- --- PASS MMRN2 79812 broad.mit.edu 37 10 88703038 88703038 + Silent SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr10:88703038C>A uc001kea.2 - 6 1630 c.1503G>T c.(1501-1503)CTG>CTT p.L501L MMRN2_uc010qmn.1_Silent_p.L144L|MMRN2_uc009xtb.2_Silent_p.L458L NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 501 extracellular space large_intestine(1) 1 GGATGACGTCCAGGTCTAAAT 0.642 9 33 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969026 5969026 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:5969026G>A uc010qzt.1 + 1 450 c.450G>A c.(448-450)ATG>ATA p.M150I NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCTGCCATGTTTATTTTGA 0.443 9 101 --- --- --- --- PASS CTR9 9646 broad.mit.edu 37 11 10794075 10794075 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:10794075C>T uc001mja.2 + 20 2602 c.2453C>T c.(2452-2454)TCT>TTT p.S818F NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 818 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGGCAGTGTTCTGACTTACTG 0.433 9 19 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371600 55371600 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:55371600G>A uc010rii.1 - 1 250 c.250C>T c.(250-252)CTC>TTC p.L84F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTTCAGAGAGAGCATCCACA 0.403 32 29 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761723 55761723 + Missense_Mutation SNP A G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:55761723A>G uc010riv.1 - 1 379 c.379T>C c.(379-381)TGT>CGT p.C127R NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGCGGGCGACATATGGCCGCA 0.507 11 54 --- --- --- --- PASS CTNND1 1500 broad.mit.edu 37 11 57576856 57576856 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:57576856G>C uc001nmc.3 + 15 2924 c.2353G>C c.(2353-2355)GTT>CTT p.V785L CTNND1_uc001nlh.1_Missense_Mutation_p.V785L|CTNND1_uc001nlu.3_Missense_Mutation_p.V678L|CTNND1_uc001nlt.3_Missense_Mutation_p.V678L|CTNND1_uc001nls.3_Missense_Mutation_p.V678L|CTNND1_uc001nlw.3_Missense_Mutation_p.V678L|CTNND1_uc001nmf.3_Missense_Mutation_p.V785L|CTNND1_uc001nmd.3_Missense_Mutation_p.V731L|CTNND1_uc001nlk.3_Missense_Mutation_p.V731L|CTNND1_uc001nme.3_Missense_Mutation_p.V779L|CTNND1_uc001nll.3_Missense_Mutation_p.V725L|CTNND1_uc001nmg.3_Missense_Mutation_p.V725L|CTNND1_uc001nlj.3_Missense_Mutation_p.V725L|CTNND1_uc001nlr.3_Missense_Mutation_p.V725L|CTNND1_uc001nlp.3_Missense_Mutation_p.V725L|CTNND1_uc001nlx.3_Missense_Mutation_p.V462L|CTNND1_uc001nlz.3_Missense_Mutation_p.V462L|CTNND1_uc009ymn.2_Missense_Mutation_p.V456L|CTNND1_uc001nlm.3_Missense_Mutation_p.V779L|CTNND1_uc001nly.3_Missense_Mutation_p.V456L|CTNND1_uc001nmb.3_Missense_Mutation_p.V456L|CTNND1_uc001nma.3_Missense_Mutation_p.V456L|CTNND1_uc001nmi.3_Missense_Mutation_p.V684L|CTNND1_uc001nmh.3_Missense_Mutation_p.V779L|CTNND1_uc001nlq.3_Missense_Mutation_p.V684L|CTNND1_uc001nln.3_Missense_Mutation_p.V779L|CTNND1_uc001nli.3_Missense_Mutation_p.V779L|CTNND1_uc001nlo.3_Missense_Mutation_p.V678L|CTNND1_uc001nlv.3_Missense_Mutation_p.V678L NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 785 ARM 10. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TATCAACGAGGTTATCGCTGA 0.443 15 31 --- --- --- --- PASS UVRAG 7405 broad.mit.edu 37 11 75727967 75727967 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:75727967G>T uc001oxc.2 + 12 1410 c.1169G>T c.(1168-1170)GGG>GTG p.G390V UVRAG_uc010rrw.1_Missense_Mutation_p.G289V|UVRAG_uc001oxd.2_Missense_Mutation_p.G18V|UVRAG_uc010rrx.1_Missense_Mutation_p.G18V|UVRAG_uc009yuh.1_RNA NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 390 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 ATTCATAAGGGGTCTAGATCA 0.373 15 60 --- --- --- --- PASS KIAA1826 84437 broad.mit.edu 37 11 105880459 105880459 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:105880459C>T uc001piy.2 - 3 1014 c.841G>A c.(841-843)GGT>AGT p.G281S KIAA1826_uc001piz.2_Missense_Mutation_p.G281S NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 281 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) TCTCCTTGACCAAGTTCATTT 0.438 39 128 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108382977 108382977 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:108382977G>A uc001pkk.2 - 6 3368 c.3257C>T c.(3256-3258)TCA>TTA p.S1086L EXPH5_uc010rvy.1_Missense_Mutation_p.S898L|EXPH5_uc010rvz.1_Missense_Mutation_p.S930L|EXPH5_uc010rwa.1_Missense_Mutation_p.S1010L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1086 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGCTGAGTCTGAAAGGACTTT 0.413 20 61 --- --- --- --- PASS DRD2 1813 broad.mit.edu 37 11 113283341 113283341 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:113283341T>C uc001pnz.2 - 6 1396 c.1075A>G c.(1075-1077)AGC>GGC p.S359G DRD2_uc010rwv.1_Missense_Mutation_p.S358G|DRD2_uc001poa.3_Missense_Mutation_p.S359G|DRD2_uc001pob.3_Missense_Mutation_p.S330G NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 359 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) TTCCTACGGCTCATGGTCTTG 0.567 3 60 --- --- --- --- PASS HSPA8 3312 broad.mit.edu 37 11 122930469 122930469 + Missense_Mutation SNP T G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:122930469T>G uc001pyo.2 - 5 910 c.832A>C c.(832-834)ACC>CCC p.T278P HSPA8_uc009zbc.2_Missense_Mutation_p.T42P|HSPA8_uc001pyp.2_Missense_Mutation_p.T278P|HSPA8_uc010rzu.1_Missense_Mutation_p.T201P|HSPA8_uc009zbd.1_Missense_Mutation_p.T278P NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 278 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTGGCCTGGGTGCTGGAAGAG 0.488 3 36 --- --- --- --- PASS CDON 50937 broad.mit.edu 37 11 125864259 125864259 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr11:125864259G>A uc009zbw.2 - 14 2698 c.2570C>T c.(2569-2571)ACT>ATT p.T857I CDON_uc001qdb.3_Missense_Mutation_p.T234I|CDON_uc001qdc.3_Missense_Mutation_p.T857I NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 857 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TTGAATGGGAGTGTTATTGTT 0.353 6 27 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5722118 5722118 + Silent SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:5722118C>A uc001qnm.2 - 19 2007 c.1935G>T c.(1933-1935)GTG>GTT p.V645V NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 650 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CAGGCCTGCCCACAAACCTGA 0.532 10 38 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14578137 14578137 + Missense_Mutation SNP A G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:14578137A>G uc001rbw.2 + 2 1446 c.1288A>G c.(1288-1290)ATG>GTG p.M430V ATF7IP_uc010shs.1_Missense_Mutation_p.M430V|ATF7IP_uc001rbu.2_Missense_Mutation_p.M430V|ATF7IP_uc001rbv.1_Missense_Mutation_p.M430V|ATF7IP_uc001rbx.2_Missense_Mutation_p.M430V|ATF7IP_uc010sht.1_Missense_Mutation_p.M430V|ATF7IP_uc001rby.3_Missense_Mutation_p.M430V|ATF7IP_uc001rbz.1_Missense_Mutation_p.M430V|ATF7IP_uc001rca.2_Missense_Mutation_p.M430V|ATF7IP_uc001rcb.2_Missense_Mutation_p.M41V NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 430 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TACAGACTCTATGGAGACAGA 0.333 16 44 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23696276 23696276 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:23696276C>T uc001rfw.2 - 13 1742 c.1640G>A c.(1639-1641)CGA>CAA p.R547Q SOX5_uc001rfx.2_Missense_Mutation_p.R534Q|SOX5_uc001rfy.2_Missense_Mutation_p.R426Q|SOX5_uc001rfv.2_Missense_Mutation_p.R161Q|SOX5_uc010siv.1_Missense_Mutation_p.R534Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R499Q NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 547 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 ACCACGCCCTCGGGATTCCCT 0.453 34 82 --- --- --- --- PASS LIMA1 51474 broad.mit.edu 37 12 50571710 50571710 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:50571710C>G uc001rwj.3 - 11 1591 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q LIMA1_uc001rwg.3_Missense_Mutation_p.E171Q|LIMA1_uc001rwh.3_Missense_Mutation_p.E312Q|LIMA1_uc001rwi.3_Missense_Mutation_p.E314Q|LIMA1_uc001rwk.3_Missense_Mutation_p.E474Q|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 473 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TCCAAAATCTCTTCGTTTTCA 0.498 7 119 --- --- --- --- PASS KRT6A 3853 broad.mit.edu 37 12 52885385 52885385 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:52885385C>T uc001sam.2 - 2 885 c.676G>A c.(676-678)GAC>AAC p.D226N NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 226 Coil 1B.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) ACAATGCTGTCCAGCTGCCTC 0.562 23 75 --- --- --- --- PASS KRT4 3851 broad.mit.edu 37 12 53201458 53201458 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:53201458T>C uc001saz.2 - 7 1809 c.1538A>G c.(1537-1539)TAC>TGC p.Y513C NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 439 keratin filament structural molecule activity ovary(4)|skin(2) 6 CAGTTTGCGGTAGGTGGCGAT 0.592 14 72 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57588840 57588840 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:57588840G>A uc001snd.2 + 51 8730 c.8264G>A c.(8263-8265)GGC>GAC p.G2755D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2755 Extracellular (Potential).|LDL-receptor class A 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGTGTGACGGCAGCGATGAC 0.607 28 56 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77239571 77239571 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:77239571G>C uc001syk.1 + 13 1575 c.1412G>C c.(1411-1413)GGT>GCT p.G471A NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 471 Cytoplasmic (Potential).|DHHC-type. lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 CCATGGGTGGGTAACTGTGTA 0.343 3 83 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117768176 117768176 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:117768176C>T uc001twm.1 - 2 1385 c.699G>A c.(697-699)ATG>ATA p.M233I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 233 PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCATATCTTTCATCTCTGCCT 0.408 13 71 --- --- --- --- PASS CCDC60 160777 broad.mit.edu 37 12 119916931 119916931 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr12:119916931G>A uc001txe.2 + 4 839 c.374G>A c.(373-375)GGA>GAA p.G125E uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 125 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AAGACACTGGGAGCTAGAGTC 0.483 11 31 --- --- --- --- PASS ZDHHC20 253832 broad.mit.edu 37 13 21965981 21965981 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr13:21965981C>T uc001uob.2 - 8 720 c.607G>A c.(607-609)GAT>AAT p.D203N ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Missense_Mutation_p.D140N NM_153251 NP_694983 Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 203 integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) GCACGTGTATCTGTCAGTTCA 0.358 4 17 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369131 22369131 + Silent SNP C A A rs141142184 TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:22369131C>A uc010tzu.1 + 1 556 c.556C>A c.(556-558)CGG>AGG p.R186R LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACAGGTTGTCCGGATTGCCTG 0.458 32 116 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40265206 40265206 + Missense_Mutation SNP A T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:40265206A>T uc001zkm.1 + 10 1701 c.1651A>T c.(1651-1653)AGT>TGT p.S551C EIF2AK4_uc001zkl.2_Missense_Mutation_p.S551C|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S280C NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 551 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) AGTGGAACAAAGTCCTGAAGG 0.398 3 64 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41862508 41862508 + Silent SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:41862508C>A uc001zof.1 + 11 1677 c.1453C>A c.(1453-1455)CGA>AGA p.R485R NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 485 Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTCCTTCAATCGAGAAAGGCC 0.567 20 93 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42032210 42032210 + Missense_Mutation SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:42032210C>T uc010uda.1 + 3 368 c.242C>T c.(241-243)TCA>TTA p.S81L MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1470 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) TTGCGACCCTCAGTCCTGGAC 0.532 22 98 --- --- --- --- PASS SLC30A4 7782 broad.mit.edu 37 15 45814460 45814460 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:45814460G>A uc001zvj.2 - 2 405 c.93C>T c.(91-93)TTC>TTT p.F31F C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 31 Cytoplasmic (Potential).|Asp-rich (acidic). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) CCTCATCCGAGAAGTCAAAGG 0.582 3 45 --- --- --- --- PASS COPS2 9318 broad.mit.edu 37 15 49429425 49429425 + Splice_Site SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:49429425C>T uc001zxf.2 - 6 542 c.463_splice c.e6-1 p.L155_splice COPS2_uc001zxh.2_Splice_Site_p.L162_splice|COPS2_uc010ufa.1_Splice_Site_p.L91_splice NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) ATTTTCCAAGCTGCAAGAAAG 0.333 9 33 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68661578 68661578 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:68661578G>A uc002ari.2 - 3 296 c.209C>T c.(208-210)ACG>ATG p.T70M ITGA11_uc010bib.2_Missense_Mutation_p.T70M NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 70 FG-GAP 1.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CACGTCTCCCGTCTTCTGGTA 0.557 18 37 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84652054 84652054 + Missense_Mutation SNP A G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr15:84652054A>G uc002bjz.3 + 21 3898 c.3674A>G c.(3673-3675)TAT>TGT p.Y1225C ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Y1225C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Y1225C NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1225 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGCCACATATACATGGACC 0.363 40 111 --- --- --- --- PASS RPL3L 6123 broad.mit.edu 37 16 2000847 2000847 + Nonsense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr16:2000847G>A uc002cnh.2 - 4 546 c.499C>T c.(499-501)CAG>TAG p.Q167* NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 167 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 GGGCTGACCTGAGTGTGGACA 0.587 31 34 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89351186 89351186 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr16:89351186C>T uc002fmx.1 - 9 2225 c.1764G>A c.(1762-1764)TCG>TCA p.S588S ANKRD11_uc002fmy.1_Silent_p.S588S|ANKRD11_uc002fnc.1_Silent_p.S588S|ANKRD11_uc002fnb.1_Silent_p.S545S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 588 Ser-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTGGCTTCAGCGATTCCACAC 0.592 5 24 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:7577580T>G uc002gim.2 - 7 895 c.701A>C c.(700-702)TAC>TCC p.Y234S TP53_uc002gig.1_Missense_Mutation_p.Y234S|TP53_uc002gih.2_Missense_Mutation_p.Y234S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102S|TP53_uc010cng.1_Missense_Mutation_p.Y102S|TP53_uc002gii.1_Missense_Mutation_p.Y102S|TP53_uc010cnh.1_Missense_Mutation_p.Y234S|TP53_uc010cni.1_Missense_Mutation_p.Y234S|TP53_uc002gij.2_Missense_Mutation_p.Y234S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141S|TP53_uc002gio.2_Missense_Mutation_p.Y102S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 234 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTAGTTGTAGTGGATGGT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 15 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37564166 37564166 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:37564166G>C uc002hrv.3 - 17 4520 c.4308C>G c.(4306-4308)ATC>ATG p.I1436M MED1_uc010wee.1_Missense_Mutation_p.I1264M|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1436 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGGAACCACTGATGAGTGGAG 0.493 HNSCC(31;0.082) 14 49 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37564269 37564269 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:37564269G>C uc002hrv.3 - 17 4417 c.4205C>G c.(4204-4206)CCT>CGT p.P1402R MED1_uc010wee.1_Missense_Mutation_p.P1230R|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1402 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTAATGCTAGGGGAGCCTCC 0.458 HNSCC(31;0.082) 29 59 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37564891 37564891 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:37564891G>A uc002hrv.3 - 17 3795 c.3583C>T c.(3583-3585)CAT>TAT p.H1195Y MED1_uc010wee.1_Missense_Mutation_p.H1023Y|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1195 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCCTTGAATGAGAAGGGGAT 0.483 HNSCC(31;0.082) 10 47 --- --- --- --- PASS TRIM25 7706 broad.mit.edu 37 17 54969227 54969227 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:54969227C>G uc002iut.2 - 9 1787 c.1727G>C c.(1726-1728)CGG>CCG p.R576P TRIM25_uc010dcj.2_Missense_Mutation_p.R368P NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 576 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) CACGCCCACCCGCGTGGCCTT 0.567 20 21 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247784 56247784 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:56247784C>T uc010wnp.1 + 1 768 c.768C>T c.(766-768)TAC>TAT p.Y256Y NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CAAGCATTTACCTCTATGCCC 0.537 48 50 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 67039850 67039850 + Missense_Mutation SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:67039850T>C uc002jhu.2 - 6 723 c.580A>G c.(580-582)ACA>GCA p.T194A ABCA9_uc010dez.2_Missense_Mutation_p.T194A|ABCA9_uc002jhv.2_Missense_Mutation_p.T194A NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 194 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) GAATGATTTGTTGCGATCTGA 0.343 28 24 --- --- --- --- PASS CYGB 114757 broad.mit.edu 37 17 74527629 74527629 + Silent SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:74527629C>A uc002jru.1 - 2 446 c.288G>T c.(286-288)CTG>CTT p.L96L CYGB_uc002jrv.1_Silent_p.L31L|PRCD_uc002jrw.1_Intron NM_134268 NP_599030 Q8WWM9 CYGB_HUMAN cytoglobin 96 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity 0 CGGGGTCATGCAGGTTCTCCA 0.627 13 36 --- --- --- --- PASS ZBTB7A 51341 broad.mit.edu 37 19 4054254 4054254 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:4054254G>A uc002lzh.2 - 2 1052 c.977C>T c.(976-978)TCG>TTG p.S326L ZBTB7A_uc002lzi.2_Missense_Mutation_p.S326L NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 326 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) ccggcccACCGATGACATCAT 0.597 3 4 --- --- --- --- PASS UPF1 5976 broad.mit.edu 37 19 18960909 18960909 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:18960909G>A uc002nkg.2 + 4 762 c.487G>A c.(487-489)GCA>ACA p.A163T UPF1_uc002nkf.2_Missense_Mutation_p.A163T NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 163 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTTGTGAGGGCAAAATGCAA 0.517 4 109 --- --- --- --- PASS ZNF93 81931 broad.mit.edu 37 19 20027425 20027425 + Missense_Mutation SNP T G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:20027425T>G uc002non.2 + 3 298 c.187T>G c.(187-189)TTG>GTG p.L63V ZNF93_uc002nom.2_Missense_Mutation_p.L63V NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 63 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 AAAAAAACCTTTGACTATGAA 0.418 4 81 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940429 22940429 + Missense_Mutation SNP C G G TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:22940429C>G uc010xrh.1 - 5 2009 c.2009G>C c.(2008-2010)TGC>TCC p.C670S NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCACATTTGCAGGGTTTCTC 0.358 8 76 --- --- --- --- PASS ZNF569 148266 broad.mit.edu 37 19 37904954 37904954 + Silent SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:37904954G>A uc002ogi.2 - 6 1164 c.606C>T c.(604-606)ATC>ATT p.I202I ZNF569_uc002ogh.2_Silent_p.I43I|ZNF569_uc002ogj.2_Silent_p.I226I NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 202 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGATGTCTGATGAGGTCCA 0.358 31 71 --- --- --- --- PASS ZFP30 22835 broad.mit.edu 37 19 38126846 38126846 + Missense_Mutation SNP G A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:38126846G>A uc002ogv.1 - 6 1112 c.596C>T c.(595-597)GCC>GTC p.A199V ZFP30_uc002ogw.1_Missense_Mutation_p.A199V|ZFP30_uc002ogx.1_Missense_Mutation_p.A199V|ZFP30_uc010xtt.1_Missense_Mutation_p.A198V NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 199 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGAGGTGGGCACACTGTCT 0.388 4 171 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38948934 38948934 + Splice_Site SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:38948934T>C uc002oit.2 + 18 2297 c.2167_splice c.e18+2 p.G723_splice RYR1_uc002oiu.2_Splice_Site_p.G723_splice NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCTGGACAGGTACCTGACCCC 0.612 55 79 --- --- --- --- PASS ZNF222 7673 broad.mit.edu 37 19 44536873 44536873 + Missense_Mutation SNP G T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:44536873G>T uc002oyc.2 + 4 1229 c.1046G>T c.(1045-1047)GGC>GTC p.G349V ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.G389V|ZNF222_uc002oyd.2_Missense_Mutation_p.G295V NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 349 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) TGTGGGAAGGGCTACATTAGT 0.448 15 78 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52705205 52705205 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr19:52705205C>T uc002pyp.2 + 2 246 c.87C>T c.(85-87)CTC>CTT p.L29L PPP2R1A_uc010ydk.1_Missense_Mutation_p.S8L|PPP2R1A_uc010epm.1_Silent_p.L69L|PPP2R1A_uc002pyq.2_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 29 PP2A subunit B binding.|HEAT 1. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AGCTTCGCCTCAACAGCATCA 0.532 Mis clear cell ovarian carcinoma 6 26 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9317805 9317805 + Silent SNP C T T TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr20:9317805C>T uc002wnf.2 + 4 253 c.117C>T c.(115-117)TTC>TTT p.F39F PLCB4_uc010gbw.1_Silent_p.F39F|PLCB4_uc010gbx.2_Silent_p.F39F|PLCB4_uc002wne.2_Silent_p.F39F NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 39 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 ACTGCCTCTTCAAAGTGGATG 0.378 15 49 --- --- --- --- PASS C22orf30 253143 broad.mit.edu 37 22 32097716 32097716 + Silent SNP T C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr22:32097716T>C uc003alp.3 - 7 6226 c.6033A>G c.(6031-6033)TCA>TCG p.S2011S C22orf30_uc003alo.1_Silent_p.S1810S|C22orf30_uc010gwj.1_Intron NM_173566 NP_775837 Q5THK1 PR14L_HUMAN hypothetical protein LOC253143 2011 0 TGCGAATCTGTGAGACTTTCT 0.408 17 54 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50037927 50037927 + Missense_Mutation SNP C A A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chrX:50037927C>A uc004dox.3 + 5 567 c.269C>A c.(268-270)TCC>TAC p.S90Y CCNB3_uc004doy.2_Missense_Mutation_p.S90Y|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_5'UTR NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 90 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AAAGTTGTTTCCAAGAAGATA 0.428 21 11 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136649888 136649888 + Missense_Mutation SNP G C C TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chrX:136649888G>C uc004fak.2 + 1 1543 c.1038G>C c.(1036-1038)AAG>AAC p.K346N NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 346 C2H2-type 3.|Nuclear localization signal. K->A: Increases its cytoplasmic localization. Does not interact with KPNA1 and KPNA6 and increases strongly its cytoplasmic localization; when associated with A-320; A-337; A-341; A- 349 and A-350. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGAACCTCAAGATCCACAAGA 0.602 3 64 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38888776 38888776 + Frame_Shift_Del DEL A - - TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr3:38888776delA uc011ays.1 - 26 4984 c.4785delT c.(4783-4785)GTTfs p.V1595fs NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1595 IV.|Helical; Name=S6 of repeat IV; (By similarity). response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACATGTTGACAACAATGAGAA 0.393 68 36 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10359842 10359842 + Frame_Shift_Del DEL T - - rs137989230 TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1eda33fc-80e5-4c5f-8c61-43976ca0106f 510ca59c-cb32-4cbd-9c02-fb0cbc243a29 g.chr17:10359842delT uc002gmn.2 - 17 2039 c.1928delA c.(1927-1929)AAGfs p.K643fs uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 643 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGAACCCTTCTTTTTGCCACC 0.338 40 33 --- --- --- ---