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 SDF4 51150 broad.mit.edu 37 1 1154233 1154233 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:1154233C>T uc001adh.3 - 5 981 c.652G>A c.(652-654)GAG>AAG p.E218K SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.E218K|SDF4_uc009vjv.2_Missense_Mutation_p.E96K|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 218 EF-hand 3.|3 (Potential). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AACTCCTCCTCCGTCAGCAGC 0.642 51 440 --- --- --- --- PASS SSU72 29101 broad.mit.edu 37 1 1509930 1509930 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:1509930G>A uc001agd.2 - 1 333 c.8C>T c.(7-9)TCG>TTG p.S3L SSU72_uc009vkg.1_Missense_Mutation_p.S3L|SSU72_uc001age.1_Missense_Mutation_p.S3L NM_014188 NP_054907 Q9NP77 SSU72_HUMAN Ssu72 RNA polymerase II CTD phosphatase homolog 3 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity 0 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CAGCGGGGACGACGGCATGGC 0.706 10 31 --- --- --- --- PASS THAP3 90326 broad.mit.edu 37 1 6692962 6692962 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:6692962T>C uc001aoc.2 + 6 704 c.545T>C c.(544-546)CTT>CCT p.L182P THAP3_uc001aod.2_Missense_Mutation_p.L181P|THAP3_uc001aoe.1_Intron Q8WTV1 THAP3_HUMAN RecName: Full=THAP domain-containing protein 3; 182 DNA binding|metal ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGCTATGCCCTTTTGGACTTA 0.567 4 174 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10434507 10434507 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:10434507G>C uc001aqx.3 + 46 5282 c.5080G>C c.(5080-5082)GAA>CAA p.E1694Q KIF1B_uc001aqw.3_Missense_Mutation_p.E1648Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1668Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1694Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1654Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1680Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1694 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCCAGATATTGAAGAAATTAG 0.428 12 226 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21036133 21036133 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:21036133C>T uc001bdr.3 - 4 787 c.669G>A c.(667-669)GTG>GTA p.V223V KIF17_uc001bds.3_Silent_p.V223V NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 223 Kinesin-motor. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CTCGCATACCCACGGCAGACA 0.612 6 104 --- --- --- --- PASS C1QB 713 broad.mit.edu 37 1 22987712 22987712 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:22987712G>T uc001bgd.2 + 3 727 c.595G>T c.(595-597)GAC>TAC p.D199Y NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 199 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CACCTTCTGTGACTATGCCTA 0.592 20 76 --- --- --- --- PASS TXLNA 200081 broad.mit.edu 37 1 32657926 32657926 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:32657926C>G uc001bui.2 + 7 1043 c.978C>G c.(976-978)GTC>GTG p.V326V TXLNA_uc001buj.2_Silent_p.V326V NM_175852 NP_787048 P40222 TXLNA_HUMAN taxilin 326 Potential. cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TCGACAAAGTCTTCAAACACA 0.577 25 178 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38003401 38003401 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:38003401T>C uc001cbi.2 - 4 1212 c.1139A>G c.(1138-1140)GAC>GGC p.D380G SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 380 production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) ATCTTTCCTGTCTATTTCAGA 0.423 52 187 --- --- --- --- PASS HPDL 84842 broad.mit.edu 37 1 45793514 45793514 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:45793514G>A uc001cne.2 + 1 970 c.694G>A c.(694-696)GAG>AAG p.E232K NM_032756 NP_116145 Q96IR7 HPDL_HUMAN glyoxalase domain containing 1 232 aromatic amino acid family metabolic process 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 Acute lymphoblastic leukemia(166;0.155) TGTTCTGGCTGAGTCCCTTCC 0.652 80 252 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52821929 52821929 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:52821929C>T uc001ctq.1 - 18 2139 c.2001G>A c.(1999-2001)CTG>CTA p.L667L CC2D1B_uc001ctr.2_Silent_p.L207L|CC2D1B_uc001cts.2_Silent_p.L352L NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 667 ovary(2) 2 GGGCCAGCTGCAGGATCTCCA 0.562 43 253 --- --- --- --- PASS JUN 3725 broad.mit.edu 37 1 59247951 59247951 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:59247951G>C uc001cze.2 - 1 1835 c.792C>G c.(790-792)ATC>ATG p.I264M uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 264 Basic motif. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) TGGAGGCAGCGATGCGGTTCC 0.612 A sarcoma 70 216 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62330108 62330108 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:62330108C>G uc001dab.2 + 20 2752 c.2638C>G c.(2638-2640)CAA>GAA p.Q880E INADL_uc009waf.1_Missense_Mutation_p.Q880E|INADL_uc001daa.2_Missense_Mutation_p.Q880E|INADL_uc001dad.3_Missense_Mutation_p.Q577E|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 880 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TGAGTTATATCAAGATCCCTC 0.438 15 130 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62713308 62713308 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:62713308C>T uc001dah.3 - 9 3096 c.2719G>A c.(2719-2721)GAC>AAC p.D907N KANK4_uc001dai.3_Missense_Mutation_p.D279N|KANK4_uc001daf.3_Missense_Mutation_p.D45N|KANK4_uc001dag.3_Missense_Mutation_p.D263N NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 907 ANK 3. ovary(3)|skin(2)|lung(1) 6 TCCTCCCTGTCGTGGCTGACT 0.622 28 110 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75065587 75065587 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:75065587C>G uc001dgg.2 - 11 1737 c.1518G>C c.(1516-1518)GAG>GAC p.E506D uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E300D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 506 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTGTTTCTCCTCATCTACTT 0.338 19 167 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79357344 79357344 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:79357344G>T uc001diq.3 - 14 2031 c.1875C>A c.(1873-1875)TTC>TTA p.F625L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 625 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGCCGAGAAGGAACAGAAGAG 0.478 4 90 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82409045 82409045 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:82409045A>T uc001dit.3 + 6 971 c.790A>T c.(790-792)ATC>TTC p.I264F LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I264F|LPHN2_uc001div.2_Missense_Mutation_p.I264F|LPHN2_uc009wcd.2_Missense_Mutation_p.I264F NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 264 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAAGACTGATATCGACCTAGC 0.413 41 152 --- --- --- --- PASS SH3GLB1 51100 broad.mit.edu 37 1 87207947 87207947 + Nonsense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:87207947C>G uc001dlw.2 + 8 1144 c.818C>G c.(817-819)TCA>TGA p.S273* SH3GLB1_uc001dlx.2_Nonsense_Mutation_p.S294*|SH3GLB1_uc001dly.2_Nonsense_Mutation_p.S302*|SH3GLB1_uc001dlz.2_Nonsense_Mutation_p.S173* NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 273 anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) CCTGTACCATCAGTTTTACCA 0.408 17 138 --- --- --- --- PASS SH3GLB1 51100 broad.mit.edu 37 1 87208108 87208108 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:87208108C>T uc001dlw.2 + 8 1305 c.979C>T c.(979-981)CTG>TTG p.L327L SH3GLB1_uc001dlx.2_Silent_p.L348L|SH3GLB1_uc001dly.2_Silent_p.L356L|SH3GLB1_uc001dlz.2_Silent_p.L227L NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 327 SH3. anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) ATTATCACTTCTGGCAGATGA 0.388 17 107 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92177902 92177902 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:92177902G>A uc001doh.2 - 13 2530 c.2064C>T c.(2062-2064)TTC>TTT p.F688F TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Silent_p.F646F|TGFBR3_uc001doi.2_Silent_p.F687F|TGFBR3_uc001doj.2_Silent_p.F687F NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 688 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGACAAAGCTGAATCGCTTCT 0.448 14 104 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100366315 100366315 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:100366315G>T uc001dsi.1 + 26 3886 c.3486G>T c.(3484-3486)CAG>CAT p.Q1162H AGL_uc001dsj.1_Missense_Mutation_p.Q1162H|AGL_uc001dsk.1_Missense_Mutation_p.Q1162H|AGL_uc001dsl.1_Missense_Mutation_p.Q1162H|AGL_uc001dsm.1_Missense_Mutation_p.Q1146H|AGL_uc001dsn.1_Missense_Mutation_p.Q1145H NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1162 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGTGTATCCAGGATTACTGTA 0.468 8 380 --- --- --- --- PASS MIR553 693138 broad.mit.edu 37 1 100746847 100746847 + RNA SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:100746847C>T hsa-mir-553|MI0003558 + c.51C>T RTCD1_uc001dtd.2_Intron|RTCD1_uc001dtc.2_Intron 0 GAGAAAATCTCGCTGTTTTAG 0.090 11 108 --- --- --- --- PASS S1PR1 1901 broad.mit.edu 37 1 101705208 101705208 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:101705208G>A uc001dud.2 + 2 1182 c.668G>A c.(667-669)AGA>AAA p.R223K S1PR1_uc009weg.2_Missense_Mutation_p.R223K NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 223 Cytoplasmic (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 CTGTACTGCAGAATCTACTCC 0.572 50 187 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111494566 111494566 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:111494566C>T uc001eaa.2 - 2 1196 c.940G>A c.(940-942)GCT>ACT p.A314T C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) ATCTTTGAAGCCACATTATTT 0.378 20 95 --- --- --- --- PASS ADORA3 140 broad.mit.edu 37 1 112029246 112029246 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:112029246G>A uc001ebf.2 - 4 1601 c.834C>T c.(832-834)TGC>TGT p.C278C ADORA3_uc001ebg.3_Silent_p.C197C NM_020683 NP_065734 P33765 AA3R_HUMAN adenosine A3 receptor isoform 1 Error:Variant_position_missing_in_P33765_after_alignment activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGGGAGCCTTGCAGCTTCTGG 0.577 11 40 --- --- --- --- PASS WNT2B 7482 broad.mit.edu 37 1 113059968 113059968 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:113059968G>C uc001ecb.2 + 4 1422 c.907G>C c.(907-909)GAC>CAC p.D303H WNT2B_uc001eca.2_Missense_Mutation_p.D284H|WNT2B_uc009wgg.2_Missense_Mutation_p.D211H NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 303 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTCTACTTTGACAACTCTCC 0.572 3 79 --- --- --- --- PASS PHTF1 10745 broad.mit.edu 37 1 114247382 114247382 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:114247382G>C uc009wgp.1 - 13 2161 c.1709C>G c.(1708-1710)TCT>TGT p.S570C PHTF1_uc001edn.2_Missense_Mutation_p.S570C|PHTF1_uc001edm.2_Missense_Mutation_p.S327C NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 570 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTCCTGGCAGAAGTAATATG 0.313 17 132 --- --- --- --- PASS FCGR1A 2209 broad.mit.edu 37 1 149760129 149760129 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:149760129G>A uc001esp.3 + 4 565 c.515G>A c.(514-516)GGA>GAA p.G172E HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA|FCGR1A_uc009wlh.1_RNA NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 172 Ig-like C2-type 2.|Extracellular (Potential). interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCAGGCATGGGAAAGCATCGC 0.393 5 238 --- --- --- --- PASS HIST2H2BE 8349 broad.mit.edu 37 1 149858143 149858143 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:149858143C>T uc001etc.2 - 1 90 c.48G>A c.(46-48)AAG>AAA p.K16K HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 16 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGACGGCTTTCTTGGAGCCCT 0.532 65 311 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152191617 152191617 + Nonsense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:152191617G>A uc001ezt.1 - 3 2564 c.2488C>T c.(2488-2490)CAG>TAG p.Q830* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 830 8. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAACCATGCTGACTATAGCCC 0.547 31 123 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152275409 152275409 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:152275409C>G uc001ezu.1 - 3 11989 c.11953G>C c.(11953-11955)GAT>CAT p.D3985H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3985 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACCATAATCATAATCTGCA 0.398 Ichthyosis 48 215 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281208 152281208 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:152281208C>A uc001ezu.1 - 3 6190 c.6154G>T c.(6154-6156)GAA>TAA p.E2052* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2052 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGAGTCTTCTGAATGTCCC 0.562 Ichthyosis 128 791 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154042813 154042813 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:154042813G>A uc001fdw.2 - 17 2562 c.2490C>T c.(2488-2490)TTC>TTT p.F830F NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.F830F NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 830 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TATAATCTTCGAAATGGGCTA 0.378 34 162 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156507057 156507057 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:156507057C>T uc001fpf.2 - 27 3413 c.3338G>A c.(3337-3339)AGA>AAA p.R1113K NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1113 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCCAGTCGTCTCTGGACCTC 0.557 7 121 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 171956860 171956860 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:171956860G>T uc001gie.2 + 3 476 c.300G>T c.(298-300)GAG>GAT p.E100D DNM3_uc001gid.3_Missense_Mutation_p.E100D|DNM3_uc009wwb.2_Missense_Mutation_p.E100D|DNM3_uc001gif.2_Missense_Mutation_p.E100D NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 100 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TTCGCCTTGAGATTGAAGCAG 0.343 19 276 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564447 176564447 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:176564447C>A uc001gkz.2 + 3 2871 c.1707C>A c.(1705-1707)GTC>GTA p.V569V PAPPA2_uc001gky.1_Silent_p.V569V|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 569 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGCTGAGCGTCCACCAGGTCC 0.572 19 111 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186157078 186157078 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:186157078G>C uc001grq.1 + 106 16707 c.16478G>C c.(16477-16479)AGA>ACA p.R5493T HMCN1_uc001grs.1_Missense_Mutation_p.R945T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5493 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTCAACATGAGAGGAAGCTAC 0.502 38 248 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067726 190067726 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:190067726G>T uc001gse.1 - 8 1955 c.1723C>A c.(1723-1725)CCC>ACC p.P575T FAM5C_uc010pot.1_Missense_Mutation_p.P473T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 575 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CCTCCGAAGGGATTGACATAA 0.468 40 336 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200972830 200972830 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:200972830G>A uc001gvs.1 - 8 1413 c.1096C>T c.(1096-1098)CGG>TGG p.R366W KIF21B_uc001gvr.1_Missense_Mutation_p.R366W|KIF21B_uc009wzl.1_Missense_Mutation_p.R366W|KIF21B_uc010ppn.1_Missense_Mutation_p.R366W|KIF21B_uc001gvt.1_Missense_Mutation_p.R224W NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 366 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TTGCGGGCCCGATTGGCATAT 0.552 30 221 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206623739 206623739 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:206623739C>G uc001hdy.2 + 16 2180 c.1847C>G c.(1846-1848)CCT>CGT p.P616R SRGAP2_uc010prt.1_Missense_Mutation_p.P539R|SRGAP2_uc001hdx.2_Missense_Mutation_p.P616R|SRGAP2_uc010pru.1_Missense_Mutation_p.P539R|SRGAP2_uc010prv.1_Missense_Mutation_p.P540R NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 703 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AGTGATAGCCCTCATGGAGAG 0.552 6 93 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216061896 216061896 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:216061896G>A uc001hku.1 - 41 8482 c.8095C>T c.(8095-8097)CGG>TGG p.R2699W NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2699 Extracellular (Potential).|Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCAGTACCCGATATTCATAT 0.493 HNSCC(13;0.011) 9 110 --- --- --- --- PASS GPATCH2 55105 broad.mit.edu 37 1 217784282 217784282 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:217784282C>G uc001hlf.1 - 4 1063 c.967G>C c.(967-969)GAA>CAA p.E323Q GPATCH2_uc001hlg.3_Missense_Mutation_p.E323Q NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 323 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AAGATACTTTCAAAGACAGGA 0.453 22 179 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228444513 228444513 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:228444513G>C uc009xez.1 + 15 4515 c.4471G>C c.(4471-4473)GAG>CAG p.E1491Q OBSCN_uc001hsn.2_Missense_Mutation_p.E1491Q NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1491 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGTGCGCATGGAGGCTGTGGG 0.672 22 174 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228475624 228475624 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:228475624C>T uc009xez.1 + 36 9818 c.9774C>T c.(9772-9774)TTC>TTT p.F3258F OBSCN_uc001hsn.2_Silent_p.F3258F|OBSCN_uc001hsq.1_Silent_p.F514F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3258 Ig-like 32. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CATGCTCCTTCGGGGACCAGA 0.617 11 111 --- --- --- --- PASS TAF5L 27097 broad.mit.edu 37 1 229730377 229730377 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:229730377G>A uc001htq.2 - 5 1603 c.1437C>T c.(1435-1437)AAC>AAT p.N479N NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 479 WD 5. histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) AGTACTTACCGTTGGGAGAAA 0.587 27 338 --- --- --- --- PASS C1orf198 84886 broad.mit.edu 37 1 230979318 230979318 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:230979318C>A uc001hub.2 - 3 753 c.709G>T c.(709-711)GAC>TAC p.D237Y C1orf198_uc009xfh.1_Missense_Mutation_p.D107Y|C1orf198_uc001huc.1_Missense_Mutation_p.D20Y|C1orf198_uc001hud.1_Missense_Mutation_p.D199Y NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 237 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GCCTCCCTGTCCTTCGGGGCA 0.632 18 146 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233394590 233394590 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:233394590C>T uc001hvl.2 - 5 1253 c.1018G>A c.(1018-1020)GAC>AAC p.D340N PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 340 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AAGGGCAGGTCCCCCTGGCAG 0.572 28 237 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235383152 235383152 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:235383152G>A uc001hwq.2 - 16 2037 c.1539C>T c.(1537-1539)TCC>TCT p.S513S ARID4B_uc001hwr.2_Silent_p.S513S|ARID4B_uc001hws.3_Silent_p.S513S|ARID4B_uc001hwt.3_Silent_p.S194S NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 513 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTATGTTGAGGGATTCATCTA 0.343 8 230 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235937219 235937219 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:235937219C>G uc001hxj.2 - 19 5882 c.5707G>C c.(5707-5709)GAC>CAC p.D1903H LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1903 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCATTAGAGTCTACATCCAAC 0.328 Chediak-Higashi_syndrome 12 138 --- --- --- --- PASS ERO1LB 56605 broad.mit.edu 37 1 236399131 236399131 + Nonsense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:236399131G>A uc001hxt.2 - 8 887 c.631C>T c.(631-633)CGA>TGA p.R211* NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 211 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TAAACAGATCGAGGCCTGAAA 0.338 17 116 --- --- --- --- PASS HEATR1 55127 broad.mit.edu 37 1 236727888 236727888 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:236727888C>G uc001hyd.1 - 32 4634 c.4509G>C c.(4507-4509)GAG>GAC p.E1503D HEATR1_uc009xgh.1_Missense_Mutation_p.E665D NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1503 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TAGTGTGAGTCTCTACATTAA 0.363 22 168 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237604775 237604775 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:237604775C>A uc001hyl.1 + 13 1282 c.1162C>A c.(1162-1164)CAA>AAA p.Q388K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 388 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGATCTATACAACGTAAGGT 0.343 8 149 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237868571 237868571 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:237868571T>C uc001hyl.1 + 67 9628 c.9508T>C c.(9508-9510)TTT>CTT p.F3170L RYR2_uc010pxz.1_Missense_Mutation_p.F125L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3170 Helical; Name=M''; (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCTGTAGCATTTTTGGAAAC 0.398 17 13 --- --- --- --- PASS HNRNPU 3192 broad.mit.edu 37 1 245027180 245027180 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:245027180C>T uc001iaz.1 - 1 648 c.430G>A c.(430-432)GAG>AAG p.E144K HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.E144K|HNRNPU_uc001ibb.1_Intron NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 144 Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TCCCCGAGCTCATCTTCCCCT 0.711 15 121 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419770 247419770 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:247419770A>G uc010pyu.1 + 2 397 c.397A>G c.(397-399)ATC>GTC p.I133V NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 133 Helical; Name=4; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) GGGCCTCTCCATCTGCACCCC 0.473 82 140 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769106 247769106 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:247769106C>T uc010pyz.1 + 1 219 c.219C>T c.(217-219)TTC>TTT p.F73F NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACATCTGCTTCACTACTAGCC 0.443 75 619 --- --- --- --- PASS OR13G1 441933 broad.mit.edu 37 1 247835987 247835987 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:247835987G>C uc001idi.1 - 1 357 c.357C>G c.(355-357)CGC>CGG p.R119R NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 119 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCCACATAGCGGTCATAGG 0.458 47 68 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343428 248343428 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:248343428C>T uc010pzf.1 + 1 141 c.141C>T c.(139-141)CTC>CTT p.L47L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATGGTTCTCCTCATCTACC 0.527 387 483 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436606 248436606 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:248436606C>A uc010pzi.1 - 1 511 c.511G>T c.(511-513)GAG>TAG p.E171* NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGATCGATCTCGTGTGCACCA 0.547 7 68 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248524910 248524910 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr1:248524910C>A uc001ieh.1 + 1 28 c.28C>A c.(28-30)CAC>AAC p.H10N NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGGCCAGCCACACTGGATG 0.483 69 82 --- --- --- --- PASS KLF11 8462 broad.mit.edu 37 2 10188682 10188682 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:10188682C>G uc002raf.1 + 3 1380 c.1218C>G c.(1216-1218)TTC>TTG p.F406L KLF11_uc010yjc.1_Missense_Mutation_p.F389L NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 406 C2H2-type 1. apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) AGACCTACTTCAAAAGTTCCC 0.542 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 167 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24524941 24524941 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:24524941C>T uc002rfe.2 - 10 1146 c.888G>A c.(886-888)CAG>CAA p.Q296Q ITSN2_uc002rff.2_Silent_p.Q296Q|ITSN2_uc002rfg.2_Silent_p.Q296Q|ITSN2_uc010eyd.2_Silent_p.Q321Q NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 296 EH 2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCTTTTAGCTGTCCATCAC 0.388 28 70 --- --- --- --- PASS CIB4 130106 broad.mit.edu 37 2 26864137 26864137 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:26864137C>T uc002rhm.2 - 1 75 c.46G>A c.(46-48)GAG>AAG p.E16K NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 16 calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGGTACTCTTCCAGGTCC 0.547 56 314 --- --- --- --- PASS SLC30A6 55676 broad.mit.edu 37 2 32445321 32445321 + Nonsense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:32445321G>T uc002roe.1 + 14 962 c.925G>T c.(925-927)GAA>TAA p.E309* SLC30A6_uc002rof.1_Nonsense_Mutation_p.E349*|SLC30A6_uc010ymw.1_Nonsense_Mutation_p.E280*|SLC30A6_uc010ezr.1_Nonsense_Mutation_p.E286*|SLC30A6_uc002rog.1_Nonsense_Mutation_p.E112*|SLC30A6_uc010ezs.1_Nonsense_Mutation_p.E235*|SLC30A6_uc002roh.1_Nonsense_Mutation_p.E112* NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 309 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AGATGCCAATGAACAAATGGT 0.378 26 95 --- --- --- --- PASS STRN 6801 broad.mit.edu 37 2 37085108 37085108 + Silent SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:37085108A>T uc002rpn.2 - 14 1737 c.1728T>A c.(1726-1728)GCT>GCA p.A576A STRN_uc010ezx.2_Silent_p.A539A NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 576 WD 3. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTGCACTATAAGCCAAACCCC 0.443 4 30 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37255256 37255256 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:37255256C>T uc002rpp.1 - 24 3759 c.3663G>A c.(3661-3663)GAG>GAA p.E1221E NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1221 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CATCATCCATCTCATCTTTCT 0.403 4 110 --- --- --- --- PASS PRKD3 23683 broad.mit.edu 37 2 37543546 37543546 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:37543546G>C uc002rqd.2 - 1 677 c.122C>G c.(121-123)TCT>TGT p.S41C PRKD3_uc002rqf.1_Missense_Mutation_p.S41C NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 41 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) GCTTCCATTAGAGAGTCGGGC 0.512 21 171 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39214723 39214723 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:39214723G>C uc002rrk.3 - 22 3442 c.3401C>G c.(3400-3402)TCT>TGT p.S1134C SOS1_uc002rrj.3_Missense_Mutation_p.S733C NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1134 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AGATGATACAGAAGCAGATCC 0.388 Noonan_syndrome 3 24 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48896892 48896892 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:48896892G>T uc010yol.1 + 6 3028 c.2981G>T c.(2980-2982)CGG>CTG p.R994L STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.R1041L|GTF2A1L_uc002rws.1_Missense_Mutation_p.R337L|GTF2A1L_uc010yom.1_Missense_Mutation_p.R303L|GTF2A1L_uc002rwt.2_Missense_Mutation_p.R337L NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 994 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTAAGCATTCGGGTTACTGAT 0.308 22 165 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190072 49190072 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:49190072T>C uc002rww.2 - 10 1962 c.1888A>G c.(1888-1890)ACC>GCC p.T630A FSHR_uc002rwx.2_Missense_Mutation_p.T568A|FSHR_uc010fbn.2_Missense_Mutation_p.T604A NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 630 Helical; Name=7; (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) AAGTTTTTGGTAAAGATGGCA 0.463 Gonadal_Dysgenesis_46_XX 31 83 --- --- --- --- PASS MIR217 406999 broad.mit.edu 37 2 56210178 56210178 + RNA SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:56210178T>C hsa-mir-217|MI0000293 - c.34T>C uc002rzk.2_Intron|uc010ypd.1_RNA 0 TGATGCAGTATCTGCGACATC 0.323 6 21 --- --- --- --- PASS PELI1 57162 broad.mit.edu 37 2 64321978 64321978 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:64321978G>A uc002scs.3 - 6 5154 c.1115C>T c.(1114-1116)TCA>TTA p.S372L PELI1_uc002sct.3_Missense_Mutation_p.S372L|PELI1_uc002scr.3_Missense_Mutation_p.S193L NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 372 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 TGTCTTTTCTGAACACACATG 0.512 28 169 --- --- --- --- PASS MPHOSPH10 10199 broad.mit.edu 37 2 71376996 71376996 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:71376996G>A uc002sht.1 + 11 2249 c.1897G>A c.(1897-1899)GAT>AAT p.D633N NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 633 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 TTAATTGCAGGATGAAGGTAA 0.313 26 183 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75915073 75915073 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:75915073A>G uc002sno.2 - 11 1700 c.1570T>C c.(1570-1572)TGG>CGG p.W524R C2orf3_uc010ffs.2_Missense_Mutation_p.W86R|C2orf3_uc002snn.2_Missense_Mutation_p.W355R|C2orf3_uc010fft.2_Missense_Mutation_p.W199R NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 524 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GATTTGAACCATGGCATCTCT 0.289 15 67 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746749 77746749 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:77746749G>T uc002snr.2 - 3 661 c.246C>A c.(244-246)GCC>GCA p.A82A LRRTM4_uc002snq.2_Silent_p.A82A|LRRTM4_uc002sns.2_Silent_p.A82A|LRRTM4_uc002snt.2_Silent_p.A83A NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 82 LRR 1.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGTTAAGGCCGGCAAACTGAT 0.408 19 80 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79348732 79348732 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:79348732C>G uc002snz.2 + 3 212 c.109C>G c.(109-111)CCA>GCA p.P37A REG1A_uc010ffx.1_Missense_Mutation_p.P37A|REG1A_uc010ysd.1_Missense_Mutation_p.P37A NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 37 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GATCAGCTGCCCAGAAGGCAC 0.527 80 390 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84775530 84775530 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:84775530G>C uc010fgb.2 + 8 1442 c.1305G>C c.(1303-1305)ATG>ATC p.M435I DNAH6_uc002soo.2_Missense_Mutation_p.M14I|DNAH6_uc002sop.2_Missense_Mutation_p.M14I NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 435 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 ATTATTGCATGAGGCTGACGT 0.348 11 92 --- --- --- --- PASS ST3GAL5 8869 broad.mit.edu 37 2 86088343 86088343 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:86088343G>T uc002sqq.1 - 3 408 c.279C>A c.(277-279)GAC>GAA p.D93E ST3GAL5_uc010ysy.1_Missense_Mutation_p.D93E|ST3GAL5_uc010ysz.1_Missense_Mutation_p.D93E|ST3GAL5_uc010fgq.1_5'UTR|ST3GAL5_uc002sqp.1_Missense_Mutation_p.D70E NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 93 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 TTTTTTTCATGTCACATTCTT 0.333 8 73 --- --- --- --- PASS IMMT 10989 broad.mit.edu 37 2 86378500 86378500 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:86378500C>T uc002sqz.3 - 12 1709 c.1321G>A c.(1321-1323)GAA>AAA p.E441K IMMT_uc002sqy.3_Missense_Mutation_p.E182K|IMMT_uc002srb.3_Missense_Mutation_p.E430K|IMMT_uc002sra.3_Missense_Mutation_p.E440K|IMMT_uc010ytd.1_Missense_Mutation_p.E429K|IMMT_uc010yte.1_Missense_Mutation_p.E394K|IMMT_uc002src.1_Missense_Mutation_p.E177K NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 441 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 GCCCGCTTTTCTTCCAGCTTT 0.448 18 123 --- --- --- --- PASS THNSL2 55258 broad.mit.edu 37 2 88474877 88474877 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:88474877C>A uc002ssz.3 + 4 681 c.528C>A c.(526-528)CTC>CTA p.L176L THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Silent_p.L176L|THNSL2_uc002ssx.3_Silent_p.L144L|THNSL2_uc002sta.3_Silent_p.L18L|THNSL2_uc002ssy.3_Silent_p.L176L|THNSL2_uc010fhe.2_Silent_p.L18L NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 176 threonine biosynthetic process threonine synthase activity ovary(1) 1 TTCAGGAGCTCCAGATGACAA 0.522 20 80 --- --- --- --- PASS ZNF514 84874 broad.mit.edu 37 2 95815590 95815590 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:95815590G>A uc002sue.1 - 5 1014 c.640C>T c.(640-642)CAC>TAC p.H214Y ZNF514_uc002sud.1_Missense_Mutation_p.H287Y NM_032788 NP_116177 Q96K75 ZN514_HUMAN zinc finger protein 514 214 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACTGGAAGTGAAAGGACTTC 0.448 64 313 --- --- --- --- PASS GPAT2 150763 broad.mit.edu 37 2 96690252 96690252 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:96690252T>C uc002svf.2 - 15 1815 c.1592A>G c.(1591-1593)CAG>CGG p.Q531R GPAT2_uc002svd.2_Missense_Mutation_p.Q350R|GPAT2_uc002sve.2_Missense_Mutation_p.Q333R|GPAT2_uc002svg.2_Missense_Mutation_p.Q410R|GPAT2_uc010yuh.1_Missense_Mutation_p.Q460R|GPAT2_uc002svh.2_Missense_Mutation_p.Q531R NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 531 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 TGGGCCAGGCTGCGGCACCAC 0.677 44 177 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125660566 125660566 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:125660566C>A uc002tno.2 + 22 3905 c.3541C>A c.(3541-3543)CGC>AGC p.R1181S CNTNAP5_uc010flu.2_Missense_Mutation_p.R1182S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1181 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCTGCCCTGCGCCATGCCAC 0.537 10 27 --- --- --- --- PASS AMMECR1L 83607 broad.mit.edu 37 2 128628485 128628485 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:128628485C>A uc002tpl.2 - 5 787 c.536G>T c.(535-537)CGA>CTA p.R179L AMMECR1L_uc002tpm.2_Missense_Mutation_p.R179L NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN AMME chromosomal region gene 1-like 179 AMMECR1. central_nervous_system(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) GGGGGGAAATCGGCTGTCCTT 0.517 6 36 --- --- --- --- PASS PLA2R1 22925 broad.mit.edu 37 2 160803951 160803951 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:160803951G>C uc002ube.1 - 26 4036 c.3829C>G c.(3829-3831)CAT>GAT p.H1277D PLA2R1_uc010zcp.1_Missense_Mutation_p.H1277D|PLA2R1_uc002ubf.2_Missense_Mutation_p.H1277D NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 1277 Extracellular (Potential).|C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CAAAATTCATGAGCAGCCTCA 0.348 26 121 --- --- --- --- PASS PLA2R1 22925 broad.mit.edu 37 2 160824165 160824165 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:160824165G>A uc002ube.1 - 20 2996 c.2789C>T c.(2788-2790)TCA>TTA p.S930L PLA2R1_uc010zcp.1_Missense_Mutation_p.S930L|PLA2R1_uc002ubf.2_Missense_Mutation_p.S930L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 930 Extracellular (Potential).|C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 CATAGAAACTGAACACTCTTC 0.408 28 130 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163241255 163241255 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:163241255C>T uc002uch.1 - 13 3117 c.2905G>A c.(2905-2907)GAA>AAA p.E969K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 969 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GGCACTGTTTCTTCAAAATCG 0.433 43 235 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164467850 164467850 + Silent SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:164467850T>A uc002uck.1 - 3 803 c.492A>T c.(490-492)TCA>TCT p.S164S NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 164 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 AGGTACTACTTGAATAACTAG 0.507 10 71 --- --- --- --- PASS PPIG 9360 broad.mit.edu 37 2 170488434 170488434 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:170488434A>T uc002uez.2 + 11 1140 c.920A>T c.(919-921)GAA>GTA p.E307V PPIG_uc010fpx.2_Missense_Mutation_p.E292V|PPIG_uc010fpy.2_Missense_Mutation_p.E300V|PPIG_uc002ufa.2_Missense_Mutation_p.E307V|PPIG_uc002ufb.2_Missense_Mutation_p.E307V|PPIG_uc002ufd.2_Missense_Mutation_p.E304V NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 307 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) agagaaagggaaagagagTGG 0.239 10 43 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179599307 179599307 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:179599307C>G uc010zfg.1 - 49 11736 c.11512G>C c.(11512-11514)GAG>CAG p.E3838Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E499Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4765 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) TCTGCAGGCTCAAGAGTTTTG 0.363 24 137 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179600714 179600714 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:179600714C>A uc010zfg.1 - 47 10951 c.10727G>T c.(10726-10728)GGG>GTG p.G3576V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G237V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4503 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) CACAGGAGTCCCTGTCACTGT 0.453 30 86 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611982 179611982 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:179611982C>T uc002unb.2 - 46 15369 c.15145G>A c.(15145-15147)GAA>AAA p.E5049K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1153 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) GAGTATCTTTCTCCTACCTCA 0.483 24 96 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180817210 180817210 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:180817210C>G uc010frh.1 - 17 2105 c.1805G>C c.(1804-1806)AGA>ACA p.R602T CWC22_uc002uno.2_Missense_Mutation_p.R124T|CWC22_uc002unp.2_Missense_Mutation_p.R602T NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 602 catalytic step 2 spliceosome protein binding|RNA binding 0 ATCCTTTAATCTTGCATTAAG 0.358 2 12 --- --- --- --- PASS FAM171B 165215 broad.mit.edu 37 2 187626263 187626263 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:187626263C>A uc002ups.2 + 8 1306 c.1194C>A c.(1192-1194)CTC>CTA p.L398L FAM171B_uc002upr.1_Silent_p.L398L|FAM171B_uc002upt.2_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 398 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TTGAGGTCCTCAAGAGAGACC 0.358 59 270 --- --- --- --- PASS ANKRD44 91526 broad.mit.edu 37 2 197870509 197870509 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:197870509C>T uc002uua.1 - 21 2258 c.2181G>A c.(2179-2181)CTG>CTA p.L727L ANKRD44_uc002utz.3_Silent_p.L459L NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 752 ANK 22. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCAGCTCGCTCAGCCACGTGG 0.527 54 296 --- --- --- --- PASS RQCD1 9125 broad.mit.edu 37 2 219445385 219445385 + Silent SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:219445385A>T uc010zkh.1 + 2 126 c.126A>T c.(124-126)CTA>CTT p.L42L RQCD1_uc002vih.1_Silent_p.L42L|RQCD1_uc010zki.1_Silent_p.L42L NM_005444 NP_005435 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog 42 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(1)|skin(1) 2 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTGGAGCTAAGTAAGAAGC 0.463 20 103 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220337643 220337643 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:220337643C>T uc010fwg.2 + 16 3972 c.3972C>T c.(3970-3972)CAC>CAT p.H1324H NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1324 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CAGTGCAGCACCAGGTGCTGG 0.667 8 126 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225729638 225729638 + Nonsense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:225729638G>C uc010fwz.1 - 12 1663 c.1424C>G c.(1423-1425)TCA>TGA p.S475* DOCK10_uc002vob.2_Nonsense_Mutation_p.S469*|DOCK10_uc002vod.1_Nonsense_Mutation_p.S475* NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 475 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGGTTCTTCTGATTGTCTTGG 0.448 33 367 --- --- --- --- PASS SLC16A14 151473 broad.mit.edu 37 2 230923839 230923839 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr2:230923839G>C uc002vqd.1 - 2 593 c.230C>G c.(229-231)TCC>TGC p.S77C FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.S77C|SLC16A14_uc002vqf.2_Missense_Mutation_p.S77C NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN solute carrier family 16 (monocarboxylic acid 77 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(4)|skin(2) 6 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CATGCTGAGGGAGCTGACCCA 0.527 8 102 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1363468 1363468 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:1363468C>G uc003boz.2 + 8 1163 c.896C>G c.(895-897)GCA>GGA p.A299G CNTN6_uc011asj.1_Missense_Mutation_p.A227G|CNTN6_uc003bpa.2_Missense_Mutation_p.A299G NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 299 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAGTGCATTGCAAGCAACCTT 0.408 32 161 --- --- --- --- PASS WNT7A 7476 broad.mit.edu 37 3 13921278 13921278 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:13921278G>C uc003bye.1 - 1 341 c.36C>G c.(34-36)CTC>CTG p.L12L NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 12 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 GGCTGAGAAAGAGGTGGCCCA 0.493 14 50 --- --- --- --- PASS LAMB2 3913 broad.mit.edu 37 3 49161171 49161171 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:49161171C>G uc003cwe.2 - 24 4086 c.3787G>C c.(3787-3789)GAG>CAG p.E1263Q USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1263 Domain II.|Potential. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGCAGCTCCTCTGTGGCCTCC 0.617 36 106 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 65425633 65425633 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:65425633C>T uc003dmn.2 - 9 1717 c.1191G>A c.(1189-1191)AAG>AAA p.K397K MAGI1_uc003dmm.2_Silent_p.K397K|MAGI1_uc003dmo.2_Silent_p.K397K|MAGI1_uc003dmp.2_Silent_p.K397K|MAGI1_uc010hny.2_Silent_p.K282K NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 397 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CAAGCTGCTTCTTCCGTTTGG 0.323 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 87 --- --- --- --- PASS OR5H2 79310 broad.mit.edu 37 3 98002374 98002374 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:98002374A>G uc003dsj.1 + 1 643 c.643A>G c.(643-645)ACC>GCC p.T215A NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 TCAGGTATTCACCATTGTGAC 0.348 18 76 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108175640 108175640 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:108175640C>G uc003dxa.1 - 20 2228 c.2171G>C c.(2170-2172)CGA>CCA p.R724P NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 724 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ATACTGCAGTCGGTTTGGAAA 0.443 62 214 --- --- --- --- PASS C3orf27 23434 broad.mit.edu 37 3 128292266 128292266 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:128292266G>C uc003ekq.2 - 3 1274 c.307C>G c.(307-309)CTG>GTG p.L103V NM_007354 NP_031380 O15544 GR6_HUMAN putative GR6 protein 103 0 GBM - Glioblastoma multiforme(114;0.176) TGGCACAGCAGAGTCCTGGCA 0.577 34 170 --- --- --- --- PASS NUDT16 131870 broad.mit.edu 37 3 131100970 131100970 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:131100970G>A uc003eof.2 + 2 161 c.120G>A c.(118-120)CTG>CTA p.L40L uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Silent_p.L27L|NUDT16_uc003eog.1_Silent_p.L40L NM_152395 NP_689608 Q96DE0 NUD16_HUMAN nudix-type motif 16 73 Nudix box.|Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding 0 AGGACGGGCTGAACCGCGAGC 0.692 21 136 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147114180 147114180 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:147114180C>A uc003ewd.1 - 3 420 c.147G>T c.(145-147)GAG>GAT p.E49D ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.E99D NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 49 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CCTGGGGAGGCTCCTCGTGGA 0.687 21 73 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151072956 151072956 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:151072956C>G uc003eyp.2 + 16 2379 c.2341C>G c.(2341-2343)CCA>GCA p.P781A MED12L_uc011bnz.1_Missense_Mutation_p.P641A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'Flank NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 781 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGAGACATTTCCAACACTGGA 0.378 19 130 --- --- --- --- PASS SAMD7 344658 broad.mit.edu 37 3 169644860 169644860 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:169644860G>T uc003fgd.2 + 6 1077 c.810G>T c.(808-810)CTG>CTT p.L270L SAMD7_uc003fge.2_Silent_p.L270L|SAMD7_uc011bpo.1_Silent_p.L171L NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 270 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CCACTACCCTGAAAGCAAAGG 0.532 5 224 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 50 105 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183041140 183041140 + Splice_Site SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:183041140C>A uc003fli.1 - 6 577 c.487_splice c.e6-1 p.I163_splice MCF2L2_uc003flj.1_Splice_Site_p.I163_splice|MCF2L2_uc003flp.1_Splice_Site_p.I198_splice NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CCATGATGATCTGTAAGGTAA 0.338 38 148 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192516700 192516700 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr3:192516700G>C uc011bsp.1 - 2 1272 c.951C>G c.(949-951)ATC>ATG p.I317M NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 317 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GCAGTTTAATGATGATGGCTT 0.557 20 92 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3230464 3230464 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:3230464C>G uc011bvq.1 + 59 8122 c.7977C>G c.(7975-7977)GTC>GTG p.V2659V NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2657 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CGTCTCCAGTCAACTCCAGGT 0.383 24 114 --- --- --- --- PASS ACOX3 8310 broad.mit.edu 37 4 8416093 8416093 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:8416093C>A uc010idk.2 - 5 614 c.469G>T c.(469-471)GCT>TCT p.A157S ACOX3_uc003glc.3_Missense_Mutation_p.A157S|ACOX3_uc003gld.3_Missense_Mutation_p.A157S|ACOX3_uc003gle.1_Missense_Mutation_p.A62S NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 157 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 TCGGTCAGAGCAAAACATCCA 0.468 4 117 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13604368 13604368 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:13604368G>C uc003gmz.1 - 10 4273 c.4156C>G c.(4156-4158)CTT>GTT p.L1386V BOD1L_uc010idr.1_Missense_Mutation_p.L723V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1386 DNA binding ovary(5)|breast(1) 6 TTACTTCCAAGAGGCATGATT 0.408 4 138 --- --- --- --- PASS C1QTNF7 114905 broad.mit.edu 37 4 15437466 15437466 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:15437466C>T uc011bxb.1 + 2 326 c.99C>T c.(97-99)ATC>ATT p.I33I C1QTNF7_uc003gno.2_Silent_p.I40I|C1QTNF7_uc003gnp.2_Silent_p.I33I NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 33 collagen 0 CCAGGTATATCTGCAGCATTC 0.542 18 60 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 74005638 74005638 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:74005638G>T uc003hgp.2 - 15 2812 c.2695C>A c.(2695-2697)CAG>AAG p.Q899K ANKRD17_uc003hgo.2_Missense_Mutation_p.Q786K|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q899K|ANKRD17_uc011cbd.1_Missense_Mutation_p.Q464K NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 899 Gln-rich. 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) TGCTGTTGCTGAAGTTGAATT 0.438 32 210 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76805905 76805905 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:76805905G>A uc003hix.2 - 8 945 c.588C>T c.(586-588)CTC>CTT p.L196L PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.L196L NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 196 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTGGCGACGGGAGGCCATTCT 0.433 55 297 --- --- --- --- PASS BMP2K 55589 broad.mit.edu 37 4 79782588 79782588 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:79782588G>A uc003hlk.2 + 9 1199 c.1033G>A c.(1033-1035)GAA>AAA p.E345K BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.E345K NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 345 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 GACTGCTAGTGAAGCAGCTGC 0.294 5 23 --- --- --- --- PASS PPM1K 152926 broad.mit.edu 37 4 89199700 89199700 + Silent SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:89199700A>G uc003hrm.3 - 2 426 c.36T>C c.(34-36)AGT>AGC p.S12S PPM1K_uc010ikp.1_Silent_p.S12S|PPM1K_uc003hrn.2_Silent_p.S12S NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 12 protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GGTTCCCACCACTTCTGACCA 0.517 12 68 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96761311 96761311 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:96761311G>A uc003htr.3 + 1 73 c.10G>A c.(10-12)GCC>ACC p.A4T NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 4 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TATGCTGGCCGCCTTCATCTC 0.587 6 57 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102965044 102965044 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:102965044G>A uc003hvy.3 + 11 2223 c.1949G>A c.(1948-1950)TGT>TAT p.C650Y BANK1_uc003hvx.3_Missense_Mutation_p.C635Y|BANK1_uc010ill.2_Missense_Mutation_p.C517Y|BANK1_uc003hvz.3_Missense_Mutation_p.C620Y NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 650 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GACAAGTTCTGTGGTCTTCCT 0.313 33 139 --- --- --- --- PASS NHEDC2 133308 broad.mit.edu 37 4 103971519 103971519 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:103971519G>T uc003hwx.3 - 5 1335 c.463C>A c.(463-465)CTC>ATC p.L155I NHEDC2_uc010iln.1_Missense_Mutation_p.L7I|NHEDC2_uc003hwy.2_Missense_Mutation_p.L155I|NHEDC2_uc011cew.1_Missense_Mutation_p.L98I|NHEDC2_uc011cex.1_Missense_Mutation_p.L98I|NHEDC2_uc011cey.1_Missense_Mutation_p.L98I NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 155 Helical; (Potential). sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) TTTCTGATGAGAAACCCTGCA 0.368 14 72 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104032074 104032074 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:104032074C>T uc003hxb.1 - 47 7725 c.7635G>A c.(7633-7635)TTG>TTA p.L2545L CENPE_uc003hxc.1_Silent_p.L2424L NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2545 Potential.|Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GTTCACTTTTCAAAATAAGAG 0.348 32 167 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113483616 113483616 + Silent SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:113483616A>G uc003iau.2 - 18 4819 c.4608T>C c.(4606-4608)TGT>TGC p.C1536C C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_5'Flank NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 358 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TGCTAGCATTACAAACCAATA 0.363 7 14 --- --- --- --- PASS UGT8 7368 broad.mit.edu 37 4 115585244 115585244 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:115585244A>G uc003ibs.2 + 3 1438 c.916A>G c.(916-918)AAC>GAC p.N306D UGT8_uc003ibt.2_Missense_Mutation_p.N306D|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 306 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGACATTGCTAACAAACTGGC 0.403 10 168 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122780234 122780234 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:122780234G>C uc003ied.2 - 5 615 c.441C>G c.(439-441)ATC>ATG p.I147M BBS7_uc003iee.1_Missense_Mutation_p.I147M NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 147 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 TCACATCATTGATTTTATCCC 0.418 Bardet-Biedl_syndrome 39 206 --- --- --- --- PASS IL21 59067 broad.mit.edu 37 4 123542124 123542124 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:123542124G>A uc003ies.2 - 1 88 c.43C>T c.(43-45)CTG>TTG p.L15L uc003iet.2_RNA|IL21_uc010int.2_Silent_p.L8L NM_021803 NP_068575 Q9HBE4 IL21_HUMAN interleukin 21 8 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding 0 ATGACCATCAGACAGATGACA 0.448 10 128 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126241565 126241565 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:126241565C>T uc003ifj.3 + 1 3999 c.3999C>T c.(3997-3999)CTC>CTT p.L1333L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1333 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTGGTGAACTCGTGTCCTCTG 0.358 17 213 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169197295 169197295 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:169197295C>T uc003irp.2 - 15 2308 c.2016G>A c.(2014-2016)GTG>GTA p.V672V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 672 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TCCTTTTCATCACCTGAACAG 0.318 14 81 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175899051 175899051 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:175899051C>G uc003iuc.2 + 5 3045 c.2375C>G c.(2374-2376)CCT>CGT p.P792R ADAM29_uc003iud.2_Missense_Mutation_p.P792R|ADAM29_uc010irr.2_Missense_Mutation_p.P792R|ADAM29_uc011cki.1_Missense_Mutation_p.P792R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 792 Cytoplasmic (Potential).|6.|9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CAGTTGACGCCTTCCCAGAGT 0.572 38 204 --- --- --- --- PASS WWC2 80014 broad.mit.edu 37 4 184182146 184182146 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr4:184182146G>C uc010irx.2 + 11 1552 c.1370G>C c.(1369-1371)AGC>ACC p.S457T WWC2_uc003ivk.3_Missense_Mutation_p.S252T|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.S139T|WWC2_uc003ivn.3_Missense_Mutation_p.S21T NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 457 Ser-rich. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) AACACCTCCAGCAGAGGGTCA 0.512 11 51 --- --- --- --- PASS LRRC14B 389257 broad.mit.edu 37 5 195364 195364 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:195364G>T uc003jal.1 + 2 1469 c.1441G>T c.(1441-1443)GAC>TAC p.D481Y NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 481 skin(1) 1 TGGAAGTTTTGACCCAGACAT 0.498 30 243 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6602600 6602600 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:6602600G>A uc003jdu.2 - 18 2036 c.1971C>T c.(1969-1971)ATC>ATT p.I657I NSUN2_uc003jds.2_Silent_p.I103I|NSUN2_uc003jdt.2_Silent_p.I421I|NSUN2_uc011cmk.1_Silent_p.I622I|NSUN2_uc003jdv.2_Silent_p.I421I NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 657 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 ACTTCAGCACGATGCTTCCCT 0.478 198 447 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33534985 33534985 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:33534985G>T uc003jia.1 - 23 4722 c.4559C>A c.(4558-4560)CCT>CAT p.P1520H ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1435H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1520 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GAATTCTGGAGGTCTGGGTTT 0.483 HNSCC(64;0.19) 68 155 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37201803 37201803 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:37201803G>T uc011cpa.1 - 19 3628 c.3397C>A c.(3397-3399)CTG>ATG p.L1133M C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L208M|C5orf42_uc011cpb.1_Missense_Mutation_p.L14M NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1133 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAGTCTATCAGAAGTTGAAAT 0.448 31 205 --- --- --- --- PASS HMGCS1 3157 broad.mit.edu 37 5 43299062 43299062 + Silent SNP A C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:43299062A>C uc003jnr.3 - 3 213 c.6T>G c.(4-6)CCT>CCG p.P2P HMGCS1_uc003jnq.3_Silent_p.P2P NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 2 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 GAAGTGATCCAGGCATGGTGA 0.358 24 170 --- --- --- --- PASS PAIP1 10605 broad.mit.edu 37 5 43536991 43536991 + Missense_Mutation SNP C T T rs140543083 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:43536991C>T uc003job.2 - 6 1149 c.902G>A c.(901-903)CGA>CAA p.R301Q PAIP1_uc003joa.2_Missense_Mutation_p.R222Q|PAIP1_uc010ivp.2_Missense_Mutation_p.R222Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.R189Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 301 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) CAGCAATTCTCGAAGACCAAC 0.323 22 71 --- --- --- --- PASS MOCS2 4338 broad.mit.edu 37 5 52404424 52404424 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:52404424G>A uc011cqf.1 - 2 107 c.68C>T c.(67-69)TCA>TTA p.S23L MOCS2_uc003joz.2_5'UTR|uc003jpb.1_5'Flank NM_176806 NP_789776 O96033 MOC2A_HUMAN molybdopterin synthase small subunit MOCS2A 23 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding 0 Lung NSC(810;3.08e-05)|Breast(144;0.0848) AATGGTCTCTGAACGAACTCC 0.358 19 92 --- --- --- --- PASS CDC20B 166979 broad.mit.edu 37 5 54420686 54420686 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:54420686C>T uc003jpo.1 - 9 1335 c.1160G>A c.(1159-1161)GGT>GAT p.G387D CDC20B_uc003jpn.1_Missense_Mutation_p.G387D|CDC20B_uc010ivu.1_Missense_Mutation_p.G387D|CDC20B_uc010ivv.1_3'UTR NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 387 WD 4. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGCACTGGCACCTGGATCGTG 0.542 22 102 --- --- --- --- PASS PDE4D 5144 broad.mit.edu 37 5 58272239 58272239 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:58272239C>T uc003jsa.2 - 13 1940 c.1768G>A c.(1768-1770)GAA>AAA p.E590K PDE4D_uc003jrx.2_Missense_Mutation_p.E454K|PDE4D_uc003jry.2_Missense_Mutation_p.E288K|PDE4D_uc003jrz.2_Missense_Mutation_p.E526K|PDE4D_uc003jsb.2_Missense_Mutation_p.E529K|PDE4D_uc003jrt.2_Missense_Mutation_p.E288K|PDE4D_uc003jru.2_Missense_Mutation_p.E366K|PDE4D_uc003jrv.2_Missense_Mutation_p.E460K|PDE4D_uc003jrw.2_Missense_Mutation_p.E468K|PDE4D_uc003jrs.2_Missense_Mutation_p.E299K NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 590 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TTCTTAGTTTCAACCATAGTC 0.353 7 16 --- --- --- --- PASS PPWD1 23398 broad.mit.edu 37 5 64859172 64859172 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:64859172G>A uc003jtv.3 + 1 42 c.35G>A c.(34-36)AGA>AAA p.R12K PPWD1_uc011cqv.1_5'UTR|PPWD1_uc011cqw.1_5'UTR|CENPK_uc003jts.2_5'Flank|CENPK_uc003jtt.2_5'Flank|CENPK_uc003jtu.2_5'Flank NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat 12 Poly-Arg. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TTTCAGCAGAGACGTAGAAGG 0.567 19 116 --- --- --- --- PASS NLN 57486 broad.mit.edu 37 5 65073347 65073347 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:65073347G>C uc003juf.2 + 4 660 c.544G>C c.(544-546)GAA>CAA p.E182Q NLN_uc003jue.2_Missense_Mutation_p.E182Q|NLN_uc003jug.2_Missense_Mutation_p.E11Q NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN neurolysin precursor 182 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) CCATCTTCCTGAACAAGTACA 0.289 24 122 --- --- --- --- PASS REEP5 7905 broad.mit.edu 37 5 112257809 112257809 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:112257809C>T uc003kqe.1 - 1 223 c.79G>A c.(79-81)GAG>AAG p.E27K REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Missense_Mutation_p.E27K|REEP5_uc011cvz.1_RNA NM_005669 NP_005660 Q00765 REEP5_HUMAN receptor accessory protein 5 27 integral to membrane protein binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) GTTTTGGCCTCGAGCTTGGCC 0.677 6 61 --- --- --- --- PASS ISOC1 51015 broad.mit.edu 37 5 128440953 128440953 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:128440953C>G uc003kva.2 + 3 523 c.505C>G c.(505-507)CAA>GAA p.Q169E NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 169 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) GAGCACGGTTCAAGAAATTGA 0.398 4 80 --- --- --- --- PASS CXCL14 9547 broad.mit.edu 37 5 134914177 134914177 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:134914177C>G uc003lay.2 - 2 618 c.153G>C c.(151-153)GTG>GTC p.V51V NM_004887 NP_004878 O95715 CXL14_HUMAN small inducible cytokine B14 precursor 51 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGCTTCTTCACGTCGCTGT 0.592 7 316 --- --- --- --- PASS BRD8 10902 broad.mit.edu 37 5 137501561 137501561 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:137501561C>G uc003lcf.1 - 11 1289 c.1234G>C c.(1234-1236)GAT>CAT p.D412H BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.D191H|BRD8_uc003lcg.2_Missense_Mutation_p.D485H|BRD8_uc003lci.2_Missense_Mutation_p.D415H|BRD8_uc003lch.2_Missense_Mutation_p.D306H|BRD8_uc011cym.1_Missense_Mutation_p.D396H|BRD8_uc010jer.1_Missense_Mutation_p.D381H|BRD8_uc011cyn.1_Missense_Mutation_p.D371H NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 412 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTCTCAAAATCCAGCTCTTCA 0.463 16 141 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140236873 140236873 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140236873C>A uc003lhx.2 + 1 1240 c.1240C>A c.(1240-1242)CGC>AGC p.R414S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R414S|PCDHA10_uc011dad.1_Missense_Mutation_p.R414S NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 414 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCTGGACCGCGAGAGGGT 0.642 79 444 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604413 140604413 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140604413G>C uc003ljb.2 + 1 1336 c.1336G>C c.(1336-1338)GAC>CAC p.D446H PCDHB14_uc011dal.1_Missense_Mutation_p.D293H NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 446 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACGTCAATGACAACGCCCC 0.582 83 431 --- --- --- --- PASS PCDHB15 56121 broad.mit.edu 37 5 140626581 140626581 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140626581G>T uc003lje.2 + 1 1435 c.1435G>T c.(1435-1437)GAC>TAC p.D479Y NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 479 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACAGACAGAGACTCGGGCAC 0.657 60 205 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140711217 140711217 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140711217G>T uc003lji.1 + 1 966 c.966G>T c.(964-966)CAG>CAT p.Q322H PCDHGA1_uc011dan.1_Missense_Mutation_p.Q322H NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 322 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAGCCCAGGATGGTGCGG 0.398 41 182 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736427 140736427 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140736427G>T uc003ljq.1 + 1 1660 c.1660G>T c.(1660-1662)GAC>TAC p.D554Y PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D554Y NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 554 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTGCTGGACCAGAACGA 0.572 80 443 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140741050 140741050 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:140741050C>A uc003ljs.1 + 1 1348 c.1348C>A c.(1348-1350)CCA>ACA p.P450T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.P450T|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 450 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATAATGCCCCAGTTTTCCA 0.552 67 307 --- --- --- --- PASS TCERG1 10915 broad.mit.edu 37 5 145863154 145863154 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:145863154C>T uc003lob.2 + 14 2114 c.2074C>T c.(2074-2076)CCC>TCC p.P692S TCERG1_uc003loc.2_Missense_Mutation_p.P671S NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 692 FF 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTTTTGATCCCCGGTACTT 0.328 8 65 --- --- --- --- PASS HTR4 3360 broad.mit.edu 37 5 147889510 147889510 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:147889510G>T uc003lpn.2 - 6 749 c.585C>A c.(583-585)ACC>ACA p.T195T HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.T195T|HTR4_uc003lpj.1_Silent_p.T195T|HTR4_uc003lpk.2_Silent_p.T195T|HTR4_uc011dby.1_Silent_p.T195T|HTR4_uc003lpl.2_Silent_p.T209T|HTR4_uc003lpm.2_Silent_p.T195T|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.T195T NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 195 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CCACAGAGCAGGTGATGGCGT 0.493 14 60 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167626084 167626084 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:167626084G>T uc010jjd.2 + 16 3100 c.3100G>T c.(3100-3102)GCC>TCC p.A1034S ODZ2_uc003lzr.3_Missense_Mutation_p.A811S|ODZ2_uc003lzt.3_Missense_Mutation_p.A407S|ODZ2_uc010jje.2_Missense_Mutation_p.A305S NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTTTAGTGCTGCCCCTGGGCA 0.577 8 50 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167645606 167645606 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:167645606C>T uc010jjd.2 + 23 4683 c.4683C>T c.(4681-4683)GTC>GTT p.V1561V ODZ2_uc003lzr.3_Silent_p.V1331V|ODZ2_uc003lzt.3_Silent_p.V934V|ODZ2_uc010jje.2_Silent_p.V825V NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TCAGGGCGGTCAGCAAGAACA 0.483 54 259 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170722917 170722917 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr5:170722917G>C uc003mba.2 + 27 3085 c.3069G>C c.(3067-3069)TTG>TTC p.L1023F RANBP17_uc003mbb.2_Missense_Mutation_p.L348F|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 1023 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCAAGTTTGATAAACAGCC 0.527 T TRD@ ALL 19 131 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15517468 15517468 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:15517468G>A uc003nbj.2 + 17 3771 c.3527G>A c.(3526-3528)CGA>CAA p.R1176Q JARID2_uc011div.1_Missense_Mutation_p.R1004Q NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1176 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGTCCTGCCGAGGGCTGAAG 0.617 28 197 --- --- --- --- PASS HIST1H3B 8358 broad.mit.edu 37 6 26032007 26032007 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:26032007C>A uc003nfs.1 - 1 282 c.282G>T c.(280-282)CAG>CAT p.Q94H NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 94 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 CACAAGCCTCCTGCAGCGCCA 0.557 25 158 --- --- --- --- PASS OR11A1 26531 broad.mit.edu 37 6 29394932 29394932 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:29394932G>T uc003nmg.2 - 1 578 c.487C>A c.(487-489)CTG>ATG p.L163M NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGGCCACCAGGGCCACAACC 0.582 11 61 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29574954 29574954 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:29574954G>A uc003nmt.3 - 17 2370 c.2034C>T c.(2032-2034)TAC>TAT p.Y678Y GABBR1_uc003nmp.3_Silent_p.Y561Y|GABBR1_uc003nms.3_Silent_p.Y561Y|GABBR1_uc003nmu.3_Silent_p.Y616Y|GABBR1_uc011dlr.1_Silent_p.Y501Y NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 678 Helical; Name=3; (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) ACATGGAACCGTAGCCCAGAC 0.562 32 118 --- --- --- --- PASS DDR1 780 broad.mit.edu 37 6 30856996 30856996 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:30856996G>T uc003nrr.2 + 5 465 c.206G>T c.(205-207)GGG>GTG p.G69V DDR1_uc010jse.2_Missense_Mutation_p.G69V|DDR1_uc003nrq.2_Missense_Mutation_p.G69V|DDR1_uc003nrs.2_Missense_Mutation_p.G69V|DDR1_uc003nrt.2_Missense_Mutation_p.G69V|DDR1_uc011dms.1_Missense_Mutation_p.G87V|DDR1_uc011dmt.1_Missense_Mutation_p.G95V|DDR1_uc003nru.2_Missense_Mutation_p.G69V|DDR1_uc011dmu.1_Missense_Mutation_p.G69V|DDR1_uc003nrv.2_Missense_Mutation_p.G69V|DDR1_uc003nrw.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 69 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) AGCAGTGACGGGGATGGGGCC 0.602 71 484 --- --- --- --- PASS MSH5 4439 broad.mit.edu 37 6 31725965 31725965 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:31725965G>A uc003nwv.1 + 13 1117 c.1038G>A c.(1036-1038)CTG>CTA p.L346L MSH5_uc003nwt.1_Silent_p.L363L|MSH5_uc003nwu.1_Silent_p.L346L|MSH5_uc003nww.1_Silent_p.L346L|MSH5_uc003nwx.1_Silent_p.L363L|MSH5_uc011dof.1_Silent_p.L45L|MSH5_uc003nwy.1_Silent_p.L20L|MSH5_uc003nwz.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 346 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CCCTGGGCCTGAGGGATGCCT 0.567 Direct_reversal_of_damage|MMR 8 66 --- --- --- --- PASS C2 717 broad.mit.edu 37 6 31868898 31868898 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:31868898A>G uc011dop.1 + 1 123 c.55A>G c.(55-57)AAC>GAC p.N19D C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.F62S NM_001145903 NP_001139375 P06681 CO2_HUMAN complement component 2 isoform 2 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GTTCAGCAGGAACTGGTCCCG 0.622 29 143 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33626839 33626839 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:33626839C>A uc011drk.1 + 6 789 c.570C>A c.(568-570)GCC>GCA p.A190A NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 190 Cytoplasmic (Potential).|MIR 2. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CTGTCAATGCCGGGCAGCCTC 0.637 35 255 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33626840 33626840 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:33626840G>T uc011drk.1 + 6 790 c.571G>T c.(571-573)GGG>TGG p.G191W NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 191 Cytoplasmic (Potential).|MIR 2. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TGTCAATGCCGGGCAGCCTCT 0.632 31 257 --- --- --- --- PASS KCTD20 222658 broad.mit.edu 37 6 36447401 36447401 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:36447401G>C uc003ome.2 + 5 962 c.571G>C c.(571-573)GAT>CAT p.D191H KCTD20_uc011dtm.1_Missense_Mutation_p.D46H|KCTD20_uc011dtn.1_Intron|KCTD20_uc010jwk.2_Intron|KCTD20_uc011dto.1_Intron NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerisation domain 191 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 CAATTGTCCTGATGGCATCTC 0.358 4 163 --- --- --- --- PASS TSPO2 222642 broad.mit.edu 37 6 41010728 41010728 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:41010728C>T uc003opj.2 + 2 305 c.4C>T c.(4-6)CGG>TGG p.R2W UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.C11C|TSPO2_uc011dub.1_Missense_Mutation_p.R2W NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 2 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 AAGGTGAATGCGGCTTCAAGG 0.582 4 115 --- --- --- --- PASS UBR2 23304 broad.mit.edu 37 6 42631065 42631065 + Silent SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:42631065T>C uc011dur.1 + 32 3606 c.3606T>C c.(3604-3606)GAT>GAC p.D1202D UBR2_uc011dus.1_Silent_p.D847D|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1202 RING-type; atypical. cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CGAGCTATGATGTAGAAAACG 0.368 30 112 --- --- --- --- PASS PTCRA 171558 broad.mit.edu 37 6 42883813 42883813 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:42883813C>T uc003osx.2 + 1 87 c.6C>T c.(4-6)GCC>GCT p.A2A PTCRA_uc011duz.1_5'UTR|PTCRA_uc010jxx.1_Silent_p.A2A|PTCRA_uc010jxy.2_Silent_p.A2A|PTCRA_uc010jxz.2_Silent_p.A2A NM_138296 NP_612153 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha precursor 2 integral to membrane receptor activity ovary(2) 2 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GGGCCATGGCCGGTACATGGC 0.642 27 123 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46836746 46836746 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:46836746A>T uc003oyo.3 - 12 1784 c.1495T>A c.(1495-1497)TAT>AAT p.Y499N GPR116_uc011dwj.1_Missense_Mutation_p.Y54N|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.Y357N|GPR116_uc003oyq.3_Missense_Mutation_p.Y499N|GPR116_uc010jzi.1_Missense_Mutation_p.Y171N NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 499 Ig-like 3.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) ACCTCATCATAGTTACTCACA 0.373 18 94 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47681722 47681722 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:47681722C>G uc003oza.1 + 6 999 c.741C>G c.(739-741)ATC>ATG p.I247M GPR115_uc003oyz.1_Missense_Mutation_p.I304M|GPR115_uc003ozb.1_Missense_Mutation_p.I245M NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 247 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GGTTTCACATCAACCATAATA 0.393 16 106 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682288 47682288 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:47682288C>A uc003oza.1 + 6 1565 c.1307C>A c.(1306-1308)TCA>TAA p.S436* GPR115_uc003oyz.1_Nonsense_Mutation_p.S493*|GPR115_uc003ozb.1_Nonsense_Mutation_p.S434* NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 436 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 ACGGAGATATCATACATGCGT 0.488 57 277 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682589 47682589 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:47682589C>A uc003oza.1 + 6 1866 c.1608C>A c.(1606-1608)ATC>ATA p.I536I GPR115_uc003oyz.1_Silent_p.I593I|GPR115_uc003ozb.1_Silent_p.I534I NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 536 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I536M(1) ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CAGTTGCTATCACAGAGCCAG 0.488 52 207 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682682 47682682 + Silent SNP C T T rs115968193 byFrequency TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:47682682C>T uc003oza.1 + 6 1959 c.1701C>T c.(1699-1701)TTC>TTT p.F567F GPR115_uc003oyz.1_Silent_p.F624F|GPR115_uc003ozb.1_Silent_p.F565F NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 567 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 TCCCGGCGTTCGTCATTGTGG 0.473 34 146 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682734 47682734 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:47682734C>G uc003oza.1 + 6 2011 c.1753C>G c.(1753-1755)CAG>GAG p.Q585E GPR115_uc003oyz.1_Missense_Mutation_p.Q642E|GPR115_uc003ozb.1_Missense_Mutation_p.Q583E NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 585 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 TGTCAACACTCAGAGGCCCTC 0.473 27 159 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49814356 49814356 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:49814356A>T uc003ozw.2 - 5 391 c.312T>A c.(310-312)CAT>CAA p.H104Q CRISP1_uc003ozx.2_Missense_Mutation_p.H104Q NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 104 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) AAGATGTCATATGCATATTTT 0.383 27 109 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50682828 50682828 + Splice_Site SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:50682828G>C uc003paf.2 + 2 552 c.40_splice c.e2-1 p.I14_splice TFAP2D_uc011dwt.1_Splice_Site NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CTTCCTTCCAGATACGTCACG 0.522 29 143 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52993008 52993008 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:52993008C>T uc003pbp.2 - 6 1516 c.1307G>A c.(1306-1308)AGA>AAA p.R436K NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 436 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TTTGGGTCATCTCAAAGGACA 0.413 57 287 --- --- --- --- PASS GCM1 8521 broad.mit.edu 37 6 52998945 52998945 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:52998945C>A uc003pbp.2 - 3 462 c.253G>T c.(253-255)GAC>TAC p.D85Y GCM1_uc010jzr.2_Missense_Mutation_p.D85Y NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 85 GCM. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) GCGAGACAGTCGCGGCCGCAC 0.622 29 118 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66204664 66204664 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:66204664G>C uc011dxu.1 - 4 1178 c.640C>G c.(640-642)CTT>GTT p.L214V EYS_uc003peq.2_Missense_Mutation_p.L214V|EYS_uc003per.1_Missense_Mutation_p.L214V|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 214 EGF-like 2. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CATGCATCAAGTTCCTGGCAG 0.393 16 37 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75852968 75852968 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:75852968C>G uc003phs.2 - 26 4993 c.4827G>C c.(4825-4827)GAG>GAC p.E1609D COL12A1_uc003pht.2_Missense_Mutation_p.E445D NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1609 Fibronectin type-III 11. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TTCAACCTACCTCTTTGACAT 0.338 4 134 --- --- --- --- PASS MICAL1 64780 broad.mit.edu 37 6 109767339 109767339 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:109767339C>A uc003ptj.2 - 18 2835 c.2581G>T c.(2581-2583)GCT>TCT p.A861S MICAL1_uc003ptk.2_Missense_Mutation_p.A861S|MICAL1_uc010kdr.2_Missense_Mutation_p.A775S|MICAL1_uc011eaq.1_Missense_Mutation_p.A880S NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 861 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GATGGGTTACCTTGAGGGCTC 0.647 3 50 --- --- --- --- PASS PLN 5350 broad.mit.edu 37 6 118880183 118880183 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:118880183C>G uc003pye.2 + 2 310 c.99C>G c.(97-99)ATC>ATG p.I33M C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron NM_002667 NP_002658 P26678 PPLA_HUMAN phospholamban 33 Helical; (Potential). blood circulation|regulation of calcium ion transport integral to membrane|mitochondrial membrane|sarcoplasmic reticulum calcium channel regulator activity|protein binding 0 all_cancers(87;0.0916)|all_epithelial(87;0.131) GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176) ATCTATTTATCAATTTCTGTC 0.413 32 191 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128151032 128151032 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:128151032C>G uc003qbi.2 - 4 617 c.298G>C c.(298-300)GAA>CAA p.E100Q THEMIS_uc010kfa.2_Missense_Mutation_p.E3Q|THEMIS_uc011ebt.1_Missense_Mutation_p.E100Q|THEMIS_uc010kfb.2_Missense_Mutation_p.E65Q NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 100 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CTTGTGATTTCTTCCATAGTA 0.363 33 123 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152129166 152129166 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:152129166G>T uc003qom.3 + 3 489 c.119G>T c.(118-120)GGC>GTC p.G40V ESR1_uc010kin.2_Missense_Mutation_p.G40V|ESR1_uc010kio.2_Missense_Mutation_p.G40V|ESR1_uc010kip.2_Missense_Mutation_p.G40V|ESR1_uc003qon.3_Missense_Mutation_p.G40V|ESR1_uc003qoo.3_Missense_Mutation_p.G40V|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.G40V NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 40 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CGGCCCCTGGGCGAGGTGTAC 0.662 18 70 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166576077 166576077 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:166576077C>G uc003quu.1 - 7 1255 c.762G>C c.(760-762)CTG>CTC p.L254L T_uc003qut.1_Silent_p.L255L|T_uc003quv.1_Intron NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 254 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CAGGTGGACACAGGGTGCTGG 0.587 Chordoma_Familial_Clustering_of 61 52 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169641872 169641872 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr6:169641872C>T uc003qwt.2 - 6 1124 c.876G>A c.(874-876)GAG>GAA p.E292E NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 292 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TCTTGAGGTTCTCGCTGAGCT 0.647 58 335 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4169653 4169653 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:4169653C>G uc003smx.2 + 27 4192 c.4053C>G c.(4051-4053)CTC>CTG p.L1351L SDK1_uc010kso.2_Silent_p.L627L|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1351 Fibronectin type-III 7. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCTACGAGCTCCAGGTGCTGG 0.662 26 169 --- --- --- --- PASS SLC29A4 222962 broad.mit.edu 37 7 5338675 5338675 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:5338675C>T uc003sod.2 + 8 1100 c.939C>T c.(937-939)CAC>CAT p.H313H SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.H313H|SLC29A4_uc003soe.2_Silent_p.H299H|SLC29A4_uc010ksw.2_RNA NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 313 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GCCCAGCCCACGAGGTGACCG 0.692 5 120 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5353171 5353171 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:5353171G>T uc003soi.3 - 27 7700 c.7351C>A c.(7351-7353)CCT>ACT p.P2451T NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2451 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCCTCCGAGGGCCCTTGGCA 0.672 8 29 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7635937 7635937 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:7635937C>T uc003srf.2 + 11 2554 c.2246C>T c.(2245-2247)TCA>TTA p.S749L MIOS_uc003srg.2_Missense_Mutation_p.S284L|MIOS_uc010ktq.2_Missense_Mutation_p.S144L NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 749 0 TACAGCTGTTCAGCTGTGCCT 0.403 14 271 --- --- --- --- PASS SNX13 23161 broad.mit.edu 37 7 17890515 17890515 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:17890515C>G uc003stw.1 - 10 1123 c.910G>C c.(910-912)GAA>CAA p.E304Q SNX13_uc003stv.2_Missense_Mutation_p.E304Q|SNX13_uc010kuc.2_Missense_Mutation_p.E101Q Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 304 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CTGACTGCTTCTAGCTCTCCA 0.328 9 35 --- --- --- --- PASS NT5C3 51251 broad.mit.edu 37 7 33057128 33057128 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:33057128C>G uc003tdk.2 - 7 708 c.631G>C c.(631-633)GAG>CAG p.E211Q AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E172Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E172Q NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 211 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) ATAACTTCCTCTAGTACATCG 0.378 28 146 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40037170 40037170 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:40037170C>T uc003thh.3 + 3 2231 c.1949C>T c.(1948-1950)CCG>CTG p.P650L CDK13_uc003thi.3_Missense_Mutation_p.P650L|CDK13_uc011kbf.1_Missense_Mutation_p.P36L NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 650 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 GCTGATTTACCGCTGCCCCCT 0.403 39 265 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42065846 42065846 + Silent SNP C A A rs148822237 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:42065846C>A uc011kbh.1 - 8 1285 c.1194G>T c.(1192-1194)ACG>ACT p.T398T GLI3_uc011kbg.1_Silent_p.T339T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 398 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGTTCAGAACCGTAGGGATCC 0.617 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 7 57 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50566927 50566927 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:50566927G>A uc003tpf.3 - 8 881 c.795C>T c.(793-795)GAC>GAT p.D265D DDC_uc010kza.2_Silent_p.D180D|DDC_uc003tpg.3_Silent_p.D265D NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 265 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GCAGCCATATGTCTTCCTTGT 0.562 18 44 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188631 57188631 + Missense_Mutation SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:57188631T>A uc010kzo.2 - 5 762 c.491A>T c.(490-492)AAA>ATA p.K164I NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ACCAAAGACTTTGACATATTT 0.308 9 56 --- --- --- --- PASS PMS2L3 5387 broad.mit.edu 37 7 75145477 75145477 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:75145477C>A uc003udp.2 - 3 629 c.85G>T c.(85-87)GAG>TAG p.E29* PMS2L3_uc003udn.2_RNA|PMS2L3_uc003udq.2_Nonsense_Mutation_p.E29*|PMS2L3_uc003udr.1_RNA NM_005395 NP_005386 SubName: Full=Postmeiotic segregation increased 2-like 3; SubName: Full=Postmeiotic segregation increased 2-like 3, isoform CRA_b; 0 GCTATCTTCTCATCAGGGTCC 0.493 Direct_reversal_of_damage|MMR 40 110 --- --- --- --- PASS SRCRB4D 136853 broad.mit.edu 37 7 76022746 76022746 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:76022746C>T uc003ufb.2 - 9 1657 c.1309G>A c.(1309-1311)GAG>AAG p.E437K SRCRB4D_uc003ufa.2_5'UTR NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 437 SRCR 3. extracellular region|membrane scavenger receptor activity pancreas(1) 1 CCCGCGTCCTCGTGGTGGCCG 0.751 6 29 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87183183 87183183 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:87183183G>C uc003uiz.1 - 10 1311 c.893C>G c.(892-894)TCT>TGT p.S298C ABCB1_uc011khc.1_Missense_Mutation_p.S234C NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 298 Helical; (Potential).|ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGCACCTATAGAAATATTGGC 0.373 30 253 --- --- --- --- PASS SLC25A40 55972 broad.mit.edu 37 7 87483531 87483531 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:87483531G>A uc003uje.2 - 5 603 c.252C>T c.(250-252)TTC>TTT p.F84F NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 84 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) ATGTTCCCTGGAAATTTCCTG 0.323 8 227 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91715626 91715626 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:91715626G>C uc003ulg.2 + 37 9334 c.9109G>C c.(9109-9111)GAG>CAG p.E3037Q AKAP9_uc003ulf.2_Missense_Mutation_p.E3029Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2660Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E807Q|AKAP9_uc003ulk.2_Missense_Mutation_p.E312Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3041 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTCTTAGAAGAGCGTAGTGT 0.418 T BRAF papillary thyroid 64 527 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 91936822 91936822 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:91936822G>C uc003ulw.2 + 3 714 c.338G>C c.(337-339)AGA>ACA p.R113T NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 113 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GATTTCAGAAGAGCAGATTGT 0.413 4 232 --- --- --- --- PASS MIR489 574442 broad.mit.edu 37 7 93113265 93113265 + RNA SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:93113265G>T hsa-mir-489|MI0003124 - c.67G>T CALCR_uc003ums.1_Intron|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umv.1_Intron|CALCR_uc003umw.2_Intron|MIR653_hsa-mir-653|MI0003674_5'Flank 0 TTTAGCTGCCGTATATGTGAT 0.403 20 72 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94045750 94045750 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:94045750G>T uc003ung.1 + 31 2269 c.1798G>T c.(1798-1800)GCC>TCC p.A600S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 600 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GAGTGGTGCTGCCGGTCCTAC 0.478 HNSCC(75;0.22) 6 16 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677363 100677363 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:100677363C>T uc003uxp.1 + 3 2719 c.2666C>T c.(2665-2667)CCT>CTT p.P889L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 889 Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACAACTCCTGTTGACACC 0.498 80 818 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678116 100678116 + Nonsense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:100678116C>G uc003uxp.1 + 3 3472 c.3419C>G c.(3418-3420)TCA>TGA p.S1140* MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1140 Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCAGTTCATCTCCTACA 0.547 18 854 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678753 100678753 + Silent SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:100678753T>C uc003uxp.1 + 3 4109 c.4056T>C c.(4054-4056)TCT>TCC p.S1352S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1352 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGGCCAGTTCTGCAATCAGCA 0.468 267 478 --- --- --- --- PASS PNPLA8 50640 broad.mit.edu 37 7 108155098 108155098 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:108155098G>C uc003vff.1 - 4 1245 c.838C>G c.(838-840)CAA>GAA p.Q280E PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.Q280E|PNPLA8_uc003vfi.1_Missense_Mutation_p.Q180E|PNPLA8_uc003vfj.1_Missense_Mutation_p.Q280E|PNPLA8_uc003vfk.1_Missense_Mutation_p.Q180E NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 280 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 GTTGAAACTTGAAGAACATCA 0.438 20 231 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119914784 119914784 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:119914784A>G uc003vjj.1 + 1 1063 c.98A>G c.(97-99)CAG>CGG p.Q33R NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 33 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CCCCCGAGGCAGGAGAGGAAA 0.627 261 398 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140534436 140534436 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:140534436G>C uc003vwc.3 - 3 538 c.477C>G c.(475-477)GTC>GTG p.V159V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 159 RBD. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TGGGCAGGAAGACTCTAACGA 0.403 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 58 172 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140534629 140534629 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:140534629C>G uc003vwc.3 - 3 345 c.284G>C c.(283-285)AGA>ACA p.R95T NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 95 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) CTGTTGTTCTCTTTGTTGGAG 0.393 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 33 180 --- --- --- --- PASS PRSS1 5644 broad.mit.edu 37 7 142459677 142459677 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:142459677G>C uc003wak.2 + 3 270 c.253G>C c.(253-255)GAG>CAG p.E85Q uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25Q NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 85 Peptidase S1. Calcium. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGAGGGGAATGAGCAGTTCAT 0.547 Hereditary_Pancreatitis 31 313 --- --- --- --- PASS TRPV6 55503 broad.mit.edu 37 7 142583234 142583234 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:142583234C>T uc003wbx.1 - 1 244 c.28G>A c.(28-30)GGG>AGG p.G10R NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 10 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) AGAATTAGCCCTTTCTCCTTG 0.612 100 169 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 148080915 148080915 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:148080915C>T uc003weu.1 + 22 4166 c.3650C>T c.(3649-3651)TCG>TTG p.S1217L CNTNAP2_uc003wev.1_5'UTR NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1217 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGCGGGGCCTCGCCGCTGACC 0.562 HNSCC(39;0.1) 27 74 --- --- --- --- PASS ZNF862 643641 broad.mit.edu 37 7 149545106 149545106 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:149545106C>T uc010lpn.2 + 4 716 c.524C>T c.(523-525)TCA>TTA p.S175L ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 175 TTF-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GACAAACGGTCAAGACTAATA 0.512 12 30 --- --- --- --- PASS WDR86 349136 broad.mit.edu 37 7 151093180 151093180 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:151093180G>T uc003wkb.2 - 3 857 c.408C>A c.(406-408)CAC>CAA p.H136Q WDR86_uc003wka.2_Missense_Mutation_p.H94Q|WDR86_uc011kvk.1_Missense_Mutation_p.H136Q|WDR86_uc003wkc.2_Missense_Mutation_p.H8Q NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 136 WD 4. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCAGTTGCGGTGGCCCCGGA 0.677 51 44 --- --- --- --- PASS HTR5A 3361 broad.mit.edu 37 7 154862691 154862691 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:154862691G>C uc003wlu.1 + 1 146 c.82G>C c.(82-84)GAC>CAC p.D28H uc011kvt.1_Intron|uc003wlt.2_Intron NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 28 Extracellular (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGGCAAAGACGACCTGCGCCC 0.607 113 132 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3165999 3165999 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:3165999G>A uc011kwk.1 - 24 4051 c.3661C>T c.(3661-3663)CCG>TCG p.P1221S CSMD1_uc011kwj.1_Missense_Mutation_p.P613S|CSMD1_uc003wqe.2_Missense_Mutation_p.P377S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1221 Extracellular (Potential).|Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGATGCCCGGATCCTCACAT 0.483 10 25 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43171102 43171102 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:43171102G>A uc003xpz.1 + 7 1016 c.973G>A c.(973-975)GAG>AAG p.E325K POTEA_uc003xqa.1_Missense_Mutation_p.E279K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 325 ovary(1) 1 TAGTCAGCATGAGGCATGtaa 0.318 4 28 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61754598 61754598 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:61754598C>T uc003xue.2 + 21 5314 c.4837C>T c.(4837-4839)CTG>TTG p.L1613L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1613 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAGAAGAATCTGCTTGTCTA 0.418 4 27 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67578320 67578320 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:67578320T>C uc003xwn.2 - 1 1133 c.874A>G c.(874-876)ATA>GTA p.I292V SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 292 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AGACCAAATATGTGGATATTC 0.468 38 208 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69069666 69069666 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:69069666G>T uc003xxv.1 + 35 4368 c.4341G>T c.(4339-4341)AAG>AAT p.K1447N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1447 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACAACCAGAAGCTCAGGTATG 0.323 15 62 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775917 77775917 + Nonsense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:77775917C>T uc003yav.2 + 11 10219 c.9832C>T c.(9832-9834)CAG>TAG p.Q3278* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3274 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ccaacagtatcagcagaacct 0.313 HNSCC(33;0.089) 3 18 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120594757 120594757 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:120594757G>A uc003yot.1 - 18 1715 c.1629C>T c.(1627-1629)ACC>ACT p.T543T ENPP2_uc011lic.1_Silent_p.T60T|ENPP2_uc003yor.1_Silent_p.T182T|ENPP2_uc003yos.1_Silent_p.T595T|ENPP2_uc010mdd.1_Silent_p.T543T NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 543 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCTCTGGCATGGTTGGCCTGA 0.453 76 377 --- --- --- --- PASS FBXO32 114907 broad.mit.edu 37 8 124553156 124553156 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:124553156G>A uc003yqr.2 - 1 291 c.99C>T c.(97-99)TTC>TTT p.F33F FBXO32_uc010mdk.2_Silent_p.F33F NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 33 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGTCGCTCACGAAACTGCCGC 0.677 14 116 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131146584 131146584 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:131146584C>G uc003yta.1 - 14 1203 c.1175G>C c.(1174-1176)AGA>ACA p.R392T ASAP1_uc003ysz.1_Missense_Mutation_p.R203T|ASAP1_uc011liw.1_Missense_Mutation_p.R385T NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 392 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GTGATATGTTCTATTATCTAA 0.348 14 71 --- --- --- --- PASS EFR3A 23167 broad.mit.edu 37 8 133014041 133014041 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:133014041G>A uc003yte.2 + 20 2394 c.2193G>A c.(2191-2193)TTG>TTA p.L731L NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 731 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTGAAGCATTGAAGAAAGCAA 0.328 11 85 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145006373 145006373 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:145006373C>T uc003zaf.1 - 17 2588 c.2418G>A c.(2416-2418)GAG>GAA p.E806E PLEC_uc003zab.1_Silent_p.E669E|PLEC_uc003zac.1_Silent_p.E673E|PLEC_uc003zad.2_Silent_p.E669E|PLEC_uc003zae.1_Silent_p.E637E|PLEC_uc003zag.1_Silent_p.E647E|PLEC_uc003zah.2_Silent_p.E655E|PLEC_uc003zaj.2_Silent_p.E696E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 806 Spectrin 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGATCTTCTTCTCCTTCAGCT 0.647 5 89 --- --- --- --- PASS BOP1 23246 broad.mit.edu 37 8 145512892 145512892 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:145512892C>A uc003zbr.1 - 2 261 c.193G>T c.(193-195)GAT>TAT p.D65Y HSF1_uc003zbt.3_5'Flank|HSF1_uc003zbu.3_5'Flank NM_015201 NP_056016 Q14137 BOP1_HUMAN block of proliferation 1 65 cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle nucleoplasm|PeBoW complex protein binding 0 all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087) CTGCCGGAATCTTCCAGGCCT 0.607 35 198 --- --- --- --- PASS CPSF1 29894 broad.mit.edu 37 8 145623969 145623969 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr8:145623969G>A uc003zcj.2 - 18 1773 c.1698C>T c.(1696-1698)GAC>GAT p.D566D NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 566 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGCCGTCGTCGTCTGCTTCAG 0.662 42 442 --- --- --- --- PASS IFNA7 3444 broad.mit.edu 37 9 21201638 21201638 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:21201638G>C uc003zop.1 - 1 567 c.527C>G c.(526-528)TCT>TGT p.S176C IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 176 blood coagulation|cell-cell signaling|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 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TGTTGAAAAAGAGAAGGATCT 0.378 70 367 --- --- --- --- PASS PTPDC1 138639 broad.mit.edu 37 9 96866628 96866628 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:96866628G>T uc004auf.1 + 9 2449 c.2109G>T c.(2107-2109)GAG>GAT p.E703D PTPDC1_uc004aug.1_Missense_Mutation_p.E698D|PTPDC1_uc004auh.1_Missense_Mutation_p.E755D|PTPDC1_uc010mrj.1_Missense_Mutation_p.E757D NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 703 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 TGGATGTGGAGGAAGCTTTCC 0.438 17 37 --- --- --- --- PASS PTPDC1 138639 broad.mit.edu 37 9 96866629 96866629 + Nonsense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:96866629G>T uc004auf.1 + 9 2450 c.2110G>T c.(2110-2112)GAA>TAA p.E704* PTPDC1_uc004aug.1_Nonsense_Mutation_p.E699*|PTPDC1_uc004auh.1_Nonsense_Mutation_p.E756*|PTPDC1_uc010mrj.1_Nonsense_Mutation_p.E758* NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 704 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 GGATGTGGAGGAAGCTTTCCT 0.443 17 37 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104433333 104433333 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:104433333G>C uc004bbp.1 - 3 1962 c.1361C>G c.(1360-1362)TCC>TGC p.S454C GRIN3A_uc004bbq.1_Missense_Mutation_p.S454C NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 454 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GACGATGGTGGAACCTTTTAC 0.493 84 214 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 117031543 117031543 + Missense_Mutation SNP C G G rs139237104 byFrequency TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:117031543C>G uc011lxl.1 + 35 3524 c.3524C>G c.(3523-3525)ACT>AGT p.T1175S COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1175 Pro-rich.|Collagen-like 9.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCCCTGGGCACTCCTGGGGAG 0.607 13 40 --- --- --- --- PASS CEP110 11064 broad.mit.edu 37 9 123922541 123922541 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:123922541C>A uc004bkx.1 + 30 5081 c.5050C>A c.(5050-5052)CTT>ATT p.L1684I CEP110_uc010mvo.1_Missense_Mutation_p.L353I|CEP110_uc004blb.1_Missense_Mutation_p.L353I|CEP110_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1684 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GGAAGAAAATCTTCAGGTTGT 0.303 56 88 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125486937 125486937 + Silent SNP C A A rs140014211 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:125486937C>A uc004bmu.1 + 1 669 c.669C>A c.(667-669)ATC>ATA p.I223I NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAAATCATCGTCACTGTGC 0.542 107 535 --- --- --- --- PASS SH2D3C 10044 broad.mit.edu 37 9 130504196 130504196 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:130504196G>T uc004bsc.2 - 9 2101 c.1959C>A c.(1957-1959)GGC>GGA p.G653G SH2D3C_uc010mxo.2_Silent_p.G493G|SH2D3C_uc004bry.2_Silent_p.G495G|SH2D3C_uc004brz.3_Silent_p.G299G|SH2D3C_uc011mak.1_Silent_p.G299G|SH2D3C_uc004bsa.2_Silent_p.G496G|SH2D3C_uc004bsb.2_Silent_p.G585G NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 653 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 AGCCGGTGCAGCCCAGGATGT 0.687 6 55 --- --- --- --- PASS FPGS 2356 broad.mit.edu 37 9 130569530 130569530 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:130569530A>G uc004bsg.1 + 6 594 c.544A>G c.(544-546)ACA>GCA p.T182A FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Intron|FPGS_uc004bsi.1_Missense_Mutation_p.T132A NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 182 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) CCGCTTCCTGACACTCATGGC 0.612 119 197 --- --- --- --- PASS URM1 81605 broad.mit.edu 37 9 131151543 131151543 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:131151543G>A uc004buv.2 + 4 254 c.192G>A c.(190-192)CGG>CGA p.R64R URM1_uc011may.1_Silent_p.R64R|URM1_uc004buw.2_RNA NM_030914 NP_112176 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 homolog isoform a 64 tRNA thio-modification|tRNA wobble uridine modification protein binding 0 CCCACAGGCGGCCAGGAATTC 0.592 72 148 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136662864 136662864 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:136662864C>T uc004ces.2 - 10 950 c.904G>A c.(904-906)GCC>ACC p.A302T VAV2_uc004cer.2_Missense_Mutation_p.A297T NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 302 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TCCCGGCTGGCCAGGAGCTGG 0.617 23 46 --- --- --- --- PASS SSNA1 8636 broad.mit.edu 37 9 140083606 140083606 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr9:140083606G>A uc004cls.2 + 2 266 c.141G>A c.(139-141)GTG>GTA p.V47V ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank NM_003731 NP_003722 O43805 SSNA1_HUMAN nuclear autoantigen of 14 kDa 47 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGAATGAGGTGAGGCAGCTGA 0.652 14 31 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5803348 5803348 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:5803348G>A uc001iij.2 + 19 7713 c.7088G>A c.(7087-7089)CGA>CAA p.R2363Q C10orf18_uc001iik.2_Missense_Mutation_p.R1207Q NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2363 ovary(1)|central_nervous_system(1) 2 TGTGACTCTCGATCATCAACA 0.388 33 163 --- --- --- --- PASS FAM171A1 221061 broad.mit.edu 37 10 15325930 15325930 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:15325930G>C uc001iob.2 - 2 279 c.272C>G c.(271-273)TCG>TGG p.S91W NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 91 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GGCATGCTTCGAGGCGGTGAC 0.532 16 106 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15726081 15726081 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:15726081C>T uc001ioc.1 - 4 490 c.490G>A c.(490-492)GAA>AAA p.E164K ITGA8_uc010qcb.1_Missense_Mutation_p.E164K NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 164 Extracellular (Potential).|FG-GAP 2. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GGGTCCTTTTCTGGTGTCGGT 0.423 19 87 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16873253 16873253 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:16873253G>C uc001ioo.2 - 65 10578 c.10526C>G c.(10525-10527)TCT>TGT p.S3509C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3509 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTCTTACCAGAGGGTGATGA 0.363 22 109 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17275778 17275778 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:17275778G>A uc001iou.2 + 5 1143 c.730G>A c.(730-732)GAG>AAG p.E244K VIM_uc001iov.1_Missense_Mutation_p.E244K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E244K|VIM_uc001ioy.1_Missense_Mutation_p.E244K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E244K|VIM_uc001ipc.1_Missense_Mutation_p.E244K NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 244 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GGAAATCCAGGAGCTGCAGGC 0.532 19 89 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32306105 32306105 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:32306105C>T uc001iwe.3 - 24 3197 c.2727G>A c.(2725-2727)AAG>AAA p.K909K NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 909 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TGGCCATATTCTTTGACCTGA 0.398 98 428 --- --- --- --- PASS CXCL12 6387 broad.mit.edu 37 10 44880406 44880406 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:44880406G>C uc001jbf.2 - 1 137 c.48C>G c.(46-48)CTC>CTG p.L16L CXCL12_uc001jbh.2_Silent_p.L16L|CXCL12_uc001jbi.2_Silent_p.L16L NM_000609 NP_000600 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 (stromal 16 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity 0 Dexamethasone(DB01234) CGCTGAGGCAGAGCGCGGTCA 0.637 3 20 --- --- --- --- PASS ASAH2B 653308 broad.mit.edu 37 10 52502713 52502713 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:52502713G>A uc001jjg.2 + 2 94 c.29G>A c.(28-30)CGC>CAC p.R10H ASAH2B_uc010qhm.1_5'UTR NM_001079516 NP_001072984 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal Error:Variant_position_missing_in_Q9NR71_after_alignment apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 TTTATGGACCGCACGCATTAT 0.363 40 207 --- --- --- --- PASS TSPAN15 23555 broad.mit.edu 37 10 71243548 71243548 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:71243548C>T uc001jpo.1 + 2 323 c.198C>T c.(196-198)CTC>CTT p.L66L NM_012339 NP_036471 O95858 TSN15_HUMAN transmembrane 4 superfamily member 15 66 Helical; (Potential). integral to plasma membrane|membrane fraction 0 CCATCATCCTCATCCTCCTGG 0.552 25 122 --- --- --- --- PASS PLAU 5328 broad.mit.edu 37 10 75676259 75676259 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:75676259G>C uc001jwa.2 + 11 1378 c.1232G>C c.(1231-1233)AGA>ACA p.R411T C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.R394T|PLAU_uc010qkx.1_Missense_Mutation_p.R325T|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.R411T|PLAU_uc009xrq.1_Missense_Mutation_p.R375T NM_002658 NP_002649 P00749 UROK_HUMAN plasminogen activator, urokinase isoform 1 411 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity ovary(2)|kidney(1) 3 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCTACACGAGAGTCTCACAC 0.602 6 41 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84745006 84745006 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:84745006C>T uc001kco.2 + 9 1763 c.1736C>T c.(1735-1737)TCA>TTA p.S579L NRG3_uc010qlz.1_Missense_Mutation_p.S578L|NRG3_uc001kcp.2_Missense_Mutation_p.S382L|NRG3_uc001kcq.2_Missense_Mutation_p.S229L|NRG3_uc001kcr.2_Missense_Mutation_p.S253L NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 603 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ATCATCCCTTCAGTGGGTTTA 0.468 60 272 --- --- --- --- PASS GLUD1 2746 broad.mit.edu 37 10 88854340 88854340 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:88854340C>T uc001keh.2 - 1 284 c.187G>A c.(187-189)GAC>AAC p.D63N FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 63 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) AAGTTGGGGTCGTCCTCGCGG 0.721 18 285 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101715112 101715112 + Missense_Mutation SNP T G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:101715112T>G uc001kqj.2 - 4 2211 c.2119A>C c.(2119-2121)ATG>CTG p.M707L NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 707 Potential. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTACTGTACATATCCAAGTCC 0.512 4 121 --- --- --- --- PASS CYP17A1 1586 broad.mit.edu 37 10 104594716 104594716 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:104594716G>A uc001kwg.2 - 3 664 c.492C>T c.(490-492)TCC>TCT p.S164S NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 164 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) AGATGTCTATGGACTGTCCGT 0.493 OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 153 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106960951 106960951 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:106960951G>A uc001kyi.1 + 16 2428 c.2201G>A c.(2200-2202)CGA>CAA p.R734Q SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 734 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCCCTGGGCCGAGACCACTCA 0.488 22 99 --- --- --- --- PASS GPAM 57678 broad.mit.edu 37 10 113924352 113924352 + Missense_Mutation SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:113924352T>A uc009xxy.1 - 13 1436 c.1238A>T c.(1237-1239)CAA>CTA p.Q413L GPAM_uc001kzp.2_Missense_Mutation_p.Q413L|GPAM_uc001kzq.1_Missense_Mutation_p.Q413L NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 413 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) TTTCTGACTTTGGCTTTCTAA 0.358 16 46 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118451946 118451946 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:118451946C>T uc001lct.2 - 6 684 c.579G>A c.(577-579)GAG>GAA p.E193E HSPA12A_uc001lcu.2_Silent_p.E110E NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 193 ATP binding ovary(1) 1 all cancers(201;0.0158) CATCAGAGTTCTCGAACTCCG 0.572 58 339 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121677437 121677437 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:121677437C>T uc001leu.1 + 9 1706 c.1634C>T c.(1633-1635)CCC>CTC p.P545L SEC23IP_uc010qtc.1_Missense_Mutation_p.P334L|SEC23IP_uc009xzk.1_5'Flank NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 545 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TATAACAGCCCCACCTACTGT 0.368 20 124 --- --- --- --- PASS INPP5A 3632 broad.mit.edu 37 10 134579283 134579283 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr10:134579283G>C uc001llp.2 + 12 1158 c.910G>C c.(910-912)GAG>CAG p.E304Q INPP5A_uc001llo.1_Missense_Mutation_p.E304Q|INPP5A_uc001llq.2_Missense_Mutation_p.E199Q NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 304 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TTAGCTCTTGGAGTTTGACAA 0.488 20 146 --- --- --- --- PASS RBMXL2 27288 broad.mit.edu 37 11 7110612 7110612 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:7110612G>C uc001mfc.2 + 1 448 c.261G>C c.(259-261)CCG>CCC p.P87P NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 87 nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCACCAAACCGGCGTTCGAGA 0.592 4 16 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8948644 8948644 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:8948644C>G uc001mhb.3 - 4 526 c.402G>C c.(400-402)CAG>CAC p.Q134H C11orf16_uc001mhc.3_Missense_Mutation_p.Q134H NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 134 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGACCACTCTCTGCTGCTGGG 0.557 13 44 --- --- --- --- PASS MICAL2 9645 broad.mit.edu 37 11 12225953 12225953 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:12225953G>A uc001mjz.2 + 4 709 c.421G>A c.(421-423)GGA>AGA p.G141R MICAL2_uc010rch.1_Missense_Mutation_p.G141R|MICAL2_uc001mjy.2_Missense_Mutation_p.G141R|MICAL2_uc001mka.2_Missense_Mutation_p.G141R|MICAL2_uc010rci.1_Missense_Mutation_p.G141R|MICAL2_uc001mkb.2_Missense_Mutation_p.G141R|MICAL2_uc001mkc.2_Missense_Mutation_p.G141R NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 141 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TCGTGGCCTGGGAGCCAAGAA 0.557 33 125 --- --- --- --- PASS RASSF10 644943 broad.mit.edu 37 11 13031130 13031130 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:13031130C>T uc001mkn.1 + 2 331 c.331C>T c.(331-333)CCT>TCT p.P111S NM_001080521 NP_001073990 A6NK89 RASFA_HUMAN Ras association (RalGDS/AF-6) domain family 3 signal transduction 0 Epithelial(150;0.00399) CGCCATGGATCCTTCGGAAAA 0.637 12 41 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17552952 17552952 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:17552952C>A uc001mnf.2 - 3 351 c.242G>T c.(241-243)CGC>CTC p.R81L USH1C_uc001mne.2_Missense_Mutation_p.R81L|USH1C_uc009yhb.2_Missense_Mutation_p.R81L|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R45L NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 81 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 GCACCTGGAGCGCCGGGGGGT 0.627 8 16 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20070277 20070277 + Silent SNP C T T rs140548628 byFrequency TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:20070277C>T uc010rdm.1 + 16 4336 c.3975C>T c.(3973-3975)CTC>CTT p.L1325L NAV2_uc001mpp.2_Silent_p.L1238L|NAV2_uc001mpr.3_Silent_p.L1302L|NAV2_uc001mpt.2_Silent_p.L388L|NAV2_uc009yhx.2_Silent_p.L388L|NAV2_uc009yhy.1_Silent_p.L301L|NAV2_uc009yhz.2_5'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1325 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TTCACAGACTCTTTGGTGGGA 0.512 20 48 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22399221 22399221 + Nonsense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:22399221G>T uc001mqk.2 + 12 2097 c.1684G>T c.(1684-1686)GAG>TAG p.E562* NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 562 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GGAAAAGAAAGAGGAATTTGT 0.368 15 58 --- --- --- --- PASS CKAP5 9793 broad.mit.edu 37 11 46811703 46811703 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:46811703G>A uc001ndi.1 - 15 1908 c.1798C>T c.(1798-1800)CTT>TTT p.L600F CKAP5_uc009ylg.1_Missense_Mutation_p.L486F|CKAP5_uc001ndj.1_Missense_Mutation_p.L600F NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 600 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GTAGGGGGAAGAACAGCTGAA 0.393 26 103 --- --- --- --- PASS NR1H3 10062 broad.mit.edu 37 11 47282842 47282842 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:47282842G>C uc009ylm.2 + 5 771 c.550G>C c.(550-552)GAG>CAG p.E184Q NR1H3_uc009yll.1_Missense_Mutation_p.E190Q|NR1H3_uc010rhk.1_Missense_Mutation_p.E190Q|NR1H3_uc001nek.2_Missense_Mutation_p.E139Q|NR1H3_uc001nej.2_Missense_Mutation_p.E184Q|NR1H3_uc001nel.2_Missense_Mutation_p.E139Q|NR1H3_uc001nen.3_Missense_Mutation_p.E184Q|NR1H3_uc001nem.2_Missense_Mutation_p.E184Q|NR1H3_uc001nep.2_Missense_Mutation_p.E93Q NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 184 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 GCGGCAAGAGGAGGAACAGGC 0.577 6 103 --- --- --- --- PASS PSMC3 5702 broad.mit.edu 37 11 47446672 47446672 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:47446672C>A uc001nfh.2 - 3 479 c.285G>T c.(283-285)GAG>GAT p.E95D PSMC3_uc009ylr.1_Intron NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 95 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACACACACACCTCGATGACGT 0.532 34 140 --- --- --- --- PASS CELF1 10658 broad.mit.edu 37 11 47510421 47510421 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:47510421C>G uc001nfl.2 - 1 156 c.146G>C c.(145-147)AGG>ACG p.R49T CELF1_uc001nfm.2_Missense_Mutation_p.R49T|CELF1_uc001nfn.2_Missense_Mutation_p.R49T|CELF1_uc001nfo.1_Missense_Mutation_p.R76T|CELF1_uc010rhm.1_Missense_Mutation_p.R49T|CELF1_uc001nfp.2_Missense_Mutation_p.R76T|CELF1_uc001nfq.1_Missense_Mutation_p.R49T|CELF1_uc001nfr.1_Missense_Mutation_p.R49T NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 49 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 GCTCCTATCCCTTAGGACGTT 0.483 44 294 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587932 55587932 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:55587932C>G uc010rin.1 + 1 827 c.827C>G c.(826-828)TCT>TGT p.S276C NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) AAAGTGGCCTCTGTGTTTTAC 0.493 34 111 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703748 55703748 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:55703748C>T uc010ris.1 - 1 129 c.129G>A c.(127-129)GGG>GGA p.G43G NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCCAATGTTCCCTATCAGAA 0.393 21 89 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927259 55927259 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:55927259A>T uc010rja.1 - 1 535 c.535T>A c.(535-537)TGT>AGT p.C179S NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ACATCATCACAGTAAAAATGA 0.358 21 102 --- --- --- --- PASS HRASLS5 117245 broad.mit.edu 37 11 63257743 63257743 + Silent SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:63257743A>G uc001nwy.2 - 2 415 c.241T>C c.(241-243)TTA>CTA p.L81L HRASLS5_uc001nwz.2_Silent_p.L71L|HRASLS5_uc010rmq.1_Silent_p.L81L|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 81 ovary(1) 1 CCCTGTTCTAATGTGCCCGGC 0.493 172 665 --- --- --- --- PASS MACROD1 28992 broad.mit.edu 37 11 63919774 63919774 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:63919774C>G uc001nyh.2 - 2 509 c.390G>C c.(388-390)GAG>GAC p.E130D NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 130 0 CTTTCGCCATCTCCTTCCATG 0.577 51 310 --- --- --- --- PASS SF1 7536 broad.mit.edu 37 11 64533522 64533522 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:64533522T>C uc001obb.1 - 13 2065 c.1688A>G c.(1687-1689)AAC>AGC p.N563S SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Missense_Mutation_p.N537S|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Missense_Mutation_p.N563S|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 563 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 CATAGTGGGGTTGCCTTGCAT 0.716 3 66 --- --- --- --- PASS TIGD3 220359 broad.mit.edu 37 11 65124249 65124249 + Missense_Mutation SNP G A A rs150239664 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:65124249G>A uc001odo.3 + 2 1133 c.970G>A c.(970-972)GAT>AAT p.D324N NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 324 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 AAGCGAGAGGGATGGCACCTC 0.662 15 64 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65385808 65385808 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:65385808C>T uc001oey.2 + 6 975 c.975C>T c.(973-975)AGC>AGT p.S325S NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 325 integral to membrane 0 ATCTGGACAGCCCCCCAGGGG 0.647 26 99 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65403086 65403086 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:65403086C>T uc001oey.2 + 32 5271 c.5271C>T c.(5269-5271)AGC>AGT p.S1757S PCNXL3_uc001oez.2_Silent_p.S644S NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1757 integral to membrane 0 AGCGTGGCAGCATCCAGAACG 0.662 17 55 --- --- --- --- PASS ACTN3 89 broad.mit.edu 37 11 66328210 66328210 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:66328210A>G uc001oio.1 + 16 1862 c.1844A>G c.(1843-1845)AAC>AGC p.N615S ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 615 Spectrin 3. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 CAGGACATCAACACCAAGTGG 0.582 56 248 --- --- --- --- PASS CORO1B 57175 broad.mit.edu 37 11 67207901 67207901 + Missense_Mutation SNP C G G rs149251927 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:67207901C>G uc001olj.1 - 6 802 c.766G>C c.(766-768)GAG>CAG p.E256Q PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.E256Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.E256Q NM_020441 NP_065174 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 256 WD 4. actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding large_intestine(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) ATGGGTTCCTCGAGGTTTTCC 0.622 23 102 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70009404 70009404 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:70009404G>A uc001opj.2 + 19 2213 c.1908G>A c.(1906-1908)CCG>CCA p.P636P ANO1_uc001opk.1_Silent_p.P578P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.P345P NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 636 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TTGGACGCCCGGGCGACTACG 0.532 5 68 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71724415 71724415 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:71724415C>T uc001orl.1 - 15 4306 c.4134G>A c.(4132-4134)GAG>GAA p.E1378E NUMA1_uc009ysw.1_Silent_p.E941E|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.E1378E|NUMA1_uc001orn.2_Silent_p.E941E|NUMA1_uc009ysx.1_Silent_p.E1378E|NUMA1_uc001oro.1_Silent_p.E1378E NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1378 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GGTGGCGTTTCTCGGCAGCGG 0.687 T RARA APL 11 36 --- --- --- --- PASS SLCO2B1 11309 broad.mit.edu 37 11 74913991 74913991 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:74913991C>T uc001owb.2 + 12 2196 c.1809C>T c.(1807-1809)TTC>TTT p.F603F SLCO2B1_uc010rrq.1_Silent_p.F348F|SLCO2B1_uc010rrr.1_Silent_p.F459F|SLCO2B1_uc010rrs.1_Silent_p.F487F|SLCO2B1_uc001owc.2_Silent_p.F376F|SLCO2B1_uc001owd.2_Silent_p.F581F NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 603 Helical; Name=11; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) GCATCCAGTTCATGTTCCTGA 0.428 53 229 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75438510 75438510 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:75438510C>A uc010rru.1 + 3 301 c.301C>A c.(301-303)CGG>AGG p.R101R MOGAT2_uc001oww.1_Silent_p.R101R|MOGAT2_uc010rrv.1_Silent_p.R19R NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 101 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GGACCCCTCTCGGAACTACAT 0.463 19 108 --- --- --- --- PASS UVRAG 7405 broad.mit.edu 37 11 75852449 75852449 + Missense_Mutation SNP G A A rs147254159 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:75852449G>A uc001oxc.2 + 15 2333 c.2092G>A c.(2092-2094)GAT>AAT p.D698N UVRAG_uc010rrw.1_Missense_Mutation_p.D597N|UVRAG_uc001oxd.2_Missense_Mutation_p.D326N|UVRAG_uc010rrx.1_Missense_Mutation_p.D326N|UVRAG_uc010rry.1_Missense_Mutation_p.D254N NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 698 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 CAGGAGTTCCGATAAGTGAAG 0.478 13 65 --- --- --- --- PASS TRIM49 57093 broad.mit.edu 37 11 89537478 89537478 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:89537478C>T uc001pdb.2 - 3 489 c.160G>A c.(160-162)GAA>AAA p.E54K NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 54 RING-type. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTTGTGCATTCAGAGCACTGG 0.463 23 161 --- --- --- --- PASS PANX1 24145 broad.mit.edu 37 11 93862491 93862491 + Nonsense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:93862491C>T uc001per.2 + 1 398 c.13C>T c.(13-15)CAA>TAA p.Q5* uc001pen.1_Intron|PANX1_uc001peq.2_Nonsense_Mutation_p.Q5* NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 5 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGCCATCGCTCAACTGGCCAC 0.662 21 57 --- --- --- --- PASS MRE11A 4361 broad.mit.edu 37 11 94180422 94180422 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:94180422C>T uc001peu.2 - 15 1935 c.1746G>A c.(1744-1746)CAG>CAA p.Q582Q MRE11A_uc001pev.2_Silent_p.Q582Q|MRE11A_uc009ywj.2_Silent_p.Q585Q NM_005591 NP_005582 P49959 MRE11_HUMAN meiotic recombination 11 homolog A isoform 1 582 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(4)|lung(1) 5 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) ATGCTGAATTCTGCCCTCTTC 0.478 Homologous_recombination Ataxia-Telangiectasia-Like_Disorder 22 426 --- --- --- --- PASS CCDC82 79780 broad.mit.edu 37 11 96117808 96117808 + Nonsense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:96117808G>C uc009ywp.2 - 1 347 c.104C>G c.(103-105)TCA>TGA p.S35* CCDC82_uc009ywq.2_Nonsense_Mutation_p.S35*|CCDC82_uc001pfx.3_Nonsense_Mutation_p.S35*|CCDC82_uc009ywr.2_Nonsense_Mutation_p.S35*|CCDC82_uc009yws.2_Nonsense_Mutation_p.S35* NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 35 protein binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) AAGTAATTGTGAGATACTACT 0.358 13 61 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 102993708 102993708 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:102993708C>T uc001pho.2 + 11 1784 c.1640C>T c.(1639-1641)TCT>TTT p.S547F DYNC2H1_uc001phn.1_Missense_Mutation_p.S547F|DYNC2H1_uc009yxe.1_Missense_Mutation_p.S547F NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 547 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCAGGTTTATCTGATTCCAGA 0.333 4 16 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105623869 105623869 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:105623869C>A uc001pix.2 + 4 856 c.410C>A c.(409-411)TCG>TAG p.S137* GRIA4_uc001piu.1_Nonsense_Mutation_p.S137*|GRIA4_uc001piw.2_Nonsense_Mutation_p.S137*|GRIA4_uc001piv.2_Nonsense_Mutation_p.S137*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.S137* NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 137 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTAAGACCTTCGTTACGAGGA 0.473 29 107 --- --- --- --- PASS KIAA1826 84437 broad.mit.edu 37 11 105881453 105881453 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:105881453C>G uc001piy.2 - 2 365 c.192G>C c.(190-192)AGG>AGC p.R64S KIAA1826_uc001piz.2_Missense_Mutation_p.R64S NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 64 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) CTGTCCCTGTCCTCTGTTCTC 0.453 10 502 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107288944 107288944 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:107288944G>C uc010rvp.1 - 9 1533 c.1503C>G c.(1501-1503)ATC>ATG p.I501M CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 501 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCTCTGCTTTGATAATCTTGG 0.363 17 78 --- --- --- --- PASS DIXDC1 85458 broad.mit.edu 37 11 111864426 111864426 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:111864426G>T uc001pml.2 + 15 1696 c.1399G>T c.(1399-1401)GTC>TTC p.V467F DIXDC1_uc001pmm.2_Missense_Mutation_p.V256F|DIXDC1_uc001pmn.2_Missense_Mutation_p.V173F|DIXDC1_uc010rwq.1_Missense_Mutation_p.V132F NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 467 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) ACACAAAGATGTCCTCTTGGC 0.463 11 59 --- --- --- --- PASS ZBTB16 7704 broad.mit.edu 37 11 114121138 114121138 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:114121138C>T uc001pop.2 + 7 2147 c.1883C>T c.(1882-1884)TCG>TTG p.S628L ZBTB16_uc001poq.2_Missense_Mutation_p.S628L NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 628 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AACGGCGCCTCGCCCTACCAG 0.627 28 140 --- --- --- --- PASS BUD13 84811 broad.mit.edu 37 11 116633715 116633715 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:116633715G>A uc001ppn.2 - 4 624 c.590C>T c.(589-591)TCT>TTT p.S197F BUD13_uc001ppo.2_Missense_Mutation_p.S197F|BUD13_uc009yzc.2_Missense_Mutation_p.S197F NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 197 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) AGGATCTGGAGAATCATGACG 0.567 39 253 --- --- --- --- PASS TMPRSS4 56649 broad.mit.edu 37 11 117969767 117969767 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:117969767C>T uc010rxo.1 + 3 402 c.111C>T c.(109-111)ATC>ATT p.I37I TMPRSS4_uc010rxp.1_Silent_p.I37I|TMPRSS4_uc010rxq.1_Intron|TMPRSS4_uc010rxr.1_Silent_p.I12I|TMPRSS4_uc010rxs.1_Intron|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.I12I NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 37 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TCCCCATCATCATAGCACTAC 0.527 36 134 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118374740 118374740 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:118374740G>A uc001pta.2 + 27 8147 c.8124G>A c.(8122-8124)CAG>CAA p.Q2708Q MLL_uc001ptb.2_Silent_p.Q2711Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2708 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGGAGGAACAGTGTGATCTTC 0.428 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 21 83 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189230 124189230 + Silent SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:124189230T>A uc010sah.1 - 1 864 c.864A>T c.(862-864)CTA>CTT p.L288L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GGCTATAGATTAGAGGATTCA 0.433 51 242 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920413 4920413 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:4920413C>T uc001qng.2 + 1 2072 c.1206C>T c.(1204-1206)GAC>GAT p.D402D NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 402 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CTGACGATGACGATTCGCTTT 0.572 HNSCC(72;0.22) 25 218 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7469835 7469835 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:7469835C>T uc001qsx.1 + 4 723 c.723C>T c.(721-723)CAC>CAT p.H241H NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 241 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 TGGCCCAGCACTCTCAGAGCA 0.428 5 15 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9318783 9318783 + Missense_Mutation SNP A T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:9318783A>T uc001qvl.2 - 18 2152 c.2123T>A c.(2122-2124)GTA>GAA p.V708E PZP_uc009zgl.2_Missense_Mutation_p.V577E|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.V40E NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGGTCTCTCTACTACTCCTAG 0.368 13 81 --- --- --- --- PASS MANSC1 54682 broad.mit.edu 37 12 12483226 12483226 + Nonsense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:12483226G>C uc001rai.1 - 4 1289 c.1031C>G c.(1030-1032)TCA>TGA p.S344* MANSC1_uc010shm.1_Nonsense_Mutation_p.S278*|MANSC1_uc001raj.1_Nonsense_Mutation_p.S310*|MANSC1_uc009zht.1_Nonsense_Mutation_p.S263* NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 344 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CTCCACATTTGACATAGAAAG 0.463 26 215 --- --- --- --- PASS STRAP 11171 broad.mit.edu 37 12 16043599 16043599 + Missense_Mutation SNP A C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:16043599A>C uc001rdc.3 + 4 753 c.399A>C c.(397-399)GAA>GAC p.E133D STRAP_uc010shw.1_Missense_Mutation_p.E146D|STRAP_uc001rdd.3_Missense_Mutation_p.E39D NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 133 WD 3. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) ACAAACCTGAAGCAGGTAAGC 0.289 14 76 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21926476 21926476 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:21926476C>G uc001rff.2 - 2 413 c.75G>C c.(73-75)CCG>CCC p.P25P NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 25 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CTCGGATGCGCGGCTTGCGCA 0.607 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 160 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26839460 26839460 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:26839460C>T uc001rhg.2 - 11 1519 c.1102G>A c.(1102-1104)GAA>AAA p.E368K NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 368 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GCATCTAGTTCAAAAAGGGAT 0.413 32 171 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31307356 31307356 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:31307356T>C uc010sjy.1 - 7 724 c.724A>G c.(724-726)AAA>GAA p.K242E RecName: Full=Ovostatin homolog 1; Flags: Precursor; ATTTGGGTTTTCCCTTGCACA 0.383 2 14 --- --- --- --- PASS DENND5B 160518 broad.mit.edu 37 12 31540554 31540554 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:31540554T>C uc001rki.1 - 21 3994 c.3808A>G c.(3808-3810)AAA>GAA p.K1270E DENND5B_uc001rkh.1_Missense_Mutation_p.K1305E|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1270 integral to membrane ovary(1)|central_nervous_system(1) 2 TCCACTCCTTTGATGAGTGAT 0.502 8 62 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41327501 41327501 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:41327501C>T uc001rmm.1 + 9 919 c.806C>T c.(805-807)CCT>CTT p.P269L CNTN1_uc009zjy.1_Missense_Mutation_p.P269L|CNTN1_uc001rmn.1_Missense_Mutation_p.P258L|CNTN1_uc001rmo.2_Missense_Mutation_p.P269L NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 269 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATTTAAAGTCCTGTTCCGGAT 0.363 13 112 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41327632 41327632 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:41327632G>A uc001rmm.1 + 9 1050 c.937G>A c.(937-939)GAG>AAG p.E313K CNTN1_uc009zjy.1_Missense_Mutation_p.E313K|CNTN1_uc001rmn.1_Missense_Mutation_p.E302K|CNTN1_uc001rmo.2_Missense_Mutation_p.E313K NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 313 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ATGTGAGGCTGAGAACATTAG 0.348 13 90 --- --- --- --- PASS DBX2 440097 broad.mit.edu 37 12 45410159 45410159 + Silent SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:45410159T>A uc001rok.1 - 4 1102 c.930A>T c.(928-930)CCA>CCT p.P310P NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 310 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) CTTCTGGGGGTGGTGCCCCTG 0.483 24 124 --- --- --- --- PASS EIF4B 1975 broad.mit.edu 37 12 53427811 53427811 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:53427811C>T uc001sbh.3 + 9 1407 c.1201C>T c.(1201-1203)CGG>TGG p.R401W EIF4B_uc010snu.1_Missense_Mutation_p.R401W|EIF4B_uc010snv.1_Missense_Mutation_p.R362W|EIF4B_uc001sbi.2_Missense_Mutation_p.R153W NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 401 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 ACGACGGCCTCGGGAGAGGTG 0.348 3 11 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54109031 54109031 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:54109031T>C uc001sef.2 - 10 1483 c.1339A>G c.(1339-1341)AAC>GAC p.N447D CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.N362D|CALCOCO1_uc010son.1_Missense_Mutation_p.N324D|CALCOCO1_uc001seh.2_Missense_Mutation_p.N447D|CALCOCO1_uc009znd.2_Missense_Mutation_p.N447D|CALCOCO1_uc001seg.2_Missense_Mutation_p.N272D|CALCOCO1_uc010soo.1_Missense_Mutation_p.N440D NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 447 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 AACACTTGGTTTTGGGTCCTC 0.537 34 123 --- --- --- --- PASS ITGA5 3678 broad.mit.edu 37 12 54795380 54795380 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:54795380G>A uc001sga.2 - 23 2444 c.2376C>T c.(2374-2376)GTC>GTT p.V792V NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 792 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 CGTTCAGGGTGACCTGGGCCT 0.562 40 227 --- --- --- --- PASS OR6C6 283365 broad.mit.edu 37 12 55688850 55688850 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:55688850G>T uc010sph.1 - 1 167 c.167C>A c.(166-168)CCA>CAA p.P56Q NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GAAATACATTGGCGTCTTGAG 0.403 11 73 --- --- --- --- PASS ORMDL2 29095 broad.mit.edu 37 12 56214138 56214138 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:56214138C>G uc001shw.1 + 4 513 c.421C>G c.(421-423)CAG>GAG p.Q141E SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank NM_014182 NP_054901 Q53FV1 ORML2_HUMAN ORMDL2 141 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane 0 GAAGTTGCCCCAGTTCCATGG 0.517 55 220 --- --- --- --- PASS LEMD3 23592 broad.mit.edu 37 12 65564780 65564780 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:65564780C>A uc001ssl.1 + 1 1410 c.1404C>A c.(1402-1404)TTC>TTA p.F468L LEMD3_uc009zqo.1_Missense_Mutation_p.F468L NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 468 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) CAGGGAGTTTCAGTGCCCACT 0.468 30 154 --- --- --- --- PASS KCNMB4 27345 broad.mit.edu 37 12 70824332 70824332 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:70824332C>T uc001svx.2 + 3 985 c.532C>T c.(532-534)CTG>TTG p.L178L uc001svy.1_5'Flank NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 178 Helical; Name=2; (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CCTCTGGCCCCTGGTGACATT 0.512 49 266 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72866928 72866928 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:72866928G>T uc001sxa.2 + 5 1447 c.1417G>T c.(1417-1419)GGT>TGT p.G473C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 473 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TGAATTTGTTGGTACAGACTA 0.423 43 272 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400750 78400750 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:78400750G>C uc001syp.2 + 8 1605 c.1432G>C c.(1432-1434)GTT>CTT p.V478L NAV3_uc001syo.2_Missense_Mutation_p.V478L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 478 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAAATAAAGTTTGCACTGA 0.408 HNSCC(70;0.22) 21 85 --- --- --- --- PASS C12orf26 84190 broad.mit.edu 37 12 82850552 82850552 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:82850552G>C uc001szq.2 + 9 1546 c.1525G>C c.(1525-1527)GAT>CAT p.D509H NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 509 0 TTCTTTTCTGGATTATGTCAG 0.303 3 12 --- --- --- --- PASS LTA4H 4048 broad.mit.edu 37 12 96407023 96407023 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:96407023T>C uc001ten.1 - 14 1390 c.1322A>G c.(1321-1323)AAT>AGT p.N441S LTA4H_uc010suy.1_Missense_Mutation_p.N403S|LTA4H_uc010suz.1_Missense_Mutation_p.N403S|LTA4H_uc010sva.1_RNA|LTA4H_uc009ztj.2_RNA NM_000895 NP_000886 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 441 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1) 1 ATCAACTTGATTGAGAACATC 0.373 22 94 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100811899 100811899 + Missense_Mutation SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:100811899T>A uc010svi.1 + 11 1703 c.1390T>A c.(1390-1392)TGT>AGT p.C464S SLC17A8_uc009ztx.2_Missense_Mutation_p.C414S NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 464 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TGGAATGGTCTGTCCCCTCAT 0.502 42 233 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101491677 101491677 + Missense_Mutation SNP A C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:101491677A>C uc010svm.1 + 21 2532 c.1960A>C c.(1960-1962)ATG>CTG p.M654L ANO4_uc001thw.2_Missense_Mutation_p.M619L|ANO4_uc001thx.2_Missense_Mutation_p.M654L|ANO4_uc001thy.2_Missense_Mutation_p.M174L NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 654 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGGTATTATAATGgtgctaaa 0.289 HNSCC(74;0.22) 32 237 --- --- --- --- PASS ANAPC7 51434 broad.mit.edu 37 12 110834113 110834113 + Silent SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:110834113C>A uc001tqo.2 - 2 349 c.348G>T c.(346-348)GTG>GTT p.V116V ANAPC7_uc001tqp.3_Silent_p.V116V NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 116 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 TTGAAGGTCTCACTTTTGAAG 0.348 27 134 --- --- --- --- PASS SDSL 113675 broad.mit.edu 37 12 113874664 113874664 + Silent SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:113874664T>C uc001tvi.2 + 8 990 c.780T>C c.(778-780)GCT>GCC p.A260A SDSL_uc009zwh.2_Silent_p.A260A NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 260 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CTGTGAGCGCTGTGCAGCAGC 0.577 4 37 --- --- --- --- PASS TAOK3 51347 broad.mit.edu 37 12 118693275 118693275 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr12:118693275C>G uc001twx.2 - 3 393 c.98G>C c.(97-99)GGA>GCA p.G33A TAOK3_uc001twy.3_Missense_Mutation_p.G33A NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 33 ATP (By similarity).|Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCAAAACTTCCATGTCCAAT 0.328 24 148 --- --- --- --- PASS WASF3 10810 broad.mit.edu 37 13 27255321 27255321 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:27255321G>A uc001uqv.2 + 8 1072 c.847G>A c.(847-849)GAG>AAG p.E283K WASF3_uc001uqw.2_Missense_Mutation_p.E280K NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 283 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCAGGCTGCGGAGCATGAGTA 0.682 52 163 --- --- --- --- PASS PAN3 255967 broad.mit.edu 37 13 28844960 28844960 + Nonsense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:28844960C>T uc001urz.2 + 12 1485 c.1477C>T c.(1477-1479)CGA>TGA p.R493* PAN3_uc010tdo.1_Nonsense_Mutation_p.R639*|PAN3_uc001ury.2_Nonsense_Mutation_p.R327*|PAN3_uc001urx.2_Nonsense_Mutation_p.R439* NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 639 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTTGGCATGTCGAGTTATGGA 0.398 35 266 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599209 29599209 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:29599209G>A uc001usl.3 + 1 462 c.404G>A c.(403-405)CGG>CAG p.R135Q NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 125 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CAGACCACGCGGAGTATTCAG 0.493 8 141 --- --- --- --- PASS SMAD9 4093 broad.mit.edu 37 13 37446942 37446942 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:37446942C>T uc001uvw.2 - 3 866 c.523G>A c.(523-525)GCC>ACC p.A175T SMAD9_uc001uvx.2_Missense_Mutation_p.A175T|SMAD9_uc010tep.1_Missense_Mutation_p.A5T NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 175 BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GGATAGGTGGCGTTGTGTGGC 0.622 10 80 --- --- --- --- PASS ELF1 1997 broad.mit.edu 37 13 41533078 41533078 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:41533078G>A uc001uxs.2 - 3 520 c.147C>T c.(145-147)GCC>GCT p.A49A ELF1_uc010tfc.1_Silent_p.A49A|ELF1_uc010acd.2_5'UTR NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 49 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) AGGCTAGACCGGCATAACTAT 0.448 17 163 --- --- --- --- PASS EPSTI1 94240 broad.mit.edu 37 13 43491753 43491753 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:43491753C>G uc001uyw.1 - 9 774 c.698G>C c.(697-699)AGC>ACC p.S233T EPSTI1_uc001uyx.1_Missense_Mutation_p.S222T NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 233 ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) GTAAGCCCAGCTTCTGGCCTG 0.388 35 193 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61985578 61985578 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:61985578G>C uc001vid.3 - 2 3018 c.2654C>G c.(2653-2655)TCT>TGT p.S885C PCDH20_uc010thj.1_Missense_Mutation_p.S885C NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 858 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGGCATACAAGACACAGATTC 0.403 14 52 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84455289 84455289 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:84455289G>A uc001vlk.2 - 1 1240 c.354C>T c.(352-354)ATC>ATT p.I118I NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 118 Extracellular (Potential).|LRR 3. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAAAAGACTTGATCTTGTTGT 0.468 29 173 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88330396 88330396 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:88330396G>T uc001vln.2 + 2 2972 c.2753G>T c.(2752-2754)AGC>ATC p.S918I SLITRK5_uc010tic.1_Missense_Mutation_p.S677I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 918 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTGCTCTACAGCCCCCCGAGT 0.542 69 321 --- --- --- --- PASS OXGR1 27199 broad.mit.edu 37 13 97639439 97639439 + Missense_Mutation SNP A C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:97639439A>C uc001vmx.1 - 4 819 c.575T>G c.(574-576)CTC>CGC p.L192R OXGR1_uc010afr.1_Missense_Mutation_p.L192R NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 192 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AATAGTATTGAGTTCATCCGA 0.448 24 145 --- --- --- --- PASS TPP2 7174 broad.mit.edu 37 13 103326657 103326657 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr13:103326657C>T uc001vpi.3 + 27 3460 c.3357C>T c.(3355-3357)ACC>ACT p.T1119T NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 1119 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAAATCCACCCTCGTAGATG 0.388 12 70 --- --- --- --- PASS CLEC14A 161198 broad.mit.edu 37 14 38724625 38724625 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:38724625G>T uc001wum.1 - 1 950 c.603C>A c.(601-603)GCC>GCA p.A201A NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 201 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AGTCCAGAGCGGCGCTGTGCA 0.537 44 262 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360802 42360802 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:42360802C>A uc001wvm.2 + 4 2933 c.1735C>A c.(1735-1737)CAA>AAA p.Q579K LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 579 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGCTCAAATACAAGGCTGTAG 0.453 HNSCC(30;0.082) 9 116 --- --- --- --- PASS FRMD6 122786 broad.mit.edu 37 14 52192507 52192507 + Silent SNP G C C rs147239419 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:52192507G>C uc001wzd.2 + 13 1788 c.1503G>C c.(1501-1503)GTG>GTC p.V501V FRMD6_uc001wzb.2_Silent_p.V493V|FRMD6_uc001wzc.2_Silent_p.V493V|FRMD6_uc001wze.2_Silent_p.V424V|FRMD6_uc001wzf.2_Silent_p.V194V|FRMD6_uc001wzg.2_Silent_p.V143V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 501 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGTTGATTGTGAAAGAAATTG 0.358 16 136 --- --- --- --- PASS TBPL2 387332 broad.mit.edu 37 14 55903374 55903374 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:55903374C>T uc001xby.2 - 2 513 c.513G>A c.(511-513)GAG>GAA p.E171E NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 171 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 AGTTTGGTTTCTCAGGAGAGG 0.493 61 93 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68228958 68228958 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:68228958C>G uc001xka.2 - 34 6470 c.6331G>C c.(6331-6333)GAG>CAG p.E2111Q ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_5'Flank|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E2111Q NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2111 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCTAGGTACTCAACCACATCC 0.542 25 57 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72054674 72054674 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:72054674G>A uc001xms.2 + 2 433 c.85G>A c.(85-87)GTC>ATC p.V29I SIPA1L1_uc001xmt.2_Missense_Mutation_p.V29I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V29I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V29I NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 29 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CACCCCCAAAGTCCACACTGA 0.527 61 145 --- --- --- --- PASS TMEM90A 646658 broad.mit.edu 37 14 74876048 74876048 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr14:74876048C>T uc001xpx.2 - 2 648 c.400G>A c.(400-402)GAC>AAC p.D134N NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 134 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) TCCTCCTGGTCATCCTCCTGG 0.408 119 238 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23932119 23932119 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:23932119G>T uc001ywk.2 - 1 332 c.246C>A c.(244-246)GCC>GCA p.A82A NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 82 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCGCGCTCGGGGCCTGGTGGG 0.766 Prader-Willi_syndrome 10 17 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24922909 24922909 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:24922909C>T uc001ywo.2 + 1 2369 c.1895C>T c.(1894-1896)ACC>ATC p.T632I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 632 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CACAATACCACCCCAAGTTTT 0.498 8 179 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33359183 33359183 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:33359183C>G uc001zhf.3 - 1 903 c.903G>C c.(901-903)AAG>AAC p.K301N FMN1_uc001zhg.2_Missense_Mutation_p.K301N NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AGTCCCCATCCTTTGGTTTAA 0.502 16 59 --- --- --- --- PASS C15orf24 56851 broad.mit.edu 37 15 34380305 34380305 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:34380305T>C uc001zhm.2 - 4 538 c.525A>G c.(523-525)ATA>ATG p.I175M C15orf24_uc001zhn.2_Missense_Mutation_p.I58M NM_020154 NP_064539 Q9NPA0 CO024_HUMAN chromosome 15 open reading frame 24 precursor 175 Helical; (Potential). cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding 0 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) GAAGCACAAATATCAATAAAG 0.328 11 35 --- --- --- --- PASS SPRED1 161742 broad.mit.edu 37 15 38591612 38591612 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:38591612G>C uc001zka.3 + 2 406 c.71G>C c.(70-72)CGA>CCA p.R24P NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 24 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GTGATGACCCGAGATGACTCA 0.458 Legius_syndrome 21 99 --- --- --- --- PASS SPRED1 161742 broad.mit.edu 37 15 38614556 38614556 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:38614556G>A uc001zka.3 + 3 657 c.322G>A c.(322-324)GAT>AAT p.D108N NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 108 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AAGTCCTGCTGATGCTAGGGC 0.343 Legius_syndrome 8 180 --- --- --- --- PASS SLTM 79811 broad.mit.edu 37 15 59179632 59179632 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:59179632C>G uc002afp.2 - 18 2571 c.2483G>C c.(2482-2484)AGA>ACA p.R828T SLTM_uc002afn.2_Missense_Mutation_p.R370T|SLTM_uc002afo.2_Missense_Mutation_p.R810T|SLTM_uc002afq.2_Missense_Mutation_p.R397T|SLTM_uc010bgd.2_Missense_Mutation_p.R397T NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 828 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 AGGCTCATTTCTTCTGGAGTC 0.468 51 177 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65772652 65772652 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr15:65772652C>T uc002aov.2 - 10 2830 c.1252G>A c.(1252-1254)GAT>AAT p.D418N DPP8_uc002aow.2_Missense_Mutation_p.D418N|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.D402N|DPP8_uc002aoy.2_Missense_Mutation_p.D418N|DPP8_uc002aoz.2_Missense_Mutation_p.D402N|DPP8_uc010bhj.2_Missense_Mutation_p.D418N|DPP8_uc002apa.2_Missense_Mutation_p.D315N|DPP8_uc010bhk.1_Intron NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 418 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TCCATAACATCATCTTCTACT 0.393 21 55 --- --- --- --- PASS PDIA2 64714 broad.mit.edu 37 16 335575 335575 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:335575G>C uc002cgn.1 + 12 2099 c.991G>C c.(991-993)GAG>CAG p.E331Q PDIA2_uc010bqt.1_Missense_Mutation_p.E176Q|PDIA2_uc002cgo.1_Missense_Mutation_p.E331Q NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 331 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) ACTCAAGGCTGAGGCAGCCCC 0.612 22 152 --- --- --- --- PASS TMEM8A 58986 broad.mit.edu 37 16 424308 424308 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:424308G>C uc002cgu.3 - 10 1797 c.1668C>G c.(1666-1668)CTC>CTG p.L556L TMEM8A_uc002cgv.3_Silent_p.L363L NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 556 Helical; (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 CCAGGAACATGAGGTTGCTGA 0.657 OREG0003702 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 154 --- --- --- --- PASS ZSCAN10 84891 broad.mit.edu 37 16 3139147 3139147 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:3139147C>T uc002ctv.1 - 5 2211 c.2123G>A c.(2122-2124)CGC>CAC p.R708H ZSCAN10_uc002cty.1_Missense_Mutation_p.R369H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R626H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R636H NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 708 C2H2-type 14. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GTGGGAGTTGCGGCTGAAGCT 0.706 3 26 --- --- --- --- PASS PPL 5493 broad.mit.edu 37 16 4935007 4935007 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:4935007C>G uc002cyd.1 - 22 3739 c.3649G>C c.(3649-3651)GAG>CAG p.E1217Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1217 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CTGAGGGCCTCCAGCTCACTC 0.597 32 157 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16103674 16103674 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:16103674C>T uc010bvi.2 + 3 442 c.267C>T c.(265-267)CTC>CTT p.L89L ABCC1_uc010bvj.2_Silent_p.L89L|ABCC1_uc010bvk.2_Silent_p.L89L|ABCC1_uc010bvl.2_Silent_p.L89L|ABCC1_uc010bvm.2_Silent_p.L89L|ABCC1_uc002del.3_5'UTR NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 89 Helical; Name=2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCAGACCTCTTCTACTCTT 0.552 28 365 --- --- --- --- PASS RBBP6 5930 broad.mit.edu 37 16 24582687 24582687 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:24582687C>G uc002dmh.2 + 18 5340 c.4300C>G c.(4300-4302)CTG>GTG p.L1434V RBBP6_uc002dmi.2_Missense_Mutation_p.L1400V|RBBP6_uc010bxr.2_Missense_Mutation_p.L594V|RBBP6_uc002dmk.2_Missense_Mutation_p.L1267V NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1434 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) TTTGGACCGTCTGAATGAACA 0.398 26 116 --- --- --- --- PASS SHCBP1 79801 broad.mit.edu 37 16 46649999 46649999 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:46649999G>A uc002eec.3 - 4 495 c.455C>T c.(454-456)TCT>TTT p.S152F NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 152 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GCTCACTTGAGAGTCACAGAG 0.473 15 120 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50830242 50830242 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:50830242G>C uc002egp.1 + 19 3109 c.2694G>C c.(2692-2694)CAG>CAC p.Q898H CYLD_uc002egq.1_Missense_Mutation_p.Q895H|CYLD_uc002egr.1_Missense_Mutation_p.Q895H NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 898 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TAGGTGGTCAGAATGGCTTCA 0.438 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 3 86 --- --- --- --- PASS RSPRY1 89970 broad.mit.edu 37 16 57238833 57238833 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:57238833G>A uc002elb.2 + 2 541 c.263G>A c.(262-264)CGA>CAA p.R88Q RSPRY1_uc002elc.2_Missense_Mutation_p.R88Q|RSPRY1_uc002eld.2_Missense_Mutation_p.R88Q|RSPRY1_uc002ele.1_Missense_Mutation_p.R88Q NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 88 extracellular region zinc ion binding ovary(1) 1 AGGAGGGGCCGAGGACCTCAT 0.527 25 99 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61851444 61851444 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:61851444G>C uc002eog.1 - 7 1468 c.1216C>G c.(1216-1218)CTA>GTA p.L406V CDH8_uc002eoh.2_Missense_Mutation_p.L175V NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 406 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACGGAGTTTAGAGCAGCATTT 0.433 16 93 --- --- --- --- PASS THAP11 57215 broad.mit.edu 37 16 67876805 67876805 + Silent SNP A G G rs28434205 byFrequency TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:67876805A>G uc002euo.2 + 1 593 c.348A>G c.(346-348)CAA>CAG p.Q116Q CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 116 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) aacagcagcaacagcagcagc 0.303 6 38 --- --- --- --- PASS HPR 3250 broad.mit.edu 37 16 72108264 72108264 + Missense_Mutation SNP G A A rs152833 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr16:72108264G>A uc002fby.2 + 3 203 c.173G>A c.(172-174)AGA>AAA p.R58K TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 58 Sushi. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) AACTACTACAGACTGCGCACA 0.507 28 98 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C T T rs28934576 by1000genomes TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). 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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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) 13 41 --- --- --- --- PASS KSR1 8844 broad.mit.edu 37 17 25938601 25938601 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:25938601C>T uc010crg.2 + 19 2539 c.2094C>T c.(2092-2094)AGC>AGT p.S698S KSR1_uc002gzm.2_Silent_p.S477S|KSR1_uc002gzn.2_Silent_p.S49S NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 833 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(1) 4 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGATTGGAAGCGGGGAAGGAA 0.567 14 68 --- --- --- --- PASS IFT20 90410 broad.mit.edu 37 17 26655743 26655743 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:26655743C>T uc002haw.1 - 5 466 c.334G>A c.(334-336)GAA>AAA p.E112K IFT20_uc002hau.1_3'UTR|IFT20_uc002hav.1_Missense_Mutation_p.E138K|TNFAIP1_uc002hax.1_5'Flank Q8IY31 IFT20_HUMAN RecName: Full=Intraflagellar transport protein 20 homolog; Short=hIFT20; 112 IFT57-binding (By similarity).|Potential. cell projection organization centriole|cilium|Golgi apparatus|microtubule basal body protein binding 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CACAAAGCTTCATATTCAACC 0.318 6 51 --- --- --- --- PASS IFT20 90410 broad.mit.edu 37 17 26655748 26655748 + Missense_Mutation SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:26655748T>A uc002haw.1 - 5 461 c.329A>T c.(328-330)GAA>GTA p.E110V IFT20_uc002hau.1_Nonstop_Mutation_p.*149C|IFT20_uc002hav.1_Missense_Mutation_p.E136V|TNFAIP1_uc002hax.1_5'Flank Q8IY31 IFT20_HUMAN RecName: Full=Intraflagellar transport protein 20 homolog; Short=hIFT20; 110 IFT57-binding (By similarity).|Potential. cell projection organization centriole|cilium|Golgi apparatus|microtubule basal body protein binding 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AGCTTCATATTCAACCCGATA 0.313 6 52 --- --- --- --- PASS NEK8 284086 broad.mit.edu 37 17 27065226 27065226 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:27065226C>G uc002hcp.2 + 8 1185 c.1185C>G c.(1183-1185)CAC>CAG p.H395Q NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 395 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) CCATCAAGCACGTGGCCTGTG 0.627 18 118 --- --- --- --- PASS CRLF3 51379 broad.mit.edu 37 17 29111225 29111225 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:29111225A>G uc002hfr.3 - 8 1418 c.1309T>C c.(1309-1311)TGG>CGG p.W437R CRLF3_uc010wbr.1_Missense_Mutation_p.W321R NM_015986 NP_057070 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 437 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm 0 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) AACACTTTCCATCCAGGATAG 0.378 16 78 --- --- --- --- PASS PNMT 5409 broad.mit.edu 37 17 37824826 37824826 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:37824826G>A uc002hsi.1 + 1 320 c.98G>A c.(97-99)CGC>CAC p.R33H NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 33 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCGAGCCGCGCGCCTACCTC 0.731 6 21 --- --- --- --- PASS KRT24 192666 broad.mit.edu 37 17 38859884 38859884 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:38859884G>C uc002hvd.2 - 1 119 c.62C>G c.(61-63)TCT>TGT p.S21C NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 21 Head.|Gly-rich. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) TCCACCAGCAGACACCCTGGC 0.637 5 105 --- --- --- --- PASS SCPEP1 59342 broad.mit.edu 37 17 55079507 55079507 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:55079507C>G uc002iuv.3 + 12 1314 c.1261C>G c.(1261-1263)CTT>GTT p.L421V SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.L371V NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 421 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) CTACAAGAACCTTGCTTTCTA 0.438 30 117 --- --- --- --- PASS MED13 9969 broad.mit.edu 37 17 60038399 60038399 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:60038399T>C uc002izo.2 - 23 5386 c.5309A>G c.(5308-5310)AAG>AGG p.K1770R NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1770 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CTGTTTGTCCTTCACTGGAGC 0.348 26 112 --- --- --- --- PASS TEX2 55852 broad.mit.edu 37 17 62272454 62272454 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:62272454C>A uc002jec.2 - 3 1819 c.1646G>T c.(1645-1647)GGA>GTA p.G549V TEX2_uc002jed.2_Missense_Mutation_p.G549V|TEX2_uc002jee.2_Missense_Mutation_p.G549V NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 549 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ATTCATCCATCCCTGATGAAG 0.373 24 68 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67146196 67146196 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:67146196G>C uc010dfa.1 - 38 5285 c.4406C>G c.(4405-4407)TCT>TGT p.S1469C ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.S461C|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1469 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CGCCATTAAAGAGGAATATCT 0.363 4 90 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72840614 72840614 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:72840614G>A uc002jlt.1 - 12 2540 c.2384C>T c.(2383-2385)TCA>TTA p.S795L GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S795L NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 795 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GCAGATCCCTGAGAGCCACAC 0.557 52 413 --- --- --- --- PASS OTOP2 92736 broad.mit.edu 37 17 72926486 72926486 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:72926486C>T uc010wrp.1 + 7 845 c.756C>T c.(754-756)CTC>CTT p.L252L NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 252 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) AGTACAGCCTCTTCGCCTCCA 0.587 83 771 --- --- --- --- PASS OTOP2 92736 broad.mit.edu 37 17 72926487 72926487 + Missense_Mutation SNP T A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:72926487T>A uc010wrp.1 + 7 846 c.757T>A c.(757-759)TTC>ATC p.F253I NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 253 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) GTACAGCCTCTTCGCCTCCAC 0.592 81 763 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73723837 73723837 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:73723837G>C uc002jpg.2 + 5 557 c.370G>C c.(370-372)GAG>CAG p.E124Q ITGB4_uc002jph.2_Missense_Mutation_p.E124Q|ITGB4_uc010dgo.2_Missense_Mutation_p.E124Q|ITGB4_uc002jpi.3_Missense_Mutation_p.E124Q|ITGB4_uc010dgp.1_Missense_Mutation_p.E124Q|ITGB4_uc002jpj.2_Missense_Mutation_p.E124Q NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 124 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAGGTGTTTGAGCCACTGGA 0.612 13 135 --- --- --- --- PASS CDK3 1018 broad.mit.edu 37 17 73998415 73998415 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:73998415C>T uc010dgt.2 + 5 478 c.402C>T c.(400-402)CTC>CTT p.L134L CDK3_uc002jqg.3_Silent_p.L162L NM_001258 NP_001249 Q00526 CDK3_HUMAN cyclin-dependent kinase 3 134 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 AGAACCTGCTCATCAATGAGT 0.592 6 249 --- --- --- --- PASS CDK3 1018 broad.mit.edu 37 17 73998597 73998597 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr17:73998597G>A uc010dgt.2 + 6 568 c.492G>A c.(490-492)GTG>GTA p.V164V CDK3_uc002jqg.3_Silent_p.V192V NM_001258 NP_001249 Q00526 CDK3_HUMAN cyclin-dependent kinase 3 164 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TGCAGGTGGTGACACTGTGGT 0.532 10 218 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8394534 8394534 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:8394534G>T uc002knn.3 + 30 4733 c.4230G>T c.(4228-4230)CGG>CGT p.R1410R PTPRM_uc010dkv.2_Silent_p.R1423R|PTPRM_uc010wzl.1_Silent_p.R1197R NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1410 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AGATGCTCCGGCACCAGAGAA 0.562 6 49 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13056361 13056361 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:13056361G>T uc010xac.1 + 19 3852 c.3772G>T c.(3772-3774)GCT>TCT p.A1258S CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.A783S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.A999S NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1258 ovary(4)|pancreas(1) 5 CTCTCTCAGCGCTGCTCCTTT 0.552 21 73 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25593661 25593661 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:25593661C>T uc002kwg.2 - 3 844 c.385G>A c.(385-387)GAG>AAG p.E129K CDH2_uc010xbn.1_Missense_Mutation_p.E98K NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 129 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ACTGACTCCTCAGTTAAGGTT 0.418 52 229 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32462073 32462073 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:32462073G>C uc010dmn.1 + 20 2123 c.2122G>C c.(2122-2124)GAA>CAA p.E708Q DTNA_uc002kxw.2_Missense_Mutation_p.E651Q|DTNA_uc010dmj.2_Missense_Mutation_p.E648Q|DTNA_uc002kxz.2_Missense_Mutation_p.E655Q|DTNA_uc002kxy.2_Missense_Mutation_p.E648Q|DTNA_uc010xby.1_Missense_Mutation_p.E398Q|DTNA_uc010xbz.1_Missense_Mutation_p.E417Q|DTNA_uc010xca.1_Missense_Mutation_p.E360Q|DTNA_uc002kye.2_Missense_Mutation_p.E356Q NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 708 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GCCTGAAGATGAAAACTATGA 0.443 26 129 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42531989 42531989 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:42531989A>G uc010dni.2 + 4 2980 c.2684A>G c.(2683-2685)GAT>GGT p.D895G NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 895 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TACTCTTTTGATTTCTGCTCC 0.552 Schinzel-Giedion_syndrome 8 31 --- --- --- --- PASS POLI 11201 broad.mit.edu 37 18 51813728 51813728 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:51813728G>T uc002lfj.3 + 8 1213 c.1145G>T c.(1144-1146)CGT>CTT p.R382L POLI_uc010xds.1_Missense_Mutation_p.R303L|POLI_uc002lfk.3_Missense_Mutation_p.R279L|POLI_uc010dpg.2_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 382 DNA binding. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CACTATGGTCGTGAGAGTCGT 0.403 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 6 25 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67816221 67816221 + Missense_Mutation SNP T G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:67816221T>G uc002lkp.2 - 17 2293 c.2225A>C c.(2224-2226)AAA>ACA p.K742T RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 742 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AGAACTTGCTTTGCTTAGAAG 0.393 30 154 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72346592 72346592 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:72346592C>A uc002llw.2 + 1 3674 c.3617C>A c.(3616-3618)TCT>TAT p.S1206Y ZNF407_uc010xfc.1_Missense_Mutation_p.S1206Y|ZNF407_uc010dqu.1_Missense_Mutation_p.S1206Y|ZNF407_uc002llu.2_Missense_Mutation_p.S1205Y NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TCAGGAAGCTCTGCCTTAAAT 0.438 7 42 --- --- --- --- PASS ANGPTL4 51129 broad.mit.edu 37 19 8438651 8438651 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:8438651C>T uc002mjq.1 + 7 1297 c.1102C>T c.(1102-1104)CCA>TCA p.P368S ANGPTL4_uc002mjr.1_Missense_Mutation_p.P330S|ANGPTL4_uc010xkc.1_Missense_Mutation_p.P201S NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 368 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 CCGCTCCATCCCACAGCAGCG 0.612 79 403 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9017381 9017381 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:9017381G>A uc002mkp.2 - 26 38147 c.37943C>T c.(37942-37944)CCC>CTC p.P12648L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12650 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGGTGTAGGGGCCCAGCTC 0.557 68 418 --- --- --- --- PASS OR7D2 162998 broad.mit.edu 37 19 9297353 9297353 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:9297353G>A uc002mkz.1 + 1 1084 c.896G>A c.(895-897)GGA>GAA p.G299E NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 299 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 GATGTGAAGGGAGCCCTGGGG 0.527 15 88 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9577788 9577788 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:9577788C>A uc002mlp.1 - 10 2045 c.1835G>T c.(1834-1836)CGC>CTC p.R612L ZNF560_uc010dwr.1_Missense_Mutation_p.R506L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 612 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 AAGATCTGAGCGTTCTGTGAA 0.413 34 224 --- --- --- --- PASS CCDC159 126075 broad.mit.edu 37 19 11460356 11460356 + Missense_Mutation SNP A C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:11460356A>C uc010xlw.1 + 3 376 c.297A>C c.(295-297)AAA>AAC p.K99N CCDC159_uc010xlr.1_Missense_Mutation_p.K16N|CCDC159_uc010xls.1_Missense_Mutation_p.K16N|CCDC159_uc010xlt.1_Missense_Mutation_p.K16N|CCDC159_uc010xlu.1_Missense_Mutation_p.K15N|CCDC159_uc010xlv.1_Missense_Mutation_p.K15N NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN coiled-coil domain-containing-like 131 ovary(1) 1 GCTCTTCCAAAGTCAAAGGTG 0.512 4 36 --- --- --- --- PASS STX10 8677 broad.mit.edu 37 19 13255227 13255227 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:13255227G>C uc010xnb.1 - 8 747 c.747C>G c.(745-747)CTC>CTG p.L249L STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Silent_p.L150L NM_003765 NP_003756 O60499 STX10_HUMAN syntaxin 10 249 Helical; Anchor for type IV membrane protein; (Potential). Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) GCTGGGGTCAGAGAGAGAATA 0.632 3 38 --- --- --- --- PASS STX10 8677 broad.mit.edu 37 19 13255242 13255242 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:13255242G>C uc010xnb.1 - 8 732 c.732C>G c.(730-732)ATC>ATG p.I244M STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.I145M NM_003765 NP_003756 O60499 STX10_HUMAN syntaxin 10 244 Helical; Anchor for type IV membrane protein; (Potential). Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) AGAATAGTAAGATGAGAACGA 0.627 5 39 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17951112 17951112 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:17951112G>A uc002nhn.3 - 9 1281 c.1181C>T c.(1180-1182)TCA>TTA p.S394L JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.S394L|JAK3_uc010xpx.1_Missense_Mutation_p.S394L NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 394 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GCCAGGACGTGAGCCCCCAGT 0.537 2 Mis acute megakaryocytic leukemia| 17 68 --- --- --- --- PASS ZNF570 148268 broad.mit.edu 37 19 37975043 37975043 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:37975043G>A uc002ogk.1 + 5 1048 c.519G>A c.(517-519)CAG>CAA p.Q173Q ZNF570_uc010efl.1_Silent_p.Q229Q|ZNF570_uc010xtr.1_5'UTR NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTTTTCATCAGAACCCACTGC 0.348 65 242 --- --- --- --- PASS ZNF793 390927 broad.mit.edu 37 19 38028524 38028524 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:38028524G>A uc010efm.2 + 8 1406 c.964G>A c.(964-966)GAG>AAG p.E322K ZNF793_uc010xts.1_Missense_Mutation_p.E322K|ZNF793_uc010efo.2_Intron NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN zinc finger protein 793 322 C2H2-type 4. 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) ATCGTTTGGTGAGAAGTCATA 0.468 9 65 --- --- --- --- PASS ECH1 1891 broad.mit.edu 37 19 39307163 39307163 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:39307163C>A uc002oji.2 - 7 674 c.589G>T c.(589-591)GAG>TAG p.E197* ECH1_uc002ojh.2_Nonsense_Mutation_p.E77* NM_001398 NP_001389 Q13011 ECH1_HUMAN peroxisomal enoyl-coenzyme A hydratase-like 197 Important for catalytic activity (By similarity). fatty acid beta-oxidation|generation of precursor metabolites and energy mitochondrion|peroxisome enoyl-CoA hydratase activity|isomerase activity|protein binding ovary(1) 1 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) ACGTCCACCTCCTGGGGGAGG 0.597 5 63 --- --- --- --- PASS NKPD1 284353 broad.mit.edu 37 19 45655260 45655260 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:45655260C>A uc010xxi.1 - 4 2435 c.2435G>T c.(2434-2436)GGC>GTC p.G812V NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CCATAGCTTGCCCCTGTGGGC 0.701 4 51 --- --- --- --- PASS SAE1 10055 broad.mit.edu 37 19 47700589 47700589 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:47700589A>G uc002pgc.2 + 7 889 c.833A>G c.(832-834)GAC>GGC p.D278G SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D104G|SAE1_uc002pge.2_Missense_Mutation_p.D214G NM_016402 NP_057486 Q9UBE0 SAE1_HUMAN SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA; 278 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity ovary(1) 1 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) GATGTGCTTGACTCACTGGGT 0.418 59 234 --- --- --- --- PASS C19orf76 199800 broad.mit.edu 37 19 50193365 50193365 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:50193365G>A uc002pph.2 + 2 1230 c.77G>A c.(76-78)CGA>CAA p.R26Q CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|CPT1C_uc010ybc.1_5'Flank NM_001101340 NP_001094810 C9JUS6 ADM5_HUMAN hypothetical protein LOC199800 26 extracellular region 0 CTCTCCAGGCGAGGCCAGCAC 0.637 OREG0025628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 --- --- --- --- PASS GPR32 2854 broad.mit.edu 37 19 51274865 51274865 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:51274865G>A uc010ycf.1 + 1 1008 c.1008G>A c.(1006-1008)GCG>GCA p.A336A NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 336 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGCCCTGGCGAGGGCGTTTG 0.552 21 190 --- --- --- --- PASS ZNF175 7728 broad.mit.edu 37 19 52090506 52090506 + Nonsense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:52090506G>T uc002pxb.2 + 5 1300 c.922G>T c.(922-924)GAA>TAA p.E308* NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 308 C2H2-type 2; atypical. response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AAACCTCCATGAATGTGGCAA 0.438 32 186 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53005153 53005153 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:53005153C>G uc002pzp.3 + 4 299 c.55C>G c.(55-57)CTT>GTT p.L19V NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:Variant_position_missing_in_Q96N58_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGGCATGGCTCTTCCTCAGGT 0.383 32 187 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53015037 53015037 + Nonsense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:53015037C>G uc002pzp.3 + 6 1647 c.1403C>G c.(1402-1404)TCA>TGA p.S468* NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 243 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGTCAGAAATCAAACCTTGAG 0.393 13 86 --- --- --- --- PASS CACNG7 59284 broad.mit.edu 37 19 54416138 54416138 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:54416138C>A uc002qcr.1 + 1 68 c.53C>A c.(52-54)GCG>GAG p.A18E CACNG7_uc010era.1_Missense_Mutation_p.A18E NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 18 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GTGTTTGGTGCGTGTGGCCTG 0.632 10 70 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327338 57327338 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:57327338G>T uc002qnu.2 - 7 2823 c.2472C>A c.(2470-2472)ACC>ACA p.T824T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T795T|PEG3_uc002qnv.2_Silent_p.T824T|PEG3_uc002qnw.2_Silent_p.T700T|PEG3_uc002qnx.2_Silent_p.T698T|PEG3_uc010etr.2_Silent_p.T824T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 824 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCCTTCAGAGGTGTTCCCTC 0.453 46 207 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58551845 58551845 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:58551845C>T uc002qrc.1 + 4 645 c.398C>T c.(397-399)CCC>CTC p.P133L NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 133 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCGGTCGAACCCCAGGACTGG 0.612 41 458 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58601475 58601475 + Nonsense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:58601475C>A uc002qri.2 - 2 469 c.160G>T c.(160-162)GAA>TAA p.E54* ZSCAN18_uc002qrj.3_Nonsense_Mutation_p.E54*|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Nonsense_Mutation_p.E54*|ZSCAN18_uc010yht.1_Nonsense_Mutation_p.E110*|ZSCAN18_uc002qrk.1_Nonsense_Mutation_p.E54*|ZSCAN18_uc002qrl.2_Nonsense_Mutation_p.E54* NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 54 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TAGACAAATTCCCGGAAACGC 0.677 4 101 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7886903 7886903 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:7886903C>T uc002wmw.1 - 4 643 c.619G>A c.(619-621)GCA>ACA p.A207T HAO1_uc010gbu.2_Missense_Mutation_p.A207T NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 207 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GCCACATATGCAGCAAGTCCA 0.373 58 161 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 15480442 15480442 + Missense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:15480442G>T uc002wou.2 + 8 859 c.595G>T c.(595-597)GTC>TTC p.V199F MACROD2_uc002wot.2_Missense_Mutation_p.V199F|MACROD2_uc002woz.2_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 199 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GCCTGCTGCAGTCATTGCCCT 0.438 10 68 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31590418 31590418 + Silent SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:31590418C>G uc002wyi.2 - 3 279 c.186G>C c.(184-186)CTG>CTC p.L62L NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 62 spermatogenesis skin(1) 1 TGCACTGAGTCAGGCCTAGGG 0.532 22 110 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33876708 33876708 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:33876708G>C uc010zux.1 - 2 685 c.567C>G c.(565-567)CTC>CTG p.L189L FAM83C_uc002xcb.1_Silent_p.L13L NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 189 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGGCCTCCATGAGGTCACACA 0.597 68 194 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34241396 34241396 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:34241396G>A uc002xdq.2 - 3 2081 c.1849C>T c.(1849-1851)CAT>TAT p.H617Y CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.H617Y|RBM12_uc002xds.2_Missense_Mutation_p.H617Y NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 617 nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GTAACTACATGAACAAAAGCT 0.418 79 421 --- --- --- --- PASS PLCG1 5335 broad.mit.edu 37 20 39794432 39794432 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:39794432G>C uc002xjp.1 + 16 1886 c.1765G>C c.(1765-1767)GAG>CAG p.E589Q PLCG1_uc002xjo.1_Missense_Mutation_p.E589Q|PLCG1_uc010zwe.1_Missense_Mutation_p.E215Q|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 589 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GCGAGAGAGTGAGACCTTCGT 0.582 20 132 --- --- --- --- PASS GDAP1L1 78997 broad.mit.edu 37 20 42907914 42907914 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:42907914T>C uc002xlq.2 + 6 1145 c.1078T>C c.(1078-1080)TGG>CGG p.W360R GDAP1L1_uc010zwl.1_Missense_Mutation_p.W379R|GDAP1L1_uc010zwm.1_Missense_Mutation_p.W302R|GDAP1L1_uc010zwn.1_Missense_Mutation_p.W168R NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 360 large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTTTGCCTACTGGTACCTCAA 0.562 34 190 --- --- --- --- PASS WFDC8 90199 broad.mit.edu 37 20 44180702 44180702 + Nonsense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:44180702G>C uc002xow.2 - 6 768 c.689C>G c.(688-690)TCA>TGA p.S230* WFDC8_uc002xox.2_Nonsense_Mutation_p.S230* NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 230 WAP 3. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) TCCACAATGTGAGCAGCACTT 0.413 46 201 --- --- --- --- PASS ARFGEF2 10564 broad.mit.edu 37 20 47587750 47587750 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:47587750C>T uc002xtx.3 + 10 1436 c.1284C>T c.(1282-1284)TTC>TTT p.F428F NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 428 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACGAGATGTTCATCAATGCAA 0.493 10 291 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58442822 58442822 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:58442822C>G uc002yaz.2 - 38 4208 c.4069G>C c.(4069-4071)GAG>CAG p.E1357Q NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1357 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TAAGTCATCTCTATCCCTGCA 0.303 9 44 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60895861 60895861 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:60895861G>A uc002ycq.2 - 49 6649 c.6582C>T c.(6580-6582)GGC>GGT p.G2194G NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2194 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCATTGATGCCACGCAGTT 0.657 36 91 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60905967 60905967 + Silent SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr20:60905967C>T uc002ycq.2 - 30 3751 c.3684G>A c.(3682-3684)CCG>CCA p.P1228P NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1228 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGCTGGGGCGGCTTTGGGA 0.721 4 4 --- --- --- --- PASS BTG3 10950 broad.mit.edu 37 21 18981390 18981390 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr21:18981390C>G uc002ykk.2 - 2 333 c.73G>C c.(73-75)GAG>CAG p.E25Q BTG3_uc002ykl.2_Missense_Mutation_p.E25Q NM_006806 NP_006797 Q14201 BTG3_HUMAN B-cell translocation gene 3 isoform b 25 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm 0 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) TCAACTGCCTCTTTTTTCAAC 0.358 33 176 --- --- --- --- PASS N6AMT1 29104 broad.mit.edu 37 21 30254502 30254502 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr21:30254502G>C uc002ymo.1 - 3 318 c.292C>G c.(292-294)CAA>GAA p.Q98E N6AMT1_uc002ymp.1_Missense_Mutation_p.Q98E|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 98 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 ATAACTGGTTGAATGTGAACT 0.353 29 97 --- --- --- --- PASS KRTAP21-1 337977 broad.mit.edu 37 21 32127524 32127524 + Missense_Mutation SNP T C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr21:32127524T>C uc011adi.1 - 1 173 c.173A>G c.(172-174)TAT>TGT p.Y58C NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 58 intermediate filament breast(1) 1 GCCAGagccatatccacagcc 0.219 4 209 --- --- --- --- PASS SLC5A3 6526 broad.mit.edu 37 21 35467886 35467886 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr21:35467886C>G uc002yto.2 + 2 901 c.389C>G c.(388-390)TCT>TGT p.S130C MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 130 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 GCAGCCTTGTCTCTGATTCTC 0.443 70 343 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37581181 37581181 + Silent SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr21:37581181G>T uc002yvg.2 + 5 739 c.660G>T c.(658-660)CTG>CTT p.L220L DOPEY2_uc011aeb.1_Silent_p.L220L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 220 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AGTACATGCTGGGGACCAATC 0.637 9 73 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22735507 22735507 + RNA SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:22735507C>G uc011aim.1 + 46 c.5303C>G Parts of antibodies, mostly variable regions. 0 GCTCCAACATCGGAAGTAATA 0.582 44 225 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23214155 23214155 + RNA SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:23214155C>T uc011aim.1 + 326 c.14232C>T Parts of antibodies, mostly variable regions. 0 TCCAGTCTGACGATGAGGCTG 0.582 26 96 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26694977 26694977 + Missense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:26694977G>A uc003acb.2 + 5 1346 c.1190G>A c.(1189-1191)CGC>CAC p.R397H SEZ6L_uc003acc.2_Missense_Mutation_p.R397H|SEZ6L_uc011akc.1_Missense_Mutation_p.R397H|SEZ6L_uc003acd.2_Missense_Mutation_p.R397H|SEZ6L_uc011akd.1_Missense_Mutation_p.R397H|SEZ6L_uc003ace.2_Missense_Mutation_p.R397H|SEZ6L_uc003acf.1_Missense_Mutation_p.R170H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R170H NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 397 Sushi 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 AACTTTCCCCGCCGGCCTGAC 0.587 23 70 --- --- --- --- PASS MFNG 4242 broad.mit.edu 37 22 37882168 37882168 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:37882168G>C uc003ass.1 - 1 218 c.48C>G c.(46-48)CTC>CTG p.L16L MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Silent_p.L16L|CARD10_uc003ast.1_Intron NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 16 Helical; Signal-anchor for type II membrane protein; (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) CCATGCACAGGAGGGTGAGGA 0.687 5 64 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41521907 41521907 + Missense_Mutation SNP T G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:41521907T>G uc003azl.3 + 3 1164 c.769T>G c.(769-771)TAT>GAT p.Y257D NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 257 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGGTTCACCATATACTCAGAA 0.358 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 29 153 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41565575 41565575 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:41565575A>G uc003azl.3 + 26 4636 c.4241A>G c.(4240-4242)TAT>TGT p.Y1414C NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1414 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ACTGCAGTCTATCATGAAATC 0.333 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 12 55 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51137207 51137207 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr22:51137207A>G uc003bne.1 + 13 1636 c.1636A>G c.(1636-1638)ATG>GTG p.M546V SHANK3_uc003bnf.1_Missense_Mutation_p.M1V NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 546 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GGAAGTGCAGATGAGGCAGCA 0.637 7 85 --- --- --- --- PASS ATXN3L 92552 broad.mit.edu 37 X 13337077 13337077 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:13337077C>G uc010ned.2 - 1 1442 c.977G>C c.(976-978)AGT>ACT p.S326T NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 326 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 GATGTCATCACTGAGATCACT 0.433 33 118 --- --- --- --- PASS PIR 8544 broad.mit.edu 37 X 15509309 15509309 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:15509309G>C uc004cwu.2 - 2 310 c.72C>G c.(70-72)GTC>GTG p.V24V PIR_uc004cwv.2_Silent_p.V24V|BMX_uc004cww.2_Intron NM_003662 NP_003653 O00625 PIR_HUMAN pirin 24 V -> D (in Ref. 2; CAG46621). transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity ovary(1) 1 Hepatocellular(33;0.183) TGCTTCTCCGGACCCTCGCTC 0.522 62 142 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22095795 22095795 + Missense_Mutation SNP A G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:22095795A>G uc004dah.2 + 5 841 c.638A>G c.(637-639)AAA>AGA p.K213R PHEX_uc011mjr.1_Missense_Mutation_p.K213R|PHEX_uc011mjs.1_Missense_Mutation_p.K116R NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 213 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CCTGATGACAAAGCATCCAAT 0.448 58 114 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23411489 23411489 + Silent SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:23411489G>A uc004dal.3 + 3 1862 c.1854G>A c.(1852-1854)CTG>CTA p.L618L NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 618 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 ATTCCTTTCTGAAAGCCCCTC 0.388 50 76 --- --- --- --- PASS ZNF81 347344 broad.mit.edu 37 X 47774728 47774728 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:47774728C>T uc010nhy.1 + 6 1051 c.683C>T c.(682-684)ACC>ATC p.T228I NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 228 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) CAAGTTTTTACCCAGAACTCT 0.368 20 43 --- --- --- --- PASS CLCN5 1184 broad.mit.edu 37 X 49854835 49854835 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:49854835G>C uc004dos.1 + 10 1845 c.1597G>C c.(1597-1599)GAA>CAA p.E533Q CLCN5_uc004dor.1_Missense_Mutation_p.E603Q|CLCN5_uc004doq.1_Missense_Mutation_p.E603Q|CLCN5_uc004dot.1_Missense_Mutation_p.E533Q NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 533 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TGGTGGCTTAGAATACATCGT 0.502 5 222 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54784061 54784061 + Nonsense_Mutation SNP G A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:54784061G>A uc004dtj.2 - 8 2476 c.2446C>T c.(2446-2448)CAG>TAG p.Q816* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 816 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TTGGGAACCTGAAGTGTAGAG 0.562 49 73 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67937404 67937404 + Silent SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:67937404G>C uc004dxa.2 + 5 780 c.408G>C c.(406-408)CTG>CTC p.L136L STARD8_uc004dxb.2_Silent_p.L216L|STARD8_uc004dxc.3_Silent_p.L136L NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 136 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 TTGAATCTCTGAGGCGGAAGG 0.592 28 41 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67937591 67937591 + Nonsense_Mutation SNP G T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:67937591G>T uc004dxa.2 + 5 967 c.595G>T c.(595-597)GAG>TAG p.E199* STARD8_uc004dxb.2_Nonsense_Mutation_p.E279*|STARD8_uc004dxc.3_Nonsense_Mutation_p.E199* NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 GAAGGCCTGGGAGGCCTGGCC 0.632 16 40 --- --- --- --- PASS OGT 8473 broad.mit.edu 37 X 70777517 70777517 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:70777517G>C uc004eaa.1 + 12 1814 c.1597G>C c.(1597-1599)GAT>CAT p.D533H BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.D523H|OGT_uc004eac.2_Missense_Mutation_p.D394H|OGT_uc004ead.2_Missense_Mutation_p.D152H NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 533 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) CCTGTGCTTAGATAAGGTGTG 0.269 15 31 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73069127 73069127 + RNA SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:73069127G>C uc004ebm.1 - 1 c.3462C>G NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 AATTGGGACTGAGCATTTTAA 0.453 8 30 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88008729 88008729 + Missense_Mutation SNP C A A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:88008729C>A uc004efd.3 + 3 573 c.314C>A c.(313-315)CCC>CAC p.P105H CPXCR1_uc004efc.3_Missense_Mutation_p.P105H NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 105 intracellular zinc ion binding ovary(3) 3 TCTCACAAGCCCTTAAATGAT 0.398 11 24 --- --- --- --- PASS CENPI 2491 broad.mit.edu 37 X 100382613 100382613 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:100382613C>G uc004egx.2 + 10 1303 c.1033C>G c.(1033-1035)CAA>GAA p.Q345E CENPI_uc011mrg.1_Missense_Mutation_p.Q345E|CENPI_uc004egy.2_Missense_Mutation_p.Q345E NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 345 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 AGAACAACTTCAAAGCTTCCC 0.373 41 84 --- --- --- --- PASS NXF5 55998 broad.mit.edu 37 X 101096040 101096040 + Missense_Mutation SNP C T T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:101096040C>T uc011mrk.1 - 8 788 c.428G>A c.(427-429)CGA>CAA p.R143Q NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 143 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GCAGTTTCTTCGATTCAGGAT 0.522 28 79 --- --- --- --- PASS FAM127A 8933 broad.mit.edu 37 X 134166519 134166519 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:134166519G>C uc004eyd.2 + 1 187 c.106G>C c.(106-108)GAT>CAT p.D36H uc004eye.1_RNA NM_001078171 NP_001071639 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 36 0 Acute lymphoblastic leukemia(192;0.000127) GTTTGACGGCGATACCGACCG 0.622 41 120 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135958712 135958712 + Missense_Mutation SNP C G G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:135958712C>G uc004fae.1 - 5 701 c.491G>C c.(490-492)AGA>ACA p.R164T RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.R164T|RBMX_uc011mwg.1_Missense_Mutation_p.R125T|RBMX_uc004faf.1_Missense_Mutation_p.R25T|RBMX_uc010nsf.1_Missense_Mutation_p.R125T|RBMX_uc004fag.1_Missense_Mutation_p.R36T NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 164 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AGGTGCAGATCTCTTAGGAGG 0.463 46 86 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144904016 144904016 + Missense_Mutation SNP G C C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chrX:144904016G>C uc004fcd.2 + 5 1063 c.73G>C c.(73-75)GCC>CCC p.A25P SLITRK2_uc010nsp.2_Missense_Mutation_p.A25P|SLITRK2_uc010nso.2_Missense_Mutation_p.A25P|SLITRK2_uc011mwq.1_Missense_Mutation_p.A25P|SLITRK2_uc011mwr.1_Missense_Mutation_p.A25P|SLITRK2_uc011mws.1_Missense_Mutation_p.A25P|SLITRK2_uc004fcg.2_Missense_Mutation_p.A25P|SLITRK2_uc011mwt.1_Missense_Mutation_p.A25P NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 25 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCGCAAAACTGCCAAAGACAT 0.478 22 43 --- --- --- --- PASS CDC14C 168448 broad.mit.edu 37 7 48964307 48964307 + Frame_Shift_Del DEL C - - TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr7:48964307delC uc010kyv.1 + 1 151 c.39delC c.(37-39)GACfs p.D13fs NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 GCCGCCGGGACCCCCAGGACG 0.607 94 43 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT - - rs59413596 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr11:47788664_47788669delGGTGGT uc009ylv.2 - 1 325_330 c.172_177delACCACC c.(172-177)ACCACCdel p.TT58del FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58_59 ovary(1) 1 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 5 3 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - GGC GGC rs71338073 TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr18:77623691_77623692insGGC uc010xfl.1 + 1 24_25 c.24_25insGGC c.(22-27)insGGC p.13_14insG NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 13_14 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.614 6 3 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51165815 51165815 + Frame_Shift_Del DEL C - - TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 711e9b21-bd8c-4058-a0ce-5ff4dc23b527 6877de41-4eb8-4fce-8606-f8f1a0bbedb0 g.chr19:51165815delC uc002psx.1 - 23 5912 c.5893delG c.(5893-5895)GCCfs p.A1965fs SHANK1_uc002psw.1_Frame_Shift_Del_p.A1349fs NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1965 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCCCCTGGGGCCGCAGCGGCT 0.692 9 5 --- --- --- ---