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 PRDM2 7799 broad.mit.edu 37 1 14105511 14105511 + Silent SNP A C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:14105511A>C uc001avi.2 + 8 2077 c.1221A>C c.(1219-1221)CGA>CGC p.R407R PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.R407R|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Silent_p.R164R|PRDM2_uc001avk.2_Silent_p.R206R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 407 C2H2-type 2. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACCGGCGGCGACATGAGCGGC 0.512 23 31 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150429919 150429919 + Silent SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:150429919A>T uc009wlr.2 + 8 1227 c.1026A>T c.(1024-1026)GGA>GGT p.G342G RPRD2_uc010pcc.1_Silent_p.G316G|RPRD2_uc001eup.3_Silent_p.G316G NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 342 protein binding ovary(1) 1 AGGGAATGGGAGGTGAGGAAT 0.512 108 244 --- --- --- --- PASS ILF2 3608 broad.mit.edu 37 1 153635213 153635213 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:153635213C>G uc001fcr.2 - 13 1061 c.980G>C c.(979-981)AGG>ACG p.R327T ILF2_uc010pdy.1_Missense_Mutation_p.R289T|ILF2_uc009wok.2_Missense_Mutation_p.R305T NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 327 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAGGATCTTCCTAAAGCCACC 0.478 4 220 --- --- --- --- PASS C1orf92 149499 broad.mit.edu 37 1 156897713 156897713 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:156897713C>G uc001fqm.2 + 9 1085 c.913C>G c.(913-915)CGC>GGC p.R305G C1orf92_uc001fql.2_Missense_Mutation_p.R90G NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 305 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCAGGTCCTGCGCGCCTTCGA 0.697 OREG0013892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 24 --- --- --- --- PASS PEX19 5824 broad.mit.edu 37 1 160252819 160252819 + Silent SNP G A A rs146644725 byFrequency TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:160252819G>A uc001fvs.2 - 3 288 c.261C>T c.(259-261)TTC>TTT p.F87F DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR NM_002857 NP_002848 P40855 PEX19_HUMAN peroxisomal biogenesis factor 19 isoform a 87 Necessary for PEX19 function on peroxisome biogenesis. peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane protein binding|protein N-terminus binding 0 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGCCTTCTCGAACTCCGCAG 0.567 4 144 --- --- --- --- PASS PRDX6 9588 broad.mit.edu 37 1 173454500 173454500 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:173454500G>T uc001giy.1 + 3 304 c.253G>T c.(253-255)GAT>TAT p.D85Y NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 85 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 TGTGTTTCAGGATATCAATGC 0.443 11 110 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175325553 175325553 + Missense_Mutation SNP C A A rs112059746 byFrequency TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:175325553C>A uc001gkp.1 - 14 3101 c.3020G>T c.(3019-3021)CGG>CTG p.R1007L TNR_uc009wwu.1_Missense_Mutation_p.R1007L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1007 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GTCAACAAGCCGAAATTCCTC 0.473 107 60 --- --- --- --- PASS NMNAT2 23057 broad.mit.edu 37 1 183253165 183253165 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:183253165G>A uc001gqc.1 - 7 874 c.539C>T c.(538-540)GCC>GTC p.A180V NMNAT2_uc001gqb.1_Missense_Mutation_p.A175V|NMNAT2_uc001gqd.2_Missense_Mutation_p.A75V NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 180 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 GCCCAGATTGGCATTCTCATC 0.527 37 156 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184764867 184764867 + Silent SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:184764867C>T uc001gra.2 - 14 2225 c.2031G>A c.(2029-2031)CCG>CCA p.P677P FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 677 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 AGCATGTGCCCGGGAGTCCTG 0.577 31 71 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197073677 197073677 + Silent SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:197073677T>A uc001gtu.2 - 18 4961 c.4704A>T c.(4702-4704)TCA>TCT p.S1568S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1568 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTCTCCAGTATGACTGAATAA 0.358 17 56 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222721202 222721202 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:222721202G>C uc001hnh.1 - 1 243 c.185C>G c.(184-186)TCT>TGT p.S62C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 62 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CTCATAGTCAGAGCAAAACTC 0.562 5 61 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1653341 1653341 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:1653341G>T uc002qxa.2 - 17 2275 c.2211C>A c.(2209-2211)TTC>TTA p.F737L NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 737 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACTTCTGGTGGAAGCACATGT 0.612 19 180 --- --- --- --- PASS RRM2 6241 broad.mit.edu 37 2 10267220 10267220 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:10267220G>A uc002rah.2 + 7 862 c.671G>A c.(670-672)CGT>CAT p.R224H NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 224 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) ATAGGTGAACGTGTTGTAGCC 0.423 93 153 --- --- --- --- PASS ZNF513 130557 broad.mit.edu 37 2 27601720 27601720 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:27601720G>A uc002rkk.2 - 3 613 c.413C>T c.(412-414)CCG>CTG p.P138L ZNF513_uc002rkj.2_Missense_Mutation_p.P76L NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 138 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCCCACCCGGCCCTCCTGC 0.706 4 14 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33246095 33246095 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:33246095C>T uc002ros.2 + 3 685 c.685C>T c.(685-687)CCA>TCA p.P229S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 229 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACCTCGTCACCAGTCTTTGG 0.552 108 156 --- --- --- --- PASS PIGF 5281 broad.mit.edu 37 2 46842099 46842099 + Missense_Mutation SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:46842099T>C uc002rvd.2 - 2 369 c.205A>G c.(205-207)AAA>GAA p.K69E PIGF_uc002rvc.2_Missense_Mutation_p.K69E|CRIPT_uc002rve.2_5'Flank NM_002643 NP_002634 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, 69 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GAACTTCTTTTAGAGGATGTA 0.328 32 27 --- --- --- --- PASS FOXN2 3344 broad.mit.edu 37 2 48602579 48602579 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:48602579A>G uc002rwh.1 + 7 1608 c.1293A>G c.(1291-1293)AAA>AAG p.K431K NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 431 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AACGGAAAAAATAGAAATACT 0.378 14 8 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49295406 49295406 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:49295406C>T uc002rww.2 - 2 250 c.176G>A c.(175-177)CGA>CAA p.R59Q FSHR_uc002rwx.2_Missense_Mutation_p.R59Q|FSHR_uc010fbn.2_Missense_Mutation_p.R59Q|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 59 Extracellular (Potential).|LRR 1. 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) TTGGATGACTCGAAGCTTGGT 0.418 Gonadal_Dysgenesis_46_XX 92 109 --- --- --- --- PASS KIAA1841 84542 broad.mit.edu 37 2 61333753 61333753 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:61333753G>A uc002saw.3 + 14 1870 c.1567G>A c.(1567-1569)GAG>AAG p.E523K KIAA1841_uc002sax.3_Missense_Mutation_p.E377K|KIAA1841_uc002say.2_Missense_Mutation_p.E523K NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 523 0 Epithelial(17;0.193) TGTTTTACTGGAGCCAAATAC 0.348 148 173 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74605229 74605229 + Silent SNP G A A rs72466484 TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:74605229G>A uc002skx.2 - 2 488 c.177C>T c.(175-177)GGC>GGT p.G59G DCTN1_uc002skw.1_Silent_p.G42G|DCTN1_uc010ffd.2_Silent_p.G59G|DCTN1_uc002sky.2_Silent_p.G42G NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 59 CAP-Gly. G -> S (in HMN7B; shows a modestly reduced affinity for microtubules which has been suggested to impair axonal transport; the effect is identical to that of complete loss of the CAP-Gly domain). cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CCAGAATCACGCCTACCCATT 0.537 73 76 --- --- --- --- PASS C2orf55 343990 broad.mit.edu 37 2 99438711 99438711 + Silent SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:99438711C>A uc002szf.1 - 7 2319 c.2025G>T c.(2023-2025)CCG>CCT p.P675P NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 675 0 TGTCCTCACTCGGGGCCGGCT 0.711 17 26 --- --- --- --- PASS BUB1 699 broad.mit.edu 37 2 111399373 111399373 + Missense_Mutation SNP T G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:111399373T>G uc002tgc.2 - 21 2583 c.2471A>C c.(2470-2472)AAG>ACG p.K824T BUB1_uc010yxh.1_Missense_Mutation_p.K804T|BUB1_uc010fkb.2_Missense_Mutation_p.K824T NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 824 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GTTGGCAGGCTTTTGGACCTG 0.403 66 245 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168102627 168102627 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:168102627T>A uc002udx.2 + 8 4743 c.4725T>A c.(4723-4725)GAT>GAA p.D1575E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1400E|XIRP2_uc010fpq.2_Missense_Mutation_p.D1353E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1400 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTGAAGCTGATGAAATAGGGG 0.358 18 57 --- --- --- --- PASS MIR10B 406903 broad.mit.edu 37 2 177015104 177015104 + RNA SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:177015104G>A hsa-mir-10b|MI0000267 + c.74G>A uc010zey.1_RNA|HOXD4_uc002uks.2_5'Flank 0 TCACAGATTCGATTCTAGGGG 0.478 15 41 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179528601 179528601 + Silent SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:179528601G>A uc010zfk.1 - 15 1379 c.831C>T c.(829-831)CGC>CGT p.R277R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTTTCTCTTCGCGGATAACCT 0.423 79 319 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801424 185801424 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:185801424C>A uc002uph.2 + 4 1895 c.1301C>A c.(1300-1302)TCT>TAT p.S434Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 434 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AAACACAGATCTACAGTTCTT 0.353 103 137 --- --- --- --- PASS PPIL3 53938 broad.mit.edu 37 2 201746158 201746158 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:201746158T>A uc002uwh.2 - 5 467 c.226A>T c.(226-228)AGT>TGT p.S76C PPIL3_uc002uwi.2_Missense_Mutation_p.S80C|PPIL3_uc002uwj.2_Silent_p.T44T|PPIL3_uc002uwk.2_Missense_Mutation_p.S76C NM_130906 NP_570981 Q9H2H8 PPIL3_HUMAN peptidylprolyl isomerase-like 3 isoform PPIL3b 76 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity|protein binding 0 AGATATTCACTGTATTCATCC 0.333 144 38 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209292980 209292980 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:209292980G>T uc002vdb.2 + 2 343 c.130G>T c.(130-132)GCG>TCG p.A44S PTH2R_uc010zjb.1_Missense_Mutation_p.A55S NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 44 Extracellular (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGTGCTGAAAGCGAAAGTACA 0.403 3 47 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105250904 105250904 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:105250904A>G uc003dvx.2 + 4 993 c.453A>G c.(451-453)CTA>CTG p.L151L ALCAM_uc003dvw.1_Silent_p.L151L|ALCAM_uc003dvy.2_Silent_p.L151L|ALCAM_uc011bhh.1_Silent_p.L100L|ALCAM_uc010hpp.2_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 151 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 CAGAGCAGCTAAAAAAGGTAA 0.343 109 26 --- --- --- --- PASS LRRC58 116064 broad.mit.edu 37 3 120053955 120053955 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:120053955T>A uc003edr.2 - 3 757 c.661A>T c.(661-663)AAT>TAT p.N221Y NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 221 LRR 8. 0 GBM - Glioblastoma multiforme(114;0.147) AGCAAGTTATTGTGAAGACTT 0.343 60 13 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164735558 164735558 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:164735558T>A uc003fei.2 - 30 3686 c.3624A>T c.(3622-3624)CAA>CAT p.Q1208H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1208 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTCATGGTATTGCTTTGTTG 0.313 HNSCC(35;0.089) 15 72 --- --- --- --- PASS PDCD10 11235 broad.mit.edu 37 3 167402119 167402119 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:167402119G>C uc003fex.2 - 9 1014 c.616C>G c.(616-618)CAG>GAG p.Q206E PDCD10_uc003fez.2_Missense_Mutation_p.Q206E|PDCD10_uc003fey.2_Missense_Mutation_p.Q206E NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 206 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TTGAAGGTCTGAAGTATTAAG 0.328 Familial_Cerebral_Cavernous_Angioma 9 266 --- --- --- --- PASS MIR551B 693136 broad.mit.edu 37 3 168269673 168269673 + RNA SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:168269673G>A hsa-mir-551b|MI0003575 + c.32G>A 0 GAAATCAAGCGTGGGTGAGAC 0.463 12 197 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168834261 168834261 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:168834261C>A uc003ffi.3 - 7 1104 c.835G>T c.(835-837)GCT>TCT p.A279S MECOM_uc010hwk.1_Missense_Mutation_p.A302S|MECOM_uc003ffj.3_Missense_Mutation_p.A344S|MECOM_uc011bpi.1_Missense_Mutation_p.A280S|MECOM_uc003ffn.3_Missense_Mutation_p.A279S|MECOM_uc003ffk.2_Missense_Mutation_p.A279S|MECOM_uc003ffl.2_Missense_Mutation_p.A439S|MECOM_uc011bpj.1_Missense_Mutation_p.A467S|MECOM_uc011bpk.1_Missense_Mutation_p.A269S|MECOM_uc010hwn.2_Missense_Mutation_p.A467S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 279 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AAATAGTCAGCAAGGCCCGGG 0.493 36 135 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170843789 170843789 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr3:170843789G>A uc003fhh.2 - 17 2270 c.1925C>T c.(1924-1926)CCC>CTC p.P642L TNIK_uc003fhi.2_Missense_Mutation_p.P587L|TNIK_uc003fhj.2_Missense_Mutation_p.P613L|TNIK_uc003fhk.2_Missense_Mutation_p.P642L|TNIK_uc003fhl.2_Missense_Mutation_p.P558L|TNIK_uc003fhm.2_Missense_Mutation_p.P587L|TNIK_uc003fhn.2_Missense_Mutation_p.P613L|TNIK_uc003fho.2_Missense_Mutation_p.P558L NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 642 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTCCGAGGTGGGATCTGAGTT 0.532 12 214 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96104068 96104068 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr4:96104068G>A uc003htp.1 - 14 2585 c.2431C>T c.(2431-2433)CTC>TTC p.L811F NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 811 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTGCAGTTGAGCTGGAAGATC 0.527 39 53 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113539801 113539801 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr4:113539801C>A uc003iau.2 - 6 1608 c.1397G>T c.(1396-1398)GGA>GTA p.G466V C4orf21_uc003iaw.2_Missense_Mutation_p.G466V NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTCCAGTGTTCCACATGTATT 0.338 75 18 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156651263 156651263 + Silent SNP C T T rs150400396 TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr4:156651263C>T uc003iov.2 + 11 2489 c.1953C>T c.(1951-1953)CCC>CCT p.P651P GUCY1A3_uc003iow.2_Silent_p.P651P|GUCY1A3_uc010iqd.2_Silent_p.P650P|GUCY1A3_uc003iox.2_Silent_p.P651P|GUCY1A3_uc003ioz.2_Silent_p.P416P|GUCY1A3_uc003ioy.2_Silent_p.P651P|GUCY1A3_uc010iqe.2_Silent_p.P416P|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Silent_p.P651P NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 651 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GTGAAATCCCCGGAATCTGCC 0.403 74 11 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41017993 41017993 + Missense_Mutation SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:41017993T>C uc003jmj.3 - 28 3333 c.2843A>G c.(2842-2844)CAG>CGG p.Q948R HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q503R NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 948 binding ovary(6)|central_nervous_system(2) 8 AGCAGCCGCCTGACGGATGGT 0.468 12 3 --- --- --- --- PASS TRIM23 373 broad.mit.edu 37 5 64905275 64905275 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:64905275G>A uc003jty.2 - 6 925 c.839C>T c.(838-840)ACT>ATT p.T280I TRIM23_uc003jtw.2_Missense_Mutation_p.T280I|TRIM23_uc003jtx.2_Missense_Mutation_p.T280I NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 280 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATTCTCTGCAGTCCCTGGTAC 0.299 15 17 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80515598 80515598 + Splice_Site SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:80515598G>C uc003kha.1 + 26 3621 c.3621_splice c.e26+1 p.K1207_splice RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCAGCCAAAGGTAATATTATG 0.219 11 17 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95748167 95748167 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:95748167G>C uc003kls.1 - 7 943 c.737C>G c.(736-738)ACG>AGG p.T246R PCSK1_uc010jbi.1_Missense_Mutation_p.T7R NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 246 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATAGCATCCGTCACAATGCC 0.438 19 15 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140221314 140221314 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:140221314A>G uc003lhs.2 + 1 408 c.408A>G c.(406-408)AAA>AAG p.K136K 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_uc003lhr.1_Silent_p.K136K NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 136 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGTAAAAGACCAAAAGC 0.532 42 61 --- --- --- --- PASS PCDHGB6 56100 broad.mit.edu 37 5 140788883 140788883 + Silent SNP C A A rs114361948 by1000genomes TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:140788883C>A uc003lkj.1 + 1 1114 c.1114C>A c.(1114-1116)CGG>AGG p.R372R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.R372R NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 372 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) CTTCAAAACACGGGATCTGGA 0.393 14 20 --- --- --- --- PASS SLC6A7 6534 broad.mit.edu 37 5 149584177 149584177 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:149584177C>T uc003lrr.2 + 11 1786 c.1415C>T c.(1414-1416)GCC>GTC p.A472V NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 472 Helical; Name=10; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) ACGTGCCTTGCCGTGACACGG 0.592 3 51 --- --- --- --- PASS TCOF1 6949 broad.mit.edu 37 5 149740740 149740740 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:149740740G>T uc003lry.2 + 2 238 c.130G>T c.(130-132)GTA>TTA p.V44L TCOF1_uc003lrw.2_Missense_Mutation_p.V44L|TCOF1_uc011dch.1_Missense_Mutation_p.V44L|TCOF1_uc003lrz.2_Missense_Mutation_p.V44L|TCOF1_uc003lrx.2_Missense_Mutation_p.V44L|TCOF1_uc003lsa.2_Missense_Mutation_p.V44L NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 44 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTCAGCCCGTAACCCTTCT 0.517 31 41 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156592796 156592796 + Silent SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:156592796C>A uc003lwn.2 - 1 484 c.384G>T c.(382-384)GTG>GTT p.V128V NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 128 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAGATCTTCACAAATTTCA 0.537 22 36 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156747731 156747731 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:156747731G>C uc003lwq.2 + 17 1730 c.1592G>C c.(1591-1593)TGC>TCC p.C531S CYFIP2_uc011ddn.1_Missense_Mutation_p.C505S|CYFIP2_uc011ddo.1_Missense_Mutation_p.C335S|CYFIP2_uc003lwr.2_Missense_Mutation_p.C531S|CYFIP2_uc003lws.2_Missense_Mutation_p.C531S|CYFIP2_uc003lwt.2_Missense_Mutation_p.C409S|CYFIP2_uc011ddp.1_Missense_Mutation_p.C265S NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 531 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AATGACCCATGCTTGAGAGGG 0.582 18 24 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168096991 168096991 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:168096991T>A uc003mab.2 - 35 4553 c.4133A>T c.(4132-4134)CAC>CTC p.H1378L SLIT3_uc010jjg.2_Missense_Mutation_p.H1385L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1378 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTTCCATGGTGGCATCTAGG 0.577 19 17 --- --- --- --- PASS TRIM7 81786 broad.mit.edu 37 5 180625213 180625213 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr5:180625213G>T uc003mmz.1 - 6 1061 c.994C>A c.(994-996)CTT>ATT p.L332I TRIM7_uc003mmv.1_Missense_Mutation_p.L150I|TRIM7_uc003mmw.1_Missense_Mutation_p.L124I|TRIM7_uc003mmx.1_Missense_Mutation_p.L124I|TRIM7_uc003mmy.1_Missense_Mutation_p.L124I NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 332 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TCTCCCCGAAGGTCCTCTGAG 0.522 11 16 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34838857 34838857 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr6:34838857G>C uc003oju.3 + 18 4179 c.3945G>C c.(3943-3945)ATG>ATC p.M1315I UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1315 ovary(3) 3 TAGTCCCCATGCAGATTGAGC 0.512 160 8 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49696477 49696477 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr6:49696477T>A uc003ozs.2 - 8 719 c.704A>T c.(703-705)AAG>ATG p.K235M NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 235 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCAGGAGGCCTTGCAACTGTC 0.403 195 8 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84865079 84865079 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr6:84865079C>T uc010kbp.2 - 22 3029 c.2932G>A c.(2932-2934)GGC>AGC p.G978S KIAA1009_uc003pkj.3_Missense_Mutation_p.G902S|KIAA1009_uc003pki.3_Missense_Mutation_p.G364S NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 978 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCATCTTTGCCCTCCAGATCA 0.393 28 206 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 111995783 111995783 + Missense_Mutation SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr6:111995783T>C uc003pvj.2 - 12 1664 c.1324A>G c.(1324-1326)AGG>GGG p.R442G FYN_uc003pvi.2_Missense_Mutation_p.R387G|FYN_uc003pvk.2_Missense_Mutation_p.R442G|FYN_uc003pvh.2_Missense_Mutation_p.R439G NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 442 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ATTGTGAACCTCCCGTACAGG 0.537 102 16 --- --- --- --- PASS PDE7B 27115 broad.mit.edu 37 6 136468511 136468511 + Silent SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr6:136468511T>C uc003qgp.2 + 4 492 c.189T>C c.(187-189)ATT>ATC p.I63I uc003qgq.1_Intron|PDE7B_uc003qgr.2_Silent_p.I115I NM_018945 NP_061818 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 63 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(1) 1 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) CAGGGGAGATTGGCACCAAGA 0.388 80 12 --- --- --- --- PASS FOXK1 221937 broad.mit.edu 37 7 4798980 4798980 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:4798980C>G uc003snc.1 + 7 1460 c.1450C>G c.(1450-1452)CCT>GCT p.P484A FOXK1_uc003sna.1_Missense_Mutation_p.P321A NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 484 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CATGGCCGTGCCTCCCCGACC 0.677 5 7 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31855724 31855724 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:31855724C>A uc003tcm.1 - 15 2096 c.1627G>T c.(1627-1629)GCA>TCA p.A543S PDE1C_uc003tcn.1_Missense_Mutation_p.A543S|PDE1C_uc003tco.1_Missense_Mutation_p.A603S|PDE1C_uc003tcr.2_Missense_Mutation_p.A543S|PDE1C_uc003tcs.2_Missense_Mutation_p.A543S NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 543 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TGCTCCTCTGCGGCCAGGCGA 0.502 40 79 --- --- --- --- PASS PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:56085002C>T uc003trg.2 - 5 709 c.346G>A c.(346-348)GTA>ATA p.V116I PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393 4 86 --- --- --- --- PASS CDHR3 222256 broad.mit.edu 37 7 105671280 105671280 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:105671280G>T uc003vdl.3 + 18 2455 c.2347G>T c.(2347-2349)GAT>TAT p.D783Y CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.D770Y|CDHR3_uc011klt.1_Missense_Mutation_p.D695Y|CDHR3_uc003vdn.2_3'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 783 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGAAGCCATAGATCCAGGTAA 0.408 6 40 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123142697 123142697 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:123142697C>T uc003vkn.2 - 6 1554 c.977G>A c.(976-978)GGA>GAA p.G326E IQUB_uc003vko.2_Missense_Mutation_p.G326E|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.G326E|IQUB_uc003vkq.2_3'UTR NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 326 ovary(3)|large_intestine(1) 4 AAAATACTTTCCTGGTGTTAC 0.328 23 57 --- --- --- --- PASS PRSS1 5644 broad.mit.edu 37 7 142458536 142458536 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr7:142458536G>T uc003wak.2 + 2 188 c.171G>T c.(169-171)TGG>TGT p.W57C 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_Missense_Mutation_p.G33C|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 57 Peptidase S1. 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) ACGAACAGTGGGTGGTATCAG 0.587 Hereditary_Pancreatitis 63 76 --- --- --- --- PASS RPS20 6224 broad.mit.edu 37 8 56985729 56985729 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:56985729G>C uc003xsn.2 - 4 478 c.280C>G c.(280-282)CCT>GCT p.P94A RPS20_uc003xsm.2_Missense_Mutation_p.P94A NM_001023 NP_001014 P60866 RS20_HUMAN ribosomal protein S20 isoform 2 94 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) ATCTCAGAAGGACTGTGCAAG 0.398 17 93 --- --- --- --- PASS OXR1 55074 broad.mit.edu 37 8 107719314 107719314 + Missense_Mutation SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:107719314A>G uc011lht.1 + 8 1667 c.1568A>G c.(1567-1569)CAA>CGA p.Q523R OXR1_uc003ymf.2_Missense_Mutation_p.Q522R|OXR1_uc011lhu.1_Missense_Mutation_p.Q515R|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.Q220R|OXR1_uc003ymg.1_Missense_Mutation_p.Q455R|OXR1_uc003ymi.1_Missense_Mutation_p.Q434R NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 523 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GAAAATATTCAACAAGTGTCA 0.363 24 30 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113256656 113256656 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:113256656T>A uc003ynu.2 - 65 10528 c.10369A>T c.(10369-10371)AAC>TAC p.N3457Y CSMD3_uc003yns.2_Missense_Mutation_p.N2659Y|CSMD3_uc003ynt.2_Missense_Mutation_p.N3417Y|CSMD3_uc011lhx.1_Missense_Mutation_p.N3288Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3457 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTCCAGGTGTTATCGGATCTA 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 31 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113256659 113256659 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:113256659C>G uc003ynu.2 - 65 10525 c.10366G>C c.(10366-10368)GAT>CAT p.D3456H CSMD3_uc003yns.2_Missense_Mutation_p.D2658H|CSMD3_uc003ynt.2_Missense_Mutation_p.D3416H|CSMD3_uc011lhx.1_Missense_Mutation_p.D3287H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3456 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CAGGTGTTATCGGATCTACAC 0.418 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 31 --- --- --- --- PASS WDR67 93594 broad.mit.edu 37 8 124132320 124132320 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:124132320T>A uc003ypp.1 + 11 1552 c.1462T>A c.(1462-1464)TCT>ACT p.S488T WDR67_uc011lig.1_Missense_Mutation_p.S488T|WDR67_uc011lih.1_Missense_Mutation_p.S378T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.S201T NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 488 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGCTCACTGGTCTGTCATTTT 0.294 37 26 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133844622 133844622 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr8:133844622A>G uc003ytt.2 + 15 2212 c.1887A>G c.(1885-1887)CTA>CTG p.L629L PHF20L1_uc011lja.1_Silent_p.L603L NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 629 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGGCAATTCTATCCGTTGATC 0.403 13 83 --- --- --- --- PASS FAM154A 158297 broad.mit.edu 37 9 18950777 18950777 + Missense_Mutation SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr9:18950777A>G uc003zni.1 - 2 475 c.197T>C c.(196-198)ATG>ACG p.M66T FAM154A_uc010mip.1_5'UTR NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 66 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) CAGGCCTTCCATTGGTATAGG 0.443 116 17 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37729734 37729734 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr9:37729734C>A uc004aag.1 + 8 666 c.622C>A c.(622-624)CTC>ATC p.L208I FRMPD1_uc004aah.1_Missense_Mutation_p.L208I|FRMPD1_uc011lqm.1_Missense_Mutation_p.L30I|FRMPD1_uc011lqn.1_Missense_Mutation_p.L77I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 208 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GGACATCATCCTCACCGTGAA 0.557 73 14 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118997489 118997489 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr9:118997489C>T uc004bjn.2 + 7 2686 c.2305C>T c.(2305-2307)CAC>TAC p.H769Y PAPPA_uc011lxp.1_Missense_Mutation_p.H464Y|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 769 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGTCAACCCACACACGGTTCC 0.552 94 43 --- --- --- --- PASS LCN2 3934 broad.mit.edu 37 9 130911868 130911868 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr9:130911868G>T uc004bto.1 + 1 137 c.64G>T c.(64-66)GAC>TAC p.D22Y LCN2_uc010mxq.1_Missense_Mutation_p.D22Y|LCN2_uc011map.1_Missense_Mutation_p.D22Y NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 22 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 CCAGGCCCAGGACTCCACCTC 0.637 27 70 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7682733 7682733 + Missense_Mutation SNP T G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr10:7682733T>G uc001ijq.2 - 4 464 c.385A>C c.(385-387)ACC>CCC p.T129P ITIH5_uc001ijr.1_Missense_Mutation_p.T129P NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 129 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TCTTCTGTGGTTTTATTCCTT 0.373 46 50 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26589812 26589812 + Silent SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr10:26589812C>A uc001isp.2 + 16 2183 c.1680C>A c.(1678-1680)GTC>GTA p.V560V GAD2_uc001isq.2_Silent_p.V560V NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 560 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TCCGCATGGTCATCTCAAACC 0.458 50 68 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85973973 85973973 + Missense_Mutation SNP C T T rs141706561 TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr10:85973973C>T uc001kcv.2 + 17 2176 c.2176C>T c.(2176-2178)CGC>TGC p.R726C CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430C|CDHR1_uc001kcx.2_Missense_Mutation_p.R40C NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 726 Cytoplasmic (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CACCTTCTGGCGCAACAAGAA 0.637 20 47 --- --- --- --- PASS NOLC1 9221 broad.mit.edu 37 10 103917285 103917285 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr10:103917285G>C uc001kuo.2 + 4 649 c.414G>C c.(412-414)GAG>GAC p.E138D NOLC1_uc001kup.2_Missense_Mutation_p.E138D|NOLC1_uc001kuq.2_Missense_Mutation_p.E139D|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 138 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) ATGATGATGAGGAGGACCAAA 0.493 12 18 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1262892 1262892 + Silent SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:1262892G>A uc009ycr.1 + 47 6987 c.6861G>A c.(6859-6861)CGG>CGA p.R2287R MUC5B_uc001ltb.2_Silent_p.R1597R NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1594 7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAGGATCCGGGTCCTCTGCT 0.637 10 1 --- --- --- --- PASS HBB 3043 broad.mit.edu 37 11 5247920 5247920 + Missense_Mutation SNP C A A rs36008922 TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:5247920C>A uc001mae.1 - 2 252 c.202G>T c.(202-204)GTG>TTG p.V68L NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 68 V -> D (in Bristol).|V -> A (in Sydney; unstable).|V -> M (in Alesha; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) GCACCGAGCACTTTCTTGCCA 0.552 Sickle_Cell_Trait 87 13 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8950936 8950936 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:8950936C>A uc001mhb.3 - 3 436 c.312G>T c.(310-312)AAG>AAT p.K104N C11orf16_uc001mhc.3_Missense_Mutation_p.K104N NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 104 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CGGGAGTGGCCTTTATTTGGG 0.577 3 45 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982553 57982553 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:57982553C>A uc010rkc.1 + 1 337 c.337C>A c.(337-339)CAG>AAG p.Q113K NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 113 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) CTGCATCACACAGATGTACTT 0.428 66 49 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995570 57995570 + Missense_Mutation SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:57995570A>T uc010rkd.1 - 1 778 c.778T>A c.(778-780)TGC>AGC p.C260S NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) ACGAGGCTGCAGCAGCCATAC 0.617 22 44 --- --- --- --- PASS UBXN1 51035 broad.mit.edu 37 11 62445480 62445480 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:62445480G>A uc001nul.1 - 5 533 c.401C>T c.(400-402)GCA>GTA p.A134V UBXN1_uc001nuj.2_Missense_Mutation_p.A134V|UBXN1_uc001num.1_Missense_Mutation_p.A134V|UBXN1_uc001nuk.2_Missense_Mutation_p.A99V|UBXN1_uc010rme.1_Missense_Mutation_p.A134V|UBXN1_uc010rmf.1_3'UTR NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 134 Potential.|Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 CCGCTGTCGTGCTGCTGACAA 0.617 15 58 --- --- --- --- PASS CCDC88B 283234 broad.mit.edu 37 11 64111617 64111617 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:64111617C>T uc001nzy.2 + 14 1648 c.1604C>T c.(1603-1605)CCG>CTG p.P535L CCDC88B_uc009ypo.1_Missense_Mutation_p.P532L|CCDC88B_uc001nzz.1_Missense_Mutation_p.P184L NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 535 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 TTGGCTCCCCCGGCATTAGAC 0.632 14 109 --- --- --- --- PASS KDM2A 22992 broad.mit.edu 37 11 66995566 66995566 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:66995566G>A uc001ojw.2 + 11 1880 c.1016G>A c.(1015-1017)CGC>CAC p.R339H KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R33H NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 GTGTTGGAGCGCTATGTGTAC 0.408 6 311 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74049611 74049611 + Silent SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:74049611T>C uc001ovb.1 - 13 1964 c.1668A>G c.(1666-1668)ACA>ACG p.T556T NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 556 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) GAAAAGTAAATGTAATCATTT 0.383 33 87 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76867112 76867112 + Missense_Mutation SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:76867112A>G uc001oyb.2 + 5 717 c.445A>G c.(445-447)AGC>GGC p.S149G MYO7A_uc010rsl.1_Missense_Mutation_p.S149G|MYO7A_uc010rsm.1_Missense_Mutation_p.S138G|MYO7A_uc001oyc.2_Missense_Mutation_p.S149G NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 149 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GAAACGCAACAGCCGAGACCA 0.562 30 1 --- --- --- --- PASS ZC3H12C 85463 broad.mit.edu 37 11 110036409 110036409 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:110036409G>A uc009yxw.2 + 6 2650 c.2599G>A c.(2599-2601)GCC>ACC p.A867T ZC3H12C_uc010rwc.1_Missense_Mutation_p.A868T|ZC3H12C_uc010rwd.1_Missense_Mutation_p.A868T|ZC3H12C_uc001pkr.3_Missense_Mutation_p.A836T NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 867 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CATGACAGACGCCCAGCAGCT 0.428 3 8 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117389387 117389387 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr11:117389387G>T uc001prh.1 - 7 1486 c.1484C>A c.(1483-1485)CCG>CAG p.P495Q DSCAML1_uc001pri.1_Missense_Mutation_p.P299Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 435 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGTGGGGGGCGGGGCGCCCTT 0.672 3 43 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4737325 4737325 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr12:4737325G>A uc001qnb.3 - 4 972 c.743C>T c.(742-744)TCT>TTT p.S248F NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 248 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TCCATTACGAGATTCAAACAC 0.458 73 47 --- --- --- --- PASS CSDA 8531 broad.mit.edu 37 12 10868337 10868337 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr12:10868337C>T uc001qyt.2 - 4 649 c.406G>A c.(406-408)GGA>AGA p.G136R CSDA_uc001qyu.2_Missense_Mutation_p.G136R NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 136 CSD. negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) TCTCCATCTCCTACACTGCGC 0.408 81 61 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49444814 49444814 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr12:49444814A>G uc001rta.3 - 10 2652 c.2652T>C c.(2650-2652)CCT>CCC p.P884P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 884 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCCAGGGGGAGGGAACAAGG 0.642 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 119 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112685957 112685957 + Nonsense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr12:112685957G>A uc009zwc.2 - 20 2914 c.2896C>T c.(2896-2898)CAA>TAA p.Q966* NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TGCCATTTTTGTTCCAGTTCT 0.299 24 10 --- --- --- --- PASS MCF2L 23263 broad.mit.edu 37 13 113740555 113740555 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr13:113740555G>T uc001vsu.2 + 21 2558 c.2536G>T c.(2536-2538)GGC>TGC p.G846C MCF2L_uc001vsq.2_Missense_Mutation_p.G846C|MCF2L_uc010tjr.1_Missense_Mutation_p.G789C|MCF2L_uc001vsr.2_Missense_Mutation_p.G793C|MCF2L_uc001vss.3_Missense_Mutation_p.G787C|MCF2L_uc010tjs.1_Missense_Mutation_p.G787C|MCF2L_uc001vst.1_Missense_Mutation_p.G751C NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 819 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGCTATCACCGGCTATGACGT 0.652 21 42 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483135 20483135 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr14:20483135C>A uc010tky.1 - 1 218 c.218G>T c.(217-219)TGG>TTG p.W73L NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TGAGGCCAGCCACATGTCCAG 0.478 48 34 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94053012 94053012 + Silent SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr14:94053012C>T uc001ybv.1 + 18 2426 c.2343C>T c.(2341-2343)ACC>ACT p.T781T KIAA1409_uc001ybs.1_Silent_p.T781T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 958 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TAATATATACCATTTTCCAGG 0.328 52 8 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369023 22369023 + Missense_Mutation SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:22369023A>T uc010tzu.1 + 1 448 c.448A>T c.(448-450)AGG>TGG p.R150W LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTT 0.498 47 472 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382725 22382725 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:22382725T>A uc001yuc.1 + 7 1234 c.253T>A c.(253-255)TTC>ATC p.F85I LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.F85I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTGGTGGACTTCCTCTCTGA 0.507 36 339 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28380782 28380782 + Silent SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:28380782C>T uc001zbj.2 - 79 12178 c.12072G>A c.(12070-12072)TCG>TCA p.S4024S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4024 RCC1 14. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGTGGACACCGACTCTGTCC 0.448 35 54 --- --- --- --- PASS CASC5 57082 broad.mit.edu 37 15 40917450 40917450 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:40917450G>A uc010bbs.1 + 11 5227 c.5066G>A c.(5065-5067)TGT>TAT p.C1689Y CASC5_uc010ucq.1_Missense_Mutation_p.C1513Y|CASC5_uc001zme.2_Missense_Mutation_p.C1663Y|CASC5_uc010bbt.1_Missense_Mutation_p.C1663Y NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1689 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAGAGAAATTGTAGTGTCACT 0.408 74 75 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43818760 43818760 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:43818760T>A uc001zrt.2 + 4 5556 c.5089T>A c.(5089-5091)TGG>AGG p.W1697R NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1697 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGACACATACTGGAGGGAGCT 0.582 30 34 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69327710 69327710 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:69327710G>T uc002ars.1 + 6 892 c.872G>T c.(871-873)CGC>CTC p.R291L NOX5_uc002arp.1_Missense_Mutation_p.R273L|NOX5_uc002arq.1_Missense_Mutation_p.R245L|NOX5_uc010bid.1_Missense_Mutation_p.R256L|NOX5_uc002arr.1_Missense_Mutation_p.R263L|NOX5_uc010bie.1_Missense_Mutation_p.R91L|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 291 Cytoplasmic (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 ATGCTCAGACGCTGCCTCACC 0.617 10 17 --- --- --- --- PASS AP3S2 10239 broad.mit.edu 37 15 90447114 90447114 + Missense_Mutation SNP C A A rs61731919 TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:90447114C>A uc002bos.3 - 4 558 c.403G>T c.(403-405)GAC>TAC p.D135Y C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.D135Y NM_182616 NP_872422 P59780 AP3S2_HUMAN hypothetical protein LOC348110 Error:Variant_position_missing_in_P59780_after_alignment intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) ACTGTGTGGTCGGGGGTGAGG 0.652 3 68 --- --- --- --- PASS HS3ST2 9956 broad.mit.edu 37 16 22926572 22926572 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr16:22926572C>T uc002dli.2 + 2 865 c.793C>T c.(793-795)CCG>TCG p.P265S HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 265 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) GCAGTACTTCCCGCTAGCTCA 0.607 45 66 --- --- --- --- PASS SULT1A2 6799 broad.mit.edu 37 16 28604868 28604868 + Missense_Mutation SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr16:28604868C>T uc002dqg.1 - 5 745 c.394G>A c.(394-396)GCA>ACA p.A132T uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.A132T NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 132 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 ACATCCTTTGCGTTGCGGGCA 0.552 4 72 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28990770 28990770 + Missense_Mutation SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr16:28990770G>A uc010vdi.1 + 6 781 c.641G>A c.(640-642)GGA>GAA p.G214E uc010vct.1_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.G214E|SPNS1_uc002drx.2_Missense_Mutation_p.G141E|SPNS1_uc002dsa.2_Missense_Mutation_p.G214E|SPNS1_uc002drz.2_Missense_Mutation_p.G214E|SPNS1_uc010byp.2_Missense_Mutation_p.G192E|SPNS1_uc010byq.1_Missense_Mutation_p.G141E NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 214 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 GATATGGCTGGAGACTGGCAC 0.592 21 28 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46952534 46952534 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr16:46952534T>A uc002eel.2 + 8 996 c.902T>A c.(901-903)GTG>GAG p.V301E GPT2_uc002eem.2_Missense_Mutation_p.V201E NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 301 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCCCGCAGGTGTACCAGGAC 0.612 75 62 --- --- --- --- PASS PITPNM3 83394 broad.mit.edu 37 17 6428755 6428755 + Silent SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:6428755G>A uc002gdd.3 - 3 298 c.147C>T c.(145-147)ATC>ATT p.I49I PITPNM3_uc010cln.2_Intron NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 49 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TCCCAATGAGGATGGCATTCT 0.537 203 16 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578370 7578370 + Splice_Site SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:7578370C>A uc002gim.2 - 5 753 c.559_splice c.e5+1 p.G187_splice TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Splice_Site_p.G148_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) CAGCTGCTCACCATCGCTATC 0.632 111 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) 85 9 --- --- --- --- PASS MFSD6L 162387 broad.mit.edu 37 17 8701182 8701182 + Silent SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:8701182C>A uc002glp.1 - 1 1405 c.1257G>T c.(1255-1257)CCG>CCT p.P419P NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 419 Helical; (Potential). integral to membrane central_nervous_system(1) 1 TAGCTTTGAACGGATGAAGCA 0.572 137 156 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11701032 11701032 + Missense_Mutation SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:11701032T>C uc002gne.2 + 43 8410 c.8342T>C c.(8341-8343)CTG>CCG p.L2781P DNAH9_uc010coo.2_Missense_Mutation_p.L2075P NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2781 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCCAGACTCTGGTGGAGGCC 0.498 28 98 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319683 21319683 + Silent SNP G A A rs111482429 byFrequency TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:21319683G>A uc002gyv.1 + 3 1734 c.1029G>A c.(1027-1029)TCG>TCA p.S343S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 343 Cytoplasmic (By similarity). S -> L (in Ref. 2; AAC50615). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity p.S343L(2) ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TTGACTACTCGCACTTCCACA 0.582 Prostate(3;0.18) 53 249 --- --- --- --- PASS HSD17B1 3292 broad.mit.edu 37 17 40706825 40706825 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:40706825G>C uc002hzw.2 + 6 1824 c.856G>C c.(856-858)GGC>CGC p.G286R HSD17B1_uc002hzx.2_Missense_Mutation_p.G287R|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'Flank|HSD17B1_uc010cyi.2_Missense_Mutation_p.G317R NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 286 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GGAAGTGTTCGGCGACGTTCC 0.537 6 46 --- --- --- --- PASS ATXN7L3 56970 broad.mit.edu 37 17 42271707 42271707 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:42271707C>A uc002iga.2 - 12 1059 c.968G>T c.(967-969)GGC>GTC p.G323V ATXN7L3_uc010wiv.1_Missense_Mutation_p.G105V|ATXN7L3_uc002ifz.2_Missense_Mutation_p.G330V NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 323 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GGAACCTAGGCCGGAGGCAGT 0.522 70 62 --- --- --- --- PASS HLF 3131 broad.mit.edu 37 17 53398125 53398125 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:53398125C>G uc002iug.1 + 4 1298 c.773C>G c.(772-774)TCG>TGG p.S258W HLF_uc010dce.1_Missense_Mutation_p.S173W|HLF_uc002iuh.2_Missense_Mutation_p.S173W|HLF_uc010wni.1_Missense_Mutation_p.S205W NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 258 Leucine-zipper. multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 ATCCGGGCCTCGTTCCTGGAG 0.592 T TCF3 ALL 6 38 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73736517 73736517 + Missense_Mutation SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:73736517A>T uc002jpg.2 + 21 2712 c.2525A>T c.(2524-2526)CAG>CTG p.Q842L ITGB4_uc002jph.2_Missense_Mutation_p.Q842L|ITGB4_uc010dgo.2_Missense_Mutation_p.Q842L|ITGB4_uc002jpi.3_Missense_Mutation_p.Q842L|ITGB4_uc010dgp.1_Missense_Mutation_p.Q842L|ITGB4_uc002jpj.2_Missense_Mutation_p.Q842L NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 842 Cytoplasmic (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) GAGTGCGCCCAGCTGCGCCAG 0.657 56 30 --- --- --- --- PASS AATK 9625 broad.mit.edu 37 17 79095665 79095665 + Missense_Mutation SNP G T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:79095665G>T uc010dia.2 - 11 2151 c.2071C>A c.(2071-2073)CGC>AGC p.R691S AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 691 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TCTGGACAGCGGCTGCCGCTG 0.716 4 20 --- --- --- --- PASS EMILIN2 84034 broad.mit.edu 37 18 2892173 2892173 + Nonsense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr18:2892173C>A uc002kln.2 + 4 2207 c.2048C>A c.(2047-2049)TCG>TAG p.S683* NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 683 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CAGGTCATCTCGGAGCTGGAT 0.602 41 157 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5395708 5395708 + Splice_Site SNP T G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr18:5395708T>G uc002kmt.1 - 20 3060 c.2974_splice c.e20-1 p.V992_splice EPB41L3_uc010wzh.1_Splice_Site_p.V823_splice|EPB41L3_uc002kmu.1_Splice_Site_p.V770_splice|EPB41L3_uc010dkq.1_Splice_Site_p.V661_splice|EPB41L3_uc002kms.1_Splice_Site_p.V227_splice|EPB41L3_uc010wze.1_Splice_Site_p.V297_splice|EPB41L3_uc010wzf.1_Splice_Site_p.V289_splice|EPB41L3_uc010wzg.1_Splice_Site_p.V264_splice|EPB41L3_uc010dkr.2_Splice_Site_p.V384_splice NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGGATCGACCTAAAGCAGCAG 0.498 54 203 --- --- --- --- PASS CD226 10666 broad.mit.edu 37 18 67531632 67531632 + Missense_Mutation SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr18:67531632G>C uc010dqo.2 - 6 1376 c.929C>G c.(928-930)ACC>AGC p.T310S CD226_uc002lkm.3_Missense_Mutation_p.T310S NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 310 Cytoplasmic (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) GGATTGATTGGTAGGTTGACT 0.388 28 11 --- --- --- --- PASS FSD1 79187 broad.mit.edu 37 19 4310281 4310281 + Missense_Mutation SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr19:4310281A>T uc002lzy.2 + 5 510 c.357A>T c.(355-357)CAA>CAT p.Q119H FSD1_uc010xie.1_Missense_Mutation_p.Q106H|FSD1_uc010xif.1_Missense_Mutation_p.N103Y|FSD1_uc002lzz.2_Missense_Mutation_p.Q119H|FSD1_uc002maa.2_5'Flank NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 119 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCCAAGCAAATCAAAGATG 0.398 139 31 --- --- --- --- PASS APLP1 333 broad.mit.edu 37 19 36369793 36369793 + Missense_Mutation SNP T A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr19:36369793T>A uc002oce.2 + 15 1787 c.1649T>A c.(1648-1650)GTG>GAG p.V550E APLP1_uc010xsz.1_Missense_Mutation_p.V511E|APLP1_uc002ocf.2_Missense_Mutation_p.V551E|APLP1_uc002ocg.2_Missense_Mutation_p.V454E|APLP1_uc010xta.1_Missense_Mutation_p.V544E NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 550 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCCCCAGGTGAATGCGTCT 0.512 55 53 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41633927 41633927 + Silent SNP A G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr19:41633927A>G uc002opu.1 + 10 1472 c.1416A>G c.(1414-1416)CCA>CCG p.P472P CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 472 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 ACCTGACCCCACTCAGCTCAG 0.652 5 35 --- --- --- --- PASS C20orf27 54976 broad.mit.edu 37 20 3734752 3734752 + Nonsense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr20:3734752C>A uc002wji.1 - 6 707 c.478G>T c.(478-480)GAG>TAG p.E160* C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Nonsense_Mutation_p.E185* NM_001039140 NP_001034229 Q9GZN8 CT027_HUMAN hypothetical protein LOC54976 160 0 TATTCCAGCTCGGCGCCCACA 0.682 11 7 --- --- --- --- PASS NPTXR 23467 broad.mit.edu 37 22 39224455 39224455 + Silent SNP G A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr22:39224455G>A uc003awk.2 - 2 841 c.687C>T c.(685-687)ACC>ACT p.T229T NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 229 Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) AGTGTAGGCCGGTGGGCACAG 0.647 6 8 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157145 26157145 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:26157145C>A uc004dbq.1 + 2 230 c.43C>A c.(43-45)CGC>AGC p.R15S NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 15 protein binding central_nervous_system(1) 1 CCGTGAGAAACGCCACCAGGC 0.532 8 6 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157185 26157185 + Missense_Mutation SNP C A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:26157185C>A uc004dbq.1 + 2 270 c.83C>A c.(82-84)ACG>AAG p.T28K NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 28 protein binding central_nervous_system(1) 1 CTGGGAGCTACGCAGGCCACT 0.552 12 4 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32662275 32662275 + Missense_Mutation SNP C G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:32662275C>G uc004dda.1 - 11 1549 c.1305G>C c.(1303-1305)AGG>AGC p.R435S DMD_uc004dcz.2_Missense_Mutation_p.R312S|DMD_uc004dcy.1_Missense_Mutation_p.R431S|DMD_uc004ddb.1_Missense_Mutation_p.R427S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R427S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 435 Spectrin 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCTAGCTACCCTGAGGCATT 0.353 40 6 --- --- --- --- PASS MED14 9282 broad.mit.edu 37 X 40562733 40562733 + Silent SNP T C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:40562733T>C uc004dex.3 - 11 1514 c.1374A>G c.(1372-1374)TTA>TTG p.L458L NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 458 Interaction with STAT2. 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 breast(2)|kidney(1)|skin(1) 4 TTCCAGAATGTAAATCTACAA 0.333 30 5 --- --- --- --- PASS APEX2 27301 broad.mit.edu 37 X 55033379 55033379 + Silent SNP G C C TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:55033379G>C uc004dtz.2 + 6 1144 c.1068G>C c.(1066-1068)ACG>ACC p.T356T APEX2_uc011mom.1_Silent_p.T185T NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 356 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 AGCAGTCGACGCTGCAGCACA 0.567 Other_BER_factors 21 4 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73071409 73071409 + RNA SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:73071409C>T uc004ebm.1 - 1 c.1180G>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 AGCCCTGCACCTTAGTCTTTC 0.453 36 38 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927282 92927282 + Nonsense_Mutation SNP G T T rs139021145 byFrequency TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:92927282G>T uc004efq.2 - 1 1327 c.1022C>A c.(1021-1023)TCG>TAG p.S341* FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 341 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GCTAACATCCGACAAGAACTT 0.428 38 5 --- --- --- --- PASS NOX1 27035 broad.mit.edu 37 X 100117172 100117172 + Silent SNP C T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:100117172C>T uc004egj.2 - 7 998 c.792G>A c.(790-792)GGG>GGA p.G264G uc010nnf.2_Intron|NOX1_uc004egl.3_Silent_p.G264G|NOX1_uc010nne.2_Silent_p.G227G NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 264 Ferric oxidoreductase.|Extracellular (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 CAGGGGGATGCCCTTCAAACT 0.413 100 6 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100604918 100604918 + Missense_Mutation SNP T G G TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:100604918T>G uc004ehg.2 - 19 2128 c.1935A>C c.(1933-1935)AAA>AAC p.K645N TIMM8A_uc004ehd.2_5'Flank|TIMM8A_uc011mri.1_5'Flank|BTK_uc004ehf.2_Missense_Mutation_p.K145N|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.K121N|BTK_uc010nnm.2_Missense_Mutation_p.K204N|BTK_uc010nnn.2_Missense_Mutation_p.K469N|BTK_uc010nno.2_Missense_Mutation_p.K679N NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 645 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TCAGAAGAATTTTGAAAGTGG 0.403 Agammaglobulinemia_X-linked 130 13 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195615 111195615 + Missense_Mutation SNP A T T TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chrX:111195615A>T uc004epl.1 - 2 953 c.34T>A c.(34-36)TCA>ACA p.S12T TRPC5_uc004epm.1_Missense_Mutation_p.S12T NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 12 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CTGTACGGTGAGTAGTTGACC 0.488 39 3 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614957 247614957 + Frame_Shift_Del DEL A - - TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr1:247614957delA uc010pyx.1 - 1 328 c.328delT c.(328-330)TGGfs p.W110fs NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CATCCCAGCCAGTGGAAGACT 0.597 45 62 --- --- --- --- MEMO1 51072 broad.mit.edu 37 2 32168371 32168371 + Frame_Shift_Del DEL G - - TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:32168371delG uc002rnx.2 - 2 525 c.143delC c.(142-144)CCCfs p.P48fs MEMO1_uc010ymu.1_Frame_Shift_Del_p.P48fs|MEMO1_uc010ezq.2_Frame_Shift_Del_p.P48fs|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 isoform 1 48 regulation of microtubule-based process cytosol|nucleus ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) aaaGACTTACGGGGCAATAAT 0.239 143 88 --- --- --- --- CRIM1 51232 broad.mit.edu 37 2 36726430 36726435 + In_Frame_Del DEL GACTGC - - TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr2:36726430_36726435delGACTGC uc002rpd.2 + 8 1480_1485 c.1441_1446delGACTGC c.(1441-1446)GACTGCdel p.DC481del NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 481_482 Antistasin-like 1.|Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GACAGGGAAGGACTGCATTAATGGTT 0.403 93 45 --- --- --- --- C15orf55 256646 broad.mit.edu 37 15 34646003 34646003 + Frame_Shift_Del DEL C - - TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr15:34646003delC uc001zif.2 + 4 1076 c.921delC c.(919-921)GGCfs p.G307fs C15orf55_uc010ucc.1_Frame_Shift_Del_p.G335fs|C15orf55_uc010ucd.1_Frame_Shift_Del_p.G325fs NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 307 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GGTCTCAGGGCCTGTCTCCTG 0.542 T BRD3|BRD4 lethal midline carcinoma 66 69 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - A A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 7483ea9f-8587-41e7-9ae5-d9223b76f33e a5e025df-7d3e-4143-8f12-763b4bacba25 g.chr17:26653806_26653807insA uc002hat.2 + 3 663_664 c.518_519insA c.(517-519)AGAfs p.R173fs NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 Cytoplasmic (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 53 26 --- --- --- ---