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 pox qox isArtifactMode oxoGCut CDC20 991 broad.mit.edu 37 1 43825057 43825057 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:43825057C>T uc001cix.2 + 2 272 c.171C>T c.(169-171)GGC>GGT p.G57G CDC20_uc001ciy.2_Silent_p.G57G NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 57 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGACTCCGGGCCGAACTCCTG 0.662 NA 20 10 0 0 0 0 RAD54L 8438 broad.mit.edu 37 1 46739822 46739822 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:46739822C>T uc009vye.2 + 16 1737 c.1623C>T c.(1621-1623)GTC>GTT p.V541V RAD54L_uc001cpl.2_Silent_p.V541V|RAD54L_uc001cpm.1_Silent_p.V324V NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 541 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) ACTTATACGTCCGCCTGGATG 0.423 NA Direct_reversal_of_damage|Homologous_recombination 12 15 0 0 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583599 47583599 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:47583599T>C uc001cqu.1 + 12 1514 c.1511T>C c.(1510-1512)GTT>GCT p.V504A NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 504 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 GCAAAAAAAGTTTGCTAATTT 0.378 NA 13 12 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75072415 75072415 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:75072415T>A uc001dgg.2 - 10 1578 c.1359A>T c.(1357-1359)TCA>TCT p.S453S uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S247S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 453 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AAAATTTGGCTGAAACAGAGG 0.413 NA 93 48 0 0 0 0 CLCA4 22802 broad.mit.edu 37 1 87043754 87043754 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:87043754C>T uc009wcs.2 + 12 2165 c.2121C>T c.(2119-2121)AAC>AAT p.N707N CLCA4_uc009wct.2_Silent_p.N470N|CLCA4_uc009wcu.2_Silent_p.N527N NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 707 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GGGTAGTGAACGGTGAGTAAC 0.388 NA 3 7 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 98164954 98164954 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:98164954G>A uc001drv.2 - 6 770 c.633C>T c.(631-633)TAC>TAT p.Y211Y DPYD_uc010oub.1_RNA NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 211 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGATGTCAGAGTACCCCAATC 0.383 NA 72 40 0 0 0 0 S1PR1 1901 broad.mit.edu 37 1 101705292 101705292 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:101705292C>T uc001dud.2 + 2 1266 c.752C>T c.(751-753)TCG>TTG p.S251L S1PR1_uc009weg.2_Missense_Mutation_p.S251L NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 251 Cytoplasmic (By similarity). KSL -> NV (in Ref. 1; AAA52336 and 2; AAC51905). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 TCTGAGAAGTCGCTGGCGCTG 0.582 NA 51 49 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152187703 152187703 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:152187703T>C uc001ezt.1 - 3 6478 c.6402A>G c.(6400-6402)GGA>GGG p.G2134G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2134 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCGTGTTGTCCGTAGCCAG 0.567 NA 22 631 0 0 0 0 KIRREL 55243 broad.mit.edu 37 1 158064599 158064599 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:158064599C>T uc001frn.3 + 15 2367 c.1963C>T c.(1963-1965)CGG>TGG p.R655W KIRREL_uc010pib.1_Missense_Mutation_p.R555W|KIRREL_uc009wsq.2_Missense_Mutation_p.R491W|KIRREL_uc001fro.3_Missense_Mutation_p.R469W|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 655 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CACCTATAGCCGGGGCCCTGC 0.657 NA 13 29 0 0 0 0 ALDH9A1 223 broad.mit.edu 37 1 165667675 165667675 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:165667675C>T uc001gdh.1 - 1 226 c.121G>A c.(121-123)GGG>AGG p.G41R uc001gdi.2_5'Flank|ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Missense_Mutation_p.G41R|ALDH9A1_uc010pla.1_5'UTR NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 17 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) ACGCGGGCCCCGCCGCGGTAA 0.706 NA 14 24 0 0 0 0 FMO3 2328 broad.mit.edu 37 1 171085379 171085379 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:171085379G>A uc001ghi.2 + 8 1326 c.1215G>A c.(1213-1215)ATG>ATA p.M405I FMO3_uc001ghh.2_Missense_Mutation_p.M405I|FMO3_uc010pmb.1_Missense_Mutation_p.M385I|FMO3_uc010pmc.1_Missense_Mutation_p.M342I NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 405 PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284). xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGAAGACATGATGAATGATA 0.358 NA 31 53 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760576 176760576 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:176760576C>A uc001gkz.2 + 19 6142 c.4978C>A c.(4978-4980)CTG>ATG p.L1660M PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1660 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCCTCAGAGCTGAATTCTGT 0.438 NA 25 27 1.43e-11 1.65e-11 1 0 USH2A 7399 broad.mit.edu 37 1 215848787 215848787 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:215848787C>T uc001hku.1 - 63 12853 c.12466G>A c.(12466-12468)GAC>AAC p.D4156N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4156 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGCTGAGAGTCTGGAGGGGCT 0.542 NA HNSCC(13;0.011) 3 62 0 0 0 0 AKT3 10000 broad.mit.edu 37 1 243778440 243778440 + Silent SNP A A C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:243778440A>C uc001iab.1 - 6 666 c.585T>G c.(583-585)ACT>ACG p.T195T AKT3_uc001hzz.1_Silent_p.T195T NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 195 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CTCTGCTTTCAGTTAGAGTGT 0.294 NA 19 43 0 0 0 0 AHCTF1 25909 broad.mit.edu 37 1 247051786 247051786 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:247051786A>G uc001ibu.1 - 17 2185 c.2178T>C c.(2176-2178)GAT>GAC p.D726D AHCTF1_uc001ibv.1_Silent_p.D735D|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 726 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAACCAGTCCATCAATCATCA 0.408 NA 32 26 0 0 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14961768 14961768 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr10:14961768C>A uc001inn.2 - 13 1210 c.1125G>T c.(1123-1125)CTG>CTT p.L375L DCLRE1C_uc010qbx.1_Silent_p.L375L|DCLRE1C_uc001ink.2_Silent_p.L28L|DCLRE1C_uc001inl.2_Silent_p.L255L|DCLRE1C_uc009xji.2_Silent_p.L260L|DCLRE1C_uc001inm.2_Silent_p.L255L|DCLRE1C_uc001ino.2_Silent_p.L260L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L255L|DCLRE1C_uc001inq.2_Silent_p.L255L|DCLRE1C_uc001inr.2_Silent_p.L260L NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 375 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 TAGCTCTCTTCAGTTTTCCCA 0.458 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 38 81 3.62e-18 4.32e-18 1 0 GRID1 2894 broad.mit.edu 37 10 87966319 87966319 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr10:87966319C>T uc001kdl.1 - 3 423 c.322G>A c.(322-324)GCC>ACC p.A108T GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 108 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATGTGCATGGCATCCGTGAGG 0.607 NA Multiple Myeloma(13;0.14) 14 30 0 0 0 0 C10orf12 26148 broad.mit.edu 37 10 98743204 98743204 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr10:98743204A>G uc001kmv.2 + 1 2164 c.2057A>G c.(2056-2058)AAC>AGC p.N686S NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 686 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAGGTAGACAACGAAAACACC 0.502 NA 19 20 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123954555 123954555 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr10:123954555G>A uc001lfv.2 + 8 6195 c.5835G>A c.(5833-5835)AGG>AGA p.R1945R TACC2_uc001lfw.2_Silent_p.R91R|TACC2_uc009xzx.2_Silent_p.R1900R|TACC2_uc010qtv.1_Silent_p.R1949R|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.M23I|TACC2_uc001lga.2_Missense_Mutation_p.M23I|TACC2_uc009xzy.2_Missense_Mutation_p.M23I|TACC2_uc010qtw.1_Silent_p.R40R NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1945 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTCTCATCAGGAGTTCCGATT 0.617 NA 38 96 0 0 0 0 OAT 4942 broad.mit.edu 37 10 126100543 126100543 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr10:126100543T>C uc001lhp.2 - 2 305 c.198A>G c.(196-198)AAA>AAG p.K66K OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Intron NM_000274 NP_000265 P04181 OAT_HUMAN ornithine aminotransferase precursor 66 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding 0 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) GAAACGTACCTTTTCCTCTCT 0.363 NA 3 92 0 0 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530480 5530480 + Silent SNP T T G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:5530480T>G uc001may.1 - 2 395 c.309A>C c.(307-309)CCA>CCC p.P103P HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 103 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAGGCAGCTGGGCACTCAT 0.597 NA 11 29 0 0 0 0 SBF2 81846 broad.mit.edu 37 11 9878164 9878164 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:9878164A>T uc001mib.2 - 19 2342 c.2204T>A c.(2203-2205)CTA>CAA p.L735Q SBF2_uc001mif.3_Missense_Mutation_p.L491Q|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 735 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) ATGTTGCACTAGCTCTTGCTG 0.483 NA 59 161 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17496473 17496473 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:17496473C>T uc001mnc.2 - 2 376 c.250G>A c.(250-252)GTC>ATC p.V84I ABCC8_uc010rcy.1_Missense_Mutation_p.V84I NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 84 Helical; Name=2; (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CACACCAGGACGAAGAGCAGC 0.547 NA 11 20 0 0 0 0 ELF5 2001 broad.mit.edu 37 11 34502384 34502384 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:34502384T>A uc001mvo.1 - 6 866 c.636A>T c.(634-636)GCA>GCT p.A212A ELF5_uc001mvp.1_Silent_p.A202A|ELF5_uc009ykd.1_Silent_p.A107A NM_198381 NP_938195 Q9UKW6 ELF5_HUMAN E74-like factor 5 ESE-2a 212 ETS. cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) CCCACATCTTTGCCAGGGCTT 0.418 NA 52 64 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137317 40137317 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:40137317G>T uc001mxa.1 - 2 2490 c.526C>A c.(526-528)CGA>AGA p.R176R LRRC4C_uc001mxc.1_Silent_p.R172R|LRRC4C_uc001mxd.1_Silent_p.R172R|LRRC4C_uc001mxb.1_Silent_p.R172R NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 176 LRR 5. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGTCTAGTCGGCGCAAAGAA 0.423 NA 32 38 6.01e-18 7.13e-18 1 0 FOLH1 2346 broad.mit.edu 37 11 49207301 49207301 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:49207301G>A uc001ngy.2 - 6 1007 c.746C>T c.(745-747)CCT>CTT p.P249L FOLH1_uc001ngz.2_Missense_Mutation_p.P249L|FOLH1_uc009yly.2_Missense_Mutation_p.P234L|FOLH1_uc009ylz.2_Missense_Mutation_p.P234L|FOLH1_uc009yma.2_Intron NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 249 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACCACCTCCAGGAAGATTCCA 0.512 NA 12 35 0 0 0 0 OR4A16 81327 broad.mit.edu 37 11 55111275 55111275 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:55111275A>G uc010rie.1 + 1 599 c.599A>G c.(598-600)AAT>AGT p.N200S NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GTGGTTGCCAATGGTGGAATA 0.423 NA 58 60 0 0 0 0 CCDC88B 283234 broad.mit.edu 37 11 64116884 64116884 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:64116884C>T uc001nzy.2 + 15 2742 c.2698C>T c.(2698-2700)CTC>TTC p.L900F CCDC88B_uc009ypo.1_Missense_Mutation_p.L897F|CCDC88B_uc001nzz.1_Missense_Mutation_p.L549F|CCDC88B_uc001oaa.2_Missense_Mutation_p.L52F NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 900 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 GCAGGCGGCTCTCGAGCGCCA 0.507 NA 4 23 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66466927 66466927 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:66466927G>T uc001ojd.2 - 17 3798 c.3726C>A c.(3724-3726)GGC>GGA p.G1242G NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1242 Spectrin 9. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CGTGGATGTTGCCTTCAGATA 0.557 NA 23 50 3.08e-08 3.47e-08 1 0 ME3 10873 broad.mit.edu 37 11 86198421 86198421 + Missense_Mutation SNP T T G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:86198421T>G uc001pbz.2 - 6 1021 c.767A>C c.(766-768)TAC>TCC p.Y256S ME3_uc001pca.2_Missense_Mutation_p.Y256S|ME3_uc009yvk.2_Missense_Mutation_p.Y256S|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 256 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CAAGTCATCGTATGCCTTCCC 0.527 NA 11 39 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92087366 92087366 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:92087366A>G uc001pdj.3 + 1 2105 c.2088A>G c.(2086-2088)CTA>CTG p.L696L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 696 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGAGAAACTACTCATTAAGG 0.388 NA TCGA Ovarian(4;0.039) 19 44 0 0 0 0 ATM 472 broad.mit.edu 37 11 108115564 108115564 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:108115564A>G uc001pkb.1 + 7 1097 c.712A>G c.(712-714)ATC>GTC p.I238V ATM_uc009yxr.1_Missense_Mutation_p.I238V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 238 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGCTCTTACTATCTTCCTCAA 0.393 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 28 65 0 0 0 0 ATM 472 broad.mit.edu 37 11 108143284 108143284 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:108143284A>G uc001pkb.1 + 21 3488 c.3103A>G c.(3103-3105)ATA>GTA p.I1035V ATM_uc009yxr.1_Missense_Mutation_p.I1035V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1035 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGGAAATATATATTCTCTGT 0.308 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 10 25 0 0 0 0 C11orf53 341032 broad.mit.edu 37 11 111155057 111155057 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:111155057G>A uc001plc.2 + 3 411 c.264G>A c.(262-264)CCG>CCA p.P88P NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 88 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCCTACCGCCGCTCCTGCCAC 0.662 NA 7 19 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122848579 122848579 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr11:122848579G>A uc010rzs.1 - 3 480 c.480C>T c.(478-480)AAC>AAT p.N160N NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 160 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) TCATCCGCCGGTTCTGGAACC 0.527 NA 17 26 0 0 0 0 ITPR2 3709 broad.mit.edu 37 12 26812177 26812177 + Missense_Mutation SNP A A C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:26812177A>C uc001rhg.2 - 16 2172 c.1755T>G c.(1753-1755)ATT>ATG p.I585M NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 585 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TATCATAGCCAATCTGGGACT 0.368 NA 11 139 0 0 0 0 ARNTL2 56938 broad.mit.edu 37 12 27533231 27533231 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:27533231G>A uc001rht.1 + 5 396 c.378G>A c.(376-378)CTG>CTA p.L126L ARNTL2_uc001rhw.2_Silent_p.L89L|ARNTL2_uc010sjp.1_Silent_p.L89L|ARNTL2_uc001rhu.1_Silent_p.L112L|ARNTL2_uc009zji.1_Silent_p.L92L|ARNTL2_uc001rhv.1_Silent_p.L78L NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 126 Helix-loop-helix motif. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) TGAATAACCTGATTGAAGAAC 0.418 NA 17 132 0 0 0 0 CNTN1 1272 broad.mit.edu 37 12 41302265 41302265 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:41302265G>T uc001rmm.1 + 2 144 c.31G>T c.(31-33)GTG>TTG p.V11L CNTN1_uc009zjy.1_Missense_Mutation_p.V11L|CNTN1_uc001rmn.1_Missense_Mutation_p.V11L|CNTN1_uc001rmo.2_Missense_Mutation_p.V11L NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 11 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGTCATCTTGTGATAATATC 0.299 NA 26 21 1.56e-20 1.87e-20 1 0 PRPF40B 25766 broad.mit.edu 37 12 50027756 50027756 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:50027756C>T uc001rur.1 + 9 691 c.627C>T c.(625-627)ACC>ACT p.T209T PRPF40B_uc001rup.1_Silent_p.T231T|PRPF40B_uc001ruq.1_Silent_p.T203T|PRPF40B_uc001rus.1_Silent_p.T152T NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 209 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CTGGCCCCACCCCAGTGCCCA 0.642 NA 51 20 0 0 0 0 RASSF9 9182 broad.mit.edu 37 12 86198764 86198764 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:86198764C>G uc001taf.1 - 2 1363 c.1024G>C c.(1024-1026)GAG>CAG p.E342Q NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 342 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TATTTAATCTCTTTCTGGATG 0.373 NA 104 68 0 0 0 0 APAF1 317 broad.mit.edu 37 12 99060113 99060113 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:99060113A>G uc001tfz.2 + 9 1917 c.1340A>G c.(1339-1341)GAG>GGG p.E447G APAF1_uc001tfy.2_Missense_Mutation_p.E436G|APAF1_uc001tga.2_Missense_Mutation_p.E436G|APAF1_uc001tgb.2_Missense_Mutation_p.E447G|APAF1_uc001tgc.2_Intron NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 447 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TTTCTTACAGAGAAGAATTGC 0.254 NA 28 30 0 0 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603574 101603574 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:101603574A>T uc001thz.3 - 1 443 c.53T>A c.(52-54)TTC>TAC p.F18Y NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 18 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 CATGCCCGCGAACACCACGTA 0.692 NA 16 8 0 0 0 0 DDX55 57696 broad.mit.edu 37 12 124104214 124104214 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr12:124104214G>A uc001ufi.2 + 13 1593 c.1569G>A c.(1567-1569)AAG>AAA p.K523K DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.K376K|DDX55_uc001ufl.2_Silent_p.K130K NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 523 Lys-rich. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) cttggtcaaagcagaaggcca 0.144 NA 7 15 0 0 0 0 CDK8 1024 broad.mit.edu 37 13 26967636 26967636 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr13:26967636G>T uc001uqr.1 + 7 805 c.779G>T c.(778-780)GGA>GTA p.G260V CDK8_uc001uqs.1_Missense_Mutation_p.G260V|CDK8_uc001uqt.1_Missense_Mutation_p.G87V NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 260 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AATGTAATGGGATTTCCTGCA 0.353 NA 69 52 5.94e-25 7.16e-25 1 0 RB1 5925 broad.mit.edu 37 13 48951101 48951101 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr13:48951101T>C uc001vcb.2 + 13 1429 c.1263T>C c.(1261-1263)GAT>GAC p.D421D RB1_uc010act.1_Silent_p.D122D NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 421 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGTGAAGGATATAGGATACA 0.358 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 28 16 0 0 0 0 MLNR 2862 broad.mit.edu 37 13 49795353 49795353 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr13:49795353C>T uc010tgj.1 + 1 880 c.880C>T c.(880-882)CGG>TGG p.R294W NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 294 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) GAGAGGCCACCGGCAGACCGT 0.736 NA 3 2 0 0 0 0 RBM26 64062 broad.mit.edu 37 13 79945213 79945213 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr13:79945213G>A uc001vkz.2 - 5 515 c.501C>T c.(499-501)GAC>GAT p.D167D RBM26_uc001vky.2_Silent_p.D167D|RBM26_uc001vla.2_Silent_p.D167D|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 167 Arg-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TATTGTACCGGTCTCTGTATG 0.453 NA 49 32 0 0 0 0 ERCC5 2073 broad.mit.edu 37 13 103513864 103513864 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr13:103513864A>T uc001vpw.2 + 7 1123 c.680A>T c.(679-681)GAT>GTT p.D227V ERCC5_uc001vpu.1_Missense_Mutation_p.D681V|ERCC5_uc010tjb.1_Missense_Mutation_p.D227V|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D59V NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 227 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TAGGAGTCTGATGACTTTTCA 0.338 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 36 21 0 0 0 0 RNF31 55072 broad.mit.edu 37 14 24624491 24624491 + Silent SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:24624491C>G uc001wmn.1 + 12 2505 c.2256C>G c.(2254-2256)CTC>CTG p.L752L RNF31_uc001wml.1_Silent_p.L601L|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Silent_p.L511L|RNF31_uc001wmo.1_Silent_p.L219L|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 752 CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GCCCCGACCTCACCGATGACA 0.577 NA 40 33 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31581699 31581699 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:31581699T>C uc001wrc.1 - 35 6690 c.6201A>G c.(6199-6201)TTA>TTG p.L2067L HECTD1_uc001wra.1_Silent_p.L193L|HECTD1_uc001wrb.1_Silent_p.L193L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2067 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATTTGCTGGTTAATTGTTCAC 0.373 NA 16 33 0 0 0 0 C14orf104 55172 broad.mit.edu 37 14 50101425 50101425 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:50101425G>T uc001wws.3 - 1 524 c.443C>A c.(442-444)CCA>CAA p.P148Q SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.P148Q NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 148 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) AAGCGCGTCTGGATGGAAGAC 0.706 NA Kartagener_syndrome 8 20 2.53e-12 2.94e-12 1 0 TBPL2 387332 broad.mit.edu 37 14 55903569 55903569 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:55903569A>G uc001xby.2 - 2 318 c.318T>C c.(316-318)GTT>GTC p.V106V NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 106 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 TTTCCTGGGTAACTTCATCTG 0.423 NA 30 33 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64679605 64679605 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:64679605A>G uc001xgm.2 + 105 19168 c.18938A>G c.(18937-18939)AAG>AGG p.K6313R SYNE2_uc001xgl.2_Missense_Mutation_p.K6313R|SYNE2_uc010apy.2_Missense_Mutation_p.K2698R|SYNE2_uc001xgn.2_Missense_Mutation_p.K1275R|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.K283R|SYNE2_uc001xgq.2_Missense_Mutation_p.K678R|SYNE2_uc001xgr.2_Missense_Mutation_p.K96R|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6313 Spectrin 8.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGATTCAGAAGAGCGAGCCC 0.522 NA 48 39 0 0 0 0 ACOT2 10965 broad.mit.edu 37 14 74036297 74036297 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:74036297C>T uc001xon.3 + 1 526 c.353C>T c.(352-354)ACT>ATT p.T118I ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 118 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CGCGCCGACACTCTTGGCGAG 0.741 NA 17 16 0 0 0 0 OTUB2 78990 broad.mit.edu 37 14 94510931 94510931 + Splice_Site SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr14:94510931G>A uc001yci.2 + 5 464 c.304_splice c.e5-1 p.F102_splice NM_023112 NP_075601 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity 0 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) GGCGGGCGCAGTTTTACAGTG 0.622 NA 12 26 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34016286 34016286 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr15:34016286A>T uc001zhi.2 + 45 6891 c.6821A>T c.(6820-6822)GAG>GTG p.E2274V RYR3_uc010bar.2_Missense_Mutation_p.E2274V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2274 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GACGATGAAGAGGAAGAAGAA 0.502 NA 16 10 0 0 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081808 53081808 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr15:53081808C>T uc002aci.1 - 1 402 c.274G>A c.(274-276)GAG>AAG p.E92K NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 92 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) GGGGGAGTCTCGCAGGCCATG 0.657 NA 27 13 0 0 0 0 PRTG 283659 broad.mit.edu 37 15 55965703 55965703 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr15:55965703G>A uc002adg.2 - 10 1766 c.1718C>T c.(1717-1719)ACG>ATG p.T573M PRTG_uc002adh.2_Missense_Mutation_p.T75M NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 573 Fibronectin type-III 2. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GTACTCATGCGTGGTCCCCGG 0.537 NA 39 20 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81585276 81585276 + Silent SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr15:81585276A>T uc002bgh.3 + 12 2176 c.1800A>T c.(1798-1800)CCA>CCT p.P600P IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P642P|IL16_uc002bgg.2_Silent_p.P600P|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.P94P|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 600 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CCAAGCCTCCACCCAGAAAAT 0.547 NA 9 11 0 0 0 0 RPUSD1 113000 broad.mit.edu 37 16 836037 836037 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr16:836037T>A uc002cka.2 - 5 1086 c.852A>T c.(850-852)CCA>CCT p.P284P RPUSD1_uc002ckb.2_Silent_p.P284P|RPUSD1_uc002ckc.2_Silent_p.P155P|RPUSD1_uc002ckd.2_3'UTR|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 284 Pro-rich. pseudouridine synthesis pseudouridine synthase activity|RNA binding 0 Hepatocellular(780;0.00335) TGGTTGGGGGTGGAGGAGGCC 0.731 NA 3 6 0 0 0 0 SLC12A3 6559 broad.mit.edu 37 16 56914084 56914084 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr16:56914084G>A uc010ccm.2 + 12 1515 c.1486G>A c.(1486-1488)GGC>AGC p.G496S SLC12A3_uc002ekd.3_Missense_Mutation_p.G496S|SLC12A3_uc010ccn.2_Missense_Mutation_p.G495S NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 496 Cytoplasmic (Potential). G -> C (in GS). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CGGCTTCTTCGGCAAAGGCTA 0.612 NA 5 8 0 0 0 0 HP 3240 broad.mit.edu 37 16 72094648 72094648 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr16:72094648C>T uc002fbr.3 + 7 1124 c.1080C>T c.(1078-1080)GCC>GCT p.A360A TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.A301A|HP_uc002fbt.3_Silent_p.A301A|HP_uc002fbu.1_Silent_p.A98A|HP_uc002fbv.3_Silent_p.A271A|HP_uc002fbw.3_Silent_p.A182A|HP_uc002fbx.3_Silent_p.A182A|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 360 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GTGCCTTTGCCGTTCACGACC 0.522 NA 20 69 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577144 7577144 + Missense_Mutation SNP A A C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:7577144A>C uc002gim.2 - 8 988 c.794T>G c.(793-795)CTG>CGG p.L265R TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.L265R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L133R|TP53_uc010cng.1_Missense_Mutation_p.L133R|TP53_uc002gii.1_Missense_Mutation_p.L133R|TP53_uc010cnh.1_Missense_Mutation_p.L265R|TP53_uc010cni.1_Missense_Mutation_p.L265R|TP53_uc002gij.2_Missense_Mutation_p.L265R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 265 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> M (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L265P(14)|p.0?(7)|p.L265M(4)|p.L265R(3)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.L265Q(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265fs*81(1)|p.G262fs*2(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) GTTCCGTCCCAGTAGATTACC 0.522 111 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) 15 8 0 0 0 0 PIK3R5 23533 broad.mit.edu 37 17 8812417 8812417 + Nonsense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:8812417C>A uc002glt.2 - 3 245 c.178G>T c.(178-180)GAG>TAG p.E60* PIK3R5_uc010vuz.1_Nonsense_Mutation_p.E60*|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Nonsense_Mutation_p.E60*|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 60 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AGGATCTGCTCAAGGAGGATA 0.592 NA 4 5 5.94e-07 6.57e-07 1 0 MYH8 4626 broad.mit.edu 37 17 10304048 10304048 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:10304048G>T uc002gmm.2 - 27 3489 c.3394C>A c.(3394-3396)CGA>AGA p.R1132R uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1132 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R1132R(1) skin(6)|ovary(3)|breast(2) 11 GCTTTGGCTCGGGACGCCCTC 0.557 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 6 51 0.00198382 0.00209976 1 0 MYH4 4622 broad.mit.edu 37 17 10360801 10360801 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:10360801C>A uc002gmn.2 - 16 1944 c.1833G>T c.(1831-1833)CTG>CTT p.L611L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 611 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ACTTCTGGTACAGCCCCACCA 0.507 NA 25 33 1.18e-14 1.39e-14 1 0 TEKT3 64518 broad.mit.edu 37 17 15231309 15231309 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:15231309C>A uc002gon.2 - 4 850 c.663G>T c.(661-663)ACG>ACT p.T221T NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 221 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CCACATTTACCGTCAGCAGTT 0.388 NA 127 72 3.47e-60 4.21e-60 1 0 TRIM16 10626 broad.mit.edu 37 17 15532098 15532098 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:15532098T>C uc002gox.2 - 9 2083 c.1526A>G c.(1525-1527)TAT>TGT p.Y509C TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.Y293C|TRIM16_uc002goy.2_Missense_Mutation_p.Y379C NM_006470 NP_006461 O95361 TRI16_HUMAN tripartite motif-containing 16 509 B30.2/SPRY. histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) CTCTACGCCATAGAAGGAAAG 0.517 NA 27 158 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33338994 33338994 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:33338994C>T uc002hin.1 - 7 1258 c.1085G>A c.(1084-1086)CGG>CAG p.R362Q RFFL_uc002hiq.2_Missense_Mutation_p.R271Q|RFFL_uc002him.1_Missense_Mutation_p.R354Q|RFFL_uc010cti.1_Missense_Mutation_p.R368Q|RFFL_uc002hip.1_Missense_Mutation_p.R326Q|RFFL_uc002hio.1_Missense_Mutation_p.R362Q NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 362 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTCTCAGGACCGGAAGACATG 0.547 NA 8 24 0 0 0 0 KCNH4 23415 broad.mit.edu 37 17 40322268 40322268 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:40322268G>A uc002hzb.2 - 8 1580 c.1247C>T c.(1246-1248)TCG>TTG p.S416L NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 416 Extracellular (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCCGCCCACCGAGCCATTGAC 0.632 NA 9 8 0 0 0 0 NGFR 4804 broad.mit.edu 37 17 47590198 47590198 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:47590198G>A uc002ioz.3 + 6 1236 c.1111G>A c.(1111-1113)GAG>AAG p.E371K NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 371 Cytoplasmic (Potential).|Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CTACCAGCCCGAGCACATAGA 0.697 NA 31 64 0 0 0 0 C17orf71 55181 broad.mit.edu 37 17 57292263 57292263 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:57292263C>G uc002ixi.2 + 4 2918 c.2876C>G c.(2875-2877)GCA>GGA p.A959G NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 959 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TTTCCTTATGCATATGTGACT 0.473 NA 32 48 0 0 0 0 AXIN2 8313 broad.mit.edu 37 17 63532996 63532996 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:63532996T>A uc002jfi.2 - 7 2187 c.1898A>T c.(1897-1899)AAG>ATG p.K633M AXIN2_uc002jfh.2_Intron NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 633 Missing (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 CCTATGGGGCTTGGGCTTGCT 0.652 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 37 107 0 0 0 0 ITGB4 3691 broad.mit.edu 37 17 73751849 73751849 + Silent SNP A A C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:73751849A>C uc002jpg.2 + 35 4813 c.4626A>C c.(4624-4626)ACA>ACC p.T1542T ITGB4_uc002jph.2_Silent_p.T1472T|ITGB4_uc002jpi.3_Silent_p.T1472T|ITGB4_uc002jpj.2_Silent_p.T1525T|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1542 Cytoplasmic (Potential).|Fibronectin type-III 3. 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) TGGGGCCCACATCTCTCAGAG 0.677 NA 10 44 0 0 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76967771 76967771 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:76967771C>T uc002jwh.2 - 6 1824 c.1645G>A c.(1645-1647)GAC>AAC p.D549N LGALS3BP_uc002jwi.2_Missense_Mutation_p.D355N|LGALS3BP_uc010dhr.2_Missense_Mutation_p.D355N NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein 549 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CTGTTGGTGTCCAGGGCACTG 0.607 NA OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 56 0 0 0 0 DTNA 1837 broad.mit.edu 37 18 32428278 32428278 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr18:32428278C>A uc010dmn.1 + 13 1285 c.1284C>A c.(1282-1284)AAC>AAA p.N428K DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.N371K|DTNA_uc002kxw.2_Missense_Mutation_p.N371K|DTNA_uc010dmj.2_Missense_Mutation_p.N368K|DTNA_uc002kxz.2_Missense_Mutation_p.N368K|DTNA_uc002kxy.2_Missense_Mutation_p.N368K|DTNA_uc010dml.2_Missense_Mutation_p.N368K|DTNA_uc002kyb.3_Missense_Mutation_p.N425K|DTNA_uc010dmm.2_Missense_Mutation_p.N428K|DTNA_uc010xby.1_Missense_Mutation_p.N118K|DTNA_uc010dmo.2_Missense_Mutation_p.N50K|DTNA_uc002kyd.3_Missense_Mutation_p.N50K|DTNA_uc010xbz.1_Missense_Mutation_p.N137K|DTNA_uc010xca.1_Missense_Mutation_p.N80K|DTNA_uc002kye.2_Missense_Mutation_p.N76K NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 428 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 AGAGTTCAAACCGGCTTGATG 0.448 NA 19 14 4.35e-09 4.91e-09 1 0 ADAMTSL5 339366 broad.mit.edu 37 19 1506029 1506029 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:1506029C>T uc002ltd.2 - 12 1845 c.1401G>A c.(1399-1401)CGG>CGA p.R467R ADAMTSL5_uc010dsl.2_Silent_p.R236R|ADAMTSL5_uc010xgq.1_Silent_p.R477R NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 467 NTR. proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACAGCGCCGGGCAGTCA 0.672 NA 9 6 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9058238 9058238 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:9058238C>A uc002mkp.2 - 3 29412 c.29208G>T c.(29206-29208)ACG>ACT p.T9736T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9738 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAAGTGAGGTCGTGAGAGGTA 0.502 NA 15 23 0.00244969 0.00258168 1 0 OR7D4 125958 broad.mit.edu 37 19 9324922 9324922 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:9324922C>A uc002mla.1 - 1 592 c.592G>T c.(592-594)GTC>TTC p.V198F NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 ACATACAAGACAATGTTATTG 0.522 NA 14 85 6.32e-08 7.08e-08 1 0 SLC44A2 57153 broad.mit.edu 37 19 10738659 10738659 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:10738659G>A uc002mpf.2 + 4 363 c.224G>A c.(223-225)GGG>GAG p.G75E SLC44A2_uc002mpe.3_Missense_Mutation_p.G73E NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN solute carrier family 44, member 2 isoform 1 75 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity ovary(1) 1 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GAGTTCTGCGGGCAGAAGGGC 0.572 NA 12 12 0 0 0 0 ZNF799 90576 broad.mit.edu 37 19 12501389 12501389 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:12501389T>A uc010dyt.2 - 4 1973 c.1823A>T c.(1822-1824)AAG>ATG p.K608M ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 608 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 CCAGTGAGTCTTTTTATGTCT 0.403 NA 54 96 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17740103 17740103 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:17740103T>A uc002nhd.2 - 31 3963 c.3963A>T c.(3961-3963)GCA>GCT p.A1321A NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1233 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 AGATGATGTCTGCATACTGGA 0.577 NA 8 15 0 0 0 0 ZNF93 81931 broad.mit.edu 37 19 20044894 20044894 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:20044894C>T uc002non.2 + 4 1241 c.1130C>T c.(1129-1131)GCC>GTC p.A377V NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 377 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 TGTGGCAAAGCCTTCATTTGG 0.393 NA 26 42 0 0 0 0 ZNF829 374899 broad.mit.edu 37 19 37398928 37398928 + Splice_Site SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:37398928T>C uc002ofa.1 - 5 586 c.224_splice c.e5-1 p.G75_splice ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGAAAGTCCTGTTCACAAGA 0.468 NA 9 33 0 0 0 0 ZNF420 147923 broad.mit.edu 37 19 37618477 37618477 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:37618477A>G uc002ofl.2 + 5 799 c.584A>G c.(583-585)TAT>TGT p.Y195C NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 195 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGAAACCCTATGCATGTAAG 0.388 NA 13 37 0 0 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103266 39103266 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:39103266T>A uc002oix.1 - 9 758 c.650A>T c.(649-651)GAT>GTT p.D217V MAP4K1_uc002oiy.1_Missense_Mutation_p.D217V|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 217 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGGTGCACATCAAAGAGCGG 0.627 NA 22 31 0 0 0 0 ZNF180 7733 broad.mit.edu 37 19 44981291 44981291 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:44981291T>A uc002ozf.3 - 5 1689 c.1407A>T c.(1405-1407)CAA>CAT p.Q469H ZNF180_uc002ozh.3_Missense_Mutation_p.Q126H|ZNF180_uc002ozi.3_Missense_Mutation_p.Q442H|ZNF180_uc002ozg.3_Missense_Mutation_p.Q468H|ZNF180_uc010ejm.2_Missense_Mutation_p.Q444H NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 469 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) ATTTCCCACATTGATTACATT 0.368 NA 21 62 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54396287 54396287 + Silent SNP G G A rs139506301 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:54396287G>A uc002qcq.1 + 8 1149 c.867G>A c.(865-867)CCG>CCA p.P289P PRKCG_uc010eqz.1_Silent_p.P289P|PRKCG_uc010yef.1_Intron|PRKCG_uc010yeg.1_Silent_p.P289P|PRKCG_uc010yeh.1_Silent_p.P176P NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 289 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACAATGTGCCGGTGGCCGATG 0.607 NA 4 23 0 0 0 0 ZNF71 58491 broad.mit.edu 37 19 57133988 57133988 + Nonsense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:57133988A>T uc002qnm.3 + 3 1571 c.1333A>T c.(1333-1335)AAG>TAG p.K445* NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 445 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCAGTGCGGGAAGTCCTTCAT 0.647 NA 17 24 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24521568 24521568 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:24521568T>C uc002rfe.2 - 13 1718 c.1460A>G c.(1459-1461)AAA>AGA p.K487R ITSN2_uc002rff.2_Missense_Mutation_p.K487R|ITSN2_uc002rfg.2_Missense_Mutation_p.K487R|ITSN2_uc010eyd.2_Missense_Mutation_p.K512R NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 487 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCTTCTTTTTAGAGTTTAA 0.373 NA 30 74 0 0 0 0 EMILIN1 11117 broad.mit.edu 37 2 27303763 27303763 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:27303763C>T uc002rii.3 + 3 882 c.454C>T c.(454-456)CGC>TGC p.R152C EMILIN1_uc010eyq.1_Missense_Mutation_p.R152C|EMILIN1_uc002rik.3_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 152 cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGCCTGCCCGCCCCAACCT 0.667 NA OREG0014513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 10 0 0 0 0 IFT172 26160 broad.mit.edu 37 2 27706461 27706461 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:27706461C>T uc002rku.2 - 6 519 c.468G>A c.(466-468)GTG>GTA p.V156V IFT172_uc002rkw.2_Silent_p.V156V|IFT172_uc010yls.1_Silent_p.V135V|IFT172_uc010ezc.2_Silent_p.V156V|IFT172_uc002rkv.2_Silent_p.V156V NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 156 WD 4. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TTGTCAGGGACACCACGTAAG 0.403 NA 13 41 0 0 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092865 29092865 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:29092865C>T uc002rmm.2 - 1 311 c.279G>A c.(277-279)CTG>CTA p.L93L TRMT61B_uc002rmn.2_Silent_p.L93L|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 93 tRNA (adenine-N1-)-methyltransferase activity 0 ACTCTTCCCGCAGCGTCGGCA 0.612 NA 15 36 0 0 0 0 CIAO1 9391 broad.mit.edu 37 2 96933414 96933414 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:96933414G>A uc002svs.2 + 3 545 c.340G>A c.(340-342)GCC>ACC p.A114T TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 114 WD 3. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 AGTGGCTTGGGCCCCATCTGG 0.537 NA 4 14 0 0 0 0 SLC9A4 389015 broad.mit.edu 37 2 103125363 103125363 + Nonsense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:103125363G>T uc002tbz.3 + 6 1916 c.1459G>T c.(1459-1461)GAA>TAA p.E487* NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 487 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CAATAAAAAAGAATCCATCAA 0.353 NA 18 57 3.99e-14 4.68e-14 1 0 NCK2 8440 broad.mit.edu 37 2 106497977 106497977 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:106497977C>T uc002tdg.2 + 4 862 c.420C>T c.(418-420)GTC>GTT p.V140V NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.V140V NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 140 SH3 2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GCGTCACCGTCATGGAGAAGT 0.632 NA 39 49 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141272305 141272306 + Missense_Mutation DNP GC GC AA TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:141272305_141272306GC>AA uc002tvj.1 - 51 9157_9158 c.8185_8186GC>TT c.(8185-8187)GCA>TTA p.A2729L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2729 Extracellular (Potential).|LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACATTTTTGTGCGGAACAAGCA 0.342 NA TSP Lung(27;0.18) 11 37 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152398013 152398013 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:152398013G>T uc010fnx.2 - 108 15718 c.15527C>A c.(15526-15528)CCT>CAT p.P5176H NEB_uc002txr.2_Missense_Mutation_p.P1599H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5176 Nebulin 141. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGAGTATCAGGAACTGAAGT 0.473 NA 19 81 7.21e-19 8.63e-19 1 0 RBMS1 5937 broad.mit.edu 37 2 161223852 161223852 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:161223852G>T uc002ubo.2 - 2 570 c.126C>A c.(124-126)ACC>ACA p.T42T RBMS1_uc002ubj.2_Silent_p.T9T|RBMS1_uc002ubk.2_Silent_p.T9T|RBMS1_uc002ubl.2_Silent_p.T40T|RBMS1_uc002ubn.2_Silent_p.T42T|RBMS1_uc002ubi.3_Silent_p.T42T|RBMS1_uc002ubm.2_Silent_p.T9T|RBMS1_uc002ubp.2_Silent_p.T42T|RBMS1_uc010fox.2_Silent_p.T42T NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 42 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 tattactgctggtggtgctgG 0.448 NA 14 44 1.05e-09 1.2e-09 1 0 TTC21B 79809 broad.mit.edu 37 2 166770094 166770094 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:166770094T>C uc002udk.2 - 16 2334 c.2201A>G c.(2200-2202)AAT>AGT p.N734S NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 734 TPR 9. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 CTCTAGAATATTCATGTATGC 0.313 NA 16 51 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179587395 179587395 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:179587395T>C uc010zfg.1 - 73 18723 c.18499A>G c.(18499-18501)AGA>GGA p.R6167G TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2828G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7094 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) CCTTGAATTCTGAACACAGTC 0.323 NA 4 21 0 0 0 0 CCDC141 285025 broad.mit.edu 37 2 179736188 179736188 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:179736188C>T uc002unf.1 - 4 503 c.446G>A c.(445-447)CGA>CAA p.R149Q NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 149 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCATTTTTGTCGTAGATCTAA 0.393 NA 33 162 0 0 0 0 SESTD1 91404 broad.mit.edu 37 2 180036936 180036936 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:180036936G>A uc002uni.3 - 5 430 c.280C>T c.(280-282)CTT>TTT p.L94F NM_178123 NP_835224 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 94 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) ACACAAACAAGGGACACCTCA 0.308 NA 20 58 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212251875 212251875 + Missense_Mutation SNP T T G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr2:212251875T>G uc002veg.1 - 27 3282 c.3184A>C c.(3184-3186)AAC>CAC p.N1062H ERBB4_uc002veh.1_Missense_Mutation_p.N1046H|ERBB4_uc010zji.1_Missense_Mutation_p.N1052H|ERBB4_uc010zjj.1_Missense_Mutation_p.N1036H NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1062 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACAAACTGGTTCTGTTAATAA 0.423 NA TSP Lung(8;0.080) 31 70 0 0 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673192 3673192 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:3673192G>A uc002wja.2 - 15 4006 c.4006C>T c.(4006-4008)CGT>TGT p.R1336C SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.R1336C NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1336 Ig-like C2-type 13.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GCAGCAGGACGGGAGCTGCGG 0.682 NA 5 14 0 0 0 0 C20orf103 24141 broad.mit.edu 37 20 9498787 9498787 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:9498787T>C uc002wni.1 + 5 805 c.576T>C c.(574-576)TCT>TCC p.S192S C20orf103_uc010zrc.1_Silent_p.S148S NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 192 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) CACTGGCCTCTAGTGATCCGC 0.512 NA 16 34 0 0 0 0 FOXA2 3170 broad.mit.edu 37 20 22563619 22563619 + Silent SNP G G C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:22563619G>C uc002wsn.2 - 3 433 c.243C>G c.(241-243)TCC>TCG p.S81S FOXA2_uc002wsm.2_Silent_p.S87S NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 81 Transactivation domain 1 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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 ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) CCGCGCCGGGGGACATCCCCG 0.766 NA 19 37 0 0 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967483 31967483 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:31967483C>T uc010gek.2 - 9 1057 c.933G>A c.(931-933)GTG>GTA p.V311V CDK5RAP1_uc002wyy.2_Silent_p.V207V|CDK5RAP1_uc002wyz.2_Silent_p.V297V|CDK5RAP1_uc002wza.2_Silent_p.V297V|CDK5RAP1_uc010gel.2_Silent_p.V206V|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.V297V NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 311 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 CAAGAAGTGTCACTTCTTTCA 0.368 NA 8 58 0 0 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967498 31967498 + Splice_Site SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:31967498C>G uc010gek.2 - 9 1043 c.919_splice c.e9-1 p.G307_splice CDK5RAP1_uc002wyy.2_Splice_Site_p.G203_splice|CDK5RAP1_uc002wyz.2_Splice_Site_p.G293_splice|CDK5RAP1_uc002wza.2_Splice_Site_p.G293_splice|CDK5RAP1_uc010gel.2_Splice_Site_p.G202_splice|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Splice_Site_p.G293_splice NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 CTTTCAGCCCCTAAACATGGG 0.343 NA 7 51 0 0 0 0 GDF5 8200 broad.mit.edu 37 20 34021968 34021968 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:34021968G>A uc010gfc.1 - 2 1486 c.1245C>T c.(1243-1245)GAC>GAT p.D415D uc002xcj.2_Missense_Mutation_p.V127I|GDF5_uc002xck.1_Silent_p.D415D|GDF5_uc010zvc.1_Silent_p.D415D NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 415 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TGATCCAGTCGTCCCAGCCCA 0.607 NA 128 58 0 0 0 0 ZBTB46 140685 broad.mit.edu 37 20 62378483 62378483 + Missense_Mutation SNP G G C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr20:62378483G>C uc002ygv.1 - 5 1771 c.1570C>G c.(1570-1572)CCA>GCA p.P524A ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) AGCGCCTCTGGAGAGCCCTCG 0.736 NA 5 13 0 0 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812926 31812926 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr21:31812926C>T uc002yod.2 + 1 281 c.281C>T c.(280-282)TCC>TTC p.S94F NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 94 intermediate filament 0 TACATAAGATCCCTTGGATGT 0.502 NA 12 86 0 0 0 0 POFUT2 23275 broad.mit.edu 37 21 46685544 46685544 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr21:46685544A>G uc002zhc.2 - 9 1168 c.1143T>C c.(1141-1143)TTT>TTC p.F381F POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_3'UTR NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 381 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) AGGTGCCAATAAAAAACCTGC 0.498 NA 12 13 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26317306 26317306 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:26317306T>C uc003abz.1 + 34 5697 c.5447T>C c.(5446-5448)CTC>CCC p.L1816P MYO18B_uc003aca.1_Missense_Mutation_p.L1697P|MYO18B_uc010guy.1_Missense_Mutation_p.L1698P|MYO18B_uc010guz.1_Missense_Mutation_p.L1696P|MYO18B_uc011aka.1_Missense_Mutation_p.L970P|MYO18B_uc011akb.1_Missense_Mutation_p.L1329P NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1816 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GACGTGCAGCTCCTTCTGGGC 0.552 NA 6 1 0 0 0 0 TPST2 8459 broad.mit.edu 37 22 26937142 26937142 + Missense_Mutation SNP G G C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:26937142G>C uc003acv.2 - 2 623 c.455C>G c.(454-456)GCC>GGC p.A152G TPST2_uc003acw.2_Missense_Mutation_p.A152G|TPST2_uc003acx.2_Missense_Mutation_p.A152G|TPST2_uc011akf.1_Missense_Mutation_p.A152G NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 152 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 GAGCACGCGGGCCGGCTCTCC 0.637 NA 26 47 0 0 0 0 KREMEN1 83999 broad.mit.edu 37 22 29490261 29490261 + Missense_Mutation SNP A A G rs35199515 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:29490261A>G uc011akm.1 + 2 126 c.113A>G c.(112-114)AAT>AGT p.N38S KREMEN1_uc003ael.2_Missense_Mutation_p.N38S|KREMEN1_uc011akn.1_5'UTR NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 36 Extracellular (Potential).|Kringle. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 TTCACAGCCAATGGTGCGGAT 0.428 NA 36 56 0 0 0 0 SMCR7L 54471 broad.mit.edu 37 22 39908272 39908272 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:39908272A>T uc003axx.2 + 5 856 c.358A>T c.(358-360)AGG>TGG p.R120W SMCR7L_uc003axw.2_Missense_Mutation_p.R120W|SMCR7L_uc010gxz.1_Intron|SMCR7L_uc003axy.2_Intron NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 120 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) GCCAGTGGCCAGGAAGGGCCA 0.597 NA 24 32 0 0 0 0 CACNA1I 8911 broad.mit.edu 37 22 40060149 40060149 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:40060149C>T uc003ayc.2 + 20 3651 c.3651C>T c.(3649-3651)GGC>GGT p.G1217G CACNA1I_uc003ayd.2_Silent_p.G1182G|CACNA1I_uc003aye.2_Silent_p.G1132G|CACNA1I_uc003ayf.2_Silent_p.G1097G NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1217 Helical; Name=S2 of repeat III; (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCTTCGTGGGCGAGATGACAT 0.612 NA 6 19 0 0 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41753426 41753426 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr22:41753426G>T uc003azw.2 + 23 3143 c.2927G>T c.(2926-2928)GGG>GTG p.G976V ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 992 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 GCCACCACTGGGGAGTAGGGC 0.662 NA 40 75 1.47e-25 1.78e-25 1 0 MRPS25 64432 broad.mit.edu 37 3 15100956 15100956 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:15100956T>A uc003bzl.2 - 2 276 c.161A>T c.(160-162)CAG>CTG p.Q54L MRPS25_uc011avl.1_Missense_Mutation_p.Q54L|MRPS25_uc011avm.1_Missense_Mutation_p.Q54L NM_022497 NP_071942 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 54 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 GTATTGAATCTGAGGTATGTT 0.383 NA 5 11 0 0 0 0 PTPN23 25930 broad.mit.edu 37 3 47450995 47450995 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:47450995C>T uc003crf.1 + 18 1982 c.1886C>T c.(1885-1887)GCA>GTA p.A629V PTPN23_uc011baw.1_Missense_Mutation_p.A594V|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A499V NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 629 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCCTCTGTGCACTGACAGAG 0.597 NA 20 3 0 0 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802098 68802098 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:68802098C>T uc003dnh.1 - 4 645 c.202G>A c.(202-204)GAA>AAA p.E68K FAM19A4_uc003dni.1_Missense_Mutation_p.E68K NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine 68 extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) GACCGCTCTTCTATGCGGTTC 0.537 NA 21 25 0 0 0 0 ARL6 84100 broad.mit.edu 37 3 97503853 97503853 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:97503853T>A uc003drv.2 + 6 622 c.309T>A c.(307-309)GTT>GTA p.V103V ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Silent_p.V103V|ARL6_uc010hoy.2_Silent_p.V103V NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 103 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TAAGAATGGTTGTGGCCAAAG 0.323 NA Bardet-Biedl_syndrome 28 24 0 0 0 0 FAM55C 91775 broad.mit.edu 37 3 101535759 101535759 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:101535759C>G uc003dvn.2 + 7 1680 c.1043C>G c.(1042-1044)ACA>AGA p.T348R FAM55C_uc010hpn.2_Missense_Mutation_p.T348R NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 348 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GACAACATTACAGAGTGCTTA 0.408 NA 29 113 0 0 0 0 UROC1 131669 broad.mit.edu 37 3 126219567 126219567 + Silent SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:126219567A>T uc003eiz.1 - 11 1148 c.1116T>A c.(1114-1116)CCT>CCA p.P372P UROC1_uc010hsi.1_Silent_p.P432P NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 372 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) TGAACACAGCAGGGTTGGAGG 0.597 NA 29 113 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130293063 130293063 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:130293063G>T uc010htl.2 + 7 3272 c.3241G>T c.(3241-3243)GCT>TCT p.A1081S NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1081 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ACACATCGGTGCTGCACTCAG 0.478 NA 12 60 9.31e-06 1.01e-05 1 0 SIAH2 6478 broad.mit.edu 37 3 150460290 150460290 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:150460290A>T uc003eyi.2 - 2 1240 c.613T>A c.(613-615)TTT>ATT p.F205I NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 205 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GTAGCTAGAAAGACGATGTCT 0.522 NA 15 61 0 0 0 0 PPM1L 151742 broad.mit.edu 37 3 160474321 160474321 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:160474321T>C uc003fdr.2 + 1 326 c.225T>C c.(223-225)CTT>CTC p.L75L NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 75 Cytoplasmic (Potential). protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCGGGGGGCTTGATGTGCTCG 0.597 NA 3 32 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907251 164907251 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:164907251G>T uc003fej.3 - 2 1812 c.1368C>A c.(1366-1368)CCC>CCA p.P456P SLITRK3_uc003fek.2_Silent_p.P456P NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 456 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TCTTTAAGTTGGGCAAGTTGA 0.428 NA HNSCC(40;0.11) 9 35 3.1e-07 3.44e-07 1 0 PLD1 5337 broad.mit.edu 37 3 171394568 171394568 + Silent SNP T T G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:171394568T>G uc003fhs.2 - 18 2168 c.2052A>C c.(2050-2052)GCA>GCC p.A684A PLD1_uc003fht.2_Silent_p.A646A|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Silent_p.A9A NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 684 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TCCCGTGGACTGCAGAGGCAA 0.517 NA 8 33 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 26 27 0 0 0 0 PARL 55486 broad.mit.edu 37 3 183547407 183547407 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr3:183547407T>C uc003fmd.2 - 10 1178 c.1119A>G c.(1117-1119)AAA>AAG p.K373K PARL_uc003fme.2_Silent_p.K323K NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 373 Mitochondrial intermembrane (Potential). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CACCTCCTTTTTTGGGGCCAT 0.488 NA 67 182 0 0 0 0 CD38 952 broad.mit.edu 37 4 15835919 15835919 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:15835919C>A uc011bxc.1 + 4 686 c.579C>A c.(577-579)TCC>TCA p.S193S CD38_uc003gol.1_Silent_p.S193S NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 193 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 AAACGGTTTCCCGCAGGGTAA 0.368 NA 9 30 0.000274275 0.000292202 1 0 GABRG1 2565 broad.mit.edu 37 4 46067515 46067515 + Missense_Mutation SNP G G T rs144076673 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:46067515G>T uc003gxb.2 - 4 560 c.408C>A c.(406-408)AAC>AAA p.N136K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 136 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCATATTACTGTTAAGCATAA 0.328 NA 7 36 5.18e-06 5.67e-06 1 0 CORIN 10699 broad.mit.edu 37 4 47667085 47667085 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:47667085C>T uc003gxm.2 - 11 1646 c.1553G>A c.(1552-1554)TGT>TAT p.C518Y CORIN_uc011bzf.1_Missense_Mutation_p.C379Y|CORIN_uc011bzg.1_Missense_Mutation_p.C451Y|CORIN_uc011bzh.1_Missense_Mutation_p.C481Y|CORIN_uc011bzi.1_Missense_Mutation_p.C481Y NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 518 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 ATTCACATCACATTTTGGTAC 0.443 NA 17 44 0 0 0 0 BDH2 56898 broad.mit.edu 37 4 104016422 104016422 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:104016422C>A uc003hwz.2 - 3 194 c.89G>T c.(88-90)GGT>GTT p.G30V BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 30 NAD. fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) GACTTTGGCACCTTCTCTTGC 0.403 NA 24 36 1.64e-13 1.92e-13 1 0 C4orf21 55345 broad.mit.edu 37 4 113553143 113553143 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:113553143C>T uc003iau.2 - 3 256 c.45G>A c.(43-45)ATG>ATA p.M15I C4orf21_uc003iaw.2_Missense_Mutation_p.M15I 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) TTGACTTCTTCATCTTTTGAT 0.308 NA 26 10 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134084195 134084195 + Nonsense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:134084195G>A uc003iha.2 + 4 3687 c.2861G>A c.(2860-2862)TGG>TAG p.W954* NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 954 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GATCGGTGCTGGATGCCTTCT 0.488 NA 34 26 0 0 0 0 SLC6A3 6531 broad.mit.edu 37 5 1432743 1432743 + Silent SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:1432743C>A uc003jck.2 - 4 610 c.489G>T c.(487-489)GCG>GCT p.A163A NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 163 Extracellular (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GATAGTGCAGCGCCCAGGCGA 0.587 NA 8 22 5.18e-06 5.67e-06 1 0 CTNND2 1501 broad.mit.edu 37 5 11565110 11565110 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:11565110C>T uc003jfa.1 - 3 378 c.233G>A c.(232-234)AGC>AAC p.S78N CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 78 Potential. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CTCCAGCTGGCTGGCTACGAT 0.517 NA 16 15 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16877787 16877787 + Silent SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:16877787G>T uc003jft.3 - 2 519 c.51C>A c.(49-51)GGC>GGA p.G17G MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Silent_p.G17G NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 17 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GAAAATGCTGGCCATTTTCTC 0.458 NA 12 20 2.81e-09 3.18e-09 1 0 PRDM9 56979 broad.mit.edu 37 5 23526849 23526850 + Missense_Mutation DNP TC TC AT TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:23526849_23526850TC>AT uc003jgo.2 + 11 1834_1835 c.1652_1653TC>AT c.(1651-1653)CTC>CAT p.L551H NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 551 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGGAGAAGCTCTACGTCTGCA 0.485 NA HNSCC(3;0.000094) 32 58 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31294222 31294222 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:31294222G>T uc003jhe.1 + 3 708 c.382G>T c.(382-384)GCT>TCT p.A128S CDH6_uc003jhd.1_Missense_Mutation_p.A128S NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 128 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CATCCTTCGAGCTCAAGCTAT 0.453 NA 24 117 3.8e-18 4.52e-18 1 0 RXFP3 51289 broad.mit.edu 37 5 33937766 33937766 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:33937766G>A uc003jic.1 + 1 1278 c.921G>A c.(919-921)GCG>GCA p.A307A NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 307 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GAGGGGCCGCGGTAGCCGGAG 0.652 NA 6 7 0 0 0 0 WDR70 55100 broad.mit.edu 37 5 37605263 37605263 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:37605263A>T uc003jkv.2 + 10 1073 c.1015A>T c.(1015-1017)ACA>TCA p.T339S WDR70_uc010iva.1_Missense_Mutation_p.T339S NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 339 WD 4. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACTACGTGCACATATAGTAG 0.418 NA 21 54 0 0 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74722212 74722212 + Missense_Mutation SNP G G C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:74722212G>C uc011csu.1 - 4 862 c.440C>G c.(439-441)TCC>TGC p.S147C COL4A3BP_uc003kds.2_Missense_Mutation_p.S147C|COL4A3BP_uc003kdt.2_Missense_Mutation_p.S275C|COL4A3BP_uc003kdu.2_Missense_Mutation_p.S147C NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 147 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TGAAGAGGTGGATGTTGCAGA 0.398 NA 9 31 0 0 0 0 IQGAP2 10788 broad.mit.edu 37 5 75886317 75886317 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:75886317C>T uc003kek.2 + 8 947 c.725C>T c.(724-726)GCG>GTG p.A242V NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 242 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AACCCAAATGCGGTTTTAACT 0.378 NA 28 25 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215095 140215095 + Missense_Mutation SNP A A T rs145294768 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:140215095A>T uc003lhq.2 + 1 1127 c.1127A>T c.(1126-1128)GAC>GTC p.D376V 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_uc011dac.1_Missense_Mutation_p.D376V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 376 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGTGTTTGACCGAGATTTT 0.502 NA 24 61 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215144 140215144 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:140215144C>T uc003lhq.2 + 1 1176 c.1176C>T c.(1174-1176)CGC>CGT p.R392R 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_uc011dac.1_Silent_p.R392R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 392 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACGCCCCGCGTTCCCTTCA 0.537 NA 27 88 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530019 140530019 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:140530019C>T uc003lir.2 + 1 181 c.181C>T c.(181-183)CGG>TGG p.R61W PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 61 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGCTTCGCGGGGCGCTCG 0.507 NA 24 51 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908052 140908052 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:140908052T>A uc003llb.3 - 24 3257 c.3116A>T c.(3115-3117)GAC>GTC p.D1039V DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.D1030V|DIAPH1_uc010jgc.1_Missense_Mutation_p.D475V NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 1039 Potential.|FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAAGCTCGTCTGGAAACTT 0.498 NA 22 17 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141336084 141336084 + Nonsense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:141336084G>A uc003llx.2 - 1 2544 c.1333C>T c.(1333-1335)CAG>TAG p.Q445* NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 445 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCTGAGCTGTTTCTTGGCT 0.488 NA 32 70 0 0 0 0 LARS 51520 broad.mit.edu 37 5 145506097 145506097 + Silent SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:145506097T>A uc003lnx.1 - 28 3130 c.2892A>T c.(2890-2892)GGA>GGT p.G964G LARS_uc003lnw.1_Silent_p.G122G|LARS_uc011dbq.1_Silent_p.G918G|LARS_uc011dbr.1_Silent_p.G910G|LARS_uc011dbs.1_Silent_p.G937G NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 964 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CAGGCAGTTTTCCGTTATTGG 0.408 NA 31 9 0 0 0 0 CCNJL 79616 broad.mit.edu 37 5 159686758 159686758 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:159686758C>A uc003lyb.1 - 5 697 c.445G>T c.(445-447)GAC>TAC p.D149Y CCNJL_uc011dee.1_Missense_Mutation_p.D101Y|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Missense_Mutation_p.D101Y NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 149 Cyclin N-terminal. nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGACGTGGTCTTCCCGATCC 0.557 NA 29 24 1.89e-17 2.23e-17 1 0 RNF130 55819 broad.mit.edu 37 5 179440200 179440200 + Missense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:179440200A>T uc003mll.1 - 3 961 c.554T>A c.(553-555)ATG>AAG p.M185K RNF130_uc003mlm.1_Missense_Mutation_p.M185K NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 185 Extracellular (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCGGTGGCATTCGAGTTCC 0.373 NA 26 74 0 0 0 0 TRIM41 90933 broad.mit.edu 37 5 180651243 180651243 + Missense_Mutation SNP T T G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr5:180651243T>G uc003mne.1 + 1 938 c.244T>G c.(244-246)TGG>GGG p.W82G uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.W82G|TRIM41_uc003mnd.1_Missense_Mutation_p.W82G|TRIM41_uc003mnf.1_RNA NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 82 Glu-rich. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|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) TGGCGCGGGGTGGGACACCCC 0.493 NA 13 57 0 0 0 0 EXOC2 55770 broad.mit.edu 37 6 556005 556005 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:556005T>C uc003mtd.2 - 19 2075 c.1941A>G c.(1939-1941)CAA>CAG p.Q647Q EXOC2_uc003mte.2_Silent_p.Q647Q|EXOC2_uc011dho.1_Silent_p.Q242Q NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 647 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTTTAGGTTGTTGGAAGACCT 0.338 NA 34 40 0 0 0 0 SYCP2L 221711 broad.mit.edu 37 6 10907904 10907904 + Missense_Mutation SNP G G C rs143568506 by1000genomes TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:10907904G>C uc003mzo.2 + 10 1102 c.806G>C c.(805-807)CGA>CCA p.R269P SYCP2L_uc011din.1_Missense_Mutation_p.R110P|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 269 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ATTAAGGATCGAGAATTTGAG 0.403 NA 35 53 0 0 0 0 BMP5 653 broad.mit.edu 37 6 55620386 55620386 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:55620386T>A uc003pcq.2 - 7 2022 c.1310A>T c.(1309-1311)AAT>ATT p.N437I BMP5_uc011dxf.1_Missense_Mutation_p.N400I NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 437 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CAAAATGACATTGGAGCTGTC 0.353 NA 28 35 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112513043 112513043 + Silent SNP G G A rs140249081 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:112513043G>A uc003pvu.2 - 6 822 c.513C>T c.(511-513)CCC>CCT p.P171P LAMA4_uc003pvv.2_Silent_p.P171P|LAMA4_uc003pvt.2_Silent_p.P171P NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 171 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CATAGTAACCGGGAGCACATC 0.358 NA 6 22 0 0 0 0 C6orf174 387104 broad.mit.edu 37 6 127796905 127796905 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:127796905C>T uc003qbd.2 - 6 3131 c.2266G>A c.(2266-2268)GAC>AAC p.D756N C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 756 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TTGCCCGCGTCGCTCTCGGCG 0.692 NA 24 53 0 0 0 0 MAP3K5 4217 broad.mit.edu 37 6 136977517 136977517 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:136977517T>C uc003qhc.2 - 10 1969 c.1608A>G c.(1606-1608)CAA>CAG p.Q536Q MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Silent_p.Q381Q|MAP3K5_uc010kgw.1_Silent_p.Q536Q NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 536 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCACAAGTTCTTGCTTGGCCA 0.393 NA 45 94 0 0 0 0 OLIG3 167826 broad.mit.edu 37 6 137814642 137814642 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:137814642C>T uc003qhp.1 - 1 890 c.666G>A c.(664-666)CCG>CCA p.P222P NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GCAGCGCGGGCGGCGTGGAGG 0.711 NA 3 2 0 0 0 0 FBXO30 84085 broad.mit.edu 37 6 146127529 146127529 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:146127529G>A uc003qla.2 - 2 212 c.13C>T c.(13-15)CTG>TTG p.L5L uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 5 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GAATGCTGCAGCTCCTCCTCC 0.413 NA 10 24 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165752811 165752811 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:165752811G>A uc003qun.2 - 21 2345 c.2104C>T c.(2104-2106)CCT>TCT p.P702S PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P632S|PDE10A_uc003quo.2_Missense_Mutation_p.P712S NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 702 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCCATCATAGGAATAGGCTGT 0.353 NA 22 61 0 0 0 0 DLL1 28514 broad.mit.edu 37 6 170592411 170592411 + Silent SNP G G A rs140596420 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr6:170592411G>A uc003qxm.2 - 9 2426 c.1956C>T c.(1954-1956)ACC>ACT p.T652T NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 652 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CCCTGACGGCGGTGTCGTCAC 0.662 NA 8 35 0 0 0 0 MIOS 54468 broad.mit.edu 37 7 7628164 7628164 + Silent SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:7628164A>G uc003srf.2 + 8 2162 c.1854A>G c.(1852-1854)GCA>GCG p.A618A MIOS_uc003srg.2_Silent_p.A153A|MIOS_uc010ktq.2_Missense_Mutation_p.H16R NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 618 0 ACAGAGTGGCATTTGCTTGTA 0.348 NA 27 36 0 0 0 0 AMPH 273 broad.mit.edu 37 7 38530702 38530702 + Missense_Mutation SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:38530702T>C uc003tgu.2 - 5 413 c.344A>G c.(343-345)GAT>GGT p.D115G AMPH_uc003tgv.2_Missense_Mutation_p.D115G NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 115 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CAAGGACCCATCCACGAGTTT 0.398 NA 42 174 0 0 0 0 ZNF479 90827 broad.mit.edu 37 7 57188062 57188062 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:57188062C>T uc010kzo.2 - 5 1331 c.1060G>A c.(1060-1062)GCC>ACC p.A354T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 354 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TCTTCACAGGCATAGGGTTTC 0.443 NA 4 11 0 0 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76021316 76021316 + Missense_Mutation SNP T T A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:76021316T>A uc003ufb.2 - 10 1724 c.1376A>T c.(1375-1377)GAG>GTG p.E459V SRCRB4D_uc003ufa.2_5'UTR NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 459 extracellular region|membrane scavenger receptor activity pancreas(1) 1 CCGCGTGGTCTCAGAACCATC 0.592 NA 5 10 0 0 0 0 PON1 5444 broad.mit.edu 37 7 94931578 94931578 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:94931578C>G uc003uns.2 - 8 945 c.848G>C c.(847-849)GGA>GCA p.G283A PON1_uc011kih.1_Missense_Mutation_p.G283A NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 283 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GGGATGGCATCCAACCCAAAG 0.388 NA 13 65 0 0 0 0 ARPC1A 10552 broad.mit.edu 37 7 98931012 98931012 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:98931012C>T uc003upx.1 + 2 183 c.36C>T c.(34-36)ACC>ACT p.T12T ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_5'UTR|ARPC1A_uc011kit.1_RNA NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 12 WD 1. actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) AGCCAATCACCTGTCATGCCT 0.343 NA 14 32 0 0 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117351772 117351772 + Nonsense_Mutation SNP A A T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:117351772A>T uc003vjf.2 - 23 4903 c.4811T>A c.(4810-4812)TTG>TAG p.L1604* NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1604 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGAAACACCCAACTCAGTCTT 0.423 NA 60 54 0 0 0 0 CADPS2 93664 broad.mit.edu 37 7 122091450 122091450 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:122091450C>G uc010lkp.2 - 14 2429 c.2266G>C c.(2266-2268)GAA>CAA p.E756Q CADPS2_uc011knx.1_Missense_Mutation_p.E127Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E453Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E753Q NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 756 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 ATCTGATTTTCTAAAAGGGAA 0.299 NA 5 30 0 0 0 0 TRIM24 8805 broad.mit.edu 37 7 138252382 138252382 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:138252382C>A uc003vuc.2 + 10 1902 c.1687C>A c.(1687-1689)CAA>AAA p.Q563K TRIM24_uc003vub.2_Missense_Mutation_p.Q529K NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 563 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TTTCTTGGCTCAACAAGCCAT 0.388 NA 10 44 5.62e-17 6.64e-17 1 0 SSPO 23145 broad.mit.edu 37 7 149474828 149474828 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr7:149474828C>T uc010lpk.2 + 5 627 c.627C>T c.(625-627)CGC>CGT p.R209R SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 209 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTGATGGCCGCCACTATCACT 0.697 NA 12 13 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55541985 55541985 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:55541985C>A uc003xsd.1 + 4 5691 c.5543C>A c.(5542-5544)GCA>GAA p.A1848E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1848 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAAGAATAGCAAATCATCAT 0.413 NA 11 78 2.81e-09 3.18e-09 1 0 CYP7A1 1581 broad.mit.edu 37 8 59410989 59410989 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:59410989T>C uc003xtm.3 - 2 183 c.120A>G c.(118-120)CCA>CCG p.P40P NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 40 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGCCCAGGTATGGAATTAATC 0.418 NA Neonatal_Giant_Cell_Hepatitis 72 210 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744483 70744483 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:70744483C>T uc003xyl.2 - 2 1133 c.426G>A c.(424-426)GCG>GCA p.A142A SLCO5A1_uc010lzb.2_Silent_p.A142A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A142A|SLCO5A1_uc010lzc.2_Silent_p.A142A NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 142 Helical; Name=1; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGACCATTAACGCCTGGATGA 0.557 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 52 0 0 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87163762 87163762 + Missense_Mutation SNP A A G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:87163762A>G uc003ydp.1 + 7 953 c.884A>G c.(883-885)GAG>GGG p.E295G NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 295 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 GTGTTTTACGAGCGTGAGGTA 0.328 NA 15 51 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100789144 100789144 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:100789144G>A uc003yiv.2 + 41 7575 c.7464G>A c.(7462-7464)CTG>CTA p.L2488L VPS13B_uc003yiw.2_Silent_p.L2463L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2488 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGCTCACCTGGAATTCCATC 0.438 NA 84 226 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110984585 110984585 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:110984585C>A uc003ynr.3 - 2 1235 c.893G>T c.(892-894)AGC>ATC p.S298I KCNV1_uc010mcw.2_Missense_Mutation_p.S298I NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 298 Extracellular (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CGTGGTCTGGCTCCCACTTAG 0.562 NA 14 48 2.32e-09 2.64e-09 1 0 GSDMC 56169 broad.mit.edu 37 8 130765053 130765053 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:130765053G>A uc003ysr.2 - 7 1617 c.735C>T c.(733-735)TCC>TCT p.S245S NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 245 mitochondrion ovary(2)|skin(1) 3 ctaccatttcggaaatttcgt 0 NA 13 86 0 0 0 0 TG 7038 broad.mit.edu 37 8 133881999 133881999 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:133881999C>A uc003ytw.2 + 3 243 c.202C>A c.(202-204)CGC>AGC p.R68S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 68 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAACGACGGCCGCTCCTGCTG 0.652 NA 61 40 1.41e-22 1.7e-22 1 0 ZFAT 57623 broad.mit.edu 37 8 135524795 135524795 + Missense_Mutation SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr8:135524795G>A uc003yup.2 - 14 3459 c.3284C>T c.(3283-3285)ACA>ATA p.T1095I ZFAT_uc011ljj.1_Missense_Mutation_p.T214I|ZFAT_uc003yun.2_Missense_Mutation_p.T1083I|ZFAT_uc003yuo.2_Missense_Mutation_p.T1083I|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T1083I|ZFAT_uc010mej.2_Missense_Mutation_p.T1033I NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1095 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TTCGGCCTCTGTGATGTGGAG 0.522 NA 34 229 0 0 0 0 TRPM3 80036 broad.mit.edu 37 9 73399062 73399062 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:73399062C>T uc004aid.2 - 7 1351 c.1107G>A c.(1105-1107)TCG>TCA p.S369S TRPM3_uc004ahu.2_Silent_p.S199S|TRPM3_uc004ahv.2_Silent_p.S199S|TRPM3_uc004ahw.2_Silent_p.S241S|TRPM3_uc004ahx.2_Silent_p.S216S|TRPM3_uc004ahy.2_Silent_p.S241S|TRPM3_uc004ahz.2_Silent_p.S216S|TRPM3_uc004aia.2_Silent_p.S216S|TRPM3_uc004aib.2_Silent_p.S216S|TRPM3_uc004aic.2_Silent_p.S369S|TRPM3_uc010mor.2_Silent_p.S369S|TRPM3_uc004aie.2_Silent_p.S216S|TRPM3_uc004aif.2_Silent_p.S241S|TRPM3_uc004aig.2_Silent_p.S216S NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 394 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CCAGGATGTCCGATGCCCGTC 0.527 NA 33 19 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323433 79323433 + Missense_Mutation SNP G G T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:79323433G>T uc010mpk.2 - 8 3881 c.3757C>A c.(3757-3759)CCC>ACC p.P1253T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1253 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GAATGGCTGGGGATTTCAGGA 0.453 NA 22 11 2.22e-12 2.58e-12 1 0 COL15A1 1306 broad.mit.edu 37 9 101816858 101816858 + Missense_Mutation SNP G G T rs140851301 by1000genomes TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:101816858G>T uc004azb.1 + 32 3157 c.2951G>T c.(2950-2952)GGT>GTT p.G984V NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 984 Triple-helical region 6 (COL6). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TTGGTGGCAGGTGTTAAAGGA 0.433 NA 21 8 3.62e-10 4.16e-10 1 0 OR13F1 138805 broad.mit.edu 37 9 107267404 107267404 + Silent SNP T T C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:107267404T>C uc011lvm.1 + 1 861 c.861T>C c.(859-861)CCT>CCC p.P287P NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 TGTTGAATCCTATCATCTATA 0.418 NA 41 6 0 0 0 0 C9orf43 257169 broad.mit.edu 37 9 116191548 116191548 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:116191548C>T uc004bho.3 + 14 1664 c.1268C>T c.(1267-1269)TCC>TTC p.S423F C9orf43_uc004bhp.2_Missense_Mutation_p.S423F NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 423 0 AAGAAGATCTCCTTTAACTTT 0.468 NA 19 67 0 0 0 0 ZER1 10444 broad.mit.edu 37 9 131515598 131515598 + Silent SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr9:131515598C>T uc004bwa.1 - 4 1024 c.591G>A c.(589-591)CCG>CCA p.P197P NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 197 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 GGGAGTTAAGCGGCCGCAGCA 0.602 NA 8 5 0 0 0 0 RS1 6247 broad.mit.edu 37 X 18660166 18660166 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:18660166G>A uc004cyo.2 - 6 668 c.633C>T c.(631-633)GCC>GCT p.A211A CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 211 F5/8 type C. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) CCATCCGGATGGCAATGCGGA 0.677 NA 34 10 0 0 0 0 MTMR8 55613 broad.mit.edu 37 X 63445187 63445187 + Missense_Mutation SNP C C G TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:63445187C>G uc011mou.1 - 10 1537 c.1469G>C c.(1468-1470)AGT>ACT p.S490T ASB12_uc004dvp.1_Missense_Mutation_p.S106T|ASB12_uc004dvq.1_Missense_Mutation_p.S115T|ASB12_uc004dvr.1_Missense_Mutation_p.S115T NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 306 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 ATGGCCATGACTGACAGCAGT 0.527 NA 7 5 0 0 0 0 PHKA1 5255 broad.mit.edu 37 X 71887231 71887231 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:71887231G>A uc004eax.3 - 7 1012 c.711C>T c.(709-711)CAC>CAT p.H237H PHKA1_uc004eay.3_Silent_p.H237H|PHKA1_uc011mqi.1_Silent_p.H237H NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 237 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) TTACCTGGCAGTGCTGTACTT 0.423 NA 18 7 0 0 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104512216 104512216 + Missense_Mutation SNP A A C TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:104512216A>C uc004elz.1 + 5 1445 c.689A>C c.(688-690)AAA>ACA p.K230T NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 230 Ig-like C2-type 2.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 ACTGAATTGAAAGTTACAGGT 0.333 NA 25 10 0 0 0 0 COL4A6 1288 broad.mit.edu 37 X 107553986 107553986 + Missense_Mutation SNP C C T TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:107553986C>T uc004enw.3 - 3 242 c.139G>A c.(139-141)GGA>AGA p.G47R COL4A6_uc004env.3_Missense_Mutation_p.G46R|COL4A6_uc011msn.1_Missense_Mutation_p.G46R|COL4A6_uc010npk.2_Missense_Mutation_p.G46R|COL4A6_uc004enx.2_RNA|COL4A6_uc004eny.2_RNA NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 47 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 ACTCTCGCTCCTTTCTCAGGA 0.383 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 41 7 0 0 0 0 MAST2 23139 broad.mit.edu 37 1 46295227 46295228 + Frame_Shift_Del DEL TC TC - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:46295227_46295228delTC uc001cov.2 + 3 725_726 c.442_443delTC c.(442-444)TCTfs p.S148fs MAST2_uc001cow.2_Frame_Shift_Del_p.S148fs NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 148 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCTTGGACAGTCTGCACCTTCT 0.446 NA 39 32 --- --- --- --- NA NA NA NA KIAA0907 22889 broad.mit.edu 37 1 155887376 155887387 + In_Frame_Del DEL GGGGCTGGGGCT GGGGCTGGGGCT - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr1:155887376_155887387delGGGGCTGGGGCT uc001fmi.1 - 11 1367_1378 c.1343_1354delAGCCCCAGCCCC c.(1342-1356)CAGCCCCAGCCCCCA>CCA p.QPQP448del KIAA0907_uc001fmj.1_In_Frame_Del_p.QPQP448del|KIAA0907_uc009wrk.1_In_Frame_Del_p.QPQP305del|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 448_451 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CTTGGGAGTGggggctggggctggggctgggg 0.439 NA 14 75 --- --- --- --- NA NA NA NA CDH1 999 broad.mit.edu 37 16 68847250 68847255 + In_Frame_Del DEL TCGTAA TCGTAA - rs148080550 TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr16:68847250_68847255delTCGTAA uc002ewg.1 + 9 1296_1301 c.1172_1177delTCGTAA c.(1171-1179)GTCGTAATC>GTC p.VI392del CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 392_393 Cadherin 3.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Y380_K440del(5) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GAGGCTAACGTCGTAATCACCACACT 0.495 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 16 64 --- --- --- --- NA NA NA NA CHD3 1107 broad.mit.edu 37 17 7797825 7797826 + Frame_Shift_Ins INS - - A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr17:7797825_7797826insA uc002gje.2 + 8 1318_1319 c.1168_1169insA c.(1168-1170)GAAfs p.E390fs CHD3_uc002gjd.2_Frame_Shift_Ins_p.E449fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.E390fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.E218fs NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 390 PHD-type 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GCAGGGTGGGGAAATTATTCTG 0.589 NA 30 60 --- --- --- --- NA NA NA NA TMEM200C 645369 broad.mit.edu 37 18 5890315 5890324 + Frame_Shift_Del DEL GGTGGCTCCT GGTGGCTCCT - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr18:5890315_5890324delGGTGGCTCCT uc002kmx.1 - 1 1780_1789 c.1739_1748delAGGAGCCACC c.(1738-1749)CAGGAGCCACCCfs p.Q580fs NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 580_583 integral to membrane 0 CTCGGCCGTGGGTGGCTCCTGGCTGGCACC 0.6 NA 8 85 --- --- --- --- NA NA NA NA NOTCH3 4854 broad.mit.edu 37 19 15296203 15296204 + Frame_Shift_Del DEL CA CA - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr19:15296203_15296204delCA uc002nan.2 - 14 2236_2237 c.2160_2161delTG c.(2158-2163)TGTGAGfs p.C720fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.C720fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 720_721 Extracellular (Potential).|EGF-like 18. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CAGCCAGGCTCACACACACAGC 0.688 NA 11 14 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187532702 187532705 + Frame_Shift_Del DEL CAAA CAAA - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chr4:187532702_187532705delCAAA uc003izf.2 - 14 9876_9879 c.9688_9691delTTTG c.(9688-9693)TTTGAGfs p.F3230fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3230_3231 Extracellular (Potential).|Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCACGGTACTCAAACACAGGGGGG 0.471 NA HNSCC(5;0.00058) 22 15 --- --- --- --- NA NA NA NA DMD 1756 broad.mit.edu 37 X 31227736 31227736 + Frame_Shift_Del DEL G G - TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0604584e-0654-4b00-94fc-45e76588000c f6a9ac40-b1a9-4915-bfda-f2d01607b2b4 g.chrX:31227736delG uc004dda.1 - 65 9686 c.9442delC c.(9442-9444)CTGfs p.L3148fs DMD_uc004dcq.1_Frame_Shift_Del_p.L419fs|DMD_uc004dcr.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcs.1_Frame_Shift_Del_p.L688fs|DMD_uc004dct.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcu.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcv.1_Frame_Shift_Del_p.L688fs|DMD_uc004dcw.2_Frame_Shift_Del_p.L1804fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L1807fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L3025fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L3144fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L3140fs|DMD_uc004dcm.1_Frame_Shift_Del_p.L80fs|DMD_uc004dcn.1_Frame_Shift_Del_p.L80fs|DMD_uc004dco.1_Frame_Shift_Del_p.L80fs|DMD_uc004dcp.1_Frame_Shift_Del_p.L80fs|DMD_uc011mkb.1_Frame_Shift_Del_p.L80fs|DMD_uc010ngm.2_Frame_Shift_Del_p.L80fs NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3148 Interaction with SYNM (By similarity). 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) ATAATCTGCAGGATATCCATG 0.448 NA 21 11 --- --- --- --- NA NA NA NA