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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut TTLL10 254173 broad.mit.edu 37 1 1118337 1118337 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:1118337C>T uc001acy.2 + 11 1149 c.998C>T c.(997-999)GCC>GTC p.A333V TTLL10_uc010nyg.1_Missense_Mutation_p.A333V|TTLL10_uc001acz.1_Missense_Mutation_p.A260V NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 333 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGGAAGTTGCCGCCCTGCAG 0.662 NA 3 16 0 0 0.004672 0 0 UBE4B 10277 broad.mit.edu 37 1 10155625 10155625 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:10155625G>A uc001aqs.3 + 3 1031 c.318G>A c.(316-318)ATG>ATA p.M106I UBE4B_uc001aqr.3_Missense_Mutation_p.M106I|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 106 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCCAGAGCATGGATATCGATG 0.448 NA 33 78 0 0 0.004878 0 0 KIF1B 23095 broad.mit.edu 37 1 10407885 10407885 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:10407885G>A uc001aqx.3 + 36 4066 c.3864G>A c.(3862-3864)CAG>CAA p.Q1288Q KIF1B_uc001aqw.3_Silent_p.Q1242Q|KIF1B_uc001aqy.2_Silent_p.Q1262Q|KIF1B_uc001aqz.2_Silent_p.Q1288Q|KIF1B_uc001ara.2_Silent_p.Q1248Q|KIF1B_uc001arb.2_Silent_p.Q1274Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1288 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGCTTCATCAGGTACTAATGA 0.398 NA 20 62 0 0 0.010504 0 0 C1orf127 148345 broad.mit.edu 37 1 11008316 11008316 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:11008316G>A uc010oao.1 - 8 1434 c.1429C>T c.(1429-1431)CGC>TGC p.R477C C1orf127_uc001arr.1_Missense_Mutation_p.R459C|C1orf127_uc001ars.1_Missense_Mutation_p.R451C NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 477 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTGTCTGGCGTGGCCTCTCC 0.657 NA 24 140 0 0 0.008361 0 0 UBR4 23352 broad.mit.edu 37 1 19443790 19443790 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:19443790C>A uc001bbi.2 - 73 10752 c.10748G>T c.(10747-10749)CGG>CTG p.R3583L UBR4_uc001bbj.1_5'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3583 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CATCTTGGTCCGTTTCAGATC 0.507 NA 68 127 1.43987e-31 2.29499e-31 0.00361 1 0 LDLRAP1 26119 broad.mit.edu 37 1 25880433 25880433 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:25880433G>T uc001bkl.3 + 2 223 c.109G>T c.(109-111)GAC>TAC p.D37Y NM_015627 NP_056442 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 37 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GAACTGGACAGACACGCGGGA 0.647 NA 10 40 7.03913e-09 8.26135e-09 0.001368 1 0 PPCS 79717 broad.mit.edu 37 1 42922700 42922700 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:42922700A>G uc001chl.2 + 1 528 c.464A>G c.(463-465)TAT>TGT p.Y155C ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 155 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGGCGGACTATTTGCATCTG 0.582 NA 21 54 0 0 0.00333 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474186 44474186 + Silent SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:44474186G>C uc001cll.2 - 5 840 c.648C>G c.(646-648)CCC>CCG p.P216P SLC6A9_uc009vxe.2_Silent_p.P72P|SLC6A9_uc010okm.1_Silent_p.P143P|SLC6A9_uc001clm.2_Silent_p.P162P|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.P147P|SLC6A9_uc001cln.2_Silent_p.P143P|SLC6A9_uc010oko.1_Silent_p.P32P|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 216 Extracellular (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) AGTAGGCCCAGGGCAGCACGT 0.572 NA 31 110 0 0 0.002836 0 0 MKNK1 8569 broad.mit.edu 37 1 47030775 47030775 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:47030775C>T uc001cqb.2 - 10 950 c.706G>A c.(706-708)GGC>AGC p.G236S MKNK1_uc010omd.1_Missense_Mutation_p.G100S|MKNK1_uc001cqc.2_Missense_Mutation_p.G195S|MKNK1_uc009vyi.2_Missense_Mutation_p.G195S|MKNK1_uc010ome.1_Missense_Mutation_p.G100S|MKNK1_uc009vyj.2_Missense_Mutation_p.G140S NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 236 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) ATCCCACTGCCCAAGTCAAAG 0.493 NA 42 220 0 0 0.00361 0 0 KANK4 163782 broad.mit.edu 37 1 62740193 62740193 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:62740193C>A uc001dah.3 - 3 960 c.583G>T c.(583-585)GGT>TGT p.G195C KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 195 Pro-rich. ovary(3)|skin(2)|lung(1) 6 CTGCCTTCACCCTGAAGGGGA 0.627 NA 15 49 5.3912e-06 5.89159e-06 0.006122 1 0 LRRC40 55631 broad.mit.edu 37 1 70641659 70641659 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:70641659G>A uc001der.1 - 7 863 c.811C>T c.(811-813)CAC>TAC p.H271Y NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 271 LRR 9. ovary(1) 1 TCACCTACGTGCAATTCCTAC 0.308 NA 4 47 0 0 0.000602 0 0 C1orf173 127254 broad.mit.edu 37 1 75037769 75037769 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:75037769G>T uc001dgg.2 - 14 3844 c.3625C>A c.(3625-3627)CGC>AGC p.R1209S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1209 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCATCTTGGCGGTGCCCTTCC 0.602 NA 68 126 9.4991e-31 1.50094e-30 0.00361 1 0 LHX8 431707 broad.mit.edu 37 1 75608973 75608973 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:75608973G>A uc001dgo.2 + 6 1224 c.560G>A c.(559-561)AGA>AAA p.R187K LHX8_uc001dgq.2_Missense_Mutation_p.R126K NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 187 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GTCCTCTGCAGAGTACATTAT 0.393 NA 9 39 0 0 0.008291 0 0 IFI44L 10964 broad.mit.edu 37 1 79107250 79107250 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:79107250G>C uc010oro.1 + 8 1459 c.1280G>C c.(1279-1281)CGG>CCG p.R427P IFI44L_uc010orp.1_Missense_Mutation_p.R164P|IFI44L_uc010orq.1_Missense_Mutation_p.R164P NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 427 cytoplasm 0 CAGATGCTGCGGGCTGCAGAT 0.438 NA 15 92 0 0 0.00499 0 0 LPHN2 23266 broad.mit.edu 37 1 82408764 82408764 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:82408764T>C uc001dit.3 + 6 690 c.509T>C c.(508-510)ATT>ACT p.I170T LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I170T|LPHN2_uc001div.2_Missense_Mutation_p.I170T|LPHN2_uc009wcd.2_Missense_Mutation_p.I170T NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 170 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCAGATAAAATTTATTTCATG 0.408 NA 8 54 0 0 0.004482 0 0 SYDE2 84144 broad.mit.edu 37 1 85648290 85648290 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:85648290A>G uc009wcm.2 - 3 2084 c.2035T>C c.(2035-2037)TCT>CCT p.S679P SYDE2_uc001dku.3_Missense_Mutation_p.S679P NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 679 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) ATGAGCCCAGATATGTACTGT 0.343 NA 18 25 0 0 0.008871 0 0 CLCA2 9635 broad.mit.edu 37 1 86900337 86900337 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:86900337C>A uc001dlr.3 + 6 1043 c.881C>A c.(880-882)ACT>AAT p.T294N NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 294 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ATGAATGGGACTGAGCTTCCA 0.498 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 13 105 3.85864e-22 5.67905e-22 0.00278 1 0 LRRC8C 84230 broad.mit.edu 37 1 90179493 90179493 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:90179493A>T uc001dnl.3 + 3 1606 c.1364A>T c.(1363-1365)AAG>ATG p.K455M NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 455 LRR 3. endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) GAAATCATTAAGAACGTAATG 0.443 NA 36 100 0 0 0.002836 0 0 PRPF38B 55119 broad.mit.edu 37 1 109241810 109241810 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:109241810G>C uc001dvv.3 + 6 1091 c.809G>C c.(808-810)CGG>CCG p.R270P PRPF38B_uc001dvw.3_Missense_Mutation_p.R159P|PRPF38B_uc010ouz.1_Missense_Mutation_p.R73P NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 270 Arg-rich. mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) CTGAGTCCACGGAGGTCCCCA 0.433 NA 30 57 0 0 0.009535 0 0 SEMA6C 10500 broad.mit.edu 37 1 151110269 151110269 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:151110269T>A uc001ewu.2 - 10 974 c.674A>T c.(673-675)CAC>CTC p.H225L SEMA6C_uc001ewv.2_Missense_Mutation_p.H225L|SEMA6C_uc001eww.2_Missense_Mutation_p.H185L|SEMA6C_uc010pcq.1_Missense_Mutation_p.H225L|SEMA6C_uc009wml.1_RNA NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 225 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGGACAAAGTGTGGCTCTAA 0.547 NA 37 137 0 0 0.004289 0 0 HRNR 388697 broad.mit.edu 37 1 152191540 152191540 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:152191540G>T uc001ezt.1 - 3 2641 c.2565C>A c.(2563-2565)GGC>GGA p.G855G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 855 9. 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) AGTCATGTTGGCCGGAGCTTG 0.582 NA 72 102 9.04243e-43 1.46039e-42 0.00361 1 0 IVL 3713 broad.mit.edu 37 1 152882670 152882670 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:152882670C>A uc001fau.2 + 2 443 c.397C>A c.(397-399)CAA>AAA p.Q133K NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 133 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTTAGACCAGCAACTGGATCA 0.403 NA 13 45 8.60227e-14 1.10948e-13 0.004007 1 0 GBA 2629 broad.mit.edu 37 1 155207330 155207330 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:155207330C>A uc001fjh.2 - 7 951 c.801G>T c.(799-801)TGG>TGT p.W267C RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.W154C|GBA_uc010pfx.1_Missense_Mutation_p.W218C|GBA_uc001fji.2_Missense_Mutation_p.W267C|GBA_uc001fjj.2_Missense_Mutation_p.W267C|GBA_uc001fjk.2_Missense_Mutation_p.W267C|GBA_uc001fjl.2_Missense_Mutation_p.W267C|GBA_uc010pfy.1_Missense_Mutation_p.W180C|GBA_uc009wqk.1_Missense_Mutation_p.W180C NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 267 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CTGTCACTGCCCAGAACTGTA 0.507 NA Gaucher_disease_type_I 7 44 5.16669e-11 6.37108e-11 0.010729 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156914841 156914841 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:156914841C>A uc001fqo.2 - 29 3881 c.2841G>T c.(2839-2841)AGG>AGT p.R947S ARHGEF11_uc010phu.1_Missense_Mutation_p.R363S|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R987S NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 947 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTTGCTGGCCCTCTCCAGGG 0.562 NA 91 253 3.99045e-58 6.59056e-58 0.00361 1 0 IGSF8 93185 broad.mit.edu 37 1 160063683 160063683 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:160063683C>T uc001fva.2 - 3 766 c.721G>A c.(721-723)GGG>AGG p.G241R IGSF8_uc001fuz.2_Missense_Mutation_p.G241R|IGSF8_uc009wtf.2_Missense_Mutation_p.G241R NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 241 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGAAGCTCCCCTGCAGCCAAT 0.642 NA 20 35 0 0 0.002299 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970075 161970075 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:161970075G>T uc001gbu.2 - 5 1201 c.777C>A c.(775-777)ATC>ATA p.I259I OLFML2B_uc010pkq.1_Silent_p.I260I NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 259 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCAGAAGTTCGATGGAGTTGA 0.617 NA 24 55 4.72057e-08 5.41827e-08 0.003954 1 0 PRG4 10216 broad.mit.edu 37 1 186278009 186278009 + Missense_Mutation SNP G G T rs149799261 by1000genomes TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:186278009G>T uc001gru.3 + 7 3209 c.3158G>T c.(3157-3159)CGC>CTC p.R1053L PRG4_uc001grt.3_Missense_Mutation_p.R1012L|PRG4_uc009wyl.2_Missense_Mutation_p.R960L|PRG4_uc009wym.2_Missense_Mutation_p.R919L|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1053 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCAACTCCCCGCAAGATGACA 0.448 NA 30 120 3.80469e-20 5.48899e-20 0.009535 1 0 F13B 2165 broad.mit.edu 37 1 197029605 197029605 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:197029605T>A uc001gtt.1 - 5 740 c.696A>T c.(694-696)GAA>GAT p.E232D NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 232 Sushi 4. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CATCTCCTTCTTCATAGGTTT 0.299 NA 3 32 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197390532 197390532 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:197390532T>C uc001gtz.2 + 6 1709 c.1574T>C c.(1573-1575)TTC>TCC p.F525S CRB1_uc010poz.1_Missense_Mutation_p.F456S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.F413S|CRB1_uc010ppb.1_Missense_Mutation_p.F525S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.F6S|CRB1_uc001gub.1_Missense_Mutation_p.F174S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 525 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTTCTACTTTTCCGAAGCAAC 0.458 NA 35 64 0 0 0.00623 0 0 CACNA1S 779 broad.mit.edu 37 1 201044702 201044702 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:201044702C>A uc001gvv.2 - 13 2096 c.1869G>T c.(1867-1869)GGG>GGT p.G623G NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 623 II.|Extracellular (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGCCATGATCCCATTGTACA 0.542 NA 83 195 2.20344e-50 3.60653e-50 0.00361 1 0 LRRN2 10446 broad.mit.edu 37 1 204587527 204587527 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:204587527G>T uc001hbe.1 - 3 1982 c.1594C>A c.(1594-1596)CGG>AGG p.R532R MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R532R|LRRN2_uc009xbf.1_Silent_p.R532R|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 532 Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCCTGCACCCGGAGCTCCAGC 0.637 NA 37 70 6.19805e-25 9.30983e-25 0.005524 1 0 LAMB3 3914 broad.mit.edu 37 1 209801421 209801421 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:209801421C>A uc001hhg.2 - 10 1637 c.1247G>T c.(1246-1248)GGC>GTC p.G416V LAMB3_uc009xco.2_Missense_Mutation_p.G416V|LAMB3_uc001hhh.2_Missense_Mutation_p.G416V|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 416 Laminin EGF-like 3. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCCAGTGAAGCCCGGCTTGCA 0.672 NA OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0.000602214 0.000635284 0.000602 1 0 CENPF 1063 broad.mit.edu 37 1 214818476 214818476 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:214818476G>T uc001hkm.2 + 13 5737 c.5563G>T c.(5563-5565)GAG>TAG p.E1855* NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1951 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGATCACCAGGAGTTACTCCA 0.343 Colon(80;575 1284 11000 14801 43496) NA 5 44 5.9392e-07 6.69077e-07 0.001168 1 0 NUP133 55746 broad.mit.edu 37 1 229588306 229588306 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:229588306G>A uc001htn.2 - 22 3157 c.3065C>T c.(3064-3066)GCG>GTG p.A1022V NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1022 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TACTGGCATCGCACTGAGATT 0.448 NA 15 60 0 0 0.008871 0 0 RYR2 6262 broad.mit.edu 37 1 237656365 237656365 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:237656365C>A uc001hyl.1 + 19 2059 c.1939C>A c.(1939-1941)CGT>AGT p.R647S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 647 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTGCAGACACGTCTTGTGAA 0.443 NA 6 21 1.06961e-07 1.22003e-07 0.00308 1 0 ZP4 57829 broad.mit.edu 37 1 238048738 238048738 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:238048738G>T uc001hym.2 - 8 1113 c.1113C>A c.(1111-1113)CCC>CCA p.P371P LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 371 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGTCAGTGCTGGGTGTTGCCC 0.537 NSCLC(166;160 2029 11600 18754 19936) NA 20 88 4.26978e-12 5.33722e-12 0.00333 1 0 OR2L13 284521 broad.mit.edu 37 1 248263535 248263535 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:248263535C>A uc001ids.2 + 3 1195 c.858C>A c.(856-858)CCC>CCA p.P286P NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGCTCAATCCCATTATCTACA 0.493 NA 6 61 2.62144e-13 3.34554e-13 0.004482 1 0 OR2T12 127064 broad.mit.edu 37 1 248457981 248457981 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:248457981T>A uc010pzj.1 - 1 900 c.900A>T c.(898-900)AAA>AAT p.K300N NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCAGCCACCGTTTCAGGGCTT 0.453 NA 17 220 0 0 0.008871 0 0 FAM171A1 221061 broad.mit.edu 37 10 15326063 15326063 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:15326063G>T uc001iob.2 - 2 146 c.139C>A c.(139-141)CAG>AAG p.Q47K NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 47 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GCTACGGGCTGGTGGGTGCTG 0.532 NA 24 88 5.24475e-26 7.97639e-26 0.004656 1 0 ITGA8 8516 broad.mit.edu 37 10 15573137 15573137 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:15573137G>A uc001ioc.1 - 28 2894 c.2894C>T c.(2893-2895)CCC>CTC p.P965L ITGA8_uc010qcb.1_Missense_Mutation_p.P950L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 965 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAGAGCATAGGGATCATTTTT 0.323 NA 36 98 0 0 0.005524 0 0 GPR158 57512 broad.mit.edu 37 10 25886829 25886829 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:25886829T>C uc001isj.2 + 11 2334 c.2274T>C c.(2272-2274)ATT>ATC p.I758I GPR158_uc001isk.2_Silent_p.I133I NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 758 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TGAGACGCATTACGGAGATCC 0.522 NA 28 124 0 0 0.007291 0 0 ZNF248 57209 broad.mit.edu 37 10 38120804 38120804 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:38120804T>C uc001izd.1 - 6 1978 c.1479A>G c.(1477-1479)ATA>ATG p.I493M ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.I493M NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 493 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTCATTACATATAAACGGTT 0.433 NA 27 73 0 0 0.008361 0 0 SLC18A3 6572 broad.mit.edu 37 10 50818982 50818983 + Missense_Mutation DNP GG GG TT TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:50818982_50818983GG>TT uc001jhw.2 + 1 636_637 c.196_197GG>TT c.(196-198)GGG>TTG p.G66L CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 66 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCACATGCGCGGGGGCGGCGAG 0.673 NA 5 18 0 0 0.004672 0 0 DDX50 79009 broad.mit.edu 37 10 70666761 70666761 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:70666761G>T uc001jou.2 + 2 489 c.382G>T c.(382-384)GAG>TAG p.E128* DDX50_uc001jot.2_Nonsense_Mutation_p.E128*|DDX50_uc010qjc.1_Nonsense_Mutation_p.E128* NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 128 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 TAAACTAGAGGAGGTATGGAA 0.274 NA 20 79 2.37509e-13 3.04178e-13 0.010504 1 0 PRF1 5551 broad.mit.edu 37 10 72360447 72360447 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:72360447C>A uc009xqg.2 - 2 373 c.212G>T c.(211-213)GGC>GTC p.G71V PRF1_uc001jrf.3_Missense_Mutation_p.G71V NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 71 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GGTGCAGGTGCCGTCGGGCCG 0.697 NA M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 28 55 6.00712e-18 8.3687e-18 0.012213 1 0 CDHR1 92211 broad.mit.edu 37 10 85961589 85961589 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:85961589C>A uc001kcv.2 + 7 552 c.552C>A c.(550-552)GAC>GAA p.D184E CDHR1_uc001kcw.2_Missense_Mutation_p.D184E|CDHR1_uc009xst.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 184 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TTGCCGTGGACCGCCACAGCG 0.617 NA 15 41 9.16793e-09 1.07253e-08 0.00499 1 0 BTAF1 9044 broad.mit.edu 37 10 93695424 93695424 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:93695424C>T uc001khr.2 + 2 123 c.25C>T c.(25-27)CTT>TTT p.L9F BTAF1_uc009xua.1_RNA NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 9 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) GCTAGATCGCCTTTTTATTTT 0.373 NA 14 41 0 0 0.00245 0 0 SORCS1 114815 broad.mit.edu 37 10 108371774 108371774 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:108371774G>T uc001kym.2 - 22 2936 c.2928C>A c.(2926-2928)TTC>TTA p.F976L SORCS1_uc001kyl.2_Missense_Mutation_p.F976L|SORCS1_uc009xxs.2_Missense_Mutation_p.F976L|SORCS1_uc001kyn.1_Missense_Mutation_p.F976L|SORCS1_uc001kyo.2_Missense_Mutation_p.F976L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 976 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GAAGAGACCGGAATTCCTCTG 0.443 NA 13 62 6.72482e-11 8.23678e-11 0.003163 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355764 118355764 + Silent SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:118355764T>A uc001lco.1 + 6 522 c.504T>A c.(502-504)ATT>ATA p.I168I PNLIPRP1_uc001lcp.2_Silent_p.I168I|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 168 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) TTCACCTCATTGGCCACAGCC 0.483 NA 219 280 0 0 0.00361 0 0 LRRC27 80313 broad.mit.edu 37 10 134188652 134188652 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:134188652G>A uc010quw.1 + 11 1694 c.1499G>A c.(1498-1500)GGA>GAA p.G500E LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.G500E|LRRC27_uc001llj.2_Missense_Mutation_p.G438E NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 500 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCCCTCACTGGAAACCTTTCG 0.468 NA 4 74 0 0 0.001168 0 0 FRG2B 441581 broad.mit.edu 37 10 135438905 135438905 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:135438905C>G uc010qvg.1 - 4 588 c.535G>C c.(535-537)GTG>CTG p.V179L NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 179 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ATAGCTCGCACAGAGGTCACC 0.562 NA 7 344 0 0 0.012319 0 0 MUC2 4583 broad.mit.edu 37 11 1080962 1080962 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:1080962T>A uc001lsx.1 + 10 1373 c.1346T>A c.(1345-1347)CTG>CAG p.L449Q NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 449 VWFD 2. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACGGTGGTGCTGCTGGCTGAC 0.647 NA 37 49 0 0 0.00874 0 0 PGAP2 27315 broad.mit.edu 37 11 3845193 3845193 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:3845193C>T uc001lys.2 + 4 555 c.429C>T c.(427-429)GGC>GGT p.G143G PGAP2_uc001lyl.2_Silent_p.G100G|PGAP2_uc010qxw.1_Silent_p.G200G|PGAP2_uc010qxx.1_Missense_Mutation_p.P124S|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Silent_p.G139G|PGAP2_uc010qxz.1_Silent_p.G139G|PGAP2_uc001lyn.3_Missense_Mutation_p.P36S|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.G82G|PGAP2_uc010qyb.1_Missense_Mutation_p.P86S|PGAP2_uc001lyt.2_5'UTR NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN FGF receptor activating protein 1 isoform 1 143 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity 0 TCTGCATCGGCCTGCACTCGG 0.642 NA 17 129 0 0 0.006122 0 0 OR51D1 390038 broad.mit.edu 37 11 4661687 4661687 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:4661687G>T uc010qyk.1 + 1 667 c.667G>T c.(667-669)GAC>TAC p.D223Y NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGGGTGTGGACTCTCTCTT 0.493 NA 30 117 1.22674e-20 1.78391e-20 0.00874 1 0 ARFIP2 23647 broad.mit.edu 37 11 6500372 6500372 + Nonsense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:6500372T>A uc001mdk.2 - 4 450 c.313A>T c.(313-315)AAG>TAG p.K105* ARFIP2_uc001mdl.2_Nonsense_Mutation_p.K105*|ARFIP2_uc010ral.1_Nonsense_Mutation_p.K67*|ARFIP2_uc010ram.1_Intron|ARFIP2_uc010ran.1_Nonsense_Mutation_p.K138*|ARFIP2_uc001mdm.2_RNA|ARFIP2_uc009yfe.1_3'UTR|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank NM_012402 NP_036534 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 105 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATCCTACCTTATAGGTGTTG 0.488 Melanoma(119;796 1674 9049 20480 24794) NA 23 92 0 0 0.003954 0 0 OR10A3 26496 broad.mit.edu 37 11 7960643 7960643 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:7960643A>G uc010rbi.1 - 1 425 c.425T>C c.(424-426)ATG>ACG p.M142T NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACTAATTTCATAAAAACCCC 0.423 NA 4 100 0 0 0.000602 0 0 RIC3 79608 broad.mit.edu 37 11 8161742 8161742 + Splice_Site SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:8161742T>A uc001mgd.2 - 2 179 c.125_splice c.e2-1 p.G42_splice RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Splice_Site_p.G42_splice|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Splice_Site|RIC3_uc010rbm.1_Splice_Site_p.G42_splice|RIC3_uc009yfm.2_Splice_Site_p.G42_splice|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Intron NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CCAATTTTCCTGAGAAAATAA 0.428 NA 6 36 0 0 0.001984 0 0 KIF18A 81930 broad.mit.edu 37 11 28106288 28106288 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:28106288C>A uc001msc.2 - 7 1147 c.965G>T c.(964-966)GGA>GTA p.G322V NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 322 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 TTGACAGTTTCCTCCAAGAGA 0.368 NA 16 63 3.45872e-05 3.71303e-05 0.004007 1 0 ELP4 26610 broad.mit.edu 37 11 31669325 31669325 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:31669325G>T uc001mtb.2 + 8 999 c.964G>T c.(964-966)GAT>TAT p.D322Y ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.D322Y|ELP4_uc010rdz.1_Missense_Mutation_p.D323Y NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 322 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) AACCTTGTCAGATGTAGTAGT 0.323 NA 14 46 1.37285e-15 1.84905e-15 0.004007 1 0 OR5I1 10798 broad.mit.edu 37 11 55703060 55703060 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:55703060C>T uc010ris.1 - 1 817 c.817G>A c.(817-819)GAT>AAT p.D273N NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 273 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATAATTTTATCAGTGTTTGGA 0.408 NA 5 18 0 0 0.00308 0 0 OR8J3 81168 broad.mit.edu 37 11 55904471 55904471 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:55904471C>T uc010riz.1 - 1 724 c.724G>A c.(724-726)GCT>ACT p.A242T NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ATATGCGAAGCGCAGGTGGAA 0.393 NA 14 50 0 0 0.007413 0 0 MS4A2 2206 broad.mit.edu 37 11 59857910 59857910 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:59857910T>G uc001nop.2 + 3 390 c.288T>G c.(286-288)TTT>TTG p.F96L MS4A2_uc009ymu.2_Missense_Mutation_p.F96L NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 96 Extracellular (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) TTTCATCATTTAAAGCAGGTT 0.338 NA 27 74 0 0 0.007291 0 0 STIP1 10963 broad.mit.edu 37 11 63964764 63964764 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:63964764G>A uc001nyk.1 + 6 841 c.694G>A c.(694-696)GGG>AGG p.G232R STIP1_uc010rnb.1_Missense_Mutation_p.G208R NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 232 Bipartite nuclear localization signal (Potential).|TPR 4. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 AAAAGAGCTGGGGAACGATGC 0.433 NA 17 43 0 0 0.008871 0 0 NRXN2 9379 broad.mit.edu 37 11 64402833 64402833 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:64402833C>A uc001oap.2 - 3 868 c.357G>T c.(355-357)CTG>CTT p.L119L NRXN2_uc001oar.2_Silent_p.L1165L|NRXN2_uc001oas.2_Silent_p.L1125L|NRXN2_uc001oaq.2_Silent_p.L832L NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 119 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 AGCCCACGGCCAGGCGATCCA 0.652 NA 18 49 4.35082e-09 5.156e-09 0.010504 1 0 ZNHIT2 741 broad.mit.edu 37 11 64884413 64884413 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:64884413G>A uc001ocw.2 - 1 758 c.713C>T c.(712-714)TCT>TTT p.S238F uc009yqb.1_Missense_Mutation_p.R95K NM_014205 NP_055020 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT domain containing 2 238 metal ion binding breast(1) 1 ACAGAAGTCAGAGAGCAGCGC 0.662 NA 6 19 0 0 0.001984 0 0 GAL 51083 broad.mit.edu 37 11 68455487 68455487 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:68455487G>A uc001oob.2 + 4 360 c.142G>A c.(142-144)GTT>ATT p.V48I NM_015973 NP_057057 P22466 GALA_HUMAN galanin preproprotein 48 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity 0 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) AACAGATGCCGTTGGCAACCA 0.572 NA 17 47 0 0 0.008871 0 0 PPFIA1 8500 broad.mit.edu 37 11 70221071 70221071 + Missense_Mutation SNP A A C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:70221071A>C uc001opo.2 + 24 3385 c.3187A>C c.(3187-3189)ATT>CTT p.I1063L PPFIA1_uc001opn.1_Missense_Mutation_p.I1063L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.I202L|PPFIA1_uc001ops.2_Missense_Mutation_p.I102L|uc001opt.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 1063 SAM 3. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GATCCTGTCAATTGGCCTTAA 0.423 NA 20 104 0 0 0.010504 0 0 CLPB 81570 broad.mit.edu 37 11 72028186 72028186 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:72028186T>C uc001osj.2 - 8 1092 c.1042A>G c.(1042-1044)ATT>GTT p.I348V CLPB_uc010rqx.1_Missense_Mutation_p.I303V|CLPB_uc010rqy.1_Missense_Mutation_p.I289V|CLPB_uc001osk.2_Missense_Mutation_p.I318V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.I147V NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 348 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TCCTGGCCAATGATGTGCTCC 0.612 NA 55 143 0 0 0.00361 0 0 ROBO3 64221 broad.mit.edu 37 11 124744018 124744018 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:124744018A>G uc001qbc.2 + 12 2029 c.1837A>G c.(1837-1839)ACA>GCA p.T613A ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 613 Fibronectin type-III 1.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCAGCTGGAGACACACACAGT 0.587 NA 49 209 0 0 0.00361 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715944 13715944 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:13715944T>G uc001rbt.2 - 13 4407 c.4228A>C c.(4228-4230)ACG>CCG p.T1410P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1410 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGCCACCGTGGGCTGCCTG 0.632 NA 27 35 0 0 0.009535 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457403 21457403 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:21457403T>C uc001rer.2 - 5 798 c.547A>G c.(547-549)ATA>GTA p.I183V SLCO1A2_uc001res.2_Missense_Mutation_p.I183V|SLCO1A2_uc010siq.1_Missense_Mutation_p.I51V|SLCO1A2_uc010sio.1_Missense_Mutation_p.I51V|SLCO1A2_uc010sip.1_Missense_Mutation_p.I51V|SLCO1A2_uc001ret.2_Missense_Mutation_p.I181V|SLCO1A2_uc001reu.2_Missense_Mutation_p.I163V NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 183 Helical; Name=4; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 AAATCTTCTATATAGGAAATA 0.328 NA 33 43 0 0 0.012213 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 8 0.00307968 0.00322087 0.00308 1 0 ANO6 196527 broad.mit.edu 37 12 45795743 45795743 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:45795743A>G uc001roo.2 + 13 1887 c.1552A>G c.(1552-1554)ATA>GTA p.I518V ANO6_uc010sld.1_Missense_Mutation_p.I518V|ANO6_uc010sle.1_Missense_Mutation_p.I518V|ANO6_uc010slf.1_Missense_Mutation_p.I539V|ANO6_uc010slg.1_Missense_Mutation_p.I500V NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 518 Helical; (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 CATCAGCTTTATAATTATCAT 0.388 NA 20 133 0 0 0.008871 0 0 SP7 121340 broad.mit.edu 37 12 53722173 53722173 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53722173C>T uc001sct.2 - 2 1160 c.1053G>A c.(1051-1053)GAG>GAA p.E351E SP7_uc001scu.2_Silent_p.E333E|SP7_uc001scv.2_Silent_p.E351E NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAACTTCTTCTCCCGGGTGT 0.617 NA OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 69 0 0 0.00361 0 0 MAP3K12 7786 broad.mit.edu 37 12 53875772 53875772 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53875772C>T uc001sdm.1 - 14 2532 c.2434G>A c.(2434-2436)GAA>AAA p.E812K MAP3K12_uc001sdn.1_Missense_Mutation_p.E845K NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 812 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GAGCTGGGTTCAGGGCCAGGG 0.562 NA OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 114 0 0 0.00361 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876414 53876414 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53876414G>T uc001sdm.1 - 12 2172 c.2074C>A c.(2074-2076)CGG>AGG p.R692R MAP3K12_uc001sdn.1_Silent_p.R725R NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 692 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GACCCAGCCCGGCTTCCTCCC 0.627 NA 124 195 9.48018e-61 1.57285e-60 0.00361 1 0 PPM1H 57460 broad.mit.edu 37 12 63042381 63042381 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:63042381G>T uc001srk.3 - 10 1582 c.1433C>A c.(1432-1434)GCC>GAC p.A478D NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 478 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CACACCCCGGGCACGCATCAC 0.517 NA 17 63 1.96292e-10 2.3568e-10 0.010504 1 0 GRIP1 23426 broad.mit.edu 37 12 66786504 66786504 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:66786504T>G uc001stk.2 - 17 2307 c.2066A>C c.(2065-2067)CAG>CCG p.Q689P GRIP1_uc010sta.1_Missense_Mutation_p.Q633P|GRIP1_uc001stj.2_Missense_Mutation_p.Q471P|GRIP1_uc001stl.1_Missense_Mutation_p.Q581P|GRIP1_uc001stm.2_Missense_Mutation_p.Q689P NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 741 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCTGCCATCTGTAACAAATG 0.438 NA 28 169 0 0 0.012213 0 0 LGR5 8549 broad.mit.edu 37 12 71978097 71978097 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:71978097C>T uc001swl.2 + 18 2355 c.2307C>T c.(2305-2307)GCC>GCT p.A769A LGR5_uc001swm.2_Silent_p.A745A|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 769 Helical; Name=6; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 AACACATTGCCCTGTTGCTCT 0.433 NA 104 143 0 0 0.00361 0 0 USP44 84101 broad.mit.edu 37 12 95927916 95927916 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:95927916C>A uc001teg.2 - 2 261 c.117G>T c.(115-117)TGG>TGT p.W39C USP44_uc001teh.2_Missense_Mutation_p.W39C|USP44_uc009zte.2_Missense_Mutation_p.W36C NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 39 UBP-type. anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 TAAGGCAAGCCCAAATGGACT 0.507 NA OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 125 2.65835e-16 3.59369e-16 0.007291 1 0 SVOP 55530 broad.mit.edu 37 12 109332689 109332689 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:109332689G>T uc010sxh.1 - 8 983 c.811C>A c.(811-813)CAG>AAG p.Q271K NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 271 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 GCCTTTTCCTGGTTCCCTGAC 0.557 NA 128 139 4.09656e-53 6.73534e-53 0.00361 1 0 C12orf51 283450 broad.mit.edu 37 12 112654685 112654685 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:112654685C>A uc009zwc.2 - 40 6029 c.6011G>T c.(6010-6012)GGA>GTA p.G2004V C12orf51_uc001ttr.1_Missense_Mutation_p.G179V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 ATCGGTGTCTCCATAGGAAAC 0.507 NA 28 121 8.58068e-18 1.18634e-17 0.007291 1 0 GCN1L1 10985 broad.mit.edu 37 12 120613618 120613618 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:120613618G>C uc001txo.2 - 11 986 c.973C>G c.(973-975)CTG>GTG p.L325V NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 325 HEAT 2. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCGTGCCAGGTTCCGCAGT 0.572 NA 21 31 0 0 0.00278 0 0 ZNF664 144348 broad.mit.edu 37 12 124496938 124496938 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:124496938G>T uc001ufz.2 + 6 2077 c.247G>T c.(247-249)GTG>TTG p.V83L ZNF664_uc001uga.2_Missense_Mutation_p.V83L|ZNF664_uc001ugb.2_Missense_Mutation_p.V83L NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) AATCCACACAGTGGAGAAGCC 0.388 NA 70 88 1.58458e-29 2.47168e-29 0.00361 1 0 TMEM132B 114795 broad.mit.edu 37 12 125834059 125834059 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:125834059C>T uc001uhe.1 + 2 122 c.114C>T c.(112-114)CTC>CTT p.L38L NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 38 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGCTTACCTCCCCACGAACT 0.507 NA 40 235 0 0 0.007835 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559341 129559341 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:129559341G>T uc009zyl.1 - 9 2707 c.2379C>A c.(2377-2379)ATC>ATA p.I793I TMEM132D_uc001uia.2_Silent_p.I331I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 793 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATTTAACTTTGATGTTTGCCG 0.483 NA 94 144 2.68873e-43 4.36172e-43 0.00361 1 0 GPR133 283383 broad.mit.edu 37 12 131590398 131590398 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:131590398C>G uc001uit.3 + 17 2434 c.1875C>G c.(1873-1875)CTC>CTG p.L625L GPR133_uc010tbm.1_Silent_p.L657L|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.L144L|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 625 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GTTTCCGCCTCGAGCCGGGCA 0.632 NA 8 16 0 0 0.008291 0 0 C13orf26 122046 broad.mit.edu 37 13 31513891 31513891 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:31513891C>T uc001uti.2 + 2 141 c.122C>T c.(121-123)ACA>ATA p.T41I NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 41 ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) ACGCCTAAAACAGGAGCAGTG 0.383 NA 9 38 0 0 0.004482 0 0 PDS5B 23047 broad.mit.edu 37 13 33344830 33344830 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:33344830A>T uc010abf.2 + 33 4261 c.4103A>T c.(4102-4104)CAG>CTG p.Q1368L PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1368 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GAATCCACACAGTCCACACCA 0.368 NA 4 20 0 0 0.001984 0 0 FREM2 341640 broad.mit.edu 37 13 39261752 39261752 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:39261752C>T uc001uwv.2 + 1 580 c.271C>T c.(271-273)CCC>TCC p.P91S NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 91 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGGCTGGATCCCCTGCATGA 0.692 NA 16 17 0 0 0.00499 0 0 MYCBP2 23077 broad.mit.edu 37 13 77656020 77656020 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:77656020T>G uc001vkf.2 - 65 11122 c.11031A>C c.(11029-11031)GAA>GAC p.E3677D MYCBP2_uc010aev.2_Missense_Mutation_p.E3081D|MYCBP2_uc001vke.2_Missense_Mutation_p.E297D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAAAACTCTCTTCACTATCGC 0.373 NA 25 64 0 0 0.00333 0 0 STK24 8428 broad.mit.edu 37 13 99127205 99127205 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:99127205C>T uc001vnm.1 - 5 738 c.503G>A c.(502-504)GGC>GAC p.G168D STK24_uc001vnn.1_Missense_Mutation_p.G156D|STK24_uc010tim.1_Missense_Mutation_p.G137D NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 168 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTTCACCTCGCCATGCTCAGA 0.617 NA 3 24 0 0 0.00308 0 0 OR11H12 440153 broad.mit.edu 37 14 19378076 19378076 + Silent SNP A A C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:19378076A>C uc010tkp.1 + 1 483 c.483A>C c.(481-483)ATA>ATC p.I161I NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AACTGGTCATACTGTGCTGGG 0.473 NA 6 336 0 0 0.00245 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216428 20216428 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:20216428C>A uc010tkt.1 + 1 842 c.842C>A c.(841-843)CCT>CAT p.P281H NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGATTACACCTATGTTGAAC 0.418 NA 26 239 1.42536e-11 1.76957e-11 0.004656 1 0 OR4N5 390437 broad.mit.edu 37 14 20612554 20612554 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:20612554C>T uc010tla.1 + 1 660 c.660C>T c.(658-660)GTC>GTT p.V220V NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CCTATGCAGTCATCCTCTGTC 0.507 NA 33 105 0 0 0.010818 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746238 23746238 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:23746238T>A uc001wja.2 - 2 347 c.199A>T c.(199-201)AAT>TAT p.N67Y HOMEZ_uc001wjb.2_Missense_Mutation_p.N69Y NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 67 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) AGGTGTTCATTGCTGTCTAGC 0.527 NA 23 92 0 0 0.00278 0 0 RNF31 55072 broad.mit.edu 37 14 24620512 24620512 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:24620512C>G uc001wmn.1 + 9 1910 c.1661C>G c.(1660-1662)GCC>GGC p.A554G RNF31_uc001wml.1_Missense_Mutation_p.A403G|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.A313G|RNF31_uc001wmo.1_Missense_Mutation_p.A21G|RNF31_uc001wmp.2_RNA NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 554 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) TGTCAGGAGGCCCGGAGAGCC 0.602 NA 22 63 0 0 0.00278 0 0 RNF31 55072 broad.mit.edu 37 14 24620762 24620762 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:24620762A>T uc001wmn.1 + 10 2055 c.1806A>T c.(1804-1806)GGA>GGT p.G602G RNF31_uc001wml.1_Silent_p.G451G|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.G361G|RNF31_uc001wmo.1_Silent_p.G69G|RNF31_uc001wmp.2_RNA NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 602 Interaction with RBCK1.|UBA. 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) TCCAGCACGGAGGTGATGTGT 0.637 NA 17 58 0 0 0.007413 0 0 INSM2 84684 broad.mit.edu 37 14 36004201 36004201 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:36004201C>A uc001wth.1 + 1 954 c.743C>A c.(742-744)GCG>GAG p.A248E NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) GAGCCCGGAGCGCCGTCCCGG 0.642 NA 15 36 1.96895e-08 2.28148e-08 0.00278 1 0 SOS2 6655 broad.mit.edu 37 14 50649236 50649236 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:50649236G>A uc001wxs.3 - 6 901 c.803C>T c.(802-804)ACT>ATT p.T268I SOS2_uc010tql.1_Missense_Mutation_p.T268I|SOS2_uc001wxt.2_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 268 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GCTTTCATCAGTCATTTCAAC 0.338 NA 14 40 0 0 0.004007 0 0 FRMD6 122786 broad.mit.edu 37 14 52186866 52186866 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:52186866C>T uc001wzd.2 + 11 1403 c.1118C>T c.(1117-1119)GCG>GTG p.A373V FRMD6_uc001wzb.2_Missense_Mutation_p.A365V|FRMD6_uc001wzc.2_Missense_Mutation_p.A365V|FRMD6_uc001wze.2_Missense_Mutation_p.A296V|FRMD6_uc001wzf.2_Missense_Mutation_p.A66V|FRMD6_uc001wzg.2_Missense_Mutation_p.A15V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 373 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGGAGCAGTGCGGGCAGCATG 0.607 NA 12 46 0 0 0.010729 0 0 C14orf37 145407 broad.mit.edu 37 14 58471506 58471506 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:58471506C>T uc001xdc.2 - 8 2384 c.2273G>A c.(2272-2274)AGC>AAC p.S758N C14orf37_uc010tro.1_Missense_Mutation_p.S796N|C14orf37_uc001xdd.2_Missense_Mutation_p.S757N NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 758 Cytoplasmic (Potential). integral to membrane binding 0 ATCTTGCATGCTGTTGAATTC 0.388 NA 29 116 0 0 0.007291 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68272236 68272236 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:68272236C>A uc001xka.2 - 7 1256 c.1117G>T c.(1117-1119)GGC>TGC p.G373C ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.G373C|ZFYVE26_uc010tta.1_Missense_Mutation_p.G373C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 373 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGTGTCCAGCCCAGGAGTACA 0.532 NA 29 69 1.45844e-13 1.8744e-13 0.002836 1 0 DPF3 8110 broad.mit.edu 37 14 73220047 73220047 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:73220047C>G uc001xnc.2 - 3 239 c.226G>C c.(226-228)GCC>CCC p.A76P DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.A76P|DPF3_uc010ttq.1_Missense_Mutation_p.A86P NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 76 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CAGCAGCGGGCAGGGTATGTA 0.468 NA 4 23 0 0 0.001168 0 0 NRXN3 9369 broad.mit.edu 37 14 79175581 79175581 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:79175581A>T uc001xun.2 + 4 615 c.124A>T c.(124-126)ATC>TTC p.I42F NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.I176F NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 415 Laminin G-like 2.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAATAATGACATCCGTCTGGA 0.468 NA 16 57 0 0 0.010504 0 0 KCNK10 54207 broad.mit.edu 37 14 88652442 88652442 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:88652442G>T uc001xwo.2 - 7 1511 c.1054C>A c.(1054-1056)CGG>AGG p.R352R KCNK10_uc001xwm.2_Silent_p.R357R|KCNK10_uc001xwn.2_Silent_p.R357R NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 352 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CGTGTCTCCCGGAACTCAGCC 0.622 NA 3 17 0.000157383 0.000166991 0.00308 1 0 KCNK10 54207 broad.mit.edu 37 14 88729728 88729728 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:88729728A>G uc001xwo.2 - 2 662 c.205T>C c.(205-207)TGG>CGG p.W69R KCNK10_uc001xwm.2_Missense_Mutation_p.W74R|KCNK10_uc001xwn.2_Missense_Mutation_p.W74R NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 69 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 ACCGTCTTCCACTTCATGACG 0.592 NA 20 88 0 0 0.002299 0 0 BCL11B 64919 broad.mit.edu 37 14 99724120 99724120 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:99724120C>T uc001yga.2 - 2 382 c.115G>A c.(115-117)GAG>AAG p.E39K BCL11B_uc001ygb.2_Missense_Mutation_p.E39K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 39 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CTTGGCTCCTCTATCTCCAGA 0.587 NA T TLX3 T-ALL 16 36 0 0 0.006122 0 0 DIO3 1735 broad.mit.edu 37 14 102028496 102028497 + Missense_Mutation DNP CC CC AA TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:102028496_102028497CC>AA uc010txq.1 + 2 809_810 c.585_586CC>AA c.(583-588)AGCCTG>AGAATG p.195_196SL>RM DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 195_196 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) AGCACCGGAGCCTGGAGGACCG 0.649 NA 41 178 0 0 0.004672 0 0 GOLGA8C 729786 broad.mit.edu 37 15 20777905 20777905 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:20777905C>T uc010tzc.1 + 18 2161 c.1146C>T c.(1144-1146)GAC>GAT p.D382D uc001ytq.2_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 GCCTCACTGACAGCGTGGAGC 0.637 NA 5 53 0 0 0.000602 0 0 GABRA5 2558 broad.mit.edu 37 15 27185181 27185181 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:27185181C>A uc001zbd.1 + 10 1173 c.834C>A c.(832-834)TCC>TCA p.S278S GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 278 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CACAGGTGTCCTTTTGGCTGA 0.507 NA 10 36 1.58986e-06 1.76383e-06 0.008291 1 0 MGA 23269 broad.mit.edu 37 15 42041781 42041781 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:42041781G>T uc010ucy.1 + 17 6157 c.5976G>T c.(5974-5976)AAG>AAT p.K1992N MGA_uc010ucz.1_Missense_Mutation_p.K1783N|MGA_uc010uda.1_Missense_Mutation_p.K608N|MGA_uc001zoi.2_Missense_Mutation_p.K206N NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1953 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAACGAAGAAGGTTCTACAGT 0.413 NA 23 51 6.32553e-13 8.01673e-13 0.004656 1 0 DUOX2 50506 broad.mit.edu 37 15 45391598 45391598 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:45391598G>T uc010bea.2 - 26 3701 c.3498C>A c.(3496-3498)AAC>AAA p.N1166K DUOX2_uc001zun.2_Missense_Mutation_p.N1166K NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1166 Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCACAAAGACGTTGGGGAATA 0.483 NA 16 39 4.75885e-15 6.27069e-15 0.00499 1 0 SEMA6D 80031 broad.mit.edu 37 15 48063266 48063266 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:48063266G>T uc010bek.2 + 19 2866 c.2506G>T c.(2506-2508)GAC>TAC p.D836Y SEMA6D_uc001zvw.2_Missense_Mutation_p.D774Y|SEMA6D_uc001zvy.2_Missense_Mutation_p.D836Y|SEMA6D_uc001zvz.2_Missense_Mutation_p.D780Y|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.D774Y|SEMA6D_uc001zwc.2_Missense_Mutation_p.D761Y NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 836 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGCTACCCATGACTACAACAC 0.443 NA 40 93 1.57019e-19 2.2214e-19 0.007835 1 0 CEP152 22995 broad.mit.edu 37 15 49030736 49030736 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:49030736C>A uc001zwy.2 - 26 4709 c.4675G>T c.(4675-4677)GGT>TGT p.G1559C CEP152_uc001zwz.2_Missense_Mutation_p.G1615C NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1559 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GAAAGATAACCGGATGGTGAA 0.378 NA 16 53 2.94398e-08 3.38976e-08 0.007413 1 0 MYO9A 4649 broad.mit.edu 37 15 72146723 72146723 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:72146723T>C uc002atl.3 - 35 6814 c.6341A>G c.(6340-6342)GAT>GGT p.D2114G MYO9A_uc002atj.2_Missense_Mutation_p.D27G|MYO9A_uc002atk.2_Missense_Mutation_p.D909G NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2114 Phorbol-ester/DAG-type 2.|Tail.|Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTTACCTGTATCTAGACCCTG 0.333 NA 55 152 0 0 0.00361 0 0 MAN2C1 4123 broad.mit.edu 37 15 75652055 75652055 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:75652055C>T uc002baf.2 - 16 1871 c.1854G>A c.(1852-1854)GAG>GAA p.E618E MAN2C1_uc002bag.2_Silent_p.E618E|MAN2C1_uc002bah.2_Silent_p.E618E|MAN2C1_uc010bkk.2_Silent_p.E519E|MAN2C1_uc010umi.1_Silent_p.E400E NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 618 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CAGGACCTGGCTCCCCAGCAC 0.627 NA 15 49 0 0 0.00499 0 0 CSPG4 1464 broad.mit.edu 37 15 75975009 75975009 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:75975009C>G uc002baw.2 - 7 4815 c.4722G>C c.(4720-4722)GTG>GTC p.V1574V NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1574 Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TCTGGGCCGTCACTCGGAAGA 0.632 NA 27 81 0 0 0.005443 0 0 DET1 55070 broad.mit.edu 37 15 89070888 89070888 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:89070888C>T uc002bmr.2 - 3 1365 c.1213G>A c.(1213-1215)GAA>AAA p.E405K DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_Intron|DET1_uc002bmq.2_Missense_Mutation_p.E416K NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 405 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) AACTGAACTTCACTGTGCAGG 0.448 NA 17 40 0 0 0.002299 0 0 MSLNL 401827 broad.mit.edu 37 16 823017 823017 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:823017T>G uc002cjz.1 - 11 2168 c.2168A>C c.(2167-2169)CAG>CCG p.Q723P NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 372 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 GAGCCGCAGCTGATCCTCCGG 0.672 NA 14 149 0 0 0.010504 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802953 24802953 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:24802953G>T uc002dmm.2 + 6 3104 c.2990G>T c.(2989-2991)CGC>CTC p.R997L TNRC6A_uc010bxs.2_Missense_Mutation_p.R744L|TNRC6A_uc010vcc.1_Missense_Mutation_p.R744L|TNRC6A_uc002dmn.2_Missense_Mutation_p.R744L|TNRC6A_uc002dmo.2_Missense_Mutation_p.R744L NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 997 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TCTATACGTCGCAAAATGGAG 0.483 NA 13 73 2.31682e-05 2.49451e-05 0.003163 1 0 KIAA0556 23247 broad.mit.edu 37 16 27772805 27772805 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:27772805G>T uc002dow.2 + 19 3727 c.3703G>T c.(3703-3705)GGC>TGC p.G1235C NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1235 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GGAAGTGGTGGGCAAGGAGGG 0.602 NA 11 55 1.58986e-06 1.76383e-06 0.008291 1 0 SETD1A 9739 broad.mit.edu 37 16 30991099 30991099 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:30991099C>T uc002ead.1 + 14 4678 c.3992C>T c.(3991-3993)CCA>CTA p.P1331L NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1331 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 TTCAGTTCCCCAGCTGATGAG 0.652 NA 4 7 0 0 0.001168 0 0 ITGAX 3687 broad.mit.edu 37 16 31374568 31374568 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:31374568T>A uc002ebu.1 + 14 1650 c.1583T>A c.(1582-1584)CTG>CAG p.L528Q ITGAX_uc002ebt.2_Missense_Mutation_p.L528Q|ITGAX_uc010vfk.1_Missense_Mutation_p.L178Q NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 528 Extracellular (Potential).|FG-GAP 6. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTGACAGTGCTGGGGGATGTG 0.602 NA 62 203 0 0 0.00361 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31484820 31484820 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:31484820C>A uc002ecd.1 + 2 98 c.72C>A c.(70-72)CCC>CCA p.P24P TGFB1I1_uc002ece.1_Silent_p.P7P|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 24 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CAGGGGCTCCCAAAGAGCGCC 0.637 NA 10 54 1.41608e-15 1.90025e-15 0.001855 1 0 GPT2 84706 broad.mit.edu 37 16 46962902 46962902 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:46962902A>G uc002eel.2 + 12 1659 c.1565A>G c.(1564-1566)TAC>TGC p.Y522C GPT2_uc002eem.2_Missense_Mutation_p.Y422C|GPT2_uc002een.2_Missense_Mutation_p.Y165C NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 522 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGGAGAAGTACGCGTGAGGA 0.597 NA 15 43 0 0 0.004007 0 0 ZFHX3 463 broad.mit.edu 37 16 72830619 72830619 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:72830619A>T uc002fck.2 - 9 6635 c.5962T>A c.(5962-5964)TGC>AGC p.C1988S ZFHX3_uc002fcl.2_Missense_Mutation_p.C1074S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1988 C2H2-type 17. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) AACTTGCCGCAGGAGTCACAC 0.433 NA 49 165 0 0 0.00361 0 0 IRF8 3394 broad.mit.edu 37 16 85945192 85945192 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:85945192A>T uc002fjh.2 + 4 432 c.375A>T c.(373-375)GCA>GCT p.A125A IRF8_uc010chp.2_RNA NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 125 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) TAGGCGTGGCAACTGCTGGCT 0.507 NA 7 56 0 0 0.001855 0 0 VPS53 55275 broad.mit.edu 37 17 600720 600720 + Missense_Mutation SNP G G T rs138068150 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:600720G>T uc002frn.2 - 4 370 c.223C>A c.(223-225)CTG>ATG p.L75M VPS53_uc010cjo.1_Missense_Mutation_p.L75M|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.L75M|VPS53_uc002fro.2_Translation_Start_Site|VPS53_uc010cjp.1_Missense_Mutation_p.L75M NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 75 Potential. protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TTGTCATCCAGTCTCCTAGCA 0.378 NA 46 112 2.14674e-31 3.40678e-31 0.00361 1 0 VPS53 55275 broad.mit.edu 37 17 600722 600722 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:600722C>T uc002frn.2 - 4 368 c.221G>A c.(220-222)AGA>AAA p.R74K VPS53_uc010cjo.1_Missense_Mutation_p.R74K|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R74K|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.R74K NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 74 Potential. protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GTCATCCAGTCTCCTAGCAAA 0.383 NA 44 111 0 0 0.00361 0 0 OR1D4 8385 broad.mit.edu 37 17 2966252 2966252 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:2966252G>T uc010vra.1 - 1 704 c.704C>A c.(703-705)TCC>TAC p.S235Y NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 ACGTACATAGGATGTGGTCAT 0.507 NA 12 50 9.31168e-06 1.01154e-05 0.001855 1 0 OR3A4 390756 broad.mit.edu 37 17 3213643 3213643 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:3213643C>A uc002fvi.2 + 1 105 c.39C>A c.(37-39)ACC>ACA p.T13T NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 CAGTTGTGACCAAGTTTGTCC 0.537 NA 28 104 1.30897e-18 1.83759e-18 0.009535 1 0 POLR2A 5430 broad.mit.edu 37 17 7405880 7405880 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:7405880G>A uc002ghf.3 + 16 2850 c.2616G>A c.(2614-2616)ATG>ATA p.M872I NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 872 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) AGTCAGTGATGGTGAAGTACG 0.582 NA 19 63 0 0 0.010504 0 0 POLR2A 5430 broad.mit.edu 37 17 7405883 7405883 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:7405883G>A uc002ghf.3 + 16 2853 c.2619G>A c.(2617-2619)GTG>GTA p.V873V NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 873 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CAGTGATGGTGAAGTACGACG 0.587 NA 20 66 0 0 0.012319 0 0 GAS7 8522 broad.mit.edu 37 17 9820602 9820602 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:9820602C>G uc002gmg.1 - 14 1535 c.1374G>C c.(1372-1374)GAG>GAC p.E458D GAS7_uc010vvc.1_Missense_Mutation_p.E272D|GAS7_uc002gmh.1_Missense_Mutation_p.E318D|GAS7_uc010vvd.1_Missense_Mutation_p.E410D|GAS7_uc002gmi.2_Missense_Mutation_p.E394D|GAS7_uc002gmj.1_Missense_Mutation_p.E398D|GAS7_uc010coh.1_Missense_Mutation_p.E398D NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 458 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TGACCCACAGCTCCCTGTCTT 0.612 NA T MLL AML* 36 95 0 0 0.009718 0 0 MYH13 8735 broad.mit.edu 37 17 10210316 10210316 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:10210316C>A uc002gmk.1 - 36 5325 c.5235G>T c.(5233-5235)GTG>GTT p.V1745V NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1745 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCGAGTTCTCCACCTCTGCCT 0.493 NA 22 67 1.50039e-11 1.85642e-11 0.012319 1 0 MYH8 4626 broad.mit.edu 37 17 10314198 10314198 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:10314198G>T uc002gmm.2 - 15 1578 c.1483C>A c.(1483-1485)CAC>AAC p.H495N uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 495 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ACAAACATGTGGTGGTTGAAA 0.448 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 50 148 2.29192e-23 3.40061e-23 0.00361 1 0 MYO15A 51168 broad.mit.edu 37 17 18058480 18058480 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:18058480G>A uc010vxh.1 + 45 8619 c.8281G>A c.(8281-8283)GTG>ATG p.V2761M MYO15A_uc010vxi.1_Missense_Mutation_p.V25M|MYO15A_uc010vxj.1_Translation_Start_Site|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2761 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GAAGCGGGCCGTGGTCAGCAC 0.632 NA 17 36 0 0 0.00278 0 0 NOS2 4843 broad.mit.edu 37 17 26114745 26114745 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:26114745T>C uc002gzu.2 - 5 690 c.426A>G c.(424-426)CAA>CAG p.Q142Q NOS2_uc010crh.1_Silent_p.Q142Q|NOS2_uc010wab.1_Silent_p.Q142Q NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ATTCGATAGCTTGAGGTAGAA 0.532 NA 66 216 0 0 0.00361 0 0 NOS2 4843 broad.mit.edu 37 17 26114747 26114747 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:26114747G>C uc002gzu.2 - 5 688 c.424C>G c.(424-426)CAA>GAA p.Q142E NOS2_uc010crh.1_Missense_Mutation_p.Q142E|NOS2_uc010wab.1_Missense_Mutation_p.Q142E NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCGATAGCTTGAGGTAGAAGC 0.527 NA 68 220 0 0 0.00361 0 0 CPD 1362 broad.mit.edu 37 17 28791816 28791816 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:28791816A>G uc002hfb.1 + 21 4142 c.4127A>G c.(4126-4128)TAT>TGT p.Y1376C CPD_uc010wbo.1_Missense_Mutation_p.Y1129C|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1376 Cytoplasmic (Potential). proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 GAAACATTATATTCTAGCAAA 0.403 NA 17 56 0 0 0.008871 0 0 TNS4 84951 broad.mit.edu 37 17 38636951 38636951 + Splice_Site SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:38636951C>A uc010cxb.2 - 9 1905 c.1741_splice c.e9+1 p.G581_splice TNS4_uc002huu.3_Intron NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTACCACTCACCCGCAGATTT 0.517 NA 10 60 1.3612e-06 1.51939e-06 0.003163 1 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334304 39334304 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:39334304G>A uc002hwd.2 - 1 157 c.113C>T c.(112-114)CCC>CTC p.P38L NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 38 5.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCAGCTGGGGCGGCAGCA 0.657 NA 20 69 0 0 0.005524 0 0 CRHR1 1394 broad.mit.edu 37 17 43907550 43907550 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:43907550C>A uc010dap.2 + 7 877 c.612C>A c.(610-612)ACC>ACA p.T204T CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.T74T|CRHR1_uc002ijm.2_Silent_p.T175T|CRHR1_uc002ijn.2_Silent_p.T135T|CRHR1_uc010dar.2_Silent_p.T175T|CRHR1_uc010dao.2_Silent_p.T74T|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 204 Extracellular (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TCCAGCTAACCATGAGCCCCG 0.647 Ovarian(110;57 1568 10207 38216 49865) NA 35 72 1.99505e-19 2.81156e-19 0.012213 1 0 AXIN2 8313 broad.mit.edu 37 17 63534419 63534419 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:63534419C>G uc002jfi.2 - 5 1391 c.1102G>C c.(1102-1104)GCC>CCC p.A368P AXIN2_uc010den.1_Missense_Mutation_p.A368P|AXIN2_uc002jfh.2_Missense_Mutation_p.A368P NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 368 Interaction with GSK3B (By similarity). 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 GCAAAGGTGGCGGGTTCCACG 0.627 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 16 67 0 0 0.00499 0 0 PRKCA 5578 broad.mit.edu 37 17 64770156 64770156 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:64770156G>A uc002jfp.1 + 14 1620 c.1576G>A c.(1576-1578)GTC>ATC p.V526I PRKCA_uc002jfo.1_Missense_Mutation_p.V397I NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 526 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGCCTATGGCGTCCTGTTGTA 0.423 NA 15 202 0 0 0.003163 0 0 AZI1 22994 broad.mit.edu 37 17 79182788 79182788 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:79182788T>C uc002jzp.1 - 3 412 c.212A>G c.(211-213)AAC>AGC p.N71S AZI1_uc002jzn.1_Missense_Mutation_p.N71S|AZI1_uc002jzo.1_Missense_Mutation_p.N71S|AZI1_uc010wum.1_Missense_Mutation_p.N71S NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 71 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCTAAGGTTGTTGATGGCCTG 0.592 NA 16 44 0 0 0.010504 0 0 YES1 7525 broad.mit.edu 37 18 724522 724522 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr18:724522C>A uc002kky.2 - 12 1755 c.1534G>T c.(1534-1536)GAC>TAC p.D512Y YES1_uc002kkz.2_Missense_Mutation_p.D512Y NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 512 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) TCATCAGGGTCCTTCTTCCAA 0.448 NA 21 60 1.96292e-10 2.3568e-10 0.010504 1 0 SOCS6 9306 broad.mit.edu 37 18 67993064 67993064 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr18:67993064G>A uc002lkr.1 + 2 1476 c.1160G>A c.(1159-1161)GGA>GAA p.G387E SOCS6_uc010dqq.2_Missense_Mutation_p.G387E NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 387 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TGGTACTGGGGACCAATCACA 0.478 Melanoma(84;1024 1361 24382 36583 42651) NA 27 80 0 0 0.005443 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3664855 3664855 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:3664855C>A uc002lyj.1 - 3 241 c.184G>T c.(184-186)GGT>TGT p.G62C PIP5K1C_uc010xhq.1_Missense_Mutation_p.G62C|PIP5K1C_uc010xhr.1_Missense_Mutation_p.G62C NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 62 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GCGTCCACACCTCGATGGCCC 0.622 Esophageal Squamous(135;99 1744 12852 27186 39851) NA 47 84 9.72345e-25 1.45453e-24 0.00361 1 0 CCDC94 55702 broad.mit.edu 37 19 4267771 4267771 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:4267771G>T uc002lzv.3 + 7 892 c.859G>T c.(859-861)GGA>TGA p.G287* NM_018074 NP_060544 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 287 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CCCCACCCCAGGTAAGGTCAC 0.657 NA OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 8.12818e-05 8.67482e-05 0.001984 1 0 DPP9 91039 broad.mit.edu 37 19 4685763 4685763 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:4685763G>A uc002mba.2 - 17 2164 c.1906C>T c.(1906-1908)CCT>TCT p.P636S NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 607 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ATCTCTGGAGGAACATAATCC 0.627 NA 10 23 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9077163 9077163 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:9077163G>T uc002mkp.2 - 3 10487 c.10283C>A c.(10282-10284)TCT>TAT p.S3428Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3429 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 ATCTGACCAAGAACTAGTTGA 0.458 NA 79 122 3.71121e-27 5.71557e-27 0.00361 1 0 KEAP1 9817 broad.mit.edu 37 19 10600477 10600477 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:10600477T>C uc002moq.1 - 4 1534 c.1378A>G c.(1378-1380)AGG>GGG p.R460G KEAP1_uc002mop.1_Missense_Mutation_p.R178G|KEAP1_uc002mor.1_Missense_Mutation_p.R460G NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 460 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACCCCGATCCTTCGTGTCAGC 0.552 NA 14 24 0 0 0.00499 0 0 ZNF676 163223 broad.mit.edu 37 19 22363270 22363270 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:22363270C>A uc002nqs.1 - 3 1567 c.1249G>T c.(1249-1251)GGA>TGA p.G417* NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGTTTCTCTCCAGTATGAATT 0.433 NA 27 47 1.88708e-17 2.58942e-17 0.008361 1 0 ZNF536 9745 broad.mit.edu 37 19 30934586 30934586 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:30934586C>A uc002nsu.1 + 2 255 c.117C>A c.(115-117)ATC>ATA p.I39I ZNF536_uc010edd.1_Silent_p.I39I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGCACCAGATCACCTCCCAGC 0.657 NA 36 124 1.57019e-19 2.2214e-19 0.007835 1 0 UBA2 10054 broad.mit.edu 37 19 34922808 34922808 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:34922808A>G uc002nvk.2 + 3 335 c.265A>G c.(265-267)ATC>GTC p.I89V UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.2_Translation_Start_Site NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 89 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAAAGCTAATATCGTTGCCTA 0.353 NA 66 195 0 0 0.00361 0 0 SPTBN4 57731 broad.mit.edu 37 19 41081361 41081361 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:41081361G>A uc002ony.2 + 36 7667 c.7581G>A c.(7579-7581)GCG>GCA p.A2527A SPTBN4_uc002onz.2_Silent_p.A2527A|SPTBN4_uc010egx.2_Silent_p.A1270A|SHKBP1_uc002oob.2_5'Flank|SHKBP1_uc002ooc.2_5'Flank|SHKBP1_uc002ood.2_5'Flank|SHKBP1_uc010xvl.1_5'Flank|SHKBP1_uc002ooe.2_5'Flank|SHKBP1_uc002oof.2_5'Flank NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2527 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCGGTGGCGGAACACGCAG 0.592 NA 8 14 0 0 0.008291 0 0 ZNF221 7638 broad.mit.edu 37 19 44470819 44470819 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:44470819A>T uc002oxx.2 + 6 1493 c.1165A>T c.(1165-1167)ACA>TCA p.T389S ZNF221_uc010ejb.1_Missense_Mutation_p.T389S|ZNF221_uc010xws.1_Missense_Mutation_p.T389S NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) GATGGTCCACACAGGAGAGAA 0.413 NA 42 111 0 0 0.007835 0 0 MARK4 57787 broad.mit.edu 37 19 45762388 45762388 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:45762388A>T uc002pbb.1 + 2 198 c.193A>T c.(193-195)ATT>TTT p.I65F MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.I65F Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 65 ATP (By similarity).|Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCTGAGGACCATTGGGAAGGG 0.652 NA 16 43 0 0 0.007413 0 0 KLK7 5650 broad.mit.edu 37 19 51483646 51483646 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:51483646G>T uc002puo.2 - 4 421 c.319C>A c.(319-321)CAG>AAG p.Q107K KLK7_uc002pup.2_Missense_Mutation_p.Q107K|KLK7_uc010yco.1_5'UTR|KLK7_uc010eok.2_Missense_Mutation_p.Q35K NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 107 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) ACATGGGTCTGTGTGGAGTAG 0.592 NA 25 65 1.77063e-15 2.35869e-15 0.005443 1 0 VN1R2 317701 broad.mit.edu 37 19 53762540 53762540 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:53762540C>A uc002qbi.2 + 1 996 c.912C>A c.(910-912)TAC>TAA p.Y304* NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 304 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) ACAATCTCTACCCCAACTCTT 0.483 NA 60 162 6.60958e-23 9.76719e-23 0.00361 1 0 ZNF761 388561 broad.mit.edu 37 19 53952872 53952872 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:53952872T>C uc010eqp.2 + 5 581 c.123T>C c.(121-123)TAT>TAC p.Y41Y ZNF761_uc002qbr.2_RNA|ZNF761_uc010ydy.1_5'UTR|ZNF761_uc002qbs.2_RNA|ZNF761_uc002qbt.1_5'Flank NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TGGAGAATTATAGGAACCTGG 0.433 NA 19 40 0 0 0.00278 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340905 55340905 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:55340905T>A uc002qhk.3 + 7 1153 c.1090T>A c.(1090-1092)TGC>AGC p.C364S KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.C289S|KIR3DL1_uc010esf.2_Missense_Mutation_p.C269S|KIR3DL1_uc010yfo.1_Missense_Mutation_p.C306S|KIR3DL1_uc002qhl.3_Intron NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 364 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) tcatctcTGGTGCTCCAACAA 0.433 NA 39 38 0 0 0.004878 0 0 ZNF135 7694 broad.mit.edu 37 19 58579319 58579319 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:58579319A>G uc010yhq.1 + 5 1599 c.1503A>G c.(1501-1503)ACA>ACG p.T501T ZNF135_uc002qre.2_Silent_p.T489T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T447T|ZNF135_uc002qrg.2_Silent_p.T459T|ZNF135_uc010yhr.1_Silent_p.T310T NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 501 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAATCCACACAGGGGAGAAGC 0.567 NA 15 78 0 0 0.004007 0 0 ZNF135 7694 broad.mit.edu 37 19 58579321 58579321 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:58579321G>T uc010yhq.1 + 5 1601 c.1505G>T c.(1504-1506)GGG>GTG p.G502V ZNF135_uc002qre.2_Missense_Mutation_p.G490V|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.G448V|ZNF135_uc002qrg.2_Missense_Mutation_p.G460V|ZNF135_uc010yhr.1_Missense_Mutation_p.G311V NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 502 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ATCCACACAGGGGAGAAGCCC 0.567 NA 15 78 7.05477e-17 9.60817e-17 0.00499 1 0 PXDN 7837 broad.mit.edu 37 2 1667444 1667444 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:1667444G>A uc002qxa.2 - 12 1564 c.1500C>T c.(1498-1500)TAC>TAT p.Y500Y PXDN_uc002qxb.1_Silent_p.Y500Y NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 500 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCTGGCATTCGTACTGGCCCT 0.602 NA 12 161 0 0 0.001855 0 0 APOB 338 broad.mit.edu 37 2 21230206 21230206 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21230206C>G uc002red.2 - 26 9662 c.9534G>C c.(9532-9534)AAG>AAC p.K3178N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3178 Heparin-binding.|Basic (possible receptor binding region). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTGTTTTTCTTATACTGAG 0.358 NA 26 71 0 0 0.008361 0 0 APOB 338 broad.mit.edu 37 2 21246397 21246397 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21246397G>T uc002red.2 - 17 2732 c.2604C>A c.(2602-2604)AAC>AAA p.N868K NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 868 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAATCTTACGTTGGCTACTT 0.403 NA 26 82 1.74197e-06 1.92673e-06 0.00632 1 0 APOB 338 broad.mit.edu 37 2 21260849 21260849 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21260849G>T uc002red.2 - 5 646 c.518C>A c.(517-519)GCC>GAC p.A173D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 173 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTTGCTTGGCTTCTTCTGT 0.463 NA 39 131 1.00776e-21 1.47723e-21 0.00361 1 0 OTOF 9381 broad.mit.edu 37 2 26691312 26691312 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:26691312C>A uc002rhk.2 - 33 4181 c.4054G>T c.(4054-4056)GAC>TAC p.D1352Y OTOF_uc010yla.1_Missense_Mutation_p.D82Y|OTOF_uc002rhh.2_Missense_Mutation_p.D585Y|OTOF_uc002rhi.2_Missense_Mutation_p.D662Y|OTOF_uc002rhj.2_Missense_Mutation_p.D585Y NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1352 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTCCAAGTCAATTCCAGAG 0.557 GBM(102;732 1451 20652 24062 31372) NA 40 110 3.77016e-25 5.6864e-25 0.013114 1 0 GCKR 2646 broad.mit.edu 37 2 27731038 27731039 + Missense_Mutation DNP CC CC AA TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:27731038_27731039CC>AA uc002rky.2 + 16 1408_1409 c.1342_1343CC>AA c.(1342-1344)CCT>AAT p.P448N GCKR_uc010ezd.2_Missense_Mutation_p.P446N|GCKR_uc010ylu.1_Missense_Mutation_p.P258N NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 448 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TCTCCAGATCCCTCTGAAGAAG 0.535 NA 18 81 0 0 0.004672 0 0 SPAST 6683 broad.mit.edu 37 2 32289089 32289089 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:32289089G>T uc002roc.2 + 1 410 c.189G>T c.(187-189)CTG>CTT p.L63L SPAST_uc002rod.2_Silent_p.L63L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 63 Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTTCGCGCTGCTGCGTTTGG 0.517 NA 13 39 1.5739e-10 1.91491e-10 0.004007 1 0 ABCG5 64240 broad.mit.edu 37 2 44051409 44051409 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:44051409A>G uc002rtn.2 - 8 1207 c.1067T>C c.(1066-1068)TTC>TCC p.F356S ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Missense_Mutation_p.F185S|ABCG5_uc002rtp.2_Intron NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 356 Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTGGTTTTGAAAGGAACCAT 0.378 NA 49 175 0 0 0.00361 0 0 MSH6 2956 broad.mit.edu 37 2 48027856 48027856 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:48027856T>C uc002rwd.3 + 4 2886 c.2734T>C c.(2734-2736)TGG>CGG p.W912R MSH6_uc002rwc.2_Missense_Mutation_p.W912R|MSH6_uc010fbj.2_Missense_Mutation_p.W610R|MSH6_uc010yoi.1_Missense_Mutation_p.W782R|MSH6_uc010yoj.1_Missense_Mutation_p.W610R NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 912 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATTGAACCGATGGGATACAGC 0.418 NA Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 49 121 0 0 0.00361 0 0 GKN1 56287 broad.mit.edu 37 2 69204898 69204898 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:69204898T>A uc002sfc.2 + 3 301 c.238T>A c.(238-240)TAT>AAT p.Y80N NM_019617 NP_062563 Q9NS71 GKN1_HUMAN 18 kDa antrum mucosa protein precursor 80 BRICHOS. digestion|positive regulation of cell division extracellular region breast(1) 1 CATCTGGGATTATGGAAATGT 0.363 NA 27 54 0 0 0.010818 0 0 GNLY 10578 broad.mit.edu 37 2 85924772 85924772 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:85924772G>A uc002sql.3 + 4 527 c.399G>A c.(397-399)GAG>GAA p.E133E GNLY_uc010fgp.2_Silent_p.E118E|GNLY_uc010ysx.1_Silent_p.E160E NM_006433 NP_006424 P22749 GNLY_HUMAN granulysin isoform NKG5 133 Saposin B-type. cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 AGATCTGTGAGGACCTCAGGT 0.542 NA 29 59 0 0 0.009535 0 0 RANBP2 5903 broad.mit.edu 37 2 109399221 109399221 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:109399221G>T uc002tem.3 + 28 9398 c.9272G>T c.(9271-9273)CGG>CTG p.R3091L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 3091 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATTGTTCCTCGGACTGCTGAG 0.408 NA 69 219 4.37588e-27 6.71091e-27 0.00361 1 0 ACOXL 55289 broad.mit.edu 37 2 111556667 111556667 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:111556667G>A uc002tgr.3 + 7 761 c.537G>A c.(535-537)ATG>ATA p.M179I ACOXL_uc010fkc.2_Missense_Mutation_p.M179I|ACOXL_uc010yxk.1_Missense_Mutation_p.M179I NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 179 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 TTGATATGATGTACAAGGAGG 0.502 NA 46 95 0 0 0.00361 0 0 MYO7B 4648 broad.mit.edu 37 2 128389269 128389269 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:128389269G>T uc002top.2 + 37 5165 c.5112G>T c.(5110-5112)CCG>CCT p.P1704P MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1704 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCAGCACCCGGCCCTCCAGG 0.667 NA 5 32 5.9392e-07 6.69077e-07 0.001168 1 0 LOC401010 401010 broad.mit.edu 37 2 132200903 132200903 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:132200903C>G uc002tst.2 - 1 1565 c.1099G>C c.(1099-1101)GGC>CGC p.G367R NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 TCCACCAGGCCGTCCTGGTAC 0.632 NA 10 32 0 0 0.00245 0 0 LRP1B 53353 broad.mit.edu 37 2 142004803 142004803 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:142004803G>A uc002tvj.1 - 5 1556 c.584C>T c.(583-585)GCT>GTT p.A195V LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 195 Extracellular (Potential). 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) ACCAATTTTAGCCTTGCAAGA 0.378 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 15 50 0 0 0.004007 0 0 UBR3 130507 broad.mit.edu 37 2 170871812 170871812 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:170871812G>T uc010zdi.1 + 30 4389 c.4389G>T c.(4387-4389)TTG>TTT p.L1463F UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.L284F|UBR3_uc002uft.3_Missense_Mutation_p.L320F|UBR3_uc010zdj.1_Missense_Mutation_p.L125F|UBR3_uc002ufu.3_5'UTR NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1463 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 AACTTGAATTGATTCATCGAG 0.318 NA 9 20 0.000442599 0.000468257 0.006214 1 0 ITGA6 3655 broad.mit.edu 37 2 173340413 173340413 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:173340413G>A uc002uhp.1 + 8 1472 c.1269G>A c.(1267-1269)CAG>CAA p.Q423Q ITGA6_uc010zdy.1_Silent_p.Q304Q|ITGA6_uc002uho.1_Silent_p.Q423Q|ITGA6_uc010fqm.1_Silent_p.Q69Q NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 462 Extracellular (Potential).|FG-GAP 7. blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AACCAACACAGGTAACCAAAT 0.343 NA 38 97 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179421984 179421984 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:179421984A>T uc010zfg.1 - 278 80525 c.80301T>A c.(80299-80301)GCT>GCA p.A26767A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A20462A|TTN_uc010zfi.1_Silent_p.A20395A|TTN_uc010zfj.1_Silent_p.A20270A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27694 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) ACGTACCACAAGCATCAATTG 0.413 NA 15 35 0 0 0.004007 0 0 FASTKD2 22868 broad.mit.edu 37 2 207631989 207631989 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:207631989T>C uc002vbu.2 + 2 982 c.572T>C c.(571-573)ATT>ACT p.I191T MDH1B_uc010ziw.1_5'Flank|MDH1B_uc002vbs.2_5'Flank|MDH1B_uc010fui.2_5'Flank|MDH1B_uc010fuj.2_5'Flank|MDH1B_uc002vbt.2_5'Flank|FASTKD2_uc002vbv.2_Missense_Mutation_p.I191T|FASTKD2_uc002vbx.2_Missense_Mutation_p.I191T|FASTKD2_uc002vbw.1_Missense_Mutation_p.I191T NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 191 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) ATGTGGACAATTGCCAAAAGA 0.418 NA 63 152 0 0 0.00361 0 0 VIL1 7429 broad.mit.edu 37 2 219295487 219295487 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:219295487G>T uc002via.2 + 10 1053 c.988G>T c.(988-990)GTG>TTG p.V330L VIL1_uc010zke.1_Missense_Mutation_p.V19L|VIL1_uc002vib.2_Missense_Mutation_p.V330L|VIL1_uc002vic.1_Missense_Mutation_p.V330L NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 330 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCACACAGGTGGAGGTGCA 0.567 NA 27 109 4.74835e-14 6.14592e-14 0.010818 1 0 CHRND 1144 broad.mit.edu 37 2 233398943 233398943 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:233398943C>A uc002vsw.2 + 11 1266 c.1262C>A c.(1261-1263)CCA>CAA p.P421Q CHRND_uc010zmg.1_Missense_Mutation_p.P406Q|CHRND_uc010fyc.2_Missense_Mutation_p.P294Q|CHRND_uc010zmh.1_Missense_Mutation_p.P227Q NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 421 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCCGGCCCCCAGCAAGCTCT 0.597 NA 22 56 2.39556e-15 3.16805e-15 0.00278 1 0 C20orf46 55321 broad.mit.edu 37 20 1161882 1161882 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:1161882G>A uc010gaa.1 - 3 600 c.381C>T c.(379-381)CTC>CTT p.L127L C20orf46_uc002weq.1_Silent_p.L127L NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 127 Helical; (Potential). integral to membrane protein binding ovary(1) 1 CCAGGAAAACGAGGGCGGAAA 0.612 NA 39 84 0 0 0.005524 0 0 VPS16 64601 broad.mit.edu 37 20 2846896 2846898 + Nonsense_Mutation TNP CGA CGA ATT rs141400236 byFrequency TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CGA CGA - - CGA CGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:2846896_2846898CGA>ATT uc002whe.2 + 23 2358_2360 c.2310_2312CGA>ATT c.(2308-2313)TACGAA>TAATTA p.770_771YE>*L VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Nonsense_Mutation_p.626_627YE>*L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Nonsense_Mutation_p.456_457YE>*L|VPS16_uc002whi.2_Nonsense_Mutation_p.254_255YE>*L NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 770_771 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 ATAACAAATACGAAGCCAAGAAG 0.547 NA 13 62 0 0 0.004672 0 0 CST9 128822 broad.mit.edu 37 20 23586393 23586393 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:23586393C>A uc002wtl.2 - 1 218 c.109G>T c.(109-111)GGT>TGT p.G37C NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 37 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) TTATTATTACCACCCATTTCC 0.517 NA 52 227 1.4374e-25 2.17697e-25 0.00361 1 0 SUN5 140732 broad.mit.edu 37 20 31587901 31587901 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:31587901T>C uc002wyi.2 - 5 412 c.319A>G c.(319-321)ATT>GTT p.I107V NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 107 spermatogenesis skin(1) 1 AGGAGCAGAATGCCTGTCTTC 0.498 NA 9 21 0 0 0.001368 0 0 PHACTR3 116154 broad.mit.edu 37 20 58322818 58322818 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:58322818G>C uc002yau.2 + 3 753 c.286G>C c.(286-288)GAG>CAG p.E96Q PHACTR3_uc002yat.2_Missense_Mutation_p.E93Q|PHACTR3_uc010zzw.1_Missense_Mutation_p.E55Q|PHACTR3_uc002yav.2_Missense_Mutation_p.E55Q|PHACTR3_uc002yaw.2_Missense_Mutation_p.E55Q|PHACTR3_uc002yax.2_Missense_Mutation_p.E55Q NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 96 RPEL 1. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GGCAGCGCTGGAGAAGAAGAT 0.587 NA 48 187 0 0 0.00361 0 0 C20orf200 253868 broad.mit.edu 37 20 61143804 61143804 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:61143804G>T uc002ycz.1 - 3 535 c.44C>A c.(43-45)TCA>TAA p.S15* C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) CTTGTGTGGTGAACTCCCCTC 0.672 NA 49 155 5.86059e-21 8.55646e-21 0.00361 1 0 DIDO1 11083 broad.mit.edu 37 20 61542643 61542643 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:61542643C>A uc002ydr.1 - 3 586 c.322G>T c.(322-324)GAG>TAG p.E108* DIDO1_uc002yds.1_Nonsense_Mutation_p.E108*|DIDO1_uc002ydt.1_Nonsense_Mutation_p.E108*|DIDO1_uc002ydu.1_Nonsense_Mutation_p.E108*|DIDO1_uc002ydv.1_Nonsense_Mutation_p.E108*|DIDO1_uc002ydw.1_Nonsense_Mutation_p.E108*|DIDO1_uc002ydx.1_Nonsense_Mutation_p.E108*|DIDO1_uc011aao.1_Nonsense_Mutation_p.E108* NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 108 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GAGGCTGTCTCGGCGTCTGTG 0.642 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 10 29 1.5842e-08 1.84739e-08 0.001855 1 0 KCNQ2 3785 broad.mit.edu 37 20 62038665 62038665 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:62038665G>A uc002yey.1 - 17 2128 c.1951C>T c.(1951-1953)CCC>TCC p.P651S KCNQ2_uc002yez.1_Missense_Mutation_p.P620S|KCNQ2_uc002yfa.1_Missense_Mutation_p.P633S|KCNQ2_uc002yfb.1_Missense_Mutation_p.P623S NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 651 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TCTGTCGGGGGGATGCCCATC 0.647 NA 17 58 0 0 0.007413 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296423 28296423 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr21:28296423A>T uc002ymg.2 - 8 3471 c.2742T>A c.(2740-2742)CCT>CCA p.P914P NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 914 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTTGGGAGAGAGGACATCCTT 0.507 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 15 53 0 0 0.003163 0 0 RIPK4 54101 broad.mit.edu 37 21 43161537 43161537 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr21:43161537T>C uc002yzn.1 - 8 1864 c.1816A>G c.(1816-1818)ACG>GCG p.T606A NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 606 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TGCAATGGCGTCCTCCCATCC 0.677 NA 41 125 0 0 0.011902 0 0 EFCAB6 64800 broad.mit.edu 37 22 43936185 43936185 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr22:43936185T>G uc003bdy.1 - 28 3916 c.3701A>C c.(3700-3702)TAC>TCC p.Y1234S EFCAB6_uc003bdz.1_Missense_Mutation_p.Y1082S|EFCAB6_uc010gzi.1_Missense_Mutation_p.Y1082S|EFCAB6_uc010gzj.1_3'UTR NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1234 EF-hand 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GAAGTCCGGGTATTTCAGCCT 0.572 NA 23 50 0 0 0.003954 0 0 GRAMD4 23151 broad.mit.edu 37 22 47058939 47058939 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr22:47058939C>T uc003bhx.2 + 5 508 c.469C>T c.(469-471)CGC>TGC p.R157C GRAMD4_uc010had.2_Missense_Mutation_p.R96C NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 157 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCCTGCAGAGCGCCGGAGCCA 0.677 NA 26 46 0 0 0.003271 0 0 CHL1 10752 broad.mit.edu 37 3 424293 424293 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:424293G>T uc003bou.2 + 17 2338 c.2067G>T c.(2065-2067)GTG>GTT p.V689V CHL1_uc003bot.2_Silent_p.V705V|CHL1_uc003bow.1_Silent_p.V689V|CHL1_uc011asi.1_Silent_p.V705V|uc003box.1_RNA NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 689 Fibronectin type-III 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCATAGCCGTGAACGAAGTAG 0.473 NA 10 41 7.03913e-09 8.26135e-09 0.001368 1 0 GRM7 2917 broad.mit.edu 37 3 7620718 7620718 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:7620718T>A uc003bqm.2 + 8 2399 c.2125T>A c.(2125-2127)TTA>ATA p.L709I GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L709I|GRM7_uc003bql.2_Missense_Mutation_p.L709I|GRM7_uc003bqn.1_Missense_Mutation_p.L292I|GRM7_uc010hch.1_Missense_Mutation_p.L220I NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 709 Helical; Name=4; (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CACTTCCAGTTTAATATCAGT 0.418 NA 5 60 0 0 0.001984 0 0 C3orf32 51066 broad.mit.edu 37 3 8667996 8667996 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:8667996C>A uc003bqu.2 - 9 866 c.620G>T c.(619-621)TGC>TTC p.C207F C3orf32_uc003bqz.2_Missense_Mutation_p.C207F|C3orf32_uc003bqt.2_Missense_Mutation_p.C156F|C3orf32_uc011atg.1_Missense_Mutation_p.C229F|C3orf32_uc003bqv.2_Missense_Mutation_p.C156F|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.C207F NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 207 Cys-rich. skin(1) 1 TCTCCCTGAGCAAGTGCTGCA 0.572 NA 54 131 6.81593e-30 1.06773e-29 0.00361 1 0 SLC6A1 6529 broad.mit.edu 37 3 11060301 11060301 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:11060301G>C uc010hdq.2 + 5 799 c.388G>C c.(388-390)GCT>CCT p.A130P NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 130 Helical; Name=3; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCTTGCGGCTGCTGTGCTATC 0.502 NA 13 28 0 0 0.003954 0 0 TRIM71 131405 broad.mit.edu 37 3 32860298 32860298 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:32860298G>T uc003cff.2 + 1 789 c.726G>T c.(724-726)CCG>CCT p.P242P NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 242 multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 AGCGCGGCCCGCCGGGTCCCG 0.721 NA 14 25 1.56452e-12 1.96914e-12 0.007413 1 0 CCBP2 1238 broad.mit.edu 37 3 42906917 42906917 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:42906917C>T uc003cme.2 + 3 1102 c.923C>T c.(922-924)TCC>TTC p.S308F CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.S308F|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 308 Helical; Name=7; (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) TGCTGCTTTTCCCCCATCCTG 0.577 NA 39 205 0 0 0.009718 0 0 TGM4 7047 broad.mit.edu 37 3 44916184 44916184 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:44916184C>T uc003coc.3 + 1 87 c.14C>T c.(13-15)TCA>TTA p.S5L TGM4_uc003coa.2_Missense_Mutation_p.S5L|TGM4_uc003cob.2_RNA NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 5 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATGGATGCATCAAAAGGTGAG 0.567 NA 14 53 0 0 0.001855 0 0 PRSS50 29122 broad.mit.edu 37 3 46758935 46758935 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:46758935G>T uc003cqe.1 - 2 358 c.299C>A c.(298-300)CCA>CAA p.P100Q PRSS50_uc003cqf.1_Missense_Mutation_p.P14Q NM_013270 NP_037402 Q9UI38 TSP50_HUMAN testes-specific protease 50 precursor 100 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity 0 ACAGCGGTATGGGTCGACTTT 0.617 Pancreas(41;915 1239 11561 17469) NA 28 74 4.74835e-14 6.14592e-14 0.010818 1 0 LAMB2 3913 broad.mit.edu 37 3 49165960 49165961 + Missense_Mutation DNP GC GC CA TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:49165960_49165961GC>CA uc003cwe.2 - 15 2247_2248 c.1948_1949GC>TG c.(1948-1950)GCC>TGC p.A650C LAMB2_uc003cwf.1_Missense_Mutation_p.A650C NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 650 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGGCTGTGGGCAGGCACAGGC 0.589 NA 10 55 0 0 0.004672 0 0 SLC38A3 10991 broad.mit.edu 37 3 50256083 50256083 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:50256083G>T uc003cyn.3 + 13 1236 c.1095G>T c.(1093-1095)CTG>CTT p.L365L NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 365 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TTGACGTCCTGATCCTGTGTG 0.637 NA 10 50 1.76689e-08 2.05387e-08 0.006214 1 0 GRM2 2912 broad.mit.edu 37 3 51743114 51743114 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:51743114C>T uc010hlv.2 + 2 354 c.115C>T c.(115-117)CCA>TCA p.P39S GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 39 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TGGGCTGTTCCCAGTGCACCA 0.642 NA 24 59 0 0 0.00278 0 0 GUCA1C 9626 broad.mit.edu 37 3 108634993 108634993 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:108634993C>G uc003dxj.2 - 3 491 c.423G>C c.(421-423)AAG>AAC p.K141N GUCA1C_uc003dxk.2_Missense_Mutation_p.K141N NM_005459 NP_005450 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 141 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 TTATATCGATCTTATGGAACA 0.413 NSCLC(157;1360 1999 30631 40189 44208) NA 24 93 0 0 0.00632 0 0 DNAJC13 23317 broad.mit.edu 37 3 132218040 132218040 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:132218040C>A uc003eor.2 + 37 4292 c.4227C>A c.(4225-4227)GAC>GAA p.D1409E NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1409 heat shock protein binding ovary(1)|breast(1) 2 CTTCAGATGACCTCCTTTTCT 0.408 NA 23 71 9.57634e-11 1.16902e-10 0.00333 1 0 MME 4311 broad.mit.edu 37 3 154884701 154884701 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:154884701C>A uc010hvr.1 + 18 1882 c.1671C>A c.(1669-1671)GCC>GCA p.A557A MME_uc003fab.1_Silent_p.A557A|MME_uc003fac.1_Silent_p.A557A|MME_uc003fad.1_Silent_p.A557A|MME_uc003fae.1_Silent_p.A557A NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 557 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCTTCCCAGCCGGCATTCTGC 0.408 NA 38 122 1.69901e-12 2.13106e-12 0.005524 1 0 IGF2BP2 10644 broad.mit.edu 37 3 185363402 185363402 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:185363402G>A uc003fpo.2 - 16 1796 c.1717C>T c.(1717-1719)CGC>TGC p.R573C IGF2BP2_uc010hyi.2_Missense_Mutation_p.R516C|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R510C|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R437C|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R467C|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R530C|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R578C NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 573 KH 4. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTGATCTTGCGCTGTGCAGTC 0.577 NA 11 106 0 0 0.001855 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:195511959G>A uc011bto.1 - 2 6952 c.6492C>T c.(6490-6492)ACC>ACT p.T2164T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 45 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577 NA 2 2 0 0 0.004672 0 0 ZNF718 255403 broad.mit.edu 37 4 155375 155375 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:155375A>T uc003fzt.3 + 8 1033 c.900A>T c.(898-900)GAA>GAT p.E300D ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N80I NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 300 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CCCTTAATGAACATAAGAGAA 0.368 NA 6 25 0 0 0.001168 0 0 KIAA1211 57482 broad.mit.edu 37 4 57179457 57179457 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:57179457C>T uc003hbk.2 + 7 840 c.449C>T c.(448-450)GCT>GTT p.A150V KIAA1211_uc010iha.2_Missense_Mutation_p.A143V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A60V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A36V NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 150 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CTGGCCATCGCTCGCCTGGAC 0.552 NA 63 158 0 0 0.00361 0 0 AMTN 401138 broad.mit.edu 37 4 71390668 71390668 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:71390668T>G uc003hfk.1 + 5 373 c.284T>G c.(283-285)CTG>CGG p.L95R AMTN_uc010ihy.1_Missense_Mutation_p.L94R NM_212557 NP_997722 Q6UX39 AMTN_HUMAN amelotin precursor 95 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction large_intestine(1)|central_nervous_system(1) 2 Lung(101;0.235) CAACAGCAACTGCACCCACAT 0.448 NA 18 30 0 0 0.008871 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75065547 75065547 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:75065547C>T uc003hhn.1 + 7 832 c.314C>T c.(313-315)GCC>GTC p.A105V MTHFD2L_uc011cbj.1_Missense_Mutation_p.A105V|MTHFD2L_uc011cbk.1_Missense_Mutation_p.A163V NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase 2-like 105 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 all cancers(17;0.0101)|Lung(101;0.196) AATGGAATTGCCCCAGAAAAA 0.328 NA 4 81 0 0 0.001984 0 0 ANXA3 306 broad.mit.edu 37 4 79522696 79522696 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:79522696G>A uc003hld.2 + 11 1073 c.763G>A c.(763-765)GCC>ACC p.A255T ANXA3_uc003hle.2_Missense_Mutation_p.A216T|ANXA3_uc010ijk.2_Missense_Mutation_p.A216T NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 255 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 GGCCTTTTTAGCCGAAAGACT 0.393 GBM(2;126 157 27790 28920 42492) NA 40 67 0 0 0.00361 0 0 GK2 2712 broad.mit.edu 37 4 80328679 80328679 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:80328679G>A uc003hlu.2 - 1 694 c.676C>T c.(676-678)CCA>TCA p.P226S NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 226 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 AGGTCCATTGGAATTTCAAAA 0.408 NA 5 133 0 0 0.001168 0 0 SEC24D 9871 broad.mit.edu 37 4 119745843 119745843 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:119745843A>G uc003ici.3 - 3 452 c.180T>C c.(178-180)GGT>GGC p.G60G SEC24D_uc003icj.3_Silent_p.G60G|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 60 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 GAGGTGGGGGACCCGGAGGCA 0.542 NA 55 162 0 0 0.00361 0 0 TRPC3 7222 broad.mit.edu 37 4 122853479 122853479 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:122853479G>T uc003ieg.2 - 2 1008 c.934C>A c.(934-936)CTA>ATA p.L312I TRPC3_uc010inr.2_Missense_Mutation_p.L239I|TRPC3_uc003ief.2_Missense_Mutation_p.L239I|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 227 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CTGAGCTCTAGGGCCGTAAGC 0.592 NA 7 30 2.17888e-05 2.35991e-05 0.006214 1 0 PLK4 10733 broad.mit.edu 37 4 128814717 128814717 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:128814717G>A uc003ifo.2 + 12 2617 c.2372G>A c.(2371-2373)AGG>AAG p.R791K PLK4_uc011cgs.1_Missense_Mutation_p.R759K|PLK4_uc011cgt.1_Missense_Mutation_p.R750K NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 791 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GAAGAGGAAAGGAAAACTAGG 0.328 Colon(135;508 1718 19061 31832 42879) NA 15 42 0 0 0.004007 0 0 DCHS2 54798 broad.mit.edu 37 4 155278377 155278377 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:155278377T>G uc003inw.2 - 6 794 c.794A>C c.(793-795)CAC>CCC p.H265P DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 265 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctacttgaagtgccttagcag 0 NA 52 140 0 0 0.00361 0 0 FSTL5 56884 broad.mit.edu 37 4 162376242 162376242 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:162376242C>A uc003iqh.2 - 15 2191 c.1755G>T c.(1753-1755)ACG>ACT p.T585T FSTL5_uc003iqi.2_Silent_p.T584T|FSTL5_uc010iqv.2_Silent_p.T575T NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 585 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GGGTGTGGATCGTGTGGTGAG 0.433 NA 4 19 2.0095e-06 2.20924e-06 0.001984 1 0 FBXL7 23194 broad.mit.edu 37 5 15936997 15936997 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:15936997G>T uc003jfn.1 + 4 1659 c.1178G>T c.(1177-1179)GGT>GTT p.G393V NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 393 LRR 9. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 ACGGACCACGGTGTGGAGTAC 0.622 NA 6 19 0.00116845 0.00122906 0.001168 1 0 BASP1 10409 broad.mit.edu 37 5 17275921 17275921 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:17275921C>T uc003jfx.2 + 2 775 c.596C>T c.(595-597)GCC>GTC p.A199V NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 199 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 ACACCCAAGGCCCAGGGCCCC 0.652 NA 8 39 0 0 0.004482 0 0 CDH6 1004 broad.mit.edu 37 5 31323229 31323229 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:31323229C>A uc003jhe.1 + 12 2513 c.2187C>A c.(2185-2187)GCC>GCA p.A729A NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 729 Cytoplasmic (Potential). 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 ACCCCACTGCCCCGCCATACG 0.557 NA 12 35 1.15088e-07 1.30863e-07 0.004007 1 0 SPEF2 79925 broad.mit.edu 37 5 35700681 35700681 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:35700681C>T uc003jjo.2 + 16 2336 c.2225C>T c.(2224-2226)ACA>ATA p.T742I SPEF2_uc003jjq.3_Missense_Mutation_p.T737I|SPEF2_uc003jjp.1_Missense_Mutation_p.T228I NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 742 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAGCTCTTACAGGCTGCAAT 0.403 NA 25 72 0 0 0.005443 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968187 35968187 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:35968187G>C uc003jjv.1 - 3 402 c.245C>G c.(244-246)CCT>CGT p.P82R UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.P82R|UGT3A1_uc011cor.1_Missense_Mutation_p.P48R|UGT3A1_uc003jjy.1_Missense_Mutation_p.P28R NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 82 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGATCTTCAGGTGAAAACCA 0.318 NA 8 33 0 0 0.004482 0 0 NNT 23530 broad.mit.edu 37 5 43656049 43656049 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:43656049A>G uc003joe.2 + 15 2422 c.2167A>G c.(2167-2169)ATT>GTT p.I723V NNT_uc003jof.2_Missense_Mutation_p.I723V NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 723 Cytoplasmic. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) AGCTGAGTACATTATAGAATA 0.438 NA 16 47 0 0 0.00499 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54618257 54618257 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:54618257G>T uc003jpy.3 + 2 503 c.237G>T c.(235-237)AAG>AAT p.K79N SKIV2L2_uc011cqi.1_Intron NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 79 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTGGAAAGAAGCCCAGGATAG 0.318 Melanoma(2;92 134 23744 29976 33782) NA 20 78 3.62473e-10 4.33779e-10 0.012319 1 0 GPBP1 65056 broad.mit.edu 37 5 56527069 56527069 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:56527069A>T uc003jrh.3 + 5 1606 c.332A>T c.(331-333)CAT>CTT p.H111L GPBP1_uc010iwg.2_Missense_Mutation_p.H111L|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Missense_Mutation_p.H118L|GPBP1_uc003jrk.3_Missense_Mutation_p.H118L|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) CAAGGACTACATGAAAACAAC 0.393 NA 22 64 0 0 0.00632 0 0 SV2C 22987 broad.mit.edu 37 5 75505590 75505590 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:75505590C>A uc003kei.1 + 4 925 c.791C>A c.(790-792)TCG>TAG p.S264* NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 264 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACTGTGTTCTCGTACTTTGCT 0.557 NA 22 62 1.36615e-20 1.97874e-20 0.002836 1 0 RASGRF2 5924 broad.mit.edu 37 5 80376481 80376481 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:80376481A>G uc003kha.1 + 7 1034 c.1034A>G c.(1033-1035)TAC>TGC p.Y345C RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.Y173C NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 345 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AATCACCAGTACAGCCTGCAA 0.428 NA 46 149 0 0 0.00361 0 0 RASGRF2 5924 broad.mit.edu 37 5 80503114 80503114 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:80503114T>C uc003kha.1 + 21 3017 c.3017T>C c.(3016-3018)CTG>CCG p.L1006P RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 1006 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCCATGGAGCTGGCAGAACAG 0.572 NA 5 70 0 0 0.000602 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608494 81608494 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:81608494A>G uc003khv.2 + 9 1521 c.196A>G c.(196-198)ATC>GTC p.I66V ATP6AP1L_uc003khw.2_Missense_Mutation_p.I66V NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 66 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CCGAGTCGAGATCATTTCCAA 0.453 NA OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 209 0 0 0.00361 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748746 101748746 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:101748746A>T uc003knn.2 - 9 1746 c.1574T>A c.(1573-1575)TTT>TAT p.F525Y SLCO6A1_uc003kno.2_Missense_Mutation_p.F272Y|SLCO6A1_uc003knp.2_Missense_Mutation_p.F525Y|SLCO6A1_uc003knq.2_Missense_Mutation_p.F463Y NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 525 Extracellular (Potential).|Kazal-like. integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCAGGGAGAAAAATATTCAAT 0.284 NA 6 17 0 0 0.004482 0 0 ACSL6 23305 broad.mit.edu 37 5 131308464 131308464 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:131308464T>C uc010jdo.1 - 13 1299 c.1216A>G c.(1216-1218)ATC>GTC p.I406V ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.I431V|ACSL6_uc003kvy.1_Missense_Mutation_p.I431V|ACSL6_uc003kwb.2_Missense_Mutation_p.I396V|ACSL6_uc003kvz.1_Missense_Mutation_p.I331V|ACSL6_uc003kwa.1_Missense_Mutation_p.I417V|ACSL6_uc003kvw.1_Missense_Mutation_p.I52V|ACSL6_uc010jdn.1_Missense_Mutation_p.I421V NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 406 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCATTCCTGATGATTCCACTC 0.438 NA 36 91 0 0 0.009718 0 0 LOC153328 153328 broad.mit.edu 37 5 135188390 135188390 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:135188390C>A uc003laz.1 + 4 473 c.301C>A c.(301-303)CGC>AGC p.R101S LOC153328_uc003lba.2_Missense_Mutation_p.R101S Q6ZT89 S2548_HUMAN RecName: Full=Putative mitochondrial carrier protein FLJ44862; 101 Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGTCCTCCCCGCACGCTGTC 0.647 NA 20 91 6.45866e-13 8.15713e-13 0.00874 1 0 HNRNPA0 10949 broad.mit.edu 37 5 137089549 137089549 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:137089549G>A uc003lbt.2 - 1 491 c.207C>T c.(205-207)CCC>CCT p.P69P MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_Intron NM_006805 NP_006796 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 69 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCACGGCATGGGGCGAGGCGG 0.662 NA 25 79 0 0 0.004656 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207895 140207895 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140207895C>A uc003lho.2 + 1 246 c.219C>A c.(217-219)GAC>GAA p.D73E 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_Missense_Mutation_p.D73E|PCDHA6_uc011dab.1_Missense_Mutation_p.D73E NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 73 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCGAGGACCTTCTGGAGG 0.632 NA 90 263 1.37074e-43 2.23357e-43 0.00361 1 0 PCDHA12 56137 broad.mit.edu 37 5 140255747 140255747 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140255747A>G uc003lic.2 + 1 817 c.690A>G c.(688-690)ATA>ATG p.I230M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.I230M NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 230 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTCAAATAACCGTCCTGG 0.433 Pancreas(113;759 1672 13322 24104 50104) NA 39 83 0 0 0.00874 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502904 140502904 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140502904G>T uc003lip.1 + 1 1324 c.1324G>T c.(1324-1326)GAC>TAC p.D442Y NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 442 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGTCTCCGACGTCAATGA 0.607 NA 36 162 6.86731e-36 1.10421e-35 0.006999 1 0 PCDHB5 26167 broad.mit.edu 37 5 140517152 140517152 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140517152G>A uc003liq.2 + 1 2353 c.2136G>A c.(2134-2136)CTG>CTA p.L712L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 712 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTGCGGCTGTGCAGGAGGA 0.677 NA 48 188 0 0 0.00361 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553013 140553013 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140553013G>T uc003lit.2 + 1 771 c.597G>T c.(595-597)GTG>GTT p.V199V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 199 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAATCAAGTGCTGGATCGGG 0.517 NA 19 70 8.10497e-08 9.27371e-08 0.010504 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736243 140736243 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140736243C>A uc003ljq.1 + 1 1476 c.1476C>A c.(1474-1476)GCC>GCA p.A492A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A492A NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 492 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCCTGGCCGAAGACACCT 0.493 NA 54 185 3.07002e-29 4.76832e-29 0.00361 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140784669 140784669 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140784669G>A uc003lkh.1 + 1 2150 c.2150G>A c.(2149-2151)AGG>AAG p.R717K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R717K NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 717 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGCTGAGGCACTGGCAC 0.592 NA 22 106 0 0 0.002299 0 0 PCDH12 51294 broad.mit.edu 37 5 141335023 141335023 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:141335023C>T uc003llx.2 - 1 3605 c.2394G>A c.(2392-2394)GTG>GTA p.V798V NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 798 Cytoplasmic (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) CCTCCTTGTCCACATCTTTGT 0.612 NA 21 34 0 0 0.010504 0 0 GPX3 2878 broad.mit.edu 37 5 150407000 150407000 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:150407000C>G uc011dcm.1 + 5 584 c.367C>G c.(367-369)CGA>GGA p.R123G GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA NM_002084 NP_002075 P22352 GPX3_HUMAN glutathione peroxidase 3 precursor 123 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CAGGTATGTCCGACCAGGTGG 0.493 NA 38 111 0 0 0.009718 0 0 PPP1R2P3 153743 broad.mit.edu 37 5 156277687 156277687 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:156277687G>A uc003lwf.1 + 1 139 c.114G>A c.(112-114)GAG>GAA p.E38E NR_002168 RecName: Full=Putative protein phosphatase inhibitor 2-like protein 3; AltName: Full=Protein phosphatase 1, regulatory subunit 2 pseudogene 3; 0 GTGTCGACGAGGAGCTGAGCA 0.512 NA 8 29 0 0 0.006214 0 0 SOX30 11063 broad.mit.edu 37 5 157078599 157078599 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:157078599G>A uc003lxb.1 - 1 830 c.488C>T c.(487-489)TCC>TTC p.S163F SOX30_uc003lxc.1_Missense_Mutation_p.S163F|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 163 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCACCCTGGAGGCTCTAGG 0.662 Esophageal Squamous(31;525 799 19355 21125 41744) NA 42 63 0 0 0.00361 0 0 LSM11 134353 broad.mit.edu 37 5 157181018 157181018 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:157181018A>G uc003lxe.1 + 3 599 c.595A>G c.(595-597)ACT>GCT p.T199A LSM11_uc003lxf.1_5'Flank NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 199 SM 1. histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTAGGCACTTACTGATGTGGA 0.403 NA 27 65 0 0 0.012213 0 0 GABRA1 2554 broad.mit.edu 37 5 161324188 161324188 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:161324188T>C uc010jiw.2 + 11 1599 c.1131T>C c.(1129-1131)CCT>CCC p.P377P GABRA1_uc010jix.2_Silent_p.P377P|GABRA1_uc010jiy.2_Silent_p.P377P|GABRA1_uc003lyx.3_Silent_p.P377P|GABRA1_uc010jiz.2_Silent_p.P377P|GABRA1_uc010jja.2_Silent_p.P377P|GABRA1_uc010jjb.2_Silent_p.P377P NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 377 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCTACACCCCTAATTTGGCCA 0.453 NA 34 108 0 0 0.012213 0 0 HK3 3101 broad.mit.edu 37 5 176308305 176308305 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:176308305C>G uc003mfa.2 - 18 2717 c.2625G>C c.(2623-2625)CCG>CCC p.P875P HK3_uc003mez.2_Silent_p.P431P NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 875 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGACTCACCGCGGGTGCAGCT 0.672 NA 39 130 0 0 0.00361 0 0 MAPK9 5601 broad.mit.edu 37 5 179666965 179666965 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:179666965G>A uc003mls.3 - 10 1290 c.1019C>T c.(1018-1020)GCC>GTC p.A340V MAPK9_uc003mlt.3_Missense_Mutation_p.A340V|MAPK9_uc010jlc.2_Missense_Mutation_p.A340V|MAPK9_uc003mlv.3_Missense_Mutation_p.A340V NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 340 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCAACTGGGCATCATAAAT 0.343 NA 25 76 0 0 0.009535 0 0 FHL5 9457 broad.mit.edu 37 6 97053871 97053871 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:97053871T>A uc003pos.1 + 5 833 c.428T>A c.(427-429)ATC>AAC p.I143N FHL5_uc003pot.1_Missense_Mutation_p.I143N NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 143 LIM zinc-binding 2. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AAGCCTTTGATCTCCAAAGAG 0.413 NA 6 77 0 0 0.001984 0 0 FOXO3 2309 broad.mit.edu 37 6 108985039 108985039 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:108985039G>A uc003psk.2 + 3 1319 c.1003G>A c.(1003-1005)GAA>AAA p.E335K FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.E335K|FOXO3_uc011ean.1_Missense_Mutation_p.E115K|FOXO3_uc010kdj.1_Missense_Mutation_p.E115K NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 335 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) AGAGTTGGATGAAGTCCAGGA 0.592 NA 29 42 0 0 0.003271 0 0 AMD1 262 broad.mit.edu 37 6 111214177 111214177 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:111214177A>T uc003puk.1 + 8 1095 c.773A>T c.(772-774)AAC>ATC p.N258I AMD1_uc011eay.1_Missense_Mutation_p.N189I|AMD1_uc011eaz.1_Missense_Mutation_p.N229I|AMD1_uc011eba.1_Missense_Mutation_p.N138I|AMD1_uc003pul.1_Missense_Mutation_p.N110I NM_001634 NP_001625 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 isoform 1 258 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity upper_aerodigestive_tract(1) 1 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TTTGAAACAAACTTAAGTCAG 0.363 NA 72 70 0 0 0.00361 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121759 117121759 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:117121759G>T uc003pxj.1 - 4 1558 c.1536C>A c.(1534-1536)TTC>TTA p.F512L GPRC6A_uc003pxk.1_Missense_Mutation_p.F337L|GPRC6A_uc003pxl.1_Intron NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 512 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TAAGATTCCTGAACTCATTTT 0.318 NA 45 42 4.01344e-20 5.76734e-20 0.00361 1 0 THEMIS 387357 broad.mit.edu 37 6 128134393 128134393 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:128134393C>A uc003qbi.2 - 5 1712 c.1393G>T c.(1393-1395)GAT>TAT p.D465Y THEMIS_uc010kfa.2_Missense_Mutation_p.D368Y|THEMIS_uc011ebt.1_Missense_Mutation_p.D465Y|THEMIS_uc010kfb.2_Missense_Mutation_p.D430Y NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 465 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 ATGGAAAGATCCCTGACAGAC 0.468 NA 31 58 4.34311e-12 5.41035e-12 0.003271 1 0 SLC29A4 222962 broad.mit.edu 37 7 5327485 5327485 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:5327485G>T uc003sod.2 + 2 199 c.38G>T c.(37-39)AGC>ATC p.S13I SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.S13I|SLC29A4_uc003soe.2_Missense_Mutation_p.S13I NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 13 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GAGGAGCCCAGCGTGGCAGGC 0.622 NA 14 37 4.7546e-09 5.61628e-09 0.004007 1 0 RNF216 54476 broad.mit.edu 37 7 5800722 5800722 + Translation_Start_Site SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:5800722T>C uc003soy.1 - 2 169 c.-21A>G c.(-23--19)ATATA>ATGTA RNF216_uc010ksz.1_Translation_Start_Site|RNF216_uc010kta.1_Translation_Start_Site|RNF216_uc011jwj.1_Translation_Start_Site|RNF216_uc003sox.1_Translation_Start_Site NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GACATGCATATATGGGACTGC 0.383 NA 21 61 0 0 0.002299 0 0 CBX3 11335 broad.mit.edu 37 7 26248069 26248069 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:26248069C>T uc003sxt.2 + 4 335 c.224C>T c.(223-225)GCG>GTG p.A75V CBX3_uc003sxu.2_Missense_Mutation_p.A75V|CBX3_uc003sxv.2_Intron NM_007276 NP_009207 Q13185 CBX3_HUMAN chromobox homolog 3 75 Chromo 1. chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding ovary(1) 1 TTGATTGAAGCGTTTCTTAAC 0.308 NA 19 77 0 0 0.006122 0 0 INHBA 3624 broad.mit.edu 37 7 41730009 41730009 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:41730009G>T uc003thq.2 - 2 755 c.520C>A c.(520-522)CGC>AGC p.R174S INHBA_uc003thr.2_Missense_Mutation_p.R174S NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 174 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 TGGAAGAGGCGGATGGTGACT 0.582 NA TSP Lung(11;0.080) 38 101 1.48734e-19 2.12062e-19 0.013114 1 0 ZNF716 441234 broad.mit.edu 37 7 57529433 57529433 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:57529433C>A uc011kdi.1 + 4 1378 c.1266C>A c.(1264-1266)ACC>ACA p.T422T NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GCTCCTCAACCCTTAAGAAAC 0.383 NA 5 36 2.0095e-06 2.20924e-06 0.001984 1 0 SEMA3A 10371 broad.mit.edu 37 7 83610721 83610721 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:83610721G>C uc003uhz.2 - 14 1883 c.1568C>G c.(1567-1569)GCG>GGG p.A523G NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 523 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 CTCAGCACACGCTTTCCCGTA 0.483 NA 11 20 0 0 0.001855 0 0 MYL10 93408 broad.mit.edu 37 7 101267507 101267507 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:101267507G>T uc003uyr.2 - 2 294 c.116C>A c.(115-117)GCC>GAC p.A39D NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 39 mitochondrion calcium ion binding ovary(1)|breast(1) 2 GTTGGAGCTGGCGGTGCCTTC 0.587 Esophageal Squamous(24;575 709 17516 40384 51639) NA 35 82 1.32136e-16 1.79292e-16 0.00874 1 0 NAMPT 10135 broad.mit.edu 37 7 105903983 105903983 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:105903983G>T uc003vdq.2 - 7 1132 c.824C>A c.(823-825)TCT>TAT p.S275Y NAMPT_uc003vdr.1_Missense_Mutation_p.S275Y|NAMPT_uc011klu.1_Missense_Mutation_p.S188Y NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 275 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 GCTGACCACAGATACAGGCAC 0.363 NA 19 79 1.2644e-06 1.41567e-06 0.010504 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117417645 117417645 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:117417645C>A uc003vjf.2 - 8 2790 c.2698G>T c.(2698-2700)GTT>TTT p.V900F NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 900 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) GCAGGAACAACAGGCTTGGAT 0.493 NA 17 60 1.96292e-10 2.3568e-10 0.010504 1 0 PDIA4 9601 broad.mit.edu 37 7 148709033 148709033 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:148709033T>A uc003wff.2 - 6 1166 c.884A>T c.(883-885)CAG>CTG p.Q295L NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 295 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CTCCTGGACCTGCTTCAGGGT 0.572 NA 25 88 0 0 0.00632 0 0 SSPO 23145 broad.mit.edu 37 7 149522402 149522402 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:149522402G>T uc010lpk.2 + 101 14029 c.14029G>T c.(14029-14031)GAC>TAC p.D4677Y SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4677 TIL 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATTCACCCTGGACTGTGCCAA 0.637 NA 28 145 6.00712e-18 8.3687e-18 0.012213 1 0 DPP6 1804 broad.mit.edu 37 7 154172027 154172027 + Missense_Mutation SNP A A C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:154172027A>C uc003wlk.2 + 3 491 c.362A>C c.(361-363)GAA>GCA p.E121A DPP6_uc003wli.2_Missense_Mutation_p.E57A|DPP6_uc003wlj.2_Missense_Mutation_p.E121A|DPP6_uc010lqh.1_Missense_Mutation_p.E59A|DPP6_uc003wlm.2_Missense_Mutation_p.E59A|DPP6_uc011kvq.1_Missense_Mutation_p.E59A NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 121 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTCTAGCGGAAGATAATAGT 0.343 NSCLC(125;1384 1783 2490 7422 34254) NA 16 40 0 0 0.00499 0 0 LMBR1 64327 broad.mit.edu 37 7 156518480 156518480 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:156518480C>G uc003wmw.3 - 13 1260 c.1045G>C c.(1045-1047)GCG>CCG p.A349P LMBR1_uc003wmv.3_Missense_Mutation_p.A197P|LMBR1_uc003wmx.3_Missense_Mutation_p.A197P|LMBR1_uc010lqn.2_Missense_Mutation_p.A390P|LMBR1_uc011kvx.1_Missense_Mutation_p.A328P NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN limb region 1 protein 349 Helical; (Potential). A -> V (in Ref. 1; AAK94061). integral to membrane receptor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) ATTTCAAGCGCAGCTCCCACA 0.388 NA 10 44 0 0 0.008291 0 0 CSMD1 64478 broad.mit.edu 37 8 3889486 3889486 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:3889486G>A uc011kwk.1 - 4 941 c.551C>T c.(550-552)ACC>ATC p.T184I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 184 Extracellular (Potential).|Sushi 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACGATGCAGGTCAGGATGGC 0.552 NA 7 33 0 0 0.008291 0 0 WRN 7486 broad.mit.edu 37 8 30999102 30999102 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:30999102G>C uc003xio.3 + 25 3912 c.3124G>C c.(3124-3126)GCC>CCC p.A1042P WRN_uc010lvk.2_Missense_Mutation_p.A509P NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1042 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GAAGATTTGCGCCCTTACGAA 0.403 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 18 47 0 0 0.010504 0 0 ANK1 286 broad.mit.edu 37 8 41554022 41554022 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:41554022G>T uc003xok.2 - 26 2903 c.2819C>A c.(2818-2820)CCA>CAA p.P940Q NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.P256Q|ANK1_uc003xoi.2_Missense_Mutation_p.P940Q|ANK1_uc003xoj.2_Missense_Mutation_p.P940Q|ANK1_uc003xol.2_Missense_Mutation_p.P940Q|ANK1_uc003xom.2_Missense_Mutation_p.P981Q NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 940 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCACGTCCGTGGCGGGATCAC 0.677 NA 25 50 8.58068e-18 1.18634e-17 0.007291 1 0 ST18 9705 broad.mit.edu 37 8 53079434 53079434 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:53079434G>T uc003xqz.2 - 6 1338 c.1182C>A c.(1180-1182)CAC>CAA p.H394Q ST18_uc011ldq.1_Missense_Mutation_p.H41Q|ST18_uc011ldr.1_Missense_Mutation_p.H359Q|ST18_uc011lds.1_Missense_Mutation_p.H299Q|ST18_uc003xra.2_Missense_Mutation_p.H394Q|ST18_uc003xrb.2_Missense_Mutation_p.H394Q NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 394 C2HC-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCCGCACTTTGTGGGGGCACC 0.557 NA 37 128 1.17475e-09 1.39669e-09 0.00361 1 0 PRDM14 63978 broad.mit.edu 37 8 70982089 70982089 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:70982089G>T uc003xym.2 - 2 209 c.7C>A c.(7-9)CTA>ATA p.L3I NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGCCGGGGTAGAGCCATCCCG 0.711 NSCLC(129;99 1813 5906 40656 46114) NA 6 10 0.00198382 0.00208073 0.001984 1 0 VPS13B 157680 broad.mit.edu 37 8 100454673 100454673 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:100454673G>T uc003yiv.2 + 23 3366 c.3255G>T c.(3253-3255)CTG>CTT p.L1085L VPS13B_uc003yiw.2_Silent_p.L1085L|VPS13B_uc003yiu.1_Silent_p.L1085L|VPS13B_uc003yix.1_Silent_p.L555L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1085 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) ATGATAGCCTGCCTTCCCCAA 0.398 Colon(161;2205 2542 7338 31318) NA 30 60 1.90571e-15 2.52939e-15 0.004289 1 0 FAM135B 51059 broad.mit.edu 37 8 139164306 139164306 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:139164306C>G uc003yuy.2 - 13 2583 c.2412G>C c.(2410-2412)AAG>AAC p.K804N FAM135B_uc003yux.2_Missense_Mutation_p.K705N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K366N|FAM135B_uc003yvb.2_Missense_Mutation_p.K366N NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 804 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACCTTGGCTCTTGCTGTGCA 0.517 NA HNSCC(54;0.14) 27 93 0 0 0.008361 0 0 COL22A1 169044 broad.mit.edu 37 8 139890410 139890410 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:139890410G>A uc003yvd.2 - 3 688 c.241C>T c.(241-243)CGC>TGC p.R81C NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 81 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCGCTGTAGCGCACGACCCCC 0.687 NA HNSCC(7;0.00092) 6 12 0 0 0.001984 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297309 144297309 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:144297309C>T uc003yxu.1 + 4 546 c.471C>T c.(469-471)CCC>CCT p.P157P NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 157 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGGCGGCCCCCGGGGCAGCT 0.692 NA 31 54 0 0 0.010818 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420407 69420407 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:69420407C>T uc004afn.2 + 13 1409 c.1297C>T c.(1297-1299)CTG>TTG p.L433L NM_001098805 NP_001092275 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 433 Potential. 0 TCCCAAGAAGCTGAAGGAAGA 0.313 NA 6 128 0 0 0.008291 0 0 FLJ43950 347127 broad.mit.edu 37 9 84530750 84530750 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:84530750C>A uc011lst.1 + 4 772 c.671C>A c.(670-672)CCA>CAA p.P224Q NR_026851 SubName: Full=cDNA FLJ43950 fis, clone TESTI4015293, moderately similar to FAM75-like protein; 0 CCCCTTTTCCCACCGCATCAC 0.532 NA 48 96 1.61863e-15 2.1641e-15 0.00361 1 0 AUH 549 broad.mit.edu 37 9 94060310 94060310 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:94060310C>A uc004arf.3 - 5 589 c.554G>T c.(553-555)GGT>GTT p.G185V AUH_uc004arg.3_Missense_Mutation_p.G156V|AUH_uc011ltu.1_Missense_Mutation_p.G185V NM_001698 NP_001689 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-Coenzyme A 185 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding 0 AAGACCACCACCTAAAGCGAG 0.348 NA 26 54 4.74835e-14 6.14592e-14 0.010818 1 0 PTPDC1 138639 broad.mit.edu 37 9 96860223 96860223 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:96860223C>T uc004auf.1 + 7 1553 c.1213C>T c.(1213-1215)CTG>TTG p.L405L PTPDC1_uc004aug.1_Silent_p.L405L|PTPDC1_uc004auh.1_Silent_p.L457L|PTPDC1_uc010mrj.1_Silent_p.L459L|PTPDC1_uc010mri.1_Silent_p.L457L NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 405 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 CGAGAACCTCCTGGAGCAAGG 0.532 NA 20 40 0 0 0.00278 0 0 OR1J1 347168 broad.mit.edu 37 9 125239348 125239348 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:125239348G>T uc011lyu.1 - 1 858 c.858C>A c.(856-858)AAC>AAA p.N286K OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AAATGAATGGGTTCAACATGG 0.318 NA 48 102 2.23044e-30 3.50909e-30 0.00361 1 0 COL5A1 1289 broad.mit.edu 37 9 137704349 137704349 + Splice_Site SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:137704349G>C uc004cfe.2 + 47 4126 c.3744_splice c.e47+1 p.M1248_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCCAGATGGTAAGTGTGCC 0.537 NA 26 37 0 0 0.010818 0 0 SHROOM2 357 broad.mit.edu 37 X 9862711 9862711 + Missense_Mutation SNP G G T rs111899727 byFrequency TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:9862711G>T uc004csu.1 + 4 853 c.763G>T c.(763-765)GCA>TCA p.A255S NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 255 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GGCCCAGGCCGCAGGCGACCC 0.672 NA 20 10 5.26018e-13 6.68977e-13 0.012319 1 0 ARHGAP6 395 broad.mit.edu 37 X 11162223 11162223 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:11162223G>T uc004cup.1 - 11 2926 c.2053C>A c.(2053-2055)CAA>AAA p.Q685K ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q685K|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q482K|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q505K|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q507K|ARHGAP6_uc011mif.1_3'UTR NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 685 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 GCGTCCTCTTGCATAGCCAGC 0.577 NA OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 58 1.81118e-26 2.76603e-26 0.00361 1 0 GLRA2 2742 broad.mit.edu 37 X 14550471 14550471 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:14550471C>G uc010nep.2 + 3 511 c.179C>G c.(178-180)GCA>GGA p.A60G GLRA2_uc010neq.2_Missense_Mutation_p.A60G|GLRA2_uc004cwe.3_Missense_Mutation_p.A60G|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.A38G NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 60 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GGATATGATGCAAGAATCAGG 0.378 NA 20 15 0 0 0.00333 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19650023 19650023 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:19650023A>G uc004czm.2 - 8 1172 c.856T>C c.(856-858)TTG>CTG p.L286L SH3KBP1_uc011mje.1_Silent_p.L25L|SH3KBP1_uc011mjf.1_Silent_p.L48L|SH3KBP1_uc004czl.2_Silent_p.L249L NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 286 SH3 3. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 TTGATTGTCAATTCATCATCA 0.353 NA 40 29 0 0 0.011902 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820818 35820818 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:35820818G>T uc010ngt.1 + 2 784 c.505G>T c.(505-507)GAT>TAT p.D169Y NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 169 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 ATTTGGCCTTGATGTGGTGGA 0.488 NA 43 44 5.78141e-17 7.90343e-17 0.013114 1 0 RBM10 8241 broad.mit.edu 37 X 47041247 47041247 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:47041247G>T uc004dhf.2 + 15 2054 c.1675G>T c.(1675-1677)GAA>TAA p.E559* RBM10_uc004dhg.2_Nonsense_Mutation_p.E481*|RBM10_uc004dhh.2_Nonsense_Mutation_p.E558*|RBM10_uc010nhq.2_Nonsense_Mutation_p.E482*|RBM10_uc004dhi.2_Nonsense_Mutation_p.E624* NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 559 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CACTGCCCAGGAATCCTACAG 0.577 Melanoma(171;120 2705 19495 39241) NA 12 12 5.50884e-06 6.00217e-06 0.001368 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434120 72434120 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:72434120C>A uc004ebi.2 - 1 565 c.209G>T c.(208-210)GGG>GTG p.G70V NAP1L2_uc011mqj.1_Intron NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 70 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CCCATCTTCCCCGGACCCAGC 0.527 NA 49 32 6.31075e-24 9.40173e-24 0.00361 1 0 HTATSF1 27336 broad.mit.edu 37 X 135592243 135592243 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:135592243G>A uc004ezw.2 + 9 1349 c.927G>A c.(925-927)AGG>AGA p.R309R HTATSF1_uc004ezx.2_Silent_p.R309R NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 309 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTTCTAGAGGCACCCAGATG 0.388 NA 15 91 0 0 0.007413 0 0 AFF2 2334 broad.mit.edu 37 X 148037652 148037652 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:148037652G>T uc004fcp.2 + 11 2556 c.2077G>T c.(2077-2079)GAG>TAG p.E693* AFF2_uc004fcq.2_Nonsense_Mutation_p.E683*|AFF2_uc004fcr.2_Nonsense_Mutation_p.E654*|AFF2_uc011mxb.1_Nonsense_Mutation_p.E658*|AFF2_uc004fcs.2_Nonsense_Mutation_p.E660*|AFF2_uc011mxc.1_Nonsense_Mutation_p.E334* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 693 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCTCCCGAGAAGAAGAA 0.498 NA 68 63 1.74474e-33 2.79312e-33 0.00361 1 0 TREX2 11219 broad.mit.edu 37 X 152710691 152710691 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:152710691C>A uc010nue.1 - 3 440 c.324G>T c.(322-324)CCG>CCT p.P108P TREX2_uc010nud.1_Silent_p.P66P|TREX2_uc011myp.1_Silent_p.P66P|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 109 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCGCTCCGGGCACATGC 0.667 NA Editing_and_processing_nucleases 21 15 2.44723e-14 3.20158e-14 0.004656 1 0 ATP2B3 492 broad.mit.edu 37 X 152826288 152826288 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:152826288C>T uc004fht.1 + 17 3120 c.2994C>T c.(2992-2994)GAC>GAT p.D998D ATP2B3_uc004fhs.1_Silent_p.D998D|ATP2B3_uc010nuf.1_Silent_p.D21D|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 998 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACGTGTTCGACGGCATCTTCA 0.542 NA 54 38 0 0 0.00361 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:155886422_155886423delCT uc001fmi.1 - 12 1570_1571 c.1546_1547delAG c.(1546-1548)AGGfs p.R516fs KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.R373fs|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 516 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 NA 8 393 --- --- --- --- NA NA NA NA NA SIK2 23235 broad.mit.edu 37 11 111594606 111594606 + Frame_Shift_Del DEL C C - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:111594606delC uc001plt.2 + 15 2652 c.2534delC c.(2533-2535)TCCfs p.S845fs NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 845 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TTACAGTTCTCCTATCAGACT 0.498 NA 12 35 --- --- --- --- NA NA NA NA NA ITGBL1 9358 broad.mit.edu 37 13 102105283 102105286 + Splice_Site DEL GTAA GTAA - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 GTAA GTAA - - GTAA GTAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:102105283_102105286delGTAA uc001vpb.2 + 1 317 c.98_splice c.e1+1 p.R33_splice ITGBL1_uc010agb.2_Splice_Site_p.R33_splice|ITGBL1_uc001vpc.3_Splice_Site NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CATCTCTGAGGTAAGTTTGGTTTG 0.52 NA 27 88 --- --- --- --- NA NA NA NA NA ITGA3 3675 broad.mit.edu 37 17 48148712 48148713 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:48148712_48148713insA uc010dbl.2 + 6 1253_1254 c.789_790insA c.(787-792)CCCAAAfs p.P263fs ITGA3_uc010dbm.2_Frame_Shift_Ins_p.P263fs NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 263_264 FG-GAP 4.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 TCCTGCACCCCAAAAACATCAC 0.574 NA 19 58 --- --- --- --- NA NA NA NA NA C2orf56 55471 broad.mit.edu 37 2 37474741 37474742 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:37474741_37474742insA uc002rqa.3 + 9 1154_1155 c.1079_1080insA c.(1078-1080)TTAfs p.L360fs C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Frame_Shift_Ins_p.L262fs|C2orf56_uc010ynk.1_Frame_Shift_Ins_p.L289fs|C2orf56_uc010ynl.1_Frame_Shift_Ins_p.L333fs|C2orf56_uc010fah.2_RNA NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 360 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) CACACATTTTTAAAAAATATGG 0.347 NA 31 93 --- --- --- --- NA NA NA NA NA HDLBP 3069 broad.mit.edu 37 2 242194509 242194509 + Frame_Shift_Del DEL T T - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:242194509delT uc002waz.2 - 9 1373 c.1145delA c.(1144-1146)AAGfs p.K382fs HDLBP_uc002wba.2_Frame_Shift_Del_p.K382fs|HDLBP_uc002wbb.2_Frame_Shift_Del_p.K334fs|HDLBP_uc010fzn.1_Frame_Shift_Del_p.K111fs NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 382 KH 4. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTGCCCTTTCTTGCCAATGAT 0.478 NA 147 382 --- --- --- --- NA NA NA NA NA RBM15B 29890 broad.mit.edu 37 3 51431352 51431353 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:51431352_51431353insG uc003dbd.2 + 1 2622_2623 c.2522_2523insG c.(2521-2523)GTGfs p.V841fs NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 841 Interaction with Epstein-Barr virus BMLF1.|SPOC. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGCTTGCCAGTGGGGGGGTCCA 0.609 NA 24 64 --- --- --- --- NA NA NA NA NA PIGG 54872 broad.mit.edu 37 4 514917 514919 + In_Frame_Del DEL AGC AGC - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 AGC AGC - - AGC AGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:514917_514919delAGC uc003gak.3 + 7 1323_1325 c.1187_1189delAGC c.(1186-1191)AAGCAT>AAT p.396_397KH>N PIGG_uc003gaj.3_In_Frame_Del_p.396_397KH>N|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_In_Frame_Del_p.263_264KH>N|PIGG_uc003gal.3_In_Frame_Del_p.307_308KH>N|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_In_Frame_Del_p.274_275KH>N|PIGG_uc003gam.2_Intron|PIGG_uc003gan.2_In_Frame_Del_p.307_308KH>N NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 396_397 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 TTGGAGGAAAAGCATTCAGAAGT 0.473 NA 37 162 --- --- --- --- NA NA NA NA NA HAUS3 79441 broad.mit.edu 37 4 2242588 2242591 + Frame_Shift_Del DEL CAGT CAGT - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CAGT CAGT - - CAGT CAGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:2242588_2242591delCAGT uc003ges.1 - 2 313_316 c.83_86delACTG c.(82-87)GACTGGfs p.D28fs POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Frame_Shift_Del_p.D28fs|HAUS3_uc003get.1_Frame_Shift_Del_p.D28fs NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 28_29 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 CTCAAACAACCAGTCAAAGTCTTC 0.373 NA 31 139 --- --- --- --- NA NA NA NA NA HERC3 8916 broad.mit.edu 37 4 89574037 89574038 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:89574037_89574038insG uc003hrw.1 + 6 647_648 c.481_482insG c.(481-483)TGGfs p.W161fs HERC3_uc003hrv.2_Frame_Shift_Ins_p.W161fs|HERC3_uc011cdn.1_Frame_Shift_Ins_p.W43fs NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 161 RCC1 4. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GTTCTTCACCTGGGGAAAGAAC 0.495 NA 12 51 --- --- --- --- NA NA NA NA NA SEC24B 10427 broad.mit.edu 37 4 110454835 110454836 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:110454835_110454836insA uc003hzk.2 + 22 3637_3638 c.3582_3583insA c.(3580-3585)CAGAAAfs p.Q1194fs SEC24B_uc003hzl.2_Frame_Shift_Ins_p.Q1159fs|SEC24B_uc011cfp.1_Frame_Shift_Ins_p.Q1224fs|SEC24B_uc011cfq.1_Frame_Shift_Ins_p.Q1193fs|SEC24B_uc011cfr.1_Frame_Shift_Ins_p.Q1158fs NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1194_1195 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAATACCACAGAAAATGGTCAG 0.238 NA 11 141 --- --- --- --- NA NA NA NA NA SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:145637952_145637954delCAG uc003zcq.2 - 12 2012_2014 c.1912_1914delCTG c.(1912-1914)CTGdel p.L638del SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_In_Frame_Del_p.L140del|SLC39A4_uc003zco.2_In_Frame_Del_p.L362del|SLC39A4_uc003zcp.2_In_Frame_Del_p.L613del NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 638 Helical; Name=6; (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 NA 7 485 --- --- --- --- NA NA NA NA NA