Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample KIAA0090 23065 broad.mit.edu 37 1 19549914 19549914 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:19549914G>A uc001bbo.2 - 19 2395 c.2352C>T c.(2350-2352)ATC>ATT p.I784I KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 784 DUF1620.|Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) CTGAATGCACGATATGGACAG 0.537 NaN 0 0 0 0.004482 0 8 281 COL9A2 1298 broad.mit.edu 37 1 40766912 40766912 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:40766912C>G uc001cfh.1 - 32 2082 c.2012G>C c.(2011-2013)GGA>GCA p.G671A COL9A2_uc001cfi.1_Missense_Mutation_p.G490A NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 671 Nonhelical region 1 (NC1). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) GGCCGAAGCTCCAAGGCAGGC 0.677 NaN 0 0 0 0.016522 0 22 34 SLC6A9 6536 broad.mit.edu 37 1 44474107 44474107 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:44474107G>A uc001cll.2 - 5 919 c.727C>T c.(727-729)CGG>TGG p.R243W SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 243 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) GCGGCTGGCCGAGAGCCATTG 0.642 NaN 0 0 0 0.006122 0 15 111 HSPB11 51668 broad.mit.edu 37 1 54395807 54395807 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:54395807G>A uc001cwh.2 - 3 186 c.110C>T c.(109-111)ACG>ATG p.T37M HSPB11_uc001cwi.1_Missense_Mutation_p.T37M NM_016126 NP_057210 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 37 cell adhesion|response to stress 0 GGTCCAAAACGTTTCTGGATT 0.284 NaN 0 0 0 0.01441 0 49 76 ITGA10 8515 broad.mit.edu 37 1 145534100 145534100 + Silent SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:145534100C>G uc001eoa.2 + 14 1681 c.1605C>G c.(1603-1605)CTC>CTG p.L535L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L404L|ITGA10_uc009wiw.2_Silent_p.L392L|ITGA10_uc010oyw.1_Silent_p.L480L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 535 Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCTGACCCTCCAAGGAACAC 0.532 NaN 0 0 0 0.011902 0 43 175 S100A8 6279 broad.mit.edu 37 1 153362976 153362976 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:153362976G>A uc001fbs.2 - 2 91 c.36C>T c.(34-36)ATC>ATT p.I12I NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 12 EF-hand 1. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGACGTCGATGATAGAGTTCA 0.493 NaN 0 0 0 0.01441 0 64 231 CCT3 7203 broad.mit.edu 37 1 156281973 156281973 + Silent SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:156281973C>G uc001fol.1 - 11 1234 c.1014G>C c.(1012-1014)CTG>CTC p.L338L CCT3_uc001fom.1_Silent_p.L337L|CCT3_uc001fon.1_Silent_p.L300L|CCT3_uc010phj.1_Silent_p.L292L|CCT3_uc010phk.1_Silent_p.L292L|CCT3_uc010phl.1_Silent_p.L292L NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 338 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CATCTTCTCTCAGTTCCTCTG 0.478 NaN 0 0 0 0.012213 0 31 78 NES 10763 broad.mit.edu 37 1 156647053 156647053 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:156647053C>G uc001fpq.2 - 1 137 c.4G>C c.(4-6)GAG>CAG p.E2Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 2 Head. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGCAGCCCTCCATCCTGCTC 0.627 NaN 0 0 0 0.009096 0 4 33 PVRL4 81607 broad.mit.edu 37 1 161047356 161047356 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:161047356G>A uc001fxo.2 - 3 916 c.617C>T c.(616-618)TCA>TTA p.S206L PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 206 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GTGGAACTCTGAGGTGACGGC 0.622 NaN 0 0 0 0.01441 0 53 424 FMO2 2327 broad.mit.edu 37 1 171154946 171154946 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:171154946G>C uc001ghk.1 + 2 211 c.94G>C c.(94-96)GAG>CAG p.E32Q FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 32 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACTTGCTTTGAGAGAACTGA 0.463 NaN 0 0 0 0.013114 0 43 157 C1orf9 51430 broad.mit.edu 37 1 172558229 172558229 + Missense_Mutation SNP A A T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:172558229A>T uc001giq.3 + 18 2304 c.1988A>T c.(1987-1989)CAA>CTA p.Q663L C1orf9_uc010pmm.1_Missense_Mutation_p.Q663L|C1orf9_uc009wwd.2_Missense_Mutation_p.Q619L|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 663 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) GTGTTAGCTCAACCACCCTTA 0.398 NaN 0 0 0 0.001168 0 5 45 LAMC2 3918 broad.mit.edu 37 1 183209495 183209495 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:183209495C>T uc001gqa.2 + 22 3611 c.3297C>T c.(3295-3297)CTC>CTT p.L1099L LAMC2_uc001gpz.3_Silent_p.L1099L|LAMC2_uc010poa.1_Silent_p.L799L NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1099 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 AAGACACACTCAACACATTAG 0.498 NaN 0 0 0 0.004482 0 9 53 NVL 4931 broad.mit.edu 37 1 224492852 224492852 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:224492852G>C uc001hok.2 - 7 675 c.632C>G c.(631-633)TCT>TGT p.S211C NVL_uc001hol.2_Missense_Mutation_p.S105C|NVL_uc010pvd.1_Missense_Mutation_p.S120C|NVL_uc010pve.1_5'UTR|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 211 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) CTCCAAAAGAGAAGAATCTTT 0.318 NaN 0 0 0 0.007291 0 29 60 SDCCAG8 10806 broad.mit.edu 37 1 243471361 243471361 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:243471361C>G uc001hzw.2 + 8 967 c.811C>G c.(811-813)CTG>GTG p.L271V SDCCAG8_uc010pyk.1_Missense_Mutation_p.L126V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.L83V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.L83V NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 271 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGAATTTCTTCTGGCTGCTAA 0.368 NaN 0 0 0 0.01441 0 90 91 OR2T6 254879 broad.mit.edu 37 1 248551039 248551039 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:248551039G>A uc001iei.1 + 1 130 c.130G>A c.(130-132)GTC>ATC p.V44I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(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;0.0265) AGCTAATGGGGTCATGATCTT 0.468 NaN 0 0 0 0.008871 0 20 82 ADAMTS14 140766 broad.mit.edu 37 10 72520559 72520559 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr10:72520559G>C uc001jrh.2 + 22 3622 c.3622G>C c.(3622-3624)GAC>CAC p.D1208H ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1211H NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1208 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 ACCTGGAGAAGACCTGAGACA 0.642 NaN 0 0 0 0.015359 0 34 89 ADK 132 broad.mit.edu 37 10 76285071 76285071 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr10:76285071G>A uc001jwi.2 + 7 685 c.613G>A c.(613-615)GAA>AAA p.E205K ADK_uc010qlb.1_Intron|ADK_uc001jwj.2_Missense_Mutation_p.E188K|ADK_uc010qlc.1_Missense_Mutation_p.E170K|ADK_uc001jwl.2_5'UTR NM_006721 NP_006712 P55263 ADK_HUMAN adenosine kinase isoform b 205 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor ovary(1)|skin(1) 2 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CCATGCTTCTGAAAACAACAG 0.368 NaN 0 0 0 0.01441 0 87 207 GALNTL4 374378 broad.mit.edu 37 11 11394086 11394086 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:11394086G>A uc001mjo.2 - 6 1489 c.1068C>T c.(1066-1068)GGC>GGT p.G356G NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 356 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CCACATTCTCGCCCCCGTAGA 0.602 NaN 0 0 0 0.001984 0 6 57 OR8H1 219469 broad.mit.edu 37 11 56058521 56058521 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:56058521G>T uc010rje.1 - 1 18 c.18C>A c.(16-18)AAC>AAA p.N6K NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GCACATTTGTGTTATTTCTTC 0.358 NaN 1 0 3.73988e-18 0.00632 4.21274e-18 28 115 CCDC88B 283234 broad.mit.edu 37 11 64123092 64123092 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:64123092A>G uc001nzy.2 + 26 4411 c.4367A>G c.(4366-4368)AAC>AGC p.N1456S CCDC88B_uc001oaa.2_Missense_Mutation_p.T561A|CCDC88B_uc001oab.1_Missense_Mutation_p.N340S|CCDC88B_uc001oac.2_Missense_Mutation_p.T72A NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1456 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 ACAGATGCCAACCGAGAGGGT 0.547 NaN 0 0 0 0.004482 0 8 49 SIPA1 6494 broad.mit.edu 37 11 65417472 65417472 + Nonsense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:65417472C>A uc001ofb.2 + 13 2965 c.2798C>A c.(2797-2799)TCG>TAG p.S933* SIPA1_uc010rom.1_Nonsense_Mutation_p.S831*|SIPA1_uc001ofd.2_Nonsense_Mutation_p.S933* NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 933 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 CAGGCCATCTCGGAGATTGCC 0.647 NaN 1 0 0.000602214 0.014758 0.000634592 5 76 TSKU 25987 broad.mit.edu 37 11 76506922 76506922 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:76506922G>A uc001oxt.2 + 2 434 c.262G>A c.(262-264)GGC>AGC p.G88S NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 88 LRR 2. extracellular region 0 Ovarian(111;0.112) GACGTTGGCTGGCCTGGATCT 0.627 NaN 0 0 0 0.004482 0 8 70 GRIA4 2893 broad.mit.edu 37 11 105774631 105774631 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr11:105774631G>C uc001pix.2 + 8 1423 c.977G>C c.(976-978)GGA>GCA p.G326A GRIA4_uc001piu.1_Missense_Mutation_p.G326A|GRIA4_uc001piw.2_Missense_Mutation_p.G326A|GRIA4_uc009yxk.1_Missense_Mutation_p.G326A NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 326 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCAAGGAGAGGAAATGCTGGG 0.443 NaN 0 0 0 0.009718 0 45 68 SPATS2 65244 broad.mit.edu 37 12 49888683 49888683 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:49888683G>A uc001rud.2 + 7 1413 c.424G>A c.(424-426)GAG>AAG p.E142K SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E142K|SPATS2_uc001ruf.2_Missense_Mutation_p.E142K|SPATS2_uc001rug.2_Missense_Mutation_p.E142K NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 142 cytoplasm breast(1) 1 CAATGACACTGAGTCTGTGGA 0.468 NaN 0 0 0 0.008871 0 21 57 SPATS2 65244 broad.mit.edu 37 12 49888713 49888713 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:49888713G>A uc001rud.2 + 7 1443 c.454G>A c.(454-456)GAG>AAG p.E152K SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E152K|SPATS2_uc001ruf.2_Missense_Mutation_p.E152K|SPATS2_uc001rug.2_Missense_Mutation_p.E152K NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 152 cytoplasm breast(1) 1 TGAAGGTTTGGAGACACTTTC 0.453 NaN 0 0 0 0.014323 0 22 69 OR6C70 390327 broad.mit.edu 37 12 55863607 55863607 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:55863607C>T uc010spn.1 - 1 316 c.316G>A c.(316-318)GGG>AGG p.G106R NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTGTAACCCCCAAGAATATG 0.393 NaN 0 0 0 0.004482 0 8 52 LRP1 4035 broad.mit.edu 37 12 57596297 57596297 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:57596297A>G uc001snd.2 + 68 11154 c.10688A>G c.(10687-10689)GAC>GGC p.D3563G NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3563 LDL-receptor class A 26.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GATTGCGGTGACAACTCCGAT 0.652 NaN 0 0 0 0.004672 0 3 43 TCP11L2 255394 broad.mit.edu 37 12 106712243 106712243 + Splice_Site SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:106712243G>A uc001tln.2 + 4 588 c.414_splice c.e4+1 p.E138_splice TCP11L2_uc001tll.2_Splice_Site_p.E138_splice|TCP11L2_uc001tlm.2_Splice_Site_p.E138_splice NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 ovary(3) 3 AATCAGAGAGGCAAGTTGCTT 0.294 NaN 0 0 0 0.006214 0 9 128 GPN3 51184 broad.mit.edu 37 12 110906002 110906002 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:110906002G>A uc001tqr.2 - 1 63 c.7C>T c.(7-9)CGG>TGG p.R3W GPN3_uc001tqs.2_Missense_Mutation_p.R3W|C12orf24_uc010sxz.1_5'Flank|C12orf24_uc009zvo.2_5'Flank|C12orf24_uc001tqt.2_5'Flank|C12orf24_uc001tqu.3_5'Flank|C12orf24_uc001tqv.3_5'Flank NM_016301 NP_057385 Q9UHW5 GPN3_HUMAN GPN-loop GTPase 3 isoform 1 3 protein complex GTP binding 0 TGCGCATACCGAGGCATGTTG 0.637 NaN 0 0 0 0.004656 0 26 88 CLIP1 6249 broad.mit.edu 37 12 122825944 122825944 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:122825944C>T uc001ucg.1 - 10 1913 c.1807G>A c.(1807-1809)GAG>AAG p.E603K CLIP1_uc001uch.1_Missense_Mutation_p.E592K|CLIP1_uc001uci.1_Missense_Mutation_p.E557K|CLIP1_uc001ucj.1_Missense_Mutation_p.E293K|CLIP1_uc009zxo.1_Missense_Mutation_p.E159K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 603 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTCAATGACTCGTTCTCTTTG 0.468 NaN 0 0 0 0.012319 0 22 277 HIP1R 9026 broad.mit.edu 37 12 123342728 123342728 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr12:123342728C>T uc001udj.1 + 19 1954 c.1895C>T c.(1894-1896)GCG>GTG p.A632V HIP1R_uc001udk.1_5'UTR NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 632 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GCCGAGGCCGCGGGCATCCTG 0.687 NaN 0 0 0 0.01441 0 38 19 TPTE2 93492 broad.mit.edu 37 13 20041439 20041439 + Silent SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:20041439G>T uc001umd.2 - 8 649 c.438C>A c.(436-438)GCC>GCA p.A146A TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 146 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCACAATAATGGCAGTATCTA 0.313 NaN 1 0 1.06961e-07 0.00308 1.16469e-07 7 51 SACS 26278 broad.mit.edu 37 13 23929791 23929791 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:23929791G>A uc001uon.2 - 8 1549 c.960C>T c.(958-960)GTC>GTT p.V320V SACS_uc001uoo.2_Silent_p.V173V|SACS_uc001uop.1_Silent_p.V107V|SACS_uc001uoq.1_Silent_p.V173V NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 320 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGCCTCTCGGACATATAAGG 0.443 NaN 0 0 0 0.00499 0 16 55 BRCA2 675 broad.mit.edu 37 13 32914782 32914782 + Missense_Mutation SNP C C T rs80358866 TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:32914782C>T uc001uub.1 + 11 6517 c.6290C>T c.(6289-6291)ACG>ATG p.T2097M NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2097 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TATTCACCTACGTCTAGACAA 0.348 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.003163 0 16 91 THSD1 55901 broad.mit.edu 37 13 52971455 52971455 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:52971455C>T uc001vgo.2 - 3 1478 c.933G>A c.(931-933)GGG>GGA p.G311G THSD1_uc001vgp.2_Silent_p.G311G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 311 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ACTTATTCTTCCCCATGTCAA 0.448 NaN 0 0 0 0.00308 0 7 129 OLFM4 10562 broad.mit.edu 37 13 53624617 53624617 + Missense_Mutation SNP T T G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:53624617T>G uc001vhl.2 + 5 1244 c.1244T>G c.(1243-1245)CTT>CGT p.L415R OLFM4_uc001vhk.1_3'UTR NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 415 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GACACCACACTTCAGGTGCTA 0.428 NaN 0 0 0 0.013726 0 32 140 RNF113B 140432 broad.mit.edu 37 13 98828998 98828998 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr13:98828998C>T uc001vnk.2 - 1 524 c.493G>A c.(493-495)GGC>AGC p.G165S FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 165 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) GAGGAGTTGCCCATGGACGTG 0.647 NaN 0 0 0 0.001168 0 5 142 OR4L1 122742 broad.mit.edu 37 14 20528885 20528885 + Missense_Mutation SNP A A C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:20528885A>C uc001vwn.1 + 1 682 c.682A>C c.(682-684)AAA>CAA p.K228Q NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGTACCAAAAAAATCATCACA 0.448 NaN 0 0 0 0.014758 0 5 143 SYNE2 23224 broad.mit.edu 37 14 64514796 64514796 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:64514796C>T uc001xgm.2 + 46 7530 c.7300C>T c.(7300-7302)CGG>TGG p.R2434W SYNE2_uc001xgl.2_Missense_Mutation_p.R2434W NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2434 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGAAGATGAGCGGAAAGTCAA 0.323 NaN 0 0 0 0.008291 0 10 48 SYNE2 23224 broad.mit.edu 37 14 64519446 64519446 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:64519446G>C uc001xgm.2 + 48 9045 c.8815G>C c.(8815-8817)GAA>CAA p.E2939Q SYNE2_uc001xgl.2_Missense_Mutation_p.E2939Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2939 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAATGAAGTGGAACACAAGAT 0.343 NaN 0 0 0 0.013537 0 13 39 SPTB 6710 broad.mit.edu 37 14 65253698 65253698 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:65253698C>T uc001xht.2 - 15 3039 c.2985G>A c.(2983-2985)AGG>AGA p.R995R SPTB_uc001xhr.2_Silent_p.R995R|SPTB_uc001xhs.2_Silent_p.R995R|SPTB_uc001xhu.2_Silent_p.R995R NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 995 Spectrin 7. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGACAACTTCCTCTGGATGG 0.607 NaN 0 0 0 0.008361 0 29 82 SMOC1 64093 broad.mit.edu 37 14 70490103 70490103 + Silent SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:70490103G>T uc001xls.1 + 11 1483 c.1230G>T c.(1228-1230)CTG>CTT p.L410L SMOC1_uc001xlt.1_Silent_p.L410L NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 410 2 (Potential).|EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACTGTGACCTGAACAAAGACA 0.517 NaN 1 0 5.96743e-59 0.01441 6.9208e-59 113 127 C14orf43 91748 broad.mit.edu 37 14 74194193 74194193 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr14:74194193C>T uc001xot.2 - 5 2913 c.2130G>A c.(2128-2130)GTG>GTA p.V710V C14orf43_uc001xos.2_5'UTR|C14orf43_uc001xou.2_Silent_p.V710V|C14orf43_uc010tud.1_Silent_p.V710V|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) CCTCCCCCATCACAGAGAGGA 0.607 NaN 0 0 0 0.010729 0 10 40 OTUD7A 161725 broad.mit.edu 37 15 31795993 31795993 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:31795993C>T uc001zfq.2 - 7 994 c.901G>A c.(901-903)GAG>AAG p.E301K OTUD7A_uc001zfr.2_Missense_Mutation_p.E308K NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 301 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TCCAGGCTCTCGTACACGGGG 0.493 NaN 0 0 0 0.01441 0 52 69 RYR3 6263 broad.mit.edu 37 15 34105682 34105682 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:34105682G>A uc001zhi.2 + 74 10474 c.10404G>A c.(10402-10404)TTG>TTA p.L3468L RYR3_uc010bar.2_Silent_p.L3463L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3468 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACAGCCTTTGAGGTCCAAGA 0.532 NaN 0 0 0 0.005443 0 26 97 UNC13C 440279 broad.mit.edu 37 15 54306223 54306223 + Nonsense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:54306223C>T uc002ack.2 + 1 1123 c.1123C>T c.(1123-1125)CGA>TGA p.R375* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 375 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGCAAAGCCTCGACCCATACT 0.378 NaN 0 0 0 0.008361 0 29 26 SNX22 79856 broad.mit.edu 37 15 64446670 64446670 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:64446670C>G uc002anc.1 + 7 604 c.545C>G c.(544-546)GCG>GGG p.A182G SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 182 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 CAGCCAAAGGCGGCCTGTCAC 0.562 NaN 0 0 0 0.005524 0 34 199 LBXCOR1 390598 broad.mit.edu 37 15 68121571 68121571 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:68121571C>T uc002aqy.1 + 4 2239 c.2239C>T c.(2239-2241)CCC>TCC p.P747S NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 791 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 GGCGCTGGGGCCCGCGGCCTC 0.706 NaN 0 0 0 0.004672 0 2 3 MYO9A 4649 broad.mit.edu 37 15 72338071 72338071 + Silent SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:72338071T>C uc002atl.3 - 2 1307 c.834A>G c.(832-834)GTA>GTG p.V278V MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Silent_p.V278V|MYO9A_uc002atn.1_Silent_p.V278V NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 278 Myosin head-like 1. 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 TTACCTCAAGTACTGGTCCAG 0.303 NaN 0 0 0 0.019004 0 35 43 MAN2A2 4122 broad.mit.edu 37 15 91448546 91448546 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:91448546G>C uc010bnz.2 + 3 313 c.198G>C c.(196-198)GAG>GAC p.E66D MAN2A2_uc010boa.2_Missense_Mutation_p.E108D|MAN2A2_uc002bqc.2_Missense_Mutation_p.E66D|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 66 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AGAACCATGAGATTATCAGCC 0.552 NaN 0 0 0 0.01441 0 69 65 TARSL2 123283 broad.mit.edu 37 15 102211921 102211921 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr15:102211921C>T uc002bxm.2 - 14 1874 c.1819G>A c.(1819-1821)GAA>AAA p.E607K TARSL2_uc002bxl.2_Missense_Mutation_p.E152K|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 607 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCACGGTTCTCCAAAGTCC 0.348 NaN 0 0 0 0.014758 0 4 83 PTX4 390667 broad.mit.edu 37 16 1535988 1535988 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr16:1535988G>A uc010uvf.1 - 3 1374 c.1374C>T c.(1372-1374)GGC>GGT p.G458G NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 463 Pentaxin. extracellular region metal ion binding 0 GCACAAATCCGCCTGCTAGTG 0.657 NaN 0 0 0 0.004672 0 3 33 CDR2 1039 broad.mit.edu 37 16 22385609 22385609 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr16:22385609C>G uc002dkn.2 - 1 330 c.22G>C c.(22-24)GAG>CAG p.E8Q NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 8 nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) TCAAACTCCTCTACCAGGTTT 0.547 NaN 0 0 0 0.01892 0 22 22 LAT 27040 broad.mit.edu 37 16 28997204 28997204 + Missense_Mutation SNP G G A rs150635404 byFrequency TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr16:28997204G>A uc002dsd.2 + 3 510 c.158G>A c.(157-159)CGG>CAG p.R53Q uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.R89Q|LAT_uc002dsb.2_Missense_Mutation_p.R53Q|LAT_uc002dsc.2_Missense_Mutation_p.R53Q|LAT_uc010vdk.1_Missense_Mutation_p.R53Q|LAT_uc010vdl.1_Missense_Mutation_p.R53Q NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 53 Cytoplasmic (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) CAGTTCAAACGGCCTCGTGAG 0.607 NaN 0 0 0 0.01441 0 107 174 ZFHX3 463 broad.mit.edu 37 16 72984605 72984605 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr16:72984605G>A uc002fck.2 - 3 3652 c.2979C>T c.(2977-2979)ACC>ACT p.T993T ZFHX3_uc002fcl.2_Silent_p.T79T NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 993 C2H2-type 7; atypical. 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) CCTTGAGCTGGGTGTTGTAGC 0.607 NaN 0 0 0 0.011902 0 43 33 MYH1 4619 broad.mit.edu 37 17 10411687 10411687 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:10411687C>T uc002gmo.2 - 16 1984 c.1890G>A c.(1888-1890)GCG>GCA p.A630A uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 630 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TACCTGCTTCCGCTCCCGTTG 0.338 NaN 0 0 0 0.01441 0 105 139 DNAH9 1770 broad.mit.edu 37 17 11622799 11622799 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:11622799G>T uc002gne.2 + 27 5769 c.5701G>T c.(5701-5703)GAT>TAT p.D1901Y DNAH9_uc010coo.2_Missense_Mutation_p.D1195Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1901 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAGCAGATGGATTACAAGGT 0.612 NaN 1 0 6.31663e-08 0.003163 6.91653e-08 14 76 PIGW 284098 broad.mit.edu 37 17 34893433 34893433 + Silent SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:34893433C>G uc002hmy.1 + 2 526 c.483C>G c.(481-483)CTC>CTG p.L161L MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L161L NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 161 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAACTGAGCTCTATGGGACAG 0.448 NaN 0 0 0 0.00623 0 38 189 CNTNAP1 8506 broad.mit.edu 37 17 40837383 40837383 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:40837383C>T uc002iay.2 + 5 876 c.660C>T c.(658-660)GGC>GGT p.G220G CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 220 Laminin G-like 1.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCGCCCAGGGCGACTACGTGA 0.662 NaN 0 0 0 0.00874 0 39 39 NBR1 4077 broad.mit.edu 37 17 41342744 41342744 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:41342744C>G uc010czd.2 + 9 954 c.814C>G c.(814-816)CAC>GAC p.H272D NBR1_uc010diz.2_Missense_Mutation_p.H272D|NBR1_uc010whu.1_Missense_Mutation_p.H272D|NBR1_uc010whv.1_Missense_Mutation_p.H272D|NBR1_uc010whw.1_Missense_Mutation_p.H251D|NBR1_uc010whx.1_Missense_Mutation_p.H81D NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 272 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) ACCGTTCTGTCACTCAAAGTA 0.483 NaN 0 0 0 0.006999 0 38 30 ARSG 22901 broad.mit.edu 37 17 66366656 66366656 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr17:66366656A>G uc002jhc.2 + 8 1769 c.973A>G c.(973-975)ACT>GCT p.T325A ARSG_uc002jhb.1_Missense_Mutation_p.T161A NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 325 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ATTTTGGCAAACTCGTCAAGG 0.557 NaN 0 0 0 0.009096 0 4 64 KIAA1468 57614 broad.mit.edu 37 18 59949606 59949606 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr18:59949606C>G uc002lil.2 + 25 3397 c.3182C>G c.(3181-3183)TCT>TGT p.S1061C KIAA1468_uc010xel.1_Missense_Mutation_p.S1061C|KIAA1468_uc002lim.2_Missense_Mutation_p.S739C NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 1061 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GACCAACATTCTTTGCATACA 0.393 NaN 0 0 0 0.01441 0 72 78 LDLR 3949 broad.mit.edu 37 19 11224428 11224428 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:11224428C>T uc002mqk.3 + 10 1744 c.1576C>T c.(1576-1578)CCT>TCT p.P526S LDLR_uc010xlk.1_Missense_Mutation_p.P526S|LDLR_uc010xll.1_Missense_Mutation_p.P485S|LDLR_uc010xlm.1_Missense_Mutation_p.P379S|LDLR_uc010xln.1_Missense_Mutation_p.P399S|LDLR_uc010xlo.1_Missense_Mutation_p.P358S NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 526 Extracellular (Potential).|LDL-receptor class B 3. P -> S (in Cincinnati-3). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGTGGTGGATCCTGTTCATGG 0.522 NaN 0 0 0 0.009718 0 43 46 PLAUR 5329 broad.mit.edu 37 19 44169567 44169567 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:44169567C>G uc002oxf.1 - 3 441 c.211G>C c.(211-213)GAG>CAG p.E71Q PLAUR_uc002oxd.1_Missense_Mutation_p.E71Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E66Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E71Q NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 71 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TTGGTCTTCTCTGAGTGGGTA 0.547 NaN 0 0 0 0.015359 0 27 82 PLAUR 5329 broad.mit.edu 37 19 44169588 44169588 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:44169588C>G uc002oxf.1 - 3 420 c.190G>C c.(190-192)GAG>CAG p.E64Q PLAUR_uc002oxd.1_Missense_Mutation_p.E64Q|PLAUR_uc002oxe.1_Missense_Mutation_p.E59Q|PLAUR_uc002oxg.1_Missense_Mutation_p.E64Q NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 64 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) CAGCTTTTCTCCACCAGCTCC 0.542 NaN 0 0 0 0.007291 0 26 84 ZNF221 7638 broad.mit.edu 37 19 44471003 44471003 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:44471003A>G uc002oxx.2 + 6 1677 c.1349A>G c.(1348-1350)TAT>TGT p.Y450C ZNF221_uc010ejb.1_Missense_Mutation_p.Y450C|ZNF221_uc010xws.1_Missense_Mutation_p.Y450C NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 450 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) GAAAAGCCATATAACTGTGAG 0.423 NaN 0 0 0 0.006214 0 10 83 CACNG8 59283 broad.mit.edu 37 19 54483190 54483190 + Missense_Mutation SNP T T G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:54483190T>G uc002qcs.1 + 3 540 c.434T>G c.(433-435)GTG>GGG p.V145G MIR935_hsa-mir-935|MI0005757_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 146 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGTGTGTGCGTGGCGGCCTCC 0.647 NaN 0 0 0 0.009096 0 4 21 PXDN 7837 broad.mit.edu 37 2 1652125 1652125 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:1652125G>T uc002qxa.2 - 17 3491 c.3427C>A c.(3427-3429)CTG>ATG p.L1143M NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1143 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) ATGGAGAACAGCCGCTCCGTG 0.652 NaN 1 0 0.00909568 0.009096 0.00943256 3 31 C2orf44 80304 broad.mit.edu 37 2 24253912 24253912 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:24253912G>C uc002rep.2 - 4 2188 c.2057C>G c.(2056-2058)TCT>TGT p.S686C C2orf44_uc010eya.2_3'UTR NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 686 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAGAAAAAGAGTCTCTGAA 0.473 NaN 0 0 0 0.016723 0 14 64 USP34 9736 broad.mit.edu 37 2 61415533 61415533 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:61415533C>G uc002sbe.2 - 80 10367 c.10345G>C c.(10345-10347)GAA>CAA p.E3449Q USP34_uc002sbd.2_Missense_Mutation_p.E251Q NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3449 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TCTTTAAATTCTTTACAATCG 0.418 NaN 0 0 0 0.007291 0 30 118 USP34 9736 broad.mit.edu 37 2 61607465 61607465 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:61607465G>A uc002sbe.2 - 7 875 c.853C>T c.(853-855)CGA>TGA p.R285* NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 285 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GCACTCTGTCGTAACTCCTGA 0.368 NaN 0 0 0 0.006214 0 8 74 TANC1 85461 broad.mit.edu 37 2 160033027 160033027 + Missense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:160033027C>A uc002uag.2 + 13 2174 c.1900C>A c.(1900-1902)CAG>AAG p.Q634K TANC1_uc010fol.1_Missense_Mutation_p.Q528K|TANC1_uc010zcm.1_Missense_Mutation_p.Q626K|TANC1_uc010fom.1_Missense_Mutation_p.Q440K|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 634 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AGCAAATTTTCAGGTAACAAA 0.323 NaN 1 0 1.67942e-08 0.006122 1.84924e-08 16 55 TTN 7273 broad.mit.edu 37 2 179616159 179616159 + Silent SNP A A C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:179616159A>C uc002unb.2 - 46 11192 c.10968T>G c.(10966-10968)ACT>ACG p.T3656T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAAATGTATAGTTCTCATCA 0.348 NaN 0 0 0 0.001168 0 6 121 ITGA4 3676 broad.mit.edu 37 2 182359492 182359492 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:182359492G>A uc002unu.2 + 12 2055 c.1292G>A c.(1291-1293)GGA>GAA p.G431E NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 431 FG-GAP 7.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGTATGTTTGGACAGTCTATA 0.308 NaN 0 0 0 0.00308 0 5 148 PMS1 5378 broad.mit.edu 37 2 190719590 190719590 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:190719590A>G uc002urh.3 + 9 2121 c.1592A>G c.(1591-1593)AAT>AGT p.N531S PMS1_uc010zga.1_Missense_Mutation_p.N492S|PMS1_uc010zgb.1_Missense_Mutation_p.N470S|PMS1_uc002urk.3_Missense_Mutation_p.N492S|PMS1_uc002uri.3_Missense_Mutation_p.N531S|PMS1_uc010zgc.1_Missense_Mutation_p.N355S|PMS1_uc010zgd.1_Missense_Mutation_p.N355S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.N492S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N316S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.N199S NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 531 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GTAAGTAATAATAATTATCCA 0.284 NaN Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 0 0 0 0.013726 0 33 33 SF3B1 23451 broad.mit.edu 37 2 198265453 198265453 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:198265453C>T uc002uue.2 - 18 2752 c.2704G>A c.(2704-2706)GAA>AAA p.E902K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 902 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTAGTCTGTTCTTGGAAAGCA 0.318 NaN 0 0 0 0.01441 0 87 37 SATB2 23314 broad.mit.edu 37 2 200137185 200137185 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:200137185G>A uc002uuy.1 - 11 2768 c.1951C>T c.(1951-1953)CAG>TAG p.Q651* SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651* NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 651 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 AGATCCAGCTGAGCCGAAAGA 0.542 NaN 0 0 0 0.007413 0 20 108 VIL1 7429 broad.mit.edu 37 2 219290520 219290520 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:219290520C>T uc002via.2 + 4 398 c.333C>T c.(331-333)TTC>TTT p.F111F VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.F111F|VIL1_uc002vic.1_Silent_p.F111F NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 111 Core.|Necessary for homodimerization. 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) GAGGCTACTTCAAGCAAGGCC 0.612 NaN 0 0 0 0.006999 0 39 30 SLC23A3 151295 broad.mit.edu 37 2 220034109 220034109 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:220034109G>C uc010zks.1 - 3 451 c.340C>G c.(340-342)CCA>GCA p.P114A NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P114A|SLC23A3_uc010fwb.2_Missense_Mutation_p.P114A|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 114 Cytoplasmic (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTAAGGATGGAGCCTGGACA 0.597 NaN 0 0 0 0.01441 0 93 60 OBSL1 23363 broad.mit.edu 37 2 220422740 220422740 + Missense_Mutation SNP G G A rs143517287 by1000genomes TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:220422740G>A uc010fwk.2 - 11 3652 c.3595C>T c.(3595-3597)CGG>TGG p.R1199W OBSL1_uc002vmh.1_Missense_Mutation_p.R190W|OBSL1_uc010zli.1_Missense_Mutation_p.R98W|OBSL1_uc010fwl.1_Missense_Mutation_p.R674W NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1199 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCGCCAGCCCGGGACAGTTCA 0.667 NaN 0 0 0 0.010729 0 11 15 CAPN10 11132 broad.mit.edu 37 2 241536312 241536312 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:241536312C>T uc002vzk.1 + 9 1880 c.1696C>T c.(1696-1698)CGG>TGG p.R566W CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.R438W|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 566 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TCAGCACTGCCGGCCCAGTGA 0.647 NaN 0 0 0 0.00632 0 27 25 GZF1 64412 broad.mit.edu 37 20 23351021 23351021 + Silent SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:23351021G>C uc010gdb.2 + 7 2253 c.2079G>C c.(2077-2079)CTG>CTC p.L693L GZF1_uc002wsy.2_Silent_p.L693L|GZF1_uc010zsq.1_Silent_p.L217L|GZF1_uc010zsr.1_Silent_p.L202L|GZF1_uc002wsz.2_Silent_p.L693L NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 693 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TTAGCGAGCTGACCCCACAGA 0.547 NaN 0 0 0 0.006999 0 40 95 MYH7B 57644 broad.mit.edu 37 20 33577935 33577935 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:33577935C>T uc002xbi.1 + 19 2104 c.2012C>T c.(2011-2013)GCG>GTG p.A671V MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 629 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGAATTATGCGGGCTCCTGC 0.547 NaN 0 0 0 0.001168 0 6 224 SRC 6714 broad.mit.edu 37 20 36012573 36012573 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:36012573G>A uc002xgx.2 + 4 466 c.17G>A c.(16-18)AGC>AAC p.S6N SRC_uc002xgy.2_Missense_Mutation_p.S6N NM_005417 NP_005408 P12931 SRC_HUMAN proto-oncogene tyrosine-protein kinase SRC 6 axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1) 13 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) AGCAACAAGAGCAAGCCCAAG 0.701 NaN 0 0 0 0.016723 0 10 10 LPIN3 64900 broad.mit.edu 37 20 39986944 39986944 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:39986944C>T uc002xjx.2 + 18 2351 c.2260C>T c.(2260-2262)CTG>TTG p.L754L LPIN3_uc010ggh.2_Silent_p.L755L|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 754 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) GCAGCTGTTTCTGCCCCACGG 0.602 NaN 0 0 0 0.007835 0 37 49 ZNF335 63925 broad.mit.edu 37 20 44579219 44579219 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:44579219G>C uc002xqw.2 - 21 3328 c.3205C>G c.(3205-3207)CAC>GAC p.H1069D ZNF335_uc002xqv.2_Missense_Mutation_p.H181D|ZNF335_uc010zxk.1_Missense_Mutation_p.H914D NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1069 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) AGGCTTGAGTGCTGTGCCATG 0.597 NaN 0 0 0 0.00632 0 30 219 TCFL5 10732 broad.mit.edu 37 20 61490866 61490866 + Missense_Mutation SNP A A C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:61490866A>C uc002ydp.2 - 3 937 c.844T>G c.(844-846)TCA>GCA p.S282A TCFL5_uc002ydo.2_Missense_Mutation_p.S55A|TCFL5_uc002ydq.2_Missense_Mutation_p.S282A NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 282 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) ACAGAACATGAGTTACTAGAA 0.368 NaN 0 0 0 0.004007 0 17 99 OPRL1 4987 broad.mit.edu 37 20 62724217 62724217 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:62724217C>T uc002yic.2 + 3 546 c.144C>T c.(142-144)CTC>CTT p.L48L OPRL1_uc002yid.2_Silent_p.L48L|OPRL1_uc002yif.3_Silent_p.L48L NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 48 Extracellular (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCCTGCCCCTCGGGCTCAAGG 0.652 NaN 0 0 0 0.01441 0 61 95 KRTAP21-1 337977 broad.mit.edu 37 21 32127524 32127524 + Missense_Mutation SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr21:32127524T>C uc011adi.1 - 1 173 c.173A>G c.(172-174)TAT>TGT p.Y58C NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 58 intermediate filament breast(1) 1 GCCAGagccatatccacagcc 0.219 NaN 0 0 0 0.014758 0 5 147 KRTAP12-3 386683 broad.mit.edu 37 21 46078007 46078007 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr21:46078007C>T uc002zft.2 + 1 159 c.111C>T c.(109-111)CCC>CCT p.P37P C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN keratin associated protein 12-3 37 5.|14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1) 1 TGTGCATGCCCGTGAGCTGCA 0.652 NaN 0 0 0 0.00499 0 16 220 FBXO7 25793 broad.mit.edu 37 22 32889255 32889255 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr22:32889255G>A uc003amq.2 + 7 1414 c.1131G>A c.(1129-1131)CTG>CTA p.L377L FBXO7_uc003amr.2_Silent_p.L263L|FBXO7_uc003ams.2_Silent_p.L221L|FBXO7_uc003amt.2_Silent_p.L298L|FBXO7_uc003amu.2_Silent_p.L263L|FBXO7_uc003amv.2_Silent_p.L76L NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 377 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 TTTTATATCTGCGTGATTTTC 0.413 NaN 0 0 0 0.008291 0 10 200 CNTN6 27255 broad.mit.edu 37 3 1363500 1363500 + Missense_Mutation SNP G G T rs149799168 byFrequency TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:1363500G>T uc003boz.2 + 8 1195 c.928G>T c.(928-930)GGT>TGT p.G310C CNTN6_uc011asj.1_Missense_Mutation_p.G238C|CNTN6_uc003bpa.2_Missense_Mutation_p.G310C NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 310 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CCTTGCAAAGGGTCAACTCAT 0.358 NaN 1 0 1.22574e-08 0.014323 1.35731e-08 21 98 EFHB 151651 broad.mit.edu 37 3 19938244 19938244 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:19938244G>A uc003cbl.3 - 9 1856 c.1660C>T c.(1660-1662)CAC>TAC p.H554Y EFHB_uc003cbm.2_Missense_Mutation_p.H424Y NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 554 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TTCTTCAGGTGATGCCGAACT 0.458 NaN 0 0 0 0.013726 0 36 72 RAB5A 5868 broad.mit.edu 37 3 20019815 20019815 + Missense_Mutation SNP A A C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:20019815A>C uc003cbn.2 + 5 987 c.452A>C c.(451-453)TAT>TCT p.Y151S RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.Y137S NM_004162 NP_004153 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 151 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity 0 GCACAGTCCTATGCAGATGAC 0.308 NaN 0 0 0 0.01441 0 58 102 QARS 5859 broad.mit.edu 37 3 49135633 49135633 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:49135633G>A uc003cvx.2 - 22 2148 c.2143C>T c.(2143-2145)CTG>TTG p.L715L QARS_uc011bcc.1_Silent_p.L168L|QARS_uc011bcd.1_Silent_p.L570L|QARS_uc003cvy.2_Silent_p.L570L|QARS_uc011bce.1_Silent_p.L704L NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 715 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) ACCAGGTTCAGGTCACTTAAA 0.552 NaN 0 0 0 0.004007 0 15 130 MST1 4485 broad.mit.edu 37 3 49721756 49721756 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:49721756C>T uc003cxg.2 - 17 2079 c.2007G>A c.(2005-2007)GGG>GGA p.G669G NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 655 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTCACAGGCCCCCACAGGGG 0.567 NaN 0 0 0 0.01441 0 56 62 RNF123 63891 broad.mit.edu 37 3 49736242 49736242 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:49736242C>G uc003cxh.2 + 9 711 c.625C>G c.(625-627)CTG>GTG p.L209V RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 209 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TGATGGCACTCTGTCCTTCTG 0.632 NaN 0 0 0 0.012213 0 34 44 AMIGO3 386724 broad.mit.edu 37 3 49756064 49756064 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:49756064G>C uc003cxj.2 - 1 1175 c.835C>G c.(835-837)CTT>GTT p.L279V RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 279 Extracellular (Potential).|Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTAGGCCAAGAGCTGGGGCC 0.647 NaN 0 0 0 0.005443 0 26 34 GNAT1 2779 broad.mit.edu 37 3 50231195 50231195 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:50231195C>T uc003cym.2 + 5 575 c.459C>T c.(457-459)TCC>TCT p.S153S GNAT1_uc003cyl.2_Silent_p.S153S NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 153 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCTACCTCTCCGACCTGGAGC 0.512 NaN 0 0 0 0.001984 0 7 16 CACNA2D2 9254 broad.mit.edu 37 3 50402325 50402325 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:50402325G>T uc003daq.2 - 38 3344 c.3306C>A c.(3304-3306)AAC>AAA p.N1102K CACNA2D2_uc003dap.2_Missense_Mutation_p.N1095K|CACNA2D2_uc003dao.2_Missense_Mutation_p.N175K NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 1102 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCACTGTCGCGTTGTAGTCGA 0.592 NaN 1 0 1.28384e-07 0.012319 1.39023e-07 19 25 PLSCR4 57088 broad.mit.edu 37 3 145917695 145917695 + Missense_Mutation SNP G G A rs34036393 TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:145917695G>A uc010huy.2 - 6 858 c.529C>T c.(529-531)CGG>TGG p.R177W PLSCR4_uc010huz.2_Missense_Mutation_p.R177W|PLSCR4_uc003evt.3_Missense_Mutation_p.R177W|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 177 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 TCAGTGACCCGGAGGACGAAG 0.483 NaN 0 0 0 0.001168 0 6 71 ECE2 9718 broad.mit.edu 37 3 184009213 184009213 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:184009213G>A uc003fni.3 + 18 2499 c.2461G>A c.(2461-2463)GTG>ATG p.V821M ECE2_uc011brh.1_3'UTR|ECE2_uc003fnl.3_Missense_Mutation_p.V749M|ECE2_uc003fnm.3_Missense_Mutation_p.V703M|ECE2_uc003fnk.3_Missense_Mutation_p.V674M|ECE2_uc011bri.1_Missense_Mutation_p.V736M NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 821 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCTTCTTCGTGGGATTTGC 0.587 NaN 0 0 0 0.01892 0 21 85 MUC4 4585 broad.mit.edu 37 3 195477929 195477929 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:195477929C>T uc011bto.1 - 24 15778 c.15318G>A c.(15316-15318)TCG>TCA p.S5106S MUC4_uc010hzq.2_Silent_p.S91S|MUC4_uc003fuz.2_Silent_p.S832S|MUC4_uc003fva.2_Silent_p.S714S|MUC4_uc003fvb.2_Silent_p.S750S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.S750S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.S714S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S798S|MUC4_uc011bti.1_Silent_p.S798S|MUC4_uc011btj.1_Silent_p.S975S|MUC4_uc011btk.1_Silent_p.S714S|MUC4_uc011btl.1_Silent_p.S743S|MUC4_uc011btm.1_Silent_p.S923S|MUC4_uc011btn.1_Silent_p.S714S|MUC4_uc003fvo.2_Silent_p.S998S|MUC4_uc003fvp.2_Silent_p.S947S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1991 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) ACTGGAACTCCGAGATGACCA 0.652 NaN 0 0 0 0.010729 0 11 91 POLN 353497 broad.mit.edu 37 4 2130948 2130948 + Missense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:2130948C>A uc003ger.2 - 16 1825 c.1825G>T c.(1825-1827)GCC>TCC p.A609S POLN_uc010icg.1_Missense_Mutation_p.A57S|POLN_uc010ich.1_Missense_Mutation_p.A141S NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 609 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ACAAACATGGCCCTCGGGGAG 0.403 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 1 0 2.24893e-16 0.009718 2.5188e-16 37 61 HGFAC 3083 broad.mit.edu 37 4 3451002 3451002 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:3451002C>T uc003ghc.2 + 14 1827 c.1824C>T c.(1822-1824)GGC>GGT p.G608G HGFAC_uc010icw.2_Silent_p.G615G NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 608 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGAAGAACGGCGTGGCTTACC 0.677 NaN 0 0 0 0.015359 0 32 70 CNGA1 1259 broad.mit.edu 37 4 47939675 47939675 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:47939675G>A uc003gxt.3 - 11 1102 c.836C>T c.(835-837)TCT>TTT p.S279F uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.S348F NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 279 Extracellular (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 AAACATACGAGAGAACCGTAA 0.358 NaN 0 0 0 0.015359 0 37 78 EPHA5 2044 broad.mit.edu 37 4 66201800 66201800 + Missense_Mutation SNP A A T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:66201800A>T uc003hcy.2 - 16 2895 c.2702T>A c.(2701-2703)ATG>AAG p.M901K EPHA5_uc003hcx.2_Missense_Mutation_p.M833K|EPHA5_uc003hcz.2_Missense_Mutation_p.M879K|EPHA5_uc011cah.1_Missense_Mutation_p.M902K|EPHA5_uc011cai.1_Missense_Mutation_p.M880K|EPHA5_uc003hda.2_Missense_Mutation_p.M902K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 901 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AGGACAATCCATGGGGCTTGG 0.448 NaN TSP Lung(17;0.13) 0 0 0 0.009096 0 4 66 USO1 8615 broad.mit.edu 37 4 76692248 76692248 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:76692248G>C uc003hiu.2 + 6 688 c.513G>C c.(511-513)TTG>TTC p.L171F USO1_uc003hiv.2_Missense_Mutation_p.L6F|USO1_uc003hiw.2_Missense_Mutation_p.L6F NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 171 Globular head.|ARM 3. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTCAAGATTGATGGACTTAC 0.308 NaN 0 0 0 0.013537 0 11 34 BMP2K 55589 broad.mit.edu 37 4 79763561 79763561 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:79763561G>T uc003hlk.2 + 4 592 c.426G>T c.(424-426)ATG>ATT p.M142I BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.M142I NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 142 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 TGAATCAAATGAATAAGAAGC 0.343 NaN 1 0 0.000157383 0.00308 0.000167647 7 45 ANK2 287 broad.mit.edu 37 4 114251495 114251495 + Silent SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:114251495T>C uc003ibe.3 + 27 3094 c.2994T>C c.(2992-2994)TGT>TGC p.C998C ANK2_uc003ibd.3_Silent_p.C989C|ANK2_uc003ibf.3_Silent_p.C998C|ANK2_uc011cgc.1_Silent_p.C207C|ANK2_uc003ibg.3_Silent_p.C26C|ANK2_uc003ibc.2_Silent_p.C974C|ANK2_uc011cgb.1_Silent_p.C1013C NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 998 ZU5.|Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTCGGAAATGTACTGCTCCAA 0.537 NaN 0 0 0 0.014758 0 5 60 DCHS2 54798 broad.mit.edu 37 4 155160322 155160322 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:155160322C>T uc003inw.2 - 24 6127 c.6127G>A c.(6127-6129)GGC>AGC p.G2043S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2043 Cadherin 18. 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) AATAACTCACCATTCTTAGGA 0.368 NaN 0 0 0 0.004482 0 6 45 GUCY1A3 2982 broad.mit.edu 37 4 156634276 156634276 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:156634276C>G uc003iov.2 + 8 1649 c.1113C>G c.(1111-1113)ATC>ATG p.I371M GUCY1A3_uc010iqc.2_Missense_Mutation_p.I371M|GUCY1A3_uc003iow.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqd.2_Missense_Mutation_p.I370M|GUCY1A3_uc003iox.2_Missense_Mutation_p.I371M|GUCY1A3_uc003ioz.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ioy.2_Missense_Mutation_p.I371M|GUCY1A3_uc010iqe.2_Missense_Mutation_p.I136M|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.I371M NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 371 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GCCAAATGATCTACATTGTTG 0.423 NaN 0 0 0 0.00632 0 28 68 MARCH1 55016 broad.mit.edu 37 4 164534483 164534483 + Silent SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:164534483G>T uc003iqs.1 - 5 1202 c.225C>A c.(223-225)TCC>TCA p.S75S MARCH1_uc003iqr.1_Silent_p.S58S NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 75 RING-CH-type. antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTCCTGAGTGGATGGACAGA 0.418 NaN 1 0 4.47668e-21 0.021523 5.07184e-21 24 91 FBXO8 26269 broad.mit.edu 37 4 175158643 175158643 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:175158643G>A uc003itp.2 - 6 1730 c.880C>T c.(880-882)CGC>TGC p.R294C FBXO8_uc003itq.2_Missense_Mutation_p.R253C NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN F-box only protein 8 294 regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(2) 2 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) TGAGCAGCGCGACGGGTATTT 0.383 NaN 0 0 0 0.006122 0 19 54 HELT 391723 broad.mit.edu 37 4 185941788 185941788 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr4:185941788G>A uc011ckq.1 + 4 846 c.846G>A c.(844-846)CCG>CCA p.P282P HELT_uc011cko.1_Silent_p.P197P|HELT_uc003ixa.3_Silent_p.P196P|HELT_uc011ckp.1_Silent_p.P140P NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 282 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CGCCAGTGCCGCTCGCTAGCC 0.741 NaN 0 0 0 0.009096 0 4 32 DNAH5 1767 broad.mit.edu 37 5 13865842 13865842 + Silent SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:13865842A>G uc003jfd.2 - 27 4332 c.4290T>C c.(4288-4290)TAT>TAC p.Y1430Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1430 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAAGAATATCATAATAGCTAT 0.313 NaN Kartagener_syndrome 0 0 0 0.020292 0 15 114 MAST4 375449 broad.mit.edu 37 5 66462291 66462291 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:66462291G>A uc003jut.1 + 28 6785 c.6717G>A c.(6715-6717)CCG>CCA p.P2239P MAST4_uc003juw.2_Silent_p.P2167P|MAST4_uc003jux.2_5'UTR NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2431 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAAGCCACCGACGGAGGCAG 0.652 NaN OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014758 0 3 4 SNCAIP 9627 broad.mit.edu 37 5 121786336 121786336 + Silent SNP T T A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:121786336T>A uc003ksw.1 + 10 2000 c.1794T>A c.(1792-1794)CTT>CTA p.L598L SNCAIP_uc011cwl.1_Silent_p.L156L|SNCAIP_uc003ksx.1_Silent_p.L645L|SNCAIP_uc003ksy.1_Silent_p.L232L|SNCAIP_uc003ksz.1_Silent_p.L232L|SNCAIP_uc010jcu.2_Silent_p.L194L|SNCAIP_uc011cwm.1_Silent_p.L232L|SNCAIP_uc003kta.1_Silent_p.L230L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L292L|SNCAIP_uc010jcx.1_Silent_p.L538L|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Silent_p.L114L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 598 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTCAGGTTCTTGGAAGCCTGT 0.478 NaN 0 0 0 0.014758 0 5 144 PDLIM4 8572 broad.mit.edu 37 5 131607548 131607548 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:131607548G>A uc003kwn.2 + 6 812 c.735G>A c.(733-735)CCG>CCA p.P245P uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Silent_p.P353P NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 245 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGGCGCTCCGCTGAGCGGCC 0.726 NaN 0 0 0 0.00308 0 8 21 SEC24A 10802 broad.mit.edu 37 5 134041037 134041037 + Missense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:134041037C>A uc003kzs.2 + 17 2749 c.2461C>A c.(2461-2463)CAT>AAT p.H821N SEC24A_uc011cxu.1_Missense_Mutation_p.H585N NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 821 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 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATTCGTGTTCATACTTTGTG 0.373 NaN 1 0 4.17463e-26 0.01441 4.78495e-26 56 112 SEC24A 10802 broad.mit.edu 37 5 134041067 134041067 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:134041067C>T uc003kzs.2 + 17 2779 c.2491C>T c.(2491-2493)CTG>TTG p.L831L SEC24A_uc011cxu.1_Silent_p.L595L NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 831 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 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTTTCGACTCTGAATGATGT 0.358 NaN 0 0 0 0.01441 0 61 128 PCDHB1 29930 broad.mit.edu 37 5 140432966 140432966 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:140432966G>T uc003lik.1 + 1 1988 c.1911G>T c.(1909-1911)ATG>ATT p.M637I NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 637 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGACCCCATGATGCAGAAAT 0.433 NaN 1 0 2.17888e-05 0.006214 2.33366e-05 8 274 PCDHGA1 56114 broad.mit.edu 37 5 140712541 140712541 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:140712541C>T uc003lji.1 + 1 2290 c.2290C>T c.(2290-2292)CGG>TGG p.R764W PCDHGA1_uc011dan.1_Missense_Mutation_p.R764W NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 764 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGACTCGCGGAAGAGCCA 0.582 NaN 0 0 0 0.004482 0 7 222 PCDHGB2 56103 broad.mit.edu 37 5 140741617 140741617 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:140741617C>T uc003ljs.1 + 1 1915 c.1915C>T c.(1915-1917)CGC>TGC p.R639C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R639C|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 639 Extracellular (Potential).|Cadherin 6. 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) GGACGCGGCCCGCCAGCGCCT 0.682 NaN 0 0 0 0.010729 0 11 20 GPR151 134391 broad.mit.edu 37 5 145895383 145895383 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:145895383C>T uc003lod.1 - 1 294 c.294G>A c.(292-294)GCG>GCA p.A98A NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 98 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTGGAGTACGCCGTAGCTC 0.512 NaN 0 0 0 0.009535 0 31 99 ODZ2 57451 broad.mit.edu 37 5 167689593 167689593 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr5:167689593G>C uc010jjd.2 + 29 8076 c.8076G>C c.(8074-8076)CAG>CAC p.Q2692H ODZ2_uc003lzr.3_Missense_Mutation_p.Q2462H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q2065H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1956H NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AGGCGAGACAGAGGGCCCTGG 0.657 NaN 0 0 0 0.004672 0 3 6 RIPK1 8737 broad.mit.edu 37 6 3104493 3104493 + Missense_Mutation SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:3104493G>C uc010jni.2 + 8 1182 c.950G>C c.(949-951)AGA>ACA p.R317T RIPK1_uc003muv.3_Missense_Mutation_p.R154T|RIPK1_uc003muw.3_Missense_Mutation_p.R252T|RIPK1_uc011dhs.1_Missense_Mutation_p.R271T|RIPK1_uc003mux.2_Missense_Mutation_p.R317T NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 317 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) GTTGTGAAGAGAATGCAGTCT 0.338 NaN 0 0 0 0.01441 0 56 51 FAM50B 26240 broad.mit.edu 37 6 3850910 3850910 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:3850910G>A uc003mvu.2 + 2 977 c.865G>A c.(865-867)GCG>ACG p.A289T NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 289 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) CGAGTCGCACGCGGGCAAGGT 0.642 NaN 0 0 0 0.01892 0 23 56 NUP153 9972 broad.mit.edu 37 6 17675597 17675597 + Missense_Mutation SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:17675597T>C uc003ncd.1 - 4 786 c.586A>G c.(586-588)ATA>GTA p.I196V NUP153_uc011dje.1_Missense_Mutation_p.I196V|NUP153_uc010jpl.1_Missense_Mutation_p.I196V NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 196 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GAAACAGTTATATCTGAAACA 0.353 NaN 0 0 0 0.004007 0 16 52 HIST1H3F 8968 broad.mit.edu 37 6 26250692 26250692 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:26250692C>T uc003nhg.1 - 1 144 c.142G>A c.(142-144)GCC>ACC p.A48T HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 48 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 TCACGGAGGGCGACAGTACCA 0.607 NaN 0 0 0 0.004656 0 21 134 TRIM26 7726 broad.mit.edu 37 6 30154266 30154266 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:30154266G>A uc003npr.2 - 9 1216 c.1007C>T c.(1006-1008)ACC>ATC p.T336I TRIM26_uc003nps.2_Missense_Mutation_p.T336I|TRIM26_uc010jry.2_Missense_Mutation_p.T66I|TRIM26_uc003npt.2_Missense_Mutation_p.T336I NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 336 B30.2/SPRY. DNA binding|zinc ion binding ovary(2)|lung(1) 3 GCTGGTGTAGGTCACGCACTT 0.577 NaN 0 0 0 0.009096 0 4 87 NOTCH4 4855 broad.mit.edu 37 6 32169171 32169171 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:32169171C>T uc003obb.2 - 22 4001 c.3862G>A c.(3862-3864)GAT>AAT p.D1288N NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1288 LNR 3.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GGGTCCCCATCTTCAGGCCTG 0.627 NaN 0 0 0 0.007413 0 20 45 TRERF1 55809 broad.mit.edu 37 6 42236137 42236137 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:42236137G>A uc003osd.2 - 5 1755 c.1192C>T c.(1192-1194)CAG>TAG p.Q398* TRERF1_uc011duq.1_Nonsense_Mutation_p.Q398*|TRERF1_uc003osb.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003osc.2_Nonsense_Mutation_p.Q237*|TRERF1_uc003ose.2_Nonsense_Mutation_p.Q398* NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 398 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTGGTGCTGGGACAGGTGG 0.627 NaN 0 0 0 0.01441 0 106 103 XPO5 57510 broad.mit.edu 37 6 43538336 43538336 + Missense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:43538336C>A uc003ovp.2 - 5 735 c.524G>T c.(523-525)AGA>ATA p.R175I NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 175 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GATGTCCCTTCTTCTTTGAGG 0.403 NaN 1 0 2.69673e-31 0.01441 3.10918e-31 73 355 MCM9 254394 broad.mit.edu 37 6 119232920 119232920 + Silent SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:119232920A>G uc003pyh.2 - 7 1308 c.1045T>C c.(1045-1047)TTA>CTA p.L349L NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 349 MCM. DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CCAACCAATAAAAGATGAGAT 0.368 NaN 0 0 0 0.013726 0 31 50 PTPRK 5796 broad.mit.edu 37 6 128411080 128411080 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:128411080G>A uc003qbk.2 - 8 1587 c.1220C>T c.(1219-1221)GCT>GTT p.A407V PTPRK_uc003qbj.2_Missense_Mutation_p.A407V|PTPRK_uc010kfc.2_Missense_Mutation_p.A407V|PTPRK_uc011ebu.1_Missense_Mutation_p.A407V|PTPRK_uc003qbl.1_Missense_Mutation_p.A277V|PTPRK_uc011ebv.1_Missense_Mutation_p.A407V NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 407 Extracellular (Potential).|Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCAGTCCACAGCAATCCGTCT 0.418 NaN 0 0 0 0.006214 0 9 78 GRM1 2911 broad.mit.edu 37 6 146350852 146350852 + Missense_Mutation SNP T T A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr6:146350852T>A uc010khw.1 + 2 669 c.199T>A c.(199-201)TGT>AGT p.C67S GRM1_uc010khu.1_Missense_Mutation_p.C67S|GRM1_uc010khv.1_Missense_Mutation_p.C67S|GRM1_uc003qll.2_Missense_Mutation_p.C67S|GRM1_uc011edz.1_Missense_Mutation_p.C67S|GRM1_uc011eea.1_Missense_Mutation_p.C67S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 67 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGAGAGGAAGTGTGGGGAGAT 0.592 NaN 0 0 0 0.009096 0 3 74 C7orf27 221927 broad.mit.edu 37 7 2586960 2586960 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:2586960G>A uc003smi.2 - 3 322 c.280C>T c.(280-282)CAG>TAG p.Q94* C7orf27_uc003smj.1_Nonsense_Mutation_p.Q94* NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 94 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) AGGCTCACCTGAAGATACTGG 0.602 NaN 0 0 0 0.010818 0 31 66 RADIL 55698 broad.mit.edu 37 7 4845343 4845343 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:4845343C>G uc003snj.1 - 10 2317 c.2144G>C c.(2143-2145)AGC>ACC p.S715T RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.S220T|RADIL_uc011jwc.1_Missense_Mutation_p.S475T|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_5'Flank NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 715 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGCTGTCCAGCTCATCTGGGT 0.662 NaN 0 0 0 0.010504 0 21 47 AUTS2 26053 broad.mit.edu 37 7 69583197 69583197 + Missense_Mutation SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:69583197G>T uc003tvw.3 + 3 1345 c.602G>T c.(601-603)AGC>ATC p.S201I AUTS2_uc003tvv.3_Missense_Mutation_p.S201I|AUTS2_uc003tvx.3_Missense_Mutation_p.S201I NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 201 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CACCGGAGCAGCTCTCGGGAA 0.438 NaN 1 0 0.000274275 0.004482 0.000290583 9 93 COL1A2 1278 broad.mit.edu 37 7 94047865 94047865 + Splice_Site SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:94047865G>A uc003ung.1 + 33 2496 c.2025_splice c.e33+1 p.R675_splice COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Splice_Site NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGCTCGTGTGAGTAGAAT 0.348 NaN HNSCC(75;0.22) 0 0 0 0.010771 0 40 75 C7orf58 79974 broad.mit.edu 37 7 120740100 120740100 + Silent SNP G G T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:120740100G>T uc003vjq.3 + 7 1317 c.870G>T c.(868-870)TCG>TCT p.S290S C7orf58_uc003vjr.1_Silent_p.S290S|C7orf58_uc003vjs.3_Silent_p.S290S|C7orf58_uc003vjt.3_Silent_p.S70S|C7orf58_uc010lkk.1_Silent_p.S70S NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 290 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TCATTCATTCGACGGGCACAG 0.423 NaN 1 0 9.78485e-24 0.013726 1.11502e-23 31 52 PLXNA4 91584 broad.mit.edu 37 7 131910975 131910975 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr7:131910975C>T uc003vra.3 - 8 2156 c.1927G>A c.(1927-1929)GGC>AGC p.G643S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 643 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 AAGGTCATGCCGGTCTCCTTT 0.557 NaN 0 0 0 0.01441 0 90 149 ESRP1 54845 broad.mit.edu 37 8 95674784 95674784 + Splice_Site SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr8:95674784G>A uc003ygq.3 + 6 827 c.644_splice c.e6+1 p.C215_splice ESRP1_uc003ygr.3_Splice_Site_p.C215_splice|ESRP1_uc003ygs.3_Splice_Site_p.C215_splice|ESRP1_uc003ygt.3_Splice_Site_p.C215_splice|ESRP1_uc003ygu.3_Splice_Site_p.C215_splice|ESRP1_uc003ygv.2_Splice_Site_p.C55_splice|ESRP1_uc003ygw.2_Splice_Site_p.C55_splice NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 GTGGAACTTGGTAAGTGCTTG 0.229 NaN 0 0 0 0.004007 0 14 25 TOPORS 10210 broad.mit.edu 37 9 32544237 32544237 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:32544237C>T uc003zrb.2 - 3 453 c.286G>A c.(286-288)GAT>AAT p.D96N TOPORS_uc003zrc.2_Missense_Mutation_p.D29N NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 96 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GGAGATGCATCAGCTGGTACT 0.388 NaN 0 0 0 0.001984 0 7 91 TOPORS 10210 broad.mit.edu 37 9 32544239 32544239 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:32544239G>A uc003zrb.2 - 3 451 c.284C>T c.(283-285)GCT>GTT p.A95V TOPORS_uc003zrc.2_Missense_Mutation_p.A28V NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 95 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AGATGCATCAGCTGGTACTGT 0.388 NaN 0 0 0 0.001984 0 7 90 IPPK 64768 broad.mit.edu 37 9 95397569 95397569 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:95397569G>A uc004asl.1 - 10 1215 c.938C>T c.(937-939)TCG>TTG p.S313L IPPK_uc004ask.1_Missense_Mutation_p.S12L NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 313 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 CGGTAACCCCGAGCGCTCTGG 0.552 NaN OREG0019315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 10 70 GABBR2 9568 broad.mit.edu 37 9 101258739 101258739 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:101258739C>T uc004ays.2 - 4 844 c.688G>A c.(688-690)GAG>AAG p.E230K NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 230 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGAAGCTCTCGGTGTCTGAA 0.542 NaN 0 0 0 0.008291 0 9 73 IKBKAP 8518 broad.mit.edu 37 9 111679867 111679867 + Missense_Mutation SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:111679867T>C uc004bdm.3 - 9 1344 c.824A>G c.(823-825)CAT>CGT p.H275R IKBKAP_uc004bdl.2_5'UTR|IKBKAP_uc011lwc.1_Missense_Mutation_p.H161R|IKBKAP_uc010mtq.2_5'UTR NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 275 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 AAAGTGTCCATGAAGGAGTCC 0.413 NaN 0 0 0 0.007413 0 20 132 ZNF883 169834 broad.mit.edu 37 9 115759604 115759604 + Missense_Mutation SNP C C G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:115759604C>G uc011lwy.1 - 5 2175 c.936G>C c.(934-936)CAG>CAC p.Q312H NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 312 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TATGCGTCCTCTGATGTCGAA 0.378 NaN 0 0 0 0.01441 0 81 135 COL27A1 85301 broad.mit.edu 37 9 116931561 116931561 + Missense_Mutation SNP A A G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:116931561A>G uc011lxl.1 + 3 1726 c.1726A>G c.(1726-1728)AGC>GGC p.S576G COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S426G NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 576 Pro-rich. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 AACCAGGCCTAGCCCCAGACA 0.667 NaN 0 0 0 0.003163 0 14 137 TNC 3371 broad.mit.edu 37 9 117849019 117849019 + Missense_Mutation SNP A A C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:117849019A>C uc004bjj.3 - 3 1353 c.991T>G c.(991-993)TAC>GAC p.Y331D TNC_uc010mvf.2_Missense_Mutation_p.Y331D NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 331 EGF-like 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCTTCGCAGTAGCAGGTGCCA 0.602 NaN 0 0 0 0.007413 0 19 119 DBC1 1620 broad.mit.edu 37 9 121930487 121930487 + Missense_Mutation SNP C C A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:121930487C>A uc004bkc.2 - 8 1617 c.1161G>T c.(1159-1161)TGG>TGT p.W387C NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 387 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CCCTTGCAAGCCACTGCTGAA 0.517 NaN 1 0 0.00198382 0.001984 0.00206824 6 22 CIZ1 25792 broad.mit.edu 37 9 130928556 130928556 + Nonsense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:130928556G>A uc004btt.2 - 17 2780 c.2617C>T c.(2617-2619)CAG>TAG p.Q873* CIZ1_uc004btr.2_Nonsense_Mutation_p.Q845*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q844*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q812*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q793*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q772*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q929*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q817*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q873* NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 873 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 GTTTTGTCCTGGGTGTTGGGC 0.662 NaN 0 0 0 0.001984 0 5 9 CRAT 1384 broad.mit.edu 37 9 131860642 131860642 + Missense_Mutation SNP T T C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:131860642T>C uc004bxh.2 - 10 1496 c.1214A>G c.(1213-1215)CAG>CGG p.Q405R CRAT_uc004bxg.2_Missense_Mutation_p.Q384R|CRAT_uc004bxk.3_Missense_Mutation_p.Q384R NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 405 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) ATCCAGGTCCTGGATCATGCT 0.587 NaN 0 0 0 0.01441 0 45 156 MED22 6837 broad.mit.edu 37 9 136211045 136211045 + Silent SNP G G C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:136211045G>C uc004cdc.2 - 4 582 c.348C>G c.(346-348)CTC>CTG p.L116L MED22_uc004cdd.2_Silent_p.L116L NM_133640 NP_598395 Q15528 MED22_HUMAN mediator complex subunit 22 isoform b 116 Potential. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) GCAGCGTGATGAGCTTCCGGT 0.577 NaN 0 0 0 0.013114 0 46 75 KIAA1984 84960 broad.mit.edu 37 9 139702037 139702037 + Silent SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:139702037C>T uc004cjf.2 + 14 1548 c.1500C>T c.(1498-1500)TTC>TTT p.F500F C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_Intron NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 500 ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CCTTCCAGTTCCCCGACATGG 0.617 NaN 0 0 0 0.001168 0 6 8 NDOR1 27158 broad.mit.edu 37 9 140109624 140109624 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:140109624G>A uc004clw.2 + 9 1254 c.1143G>A c.(1141-1143)CCG>CCA p.P381P NDOR1_uc004clx.2_Silent_p.P381P|NDOR1_uc011mes.1_Silent_p.P381P|NDOR1_uc004cly.2_Silent_p.P347P NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 381 FAD-binding FR-type.|FAD (By similarity). cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TTATCCGGCCGAGGGCCTTCT 0.647 NaN 0 0 0 0.016522 0 23 25 EHMT1 79813 broad.mit.edu 37 9 140707963 140707963 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr9:140707963G>A uc011mfc.1 + 21 3198 c.3161G>A c.(3160-3162)AGA>AAA p.R1054K EHMT1_uc004coe.2_5'Flank NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1054 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AACATCGACAGAAATATCACT 0.572 NaN 0 0 0 0.007413 0 17 33 DCAF8L1 139425 broad.mit.edu 37 X 27999131 27999131 + Missense_Mutation SNP C C T rs148567837 byFrequency TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chrX:27999131C>T uc004dbx.1 - 1 436 c.321G>A c.(319-321)ATG>ATA p.M107I NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 107 Glu-rich. ovary(3)|skin(1) 4 cttcctcctccatctcttctt 0.393 NaN 0 0 0 0.010504 0 22 44 FGD1 2245 broad.mit.edu 37 X 54496454 54496454 + Missense_Mutation SNP C C A rs140078362 by1000genomes TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chrX:54496454C>A uc004dtg.2 - 4 1830 c.1096G>T c.(1096-1098)GTG>TTG p.V366L FGD1_uc011moi.1_Missense_Mutation_p.V124L NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 366 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 AGTACCTCCACAGACTCCTGT 0.423 NaN 1 0 1.15919e-05 0.008871 1.24835e-05 18 4 SATL1 340562 broad.mit.edu 37 X 84363234 84363234 + Silent SNP G G A rs111730253 byFrequency TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chrX:84363234G>A uc011mqx.1 - 1 741 c.741C>T c.(739-741)GAC>GAT p.D247D SATL1_uc004een.2_Silent_p.D247D NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 60 Gln-rich. N-acetyltransferase activity breast(2) 2 ATTGGTTTGCGTCTGGTTGGC 0.473 NaN 0 0 0 0.009718 0 43 97 DCAF12L1 139170 broad.mit.edu 37 X 125686549 125686549 + Missense_Mutation SNP C C T TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chrX:125686549C>T uc004eul.2 - 1 294 c.43G>A c.(43-45)GCG>ACG p.A15T NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 15 skin(3)|ovary(1) 4 GCCTCGACCGCGGGCGCTTTC 0.512 NaN 0 0 0 0.001168 0 6 26 ARID1A 8289 broad.mit.edu 37 1 27099309 27099309 + Frame_Shift_Del DEL C C - rs138311127 TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:27099309delC uc001bmv.1 + 14 3919 c.3546delC c.(3544-3546)AGCfs p.S1182fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.S1181fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S1182fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S799fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.S28fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1182 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGAGCAGGAGCAATTCAGTTG 0.478 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 29 43 --- --- PEAR1 375033 broad.mit.edu 37 1 156884482 156884483 + Frame_Shift_Ins INS - - C TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr1:156884482_156884483insC uc001fqj.1 + 23 3122_3123 c.3006_3007insC c.(3004-3009)CTACCCfs p.L1002fs PEAR1_uc001fqk.1_Frame_Shift_Ins_p.L627fs NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 1002_1003 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCCGGGCCTACCCCCCGGCCA 0.609 NaN NaN NaN NaN NaN NaN 17 139 --- --- B3GNT9 84752 broad.mit.edu 37 16 67184256 67184256 + Frame_Shift_Del DEL C C - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr16:67184256delC uc002erf.2 - 2 454 c.133delG c.(133-135)GCGfs p.A45fs uc002erg.1_3'UTR NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 45 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 CTCGGTGCCGCCCTCCCTCGC 0.766 NaN NaN NaN NaN NaN NaN 2 4 --- --- LRFN3 79414 broad.mit.edu 37 19 36431511 36431517 + Frame_Shift_Del DEL CCAGCTG CCAGCTG - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr19:36431511_36431517delCCAGCTG uc002oco.2 + 2 1636_1642 c.1184_1190delCCAGCTG c.(1183-1191)ACCAGCTGTfs p.T395fs NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 395_397 Extracellular (Potential). cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCAACAGCACCAGCTGTGACCCCCCG 0.671 NaN NaN NaN NaN NaN NaN 36 68 --- --- FIGN 55137 broad.mit.edu 37 2 164467360 164467361 + Frame_Shift_Ins INS - - A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr2:164467360_164467361insA uc002uck.1 - 3 1292_1293 c.981_982insT c.(979-984)GGAGATfs p.G327fs NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 327_328 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 GAGTCCATATCTCCTTGCCCTG 0.465 NaN NaN NaN NaN NaN NaN 80 89 --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr20:56099187delT uc010gix.1 - 1 737 c.75delA c.(73-75)AAAfs p.K25fs CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 NaN NaN NaN NaN NaN NaN 7 723 --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:46306948delT uc003cpg.1 + 4 842 c.299delT c.(298-300)GTTfs p.V100fs CCR3_uc003cpi.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpj.1_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.1_Frame_Shift_Del_p.V121fs|CCR3_uc010hjb.1_Frame_Shift_Del_p.V118fs|CCR3_uc003cpl.1_Frame_Shift_Del_p.V133fs NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 100 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 NaN NaN NaN NaN NaN NaN 9 2458 --- --- SLMAP 7871 broad.mit.edu 37 3 57893702 57893702 + Frame_Shift_Del DEL A A - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:57893702delA uc003dje.1 + 16 1747 c.1542delA c.(1540-1542)AGAfs p.R514fs SLMAP_uc003djd.1_Frame_Shift_Del_p.R497fs|SLMAP_uc003djf.1_Frame_Shift_Del_p.R476fs|SLMAP_uc003djg.1_Frame_Shift_Del_p.R108fs|SLMAP_uc011bez.1_Intron|SLMAP_uc011bfa.1_Frame_Shift_Del_p.R48fs|SLMAP_uc003djh.2_Intron|SLMAP_uc003dji.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfb.1_Frame_Shift_Del_p.R48fs|SLMAP_uc011bfc.1_Intron NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 514 Cytoplasmic (Potential).|Potential. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) AGCTAGCTAGAACAAGTAAAC 0.343 NaN NaN NaN NaN NaN NaN 9 72 --- --- PDZRN3 23024 broad.mit.edu 37 3 73433413 73433414 + Frame_Shift_Ins INS - - G TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:73433413_73433414insG uc003dpl.1 - 10 2399_2400 c.2303_2304insC c.(2302-2304)CCGfs p.P768fs PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.P425fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.P466fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.P485fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.P488fs NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 768 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCAGGGTGAGCGGGGTGCTGCG 0.649 NaN NaN NaN NaN NaN NaN 12 52 --- --- GOLGB1 2804 broad.mit.edu 37 3 121409850 121409851 + Frame_Shift_Ins INS - - TC TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr3:121409850_121409851insTC uc003eei.3 - 14 8471_8472 c.8345_8346insGA c.(8344-8346)GATfs p.D2782fs GOLGB1_uc010hrc.2_Frame_Shift_Ins_p.D2787fs|GOLGB1_uc003eej.3_Frame_Shift_Ins_p.D2748fs NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2782 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AAAGAAGAGCATCTCTCTCTCT 0.426 NaN NaN NaN NaN NaN NaN 33 125 --- --- VPS13B 157680 broad.mit.edu 37 8 100847965 100847973 + Splice_Site DEL AGGTCAGTG AGGTCAGTG - TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 134b0a5e-a0ba-444d-bc4b-bdceb02d5b04 f6f41c41-66ba-4975-89ba-044ef679332d g.chr8:100847965_100847973delAGGTCAGTG uc003yiv.2 + 54 10128 c.10017_splice c.e54+1 p.Q3339_splice VPS13B_uc003yiw.2_Splice_Site_p.Q3314_splice NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 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) CAGGGAACACAGGTCAGTGAGCCATGTGT 0.402 NaN NaN NaN NaN NaN NaN 26 112 --- ---