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 ARID1A 8289 broad.mit.edu 37 1 27099124 27099124 + Splice_Site SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:27099124G>A uc001bmv.1 + 13 3912 c.3539_splice c.e13+1 p.S1180_splice ARID1A_uc001bmt.1_Splice_Site_p.R1180_splice|ARID1A_uc001bmu.1_Splice_Site_p.S1180_splice|ARID1A_uc001bmw.1_Splice_Site_p.S797_splice|ARID1A_uc001bmx.1_Splice_Site_p.R27_splice|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 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) CAGGCATGAGGTAAGGCCAAG 0.572000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC C1orf87 127795 broad.mit.edu 37 1 60499178 60499178 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:60499178G>T uc001czs.1 - 7 1091 c.999C>A c.(997-999)CGC>CGA p.R333R NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 333 calcium ion binding ovary(1)|breast(1) 2 CAGAGAACGAGCGATCTTCTT 0.428000 LRRC39 127495 broad.mit.edu 37 1 100614640 100614640 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:100614640G>A uc001dsw.1 - 10 1165 c.966C>T c.(964-966)AAC>AAT p.N322N CCDC76_uc001dsv.2_3'UTR|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR|LRRC39_uc001dsx.1_Silent_p.N322N|LRRC39_uc001dsy.1_3'UTR|LRRC39_uc001dsz.1_Silent_p.N322N NM_144620 NP_653221 Q96DD0 LRC39_HUMAN leucine rich repeat containing 39 322 ovary(2)|skin(1) 3 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) TAGTTGAACCGTTGACTTGGT 0.303000 NTNG1 22854 broad.mit.edu 37 1 107867370 107867370 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:107867370G>A uc001dvh.3 + 3 1431 c.713G>A c.(712-714)CGC>CAC p.R238H NTNG1_uc001dvf.3_Missense_Mutation_p.R238H|NTNG1_uc010out.1_Missense_Mutation_p.R238H|NTNG1_uc001dvc.3_Missense_Mutation_p.R238H|NTNG1_uc001dvd.1_Missense_Mutation_p.R238H NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 238 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCTCGCCTACGCAATATGGCT 0.433000 SPAG17 200162 broad.mit.edu 37 1 118624180 118624180 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:118624180C>T uc001ehk.2 - 14 1916 c.1848G>A c.(1846-1848)GGG>GGA p.G616G NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 616 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTTCAGTTTCCCTTTTTCAT 0.438000 BCL9 607 broad.mit.edu 37 1 147095750 147095750 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:147095750C>G uc001epq.2 + 10 4011 c.3271C>G c.(3271-3273)CAG>GAG p.Q1091E BCL9_uc010ozr.1_Missense_Mutation_p.Q1005E NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1091 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TCACTCCAATCAGATGCCCTC 0.537000 T IGH@|IGL@ B-ALL OR6Y1 391112 broad.mit.edu 37 1 158517100 158517100 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:158517100G>A uc010pil.1 - 1 796 c.796C>T c.(796-798)CGT>TGT p.R266C NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGTTTGGGACGGGCATAGGTG 0.483000 CACNA1E 777 broad.mit.edu 37 1 181706750 181706750 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:181706750C>T uc001gow.2 + 23 3677 c.3512C>T c.(3511-3513)GCG>GTG p.A1171V CACNA1E_uc009wxs.2_Missense_Mutation_p.A1059V|CACNA1E_uc001gox.1_Missense_Mutation_p.A397V|CACNA1E_uc009wxt.2_Missense_Mutation_p.A397V NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1171 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ATCGCCCTGGCGGCAGAGGAC 0.622000 IVNS1ABP 10625 broad.mit.edu 37 1 185270181 185270181 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:185270181T>C uc001grl.2 - 10 1666 c.1043A>G c.(1042-1044)GAA>GGA p.E348G IVNS1ABP_uc001gri.2_Missense_Mutation_p.E8G|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E8G|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E130G|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E8G NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 348 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 CATGGGCTTTTCGATTAGCTC 0.438000 SIPA1L2 57568 broad.mit.edu 37 1 232615460 232615460 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:232615460C>T uc001hvg.2 - 5 2156 c.1998G>A c.(1996-1998)ACG>ACA p.T666T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 666 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGAGAGAGTGCGTGCCCGTGG 0.433000 OR2G6 391211 broad.mit.edu 37 1 248685576 248685576 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr1:248685576C>T uc001ien.1 + 1 629 c.629C>T c.(628-630)CCG>CTG p.P210L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 210 Helical; Name=5; (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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAATTGTCCCGGTGTTACTC 0.478000 ITGA8 8516 broad.mit.edu 37 10 15628600 15628600 + Silent SNP C C T rs145199076 by1000genomes TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:15628600C>T uc001ioc.1 - 23 2355 c.2355G>A c.(2353-2355)GCG>GCA p.A785A ITGA8_uc010qcb.1_Silent_p.A770A NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 785 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TTTCCACCTGCGCTACAGCAG 0.363000 PTCHD3 374308 broad.mit.edu 37 10 27702628 27702628 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:27702628G>A uc001itu.2 - 1 670 c.552C>T c.(550-552)TTC>TTT p.F184F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 184 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GGCCCTGCACGAAGCGCCGCT 0.627000 ZNF438 220929 broad.mit.edu 37 10 31139181 31139181 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:31139181C>T uc010qdz.1 - 7 588 c.153G>A c.(151-153)CTG>CTA p.L51L ZNF438_uc001ivn.2_Silent_p.L2L|ZNF438_uc010qdy.1_Silent_p.L41L|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Silent_p.L51L|ZNF438_uc001ivp.3_Silent_p.L41L|ZNF438_uc010qea.1_Silent_p.L51L|ZNF438_uc010qeb.1_Silent_p.L51L|ZNF438_uc010qec.1_5'UTR NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) AATGACATGGCAGCATTCTGG 0.488000 ARHGAP12 94134 broad.mit.edu 37 10 32150542 32150542 + Silent SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:32150542A>G uc001ivz.1 - 4 999 c.729T>C c.(727-729)TAT>TAC p.Y243Y ARHGAP12_uc001ivy.1_Silent_p.Y241Y|ARHGAP12_uc009xls.2_Silent_p.Y241Y|ARHGAP12_uc001iwb.1_Silent_p.Y241Y|ARHGAP12_uc001iwc.1_Silent_p.Y241Y|ARHGAP12_uc009xlq.1_Silent_p.Y241Y|ARHGAP12_uc001iwd.1_Silent_p.Y241Y|ARHGAP12_uc009xlr.1_Silent_p.Y241Y NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 243 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) GAAGGTTAGCATAGACAGGAG 0.398000 BMS1 9790 broad.mit.edu 37 10 43287160 43287160 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:43287160T>G uc001jaj.2 + 6 1080 c.722T>G c.(721-723)GTT>GGT p.V241G NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 241 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TTTATTACAGTTATGAAGTTT 0.398000 RET 5979 broad.mit.edu 37 10 43596039 43596039 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:43596039G>A uc001jal.2 + 2 396 c.206G>A c.(205-207)GGC>GAC p.G69D RET_uc001jak.1_Missense_Mutation_p.G69D NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 69 Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) TTCCGCCTGGGCCAGCATCTC 0.637000 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma SIRT1 23411 broad.mit.edu 37 10 69672419 69672419 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:69672419C>T uc001jnd.2 + 8 1599 c.1546C>T c.(1546-1548)CGA>TGA p.R516* SIRT1_uc010qis.1_Nonsense_Mutation_p.R221*|SIRT1_uc009xpp.2_Nonsense_Mutation_p.R324*|SIRT1_uc001jne.2_Nonsense_Mutation_p.R213* NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 516 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 AAAACCTCCACGAACACAAAA 0.388000 IFIT1B 439996 broad.mit.edu 37 10 91143907 91143907 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:91143907G>A uc001kgh.2 + 2 917 c.837G>A c.(835-837)GAG>GAA p.E279E LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN interferon-induced protein with 279 TPR 5. binding 0 TGGCCTTGGAGACAACACCCA 0.458000 MGEA5 10724 broad.mit.edu 37 10 103550838 103550838 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:103550838C>T uc001ktv.2 - 14 2712 c.2269G>A c.(2269-2271)GGA>AGA p.G757R MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.G704R|MGEA5_uc009xws.2_Missense_Mutation_p.G690R NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 757 Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) AGCAGCCCTCCTACTAACCTG 0.448000 SORCS1 114815 broad.mit.edu 37 10 108923946 108923946 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:108923946C>T uc001kym.2 - 1 347 c.339G>A c.(337-339)GCG>GCA p.A113A SORCS1_uc001kyl.2_Silent_p.A113A|SORCS1_uc009xxs.2_Silent_p.A113A|SORCS1_uc001kyn.1_Silent_p.A113A|SORCS1_uc001kyo.2_Silent_p.A113A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 113 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCTCCTGATCCGCTCCGCTCC 0.721000 DCLRE1A 9937 broad.mit.edu 37 10 115609996 115609996 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:115609996C>T uc001law.2 - 2 1786 c.868G>A c.(868-870)GAA>AAA p.E290K NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 290 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) AAGTCATTTTCTGGCAATGGC 0.378000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function PNLIP 5406 broad.mit.edu 37 10 118320019 118320019 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:118320019G>A uc001lcm.2 + 11 1195 c.1152G>A c.(1150-1152)AAG>AAA p.K384K NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 384 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GAAACTCTAAGCAGTATGAAA 0.264000 MGMT 4255 broad.mit.edu 37 10 131334524 131334524 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:131334524A>G uc001lkh.2 + 2 127 c.101A>G c.(100-102)AAG>AGG p.K34R NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 3 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) AAAATGGACAAGGATTGTGAA 0.433000 Direct_reversal_of_damage C10orf93 255352 broad.mit.edu 37 10 134742984 134742984 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr10:134742984C>T uc001llt.1 - 9 1267 c.1191G>A c.(1189-1191)ACG>ACA p.T397T NM_173572 NP_775843 Q5SR76 CJ093_HUMAN hypothetical protein LOC255352 Error:Variant_position_missing_in_Q5SR76_after_alignment binding pancreas(1) 1 all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175) Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05) gctgtggacccgtggccacaa 0.060000 MICAL2 9645 broad.mit.edu 37 11 12229626 12229626 + Missense_Mutation SNP A A T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:12229626A>T uc001mjz.2 + 5 817 c.529A>T c.(529-531)ATC>TTC p.I177F MICAL2_uc010rch.1_Missense_Mutation_p.I177F|MICAL2_uc001mjy.2_Missense_Mutation_p.I177F|MICAL2_uc001mka.2_Missense_Mutation_p.I177F|MICAL2_uc010rci.1_Missense_Mutation_p.I177F|MICAL2_uc001mkb.2_Missense_Mutation_p.I177F|MICAL2_uc001mkc.2_Missense_Mutation_p.I177F|MICAL2_uc001mkd.2_Missense_Mutation_p.I6F NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 177 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GGGAGTTGAAATCCATGTGAA 0.443000 KCNA4 3739 broad.mit.edu 37 11 30032457 30032457 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:30032457G>A uc001msk.2 - 2 2921 c.1769C>T c.(1768-1770)CCC>CTC p.P590L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 590 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAAATTAGAGGGGAGGTATGG 0.433000 OR4C46 119749 broad.mit.edu 37 11 51515370 51515370 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:51515370T>G uc010ric.1 + 1 89 c.89T>G c.(88-90)TTT>TGT p.F30C NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTTGTGTTTTTTGTCATCTAT 0.433000 OR4C11 219429 broad.mit.edu 37 11 55371644 55371644 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:55371644G>A uc010rii.1 - 1 206 c.206C>T c.(205-207)TCT>TTT p.S69F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAAAAGCAAGAATCTGCAAA 0.408000 EML3 256364 broad.mit.edu 37 11 62376557 62376557 + Missense_Mutation SNP C C T rs35971607 byFrequency TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:62376557C>T uc001ntu.1 - 7 1114 c.806G>A c.(805-807)CGC>CAC p.R269H EML3_uc001ntr.1_Missense_Mutation_p.R241H|EML3_uc001nts.1_Missense_Mutation_p.R241H|EML3_uc001ntt.1_Missense_Mutation_p.R153H|EML3_uc010rly.1_Missense_Mutation_p.R269H|EML3_uc009yny.1_Missense_Mutation_p.R52H NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 269 cytoplasm|microtubule protein binding ovary(1) 1 CTCCCCAGAGCGCAACACAAA 0.597000 DSCAML1 57453 broad.mit.edu 37 11 117299086 117299086 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:117299086C>T uc001prh.1 - 33 6302 c.6300G>A c.(6298-6300)AAG>AAA p.K2100K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2040 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGGCCCCCTGCTTCTGAGACC 0.692000 CHEK1 1111 broad.mit.edu 37 11 125514068 125514068 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr11:125514068G>A uc009zbo.2 + 10 1898 c.1006G>A c.(1006-1008)GAT>AAT p.D336N CHEK1_uc010sbh.1_Missense_Mutation_p.D352N|CHEK1_uc010sbi.1_Missense_Mutation_p.D336N|CHEK1_uc001qcf.3_Missense_Mutation_p.D336N|CHEK1_uc009zbp.2_Missense_Mutation_p.D336N|CHEK1_uc001qcg.3_Missense_Mutation_p.D336N|CHEK1_uc009zbq.2_Missense_Mutation_p.D336N|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'UTR NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 336 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) CTCATACATTGATAAATTGGT 0.468000 Other_conserved_DNA_damage_response_genes A2M 2 broad.mit.edu 37 12 9254201 9254201 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:9254201G>T uc001qvk.1 - 12 1449 c.1336C>A c.(1336-1338)CAC>AAC p.H446N A2M_uc009zgk.1_Missense_Mutation_p.H296N NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 446 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TAAGCAGTGTGATGTGCCTCT 0.443000 KLRC1 3821 broad.mit.edu 37 12 10603730 10603730 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:10603730G>A uc001qyl.2 - 2 190 c.26C>T c.(25-27)TCA>TTA p.S9L KLRC1_uc009zhm.1_Missense_Mutation_p.S9L|KLRC1_uc001qym.2_Missense_Mutation_p.S9L|KLRC1_uc001qyn.2_Missense_Mutation_p.S9L|KLRC1_uc001qyo.2_Missense_Mutation_p.S9L NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 9 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 ATTCAGGTCTGAGTAGATTAC 0.388000 SLC4A8 9498 broad.mit.edu 37 12 51882580 51882580 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:51882580T>G uc001rys.1 + 18 2562 c.2384T>G c.(2383-2385)ATC>AGC p.I795S SLC4A8_uc001rym.2_Missense_Mutation_p.I742S|SLC4A8_uc001ryn.2_Missense_Mutation_p.I742S|SLC4A8_uc001ryo.2_Missense_Mutation_p.I742S|SLC4A8_uc010snj.1_Missense_Mutation_p.I822S|SLC4A8_uc001ryr.2_Missense_Mutation_p.I795S NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 795 Helical; (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) CTCTGTACTATCTTGATATTC 0.458000 SP1 6667 broad.mit.edu 37 12 53776035 53776035 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:53776035C>T uc001scw.2 + 3 401 c.304C>T c.(304-306)CAG>TAG p.Q102* SP1_uc010sog.1_Nonsense_Mutation_p.Q95* NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 102 Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) ACAACTTTCACAGGGTGCCAA 0.552000 CALCOCO1 57658 broad.mit.edu 37 12 54109688 54109688 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:54109688G>A uc001sef.2 - 9 1293 c.1149C>T c.(1147-1149)AGC>AGT p.S383S CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Silent_p.S298S|CALCOCO1_uc010son.1_Silent_p.S260S|CALCOCO1_uc001seh.2_Silent_p.S383S|CALCOCO1_uc009znd.2_Silent_p.S383S|CALCOCO1_uc001seg.2_Silent_p.S208S|CALCOCO1_uc010soo.1_Silent_p.S376S NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 383 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CTTCCAGGCGGCTGCGGTGTA 0.602000 NEUROD4 58158 broad.mit.edu 37 12 55420273 55420273 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:55420273C>T uc001sgp.3 + 2 428 c.50C>T c.(49-51)ACA>ATA p.T17I NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 17 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 CTAGTCAACACACCATCCTGG 0.443000 MMP19 4327 broad.mit.edu 37 12 56234970 56234970 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:56234970G>C uc001sib.2 - 3 345 c.224C>G c.(223-225)GCC>GGC p.A75G MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.A75G NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 75 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 GGCCCTTGTGGCATCATCCAG 0.522000 USP44 84101 broad.mit.edu 37 12 95926835 95926835 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:95926835C>A uc001teg.2 - 2 1342 c.1198G>T c.(1198-1200)GTC>TTC p.V400F USP44_uc001teh.2_Missense_Mutation_p.V400F|USP44_uc009zte.2_Missense_Mutation_p.V397F NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 400 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 AATGGTGAGACCAACGCCCAC 0.443000 MMP17 4326 broad.mit.edu 37 12 132329865 132329865 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr12:132329865C>T uc001ujc.1 + 8 1174 c.1075C>T c.(1075-1077)CGG>TGG p.R359W MMP17_uc001ujd.1_Missense_Mutation_p.R275W NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 359 Hemopexin-like 1. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GCGGCTGACGCGGGACCGGCA 0.711000 MIPEP 4285 broad.mit.edu 37 13 24380153 24380153 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr13:24380153G>A uc001uox.3 - 16 1884 c.1784C>T c.(1783-1785)TCA>TTA p.S595L NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 595 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) GTCTGTGGTTGAATTCCTCAG 0.403000 LECT1 11061 broad.mit.edu 37 13 53298181 53298181 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr13:53298181C>T uc001vhf.2 - 4 530 c.419G>A c.(418-420)CGT>CAT p.R140H LECT1_uc001vhg.2_Missense_Mutation_p.R140H|LECT1_uc001vhh.2_Intron NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 140 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CTCAGGAATACGAGCCTTCAC 0.473000 MYCBP2 23077 broad.mit.edu 37 13 77754282 77754282 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr13:77754282C>T uc001vkf.2 - 35 5090 c.4999G>A c.(4999-5001)GCG>ACG p.A1667T MYCBP2_uc010aev.2_Missense_Mutation_p.A1071T NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGGGCTGACGCTGTCAGTTCA 0.428000 NKX2-1 7080 broad.mit.edu 37 14 36987207 36987207 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr14:36987207G>A uc001wtt.2 - 2 733 c.392C>T c.(391-393)CCG>CTG p.P131L SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.P161L|NKX2-1_uc001wtv.2_Missense_Mutation_p.P131L|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 131 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GCCGCTCGCCGGGCCCATGAA 0.716000 A NSCLC KCNH5 27133 broad.mit.edu 37 14 63417125 63417125 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr14:63417125G>A uc001xfx.2 - 7 1146 c.1095C>T c.(1093-1095)TGC>TGT p.C365C KCNH5_uc001xfy.2_Silent_p.C365C|KCNH5_uc001xfz.1_Silent_p.C307C|KCNH5_uc001xga.2_Silent_p.C307C NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 365 Helical; Name=Segment S5; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TATACCATATGCAGGCCAGCC 0.522000 C14orf156 81892 broad.mit.edu 37 14 78174460 78174460 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr14:78174460G>T uc001xue.3 + 1 36 c.6G>T c.(4-6)GCG>GCT p.A2A ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank NM_031210 NP_112487 Q9GZT3 SLIRP_HUMAN SRA stem-loop-interacting RNA-binding protein 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus nucleotide binding|RNA binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0276) TGAAGATGGCGGCCTCAGCAG 0.562000 INF2 64423 broad.mit.edu 37 14 105174317 105174317 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr14:105174317G>A uc001ypb.2 + 8 1856 c.1713G>A c.(1711-1713)AAG>AAA p.K571K INF2_uc010tyi.1_Silent_p.K571K|INF2_uc001ypc.2_Silent_p.K571K|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 571 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) ACTGGCAGAAGCTGCCATCCA 0.657000 DISP2 85455 broad.mit.edu 37 15 40656717 40656717 + Missense_Mutation SNP G G T rs146996300 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:40656717G>T uc001zlk.1 + 4 664 c.575G>T c.(574-576)CGG>CTG p.R192L NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 192 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TTGGGGGCCCGGCTGCCCGAC 0.637000 DISP2 85455 broad.mit.edu 37 15 40661395 40661395 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:40661395C>A uc001zlk.1 + 8 3171 c.3082C>A c.(3082-3084)CTC>ATC p.L1028I NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 1028 Helical; (Potential). smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CTCAGTGGGCCTCTCAGTAGA 0.602000 PLA2G4F 255189 broad.mit.edu 37 15 42438358 42438358 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:42438358C>T uc001zoz.2 - 14 1564 c.1501G>A c.(1501-1503)GTC>ATC p.V501I PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.V133I|PLA2G4F_uc010bcr.2_Missense_Mutation_p.V252I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.V252I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.V288I NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 501 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) TTGGTGCGGACGTTGACACTG 0.592000 CAPN3 825 broad.mit.edu 37 15 42652295 42652295 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:42652295G>A uc001zpn.1 + 1 598 c.292G>A c.(292-294)GTC>ATC p.V98I CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.V98I|CAPN3_uc001zpp.1_Missense_Mutation_p.V98I NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 98 Calpain catalytic. Missing (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CATCCAGTTCGTCTGGAAGAG 0.532000 UNC13C 440279 broad.mit.edu 37 15 54306827 54306827 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:54306827G>T uc002ack.2 + 1 1727 c.1727G>T c.(1726-1728)AGC>ATC p.S576I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 576 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) ACTAATGGAAGCTCTCTCCTG 0.433000 BNC1 646 broad.mit.edu 37 15 83932806 83932806 + Silent SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:83932806T>C uc002bjt.1 - 4 1285 c.1197A>G c.(1195-1197)CTA>CTG p.L399L BNC1_uc010uos.1_Silent_p.L387L NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 399 C2H2-type 2. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCCGGCTCCTTAGGGAGCTGA 0.517000 NTRK3 4916 broad.mit.edu 37 15 88420326 88420326 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr15:88420326C>T uc002bme.1 - 19 2522 c.2360G>A c.(2359-2361)CGT>CAT p.R787H NTRK3_uc002bmh.2_Missense_Mutation_p.R765H|NTRK3_uc002bmf.1_Missense_Mutation_p.R773H NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 787 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CTCCAAAACACGACCTTGGGT 0.537000 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) DCI 1632 broad.mit.edu 37 16 2290000 2290000 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr16:2290000G>A uc002cpr.2 - 7 925 c.889C>T c.(889-891)CTC>TTC p.L297F DCI_uc002cps.2_Missense_Mutation_p.L280F NM_001919 NP_001910 P42126 ECI1_HUMAN dodecenoyl-Coenzyme A delta isomerase precursor 297 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity 0 TCTTCTTTGAGCCTCTCTAAG 0.537000 OR1F1 4992 broad.mit.edu 37 16 3254578 3254578 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr16:3254578A>G uc010uwu.1 + 1 332 c.332A>G c.(331-333)GAC>GGC p.D111G NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTGGACATGGACAATTTCCTC 0.507000 PLCG2 5336 broad.mit.edu 37 16 81925130 81925130 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr16:81925130C>T uc002fgt.2 + 11 1073 c.921C>T c.(919-921)GAC>GAT p.D307D PLCG2_uc010chg.1_Silent_p.D307D NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 307 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 AGAAGTATGACGCGGTGGACA 0.498000 LRRC50 123872 broad.mit.edu 37 16 84203642 84203642 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr16:84203642C>A uc002fhl.3 + 8 1389 c.1208C>A c.(1207-1209)GCT>GAT p.A403D LRRC50_uc010vnw.1_Missense_Mutation_p.A167D NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 403 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CCTGTGGAGGCTAAAAGAGAG 0.557000 Kartagener_syndrome SGSM2 9905 broad.mit.edu 37 17 2279113 2279113 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:2279113G>C uc002fun.3 + 17 2468 c.2293G>C c.(2293-2295)GCC>CCC p.A765P SGSM2_uc002fum.3_Missense_Mutation_p.A810P|SGSM2_uc010vqw.1_Missense_Mutation_p.A765P|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 765 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GAAGCCTCAGGCCGGAGAACT 0.682000 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SPAG5 10615 broad.mit.edu 37 17 26919760 26919760 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:26919760C>T uc002hbq.2 - 3 594 c.502G>A c.(502-504)GAT>AAT p.D168N SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 168 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) CTCACCAGATCGTCTGTTCTC 0.473000 SCN4A 6329 broad.mit.edu 37 17 62019209 62019209 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:62019209G>A uc002jds.1 - 24 4510 c.4433C>T c.(4432-4434)TCG>TTG p.S1478L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1478 IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GGCAGGCAGCGACATCATGAG 0.607000 TTYH2 94015 broad.mit.edu 37 17 72233438 72233438 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:72233438C>T uc002jkc.2 + 4 451 c.420C>T c.(418-420)TCC>TCT p.S140S TTYH2_uc010wqw.1_Silent_p.S119S NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 140 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 CCTAGGTTTCCGGAACTACCC 0.557000 MYOM1 8736 broad.mit.edu 37 18 3188832 3188832 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr18:3188832C>T uc002klp.2 - 4 1019 c.685G>A c.(685-687)GCT>ACT p.A229T MYOM1_uc002klq.2_Missense_Mutation_p.A229T NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 229 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TGTTGAAGAGCGGATGTGGCC 0.512000 SETBP1 26040 broad.mit.edu 37 18 42531860 42531860 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr18:42531860C>T uc010dni.2 + 4 2851 c.2555C>T c.(2554-2556)ACG>ATG p.T852M NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 852 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGGAAATCACGCTGTCCCCT 0.562000 Schinzel-Giedion_syndrome PLIN4 729359 broad.mit.edu 37 19 4510934 4510934 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:4510934T>G uc002mar.1 - 3 2996 c.2996A>C c.(2995-2997)CAG>CCG p.Q999P PLIN4_uc010dub.1_Missense_Mutation_p.Q23P NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 999 lipid particle|plasma membrane 0 CAGGCCCCCCTGGACGGCCCC 0.642000 SMARCA4 6597 broad.mit.edu 37 19 11134252 11134252 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:11134252G>A uc002mqf.3 + 20 3202 c.2918G>A c.(2917-2919)CGG>CAG p.R973Q SMARCA4_uc010dxp.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.R973Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R973Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.R973Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.R973Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.R193Q|SMARCA4_uc002mqh.3_Missense_Mutation_p.R96Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.R176Q NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 973 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) AAAGTGCTGCGGCCCTTCTTG 0.562000 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome EMR2 30817 broad.mit.edu 37 19 14862365 14862365 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:14862365T>C uc002mzp.1 - 16 2363 c.1907A>G c.(1906-1908)TAC>TGC p.Y636C EMR2_uc010dzs.1_Missense_Mutation_p.Y95C|EMR2_uc010xnw.1_Missense_Mutation_p.Y578C|EMR2_uc002mzo.1_Missense_Mutation_p.Y625C|EMR2_uc002mzq.1_Missense_Mutation_p.Y576C|EMR2_uc002mzr.1_Missense_Mutation_p.Y587C|EMR2_uc002mzs.1_Missense_Mutation_p.Y494C|EMR2_uc002mzt.1_Missense_Mutation_p.Y532C|EMR2_uc002mzu.1_Missense_Mutation_p.Y543C|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 636 Cytoplasmic (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GATGCTTGAGTAGTTGACCAC 0.562000 IL12RB1 3594 broad.mit.edu 37 19 18179266 18179266 + Silent SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:18179266G>C uc002nhw.1 - 11 1324 c.1260C>G c.(1258-1260)GCC>GCG p.A420A IL12RB1_uc010xqb.1_Silent_p.A420A|IL12RB1_uc002nhx.1_Silent_p.A460A NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 420 Extracellular (Potential).|Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 GGTGCGCAGAGGCAAAGATGG 0.522000 ZNF492 57615 broad.mit.edu 37 19 22847938 22847938 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:22847938C>T uc002nqw.3 + 4 1711 c.1467C>T c.(1465-1467)TCC>TCT p.S489S NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 489 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TTAACAACTCCTCTATTCTTA 0.368000 ZNF569 148266 broad.mit.edu 37 19 37903672 37903672 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:37903672C>T uc002ogi.2 - 6 2446 c.1888G>A c.(1888-1890)GGT>AGT p.G630S ZNF569_uc002ogh.2_Missense_Mutation_p.G471S|ZNF569_uc002ogj.2_Missense_Mutation_p.G654S NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTTTCTCACCTGTATGTCCT 0.408000 NUMBL 9253 broad.mit.edu 37 19 41188680 41188680 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:41188680G>A uc002oon.2 - 5 520 c.352C>T c.(352-354)CTG>TTG p.L118L NUMBL_uc010xvq.1_Silent_p.L77L|NUMBL_uc002ooo.2_Silent_p.L118L|NUMBL_uc010xvr.1_Silent_p.L77L NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 118 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding lung(3)|ovary(1)|breast(1) 5 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) GACACCCACAGGACAGACTTC 0.647000 IRF2BP1 26145 broad.mit.edu 37 19 46388028 46388028 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:46388028G>T uc002pds.1 - 1 1349 c.1005C>A c.(1003-1005)ACC>ACA p.T335T NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GGACGCCGTCGGTAAGCAGCT 0.692000 LILRA3 11026 broad.mit.edu 37 19 54803070 54803070 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:54803070G>A uc002qfd.2 - 4 672 c.607C>T c.(607-609)CGC>TGC p.R203C LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 203 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGGGAGCGCGCGAGTCATAA 0.612000 GREB1 9687 broad.mit.edu 37 2 11750887 11750887 + Missense_Mutation SNP G G A rs139446036 by1000genomes TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:11750887G>A uc002rbk.1 + 18 3040 c.2740G>A c.(2740-2742)GTA>ATA p.V914I GREB1_uc002rbo.1_Missense_Mutation_p.V548I|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 914 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCTGATGGCCGTAAGCGGCCT 0.632000 OTOF 9381 broad.mit.edu 37 2 26684574 26684574 + Silent SNP G G A rs145894536 byFrequency TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:26684574G>A uc002rhk.2 - 43 5650 c.5523C>T c.(5521-5523)GAC>GAT p.D1841D OTOF_uc010yla.1_Silent_p.D571D|OTOF_uc002rhh.2_Silent_p.D1074D|OTOF_uc002rhi.2_Silent_p.D1151D|OTOF_uc002rhj.2_Silent_p.D1074D NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1841 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGAAGTCGTCAGCGGAGA 0.632000 OTOF 9381 broad.mit.edu 37 2 26702140 26702140 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:26702140C>T uc002rhk.2 - 18 2333 c.2206G>A c.(2206-2208)GAC>AAC p.D736N OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 736 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCAGCTTGTCGGCAATGTGG 0.642000 OTOF 9381 broad.mit.edu 37 2 26712138 26712138 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:26712138C>T uc002rhk.2 - 11 1113 c.986G>A c.(985-987)CGC>CAC p.R329H NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 329 Cytoplasmic (Potential).|C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGCCACTGCGCAGCAGGTT 0.617000 XDH 7498 broad.mit.edu 37 2 31595105 31595105 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:31595105G>A uc002rnv.1 - 17 1924 c.1845C>T c.(1843-1845)CAC>CAT p.H615H NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 615 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGATCTTGGCGTGGGCCCGGG 0.617000 MSH2 4436 broad.mit.edu 37 2 47639634 47639634 + Missense_Mutation SNP C C T rs138857091 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:47639634C>T uc002rvy.1 + 4 795 c.727C>T c.(727-729)CGG>TGG p.R243W MSH2_uc010yoh.1_Missense_Mutation_p.R177W|MSH2_uc002rvz.2_Missense_Mutation_p.R243W|MSH2_uc010fbg.2_Missense_Mutation_p.R103W|MSH2_uc010fbf.1_Missense_Mutation_p.R150W NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 243 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGACCTCAACCGGTTGTTGAA 0.338000 D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome LRRTM1 347730 broad.mit.edu 37 2 80530432 80530432 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:80530432G>A uc002sok.1 - 2 783 c.513C>T c.(511-513)AAC>AAT p.N171N CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 171 LRR 4.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 ACTGGATGGCGTTGGCCCGCA 0.612000 HNSCC(69;0.2) GPR45 11250 broad.mit.edu 37 2 105859311 105859311 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:105859311C>T uc002tco.1 + 1 1112 c.996C>T c.(994-996)CGC>CGT p.R332R NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 332 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 AAAAATTCCGCGAGGCCTGCA 0.552000 NEB 4703 broad.mit.edu 37 2 152521048 152521048 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:152521048C>T uc010fnx.2 - 44 5609 c.5418G>A c.(5416-5418)AAG>AAA p.K1806K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1806 Nebulin 47. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCTTGCAGCCTTTATTGCAA 0.428000 TTN 7273 broad.mit.edu 37 2 179472320 179472320 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:179472320G>A uc010zfg.1 - 226 45615 c.45391C>T c.(45391-45393)CGC>TGC p.R15131C uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826C|TTN_uc010zfi.1_Missense_Mutation_p.R8759C|TTN_uc010zfj.1_Missense_Mutation_p.R8634C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16058 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R8634C(1)|p.R15131C(1) 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) GGTACAGGGCGACCAGTCACC 0.443000 TTN 7273 broad.mit.edu 37 2 179483531 179483531 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:179483531G>A uc010zfg.1 - 200 39266 c.39042C>T c.(39040-39042)GGC>GGT p.G13014G TTN_uc010zfh.1_Silent_p.G6709G|TTN_uc010zfi.1_Silent_p.G6642G|TTN_uc010zfj.1_Silent_p.G6517G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13941 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) TCAGAGGCTTGCCAACATCAA 0.413000 TTN 7273 broad.mit.edu 37 2 179501304 179501304 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:179501304G>T uc010zfg.1 - 174 33670 c.33446C>A c.(33445-33447)ACA>AAA p.T11149K TTN_uc010zfh.1_Missense_Mutation_p.T4844K|TTN_uc010zfi.1_Missense_Mutation_p.T4777K|TTN_uc010zfj.1_Missense_Mutation_p.T4652K|TTN_uc010fre.1_Missense_Mutation_p.T1010K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12076 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) CATCCAGGTTGTAATTGCAGT 0.413000 TNS1 7145 broad.mit.edu 37 2 218700881 218700881 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:218700881G>A uc002vgt.2 - 18 3084 c.2686C>T c.(2686-2688)CGG>TGG p.R896W TNS1_uc002vgr.2_Missense_Mutation_p.R896W|TNS1_uc002vgs.2_Missense_Mutation_p.R896W|TNS1_uc010zjv.1_Missense_Mutation_p.R896W NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 896 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTGGCCGCCCGCCTCCGCAGA 0.617000 STK36 27148 broad.mit.edu 37 2 219558685 219558685 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:219558685G>A uc002viu.2 + 19 2581 c.2315G>A c.(2314-2316)CGG>CAG p.R772Q STK36_uc002viv.2_Missense_Mutation_p.R772Q|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 772 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTGTCTTTCGGCTCCAAAAC 0.438000 DOCK10 55619 broad.mit.edu 37 2 225669928 225669928 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:225669928G>A uc010fwz.1 - 36 4285 c.4046C>T c.(4045-4047)TCG>TTG p.S1349L DOCK10_uc002vob.2_Missense_Mutation_p.S1343L|DOCK10_uc002voa.2_Missense_Mutation_p.S5L|DOCK10_uc002voc.2_Missense_Mutation_p.S203L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1349 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTACCGTACGAAATCGTTTT 0.363000 COL6A3 1293 broad.mit.edu 37 2 238259791 238259791 + Silent SNP G G A rs116541926 by1000genomes TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr2:238259791G>A uc002vwl.2 - 27 7083 c.6798C>T c.(6796-6798)ACC>ACT p.T2266T COL6A3_uc002vwo.2_Silent_p.T2060T|COL6A3_uc010znj.1_Silent_p.T1659T|COL6A3_uc002vwp.1_Silent_p.T87T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2266 Triple-helical region.|Collagen-like 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCAGTGGACCGGTTCTGCCTC 0.577000 TPX2 22974 broad.mit.edu 37 20 30371652 30371652 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:30371652G>T uc002wwp.1 + 12 2039 c.1341G>T c.(1339-1341)AAG>AAT p.K447N TPX2_uc010gdv.1_Missense_Mutation_p.K483N NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 447 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GAGAATCAAAGAAGAAAACAG 0.453000 SLC32A1 140679 broad.mit.edu 37 20 37356300 37356300 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:37356300C>G uc002xjc.2 + 2 859 c.596C>G c.(595-597)CCA>CGA p.P199R NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 199 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCGCGCTTCCCAACGCTGGGC 0.627000 SEMG1 6406 broad.mit.edu 37 20 43837007 43837007 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:43837007C>T uc002xni.2 + 2 1126 c.1069C>T c.(1069-1071)CGA>TGA p.R357* SEMG1_uc002xnj.2_Nonsense_Mutation_p.R297*|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 357 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) GGAAGAAAGACGACTCCACTA 0.413000 CSTF1 1477 broad.mit.edu 37 20 54972832 54972832 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:54972832G>A uc002xxl.1 + 4 780 c.580G>A c.(580-582)GAT>AAT p.D194N CSTF1_uc002xxm.1_Missense_Mutation_p.D194N|CSTF1_uc002xxn.1_Missense_Mutation_p.D194N|CSTF1_uc002xxo.1_Missense_Mutation_p.D137N NM_001033521 NP_001028693 Q05048 CSTF1_HUMAN cleavage stimulation factor subunit 1 194 WD 2. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(1) 1 Colorectal(105;0.202) TGGTTCAAGGGATTATACTCT 0.393000 CTSZ 1522 broad.mit.edu 37 20 57571768 57571768 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:57571768C>T uc002yai.2 - 5 853 c.727G>A c.(727-729)GTT>ATT p.V243I CTSZ_uc002yaj.3_Missense_Mutation_p.V243I NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 243 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) GCCACAGAAACGACATGGTTT 0.473000 ZNF831 128611 broad.mit.edu 37 20 57767395 57767395 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:57767395G>A uc002yan.2 + 1 1321 c.1321G>A c.(1321-1323)GAC>AAC p.D441N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 441 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGGCAGCATCGACCTGCCCAC 0.677000 CDH4 1002 broad.mit.edu 37 20 60485495 60485495 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:60485495C>T uc002ybn.1 + 9 1220 c.1206C>T c.(1204-1206)CCC>CCT p.P402P CDH4_uc002ybp.1_Silent_p.P328P NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 402 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGGAGGTCCCCGAAAACCGCG 0.428000 PSMA7 5688 broad.mit.edu 37 20 60714221 60714221 + Silent SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:60714221A>G uc002ybx.1 - 4 496 c.381T>C c.(379-381)TTT>TTC p.F127F PSMA7_uc002yby.1_RNA NM_002792 NP_002783 O14818 PSA7_HUMAN proteasome alpha 7 subunit 127 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CAGAGATGCCAAACGGCCTGC 0.512000 C20orf135 140701 broad.mit.edu 37 20 62493709 62493709 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:62493709C>T uc002ygx.1 + 1 1144 c.816C>T c.(814-816)TTC>TTT p.F272F TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 272 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) ACGCCACCTTCGACGACCTTG 0.667000 SMTN 6525 broad.mit.edu 37 22 31495818 31495818 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr22:31495818G>A uc003ajl.1 + 19 2757 c.2539G>A c.(2539-2541)GAC>AAC p.D847N SMTN_uc003ajk.1_Missense_Mutation_p.D847N|SMTN_uc003ajm.1_Missense_Mutation_p.D847N|SMTN_uc011ale.1_Missense_Mutation_p.D932N|SMTN_uc011alf.1_Missense_Mutation_p.D903N|SMTN_uc003ajn.1_Missense_Mutation_p.D870N|SMTN_uc011alg.1_Missense_Mutation_p.D303N|SMTN_uc003ajo.1_Missense_Mutation_p.D370N|SMTN_uc010gwe.1_Missense_Mutation_p.D227N|SMTN_uc003ajp.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 847 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 TGAGGCCTTCGACTATGGGCA 0.572000 SEMA3F 6405 broad.mit.edu 37 3 50224175 50224175 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr3:50224175G>A uc003cyj.2 + 18 2141 c.1943G>A c.(1942-1944)CGA>CAA p.R648Q SEMA3F_uc003cyk.2_Missense_Mutation_p.R617Q NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 648 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GACCGGCGCCGAGAGGTGAGT 0.612000 FLNB 2317 broad.mit.edu 37 3 58064475 58064475 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr3:58064475G>A uc003djj.2 + 3 738 c.573G>A c.(571-573)CCG>CCA p.P191P FLNB_uc010hne.2_Silent_p.P191P|FLNB_uc003djk.2_Silent_p.P191P|FLNB_uc010hnf.2_Silent_p.P191P|FLNB_uc003djl.2_Silent_p.P22P|FLNB_uc003djm.2_Silent_p.P22P NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 191 CH 2.|Actin-binding. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCTGGGACCCGCAGAAGCCTG 0.517000 PLCXD2 257068 broad.mit.edu 37 3 111432935 111432935 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr3:111432935C>T uc003dya.2 + 3 1412 c.826C>T c.(826-828)CGG>TGG p.R276W PLCXD2_uc003dyb.2_Missense_Mutation_p.R276W|PLCXD2_uc003dxz.2_Missense_Mutation_p.R276W NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 276 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 GACCATTGCCCGGGGCTTGGT 0.502000 CHST13 166012 broad.mit.edu 37 3 126261238 126261238 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr3:126261238G>A uc003eja.2 + 3 843 c.843G>A c.(841-843)GCG>GCA p.A281A NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN carbohydrate sulfotransferase 13 281 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.151) TGGGCCTGGCGGGCGCATCCG 0.607000 CLSTN2 64084 broad.mit.edu 37 3 140281655 140281655 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr3:140281655G>A uc003etn.2 + 14 2405 c.2215G>A c.(2215-2217)GTG>ATG p.V739M NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 739 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGGCACAGGTGTGGGCTCCAT 0.572000 HNSCC(16;0.037) ACOX3 8310 broad.mit.edu 37 4 8401309 8401309 + Missense_Mutation SNP C C T rs142830697 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr4:8401309C>T uc010idk.2 - 8 992 c.847G>A c.(847-849)GAG>AAG p.E283K ACOX3_uc003glc.3_Missense_Mutation_p.E283K|ACOX3_uc003gld.3_Missense_Mutation_p.E283K|ACOX3_uc003gle.1_Missense_Mutation_p.E188K NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 283 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 TAGGTGCCCTCGGGGGTGACG 0.607000 DRD5 1816 broad.mit.edu 37 4 9783986 9783986 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr4:9783986G>A uc003gmb.3 + 1 729 c.333G>A c.(331-333)GCG>GCA p.A111A NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 111 Extracellular (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCTTTGGAGCGTTCTGCGACG 0.617000 GRID2 2895 broad.mit.edu 37 4 93225854 93225854 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr4:93225854G>A uc011cdt.1 + 1 305 c.47G>A c.(46-48)CGA>CAA p.R16Q GRID2_uc010ikx.2_Missense_Mutation_p.R16Q|GRID2_uc011cdu.1_Missense_Mutation_p.R16Q NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 16 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGGTGGTCTCGAACCTGGGAC 0.443000 ANK2 287 broad.mit.edu 37 4 114254239 114254239 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr4:114254239C>T uc003ibe.3 + 29 3354 c.3254C>T c.(3253-3255)GCG>GTG p.A1085V ANK2_uc003ibd.3_Missense_Mutation_p.A1076V|ANK2_uc003ibf.3_Missense_Mutation_p.A1085V|ANK2_uc011cgc.1_Missense_Mutation_p.A261V|ANK2_uc003ibg.3_Missense_Mutation_p.A80V|ANK2_uc003ibc.2_Missense_Mutation_p.A1061V|ANK2_uc011cgb.1_Missense_Mutation_p.A1100V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1052 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) CCTCACTTTGCGGCCCTTCGA 0.502000 KIAA1109 84162 broad.mit.edu 37 4 123252601 123252601 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr4:123252601C>T uc003ieh.2 + 65 11415 c.11370C>T c.(11368-11370)GAC>GAT p.D3790D KIAA1109_uc003iem.2_Silent_p.D181D NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3790 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GAAATATTGACTTTGAACTTG 0.408000 IRX1 79192 broad.mit.edu 37 5 3600242 3600242 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:3600242G>A uc003jde.2 + 2 1232 c.1180G>A c.(1180-1182)GTT>ATT p.V394I NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 394 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CTTCCTGGGCGTTGGCGCTCC 0.657000 IL6ST 3572 broad.mit.edu 37 5 55237554 55237554 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:55237554G>A uc003jqq.2 - 17 2368 c.2113C>T c.(2113-2115)CCA>TCA p.P705S uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.P644S|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.P24S|IL6ST_uc011cqk.1_Missense_Mutation_p.P416S|IL6ST_uc003jqr.2_3'UTR NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 705 Cytoplasmic (Potential). interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGATCTTCTGGAAAAGGCTTT 0.358000 O hepatocellular ca VCAN 1462 broad.mit.edu 37 5 82836187 82836187 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:82836187C>A uc003kii.3 + 8 7721 c.7365C>A c.(7363-7365)AGC>AGA p.S2455R VCAN_uc003kij.3_Missense_Mutation_p.S1468R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1119R NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2455 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACAAGAAAGCAGCACCACAT 0.448000 VCAN 1462 broad.mit.edu 37 5 82836404 82836404 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:82836404G>A uc003kii.3 + 8 7938 c.7582G>A c.(7582-7584)GAG>AAG p.E2528K VCAN_uc003kij.3_Missense_Mutation_p.E1541K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1192K NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2528 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGGGAATTCGAGGATTCCAC 0.408000 DMXL1 1657 broad.mit.edu 37 5 118533640 118533640 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:118533640C>T uc003ksd.2 + 32 7915 c.7734C>T c.(7732-7734)AAC>AAT p.N2578N DMXL1_uc010jcl.1_Silent_p.N2578N NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2578 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AACCTACAAACACTCCTTTCA 0.308000 ZNF474 133923 broad.mit.edu 37 5 121488536 121488536 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:121488536T>C uc003ksv.2 + 2 1227 c.851T>C c.(850-852)CTT>CCT p.L284P NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 284 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CAAGCTCAGCTTGTGTTCTGC 0.527000 NEUROG1 4762 broad.mit.edu 37 5 134871035 134871035 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:134871035G>A uc003lax.2 - 1 605 c.346C>T c.(346-348)CGC>TGC p.R116C NM_006161 NP_006152 Q92886 NGN1_HUMAN neurogenin 1 116 Helix-loop-helix motif. positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter nucleus chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCACGCTGCGCAGTGCGTCC 0.657000 PCDHB3 56132 broad.mit.edu 37 5 140482078 140482078 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:140482078C>T uc003lio.2 + 1 1845 c.1845C>T c.(1843-1845)TTC>TTT p.F615F uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 615 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGGCTGTTCGGCGTGTGGG 0.692000 C1QTNF2 114898 broad.mit.edu 37 5 159776631 159776631 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr5:159776631C>A uc003lyd.2 - 3 541 c.537G>T c.(535-537)GAG>GAT p.E179D NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 134 Collagen-like. collagen skin(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGGCCTGGCTCCCCCTTCT 0.677000 RNF182 221687 broad.mit.edu 37 6 13977379 13977379 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:13977379C>T uc003nbe.2 + 3 447 c.29C>T c.(28-30)GCG>GTG p.A10V RNF182_uc003nbf.2_Missense_Mutation_p.A10V|RNF182_uc003nbg.2_Missense_Mutation_p.A10V NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 10 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GAAGACACTGCGGAGTCTCAG 0.468000 BTN1A1 696 broad.mit.edu 37 6 26501921 26501921 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:26501921G>T uc003nif.3 + 2 203 c.183G>T c.(181-183)TTG>TTT p.L61F NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 61 Extracellular (Potential).|Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 CCGAGCACTTGGAGCTACGCT 0.677000 SCAND3 114821 broad.mit.edu 37 6 28543893 28543893 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:28543893T>C uc003nlo.2 - 3 1207 c.589A>G c.(589-591)ATG>GTG p.M197V NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 197 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGAGACATCATGGAAAACCAC 0.333000 GRM4 2914 broad.mit.edu 37 6 34004261 34004261 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:34004261G>A uc003oir.3 - 8 1796 c.1626C>T c.(1624-1626)TGC>TGT p.C542C GRM4_uc011dsn.1_Silent_p.C495C|GRM4_uc010jvh.2_Silent_p.C542C|GRM4_uc010jvi.2_Silent_p.C234C|GRM4_uc003oio.2_Silent_p.C234C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.C402C|GRM4_uc003oiq.2_Silent_p.C409C|GRM4_uc011dsm.1_Silent_p.C373C NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 542 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) TGCAAGGCTCGCAGTGCCAGC 0.657000 SYNE1 23345 broad.mit.edu 37 6 152563500 152563500 + Nonsense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:152563500G>A uc010kiw.2 - 107 20370 c.19768C>T c.(19768-19770)CAG>TAG p.Q6590* SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1114*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1114*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6519*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q6590* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6590 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTCATACTGACTCTTGAGT 0.478000 HNSCC(10;0.0054) MYCT1 80177 broad.mit.edu 37 6 153043291 153043291 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:153043291G>A uc003qpd.3 + 2 619 c.611G>A c.(610-612)CGT>CAT p.R204H MYCT1_uc010kjc.1_Missense_Mutation_p.R156H|MYCT1_uc003qpc.3_Missense_Mutation_p.R204H NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 204 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) AGTCTGAGCCGTCCTGACTAC 0.532000 FNDC1 84624 broad.mit.edu 37 6 159677562 159677562 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr6:159677562G>T uc010kjv.2 + 18 5273 c.5073G>T c.(5071-5073)TTG>TTT p.L1691F NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1691 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CAGGTTACTTGGTTTACAGTG 0.458000 POM121 9883 broad.mit.edu 37 7 72418975 72418975 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:72418975G>A uc010lam.1 + 16 4007 c.2966G>A c.(2965-2967)GGA>GAA p.G989E NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_Missense_Mutation_p.S275F|NSUN5P2_uc003twn.2_Missense_Mutation_p.S299F|NSUN5P2_uc003two.2_Missense_Mutation_p.S299F|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 Error:Variant_position_missing_in_Q96HA1_after_alignment carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) CCACGGAGAGGACAGGCATCT 0.572000 MAGI2 9863 broad.mit.edu 37 7 77789454 77789454 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:77789454G>A uc003ugx.2 - 16 2987 c.2733C>T c.(2731-2733)TTC>TTT p.F911F MAGI2_uc003ugy.2_Silent_p.F897F|MAGI2_uc010ldx.1_Silent_p.F504F NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 911 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGTGGGAGGCGAAGCCTTCAG 0.577000 SEMA3C 10512 broad.mit.edu 37 7 80432050 80432050 + Missense_Mutation SNP A A C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:80432050A>C uc003uhj.2 - 9 1409 c.847T>G c.(847-849)TTC>GTC p.F283V SEMA3C_uc011kgw.1_Missense_Mutation_p.F301V|SEMA3C_uc011kgx.1_Missense_Mutation_p.F135V NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 283 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 GCCTTTAAGAAAGTGGTCCAC 0.393000 RELN 5649 broad.mit.edu 37 7 103234184 103234184 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:103234184C>A uc003vca.2 - 27 4017 c.3857G>T c.(3856-3858)CGA>CTA p.R1286L RELN_uc010liz.2_Missense_Mutation_p.R1286L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1286 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TACTGCAAATCGATCTCCATC 0.403000 SLC26A4 5172 broad.mit.edu 37 7 107334909 107334909 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:107334909T>C uc003vep.2 + 11 1549 c.1325T>C c.(1324-1326)CTG>CCG p.L442P SLC26A4_uc011kmb.1_Missense_Mutation_p.L29P|SLC26A4_uc011kmc.1_Intron|SLC26A4_uc011kmd.1_Missense_Mutation_p.L11P NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 442 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GGGAAGCTTCTGGAACCCTTG 0.458000 Pendred_syndrome FLNC 2318 broad.mit.edu 37 7 128494556 128494556 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr7:128494556G>A uc003vnz.3 + 41 7026 c.6817G>A c.(6817-6819)GCC>ACC p.A2273T FLNC_uc003voa.3_Missense_Mutation_p.A2240T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2273 Filamin 20. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CGAGGACAGCGCCTACAGCGT 0.632000 MAK16 84549 broad.mit.edu 37 8 33353133 33353133 + Missense_Mutation SNP C C T rs150362163 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr8:33353133C>T uc003xjj.2 + 7 561 c.521C>T c.(520-522)ACG>ATG p.T174M C8orf41_uc010lvu.1_Intron NM_032509 NP_115898 Q9BXY0 MAK16_HUMAN MAK16 homolog 174 nucleolus ovary(1) 1 AAACAAGATACGGTGAGAAAG 0.343000 GRHL2 79977 broad.mit.edu 37 8 102570941 102570941 + Silent SNP C C T rs144668624 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr8:102570941C>T uc010mbu.2 + 4 909 c.579C>T c.(577-579)GAC>GAT p.D193D GRHL2_uc011lhi.1_Silent_p.D193D NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 193 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CTCAGTATGACGTGCCCTCGC 0.567000 SYBU 55638 broad.mit.edu 37 8 110588230 110588230 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr8:110588230G>T uc003ynj.3 - 7 1060 c.897C>A c.(895-897)ATC>ATA p.I299I SYBU_uc003yni.3_Silent_p.I296I|SYBU_uc003ynk.3_Silent_p.I180I|SYBU_uc010mco.2_Silent_p.I298I|SYBU_uc003ynl.3_Silent_p.I298I|SYBU_uc010mcp.2_Silent_p.I299I|SYBU_uc010mcq.2_Silent_p.I299I|SYBU_uc003yno.3_Silent_p.I180I|SYBU_uc010mcr.2_Silent_p.I299I|SYBU_uc003ynm.3_Silent_p.I298I|SYBU_uc003ynn.3_Silent_p.I298I|SYBU_uc010mcs.2_Silent_p.I180I|SYBU_uc010mct.2_Silent_p.I299I|SYBU_uc010mcu.2_Silent_p.I298I|SYBU_uc003ynp.3_Silent_p.I231I|SYBU_uc010mcv.2_Silent_p.I299I|SYBU_uc003ynh.3_Silent_p.I93I|SYBU_uc011lhw.1_Silent_p.I169I NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 299 Potential.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TAAGCTCCACGATTTCACTTT 0.463000 ADCY8 114 broad.mit.edu 37 8 131793086 131793086 + Silent SNP G G A rs145809062 TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr8:131793086G>A uc003ytd.3 - 18 3562 c.3306C>T c.(3304-3306)GGC>GGT p.G1102G ADCY8_uc010mds.2_Silent_p.G971G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1102 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTTTCTTAGCGCCGATAACGC 0.567000 HNSCC(32;0.087) TG 7038 broad.mit.edu 37 8 133882060 133882060 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr8:133882060G>A uc003ytw.2 + 3 304 c.263G>A c.(262-264)CGG>CAG p.R88Q NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 88 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCCAGGACGGCCTGTGGCT 0.622000 DMRT1 1761 broad.mit.edu 37 9 841979 841979 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:841979C>T uc003zgv.2 + 1 290 c.141C>T c.(139-141)GCC>GCT p.A47A DMRT1_uc003zgu.1_Silent_p.A47A NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 47 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) GCTCGAGCGCCGGGGGCAGCA 0.761000 RANBP6 26953 broad.mit.edu 37 9 6015438 6015438 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:6015438A>G uc003zjr.2 - 1 181 c.170T>C c.(169-171)GTC>GCC p.V57A RANBP6_uc011lmf.1_Missense_Mutation_p.V57A|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 57 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TCTATTTCTGACGGCATCTAA 0.473000 SVEP1 79987 broad.mit.edu 37 9 113171166 113171166 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:113171166G>A uc010mtz.2 - 38 7051 c.6714C>T c.(6712-6714)GTC>GTT p.V2238V SVEP1_uc010mty.2_Silent_p.V164V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2238 Sushi 14. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CAGGACTTCCGACTGACTTAT 0.502000 MUSK 4593 broad.mit.edu 37 9 113562732 113562732 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:113562732C>G uc004bey.2 + 14 2172 c.2074C>G c.(2074-2076)CCT>GCT p.P692A MUSK_uc004bez.1_Missense_Mutation_p.P272A NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 692 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 GGTCTCCAGCCCTGGGCCCCC 0.587000 COL27A1 85301 broad.mit.edu 37 9 117051000 117051000 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:117051000G>A uc011lxl.1 + 43 4063 c.4063G>A c.(4063-4065)GGA>AGA p.G1355R COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1355 Collagen-like 12.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GGGTGATCGAGGAGACCGCGG 0.612000 PTGS1 5742 broad.mit.edu 37 9 125154794 125154794 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:125154794G>A uc004bmg.1 + 11 1906 c.1771G>A c.(1771-1773)GCT>ACT p.A591T PTGS1_uc011lys.1_Missense_Mutation_p.A529T|PTGS1_uc010mwb.1_Missense_Mutation_p.A445T|PTGS1_uc004bmf.1_Missense_Mutation_p.A554T|PTGS1_uc004bmh.1_Missense_Mutation_p.A482T|PTGS1_uc011lyt.1_Missense_Mutation_p.A482T NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 591 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TGATGGGCCTGCTGTGGAGCG 0.582000 FCN1 2219 broad.mit.edu 37 9 137806261 137806261 + Nonsense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:137806261G>A uc004cfi.2 - 4 369 c.277C>T c.(277-279)CGA>TGA p.R93* NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 93 Collagen-like. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TTCTCTCCTCGGTCTCCTGGA 0.617000 MAGEB18 286514 broad.mit.edu 37 X 26158023 26158023 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chrX:26158023G>C uc004dbq.1 + 2 1108 c.921G>C c.(919-921)TTG>TTC p.L307F NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 307 protein binding central_nervous_system(1) 1 AAGAGGCTTTGAGGGATGAGG 0.527000 TRO 7216 broad.mit.edu 37 X 54950962 54950962 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chrX:54950962C>T uc004dtq.2 + 4 1422 c.1315C>T c.(1315-1317)CGA>TGA p.R439* TRO_uc004dts.2_Nonsense_Mutation_p.R439*|TRO_uc004dtr.2_Nonsense_Mutation_p.R439*|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Nonsense_Mutation_p.R42*|TRO_uc011mok.1_5'UTR|TRO_uc004dtw.2_Nonsense_Mutation_p.R42*|TRO_uc004dtx.2_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 439 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TGCACCACCGCGAGATGTGGC 0.502000 NAP1L2 4674 broad.mit.edu 37 X 72433043 72433043 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chrX:72433043T>C uc004ebi.2 - 1 1642 c.1286A>G c.(1285-1287)TAT>TGT p.Y429C NAP1L2_uc011mqj.1_Missense_Mutation_p.Y287C NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 429 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) AATTTTGTCATAAATTGCATC 0.358000 CXorf48 54967 broad.mit.edu 37 X 134294425 134294425 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chrX:134294425C>A uc004eyk.1 - 3 991 c.335G>T c.(334-336)AGA>ATA p.R112I CXorf48_uc004eyl.1_Missense_Mutation_p.R112I NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN hypothetical protein LOC54967 isoform 1 112 0 Acute lymphoblastic leukemia(192;0.000127) AATTAAAACTCTGGTTCCTGA 0.328000 PDZD4 57595 broad.mit.edu 37 X 153072792 153072792 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chrX:153072792G>A uc004fiz.1 - 3 579 c.329C>T c.(328-330)GCG>GTG p.A110V PDZD4_uc004fiy.1_Missense_Mutation_p.A35V|PDZD4_uc004fix.2_Missense_Mutation_p.A14V|PDZD4_uc004fja.1_Missense_Mutation_p.A116V|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 110 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATAAACTCCGCCGGGTCATA 0.672000 NAPB 63908 broad.mit.edu 37 20 23370595 23370596 + Frame_Shift_Ins INS - - T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:23370595_23370596insT uc002wta.2 - 7 665_666 c.548_549insA c.(547-549)GAGfs p.E183fs NAPB_uc002wtc.2_Frame_Shift_Ins_p.E89fs|NAPB_uc002wtb.2_Frame_Shift_Ins_p.E187fs|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Frame_Shift_Ins_p.E70fs|NAPB_uc010zst.1_Frame_Shift_Ins_p.E144fs NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 183 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) GCTCATAGATCTCAATGGCTTT 0.376 CDKN2A 1029 broad.mit.edu 37 9 21974697 21974697 + Frame_Shift_Del DEL A A - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:21974697delA uc003zpk.2 - 1 342 c.130delT c.(130-132)TACfs p.Y44fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.Y44fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 44 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.Y44S(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTCCGACCGTAACTATTCGGT 0.692 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) IFNA16 3449 broad.mit.edu 37 9 21216967 21216968 + Frame_Shift_Ins INS - - A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr9:21216966_21216967G>GA uc003zor.1 - 0 344_345 c.338_339C>TC c.(337-339)ttcfs p.F113fs IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 113 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.L112R(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TCAGTTGCTGGAAAAGTTCAAT 0.470 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 ZSCAN18 65982 broad.mit.edu 37 19 58600101 58600102 + Frame_Shift_Ins INS - - G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr19:58600100_58600101T>TG uc010yht.1 - 2 705_706 c.675_676A>CA c.(673-678)cccagcfs p.P225fs ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 169 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGGGCCTGGCTGGGGCTCGCGA 0.649 NAPB 63908 broad.mit.edu 37 20 23370596 23370597 + Frame_Shift_Ins INS - - T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 g.chr20:23370595_23370596C>CT uc002wtb.3 - 6 677_678 c.560_561G>AG c.(559-561)gagfs p.E187fs NAPB_uc002wta.3_Frame_Shift_Ins_p.E183fs|NAPB_uc002wtc.3_Frame_Shift_Ins_p.E89fs|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zss.1_Frame_Shift_Ins_p.E70fs|NAPB_uc010zst.1_Frame_Shift_Ins_p.E144fs NM_022080 NP_071363 Q9H115 SNAB_HUMAN Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA. 183 intracellular protein transport|vesicle-mediated transport membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) GCTCATAGATCTCAATGGCTTT 0.386