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 MPL 4352 broad.mit.edu 37 1 43817973 43817973 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:43817973C>T uc001ciw.2 + 11 1697 c.1652C>T c.(1651-1653)CCG>CTG p.P551L MPL_uc009vwr.2_Missense_Mutation_p.P544L NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 551 Cytoplasmic (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCTGAGCCCGGTGAGTGTG 0.607000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia C1orf175 374977 broad.mit.edu 37 1 55119744 55119744 + Missense_Mutation SNP G G C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:55119744G>C uc010ooe.1 + 3 1469 c.1145G>C c.(1144-1146)AGC>ACC p.S382T C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.S382T|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.S382T|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 382 integral to membrane binding 0 GAGATGGCCAGCATTAAGGTG 0.602000 DNAJC6 9829 broad.mit.edu 37 1 65855119 65855119 + Silent SNP G G A rs148673423 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:65855119G>A uc001dcd.1 + 10 1367 c.1203G>A c.(1201-1203)ACG>ACA p.T401T DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc010opc.1_Silent_p.T388T|DNAJC6_uc001dce.1_Silent_p.T458T NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 401 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 ATCAAGATACGCTGGCCTTAG 0.413000 SH3GLB1 51100 broad.mit.edu 37 1 87188235 87188235 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:87188235T>G uc001dlw.2 + 4 682 c.356T>G c.(355-357)ATT>AGT p.I119S SH3GLB1_uc001dlx.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dly.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dlz.2_Missense_Mutation_p.I19S NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 119 BAR. anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) AATGCCCTTATTAAATGTGGA 0.308000 ABCA4 24 broad.mit.edu 37 1 94568687 94568687 + Nonsense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:94568687G>A uc001dqh.2 - 5 558 c.454C>T c.(454-456)CGA>TGA p.R152* ABCA4_uc010otn.1_Nonsense_Mutation_p.R152* NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 152 Extracellular. R -> Q. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCCCTTATTCGTATTCCTCTT 0.393000 SLC6A17 388662 broad.mit.edu 37 1 110716597 110716597 + Silent SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:110716597C>A uc009wfq.2 + 4 908 c.447C>A c.(445-447)GTC>GTA p.V149V NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 149 Helical; Name=3; (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GTCCCCAGGTCTGTCTCTTTG 0.587000 SLC16A4 9122 broad.mit.edu 37 1 110925481 110925481 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:110925481G>A uc001dzo.1 - 3 377 c.195C>T c.(193-195)ATC>ATT p.I65I SLC16A4_uc009wfs.1_Silent_p.I65I|SLC16A4_uc001dzp.1_Silent_p.I65I|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 65 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GAGATGACATGATGGATCCAA 0.413000 HIPK1 204851 broad.mit.edu 37 1 114484035 114484035 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:114484035G>A uc001eem.2 + 2 1191 c.1030G>A c.(1030-1032)GTT>ATT p.V344I HIPK1_uc001eel.2_Missense_Mutation_p.V344I|HIPK1_uc001een.2_Missense_Mutation_p.V344I NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 344 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCTAGTCACGTTTCCAAAGC 0.458000 HAO2 51179 broad.mit.edu 37 1 119927488 119927488 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:119927488C>T uc001ehq.1 + 5 725 c.373C>T c.(373-375)CGA>TGA p.R125* HAO2_uc001ehr.1_Nonsense_Mutation_p.R125* NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 125 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CGAAGGCCTCCGATGGTTCCA 0.488000 TCHH 7062 broad.mit.edu 37 1 152081617 152081617 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:152081617T>C uc001ezp.2 - 2 4076 c.4076A>G c.(4075-4077)GAC>GGC p.D1359G TCHH_uc009wne.1_Missense_Mutation_p.D1359G NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1359 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATTTTCTGTCACGCTCTTG 0.567000 S100A13 6284 broad.mit.edu 37 1 153598898 153598898 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:153598898G>A uc001fcf.3 - 2 210 c.51C>T c.(49-51)GTC>GTT p.V17V S100A13_uc001fcg.2_Silent_p.V17V|S100A13_uc009woh.2_Silent_p.V17V|S100A13_uc001fch.2_Silent_p.V17V|S100A13_uc001fci.2_Silent_p.V17V|S100A13_uc001fcj.2_Silent_p.V17V|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank NM_001024213 NP_001019384 Q99584 S10AD_HUMAN S100 calcium binding protein A13 17 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) AGAAGGTGGTGACCACGGTCT 0.557000 PVRL4 81607 broad.mit.edu 37 1 161044471 161044471 + Silent SNP G G A rs147409977 byFrequency TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:161044471G>A uc001fxo.2 - 5 1229 c.930C>T c.(928-930)AGC>AGT p.S310S PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.S44S NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 310 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CGTAGATGCCGCTGTGCTCAG 0.557000 TOR1AIP2 163590 broad.mit.edu 37 1 179815828 179815828 + Missense_Mutation SNP T T A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:179815828T>A uc001gnk.2 - 6 1179 c.791A>T c.(790-792)GAT>GTT p.D264V TOR1AIP2_uc001gnl.2_Missense_Mutation_p.D264V NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 264 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 TGGAAATTTATCTTCCAATTG 0.502000 KCNH1 3756 broad.mit.edu 37 1 210857160 210857160 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:210857160G>A uc001hib.2 - 11 2603 c.2433C>T c.(2431-2433)CAC>CAT p.H811H KCNH1_uc001hic.2_Silent_p.H784H NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 811 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTAGCTTTGCGTGGTCTGGCA 0.672000 PROX1 5629 broad.mit.edu 37 1 214170542 214170542 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:214170542C>T uc001hkh.2 + 2 936 c.664C>T c.(664-666)CAG>TAG p.Q222* PROX1_uc001hkg.1_Nonsense_Mutation_p.Q222* NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 222 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) ACAGAGTTTCCAGCAGCTGGT 0.537000 TRIM67 440730 broad.mit.edu 37 1 231335945 231335945 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:231335945G>A uc009xfn.1 + 4 1357 c.1315G>A c.(1315-1317)GGA>AGA p.G439R NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 439 cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) TCAGTCCACCGGACTGATGGA 0.517000 OR2C3 81472 broad.mit.edu 37 1 247695143 247695143 + Missense_Mutation SNP C C T rs146068024 byFrequency TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:247695143C>T uc009xgy.2 - 2 1033 c.671G>A c.(670-672)CGG>CAG p.R224Q C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAACACGGCCCGGGCAATGTG 0.547000 OR2L8 391190 broad.mit.edu 37 1 248112179 248112179 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:248112179C>A uc001idt.1 + 1 20 c.20C>A c.(19-21)ACA>AAA p.T7K OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TACAATCAAACATCAACTGAT 0.313000 OR2M5 127059 broad.mit.edu 37 1 248308649 248308649 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:248308649T>C uc010pze.1 + 1 200 c.200T>C c.(199-201)TTC>TCC p.F67S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AGTCAACTGTTCCTCATGGAC 0.507000 ASB13 79754 broad.mit.edu 37 10 5693205 5693205 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:5693205G>A uc001iig.2 - 3 397 c.353C>T c.(352-354)GCG>GTG p.A118V ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.A118V NM_024701 NP_078977 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box-containing protein 118 ANK 4. intracellular signal transduction protein binding ovary(1) 1 GBM - Glioblastoma multiforme(2;9.59e-09) CAGGGGGGACGCTGTGTACAG 0.642000 FBXO18 84893 broad.mit.edu 37 10 5956183 5956183 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:5956183G>A uc001iis.2 + 8 1442 c.1347G>A c.(1345-1347)CTG>CTA p.L449L FBXO18_uc001iir.2_Silent_p.L375L|FBXO18_uc009xig.2_Silent_p.L375L|FBXO18_uc001iit.2_Silent_p.L500L NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 449 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 AGCTGATTCTGAATCACAAGA 0.433000 ANKRD30A 91074 broad.mit.edu 37 10 37490214 37490214 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:37490214C>A uc001iza.1 + 31 2761 c.2662C>A c.(2662-2664)CAT>AAT p.H888N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 944 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAAGGCTACACATCAAAAAGA 0.308000 ZNF33A 7581 broad.mit.edu 37 10 38344156 38344156 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:38344156T>G uc001izh.2 + 5 1279 c.1101T>G c.(1099-1101)GAT>GAG p.D367E ZNF33A_uc001izg.2_Missense_Mutation_p.D368E|ZNF33A_uc010qev.1_Missense_Mutation_p.D374E|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 367 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CTTTCTGGGATAAGTCAAACC 0.433000 ZNF33A 7581 broad.mit.edu 37 10 38344180 38344180 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:38344180A>G uc001izh.2 + 5 1303 c.1125A>G c.(1123-1125)CAA>CAG p.Q375Q ZNF33A_uc001izg.2_Silent_p.Q376Q|ZNF33A_uc010qev.1_Silent_p.Q382Q|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 375 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CTAAACATCAAAGATCACACA 0.433000 KNDC1 85442 broad.mit.edu 37 10 135013926 135013926 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr10:135013926G>A uc001llz.1 + 16 2952 c.2951G>A c.(2950-2952)CGC>CAC p.R984H KNDC1_uc001lma.1_Missense_Mutation_p.R919H|KNDC1_uc001lmb.1_Missense_Mutation_p.R396H NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 984 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CAAAGCCCCCGCTCCCCGTCC 0.706000 OR51B5 282763 broad.mit.edu 37 11 5364235 5364235 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:5364235G>T uc001map.1 - 1 520 c.520C>A c.(520-522)CAT>AAT p.H174N HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.H174N NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAATGCATGTGAAAGAACA 0.463000 SBF2 81846 broad.mit.edu 37 11 9801995 9801995 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:9801995G>T uc001mib.2 - 40 5658 c.5520C>A c.(5518-5520)GAC>GAA p.D1840E uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.D484E|SBF2_uc001mic.2_Missense_Mutation_p.D130E|uc001mie.3_RNA NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1840 PH. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCTGGATCTTGTCCATCCATT 0.473000 PTPN5 84867 broad.mit.edu 37 11 18754846 18754846 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:18754846C>T uc001mpd.2 - 11 1585 c.1154G>A c.(1153-1155)CGC>CAC p.R385H PTPN5_uc001mpb.2_Missense_Mutation_p.R353H|PTPN5_uc001mpc.2_Missense_Mutation_p.R385H|PTPN5_uc001mpe.2_Missense_Mutation_p.R353H|PTPN5_uc010rdj.1_Missense_Mutation_p.R329H|PTPN5_uc001mpf.2_Missense_Mutation_p.R361H|PTPN5_uc010rdk.1_Missense_Mutation_p.R330H NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 385 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 CCACACCATGCGCCAGAAGTC 0.597000 CKAP5 9793 broad.mit.edu 37 11 46774874 46774874 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:46774874C>G uc001ndi.1 - 37 5153 c.5043G>C c.(5041-5043)CAG>CAC p.Q1681H CKAP5_uc009ylg.1_Missense_Mutation_p.Q1567H|CKAP5_uc001ndj.1_Missense_Mutation_p.Q1621H|CKAP5_uc001ndh.1_Missense_Mutation_p.Q610H NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1681 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GGATGTTGGTCTGGTCTGACT 0.468000 OR4A16 81327 broad.mit.edu 37 11 55111534 55111534 + Silent SNP G G A rs77217348 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:55111534G>A uc010rie.1 + 1 858 c.858G>A c.(856-858)TCG>TCA p.S286S NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TAATATACTCGTTGAGACAAT 0.303000 OR4C11 219429 broad.mit.edu 37 11 55371590 55371590 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:55371590T>C uc010rii.1 - 1 260 c.260A>G c.(259-261)AAG>AGG p.K87R NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TATAATTTTCTTTTCAGAGAG 0.398000 OR5R1 219479 broad.mit.edu 37 11 56185309 56185309 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:56185309T>G uc010rji.1 - 1 400 c.400A>C c.(400-402)ACA>CCA p.T134P NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GACATCAGTGTTGAATAATGC 0.468000 OR9G4 283189 broad.mit.edu 37 11 56510658 56510658 + Silent SNP G G A rs149148369 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:56510658G>A uc010rjo.1 - 1 630 c.630C>T c.(628-630)TAC>TAT p.Y210Y NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 210 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGACTTTTTCGTAGACCCTGG 0.438000 ANKRD42 338699 broad.mit.edu 37 11 82935914 82935914 + Nonsense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:82935914G>T uc001ozz.1 + 6 942 c.520G>T c.(520-522)GAA>TAA p.E174* ANKRD42_uc010rsv.1_Nonsense_Mutation_p.E202*|ANKRD42_uc001paa.2_Nonsense_Mutation_p.E202*|ANKRD42_uc001pab.1_Nonsense_Mutation_p.E201* NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 174 ANK 5. skin(1) 1 AGCAGCCATGGAAGGCCACCT 0.284000 GPR83 10888 broad.mit.edu 37 11 94134339 94134339 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:94134339G>A uc001pet.2 - 1 247 c.75C>T c.(73-75)GAC>GAT p.D25D NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 25 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CGCTCTGCTCGTCGGCCCGGC 0.652000 DDI1 414301 broad.mit.edu 37 11 103907697 103907697 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:103907697C>T uc001phr.2 + 1 390 c.147C>T c.(145-147)CAC>CAT p.H49H PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 49 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AGATCATCCACATGGAGCGAC 0.562000 NFRKB 4798 broad.mit.edu 37 11 129758493 129758493 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr11:129758493G>T uc001qfi.2 - 4 534 c.333C>A c.(331-333)TTC>TTA p.F111L NFRKB_uc001qfg.2_Missense_Mutation_p.F124L|NFRKB_uc001qfh.2_Missense_Mutation_p.F134L|NFRKB_uc010sbw.1_Missense_Mutation_p.F111L NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 111 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ACAAACCTCGGAAAAGCTTCT 0.463000 WNT10B 7480 broad.mit.edu 37 12 49364277 49364277 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr12:49364277C>T uc001rss.2 - 2 382 c.36G>A c.(34-36)TCG>TCA p.S12S WNT10B_uc001rst.2_Silent_p.S12S NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 12 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 CCGCGAGGCCCGAGGGCGGAG 0.682000 TPH2 121278 broad.mit.edu 37 12 72366481 72366481 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr12:72366481C>T uc009zrw.1 + 6 932 c.791C>T c.(790-792)TCC>TTC p.S264F TPH2_uc001swy.2_Missense_Mutation_p.S174F NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 264 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GAAGATGTCTCCATGTTTCTG 0.438000 CIT 11113 broad.mit.edu 37 12 120150501 120150501 + Splice_Site SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr12:120150501C>T uc001txi.1 - 35 4507 c.4454_splice c.e35-1 p.A1485_splice CIT_uc001txh.1_Splice_Site_p.A1004_splice|CIT_uc001txj.1_Splice_Site_p.A1527_splice NM_007174 NP_009105 O14578 CTRO_HUMAN citron intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTCTGTCCAGCTTGGTGCaaa 0.294000 TMEM132D 121256 broad.mit.edu 37 12 129822189 129822189 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr12:129822189G>A uc009zyl.1 - 4 1617 c.1289C>T c.(1288-1290)CCG>CTG p.P430L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 430 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CATAGCCAGCGGCACAACTCC 0.612000 FREM2 341640 broad.mit.edu 37 13 39262163 39262163 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr13:39262163C>A uc001uwv.2 + 1 991 c.682C>A c.(682-684)CCT>ACT p.P228T NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 228 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGGCGCGCTGCCTCGCTATGG 0.667000 DCAF4 26094 broad.mit.edu 37 14 73425480 73425480 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr14:73425480C>T uc001xng.2 + 14 1675 c.1455C>T c.(1453-1455)GTC>GTT p.V485V DCAF4_uc001xnj.2_Silent_p.V479V|DCAF4_uc010ttr.1_Silent_p.V464V|DCAF4_uc001xnh.2_Silent_p.V385V|DCAF4_uc010tts.1_Silent_p.V425V|DCAF4_uc010ttt.1_Silent_p.V271V|DCAF4_uc001xni.2_Silent_p.V315V NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 485 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 TCATGGCTGTCGGGCAGGACC 0.607000 ABCD4 5826 broad.mit.edu 37 14 74757026 74757026 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr14:74757026C>T uc001xpr.2 - 12 1447 c.1295G>A c.(1294-1296)CGG>CAG p.R432Q ABCD4_uc001xps.2_Missense_Mutation_p.R273Q|ABCD4_uc001xpt.2_Missense_Mutation_p.R273Q|ABCD4_uc010tur.1_Missense_Mutation_p.R328Q|ABCD4_uc001xpu.2_Missense_Mutation_p.R169Q NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 432 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) ACCCAGAACCCGGAGCAAGGA 0.632000 OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NEK9 91754 broad.mit.edu 37 14 75573236 75573236 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr14:75573236C>T uc001xrl.2 - 12 1651 c.1497G>A c.(1495-1497)AAG>AAA p.K499K NEK9_uc001xrk.2_5'UTR NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 499 RCC1 3. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) AATAGACTTCCTTGTTTCGTG 0.478000 KIAA1409 57578 broad.mit.edu 37 14 94088869 94088869 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr14:94088869C>T uc001ybv.1 + 28 4908 c.4825C>T c.(4825-4827)CAC>TAC p.H1609Y KIAA1409_uc001ybs.1_Missense_Mutation_p.H1587Y NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1764 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GCTGGATGATCACCCTGACCC 0.582000 TJP1 7082 broad.mit.edu 37 15 30011254 30011254 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr15:30011254G>T uc001zcr.2 - 21 3567 c.3092C>A c.(3091-3093)CCA>CAA p.P1031Q TJP1_uc010azl.2_Missense_Mutation_p.P1019Q|TJP1_uc001zcq.2_Missense_Mutation_p.P955Q|TJP1_uc001zcs.2_Missense_Mutation_p.P951Q NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1031 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CTCTTTGTCTGGCCTGTGCCC 0.483000 DUOX1 53905 broad.mit.edu 37 15 45433197 45433197 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr15:45433197C>T uc001zus.1 + 14 1840 c.1494C>T c.(1492-1494)AGC>AGT p.S498S DUOX1_uc001zut.1_Silent_p.S498S|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 498 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTCTGTTCAGCACCATCGTCC 0.607000 SALL1 6299 broad.mit.edu 37 16 51173642 51173642 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr16:51173642C>T uc010vgs.1 - 2 2522 c.2491G>A c.(2491-2493)GAC>AAC p.D831N SALL1_uc010vgr.1_Missense_Mutation_p.D734N|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 831 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCAGGACAGTCTTCCATGTTT 0.502000 POLR2C 5432 broad.mit.edu 37 16 57503205 57503205 + Silent SNP G G A rs141472105 byFrequency TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr16:57503205G>A uc002elt.1 + 5 473 c.387G>A c.(385-387)CCG>CCA p.P129P POLR2C_uc010vhq.1_Silent_p.P129P NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 129 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 GGGTCATTCCGGTCAGTGCGG 0.562000 ZNF594 84622 broad.mit.edu 37 17 5085395 5085395 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:5085395C>T uc010cla.1 - 2 2313 c.2157G>A c.(2155-2157)TGG>TGA p.W719* NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 719 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 AAGCCGTGTGCCACATGAAGA 0.463000 MYH8 4626 broad.mit.edu 37 17 10300223 10300223 + Missense_Mutation SNP G G A rs150344258 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:10300223G>A uc002gmm.2 - 31 4354 c.4259C>T c.(4258-4260)ACG>ATG p.T1420M uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1420 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CCGCTGCTTCGTCTTCTCAAG 0.493000 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH2 4620 broad.mit.edu 37 17 10427134 10427134 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:10427134T>C uc010coi.2 - 36 5371 c.5243A>G c.(5242-5244)GAG>GGG p.E1748G uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1748G|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1748 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GAGAATGTCCTCCATCTCTCC 0.428000 MYOCD 93649 broad.mit.edu 37 17 12656558 12656558 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:12656558G>T uc002gnn.2 + 10 2252 c.1953G>T c.(1951-1953)TTG>TTT p.L651F MYOCD_uc002gno.2_Missense_Mutation_p.L651F|MYOCD_uc002gnp.1_Missense_Mutation_p.L555F|MYOCD_uc002gnq.2_Missense_Mutation_p.L370F NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 651 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACATCAGTTTGCCCCCATCAC 0.582000 EPN2 22905 broad.mit.edu 37 17 19235245 19235245 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:19235245C>T uc002gvd.3 + 10 1939 c.1491C>T c.(1489-1491)GTC>GTT p.V497V EPN2_uc010cql.1_Silent_p.V206V|EPN2_uc002gve.3_Silent_p.V440V|EPN2_uc002gvf.3_Silent_p.V212V|EPN2_uc010vyo.1_Silent_p.V205V|EPN2_uc010vyp.1_Silent_p.V433V|EPN2_uc010vyq.1_Silent_p.V434V|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Silent_p.V160V NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 497 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCCTGACTGTCGCCTCAAGCA 0.582000 ACACA 31 broad.mit.edu 37 17 35545362 35545362 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:35545362C>T uc002hnm.2 - 39 4711 c.4520G>A c.(4519-4521)CGC>CAC p.R1507H ACACA_uc002hnk.2_Missense_Mutation_p.R1429H|ACACA_uc002hnl.2_Missense_Mutation_p.R1449H|ACACA_uc002hnn.2_Missense_Mutation_p.R1507H|ACACA_uc002hno.2_Missense_Mutation_p.R1544H|ACACA_uc010cuy.2_Missense_Mutation_p.R201H NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1507 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGGAGGACGCGCAATTTCCA 0.483000 SLC39A11 201266 broad.mit.edu 37 17 70943979 70943979 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:70943979C>T uc002jjb.2 - 5 457 c.342G>A c.(340-342)CTG>CTA p.L114L SLC39A11_uc002jja.2_Silent_p.L114L|SLC39A11_uc002jjc.1_Silent_p.L114L NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 114 zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 AGCCGAAGTTCAGTGCCAGGG 0.537000 USH1G 124590 broad.mit.edu 37 17 72916569 72916569 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:72916569G>A uc002jme.1 - 2 545 c.362C>T c.(361-363)GCG>GTG p.A121V USH1G_uc010wro.1_Missense_Mutation_p.A18V NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 121 ANK 3. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) CTGCTTGGCCGCGATGGAGTC 0.637000 EXOC7 23265 broad.mit.edu 37 17 74087260 74087260 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:74087260C>T uc002jqs.2 - 7 960 c.865G>A c.(865-867)GGG>AGG p.G289R EXOC7_uc010dgv.1_Missense_Mutation_p.G236R|EXOC7_uc002jqq.2_Missense_Mutation_p.G289R|EXOC7_uc010wsw.1_Missense_Mutation_p.G289R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.G248R NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 289 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) CCCTTTTTCCCATCTAGACCA 0.532000 ENPP7 339221 broad.mit.edu 37 17 77709072 77709072 + Silent SNP G G A rs146147882 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr17:77709072G>A uc002jxa.2 + 3 650 c.630G>A c.(628-630)CCG>CCA p.P210P NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 210 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCGAGTCCCCGGAGAGGAGGG 0.647000 EVI5L 115704 broad.mit.edu 37 19 7911558 7911558 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:7911558C>A uc002min.2 + 2 284 c.130C>A c.(130-132)CAG>AAG p.Q44K EVI5L_uc010xjz.1_Missense_Mutation_p.Q44K NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 44 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GCTCGAAGAGCAGAACCGGTG 0.652000 PRAM1 84106 broad.mit.edu 37 19 8555622 8555622 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:8555622C>T uc002mkd.2 - 7 1782 c.1762G>A c.(1762-1764)GTT>ATT p.V588I PRAM1_uc002mkc.2_Missense_Mutation_p.V587I NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 636 SH3. lipid binding|protein binding 0 TTCGTGTGAACCACGATCTCC 0.617000 KIRREL2 84063 broad.mit.edu 37 19 36351817 36351817 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:36351817C>T uc002ocb.3 + 8 1147 c.935C>T c.(934-936)CCG>CTG p.P312L KIRREL2_uc002obz.3_Missense_Mutation_p.P312L|KIRREL2_uc002oca.3_Missense_Mutation_p.P262L|KIRREL2_uc002occ.3_Missense_Mutation_p.P259L|KIRREL2_uc002ocd.3_Missense_Mutation_p.P309L NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 312 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGTTGGGCCGATTCTGCAG 0.647000 ZNF420 147923 broad.mit.edu 37 19 37619007 37619007 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:37619007T>C uc002ofl.2 + 5 1329 c.1114T>C c.(1114-1116)TTT>CTT p.F372L NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 372 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGGAAGGCCTTTATCCGTGG 0.433000 IL28B 282617 broad.mit.edu 37 19 39734787 39734787 + Missense_Mutation SNP C C T rs144570763 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:39734787C>T uc010xut.1 - 3 273 c.269G>A c.(268-270)CGC>CAC p.R90H IL28B_uc010xuu.1_Missense_Mutation_p.R90H NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 90 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGCCACGGGGCGCTCCCTCAC 0.378000 ARHGEF1 9138 broad.mit.edu 37 19 42396407 42396407 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:42396407C>T uc002orx.2 + 6 439 c.330C>T c.(328-330)CTC>CTT p.L110L ARHGEF1_uc002orw.1_Silent_p.L110L|ARHGEF1_uc002ory.2_Silent_p.L77L|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Silent_p.L125L|ARHGEF1_uc002osb.2_Silent_p.L92L NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 110 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) AGCAGGTTCTCCGGGTGCCGG 0.607000 PNMAL1 55228 broad.mit.edu 37 19 46973369 46973369 + Silent SNP C C T rs112515812 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:46973369C>T uc002peq.3 - 2 1230 c.924G>A c.(922-924)GCG>GCA p.A308A PNMAL1_uc002per.3_Silent_p.A308A NM_018215 NP_060685 Q86V59 PNML1_HUMAN PNMA-like 1 isoform a 308 0 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) AGGCACATTTCGCCATGGGCT 0.587000 PIH1D1 55011 broad.mit.edu 37 19 49954783 49954783 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:49954783T>C uc002pns.2 - 1 333 c.49A>G c.(49-51)ATC>GTC p.I17V PIH1D1_uc010yap.1_Missense_Mutation_p.I17V|PIH1D1_uc010yaq.1_Missense_Mutation_p.I17V|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 17 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) TCAGCACCGATCGCCTCCGCC 0.602000 ZNF549 256051 broad.mit.edu 37 19 58049391 58049391 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr19:58049391C>T uc002qpb.1 + 4 1268 c.1019C>T c.(1018-1020)TCA>TTA p.S340L ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S327L NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 340 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTGGGAAATCATTCCGCCAC 0.428000 TTC31 64427 broad.mit.edu 37 2 74719180 74719180 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr2:74719180C>A uc002slt.2 + 9 949 c.926C>A c.(925-927)GCA>GAA p.A309E TTC31_uc002sls.2_3'UTR|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.A163E NM_022492 NP_071937 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 309 TPR 1. binding 0 CAGGAACTGGCAAGTGAGATC 0.577000 ATOH8 84913 broad.mit.edu 37 2 85981537 85981537 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr2:85981537G>A uc002sqn.2 + 1 629 c.225G>A c.(223-225)CCG>CCA p.P75P ATOH8_uc002sqm.3_Silent_p.P75P NM_032827 NP_116216 Q96SQ7 ATOH8_HUMAN atonal homolog 8 75 Pro-rich. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 TACCGGTGCCGGTGCCAGTCC 0.751000 NPAS2 4862 broad.mit.edu 37 2 101606898 101606898 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr2:101606898C>T uc002tap.1 + 18 2294 c.2008C>T c.(2008-2010)CGG>TGG p.R670W NPAS2_uc010yvt.1_Missense_Mutation_p.R735W|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 670 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 CAGCCATGATCGGCAGCTCAG 0.557000 GALNT13 114805 broad.mit.edu 37 2 155099285 155099285 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr2:155099285C>T uc002tyr.3 + 6 1120 c.553C>T c.(553-555)CGC>TGC p.R185C GALNT13_uc002tyt.3_Missense_Mutation_p.R185C|GALNT13_uc010foc.1_Missense_Mutation_p.R4C NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 185 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GATGGAAGAACGCTCTGGGTT 0.388000 PIKFYVE 200576 broad.mit.edu 37 2 209190439 209190439 + Silent SNP T T A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr2:209190439T>A uc002vcz.2 + 20 3062 c.2904T>A c.(2902-2904)CCT>CCA p.P968P PIKFYVE_uc010fun.1_Silent_p.P649P|PIKFYVE_uc002vcy.1_Silent_p.P912P NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 968 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CGGGTCTCCCTTGTGCTTTCT 0.502000 C20orf54 113278 broad.mit.edu 37 20 741724 741724 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr20:741724G>A uc002wed.3 - 5 1695 c.1356C>T c.(1354-1356)AAC>AAT p.N452N C20orf54_uc002wee.2_3'UTR NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 452 Helical; (Potential). sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GCCGCAGCACGTTGACCAGAG 0.692000 BFSP1 631 broad.mit.edu 37 20 17474983 17474983 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr20:17474983G>A uc002wpo.2 - 8 1773 c.1734C>T c.(1732-1734)CCC>CCT p.P578P BFSP1_uc002wpp.2_Silent_p.P453P|BFSP1_uc010zrn.1_Silent_p.P439P|BFSP1_uc010zro.1_Silent_p.P439P NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 578 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 CCTCTGCACCGGGTGTGACCA 0.577000 NCOA6 23054 broad.mit.edu 37 20 33329879 33329879 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr20:33329879C>T uc002xav.2 - 12 6752 c.4181G>A c.(4180-4182)AGT>AAT p.S1394N NCOA6_uc002xaw.2_Missense_Mutation_p.S1394N NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1394 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 ATTCAGCCCACTGTTGTTAGG 0.507000 CHD6 84181 broad.mit.edu 37 20 40084476 40084476 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr20:40084476G>A uc002xka.1 - 19 3151 c.2973C>T c.(2971-2973)ACC>ACT p.T991T CHD6_uc002xkd.2_Silent_p.T969T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 991 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CAGACTGGATGGTGATGGTGT 0.478000 GRIK1 2897 broad.mit.edu 37 21 31062113 31062113 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr21:31062113G>T uc002yno.1 - 3 943 c.479C>A c.(478-480)GCG>GAG p.A160E GRIK1_uc002ynn.2_Missense_Mutation_p.A160E|GRIK1_uc011acs.1_Missense_Mutation_p.A160E|GRIK1_uc011act.1_Missense_Mutation_p.A104E|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.A160E NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 160 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) ATCCAGGATCGCCCTGCTGAT 0.483000 KRTAP19-1 337882 broad.mit.edu 37 21 31852625 31852625 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr21:31852625G>A uc011acx.1 - 1 12 c.12C>T c.(10-12)TAC>TAT p.Y4Y NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 4 intermediate filament 0 AGTAGCTGCCGTAGTGACTCA 0.547000 YPEL1 29799 broad.mit.edu 37 22 22057675 22057675 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr22:22057675G>A uc002zvl.2 - 4 586 c.254C>T c.(253-255)ACG>ATG p.T85M YPEL1_uc002zvm.2_RNA NM_013313 NP_037445 O60688 YPEL1_HUMAN yippee-like 1 85 nucleus 0 Colorectal(54;0.105) CCACCCGAGCGTGGTCTTGCA 0.632000 CERK 64781 broad.mit.edu 37 22 47091193 47091193 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr22:47091193G>A uc003bia.2 - 9 1070 c.963C>T c.(961-963)TCC>TCT p.S321S CERK_uc010hae.2_Silent_p.S123S NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 321 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCAGTGGTGGGAGAGGAAGG 0.527000 TYMP 1890 broad.mit.edu 37 22 50967595 50967595 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr22:50967595G>A uc003bmb.3 - 2 507 c.387C>T c.(385-387)CTC>CTT p.L129L TYMP_uc003bmc.3_Silent_p.L129L|TYMP_uc003bmd.3_Silent_p.L129L|TYMP_uc010hbd.2_Silent_p.L129L|TYMP_uc003bme.3_Silent_p.L129L|TYMP_uc003bmf.3_Silent_p.L129L|TYMP_uc011arz.1_Silent_p.L129L NM_001113756 NP_001107228 P19971 TYPH_HUMAN endothelial cell growth factor 1 129 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity ovary(1) 1 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GGGCAGGTGCGAGGACCAGGC 0.622000 WNT7A 7476 broad.mit.edu 37 3 13860757 13860757 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:13860757C>T uc003bye.1 - 4 1039 c.734G>A c.(733-735)CGC>CAC p.R245H NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 245 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 CCGCTTGTTGCGGCTGGCACG 0.592000 KCNH8 131096 broad.mit.edu 37 3 19295169 19295169 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:19295169G>T uc003cbk.1 + 2 295 c.100G>T c.(100-102)GCC>TCC p.A34S KCNH8_uc011awe.1_Missense_Mutation_p.A34S|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 34 Cytoplasmic (Potential).|PAS. integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CCTTGCCAATGCCCAGGTGGC 0.428000 ACAD9 28976 broad.mit.edu 37 3 128598625 128598625 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:128598625C>T uc003ela.3 + 1 293 c.91C>T c.(91-93)CGC>TGC p.R31C ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 31 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 GCGGCTACTGCGCACCAGCCC 0.652000 PCCB 5096 broad.mit.edu 37 3 136035904 136035904 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:136035904C>T uc003eqy.1 + 10 1139 c.1088C>T c.(1087-1089)TCA>TTA p.S363L PCCB_uc003eqz.1_Missense_Mutation_p.S363L|PCCB_uc011bmc.1_Missense_Mutation_p.S383L|PCCB_uc011bmd.1_Missense_Mutation_p.S280L NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 363 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) AAGGTGGCCTCAGGTAGGATG 0.468000 ATR 545 broad.mit.edu 37 3 142275392 142275392 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:142275392C>T uc003eux.3 - 9 2033 c.1911G>A c.(1909-1911)GTG>GTA p.V637V NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 637 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCAGAAGAAACACACATCGTG 0.343000 Other_conserved_DNA_damage_response_genes PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:178916876G>A uc003fjk.2 + 2 420 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PCDH7 5099 broad.mit.edu 37 4 30724035 30724035 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr4:30724035C>T uc003gsk.1 + 1 1999 c.991C>T c.(991-993)CGC>TGC p.R331C PCDH7_uc011bxw.1_Missense_Mutation_p.R284C|PCDH7_uc011bxx.1_Missense_Mutation_p.R331C NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 331 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CCTGCAACTGCGCGCAGCCGA 0.662000 FAT4 79633 broad.mit.edu 37 4 126411905 126411905 + Missense_Mutation SNP G G A rs147961375 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr4:126411905G>A uc003ifj.3 + 17 13928 c.13928G>A c.(13927-13929)CGC>CAC p.R4643H FAT4_uc011cgp.1_Missense_Mutation_p.R2884H|FAT4_uc003ifi.1_Missense_Mutation_p.R2120H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4643 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AAGCAGTTCCGCAGCCACACA 0.517000 POU4F2 5458 broad.mit.edu 37 4 147561227 147561227 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr4:147561227C>T uc003ikv.2 + 2 745 c.497C>T c.(496-498)GCG>GTG p.A166V NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 166 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CACCCTTCCGCGTTGGCGGGC 0.537000 CTNND2 1501 broad.mit.edu 37 5 11111072 11111072 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr5:11111072C>T uc003jfa.1 - 14 2506 c.2361G>A c.(2359-2361)ACG>ACA p.T787T CTNND2_uc010itt.2_Silent_p.T696T|CTNND2_uc011cmy.1_Silent_p.T450T|CTNND2_uc011cmz.1_Silent_p.T354T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T354T NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 787 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCAGCTCGTCCGTGCCCATGT 0.547000 DMXL1 1657 broad.mit.edu 37 5 118470009 118470009 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr5:118470009A>G uc003ksd.2 + 13 2482 c.2301A>G c.(2299-2301)GGA>GGG p.G767G DMXL1_uc010jcl.1_Silent_p.G767G NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 767 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) CCAGTGATGGACAATATCTGA 0.333000 PCDHB9 56127 broad.mit.edu 37 5 140569054 140569054 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr5:140569054G>A uc003liw.1 + 3 2163 c.2163G>A c.(2161-2163)TCG>TCA p.S721S PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 721 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCTCGGTGGGTCGCT 0.662000 TRIM41 90933 broad.mit.edu 37 5 180661295 180661295 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr5:180661295C>T uc003mne.1 + 6 2107 c.1413C>T c.(1411-1413)GCC>GCT p.A471A TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.A471A|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_Silent_p.A51A NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 471 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTCTCGGCCGACTGCTGCG 0.741000 NOTCH4 4855 broad.mit.edu 37 6 32163554 32163554 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:32163554C>G uc003obb.2 - 30 5811 c.5672G>C c.(5671-5673)GGC>GCC p.G1891A GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.G551A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1891 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 ATAGGCCCCGCCCCCCCGCGC 0.711000 TULP1 7287 broad.mit.edu 37 6 35477060 35477060 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:35477060C>T uc003okv.3 - 8 760 c.748G>A c.(748-750)GAA>AAA p.E250K TULP1_uc003okw.3_Missense_Mutation_p.E197K NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 250 Poly-Glu. dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 TCCTCCTCTTCTTCCTCCTTC 0.498000 KIF6 221458 broad.mit.edu 37 6 39507959 39507959 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:39507959C>A uc003oot.2 - 13 1560 c.1465G>T c.(1465-1467)GCT>TCT p.A489S KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.A280S|KIF6_uc011dua.1_Missense_Mutation_p.A489S|KIF6_uc010jxb.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 489 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GCCTCCTGAGCTTTCTTCTTT 0.423000 GPR63 81491 broad.mit.edu 37 6 97246870 97246870 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:97246870A>G uc010kcl.2 - 3 1216 c.738T>C c.(736-738)ATT>ATC p.I246I GPR63_uc003pou.2_Silent_p.I246I NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 246 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AAATGAGAGAAATCAAAATCA 0.478000 HIVEP2 3097 broad.mit.edu 37 6 143074616 143074616 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:143074616C>T uc003qjd.2 - 10 7712 c.6969G>A c.(6967-6969)GAG>GAA p.E2323E NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 2323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTATATTTTCCTCCTGTTCCC 0.562000 PLEKHG1 57480 broad.mit.edu 37 6 151130381 151130381 + Silent SNP G G A rs148074221 TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr6:151130381G>A uc003qny.1 + 9 1365 c.1053G>A c.(1051-1053)ACG>ACA p.T351T PLEKHG1_uc011eel.1_Silent_p.T391T|PLEKHG1_uc011eem.1_Silent_p.T410T|PLEKHG1_uc003qnz.2_Silent_p.T351T NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 351 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TGCTCATCACGAAGAAGAGAG 0.557000 ANKIB1 54467 broad.mit.edu 37 7 92027051 92027051 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:92027051G>A uc003ulw.2 + 19 2786 c.2410G>A c.(2410-2412)GGC>AGC p.G804S ANKIB1_uc010lew.1_Missense_Mutation_p.G73S NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 804 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCCAGAAGGCGGCAGCAGCAG 0.468000 GNG11 2791 broad.mit.edu 37 7 93555472 93555472 + Nonsense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:93555472G>T uc003und.2 + 2 600 c.166G>T c.(166-168)GGA>TGA p.G56* NM_004126 NP_004117 P61952 GBG11_HUMAN guanine nucleotide binding protein gamma 11 56 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway heterotrimeric G-protein complex GTPase activity|signal transducer activity kidney(1) 1 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TCTAGTAAAGGGAATTCCAGA 0.338000 AGFG2 3268 broad.mit.edu 37 7 100159886 100159886 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:100159886C>A uc003uvf.2 + 7 1018 c.882C>A c.(880-882)AGC>AGA p.S294R AGFG2_uc010lgy.2_Missense_Mutation_p.A156E NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 294 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 GCCCAGGGAGCAGCCAGGGGA 0.637000 CBLL1 79872 broad.mit.edu 37 7 107399357 107399357 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:107399357C>T uc003veq.2 + 6 1540 c.1210C>T c.(1210-1212)CCA>TCA p.P404S CBLL1_uc011kme.1_Missense_Mutation_p.P283S|CBLL1_uc011kmf.1_Missense_Mutation_p.P403S NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 404 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 TCATCCTCCTCCAGGACCTCC 0.522000 LRRN3 54674 broad.mit.edu 37 7 110763825 110763825 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:110763825C>A uc003vft.3 + 4 2043 c.997C>A c.(997-999)CTC>ATC p.L333I IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L333I|LRRN3_uc003vfs.3_Missense_Mutation_p.L333I NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 333 Extracellular (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATTTTTCAGACTCCCCAAGCT 0.438000 PPP1R3A 5506 broad.mit.edu 37 7 113519400 113519400 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:113519400G>A uc010ljy.1 - 4 1778 c.1747C>T c.(1747-1749)CAT>TAT p.H583Y NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 583 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CTTGGTGAATGAGACACATCT 0.488000 FOXP2 93986 broad.mit.edu 37 7 114299684 114299684 + Missense_Mutation SNP A A C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:114299684A>C uc003vhb.2 + 13 1977 c.1603A>C c.(1603-1605)ACA>CCA p.T535P FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.T560P|FOXP2_uc003vha.2_Missense_Mutation_p.T443P|FOXP2_uc011kmu.1_Missense_Mutation_p.T552P|FOXP2_uc011kmv.1_Missense_Mutation_p.T534P|FOXP2_uc010ljz.1_Missense_Mutation_p.T350P|FOXP2_uc003vhe.1_Missense_Mutation_p.T105P NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 535 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 CAGCTGGTTTACACGGACATT 0.343000 OR2A14 135941 broad.mit.edu 37 7 143826573 143826573 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:143826573C>T uc011kua.1 + 1 368 c.368C>T c.(367-369)GCG>GTG p.A123V NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GATCGCTATGCGGACATCTGC 0.493000 OR2A1 346528 broad.mit.edu 37 7 144015510 144015510 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr7:144015510C>T uc011kud.1 + 1 275 c.275C>T c.(274-276)ACG>ATG p.T92M OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) GGCTGCATGACGCAGACCTTT 0.577000 FAM135B 51059 broad.mit.edu 37 8 139164616 139164616 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr8:139164616C>T uc003yuy.2 - 13 2273 c.2102G>A c.(2101-2103)CGA>CAA p.R701Q FAM135B_uc003yux.2_Missense_Mutation_p.R602Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R263Q|FAM135B_uc003yvb.2_Missense_Mutation_p.R263Q NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 701 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGCCCTGCTTCGGGCCTCTGA 0.552000 HNSCC(54;0.14) TSNARE1 203062 broad.mit.edu 37 8 143425589 143425589 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr8:143425589G>A uc003ywk.2 - 4 601 c.483C>T c.(481-483)TAC>TAT p.Y161Y TSNARE1_uc011lju.1_Silent_p.Y161Y|TSNARE1_uc003ywj.2_Silent_p.Y161Y|TSNARE1_uc003ywl.3_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 161 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCCACACGCGGTACCTGCGAG 0.662000 DBC1 1620 broad.mit.edu 37 9 122011382 122011382 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr9:122011382C>T uc004bkc.2 - 3 721 c.265G>A c.(265-267)GAT>AAT p.D89N DBC1_uc004bkd.2_Missense_Mutation_p.D89N NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 89 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CGGACCAGATCTCTCCTCTCG 0.542000 FIGF 2277 broad.mit.edu 37 X 15381403 15381403 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chrX:15381403C>A uc004cwt.1 - 2 638 c.129G>T c.(127-129)CAG>CAT p.Q43H NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 43 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) CAGCCCTGATCTGCTGTTCAG 0.378000 H2BFWT 158983 broad.mit.edu 37 X 103267818 103267818 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chrX:103267818G>A uc004elr.2 - 1 439 c.415C>T c.(415-417)CGG>TGG p.R139W NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 139 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 ACAGCCATCCGGGTCTCCCAG 0.642000 IL1RAPL2 26280 broad.mit.edu 37 X 105011214 105011214 + Missense_Mutation SNP A A T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chrX:105011214A>T uc004elz.1 + 11 2377 c.1621A>T c.(1621-1623)AGC>TGC p.S541C NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 541 Cytoplasmic (Potential).|TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GGGATCCAAAAGCAGCAAATT 0.408000 DCAF12L2 340578 broad.mit.edu 37 X 125298874 125298874 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chrX:125298874C>A uc004euk.1 - 1 1061 c.1034G>T c.(1033-1035)TGC>TTC p.C345F NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 345 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CTCTCGAGAGCACAGGGGCCG 0.617000 MAGEA12 4111 broad.mit.edu 37 X 151900231 151900231 + Silent SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chrX:151900231C>A uc010ntp.2 - 3 924 c.570G>T c.(568-570)CTG>CTT p.L190L MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.L190L|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 190 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GATTGTCGCCCAGCAGGCCAT 0.577000 SRRM1 10250 broad.mit.edu 37 1 24981344 24981346 + Splice_Site DEL AGA AGA - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:24981343_24981345CAGA>C uc001bjm.3 + 9 1265 c.1041_splice c.e9-1 p.R347_splice SRRM1_uc010oel.2_Splice_Site_p.R347_splice|SRRM1_uc009vrh.1_Splice_Site_p.R308_splice|SRRM1_uc009vri.1_Splice_Site_p.R264_splice|SRRM1_uc010oem.1_Splice_Site NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 347 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTTTATTCCACAGAAGAAGACGT 0.419 TM7SF3 51768 broad.mit.edu 37 12 27135767 27135767 + Frame_Shift_Del DEL G G - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr12:27135767delG uc010sjl.1 - 7 1132 c.894delC c.(892-894)TTCfs p.F298fs NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 298 Phe-rich.|Helical; (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) CAAAAAGAGTGAAGAACACTT 0.318 LOC646498 646498 broad.mit.edu 37 3 49215093 49215093 + Frame_Shift_Del DEL G G - rs140986532 by1000genomes TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr3:49215093delG uc011bcj.1 - 3 597 c.591delC c.(589-591)TCCfs p.S197fs NM_001080528 NP_001073997 hypothetical LOC646498 0 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247) TTAATGCTCTGGACCAGTTTA 0.562 SEMA6A 57556 broad.mit.edu 37 5 115831175 115831175 + Frame_Shift_Del DEL C C - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr5:115831175delC uc010jck.2 - 6 1087 c.378delG c.(376-378)AAGfs p.K126fs SEMA6A_uc003krx.3_Frame_Shift_Del_p.K126fs NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 126 Sema.|Extracellular (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CATCGTTTTTCTTTAGAAGAA 0.368 SRRM1 10250 broad.mit.edu 37 1 24981344 24981346 + Splice_Site DEL AGA AGA - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:24981343_24981345CAGA>C uc001bjm.3 + 9 1265 c.1041_splice c.e9-1 p.R347_splice SRRM1_uc010oel.2_Splice_Site_p.R347_splice|SRRM1_uc009vrh.1_Splice_Site_p.R308_splice|SRRM1_uc009vri.1_Splice_Site_p.R264_splice|SRRM1_uc010oem.1_Splice_Site NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 347 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTTTATTCCACAGAAGAAGACGT 0.419 ARID1A 8289 broad.mit.edu 37 1 27089494 27089494 + Frame_Shift_Del DEL C C - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 g.chr1:27089493_27089493GC>G uc001bmv.1 + 7 2822 c.2449_2449GC>G c.(2449-2451)gccfs p.A817fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A434fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 817 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 SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 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) AAACTATAATGCCTTGCCCAA 0.532 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC"""