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 TAS1R1 80835 broad.mit.edu 37 1 6631130 6631130 + Missense_Mutation SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:6631130T>C uc001ant.2 + 2 353 c.353T>C c.(352-354)GTG>GCG p.V118A TAS1R1_uc001anu.2_Missense_Mutation_p.V118A|TAS1R1_uc001anv.2_Missense_Mutation_p.V118A|TAS1R1_uc001anw.2_Missense_Mutation_p.V118A NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 118 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ACGCTGAGAGTGCTCTCCCTG 0.562000 OPRD1 4985 broad.mit.edu 37 1 29185501 29185501 + Missense_Mutation SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:29185501T>C uc001brf.1 + 2 505 c.263T>C c.(262-264)ATC>ACC p.I88T NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 88 Helical; Name=2; (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) AACATCTACATCTTCAACCTG 0.408000 EIF2C3 192669 broad.mit.edu 37 1 36520681 36520681 + Silent SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:36520681A>C uc001bzp.2 + 18 2665 c.2409A>C c.(2407-2409)CCA>CCC p.P803P EIF2C3_uc001bzq.2_Silent_p.P569P NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 803 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TACCTGCACCAGCGTATTATG 0.433000 DMRTB1 63948 broad.mit.edu 37 1 53925618 53925618 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:53925618G>A uc001cvq.1 + 1 547 c.492G>A c.(490-492)GCG>GCA p.A164A NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 164 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CTTTTGGGGCGGAGGCCGCAG 0.716000 DCST2 127579 broad.mit.edu 37 1 155002981 155002981 + Missense_Mutation SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:155002981G>T uc001fgm.2 - 6 1026 c.946C>A c.(946-948)CTG>ATG p.L316M DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 316 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACACGGTGCAGCTTCATGCTG 0.622000 WDR26 80232 broad.mit.edu 37 1 224606064 224606064 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:224606064C>T uc001hop.3 - 6 842 c.476G>A c.(475-477)CGG>CAG p.R159Q WDR26_uc001hoq.3_Missense_Mutation_p.R143Q|WDR26_uc009xei.1_Missense_Mutation_p.R143Q NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 306 cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) CACCGCCTGCCGCAGGAGAGT 0.388000 AGT 183 broad.mit.edu 37 1 230839016 230839016 + Silent SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:230839016G>T uc001hty.3 - 5 1837 c.1329C>A c.(1327-1329)ACC>ACA p.T443T AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Silent_p.T415T NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 443 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) TAAGCTGTTGGGTAGACTCTG 0.532000 MYO3A 53904 broad.mit.edu 37 10 26457674 26457674 + Missense_Mutation SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:26457674A>C uc001isn.2 + 28 3505 c.3145A>C c.(3145-3147)AAT>CAT p.N1049H MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1049 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GGAGCAGTTAAATCTAATGCG 0.353000 SLC18A3 6572 broad.mit.edu 37 10 50819913 50819913 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:50819913C>T uc001jhw.2 + 1 1567 c.1127C>T c.(1126-1128)GCC>GTC p.A376V CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 376 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 ATCGTGCCCGCCTGCCGCTCC 0.672000 ZWINT 11130 broad.mit.edu 37 10 58119237 58119237 + Missense_Mutation SNP C C G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:58119237C>G uc001jjx.1 - 5 517 c.480G>C c.(478-480)CAG>CAC p.Q160H ZWINT_uc001jjy.1_Missense_Mutation_p.Q160H|ZWINT_uc001jka.1_Missense_Mutation_p.Q160H|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 160 Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 ACGAACCTACCTGTTGTAGCT 0.488000 ZWINT 11130 broad.mit.edu 37 10 58119261 58119261 + Silent SNP G G C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:58119261G>C uc001jjx.1 - 5 493 c.456C>G c.(454-456)GTC>GTG p.V152V ZWINT_uc001jjy.1_Silent_p.V152V|ZWINT_uc001jka.1_Silent_p.V152V|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 152 Interaction with NDC80 and ZW10.|Potential. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 ACTGGTTCTGGACTGCTCTGC 0.478000 KCNK18 338567 broad.mit.edu 37 10 118969314 118969314 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:118969314G>A uc010qsr.1 + 3 659 c.659G>A c.(658-660)CGC>CAC p.R220H NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 220 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) TGTCCTTCACGCCCAAGCTGC 0.532000 EIF3A 8661 broad.mit.edu 37 10 120802173 120802173 + Silent SNP G G A rs148664870 byFrequency TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr10:120802173G>A uc001ldu.2 - 19 3005 c.2859C>T c.(2857-2859)GAC>GAT p.D953D EIF3A_uc010qsu.1_Silent_p.D919D|EIF3A_uc009xzg.1_Translation_Start_Site NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 953 4.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCCGATCATCGTCTGGTCTAA 0.587000 OR56B1 387748 broad.mit.edu 37 11 5758675 5758675 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:5758675C>T uc001mbt.1 + 1 929 c.929C>T c.(928-930)GCC>GTC p.A310V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CTTAGGGCAGCCTTCCAAAAG 0.423000 MRGPRX4 117196 broad.mit.edu 37 11 18194815 18194815 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:18194815C>T uc001mnv.1 + 1 432 c.12C>T c.(10-12)ACC>ACT p.T4T NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 4 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TGGATCCAACCGTCCCAGTCT 0.438000 OR8H3 390152 broad.mit.edu 37 11 55890770 55890770 + Silent SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:55890770A>C uc001nii.1 + 1 922 c.922A>C c.(922-924)AGA>CGA p.R308R NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CATGCAGAGAAGACAGGACTC 0.338000 OR8J1 219477 broad.mit.edu 37 11 56128326 56128326 + Missense_Mutation SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:56128326T>C uc010rjh.1 + 1 604 c.604T>C c.(604-606)TCT>CCT p.S202P NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TGTCTTTATATCTGCAGCAAC 0.299000 C11orf10 746 broad.mit.edu 37 11 61557967 61557967 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:61557967G>A uc001nsf.2 - 2 166 c.111C>T c.(109-111)TTC>TTT p.F37F FEN1_uc001nsg.2_5'Flank NM_014206 NP_055021 P61165 CK010_HUMAN hypothetical protein LOC746 37 Helical; (Potential). integral to membrane breast(1) 1 AAGGATACACGAAGAACCAGG 0.542000 SLC22A10 387775 broad.mit.edu 37 11 63066406 63066406 + Missense_Mutation SNP C C G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:63066406C>G uc009yor.2 + 5 1053 c.845C>G c.(844-846)TCT>TGT p.S282C SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.S122C NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 282 Extracellular (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CTGGTGGAATCTGCTCGGTGG 0.398000 CABP4 57010 broad.mit.edu 37 11 67225880 67225880 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:67225880G>A uc001olo.2 + 5 767 c.690G>A c.(688-690)GAG>GAA p.E230E CABP4_uc001oln.2_Silent_p.E125E NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 230 EF-hand 3.|2 (Potential). visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CGGTGGCGGAGCTGCGGGAGG 0.647000 AQP11 282679 broad.mit.edu 37 11 77314623 77314623 + Silent SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:77314623A>C uc001oyj.2 + 2 1000 c.642A>C c.(640-642)GTA>GTC p.V214V AQP11_uc009yuu.2_RNA NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 214 Helical; Name=5; (Potential). cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CAGGAGCTGTATTTAATCCAG 0.363000 GPRC5A 9052 broad.mit.edu 37 12 13061831 13061831 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr12:13061831G>A uc001rba.2 + 2 1298 c.648G>A c.(646-648)ACG>ACA p.T216T GPRC5A_uc001raz.2_Silent_p.T216T NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 216 Helical; Name=6; (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TCTACCTCACGATGCTCCTCT 0.577000 CAPRIN2 65981 broad.mit.edu 37 12 30872159 30872159 + Missense_Mutation SNP C C A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr12:30872159C>A uc001rji.1 - 13 2900 c.2149G>T c.(2149-2151)GCA>TCA p.A717S CAPRIN2_uc001rjf.1_Missense_Mutation_p.A514S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.A384S|CAPRIN2_uc001rjh.1_Intron|CAPRIN2_uc001rjj.1_Missense_Mutation_p.A384S|CAPRIN2_uc001rjk.3_Missense_Mutation_p.A717S|CAPRIN2_uc001rjl.3_Missense_Mutation_p.A682S|CAPRIN2_uc001rjm.1_Missense_Mutation_p.A349S NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 717 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGAATTGCTGCCTGGGGAGGA 0.498000 SHMT2 6472 broad.mit.edu 37 12 57628067 57628067 + Nonsense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr12:57628067C>T uc001snf.1 + 12 1448 c.1438C>T c.(1438-1440)CAG>TAG p.Q480* SHMT2_uc001sng.1_Nonsense_Mutation_p.Q376*|SHMT2_uc001snh.1_Nonsense_Mutation_p.Q319*|SHMT2_uc009zpk.1_Nonsense_Mutation_p.Q470*|SHMT2_uc001sni.1_Nonsense_Mutation_p.Q459*|SHMT2_uc010srg.1_Nonsense_Mutation_p.Q489*|SHMT2_uc001snj.1_Nonsense_Mutation_p.Q384*|SHMT2_uc010srh.1_Nonsense_Mutation_p.Q459*|SHMT2_uc001snk.1_Nonsense_Mutation_p.Q384*|SHMT2_uc010sri.1_Nonsense_Mutation_p.Q459*|SHMT2_uc001snl.2_Nonsense_Mutation_p.Q384*|SHMT2_uc010srj.1_Nonsense_Mutation_p.Q135* NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 480 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGAAACAAGTCAGCGTCTGGC 0.542000 UTP20 27340 broad.mit.edu 37 12 101759386 101759386 + Silent SNP G G C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr12:101759386G>C uc001tia.1 + 46 6264 c.6108G>C c.(6106-6108)CTG>CTC p.L2036L NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2036 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ATCTTCCCCTGTTAACAGAGA 0.353000 ALOX5AP 241 broad.mit.edu 37 13 31338224 31338224 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr13:31338224C>T uc001utf.1 + 5 541 c.467C>T c.(466-468)CCT>CTT p.P156L ALOX5AP_uc010tdr.1_Missense_Mutation_p.P213L NM_001629 NP_001620 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 156 Lumenal. cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding 0 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) ACCATCTCCCCTCTACTTCTC 0.413000 HSPA2 3306 broad.mit.edu 37 14 65009426 65009426 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr14:65009426G>A uc001xhj.2 + 2 1935 c.1859G>A c.(1858-1860)GGC>GAC p.G620D HSPA2_uc001xhk.3_Missense_Mutation_p.G620D NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 620 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GGTCCTggcggcggcagcggc 0.433000 HEATR4 399671 broad.mit.edu 37 14 73989212 73989212 + Silent SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr14:73989212G>T uc010tub.1 - 3 967 c.645C>A c.(643-645)GCC>GCA p.A215A HEATR4_uc010tua.1_Silent_p.A168A NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) GGATCCATCGGGCTGTGCGCT 0.602000 AHNAK2 113146 broad.mit.edu 37 14 105418917 105418917 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr14:105418917G>A uc010axc.1 - 7 2991 c.2871C>T c.(2869-2871)GGC>GGT p.G957G AHNAK2_uc001ypx.2_Silent_p.G857G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 957 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGACACCTCGCCATCGGGGG 0.632000 PIAS1 8554 broad.mit.edu 37 15 68445992 68445992 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr15:68445992G>A uc002aqz.2 + 7 989 c.893G>A c.(892-894)CGA>CAA p.R298Q PIAS1_uc010ujx.1_Missense_Mutation_p.R298Q NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 298 androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 CAGAGGTTACGAGCAAAGGGA 0.328000 PTX4 390667 broad.mit.edu 37 16 1538406 1538406 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr16:1538406G>A uc010uvf.1 - 1 63 c.63C>T c.(61-63)CCC>CCT p.P21P NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like Error:Variant_position_missing_in_Q96A99_after_alignment extracellular region metal ion binding 0 GTGGGAGTCCGGGAGGCCGTT 0.657000 NAT15 79903 broad.mit.edu 37 16 3534809 3534809 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr16:3534809C>T uc002cvh.3 + 7 929 c.683C>T c.(682-684)TCG>TTG p.S228L NAT15_uc010btl.2_5'UTR|NAT15_uc010btm.2_Missense_Mutation_p.S228L|NAT15_uc010uxc.1_Missense_Mutation_p.S228L|NAT15_uc010uxd.1_RNA|NAT15_uc010uxe.1_RNA NM_001083601 NP_001077070 Q9H7X0 NAT15_HUMAN N-acetyltransferase 15 228 N-acetyltransferase activity 0 CTGCCATGGTCGGGCATCTCT 0.672000 ABAT 18 broad.mit.edu 37 16 8858686 8858686 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr16:8858686G>A uc002czc.3 + 8 705 c.539G>A c.(538-540)CGG>CAG p.R180Q ABAT_uc002czd.3_Missense_Mutation_p.R180Q|ABAT_uc010buh.2_Missense_Mutation_p.R122Q|ABAT_uc010bui.2_Missense_Mutation_p.R180Q NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 180 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ATGTGGTACCGGGTGAGGTTT 0.522000 KIAA0182 23199 broad.mit.edu 37 16 85695249 85695249 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr16:85695249G>A uc002fix.2 + 9 2212 c.2138G>A c.(2137-2139)CGG>CAG p.R713Q KIAA0182_uc002fiw.2_Missense_Mutation_p.R609Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R640Q|KIAA0182_uc002fiz.2_5'Flank|KIAA0182_uc010cho.2_5'Flank NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 713 Pro-rich. protein binding large_intestine(3)|ovary(1)|skin(1) 5 TCGCCCTACCGGCCCCCAGTG 0.697000 ZCCHC14 23174 broad.mit.edu 37 16 87525317 87525317 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr16:87525317G>A uc002fjz.1 - 1 144 c.117C>T c.(115-117)CCC>CCT p.P39P ZCCHC14_uc002fka.1_RNA|uc002fkc.1_5'Flank NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 39 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) cgcccggcccgggcgcgccct 0.488000 NEURL4 84461 broad.mit.edu 37 17 7224449 7224449 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr17:7224449G>A uc002gga.1 - 20 3349 c.3342C>T c.(3340-3342)GGC>GGT p.G1114G NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Silent_p.G1112G NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1114 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CATGCTCCTCGCCCTCGTCAT 0.602000 SYNGR2 9144 broad.mit.edu 37 17 76167103 76167103 + Missense_Mutation SNP A A T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr17:76167103A>T uc002juu.1 + 2 332 c.305A>T c.(304-306)AAG>ATG p.K102M SYNGR2_uc002jut.2_Missense_Mutation_p.K102M|SYNGR2_uc002juv.1_Missense_Mutation_p.K102M|SYNGR2_uc010dhi.1_Intron NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 102 MARVEL. integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) ACTGACCGCAAGTACCTGGTC 0.587000 DNAH17 8632 broad.mit.edu 37 17 76422673 76422673 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr17:76422673C>T uc010dhp.1 - 24 4002 c.3780G>A c.(3778-3780)CTG>CTA p.L1260L DNAH17_uc002jvq.2_Silent_p.L545L|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCGTGATGGTCAGTTCTCCCT 0.612000 LAMA1 284217 broad.mit.edu 37 18 7037694 7037694 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr18:7037694C>T uc002knm.2 - 12 1714 c.1620G>A c.(1618-1620)CCG>CCA p.P540P LAMA1_uc010wzj.1_Silent_p.P16P NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 540 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTGCTGAGACGGGATCTTCC 0.507000 SLC14A2 8170 broad.mit.edu 37 18 43248324 43248324 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr18:43248324G>A uc010dnj.2 + 16 2239 c.1918G>A c.(1918-1920)GCT>ACT p.A640T SLC14A2_uc002lbe.2_Missense_Mutation_p.A640T NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 640 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GTCGGCCATCGCTGCAGGATT 0.567000 ZNF560 147741 broad.mit.edu 37 19 9577900 9577900 + Missense_Mutation SNP T T G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:9577900T>G uc002mlp.1 - 10 1933 c.1723A>C c.(1723-1725)ATG>CTG p.M575L ZNF560_uc010dwr.1_Missense_Mutation_p.M469L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 575 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CCACATTTCATACATTCATAG 0.393000 BRD4 23476 broad.mit.edu 37 19 15353741 15353741 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:15353741G>A uc002nar.2 - 14 3361 c.3139C>T c.(3139-3141)CGG>TGG p.R1047W NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 1047 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TTGTGGTGCCGGGGTGAATGG 0.657000 T NUT|C15orf55 lethal midline carcinoma of young people IFI30 10437 broad.mit.edu 37 19 18285919 18285919 + Missense_Mutation SNP T T A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:18285919T>A uc002nic.1 + 2 275 c.202T>A c.(202-204)TAT>AAT p.Y68N PIK3R2_uc002nib.1_RNA NM_006332 NP_006323 P13284 GILT_HUMAN interferon, gamma-inducible protein 30 68 antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway cell junction|extracellular region|lysosome oxidoreductase activity, acting on a sulfur group of donors 0 GACCCTCTACTATGAAGCACT 0.572000 PDE4C 5143 broad.mit.edu 37 19 18329839 18329839 + Missense_Mutation SNP C C A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:18329839C>A uc010xqc.1 - 9 1456 c.976G>T c.(976-978)GAC>TAC p.D326Y PDE4C_uc002nik.3_Missense_Mutation_p.D326Y|PDE4C_uc002nil.3_Missense_Mutation_p.D326Y|PDE4C_uc002nif.3_Missense_Mutation_p.D95Y|PDE4C_uc002nig.3_Missense_Mutation_p.D96Y|PDE4C_uc002nih.3_Missense_Mutation_p.D96Y|PDE4C_uc010ebk.2_Missense_Mutation_p.D220Y|PDE4C_uc002nii.3_Missense_Mutation_p.D294Y|PDE4C_uc010ebl.2_Missense_Mutation_p.D40Y|PDE4C_uc010xqd.1_Missense_Mutation_p.D95Y NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 326 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) TTGTTGGTGTCTTCTAGCTCC 0.517000 KLC3 147700 broad.mit.edu 37 19 45852836 45852836 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:45852836C>T uc002pbf.1 + 8 1234 c.1119C>T c.(1117-1119)AAC>AAT p.N373N KLC3_uc010ejy.1_Silent_p.N372N|KLC3_uc002pbg.1_Silent_p.N387N NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 373 cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ATGACCCCAACGTGGCCAAGA 0.642000 CD33 945 broad.mit.edu 37 19 51742771 51742771 + Splice_Site SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr19:51742771A>C uc002pwa.2 + 7 965 c.925_splice c.e7-2 p.K309_splice CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Splice_Site_p.K182_splice|CD33_uc010eou.1_RNA NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCTCTCCATAAGAAACACCAG 0.502000 KIF3C 3797 broad.mit.edu 37 2 26203307 26203307 + Missense_Mutation SNP C C G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:26203307C>G uc002rgu.2 - 1 2137 c.1480G>C c.(1480-1482)GAG>CAG p.E494Q KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E494Q NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 494 Potential. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCATCTTCTCCTTCTCCTCC 0.622000 HEATR5B 54497 broad.mit.edu 37 2 37296009 37296009 + Missense_Mutation SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:37296009A>C uc002rpp.1 - 8 1088 c.992T>G c.(991-993)CTG>CGG p.L331R NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 331 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TACATGGGACAGGAACGTGGC 0.473000 TMEM178 130733 broad.mit.edu 37 2 39893487 39893487 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:39893487C>T uc002rrt.2 + 1 398 c.373C>T c.(373-375)CGG>TGG p.R125W TMEM178_uc010fam.1_Missense_Mutation_p.R125W NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 125 Extracellular (Potential). integral to membrane 0 all_hematologic(82;0.248) GGGCATCGACCGGGACATCGA 0.443000 PNPT1 87178 broad.mit.edu 37 2 55872550 55872550 + Silent SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:55872550A>G uc002rzf.2 - 22 1809 c.1756T>C c.(1756-1758)TTA>CTA p.L586L PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 586 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATGATCTGTAATATCTCCTTT 0.279000 RETSAT 54884 broad.mit.edu 37 2 85576544 85576544 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:85576544C>T uc002spd.2 - 5 1151 c.960G>A c.(958-960)GTG>GTA p.V320V RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Silent_p.V259V|RETSAT_uc010fgf.2_Silent_p.V111V NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 320 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) ACACACTCTGCACAGTGGCCT 0.622000 SCN9A 6335 broad.mit.edu 37 2 167134663 167134663 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:167134663C>T uc010fpl.2 - 15 2812 c.2471G>A c.(2470-2472)CGA>CAA p.R824Q uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 835 II.|Helical; Voltage-sensor; Name=S4 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTGAATGATCGCAGAACTGA 0.338000 ICA1L 130026 broad.mit.edu 37 2 203680659 203680659 + Missense_Mutation SNP T T G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:203680659T>G uc002uzh.1 - 8 922 c.758A>C c.(757-759)CAT>CCT p.H253P ICA1L_uc002uzi.1_Missense_Mutation_p.H253P NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 253 0 ATCATACGGATGAAAGCCAAT 0.363000 KIF1A 547 broad.mit.edu 37 2 241686695 241686695 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr2:241686695C>T uc002vzy.2 - 27 2864 c.2718G>A c.(2716-2718)TCG>TCA p.S906S KIF1A_uc010fzk.2_Silent_p.S1007S|KIF1A_uc002vzz.1_Silent_p.S1007S NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 906 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TAGCAGTTCCCGACTGGCGGA 0.572000 FASTKD5 60493 broad.mit.edu 37 20 3129655 3129655 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr20:3129655G>A uc002whz.2 - 2 373 c.62C>T c.(61-63)GCC>GTC p.A21V uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 21 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 TGCACCAAAGGCAGAAGGACT 0.473000 PTPRT 11122 broad.mit.edu 37 20 40710603 40710603 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr20:40710603C>T uc002xkg.2 - 30 4375 c.4191G>A c.(4189-4191)ATG>ATA p.M1397I PTPRT_uc010ggj.2_Missense_Mutation_p.M1416I|PTPRT_uc010ggi.2_Missense_Mutation_p.M600I NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1397 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTGCTGGATCATCTCACACA 0.498000 RAB36 9609 broad.mit.edu 37 22 23503113 23503113 + Missense_Mutation SNP G G A rs145390018 TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr22:23503113G>A uc002zwv.1 + 10 905 c.865G>A c.(865-867)GAG>AAG p.E289K RAB36_uc010gtw.1_Missense_Mutation_p.E267K NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 289 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) CCTGGCATTCGAGCAGTCGGT 0.607000 SELO 83642 broad.mit.edu 37 22 50647001 50647001 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr22:50647001G>A uc011arr.1 + 3 853 c.795G>A c.(793-795)GAG>GAA p.E265E SELO_uc010hap.2_Silent_p.E76E|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank NM_031454 NP_113642 Q9BVL4 SELO_HUMAN selenoprotein O 265 0 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CTGCAGATGAGCACACAGGGC 0.552000 FGD5 152273 broad.mit.edu 37 3 14861698 14861698 + Missense_Mutation SNP T T G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:14861698T>G uc003bzc.2 + 1 1230 c.1120T>G c.(1120-1122)TCA>GCA p.S374A FGD5_uc011avk.1_Missense_Mutation_p.S374A NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 374 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 AGGTTTAGAATCAGAGCAGGC 0.577000 CDC25A 993 broad.mit.edu 37 3 48224509 48224509 + Missense_Mutation SNP C C G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:48224509C>G uc003csh.1 - 5 703 c.339G>C c.(337-339)TTG>TTC p.L113F CDC25A_uc003csi.1_Missense_Mutation_p.L113F NM_001789 NP_001780 P30304 MPIP1_HUMAN cell division cycle 25A isoform a 113 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|kidney(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GACTACATCCCAACAGCTTCT 0.388000 UBA7 7318 broad.mit.edu 37 3 49847484 49847484 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:49847484G>A uc003cxr.2 - 14 1937 c.1766C>T c.(1765-1767)GCA>GTA p.A589V NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 589 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTCAGAAGCTGCAGCTGAGGC 0.617000 IGSF11 152404 broad.mit.edu 37 3 118621614 118621614 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:118621614C>T uc003ebw.2 - 7 1296 c.1049G>A c.(1048-1050)GGC>GAC p.G350D IGSF11_uc011biv.1_Missense_Mutation_p.G322D|IGSF11_uc003ebx.2_Missense_Mutation_p.G326D|IGSF11_uc003eby.2_Missense_Mutation_p.G349D|IGSF11_uc003ebz.2_Missense_Mutation_p.G325D|IGSF11_uc010hqs.2_Missense_Mutation_p.G349D NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 350 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GTTGGCATTGCCTGAGTGGAA 0.473000 IFT122 55764 broad.mit.edu 37 3 129221675 129221675 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:129221675G>A uc003emm.2 + 20 2703 c.2497G>A c.(2497-2499)GAC>AAC p.D833N IFT122_uc003eml.2_Missense_Mutation_p.D884N|IFT122_uc003emn.2_Missense_Mutation_p.D774N|IFT122_uc003emo.2_Missense_Mutation_p.D722N|IFT122_uc003emp.2_Missense_Mutation_p.D683N|IFT122_uc010htc.2_Missense_Mutation_p.D825N|IFT122_uc011bky.1_Missense_Mutation_p.D624N|IFT122_uc003emq.2_Missense_Mutation_p.D673N|IFT122_uc003emr.2_Missense_Mutation_p.D585N|IFT122_uc011bla.1_Missense_Mutation_p.D606N|IFT122_uc010hte.2_Missense_Mutation_p.D159N|IFT122_uc003ems.2_Missense_Mutation_p.D214N|IFT122_uc011bkx.1_Missense_Mutation_p.D673N|IFT122_uc010htd.1_Missense_Mutation_p.D312N NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 833 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 GAAGATGGGTGACCTCAAGTC 0.637000 RTP1 132112 broad.mit.edu 37 3 186917605 186917605 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr3:186917605G>A uc003frg.2 + 2 569 c.539G>A c.(538-540)CGC>CAC p.R180H NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 180 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GTGGCCAGCCGCCAGGACAAC 0.682000 RGS12 6002 broad.mit.edu 37 4 3432142 3432142 + Nonsense_Mutation SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:3432142G>T uc003ggw.2 + 17 4478 c.3574G>T c.(3574-3576)GAG>TAG p.E1192* RGS12_uc003ggv.2_Nonsense_Mutation_p.E1192*|RGS12_uc003ggy.1_Missense_Mutation_p.L538F|RGS12_uc003ggz.2_Nonsense_Mutation_p.E544*|RGS12_uc011bvs.1_Missense_Mutation_p.L482F|RGS12_uc003gha.2_Nonsense_Mutation_p.E534*|RGS12_uc010icv.2_Nonsense_Mutation_p.E391* NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1192 GoLoco. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGAGTTTTTTGAGCTTATTTC 0.468000 ANK2 287 broad.mit.edu 37 4 114223992 114223992 + Nonsense_Mutation SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:114223992G>T uc003ibe.3 + 23 2645 c.2545G>T c.(2545-2547)GAG>TAG p.E849* ANK2_uc003ibd.3_Nonsense_Mutation_p.E828*|ANK2_uc003ibf.3_Nonsense_Mutation_p.E849*|ANK2_uc011cgc.1_Nonsense_Mutation_p.E58*|ANK2_uc003ibc.2_Nonsense_Mutation_p.E825*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E864* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 849 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCTGATGAAGAGGGTAAGAC 0.363000 FABP2 2169 broad.mit.edu 37 4 120241826 120241826 + Missense_Mutation SNP C C A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:120241826C>A uc003icw.2 - 2 298 c.239G>T c.(238-240)AGG>ATG p.R80M NM_000134 NP_000125 P12104 FABPI_HUMAN intestinal fatty acid binding protein 2 80 fatty acid binding ovary(1) 1 AATTCTTACCCTGAGTTCAGT 0.313000 PCDH10 57575 broad.mit.edu 37 4 134073167 134073167 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:134073167C>T uc003iha.2 + 1 2698 c.1872C>T c.(1870-1872)AAC>AAT p.N624N uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.N624N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 624 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGCGTGGCAACGAAATGAACC 0.692000 ADAM29 11086 broad.mit.edu 37 4 175897990 175897990 + Silent SNP T T G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:175897990T>G uc003iuc.2 + 5 1984 c.1314T>G c.(1312-1314)GCT>GCG p.A438A ADAM29_uc003iud.2_Silent_p.A438A|ADAM29_uc010irr.2_Silent_p.A438A|ADAM29_uc011cki.1_Silent_p.A438A NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 438 Disintegrin.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTACTTGTGCTTTTGGGCTTT 0.438000 ASB5 140458 broad.mit.edu 37 4 177146474 177146474 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:177146474G>A uc003iuq.1 - 2 231 c.215C>T c.(214-216)TCA>TTA p.S72L ASB5_uc003iup.1_Missense_Mutation_p.S19L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 72 ANK 1. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATGTAGTGGTGATCGATCTGC 0.338000 ADAMTS16 170690 broad.mit.edu 37 5 5235251 5235251 + Nonsense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:5235251C>T uc003jdl.2 + 13 2113 c.1975C>T c.(1975-1977)CGA>TGA p.R659* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R659*|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 659 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAACAGCAGACGATTCAGAGG 0.507000 TAS2R1 50834 broad.mit.edu 37 5 9629277 9629277 + Nonsense_Mutation SNP T T A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:9629277T>A uc003jem.1 - 1 1187 c.868A>T c.(868-870)AAG>TAG p.K290* NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 290 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 AGGAGGAACTTTTTTGCATTT 0.398000 CTNND2 1501 broad.mit.edu 37 5 11346621 11346621 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:11346621G>A uc003jfa.1 - 9 1636 c.1491C>T c.(1489-1491)TCC>TCT p.S497S CTNND2_uc010itt.2_Silent_p.S406S|CTNND2_uc011cmy.1_Silent_p.S160S|CTNND2_uc011cmz.1_Silent_p.S64S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.S64S NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 497 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 CCGCGTAATTGGAGGCTGGGC 0.652000 DNAH5 1767 broad.mit.edu 37 5 13716678 13716678 + Missense_Mutation SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:13716678A>G uc003jfd.2 - 74 12869 c.12827T>C c.(12826-12828)ATG>ACG p.M4276T DNAH5_uc003jfc.2_Missense_Mutation_p.M444T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4276 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGGTCCAAACATATTTTCACT 0.373000 Kartagener_syndrome C5orf42 65250 broad.mit.edu 37 5 37169353 37169353 + Missense_Mutation SNP C C A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:37169353C>A uc011cpa.1 - 34 7004 c.6773G>T c.(6772-6774)AGA>ATA p.R2258I C5orf42_uc011coy.1_Missense_Mutation_p.R758I|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R1333I|C5orf42_uc003jkr.1_Missense_Mutation_p.R291I NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2258 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CCAAGCCTCTCTTGGTTGTGG 0.443000 IQGAP2 10788 broad.mit.edu 37 5 75967731 75967731 + Silent SNP G G A rs144328533 byFrequency TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:75967731G>A uc003kek.2 + 24 3213 c.2991G>A c.(2989-2991)TCG>TCA p.S997S IQGAP2_uc010izv.2_Silent_p.S550S|IQGAP2_uc011csv.1_Silent_p.S493S|IQGAP2_uc003kel.2_Silent_p.S493S|IQGAP2_uc010izw.1_5'Flank NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 997 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACGACAAGTCGCTGATTATCA 0.502000 ATP6AP1L 92270 broad.mit.edu 37 5 81613993 81613993 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:81613993C>T uc003khv.2 + 10 1874 c.549C>T c.(547-549)ATC>ATT p.I183I ATP6AP1L_uc003khw.2_Silent_p.I183I NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 183 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 ATGATCTCATCGCCTCTCCTG 0.557000 PCDHB4 56131 broad.mit.edu 37 5 140502259 140502259 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:140502259G>A uc003lip.1 + 1 679 c.679G>A c.(679-681)GTT>ATT p.V227I NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 227 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACGGTCATGGTTCGAATCCT 0.547000 PCDHGA4 56111 broad.mit.edu 37 5 140736094 140736094 + Missense_Mutation SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:140736094A>G uc003ljq.1 + 1 1327 c.1327A>G c.(1327-1329)ATG>GTG p.M443V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.M443V NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 443 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGCAAGTGATGGACATCAA 0.463000 SCGN 10590 broad.mit.edu 37 6 25670264 25670264 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:25670264C>T uc003nfb.2 + 6 634 c.431C>T c.(430-432)GCC>GTC p.A144V SCGN_uc010jpz.2_Missense_Mutation_p.P54S NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 144 extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 CACAAAAAGGCCATTTCTGAG 0.313000 VPS52 6293 broad.mit.edu 37 6 33231791 33231791 + Silent SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:33231791C>T uc003odm.1 - 15 1824 c.1614G>A c.(1612-1614)CAG>CAA p.Q538Q VPS52_uc003odn.1_Silent_p.Q349Q NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 538 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 TCACCTGCAGCTGTCCCAGCA 0.567000 DST 667 broad.mit.edu 37 6 56716385 56716385 + Silent SNP G G C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:56716385G>C uc003pdf.2 - 4 463 c.435C>G c.(433-435)TCC>TCG p.S145S DST_uc011dxj.1_5'UTR|DST_uc011dxk.1_Silent_p.S7S|DST_uc011dxl.1_5'UTR NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCAGCGATAGGACGCGTTCC 0.483000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PHACTR2 9749 broad.mit.edu 37 6 144075049 144075049 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:144075049G>A uc003qjq.3 + 4 551 c.421G>A c.(421-423)GAG>AAG p.E141K PHACTR2_uc010khh.2_Missense_Mutation_p.A141T|PHACTR2_uc010khi.2_Missense_Mutation_p.E152K|PHACTR2_uc003qjr.3_Missense_Mutation_p.A152T NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 141 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) AGATAAGAAAGGTAAAATAAA 0.393000 SYNE1 23345 broad.mit.edu 37 6 152725384 152725384 + Silent SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:152725384T>C uc010kiw.2 - 46 7391 c.6789A>G c.(6787-6789)GAA>GAG p.E2263E SYNE1_uc003qot.3_Silent_p.E2270E|SYNE1_uc003qou.3_Silent_p.E2263E|SYNE1_uc010kjb.1_Silent_p.E2246E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2263 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTTAGTTAATTCTTTCAGAT 0.328000 HNSCC(10;0.0054) TIAM2 26230 broad.mit.edu 37 6 155504497 155504497 + Missense_Mutation SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr6:155504497A>G uc003qqb.2 + 16 4200 c.2927A>G c.(2926-2928)GAC>GGC p.D976G TIAM2_uc003qqe.2_Missense_Mutation_p.D976G|TIAM2_uc010kjj.2_Missense_Mutation_p.D509G|TIAM2_uc003qqf.2_Missense_Mutation_p.D352G|TIAM2_uc011efl.1_Missense_Mutation_p.D312G|TIAM2_uc003qqg.2_Missense_Mutation_p.D288G NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 976 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CGGCCTCCGGACACAAAAGCA 0.547000 DGKB 1607 broad.mit.edu 37 7 14613993 14613993 + Silent SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr7:14613993G>A uc003ssz.2 - 19 1804 c.1617C>T c.(1615-1617)TAC>TAT p.Y539Y DGKB_uc011jxt.1_Silent_p.Y520Y|DGKB_uc003sta.2_Silent_p.Y539Y|DGKB_uc011jxu.1_Silent_p.Y538Y NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 539 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TCTCACCTTCGTAACCTAGTG 0.323000 LHFPL3 375612 broad.mit.edu 37 7 104377349 104377349 + Nonsense_Mutation SNP G G T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr7:104377349G>T uc003vce.2 + 2 797 c.673G>T c.(673-675)GAA>TAA p.E225* LHFPL3_uc003vcf.2_Nonsense_Mutation_p.E225* NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 211 integral to membrane 0 ACTGAAGGCAGAAAACAAAGG 0.433000 MSR1 4481 broad.mit.edu 37 8 16021687 16021687 + Missense_Mutation SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr8:16021687T>C uc003wwz.2 - 5 902 c.704A>G c.(703-705)CAT>CGT p.H235R MSR1_uc010lsu.2_Missense_Mutation_p.H253R|MSR1_uc003wxa.2_Missense_Mutation_p.H235R|MSR1_uc003wxb.2_Missense_Mutation_p.H235R|MSR1_uc011kxz.1_Missense_Mutation_p.H9R NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 235 Potential.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTGTTCCAAATGCACTTGTTC 0.353000 ADAM7 8756 broad.mit.edu 37 8 24358343 24358343 + Silent SNP C C T rs149009178 TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr8:24358343C>T uc003xeb.2 + 19 2156 c.2043C>T c.(2041-2043)GTC>GTT p.V681V ADAM7_uc003xec.2_Silent_p.V453V NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 681 Helical; (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGGTTATTGTCGGTATCGGAG 0.378000 RUNX1T1 862 broad.mit.edu 37 8 92983012 92983012 + Silent SNP C C T rs142225049 by1000genomes TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr8:92983012C>T uc003yfd.2 - 10 1497 c.1413G>A c.(1411-1413)GCG>GCA p.A471A RUNX1T1_uc003yfc.1_Silent_p.A444A|RUNX1T1_uc003yfe.1_Silent_p.A434A|RUNX1T1_uc010mao.2_Silent_p.A444A|RUNX1T1_uc011lgi.1_Silent_p.A482A|RUNX1T1_uc010man.1_Silent_p.A96A|RUNX1T1_uc003yfb.1_Silent_p.A434A NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 471 A -> V (in a colorectal cancer sample; somatic mutation). generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTTTCCGCTCCGCCTCAGACA 0.617000 SPAG1 6674 broad.mit.edu 37 8 101237549 101237549 + Missense_Mutation SNP C C G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr8:101237549C>G uc003yjh.1 + 14 1923 c.1837C>G c.(1837-1839)CGC>GGC p.R613G SPAG1_uc003yji.1_Missense_Mutation_p.R613G NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 613 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CAGCAGCCATCGCCAGCAGGG 0.468000 EIF3H 8667 broad.mit.edu 37 8 117658748 117658748 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr8:117658748G>A uc003yoa.2 - 7 949 c.923C>T c.(922-924)CCA>CTA p.P308L EIF3H_uc003yob.2_Missense_Mutation_p.P322L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 308 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) AGGCGGCTGTGGTGGTTTGAA 0.547000 TJP2 9414 broad.mit.edu 37 9 71840295 71840295 + Missense_Mutation SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:71840295A>G uc004ahe.2 + 6 1228 c.1028A>G c.(1027-1029)AAC>AGC p.N343S TJP2_uc011lrs.1_Missense_Mutation_p.N320S|TJP2_uc011lrt.1_Missense_Mutation_p.N320S|TJP2_uc004ahd.2_Missense_Mutation_p.N343S|TJP2_uc004ahf.2_Missense_Mutation_p.N343S|TJP2_uc011lru.1_Missense_Mutation_p.N347S|TJP2_uc011lrv.1_Missense_Mutation_p.N365S NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 343 PDZ 2. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 AAAGATGGCAACCTTCACGAA 0.498000 C9orf135 138255 broad.mit.edu 37 9 72521031 72521031 + Silent SNP T T C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:72521031T>C uc004ahl.2 + 6 734 c.669T>C c.(667-669)AGT>AGC p.S223S C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_Silent_p.S115S|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 223 Cytoplasmic (Potential). integral to membrane ovary(1) 1 CCTTGACTAGTGGGCCTATTG 0.333000 FBP1 2203 broad.mit.edu 37 9 97367856 97367856 + Missense_Mutation SNP A A C TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:97367856A>C uc004auw.3 - 6 1039 c.708T>G c.(706-708)GAT>GAG p.D236E FBP1_uc010mrl.2_Missense_Mutation_p.D236E NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 236 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) GAGCTGAATTATCCTGCAAGT 0.403000 SUSD1 64420 broad.mit.edu 37 9 114840902 114840902 + Missense_Mutation SNP G G A TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:114840902G>A uc004bfu.2 - 12 1710 c.1669C>T c.(1669-1671)CGT>TGT p.R557C SUSD1_uc010mui.2_Missense_Mutation_p.R557C|SUSD1_uc010muj.2_Missense_Mutation_p.R557C NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 557 Extracellular (Potential). integral to membrane calcium ion binding 0 GTACCCGGACGTAGGTCCAAG 0.498000 SH2D3C 10044 broad.mit.edu 37 9 130504085 130504085 + Silent SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:130504085A>G uc004bsc.2 - 9 2212 c.2070T>C c.(2068-2070)GGT>GGC p.G690G SH2D3C_uc010mxo.2_Silent_p.G530G|SH2D3C_uc004bry.2_Silent_p.G532G|SH2D3C_uc004brz.3_Silent_p.G336G|SH2D3C_uc011mak.1_Silent_p.G336G|SH2D3C_uc004bsa.2_Silent_p.G533G|SH2D3C_uc004bsb.2_Silent_p.G622G NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 690 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 TGTCCAGGGCACCCATGACCG 0.632000 GBGT1 26301 broad.mit.edu 37 9 136029548 136029548 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:136029548C>T uc004ccw.2 - 7 741 c.460G>A c.(460-462)GTT>ATT p.V154I RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.V107I|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Missense_Mutation_p.V137I|GBGT1_uc010nac.1_Missense_Mutation_p.V18I|GBGT1_uc004ccy.1_3'UTR NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 154 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) ACCCCGGGAACGGCTGCAGGG 0.602000 ADAMTS13 11093 broad.mit.edu 37 9 136320437 136320437 + Missense_Mutation SNP C C T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr9:136320437C>T uc004cdv.3 + 25 3724 c.3280C>T c.(3280-3282)CGC>TGC p.R1094C ADAMTS13_uc004cdp.3_Missense_Mutation_p.R321C|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1094C|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R1063C|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R1094C|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R1063C|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R764C|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 1094 TSP type-1 8. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGGCATCCAGCGCCGGCGTGA 0.577000 BRS3 680 broad.mit.edu 37 X 135572290 135572290 + Splice_Site SNP A A G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chrX:135572290A>G uc004ezv.1 + 2 584 c.435_splice c.e2-2 p.R145_splice NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATGTGTTTCTAGATACAAGGC 0.313000 EIF2C4 192670 broad.mit.edu 37 1 36297027 36297028 + Splice_Site INS - - T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:36297027_36297028insT uc001bzj.1 + 8 1039 c.849_splice c.e8-1 p.T283_splice NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCTCCTATAGTTTTCCTTTGC 0.257 EIF2C4 192670 broad.mit.edu 37 1 36297028 36297029 + Splice_Site INS - - T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:36297027_36297028G>GT uc001bzj.2 + 8 1039 c.849_splice c.e8-1 p.T283_splice NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 283 PAZ. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCTCCTATAGTTTTCCTTTGC 0.351 EIF2C4 192670 broad.mit.edu 37 1 36297027 36297028 + Splice_Site INS - - T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:36297027_36297028insT uc001bzj.1 + 8 1039 c.849_splice c.e8-1 p.T283_splice NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCTCCTATAGTTTTCCTTTGC 0.257 BTNL3 10917 broad.mit.edu 37 5 180432479 180432479 + Frame_Shift_Del DEL C C - TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr5:180432479delC uc003mmr.2 + 8 1136 c.1008delC c.(1006-1008)TTCfs p.F336fs BTNL3_uc010jlp.2_Frame_Shift_Del_p.F121fs NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 336 B30.2/SPRY.|Cytoplasmic (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) CTCAGGGTTTCCAAGCAGGGA 0.493 OR2A25 392138 broad.mit.edu 37 7 143772005 143772005 + Frame_Shift_Del DEL G G - TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr7:143772005delG uc011ktx.1 + 1 693 c.693delG c.(691-693)GAGfs p.E231fs NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AGTCAGGAGAGGGGTGCCAGA 0.483 EIF2C4 192670 broad.mit.edu 37 1 36297028 36297029 + Splice_Site INS - - T TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:36297027_36297028G>GT uc001bzj.2 + 8 1039 c.849_splice c.e8-1 p.T283_splice NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 283 PAZ. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTCTCCTATAGTTTTCCTTTGC 0.351 SYCP1 6847 broad.mit.edu 37 1 115428813 115428813 + Frame_Shift_Del DEL A A - TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:115428812_115428812GA>G uc001efr.3 + 13 1281 c.1072_1072GA>G c.(1072-1074)gaafs p.E358fs SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.E358fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.E358fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 358 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTAACTGAAGAAAAAGAAAC 0.323 TAF5L 27097 broad.mit.edu 37 1 229730496 229730521 + Frame_Shift_Del DEL AGTTTGAATTAGGGTGGAATTTGACA AGTTTGAATTAGGGTGGAATTTGACA - TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr1:229730495_229730520TAGTTTGAATTAGGGTGGAATTTGACA>T uc001htq.3 - 4 1460_1485 c.1294_1319TGTCAAATTCCACCCTAATTCAAACTA>A c.(1294-1320)gtcaaattccaccctaattcaaactacfs p.V432fs NM_014409 NP_055224 O75529 TAF5L_HUMAN Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA. 432 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CGTGGCCAAGTAGTTTGAATTAGGGTGGAATTTGACACAGTCCACA 0.597 ADH6 130 broad.mit.edu 37 4 100128702 100128703 + In_Frame_Ins INS - - CCC TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr4:100128701_100128702A>ACCC uc003huo.2 - 6 959_960 c.865_866T>GGGT c.(865-867)gtc>GGGTc p.V289G LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_In_Frame_Ins_p.V80G|ADH6_uc003hup.4_In_Frame_Ins_p.V289G|ADH6_uc010ile.3_Intron NM_001102470 NP_001095940 P28332 ADH6_HUMAN Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA. 289 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) AACCACACAGACCCCATAGCTC 0.475 SLCO2B1 11309 broad.mit.edu 37 11 74880733 74880748 + Frame_Shift_Del DEL GATGGGGCCAGGCCTG GATGGGGCCAGGCCTG - rs140630595 TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr11:74880732_74880747TGATGGGGCCAGGCCTG>T uc001owb.3 + 5 1099_1114 c.704_719TGATGGGGCCAGGCCTG>T c.(703-720)atgatggggccaggcctgfs p.M235fs SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Frame_Shift_Del_p.M91fs|SLCO2B1_uc010rrs.2_Frame_Shift_Del_p.M119fs|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Frame_Shift_Del_p.M213fs NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 235 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GCAGTGACCATGATGGGGCCAGGCCTGGCCTTTGGG 0.565 AOC3 8639 broad.mit.edu 37 17 41003597 41003598 + Frame_Shift_Ins INS - - G TCGA-BR-8373-01A-11D-2340-08 TCGA-BR-8373-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f2a8889-4374-4037-bb56-0f20733380e3 2c5cc2c4-1c45-478b-9575-8e0206bb7de3 g.chr17:41003596_41003597T>TG uc002ibv.3 + 0 396_397 c.236_237T>TG c.(235-237)ctgfs p.L79fs NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 79 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) ACCCAGCGGCTGGGGCCAGGGC 0.658