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 VWA1 64856 broad.mit.edu 37 1 1372687 1372687 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:1372687G>A uc001afs.2 + 2 674 c.454G>A c.(454-456)GGC>AGC p.G152S VWA1_uc001afr.2_Intron NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 152 VWFA. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CGACCCTGTGGGCCCCCCCAT 0.647000 KIF1B 23095 broad.mit.edu 37 1 10336425 10336425 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:10336425T>C uc001aqx.3 + 12 1207 c.1005T>C c.(1003-1005)GAT>GAC p.D335D KIF1B_uc001aqv.3_Silent_p.D329D|KIF1B_uc001aqw.3_Silent_p.D329D|KIF1B_uc001aqy.2_Silent_p.D335D|KIF1B_uc001aqz.2_Silent_p.D335D|KIF1B_uc001ara.2_Silent_p.D335D|KIF1B_uc001arb.2_Silent_p.D335D NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 335 Kinesin-motor.|Interaction with KBP. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCCCCGCGGATATCAACTACG 0.398000 PTCHD2 57540 broad.mit.edu 37 1 11595573 11595573 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:11595573G>A uc001ash.3 + 20 3826 c.3688G>A c.(3688-3690)GGC>AGC p.G1230S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1230 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GTACTGGAGCGGCTGGGAGAT 0.647000 ATP13A2 23400 broad.mit.edu 37 1 17312850 17312850 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:17312850C>T uc001baa.2 - 29 3599 c.3409G>A c.(3409-3411)GTG>ATG p.V1137M ATP13A2_uc001azz.1_Missense_Mutation_p.R227H|ATP13A2_uc001bab.2_Missense_Mutation_p.V1132M|ATP13A2_uc001bac.2_Missense_Mutation_p.R1036H NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 1137 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGGTCTAGCACGCTCTGCAAA 0.701000 PLA2G2A 5320 broad.mit.edu 37 1 20304940 20304940 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:20304940T>C uc001bcu.2 - 3 336 c.118A>G c.(118-120)AGT>GGT p.S40G PLA2G2A_uc001bcv.2_Missense_Mutation_p.S40G|PLA2G2A_uc010oda.1_Missense_Mutation_p.S40G|PLA2G2A_uc010odb.1_Missense_Mutation_p.S40G NM_001161729 NP_001155201 P14555 PA2GA_HUMAN phospholipase A2, group IIA precursor 40 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AAGCCATAACTGAGTGCGGCT 0.547000 PINK1 65018 broad.mit.edu 37 1 20975501 20975501 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:20975501G>A uc001bdm.2 + 7 1359 c.1265G>A c.(1264-1266)CGT>CAT p.R422H PINK1_uc001bdn.2_Missense_Mutation_p.R115H NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 422 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCACGGCCCGTCCTGGCCCC 0.577000 SRRM1 10250 broad.mit.edu 37 1 24981444 24981444 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:24981444G>A uc001bjm.2 + 9 1363 c.1139G>A c.(1138-1140)AGC>AAC p.S380N SRRM1_uc010oel.1_Missense_Mutation_p.S380N|SRRM1_uc009vrh.1_Missense_Mutation_p.S341N|SRRM1_uc009vri.1_Missense_Mutation_p.S297N|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 380 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AGGACATCCAGCCCCCCTCGG 0.542000 MAN1C1 57134 broad.mit.edu 37 1 26104703 26104703 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:26104703C>T uc001bkm.2 + 9 1695 c.1365C>T c.(1363-1365)TCC>TCT p.S455S MAN1C1_uc009vry.1_Silent_p.S275S|MAN1C1_uc001bkn.2_5'Flank NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 455 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CCTGTTTCTCCGGGGGCATGA 0.607000 CATSPER4 378807 broad.mit.edu 37 1 26526548 26526548 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:26526548A>G uc010oez.1 + 7 986 c.986A>G c.(985-987)GAG>GGG p.E329G CATSPER4_uc010oey.1_Missense_Mutation_p.E151G|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 329 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) ACCTTTAGTGAGGTGCGTGGG 0.502000 EIF2C3 192669 broad.mit.edu 37 1 36474379 36474379 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:36474379G>A uc001bzp.2 + 7 1137 c.881_splice c.e7+1 p.T294_splice EIF2C3_uc001bzq.2_Splice_Site_p.T60_splice NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 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) GTCATCAAACGTAAGAAAAGT 0.448000 EIF2C3 192669 broad.mit.edu 37 1 36505946 36505946 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:36505946C>T uc001bzp.2 + 16 2332 c.2076C>T c.(2074-2076)TGC>TGT p.C692C EIF2C3_uc001bzq.2_Silent_p.C458C NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 692 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) GAGAAGCCTGCATCAGTTTGG 0.338000 CSF3R 1441 broad.mit.edu 37 1 36940984 36940984 + Missense_Mutation SNP C C T rs142999683 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:36940984C>T uc001caw.1 - 4 533 c.355G>A c.(355-357)GCA>ACA p.A119T CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.A119T|CSF3R_uc001cax.1_Missense_Mutation_p.A119T|CSF3R_uc001cay.1_Missense_Mutation_p.A119T NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 119 Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTACAGCCTGCGCGCAGCTCA 0.483000 HPCAL4 51440 broad.mit.edu 37 1 40149704 40149704 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:40149704C>T uc001cdr.2 - 3 403 c.283G>A c.(283-285)GGC>AGC p.G95S HPCAL4_uc010oix.1_Intron NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 95 EF-hand 2. central nervous system development intracellular calcium ion binding central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCGAAGCTGCCGCGGGAGGTG 0.632000 SMAP2 64744 broad.mit.edu 37 1 40879887 40879887 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:40879887G>A uc001cfj.2 + 6 611 c.546G>A c.(544-546)GCG>GCA p.A182A SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 182 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) AATCCACAGCGCCTGTCATGG 0.423000 HIVEP3 59269 broad.mit.edu 37 1 41978959 41978959 + Missense_Mutation SNP C C T rs144265546 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:41978959C>T uc001cgz.3 - 8 7146 c.5933G>A c.(5932-5934)CGT>CAT p.R1978H HIVEP3_uc001cha.3_Missense_Mutation_p.R1978H|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1978 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TAGTGGTGGACGGCTGCCTGC 0.612000 TIE1 7075 broad.mit.edu 37 1 43770628 43770628 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:43770628C>T uc001ciu.2 + 2 244 c.165C>T c.(163-165)GAC>GAT p.D55D TIE1_uc010okd.1_Silent_p.D55D|TIE1_uc010oke.1_Silent_p.D10D|TIE1_uc009vwq.2_Silent_p.D55D|TIE1_uc010okf.1_Translation_Start_Site|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Silent_p.D55D|TIE1_uc010okb.1_Silent_p.D55D|TIE1_uc010okc.1_Silent_p.D55D NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 55 Extracellular (Potential).|Ig-like C2-type 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGGCTCGGACGCCTGGGGCC 0.736000 ST3GAL3 6487 broad.mit.edu 37 1 44386577 44386577 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:44386577G>A uc001ckc.2 + 11 1192 c.1015G>A c.(1015-1017)GTT>ATT p.V339I ST3GAL3_uc001cjz.2_Missense_Mutation_p.V354I|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.V408I|ST3GAL3_uc001ckd.2_Missense_Mutation_p.V393I|ST3GAL3_uc001cke.2_Missense_Mutation_p.V323I|ST3GAL3_uc001ckf.2_Missense_Mutation_p.V377I|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.V309I|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.V308I|ST3GAL3_uc009vwy.2_Missense_Mutation_p.V245I|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.V113I|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.V126I|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 339 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CTATGAGACCGTTCGCATGGC 0.582000 KIF2C 11004 broad.mit.edu 37 1 45226082 45226082 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:45226082G>A uc001cmg.3 + 15 1613 c.1498G>A c.(1498-1500)GCG>ACG p.A500T KIF2C_uc010olb.1_Missense_Mutation_p.A459T|KIF2C_uc010olc.1_Missense_Mutation_p.A387T|KIF2C_uc001cmh.3_Missense_Mutation_p.A446T NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 500 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGAGCGAGGCGCGGACACTTC 0.557000 BTF3L4 91408 broad.mit.edu 37 1 52530502 52530502 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:52530502A>C uc001ctk.2 + 3 268 c.60A>C c.(58-60)ACA>ACC p.T20T BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Silent_p.T20T NM_152265 NP_689478 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 isoform 1 20 large_intestine(1) 1 TTCAGGGTACAGCTCGCAGAA 0.408000 LRP8 7804 broad.mit.edu 37 1 53741403 53741403 + Silent SNP G G A rs141574960 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:53741403G>A uc001cvi.1 - 6 1048 c.906C>T c.(904-906)GAC>GAT p.D302D LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Intron|LRP8_uc001cvj.1_Silent_p.D302D|LRP8_uc001cvl.1_Silent_p.D173D NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 302 LDL-receptor class A 7.|Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 ACTGGAACTCGTCCCCACGGC 0.592000 ROR1 4919 broad.mit.edu 37 1 64515460 64515460 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:64515460C>A uc001dbj.2 + 3 660 c.261C>A c.(259-261)CCC>CCA p.P87P ROR1_uc001dbi.3_Silent_p.P87P NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 87 Ig-like C2-type.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 ATCCACCTCCCACCATCCGCT 0.542000 SLC35D1 23169 broad.mit.edu 37 1 67470100 67470100 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:67470100T>C uc001ddk.2 - 12 1375 c.991A>G c.(991-993)ACT>GCT p.T331A NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 331 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) TCAGTGAAAGTGATATAGGAA 0.448000 C1orf141 400757 broad.mit.edu 37 1 67558998 67558998 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:67558998T>C uc001ddl.1 - 7 1004 c.893A>G c.(892-894)AAG>AGG p.K298R C1orf141_uc001ddm.1_Missense_Mutation_p.K298R|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 298 ovary(1) 1 AGTTTTCTTCTTTAGTTTATC 0.343000 FUBP1 8880 broad.mit.edu 37 1 78430841 78430841 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:78430841G>A uc001dii.2 - 8 637 c.548C>T c.(547-549)CCG>CTG p.P183L FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P204L NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 183 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 TGCATTTCCCGGTCCATCGCC 0.403000 DDAH1 23576 broad.mit.edu 37 1 85816154 85816154 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:85816154C>T uc001dlb.2 - 4 702 c.541G>A c.(541-543)GCT>ACT p.A181T DDAH1_uc001dlc.2_Missense_Mutation_p.A78T|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.A81T|DDAH1_uc009wco.2_Missense_Mutation_p.A78T NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 181 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TTAGGCCCAGCCATGCTGCAG 0.468000 PKN2 5586 broad.mit.edu 37 1 89298759 89298759 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:89298759G>A uc001dmn.2 + 21 3013 c.2671_splice c.e21-1 p.L891_splice PKN2_uc010osp.1_Splice_Site_p.L875_splice|PKN2_uc010osq.1_Splice_Site_p.L734_splice|PKN2_uc009wcv.2_Splice_Site_p.L843_splice|PKN2_uc010osr.1_Splice_Site_p.L556_splice NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) CATTATGCTAGCTGTTAAGAA 0.308000 LRRC8B 23507 broad.mit.edu 37 1 90048782 90048782 + Silent SNP G G A rs114525158 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:90048782G>A uc001dni.2 + 7 1080 c.573G>A c.(571-573)TCG>TCA p.S191S LRRC8B_uc001dnh.2_Silent_p.S191S|LRRC8B_uc001dnj.2_Silent_p.S191S NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 191 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TTTTGCTTTCGTCCTCAGGGT 0.527000 AGL 178 broad.mit.edu 37 1 100342155 100342155 + Splice_Site SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:100342155T>C uc001dsi.1 + 11 1823 c.1423_splice c.e11+2 p.G475_splice AGL_uc001dsj.1_Splice_Site_p.G475_splice|AGL_uc001dsk.1_Splice_Site_p.G475_splice|AGL_uc001dsl.1_Splice_Site_p.G475_splice|AGL_uc001dsm.1_Splice_Site_p.G459_splice|AGL_uc001dsn.1_Splice_Site_p.G458_splice NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTGAACCGGGTATGTAATTTT 0.378000 S1PR1 1901 broad.mit.edu 37 1 101704655 101704655 + Missense_Mutation SNP G G A rs140298731 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:101704655G>A uc001dud.2 + 2 629 c.115G>A c.(115-117)GCG>ACG p.A39T S1PR1_uc009weg.2_Missense_Mutation_p.A39T NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 39 Extracellular (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 GAATATCAGCGCGGACAAGGA 0.498000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COL11A1 1301 broad.mit.edu 37 1 103379956 103379956 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:103379956A>T uc001dul.2 - 52 4248 c.3930T>A c.(3928-3930)CCT>CCA p.P1310P COL11A1_uc001duk.2_Silent_p.P506P|COL11A1_uc001dum.2_Silent_p.P1322P|COL11A1_uc001dun.2_Silent_p.P1271P|COL11A1_uc009weh.2_Silent_p.P1194P NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1310 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAAAACCAACAGGACCCTAGA 0.353000 CLCC1 23155 broad.mit.edu 37 1 109479933 109479933 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:109479933C>A uc001dwe.1 - 10 1241 c.1149G>T c.(1147-1149)GAG>GAT p.E383D AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.E383D|CLCC1_uc001dwg.1_Missense_Mutation_p.E333D|CLCC1_uc009wes.1_Missense_Mutation_p.E262D|CLCC1_uc009wet.1_Missense_Mutation_p.E198D NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Mid-1-related chloride channel 1 isoform 1 383 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus liver(1) 1 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) AATCAATTTCCTCCTGCCGTC 0.527000 WDR47 22911 broad.mit.edu 37 1 109553736 109553736 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:109553736C>T uc001dwj.2 - 5 1308 c.932G>A c.(931-933)CGC>CAC p.R311H WDR47_uc001dwl.2_Missense_Mutation_p.R318H|WDR47_uc001dwi.2_Missense_Mutation_p.R311H|WDR47_uc001dwk.2_Missense_Mutation_p.R283H|WDR47_uc010ovf.1_Missense_Mutation_p.R238H NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 311 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATTCAGAGAGCGGGTCATATA 0.453000 CELSR2 1952 broad.mit.edu 37 1 109794579 109794579 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:109794579C>T uc001dxa.3 + 1 1939 c.1878C>T c.(1876-1878)GGC>GGT p.G626G NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 626 Cadherin 5.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAGCTGTGGGCACCAGCGTGG 0.547000 CELSR2 1952 broad.mit.edu 37 1 109804465 109804465 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:109804465G>A uc001dxa.3 + 5 4394 c.4333G>A c.(4333-4335)GGA>AGA p.G1445R NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1445 Extracellular (Potential).|Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATTCGTGCCCGGAGGAGTCAG 0.592000 MOV10 4343 broad.mit.edu 37 1 113241375 113241375 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:113241375G>A uc001eck.2 + 17 2817 c.2547G>A c.(2545-2547)AGG>AGA p.R849R MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.R849R|MOV10_uc001ecm.2_Silent_p.R789R NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 849 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) AACTTGACAGGGAGCTTCGAG 0.542000 WDR3 10885 broad.mit.edu 37 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:118499758G>A uc010oxe.1 + 25 2587 c.2521G>A c.(2521-2523)GAA>AAA p.E841K WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 841 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ACTCTTTAACGAATTCATTCA 0.388000 PPIAL4G 644591 broad.mit.edu 37 1 143767741 143767741 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:143767741A>G uc001ejt.2 - 1 141 c.108T>C c.(106-108)TTT>TTC p.F36F NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 36 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 TCAGAGCACGAAAGTTTTCTG 0.473000 PIAS3 10401 broad.mit.edu 37 1 145584029 145584029 + Silent SNP G G A rs147716144 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:145584029G>A uc001eoc.1 + 10 1351 c.1260G>A c.(1258-1260)CCG>CCA p.P420P NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Silent_p.P89P NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 420 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTTGCCCCCCGCCAGGGTATG 0.507000 TARS2 80222 broad.mit.edu 37 1 150460423 150460423 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:150460423C>T uc001euq.2 + 2 163 c.156C>T c.(154-156)AGC>AGT p.S52S TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Silent_p.S52S|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Silent_p.S52S NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 52 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GATTAGCAAGCATGGCACAGA 0.547000 SELENBP1 8991 broad.mit.edu 37 1 151338267 151338267 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:151338267C>T uc001exx.2 - 8 946 c.899G>A c.(898-900)GGC>GAC p.G300D SELENBP1_uc010pcy.1_Missense_Mutation_p.G342D|SELENBP1_uc001exy.2_Missense_Mutation_p.G197D|SELENBP1_uc001exz.2_Missense_Mutation_p.G197D|SELENBP1_uc010pcz.1_Missense_Mutation_p.G238D|SELENBP1_uc009wms.2_Missense_Mutation_p.G136D|SELENBP1_uc009wmt.2_Missense_Mutation_p.G197D|SELENBP1_uc001eya.2_Missense_Mutation_p.G236D|SELENBP1_uc009wmu.2_Missense_Mutation_p.G197D NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 300 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCAGCCAGCCCTTCACTTT 0.567000 POGZ 23126 broad.mit.edu 37 1 151400802 151400802 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:151400802G>T uc001eyd.1 - 6 962 c.656C>A c.(655-657)CCT>CAT p.P219H POGZ_uc001eye.1_Missense_Mutation_p.P166H|POGZ_uc010pdb.1_Missense_Mutation_p.P219H|POGZ_uc001eyf.1_Missense_Mutation_p.P166H|POGZ_uc010pdc.1_Missense_Mutation_p.P166H|POGZ_uc009wmv.1_Missense_Mutation_p.P124H|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.P219H NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 219 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGCCTCACAGGCATTGTGGA 0.567000 TCHH 7062 broad.mit.edu 37 1 152080396 152080396 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:152080396C>T uc001ezp.2 - 2 5297 c.5297G>A c.(5296-5298)CGC>CAC p.R1766H TCHH_uc009wne.1_Missense_Mutation_p.R1766H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1766 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCTCCTGGCGGCGCAGCTG 0.587000 HRNR 388697 broad.mit.edu 37 1 152188175 152188175 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:152188175C>T uc001ezt.1 - 3 6006 c.5930G>A c.(5929-5931)CGT>CAT p.R1977H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1977 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATATGGGCCACGGCTGGAAGA 0.602000 FLG 2312 broad.mit.edu 37 1 152285028 152285028 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:152285028G>A uc001ezu.1 - 3 2370 c.2334C>T c.(2332-2334)TCC>TCT p.S778S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 778 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTCACGTGCGGACTCTTGGT 0.567000 Ichthyosis SPRR1B 6699 broad.mit.edu 37 1 153004968 153004968 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:153004968C>T uc001fba.2 + 2 211 c.147C>T c.(145-147)TGC>TGT p.C49C SPRR1B_uc009wnx.1_RNA NM_003125 NP_003116 P22528 SPR1B_HUMAN small proline-rich protein 1B 49 6 X 8 AA approximate tandem repeats.|3. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAGCCCTGCCACCCCAAAG 0.632000 RAG1AP1 55974 broad.mit.edu 37 1 155108811 155108811 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:155108811G>T uc001fhj.3 + 2 217 c.117G>T c.(115-117)GTG>GTT p.V39V RAG1AP1_uc010pey.1_RNA|RAG1AP1_uc001fhk.3_Nonsense_Mutation_p.G26*|RAG1AP1_uc001fhl.3_Silent_p.V39V NM_018845 NP_061333 Q9BRV3 SWET1_HUMAN recombination activating gene 1 activating 39 MtN3/slv 1. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCGGAGTGTGGACAACGTCC 0.647000 DPM3 54344 broad.mit.edu 37 1 155112444 155112444 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:155112444G>A uc001fhn.2 - 2 308 c.273C>T c.(271-273)CGC>CGT p.R91R RAG1AP1_uc010pey.1_Intron|DPM3_uc001fhm.2_Silent_p.R121R NM_153741 NP_714963 Q9P2X0 DPM3_HUMAN dolichyl-phosphate mannosyltransferase 91 C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane protein binding 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGTCAGAAGCGCAGCCCCC 0.552000 CLK2 1196 broad.mit.edu 37 1 155233068 155233068 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:155233068G>A uc001fjy.2 - 13 1731 c.1441C>T c.(1441-1443)CGC>TGC p.R481C RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R480C|CLK2_uc001fjx.2_Missense_Mutation_p.R253C|CLK2_uc009wqm.2_Missense_Mutation_p.R481C NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 481 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCCGAAGGCGGGCGAAGAAA 0.567000 Other_conserved_DNA_damage_response_genes ASH1L 55870 broad.mit.edu 37 1 155448699 155448699 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:155448699C>T uc009wqq.2 - 3 4442 c.3962G>A c.(3961-3963)CGA>CAA p.R1321Q ASH1L_uc001fkt.2_Missense_Mutation_p.R1321Q|ASH1L_uc009wqr.1_Missense_Mutation_p.R1321Q NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1321 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAAGTTGATTCGAAAGATAGT 0.408000 CD5L 922 broad.mit.edu 37 1 157804523 157804523 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:157804523A>G uc001frk.3 - 4 535 c.392T>C c.(391-393)TTC>TCC p.F131S NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 131 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACTGGGGAGAAAGAGCTCTC 0.572000 SPTA1 6708 broad.mit.edu 37 1 158609686 158609686 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:158609686G>A uc001fst.1 - 34 5048 c.4849C>T c.(4849-4851)CGG>TGG p.R1617W NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1617 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCAAAGTCCCGGATGCTTGTG 0.448000 KCNJ9 3765 broad.mit.edu 37 1 160053937 160053937 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:160053937C>T uc001fuy.1 + 2 359 c.117C>T c.(115-117)CGC>CGT p.R39R NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 39 Cytoplasmic (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAACGTGCGCGAGACATACC 0.582000 FCRLB 127943 broad.mit.edu 37 1 161697260 161697260 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:161697260G>A uc001gbh.2 + 8 1323 c.1089G>A c.(1087-1089)TCG>TCA p.S363S FCRLB_uc009wus.2_Silent_p.S363S|FCRLB_uc001gbj.2_Missense_Mutation_p.R315Q|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Missense_Mutation_p.R308Q|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.S363S|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 363 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TGGAACAATCGGCTGGAGCCC 0.672000 MGST3 4259 broad.mit.edu 37 1 165624622 165624622 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:165624622C>T uc001gdf.2 + 6 428 c.340C>T c.(340-342)CGA>TGA p.R114* MGST3_uc001gdg.2_Nonsense_Mutation_p.R128* NM_004528 NP_004519 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 114 leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) CAAGCGTAGTCGAGGAGCCCT 0.512000 SCYL3 57147 broad.mit.edu 37 1 169828337 169828337 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:169828337C>T uc001ggs.2 - 11 1355 c.1157G>A c.(1156-1158)CGT>CAT p.R386H SCYL3_uc010plw.1_Missense_Mutation_p.R32H|SCYL3_uc001ggt.2_Missense_Mutation_p.R386H|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 386 HEAT 4. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTAGTATCACGCAGGCCCAG 0.488000 TNN 63923 broad.mit.edu 37 1 175049336 175049336 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:175049336G>A uc001gkl.1 + 4 935 c.822G>A c.(820-822)ACG>ACA p.T274T TNN_uc010pmx.1_Silent_p.T274T NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 274 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TCAAGAACACGGAGGATTCTC 0.617000 TNR 7143 broad.mit.edu 37 1 175355234 175355234 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:175355234C>T uc001gkp.1 - 6 1792 c.1711G>A c.(1711-1713)GAG>AAG p.E571K TNR_uc009wwu.1_Missense_Mutation_p.E571K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 571 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACTGACACCTCGTATCGGGAG 0.637000 RFWD2 64326 broad.mit.edu 37 1 175956141 175956141 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:175956141G>A uc001gku.1 - 18 2327 c.2071C>T c.(2071-2073)CGA>TGA p.R691* RFWD2_uc001gkv.1_Nonsense_Mutation_p.R667*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.R451*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.R490*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.R530* NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 691 WD 7. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCTTCTTTTCGGTCTTTGTCG 0.373000 TDRD5 163589 broad.mit.edu 37 1 179620047 179620047 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:179620047G>A uc001gnf.1 + 12 2096 c.1846G>A c.(1846-1848)GGT>AGT p.G616S TDRD5_uc010pnp.1_Missense_Mutation_p.G616S|TDRD5_uc001gnh.1_Missense_Mutation_p.G171S NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 616 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 GAAGTTGTGCGGTTTGAAGCC 0.368000 CACNA1E 777 broad.mit.edu 37 1 181741306 181741306 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:181741306G>A uc001gow.2 + 37 5243 c.5078G>A c.(5077-5079)CGC>CAC p.R1693H CACNA1E_uc009wxs.2_Missense_Mutation_p.R1581H|CACNA1E_uc001gox.1_Missense_Mutation_p.R919H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R919H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1693 Extracellular (Potential).|IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GAGAACGAACGCTGCGGCACC 0.557000 GLUL 2752 broad.mit.edu 37 1 182354926 182354926 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:182354926G>A uc001gpa.1 - 5 784 c.572C>T c.(571-573)GCG>GTG p.A191V GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.A191V|GLUL_uc001gpc.1_Missense_Mutation_p.A191V|GLUL_uc001gpd.1_Missense_Mutation_p.A191V NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 191 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) ATTAGTCCCCGCAATCTTGAC 0.522000 RGL1 23179 broad.mit.edu 37 1 183885736 183885736 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:183885736G>A uc001gqo.2 + 16 2062 c.1905G>A c.(1903-1905)TCG>TCA p.S635S RGL1_uc001gqm.2_Silent_p.S670S|RGL1_uc010pog.1_Silent_p.S633S|RGL1_uc010poh.1_Silent_p.S633S|RGL1_uc010poi.1_Silent_p.S606S NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 635 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CCATTACCTCGACTGTGCTGC 0.507000 TPR 7175 broad.mit.edu 37 1 186326586 186326586 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:186326586G>A uc001grv.2 - 14 1964 c.1667C>T c.(1666-1668)GCC>GTC p.A556V TPR_uc010pop.1_Missense_Mutation_p.A632V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 556 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCTCTAAGGGCCACTAAGAG 0.378000 T NTRK1 papillary thyroid C1orf27 54953 broad.mit.edu 37 1 186368101 186368101 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:186368101A>G uc001grw.2 + 11 1161 c.925A>G c.(925-927)ATA>GTA p.I309V C1orf27_uc010poq.1_Missense_Mutation_p.I286V|C1orf27_uc010por.1_Missense_Mutation_p.I277V|OCLM_uc001gry.2_5'Flank NM_017847 NP_060317 Q5SWX8 ODR4_HUMAN odorant response abnormal 4 isoform 1 309 integral to membrane oxidoreductase activity|zinc ion binding ovary(1) 1 AAAGAGGGATATATTGAACAC 0.274000 FAM5C 339479 broad.mit.edu 37 1 190067835 190067835 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:190067835C>T uc001gse.1 - 8 1846 c.1614G>A c.(1612-1614)AAG>AAA p.K538K FAM5C_uc010pot.1_Silent_p.K436K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 538 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ACTTATTGCTCTTCAAGGTGA 0.443000 KCNT2 343450 broad.mit.edu 37 1 196300297 196300297 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:196300297T>G uc001gtd.1 - 18 2152 c.2092A>C c.(2092-2094)AGA>CGA p.R698R KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.R648R|KCNT2_uc001gtf.1_Silent_p.R698R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.R698R|KCNT2_uc001gth.1_Silent_p.R219R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 698 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTGTCTAATCTTAAGCAGCAA 0.299000 ZBTB41 360023 broad.mit.edu 37 1 197128758 197128758 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:197128758G>A uc001gtx.1 - 10 2530 c.2461C>T c.(2461-2463)CCG>TCG p.P821S ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AGGTCACTCGGAGTGTCAGGC 0.478000 CACNA1S 779 broad.mit.edu 37 1 201022686 201022686 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:201022686G>A uc001gvv.2 - 30 3923 c.3696C>T c.(3694-3696)AGC>AGT p.S1232S NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1232 IV.|Helical; Name=S4 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGAAGAAGGCGCTGGAGATGC 0.642000 IPO9 55705 broad.mit.edu 37 1 201817694 201817694 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:201817694C>T uc001gwz.2 + 4 536 c.486C>T c.(484-486)GCC>GCT p.A162A NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 162 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 ACTTAAATGCCGTCCATGGAG 0.532000 GPR37L1 9283 broad.mit.edu 37 1 202097070 202097070 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:202097070C>A uc001gxj.2 + 2 895 c.832C>A c.(832-834)CCC>ACC p.P278T NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 278 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 GGAGCCTGCCCCCACCATGGG 0.617000 SLC45A3 85414 broad.mit.edu 37 1 205632446 205632446 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:205632446C>T uc001hda.1 - 3 812 c.473G>A c.(472-474)CGC>CAC p.R158H SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 158 transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GTAGGCCTGGCGACAGTGGTC 0.637000 T ETV1|ETV5|ELK4|ERG prostate IRF6 3664 broad.mit.edu 37 1 209961960 209961960 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:209961960G>A uc001hhq.1 - 9 1472 c.1209C>T c.(1207-1209)TAC>TAT p.Y403Y IRF6_uc010psm.1_Silent_p.Y308Y|IRF6_uc009xct.1_Silent_p.Y403Y NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 403 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) AAAACATCTCGTAGATCATCC 0.463000 HNSCC(57;0.16) SPATA17 128153 broad.mit.edu 37 1 217975157 217975157 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:217975157C>T uc001hlh.1 + 9 996 c.970C>T c.(970-972)CGA>TGA p.R324* SPATA17_uc001hli.2_Nonsense_Mutation_p.R324* NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 324 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGAACAATTCCGAAGTGAAAA 0.294000 TAF1A 9015 broad.mit.edu 37 1 222750877 222750877 + Missense_Mutation SNP G G A rs148113527 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:222750877G>A uc009xdz.1 - 5 703 c.514C>T c.(514-516)CGG>TGG p.R172W TAF1A_uc001hni.1_Missense_Mutation_p.R58W|TAF1A_uc001hnj.2_Missense_Mutation_p.R172W|TAF1A_uc001hnk.2_Missense_Mutation_p.R58W|TAF1A_uc010pur.1_Missense_Mutation_p.R172W NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 172 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) AATATTTCCCGGGAAGACGTA 0.383000 LBR 3930 broad.mit.edu 37 1 225598070 225598070 + Missense_Mutation SNP G G A rs144672633 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:225598070G>A uc001hoy.2 - 10 1380 c.1237C>T c.(1237-1239)CGC>TGC p.R413C LBR_uc001hoz.2_Missense_Mutation_p.R413C|LBR_uc001hpa.1_Missense_Mutation_p.R413C NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 413 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GGAACAGCGCGGTCCTGTATT 0.348000 ACBD3 64746 broad.mit.edu 37 1 226349293 226349293 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:226349293G>A uc001hpy.2 - 4 714 c.667C>T c.(667-669)CGA>TGA p.R223* NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 223 Arg-rich.|Potential.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) tcctcccgtcgaagcctttcc 0.095000 PARP1 142 broad.mit.edu 37 1 226568840 226568840 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:226568840G>A uc001hqd.3 - 9 1400 c.1229C>T c.(1228-1230)GCC>GTC p.A410V NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 410 Automodification domain.|BRCT. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CTCAATCATGGCCTTCACTTC 0.493000 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA OBSCN 84033 broad.mit.edu 37 1 228509573 228509573 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:228509573G>T uc009xez.1 + 55 15075 c.15031G>T c.(15031-15033)GCC>TCC p.A5011S OBSCN_uc001hsn.2_Missense_Mutation_p.A5011S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5011 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCGCCGGGCTGCCCGTCGGCT 0.637000 ABCB10 23456 broad.mit.edu 37 1 229685004 229685004 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:229685004C>T uc001htp.3 - 2 738 c.695G>A c.(694-696)CGT>CAT p.R232H NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 232 Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) GAGGTAGACACGAATGGCATT 0.527000 DISC1 27185 broad.mit.edu 37 1 231902976 231902976 + Silent SNP G G A rs144844117 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:231902976G>A uc001huz.2 + 5 1412 c.1359G>A c.(1357-1359)ACG>ACA p.T453T TSNAX-DISC1_uc010pwg.1_Silent_p.T442T|TSNAX-DISC1_uc010pwh.1_Silent_p.T408T|TSNAX-DISC1_uc010pwi.1_Silent_p.T408T|TSNAX-DISC1_uc010pwj.1_Silent_p.T442T|TSNAX-DISC1_uc010pwk.1_Silent_p.T442T|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.T453T|DISC1_uc010pwr.1_Silent_p.T453T|DISC1_uc010pws.1_Silent_p.T453T|DISC1_uc010pwt.1_Silent_p.T453T|DISC1_uc010pwu.1_Silent_p.T103T|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.T453T|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.T453T|DISC1_uc010pxb.1_Silent_p.T453T|DISC1_uc010pxc.1_Silent_p.T453T|DISC1_uc010pxd.1_Silent_p.T98T|DISC1_uc010pxe.1_Silent_p.T453T|DISC1_uc009xfr.2_Silent_p.T408T|DISC1_uc010pxf.1_Silent_p.T453T|DISC1_uc010pxg.1_Silent_p.T453T|DISC1_uc010pxh.1_Silent_p.T485T|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.T98T|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.T98T|DISC1_uc001hva.2_Silent_p.T453T NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 453 Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) TGTCCATCACGAGACGAGACT 0.463000 KIAA1383 54627 broad.mit.edu 37 1 232942451 232942451 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:232942451T>C uc001hvh.2 + 1 1814 c.1682T>C c.(1681-1683)ATA>ACA p.I561T NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 419 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CCTGCTCATATACATCCTCAC 0.418000 KCNK1 3775 broad.mit.edu 37 1 233802686 233802686 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:233802686G>T uc010pxo.1 + 2 869 c.701G>T c.(700-702)GGG>GTG p.G234V KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA NM_002245 NP_002236 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 234 voltage-gated potassium channel complex inward rectifier potassium channel activity central_nervous_system(1) 1 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TATGTGCCTGGGGAAGGCTAC 0.443000 NID1 4811 broad.mit.edu 37 1 236201453 236201453 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:236201453G>T uc001hxo.2 - 5 1338 c.1236C>A c.(1234-1236)TGC>TGA p.C412* NID1_uc009xgd.2_Nonsense_Mutation_p.C412* NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 412 EGF-like 1. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CGACACAGCTGCAGCAGAAGC 0.537000 RYR2 6262 broad.mit.edu 37 1 237936847 237936847 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:237936847T>C uc001hyl.1 + 87 11794 c.11674T>C c.(11674-11676)TAC>CAC p.Y3892H RYR2_uc010pya.1_Missense_Mutation_p.Y307H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3892 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATTGGTATTACTCTGGGAA 0.338000 CNST 163882 broad.mit.edu 37 1 246755187 246755187 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:246755187T>A uc001ibp.2 + 2 701 c.323T>A c.(322-324)ATT>AAT p.I108N CNST_uc001ibo.3_Missense_Mutation_p.I108N NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 108 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GACAAAAAAATTCCTGGAAAA 0.398000 OR2M7 391196 broad.mit.edu 37 1 248487774 248487774 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:248487774C>T uc010pzk.1 - 1 97 c.97G>A c.(97-99)GCC>ACC p.A33T NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAAAGATGGCCAGGACCAGA 0.517000 ITIH5 80760 broad.mit.edu 37 10 7657997 7657997 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:7657997A>G uc001ijq.2 - 7 966 c.887T>C c.(886-888)GTG>GCG p.V296A ITIH5_uc001ijp.2_Missense_Mutation_p.V82A|ITIH5_uc001ijr.1_Missense_Mutation_p.V296A NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 296 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CACGAATACCACATTCTTGGG 0.478000 TAF3 83860 broad.mit.edu 37 10 8005989 8005989 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:8005989T>C uc010qbd.1 + 3 516 c.516T>C c.(514-516)GAT>GAC p.D172D NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 172 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TTATTAATGATGAGAATTTCC 0.493000 GATA3 2625 broad.mit.edu 37 10 8100708 8100708 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:8100708G>A uc001ika.2 + 3 1239 c.682G>A c.(682-684)GAG>AAG p.E228K GATA3_uc001ijz.2_Missense_Mutation_p.E228K NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 228 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CTACGTGCCCGAGTACAGCTC 0.692000 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) KIAA1217 56243 broad.mit.edu 37 10 24831889 24831889 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:24831889A>C uc001iru.3 + 19 4093 c.3690A>C c.(3688-3690)TCA>TCC p.S1230S KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.S913S|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.S66S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1230 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CTGATGCATCAAGAACATCAG 0.423000 ARHGAP21 57584 broad.mit.edu 37 10 24874300 24874300 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:24874300C>T uc001isb.2 - 26 5405 c.4918G>A c.(4918-4920)GAG>AAG p.E1640K ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1639 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 ACGGGAAACTCGCTCTCGCTG 0.547000 GPR158 57512 broad.mit.edu 37 10 25464572 25464572 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:25464572G>T uc001isj.2 + 1 283 c.223G>T c.(223-225)GCC>TCC p.A75S LOC100128811_uc010qde.1_Intron NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 75 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GCAGAAACTCGCCGAGGAGGT 0.687000 NRP1 8829 broad.mit.edu 37 10 33475257 33475257 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:33475257C>T uc001iwx.3 - 14 2745 c.2222G>A c.(2221-2223)CGC>CAC p.R741H NRP1_uc001iwv.3_Missense_Mutation_p.R741H|NRP1_uc009xlz.2_Missense_Mutation_p.R735H|NRP1_uc001iww.3_Missense_Mutation_p.R553H|NRP1_uc001iwy.3_Missense_Mutation_p.R734H NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 741 Extracellular (Potential).|MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CTTCTGGTAGCGCAGTTTGAC 0.562000 A1CF 29974 broad.mit.edu 37 10 52596039 52596039 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:52596039C>T uc001jjj.2 - 6 587 c.399G>A c.(397-399)GTG>GTA p.V133V A1CF_uc010qhn.1_Silent_p.V141V|A1CF_uc001jji.2_Silent_p.V133V|A1CF_uc001jjh.2_Silent_p.V141V|A1CF_uc010qho.1_Silent_p.V141V|A1CF_uc009xov.2_Silent_p.V133V NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 133 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 GGCAGTTGTCCACACTGGCAC 0.428000 BICC1 80114 broad.mit.edu 37 10 60588642 60588642 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:60588642C>T uc001jki.1 + 21 2916 c.2916C>T c.(2914-2916)GGC>GGT p.G972G NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 972 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GTGTCAGTGGCCGCTGGTAGC 0.527000 CCDC6 8030 broad.mit.edu 37 10 61574410 61574410 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:61574410C>T uc001jks.3 - 4 1322 c.686G>A c.(685-687)CGA>CAA p.R229Q NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 229 5.|5 X 29 AA tandem repeats.|Potential. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) CTAAACAAACCGCTTTTCAGC 0.378000 ANK3 288 broad.mit.edu 37 10 61965576 61965576 + Missense_Mutation SNP C C T rs139379111 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:61965576C>T uc001jky.2 - 11 1459 c.1267G>A c.(1267-1269)GGT>AGT p.G423S ANK3_uc010qih.1_Missense_Mutation_p.G406S|ANK3_uc001jkz.3_Missense_Mutation_p.G417S|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.G84S NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 423 ANK 11. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATGGATGCACCGTGTTTCAGA 0.393000 HK1 3098 broad.mit.edu 37 10 71128991 71128991 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:71128991A>G uc001jpl.3 + 6 693 c.592_splice c.e6-2 p.D198_splice HK1_uc001jpg.3_Splice_Site_p.D186_splice|HK1_uc001jph.3_Splice_Site_p.D202_splice|HK1_uc001jpi.3_Splice_Site_p.D202_splice|HK1_uc001jpj.3_Splice_Site_p.D233_splice|HK1_uc001jpk.3_Splice_Site_p.D197_splice|HK1_uc009xqd.2_Splice_Site_p.D76_splice NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 ATCTGTCCCCAGGACTATGAT 0.532000 SPOCK2 9806 broad.mit.edu 37 10 73848012 73848012 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:73848012G>A uc001jso.1 - 1 520 c.75C>T c.(73-75)GAC>GAT p.D25D SPOCK2_uc001jsp.2_Silent_p.D25D|SPOCK2_uc010qjs.1_Silent_p.D25D|SPOCK2_uc010qjt.1_Silent_p.D25D NM_014767 NP_055582 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains 25 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding 0 GCCCCTTGGCGTCGCCTTCGG 0.692000 BTAF1 9044 broad.mit.edu 37 10 93719750 93719750 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:93719750C>T uc001khr.2 + 11 1200 c.1102C>T c.(1102-1104)CGT>TGT p.R368C BTAF1_uc001khs.1_Missense_Mutation_p.R38C NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 368 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) GGCACCAGTTCGTGAAACTTG 0.368000 PIK3AP1 118788 broad.mit.edu 37 10 98469729 98469729 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:98469729C>A uc001kmq.2 - 2 153 c.25G>T c.(25-27)GGA>TGA p.G9* NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 9 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ATGTCGCATCCTCTGGGCACC 0.587000 LOXL4 84171 broad.mit.edu 37 10 100022589 100022589 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:100022589G>A uc001kpa.1 - 2 339 c.188C>T c.(187-189)GCT>GTT p.A63V NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 63 SRCR 1. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CTCCTGGATAGCAAAGTTGTC 0.647000 OREG0020428 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM180 79847 broad.mit.edu 37 10 104233735 104233735 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:104233735G>A uc001kvt.2 + 9 1476 c.1257G>A c.(1255-1257)CCG>CCA p.P419P TMEM180_uc010qql.1_Silent_p.P148P|TMEM180_uc010qqm.1_Silent_p.P268P NM_024789 NP_079065 Q14CX5 TM180_HUMAN transmembrane protein 180 419 Helical; (Potential). integral to membrane ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCTTTGCCCCGCTGCTGGGCA 0.622000 C10orf26 54838 broad.mit.edu 37 10 104572451 104572451 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:104572451A>T uc001kwe.3 + 4 652 c.392A>T c.(391-393)CAG>CTG p.Q131L C10orf26_uc001kwf.3_Missense_Mutation_p.Q152L|C10orf26_uc009xxg.1_Intron NM_017787 NP_060257 Q9NX94 OPA1L_HUMAN hypothetical protein LOC54838 isoform 2 131 Pro-rich. integral to membrane central_nervous_system(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGCAGCAGCAGCTGCTGCCT 0.607000 SORCS3 22986 broad.mit.edu 37 10 106899179 106899179 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:106899179T>C uc001kyi.1 + 8 1464 c.1237T>C c.(1237-1239)TAC>CAC p.Y413H NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 413 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAGAGCCAGCTACTACGTGTC 0.483000 SMC3 9126 broad.mit.edu 37 10 112361533 112361533 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:112361533G>A uc001kze.2 + 24 2909 c.2783G>A c.(2782-2784)CGG>CAG p.R928Q NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 928 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATGACAAATCGGCAAGGCATG 0.388000 ABLIM1 3983 broad.mit.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T rs138272125 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:116203811C>T uc010qsg.1 - 17 2009 c.1910G>A c.(1909-1911)CGC>CAC p.R637H ABLIM1_uc010qsh.1_Missense_Mutation_p.R605H|ABLIM1_uc010qsi.1_Missense_Mutation_p.R577H|ABLIM1_uc010qsk.1_Missense_Mutation_p.R514H|ABLIM1_uc009xyp.2_Missense_Mutation_p.R601H|ABLIM1_uc010qsf.1_Missense_Mutation_p.R314H|ABLIM1_uc009xyn.2_Missense_Mutation_p.R253H|ABLIM1_uc010qsj.1_Missense_Mutation_p.R232H|ABLIM1_uc009xyo.2_Missense_Mutation_p.R450H NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 637 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) AGAATCGTAGCGACTGGCTAA 0.493000 PRLHR 2834 broad.mit.edu 37 10 120353838 120353838 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:120353838C>T uc001ldp.1 - 2 1058 c.919G>A c.(919-921)GCC>ACC p.A307T NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 307 Extracellular (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GGGTCGATGGCGTGGGGGTCG 0.647000 BAG3 9531 broad.mit.edu 37 10 121431767 121431767 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:121431767C>T uc001lem.2 + 3 814 c.508C>T c.(508-510)CGG>TGG p.R170W BAG3_uc001lel.2_Missense_Mutation_p.R170W NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 170 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) TCTCTTGCAGCGGTCCCAGTC 0.637000 C10orf119 79892 broad.mit.edu 37 10 121607133 121607133 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:121607133A>G uc001ler.2 - 8 1117 c.819T>C c.(817-819)AAT>AAC p.N273N C10orf119_uc001leq.1_Silent_p.N100N|C10orf119_uc001les.1_Silent_p.N100N|C10orf119_uc001let.1_Silent_p.N100N NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 273 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) ACCTTTCATCATTATTCAGTA 0.264000 PLEKHA1 59338 broad.mit.edu 37 10 124172489 124172489 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:124172489T>C uc001lge.1 + 6 519 c.396T>C c.(394-396)GGT>GGC p.G132G PLEKHA1_uc001lgf.1_Silent_p.G132G|PLEKHA1_uc001lgg.1_Silent_p.G132G|PLEKHA1_uc001lgh.2_Silent_p.G132G NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 132 B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCGCCATGGTGAATGTGGGA 0.383000 ADAM12 8038 broad.mit.edu 37 10 127787041 127787041 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:127787041C>A uc001ljk.2 - 10 1362 c.949G>T c.(949-951)GGC>TGC p.G317C ADAM12_uc010qul.1_Missense_Mutation_p.G268C|ADAM12_uc001ljm.2_Missense_Mutation_p.G317C|ADAM12_uc001ljn.2_Missense_Mutation_p.G314C|ADAM12_uc001ljl.3_Missense_Mutation_p.G314C NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 317 Extracellular (Potential).|Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GGGGCCATGCCGATGGTGGTC 0.453000 DOCK1 1793 broad.mit.edu 37 10 128904520 128904520 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:128904520C>T uc001ljt.2 + 24 2472 c.2408C>T c.(2407-2409)ACG>ATG p.T803M DOCK1_uc010qun.1_Missense_Mutation_p.T824M NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 803 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TACTTACCAACGATCGTCAAC 0.473000 MKI67 4288 broad.mit.edu 37 10 129901620 129901620 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:129901620T>C uc001lke.2 - 13 8679 c.8484A>G c.(8482-8484)TCA>TCG p.S2828S MKI67_uc001lkf.2_Silent_p.S2468S|MKI67_uc009yav.1_Silent_p.S2403S|MKI67_uc009yaw.1_Silent_p.S1978S NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2828 16 X 122 AA approximate repeats.|16. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTAGTTCTGGTGATGATTTGC 0.483000 B4GALNT4 338707 broad.mit.edu 37 11 379551 379551 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:379551C>T uc001lpb.2 + 15 2347 c.2338C>T c.(2338-2340)CGG>TGG p.R780W NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 780 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGTCTTCCTGCGGCTGCCGGG 0.751000 PHRF1 57661 broad.mit.edu 37 11 605238 605238 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:605238G>A uc001lqe.2 + 11 1403 c.1272G>A c.(1270-1272)GCG>GCA p.A424A PHRF1_uc010qwc.1_Silent_p.A424A|PHRF1_uc010qwd.1_Silent_p.A423A|PHRF1_uc010qwe.1_Silent_p.A420A|PHRF1_uc009ybz.1_Silent_p.A215A|PHRF1_uc009yca.1_5'Flank NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 424 RNA polymerase binding|zinc ion binding 0 TGCTGAGAGCGGATATTGGAG 0.602000 DEAF1 10522 broad.mit.edu 37 11 674759 674759 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:674759G>A uc001lqq.1 - 10 1973 c.1280C>T c.(1279-1281)GCG>GTG p.A427V DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 427 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GGGTGGGACCGCCAGCGCAGG 0.532000 LRDD 55367 broad.mit.edu 37 11 802748 802748 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:802748C>T uc001lro.1 - 4 995 c.853G>A c.(853-855)GCC>ACC p.A285T LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.A285T|LRDD_uc001lrl.1_Missense_Mutation_p.A139T|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Missense_Mutation_p.A139T|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 285 LRR 7. apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAAAGGGGGCGTCTAGCAGC 0.677000 CTSD 1509 broad.mit.edu 37 11 1778593 1778593 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:1778593T>C uc001luc.1 - 5 798 c.665A>G c.(664-666)AAG>AGG p.K222R CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 222 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTCCACCAGCTTCTGCTGCAT 0.627000 OR52D1 390066 broad.mit.edu 37 11 5510100 5510100 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:5510100A>G uc010qzg.1 + 1 164 c.164A>G c.(163-165)GAC>GGC p.D55G HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGCCATGGACAATGCTCTT 0.527000 PRKCDBP 112464 broad.mit.edu 37 11 6340571 6340571 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:6340571G>A uc001mcu.1 - 2 642 c.608C>T c.(607-609)CCG>CTG p.P203L NM_145040 NP_659477 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 203 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGGGTGGGCGGTGGCGCTGC 0.731000 TEAD1 7003 broad.mit.edu 37 11 12785940 12785940 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:12785940G>A uc001mkj.3 + 3 781 c.116G>A c.(115-117)GGG>GAG p.G39E NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 54 TEA. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCACCATGTGGGAGGAGGAAA 0.488000 COPB1 1315 broad.mit.edu 37 11 14501184 14501184 + Missense_Mutation SNP C C T rs145451352 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:14501184C>T uc001mli.2 - 11 1596 c.1289G>A c.(1288-1290)CGC>CAC p.R430H COPB1_uc001mlg.2_Missense_Mutation_p.R430H|COPB1_uc001mlh.2_Missense_Mutation_p.R430H NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 430 HEAT 6. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GTTATCAAAGCGCTGAATGGC 0.343000 LUZP2 338645 broad.mit.edu 37 11 24998139 24998139 + Silent SNP G G A rs148359334 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:24998139G>A uc001mqs.2 + 8 759 c.525G>A c.(523-525)GCG>GCA p.A175A LUZP2_uc009yif.2_Silent_p.A89A|LUZP2_uc009yig.2_Silent_p.A133A NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 175 Potential.|Leucine-zipper. extracellular region p.A175G(1) ovary(1)|skin(1) 2 TTTTACAGGCGCAGCAGCTTA 0.358000 DCDC1 341019 broad.mit.edu 37 11 31327259 31327259 + Silent SNP G G A rs147472755 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:31327259G>A uc001msv.2 - 6 859 c.657C>T c.(655-657)GAC>GAT p.D219D DCDC1_uc001msu.1_Translation_Start_Site NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 219 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTTCCTTGCCGTCTGCCAAGA 0.438000 HIPK3 10114 broad.mit.edu 37 11 33373380 33373380 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:33373380G>A uc001mul.1 + 15 3304 c.3034G>A c.(3034-3036)GCA>ACA p.A1012T HIPK3_uc001mum.1_Missense_Mutation_p.A991T|HIPK3_uc009yjv.1_Missense_Mutation_p.A991T NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 1012 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TGAGCATATGGCAAACACAGG 0.438000 ALX4 60529 broad.mit.edu 37 11 44331484 44331484 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:44331484G>A uc001myb.2 - 1 233 c.129C>T c.(127-129)TTC>TTT p.F43F NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 43 hair follicle development 0 AAGTTGTGCCGAACTTGTCGC 0.682000 LRP4 4038 broad.mit.edu 37 11 46907918 46907918 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:46907918A>G uc001ndn.3 - 17 2528 c.2382T>C c.(2380-2382)ACT>ACC p.T794T NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 794 Extracellular (Potential).|LDL-receptor class B 6. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TGATGGTATCAGTGCTGACAT 0.597000 KBTBD4 55709 broad.mit.edu 37 11 47598987 47598987 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:47598987G>A uc001nfx.2 - 2 736 c.565C>T c.(565-567)CGC>TGC p.R189C NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.R214C|KBTBD4_uc001nfz.2_Missense_Mutation_p.R205C|KBTBD4_uc001nfy.2_Missense_Mutation_p.R189C|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 189 BACK. ovary(1)|central_nervous_system(1) 2 GTGAGTAAGCGGTGGGGCAAG 0.502000 OR5L1 219437 broad.mit.edu 37 11 55579083 55579083 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:55579083A>G uc001nhw.1 + 1 141 c.141A>G c.(139-141)GCA>GCG p.A47A NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 47 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GCATGATTGCACTGATTCAGG 0.483000 OR8I2 120586 broad.mit.edu 37 11 55861366 55861366 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:55861366G>A uc010rix.1 + 1 583 c.583G>A c.(583-585)GAA>AAA p.E195K NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ATTCGGCACAGAAATGGTGAG 0.428000 DTX4 23220 broad.mit.edu 37 11 58949756 58949756 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:58949756C>T uc001nns.2 + 2 1013 c.756C>T c.(754-756)ACC>ACT p.T252T DTX4_uc001nnr.2_Silent_p.T146T NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 252 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CACTGAAGACCGCCCCATCGC 0.637000 AHNAK 79026 broad.mit.edu 37 11 62291883 62291883 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:62291883C>T uc001ntl.2 - 5 10306 c.10006G>A c.(10006-10008)GTT>ATT p.V3336I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3336 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGACCGGAAACGTCCACTTCT 0.433000 TUT1 64852 broad.mit.edu 37 11 62343652 62343652 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:62343652G>T uc001nto.2 - 9 1691 c.1653C>A c.(1651-1653)TCC>TCA p.S551S EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Silent_p.S47S NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 513 PAP-associated. mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 CCTCCCGCAGGGACAGCAGGG 0.617000 NRXN2 9379 broad.mit.edu 37 11 64410147 64410147 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:64410147C>A uc001oap.2 - 2 640 c.129G>T c.(127-129)TTG>TTT p.L43F NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 43 cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCcagcagcaacagcagca 0.388000 ATG2A 23130 broad.mit.edu 37 11 64681811 64681811 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:64681811T>C uc001obx.2 - 2 448 c.333A>G c.(331-333)CCA>CCG p.P111P ATG2A_uc010rnt.1_Silent_p.P111P NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 111 protein binding ovary(1)|central_nervous_system(1) 2 TGCCCTCACCTGGACCCCGGC 0.706000 PPP2R5B 5526 broad.mit.edu 37 11 64699315 64699315 + Missense_Mutation SNP G G A rs141499148 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:64699315G>A uc001oby.2 + 11 1676 c.1091G>A c.(1090-1092)CGC>CAC p.R364H PPP2R5B_uc001obz.2_Missense_Mutation_p.R364H NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 364 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CAGGTGGCTCGCTGTGTTTCC 0.557000 EFEMP2 30008 broad.mit.edu 37 11 65637701 65637701 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:65637701G>A uc001ofy.3 - 6 692 c.498C>T c.(496-498)GAC>GAT p.D166D EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.D166D NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 166 EGF-like 3; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) AGCGGCACTCGTCTATGTCTA 0.657000 KDM2A 22992 broad.mit.edu 37 11 66999252 66999252 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:66999252C>T uc001ojw.2 + 12 2164 c.1300C>T c.(1300-1302)CAC>TAC p.H434Y KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.H128Y NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 CCGGGGCTCCCACAATGGACA 0.522000 SSH3 54961 broad.mit.edu 37 11 67076990 67076990 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:67076990C>T uc001okj.2 + 11 1362 c.1184C>T c.(1183-1185)ACG>ATG p.T395M SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.T249M NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 395 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGGAAGGAGACGCACCGCTTC 0.637000 LRP5 4041 broad.mit.edu 37 11 68216313 68216313 + Silent SNP G G A rs139974816 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:68216313G>A uc001ont.2 + 23 4698 c.4623G>A c.(4621-4623)ACG>ACA p.T1541T LRP5_uc009ysg.2_Silent_p.T951T NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1541 PPPSP motif B.|Cytoplasmic (Potential).|Pro-rich. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CCCCGACGACGCCCTGCAGCA 0.612000 CPT1A 1374 broad.mit.edu 37 11 68579964 68579964 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:68579964G>A uc001oog.3 - 3 392 c.222C>T c.(220-222)TAC>TAT p.Y74Y CPT1A_uc001oof.3_Silent_p.Y74Y|CPT1A_uc009ysj.2_Silent_p.Y74Y NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 74 Mitochondrial intermembrane (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CGATCTTGGCGTACATCGTTG 0.512000 P2RY2 5029 broad.mit.edu 37 11 72945613 72945613 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:72945613C>T uc001otj.2 + 3 742 c.409C>T c.(409-411)CGA>TGA p.R137* P2RY2_uc001otk.2_Nonsense_Mutation_p.R137*|P2RY2_uc001otl.2_Nonsense_Mutation_p.R137* NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 137 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.R137Q(1) ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) GGGCGTCTTACGACCTCTGCG 0.672000 ARHGEF17 9828 broad.mit.edu 37 11 73073593 73073593 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:73073593C>T uc001otu.2 + 14 4831 c.4810C>T c.(4810-4812)CCG>TCG p.P1604S NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1604 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GGAGCCGGGGCCGCAGCCCTG 0.721000 C2CD3 26005 broad.mit.edu 37 11 73760408 73760408 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:73760408G>A uc001ouu.2 - 27 5562 c.5335C>T c.(5335-5337)CGT>TGT p.R1779C C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1779 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCCACTCCACGCCTTGCTTGC 0.438000 DLG2 1740 broad.mit.edu 37 11 83673939 83673939 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:83673939G>A uc001paj.2 - 9 1317 c.1014C>T c.(1012-1014)GAC>GAT p.D338D DLG2_uc001pai.2_Silent_p.D287D|DLG2_uc010rsy.1_Silent_p.D305D|DLG2_uc010rsz.1_Silent_p.D338D|DLG2_uc010rta.1_Silent_p.D338D|DLG2_uc001pak.2_Silent_p.D443D|DLG2_uc010rtb.1_Silent_p.D305D|DLG2_uc001pal.1_Silent_p.D338D|DLG2_uc001pam.1_Silent_p.D377D NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 338 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGGTGTAGTCGTCGTCAACAA 0.428000 DLG2 1740 broad.mit.edu 37 11 84996295 84996295 + Missense_Mutation SNP G G A rs148579957 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:84996295G>A uc001pak.2 - 4 467 c.155C>T c.(154-156)CCG>CTG p.P52L NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 Error:Variant_position_missing_in_Q15700_after_alignment cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTCATGGCACGGAGCAAGAAG 0.378000 FZD4 8322 broad.mit.edu 37 11 86662986 86662986 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:86662986A>G uc001pce.2 - 2 1118 c.812T>C c.(811-813)GTC>GCC p.V271A PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 271 Helical; Name=2; (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGTCAGCCTGACAATATAAGC 0.428000 FAT3 120114 broad.mit.edu 37 11 92257897 92257897 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:92257897C>A uc001pdj.3 + 2 3407 c.3390C>A c.(3388-3390)TCC>TCA p.S1130S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1130 Cadherin 10.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CACTCTACTCCACCATTGAGG 0.483000 TCGA Ovarian(4;0.039) PANX1 24145 broad.mit.edu 37 11 93912967 93912967 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:93912967A>G uc001per.2 + 4 1130 c.745A>G c.(745-747)AAA>GAA p.K249E PANX1_uc001peq.2_Missense_Mutation_p.K249E NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 249 Extracellular (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTGCAGCATCAAATCAGGGAT 0.498000 GUCY1A2 2977 broad.mit.edu 37 11 106681137 106681137 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:106681137G>A uc001pjg.1 - 5 1664 c.1274C>T c.(1273-1275)CCA>CTA p.P425L GUCY1A2_uc010rvo.1_Missense_Mutation_p.P446L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.P425L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 425 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTCCACACATGGAGAGCCCAA 0.433000 CADM1 23705 broad.mit.edu 37 11 115102133 115102133 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:115102133C>T uc001ppi.3 - 4 631 c.502G>A c.(502-504)GCT>ACT p.A168T CADM1_uc001ppf.3_Missense_Mutation_p.A168T|CADM1_uc001ppk.3_Missense_Mutation_p.A168T|CADM1_uc001ppj.3_Missense_Mutation_p.A168T|CADM1_uc001ppl.2_Missense_Mutation_p.A168T NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 168 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CTGGCCATAGCAGTGCAGTTG 0.463000 RNF214 257160 broad.mit.edu 37 11 117152789 117152789 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:117152789C>A uc001pqt.2 + 11 1560 c.1515C>A c.(1513-1515)GGC>GGA p.G505G RNF214_uc001pqu.2_Silent_p.G505G|RNF214_uc010rxf.1_Silent_p.G350G NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 505 Pro-rich. zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CCCTTCCTGGCTCCCATGGCA 0.642000 NLRX1 79671 broad.mit.edu 37 11 119053036 119053036 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:119053036C>A uc001pvu.2 + 9 2803 c.2588C>A c.(2587-2589)CCT>CAT p.P863H NLRX1_uc001pvv.2_Missense_Mutation_p.P863H|NLRX1_uc001pvw.2_Missense_Mutation_p.P863H|NLRX1_uc001pvx.2_Missense_Mutation_p.P863H NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 863 LRR 7.|Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CGGGAGCACCCTTCCCTGGAA 0.637000 USP2 9099 broad.mit.edu 37 11 119243941 119243941 + Missense_Mutation SNP C C T rs113893557 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:119243941C>T uc001pwm.3 - 2 545 c.250G>A c.(250-252)GAC>AAC p.D84N USP2_uc001pwn.3_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 84 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CCAGTGATGTCGGGTCTCAGC 0.662000 SORL1 6653 broad.mit.edu 37 11 121367679 121367679 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:121367679G>A uc001pxx.2 + 6 940 c.860G>A c.(859-861)CGG>CAG p.R287Q NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 287 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTCCAGTCCCGGGAAAACCAG 0.438000 BSX 390259 broad.mit.edu 37 11 122849972 122849972 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:122849972C>T uc010rzs.1 - 2 456 c.456G>A c.(454-456)ACG>ACA p.T152T NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 152 Homeobox. 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGCCCACCTGCGTCTCGGACA 0.592000 ST14 6768 broad.mit.edu 37 11 130078396 130078396 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:130078396C>T uc001qfw.2 + 17 2279 c.2086C>T c.(2086-2088)CGC>TGC p.R696C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 696 Extracellular (Potential).|Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CAGGCTCAAGCGCATCATCTC 0.632000 OPCML 4978 broad.mit.edu 37 11 132399028 132399028 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:132399028G>A uc001qgs.2 - 3 503 c.453C>T c.(451-453)AGC>AGT p.S151S OPCML_uc001qgu.2_Silent_p.S144S|OPCML_uc010sck.1_Silent_p.S151S|OPCML_uc001qgt.2_Silent_p.S151S|OPCML_uc010scl.1_Silent_p.S110S NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 151 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGGTCACACTGCTTCCCTCAT 0.468000 WNK1 65125 broad.mit.edu 37 12 992975 992975 + Silent SNP G G A rs147752204 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:992975G>A uc001qio.3 + 17 4206 c.3699G>A c.(3697-3699)GCG>GCA p.A1233A WNK1_uc001qip.3_Silent_p.A986A|WNK1_uc001qir.3_Silent_p.A406A NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1233 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAATTCCTGCGTCTTCCATGC 0.299000 CACNA1C 775 broad.mit.edu 37 12 2714868 2714868 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:2714868C>T uc009zdu.1 + 25 3445 c.3132C>T c.(3130-3132)GTC>GTT p.V1044V CACNA1C_uc009zdv.1_Silent_p.V1021V|CACNA1C_uc001qkb.2_Silent_p.V1024V|CACNA1C_uc001qkc.2_Silent_p.V1024V|CACNA1C_uc001qke.2_Silent_p.V1024V|CACNA1C_uc001qkf.2_Silent_p.V1024V|CACNA1C_uc001qjz.2_Silent_p.V1024V|CACNA1C_uc001qkd.2_Silent_p.V1024V|CACNA1C_uc001qkg.2_Silent_p.V1024V|CACNA1C_uc009zdw.1_Silent_p.V1024V|CACNA1C_uc001qkh.2_Silent_p.V1024V|CACNA1C_uc001qkl.2_Silent_p.V1044V|CACNA1C_uc001qkn.2_Silent_p.V1024V|CACNA1C_uc001qko.2_Silent_p.V1044V|CACNA1C_uc001qkp.2_Silent_p.V1024V|CACNA1C_uc001qkr.2_Silent_p.V1024V|CACNA1C_uc001qku.2_Silent_p.V1024V|CACNA1C_uc001qkq.2_Silent_p.V1024V|CACNA1C_uc001qks.2_Silent_p.V1024V|CACNA1C_uc001qkt.2_Silent_p.V1024V|CACNA1C_uc001qka.1_Silent_p.V559V|CACNA1C_uc001qki.1_Silent_p.V760V|CACNA1C_uc001qkj.1_Silent_p.V760V|CACNA1C_uc001qkk.1_Silent_p.V760V|CACNA1C_uc001qkm.1_Silent_p.V760V NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1044 Cytoplasmic (Potential).|III. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTGTGTTTGTCGCCATCCGGA 0.587000 PRMT8 56341 broad.mit.edu 37 12 3678670 3678670 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:3678670C>T uc001qmf.2 + 6 1019 c.652C>T c.(652-654)CGG>TGG p.R218W PRMT8_uc009zed.2_Missense_Mutation_p.R209W|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.R32W NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 218 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GTTTCCAGACCGGGCAGCTTT 0.473000 KCNA5 3741 broad.mit.edu 37 12 5154173 5154173 + Missense_Mutation SNP C C T rs144246051 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:5154173C>T uc001qni.2 + 1 1089 c.860C>T c.(859-861)GCG>GTG p.A287V NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 287 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CACCCTCCGGCGCCCCACCAG 0.682000 PLEKHG6 55200 broad.mit.edu 37 12 6421413 6421413 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:6421413A>C uc001qnr.2 + 2 169 c.21A>C c.(19-21)CCA>CCC p.P7P PLEKHG6_uc001qns.2_Silent_p.P7P|PLEKHG6_uc010sew.1_Silent_p.P7P|PLEKHG6_uc010sex.1_5'Flank NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 7 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 TTGGTCCTCCACATGAGGGCC 0.592000 IFFO1 25900 broad.mit.edu 37 12 6660145 6660145 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:6660145G>A uc001qpd.1 - 2 830 c.796C>T c.(796-798)CGG>TGG p.R266W IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.R266W|IFFO1_uc001qpf.1_Missense_Mutation_p.R266W|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.R266W|IFFO1_uc001qpg.2_5'Flank NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 266 Potential. intermediate filament 0 AGCTGGATCCGCACCGTGTAC 0.622000 CD4 920 broad.mit.edu 37 12 6923379 6923379 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:6923379A>G uc001qqv.1 + 4 531 c.286A>G c.(286-288)ATC>GTC p.I96V CD4_uc009zez.1_Missense_Mutation_p.I41V|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 96 Extracellular (Potential).|Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) TCCCCTGATCATCAAGAATCT 0.498000 C1R 715 broad.mit.edu 37 12 7244123 7244123 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:7244123C>A uc010sfy.1 - 2 215 c.156G>T c.(154-156)ACG>ACT p.T52T C1R_uc010sfz.1_Silent_p.T66T|C1R_uc010sga.1_Silent_p.T52T NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 52 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCTGTATCCCGTGGGGACTG 0.532000 KLRF1 51348 broad.mit.edu 37 12 9994990 9994990 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:9994990T>C uc010sgw.1 + 6 609 c.545T>C c.(544-546)ATG>ACG p.M182T KLRF1_uc009zgw.2_Missense_Mutation_p.M133T|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 183 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 TCCTTGAAAATGACATGGACT 0.358000 CLEC2B 9976 broad.mit.edu 37 12 10010106 10010106 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:10010106G>A uc001qwn.2 - 3 861 c.204C>T c.(202-204)GCC>GCT p.A68A NM_005127 NP_005118 Q92478 CLC2B_HUMAN C-type lectin, superfamily member 2 68 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding 0 TAGTTAGGTCGGCATGTTGAG 0.328000 DUSP16 80824 broad.mit.edu 37 12 12630269 12630269 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:12630269A>G uc001rao.1 - 7 2128 c.1496T>C c.(1495-1497)CTT>CCT p.L499P DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.L351P NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 499 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) TGGAGATAAAAGGGACCTCTG 0.577000 KRAS 3845 broad.mit.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:25398281C>T uc001rgp.1 - 2 219 c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTTGCCTACGCCACCAGCTCC 0.338000 G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) C12orf11 55726 broad.mit.edu 37 12 27077371 27077371 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:27077371G>A uc001rhk.3 - 7 1258 c.721C>T c.(721-723)CGG>TGG p.R241W C12orf11_uc010sjk.1_Missense_Mutation_p.R140W NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 241 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GCAAGATGCCGTCCTGCACGA 0.348000 FGFR1OP2 26127 broad.mit.edu 37 12 27113541 27113541 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:27113541C>T uc001rhm.2 + 5 832 c.490C>T c.(490-492)CAC>TAC p.H164Y FGFR1OP2_uc001rhl.2_Missense_Mutation_p.H164Y|FGFR1OP2_uc001rhn.2_Intron NM_015633 NP_056448 Q9NVK5 FGOP2_HUMAN FGFR1 oncogene partner 2 164 Potential. cytoplasm 0 Colorectal(261;0.0847) GGAGAGAAGGCACTTGGAAGC 0.423000 DENND5B 160518 broad.mit.edu 37 12 31632813 31632813 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:31632813T>C uc001rki.1 - 3 800 c.614A>G c.(613-615)AAG>AGG p.K205R DENND5B_uc001rkh.1_Missense_Mutation_p.K240R|DENND5B_uc009zjq.1_Missense_Mutation_p.K124R|DENND5B_uc001rkj.2_Missense_Mutation_p.K227R|DENND5B_uc001rkk.1_Missense_Mutation_p.K127R NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 205 DENN. integral to membrane ovary(1)|central_nervous_system(1) 2 AAGGAATTTCTTGCAGGCCTG 0.423000 BICD1 636 broad.mit.edu 37 12 32481022 32481022 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:32481022C>T uc001rku.2 + 5 1714 c.1633C>T c.(1633-1635)CGC>TGC p.R545C BICD1_uc001rkv.2_Missense_Mutation_p.R545C|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 545 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CAGAGTCACCCGCAGTGGCAG 0.527000 AMIGO2 347902 broad.mit.edu 37 12 47471413 47471413 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:47471413C>T uc001rpm.2 - 3 2028 c.1373G>A c.(1372-1374)CGG>CAG p.R458Q FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.R458Q|AMIGO2_uc001rpl.2_Missense_Mutation_p.R458Q NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 458 Cytoplasmic (Potential). heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) ACCTGCCTTCCGTTCATCAGC 0.512000 COL2A1 1280 broad.mit.edu 37 12 48378832 48378832 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:48378832C>A uc001rqu.2 - 27 1960 c.1779G>T c.(1777-1779)CAG>CAT p.Q593H COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.Q524H NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 593 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CACGAGCCCCCTGAGGACCTG 0.537000 MLL2 8085 broad.mit.edu 37 12 49418643 49418643 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:49418643C>T uc001rta.3 - 49 15871 c.15871G>A c.(15871-15873)GAG>AAG p.E5291K NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5291 FYR C-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AAGAGCTCCTCGCCCTTCAGA 0.572000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) LMBR1L 55716 broad.mit.edu 37 12 49491882 49491882 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:49491882G>A uc001rth.3 - 16 1589 c.1247C>T c.(1246-1248)ACT>ATT p.T416I LMBR1L_uc001rtg.3_Missense_Mutation_p.T411I|LMBR1L_uc001rti.3_Missense_Mutation_p.T396I NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 416 Extracellular (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 GTCAAAGCGAGTGAGCCCTGA 0.557000 OREG0021783 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DIP2B 57609 broad.mit.edu 37 12 51138528 51138528 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:51138528C>T uc001rwv.2 + 38 4793 c.4637C>T c.(4636-4638)CCG>CTG p.P1546L DIP2B_uc009zlt.2_Missense_Mutation_p.P976L NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1546 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GGTGTCATCCCGATCAACTCC 0.537000 HOXC12 3228 broad.mit.edu 37 12 54349039 54349039 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:54349039G>A uc010soq.1 + 1 326 c.326G>A c.(325-327)CGT>CAT p.R109H NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 109 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GGCCTGAAGCGTGAGGAGCGC 0.746000 ESYT1 23344 broad.mit.edu 37 12 56536156 56536156 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:56536156T>C uc001sjq.2 + 25 2730 c.2680T>C c.(2680-2682)TGG>CGG p.W894R ESYT1_uc001sjr.2_Missense_Mutation_p.W904R NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 894 integral to membrane ovary(4)|skin(1) 5 CTTGGACCGCTGGTTTACACT 0.627000 MIP 4284 broad.mit.edu 37 12 56847528 56847528 + Silent SNP C C T rs141768870 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:56847528C>T uc001slh.2 - 2 404 c.372G>A c.(370-372)GCG>GCA p.A124A NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 124 Extracellular (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 CCACGCTCACCGCAGGGTGCA 0.577000 GPR182 11318 broad.mit.edu 37 12 57389247 57389247 + Missense_Mutation SNP C C T rs146012865 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:57389247C>T uc001smk.2 + 2 348 c.254C>T c.(253-255)GCA>GTA p.A85V RDH16_uc010sqx.1_Intron NM_007264 NP_009195 O15218 GP182_HUMAN G protein-coupled receptor 182 85 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(1) 1 TCAGGCCGGGCAGGGCTGATG 0.607000 ARHGAP9 64333 broad.mit.edu 37 12 57869329 57869329 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:57869329C>T uc001sod.2 - 14 1844 c.1651G>A c.(1651-1653)GAA>AAA p.E551K ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.E277K|ARHGAP9_uc001soa.2_Missense_Mutation_p.E150K|ARHGAP9_uc001sob.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soc.2_Missense_Mutation_p.E461K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E540K NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 480 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) TCCTCTTCTTCGTCCTCCCCG 0.716000 GRIP1 23426 broad.mit.edu 37 12 66788080 66788080 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:66788080G>A uc001stk.2 - 16 2122 c.1881C>T c.(1879-1881)TAC>TAT p.Y627Y GRIP1_uc010sta.1_Silent_p.Y571Y|GRIP1_uc001stj.2_Silent_p.Y409Y|GRIP1_uc001stl.1_Silent_p.Y519Y|GRIP1_uc001stm.2_Silent_p.Y627Y NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 679 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGGGCCCCCCGTAGCGTTTAA 0.408000 PTPRB 5787 broad.mit.edu 37 12 70948992 70948992 + Silent SNP G G A rs112766507 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:70948992G>A uc001swb.3 - 18 4467 c.4437C>T c.(4435-4437)AGC>AGT p.S1479S PTPRB_uc010sto.1_Silent_p.S1389S|PTPRB_uc010stp.1_Silent_p.S1389S|PTPRB_uc001swc.3_Silent_p.S1697S|PTPRB_uc001swa.3_Silent_p.S1609S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1479 Fibronectin type-III 17.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATTGGTGTCGCTGAACCAGC 0.478000 C12orf12 196477 broad.mit.edu 37 12 91348087 91348087 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:91348087G>A uc001tbj.2 - 1 867 c.433C>T c.(433-435)CGC>TGC p.R145C NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 145 central_nervous_system(1)|pancreas(1) 2 CGGCCTCTGCGGCCCCAGCGC 0.697000 GOLGA2B 55592 broad.mit.edu 37 12 100551024 100551024 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:100551024G>A uc001tgs.2 - 5 745 c.301C>T c.(301-303)CGC>TGC p.R101C GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R101C|uc001tgv.1_5'Flank|uc001tgx.2_5'Flank NM_017600 NP_060070 golgi autoantigen, golgin subfamily a, 2-like 1 0 GGTACAGTGCGATGTACTCTC 0.622000 GNPTAB 79158 broad.mit.edu 37 12 102161840 102161840 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:102161840G>A uc001tit.2 - 11 1562 c.1383C>T c.(1381-1383)TGC>TGT p.C461C GNPTAB_uc001tiu.1_Silent_p.C461C NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 461 LNR 1. C -> G (in MLIIIA). cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 CATCCCAATCGCAGGCTGAAT 0.418000 ACACB 32 broad.mit.edu 37 12 109637206 109637206 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:109637206G>A uc001tob.2 + 18 2747 c.2628_splice c.e18-1 p.S876_splice ACACB_uc001toc.2_Splice_Site_p.S876_splice NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CTCTCTCCCAGTTACCGAATT 0.527000 TRPV4 59341 broad.mit.edu 37 12 110246248 110246248 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:110246248G>T uc001tpj.1 - 2 507 c.412C>A c.(412-414)CCT>ACT p.P138T TRPV4_uc001tpg.1_Missense_Mutation_p.P104T|TRPV4_uc001tph.1_Missense_Mutation_p.P138T|TRPV4_uc001tpi.1_Missense_Mutation_p.P138T|TRPV4_uc001tpk.1_Missense_Mutation_p.P138T|TRPV4_uc001tpl.1_Missense_Mutation_p.P138T NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 138 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TGAGGGGCAGGGGCTTTGGGG 0.657000 ARPC3 10094 broad.mit.edu 37 12 110873942 110873942 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:110873942G>A uc001tqq.2 - 6 540 c.447C>T c.(445-447)TTC>TTT p.F149F NM_005719 NP_005710 O15145 ARPC3_HUMAN actin related protein 2/3 complex subunit 3 149 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton ovary(1) 1 TCTGAGGGTCGAAAACTTTCT 0.388000 CUX2 23316 broad.mit.edu 37 12 111758076 111758076 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:111758076G>A uc001tsa.1 + 17 2416 c.2263G>A c.(2263-2265)GCG>ACG p.A755T NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 755 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CGGGGGCCCCGCGCAGGCGCC 0.736000 ATXN2 6311 broad.mit.edu 37 12 111893938 111893938 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:111893938C>T uc001tsj.2 - 23 3801 c.3639G>A c.(3637-3639)TCG>TCA p.S1213S ATXN2_uc001tsh.2_Silent_p.S948S|ATXN2_uc001tsi.2_Silent_p.S906S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.S401S|ATXN2_uc001tsl.1_Silent_p.S214S NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1213 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TATTCTGTGGCGACTGCGTGT 0.582000 WSB2 55884 broad.mit.edu 37 12 118480755 118480755 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:118480755G>A uc001twr.2 - 4 548 c.450C>T c.(448-450)TCC>TCT p.S150S WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Silent_p.S150S NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 150 intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTGGTGGCCGGAAAGATTCA 0.592000 ACADS 35 broad.mit.edu 37 12 121163699 121163699 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:121163699C>T uc001tza.3 + 1 129 c.11C>T c.(10-12)GCG>GTG p.A4V ACADS_uc010szl.1_Missense_Mutation_p.A4V NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 4 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) ATGGCCGCCGCGCTGCTCGCC 0.761000 ORAI1 84876 broad.mit.edu 37 12 122079195 122079195 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:122079195G>A uc010szz.1 + 3 745 c.552G>A c.(550-552)ACG>ACA p.T184T NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 184 Helical; (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) TCATCGGCACGCTGCTCTTCC 0.632000 LRRC43 254050 broad.mit.edu 37 12 122667814 122667814 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:122667814C>T uc009zxm.2 + 1 148 c.123C>T c.(121-123)CGC>CGT p.R41R LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 41 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGTGTCTGCGCGAGTTCCCGT 0.771000 ABCB9 23457 broad.mit.edu 37 12 123444231 123444231 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:123444231G>A uc001udm.3 - 2 862 c.552C>T c.(550-552)GAC>GAT p.D184D ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.D184D|ABCB9_uc010taj.1_Silent_p.D184D|ABCB9_uc001udp.2_Silent_p.D184D|ABCB9_uc001udq.2_Translation_Start_Site|ABCB9_uc001udr.2_Silent_p.D184D NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 184 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GGAAGGCCACGTCGGGCTTGG 0.657000 DNAH10 196385 broad.mit.edu 37 12 124359795 124359795 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:124359795G>A uc001uft.3 + 46 7627 c.7602G>A c.(7600-7602)ACG>ACA p.T2534T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2534 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AATATGGCACGCAGCAGCCCA 0.358000 DDX51 317781 broad.mit.edu 37 12 132625024 132625024 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:132625024G>A uc001ujy.3 - 11 1656 c.1617C>T c.(1615-1617)TAC>TAT p.Y539Y NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 539 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GGCCAGGCCCGTAGCGCGAGG 0.622000 XPO4 64328 broad.mit.edu 37 13 21358038 21358038 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:21358038G>A uc001unq.3 - 23 3315 c.3279C>T c.(3277-3279)GTC>GTT p.V1093V NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 1093 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GTAATGTTTCGACCAGTTCAG 0.413000 PAN3 255967 broad.mit.edu 37 13 28855473 28855473 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:28855473T>A uc001urz.2 + 16 1911 c.1903T>A c.(1903-1905)TTT>ATT p.F635I PAN3_uc001ury.2_Missense_Mutation_p.F469I|PAN3_uc001urx.2_Missense_Mutation_p.F581I NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 781 Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TGGAAGACTGTTTAGGCTCCT 0.308000 NBEA 26960 broad.mit.edu 37 13 36202305 36202305 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:36202305C>T uc001uvb.2 + 49 7743 c.7537C>T c.(7537-7539)CGT>TGT p.R2513C NBEA_uc010abi.2_Missense_Mutation_p.R1169C|NBEA_uc010tee.1_Missense_Mutation_p.R306C|NBEA_uc010tef.1_Missense_Mutation_p.R306C|NBEA_uc010teg.1_Missense_Mutation_p.R306C|NBEA_uc001uvd.2_Missense_Mutation_p.R70C NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2513 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGAAGCAGTTCGTGCTCTGAA 0.433000 FREM2 341640 broad.mit.edu 37 13 39448644 39448644 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:39448644C>T uc001uwv.2 + 18 8511 c.8202C>T c.(8200-8202)CGC>CGT p.R2734R NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2734 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCAGCATGCGCATCGGTGATG 0.468000 AKAP11 11215 broad.mit.edu 37 13 42874908 42874908 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:42874908T>G uc001uys.1 + 8 2201 c.2026T>G c.(2026-2028)TGT>GGT p.C676G NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 676 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATCTCCACAGTGTGGGTCGTT 0.413000 MLNR 2862 broad.mit.edu 37 13 49795274 49795274 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:49795274C>T uc010tgj.1 + 1 801 c.801C>T c.(799-801)TAC>TAT p.Y267Y NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 267 Helical; Name=5; (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) GCATCCTCTACGGGCTCATCG 0.726000 PCDH17 27253 broad.mit.edu 37 13 58208087 58208087 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:58208087G>A uc001vhq.1 + 1 2299 c.1407G>A c.(1405-1407)CCG>CCA p.P469P PCDH17_uc010aec.1_Silent_p.P469P NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 469 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACGACAACCCGCCTCGGTTCA 0.612000 PCDH9 5101 broad.mit.edu 37 13 67802376 67802376 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:67802376A>C uc001vik.2 - 2 889 c.197T>G c.(196-198)CTG>CGG p.L66R PCDH9_uc001vil.2_Missense_Mutation_p.L66R|PCDH9_uc010thl.1_Missense_Mutation_p.L66R|PCDH9_uc001vin.3_Missense_Mutation_p.L66R NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 66 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTTAGAAACCAGTCTGTAGAC 0.468000 MYCBP2 23077 broad.mit.edu 37 13 77672167 77672167 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:77672167T>C uc001vkf.2 - 57 9099 c.9008A>G c.(9007-9009)CAT>CGT p.H3003R MYCBP2_uc010aev.2_Missense_Mutation_p.H2407R|MYCBP2_uc001vkg.1_Missense_Mutation_p.H526R|MYCBP2_uc010aew.2_Missense_Mutation_p.H389R NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3003 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TATGCCTTCATGCCAGAGGAA 0.448000 MYCBP2 23077 broad.mit.edu 37 13 77755995 77755995 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:77755995A>T uc001vkf.2 - 34 4759 c.4668T>A c.(4666-4668)GCT>GCA p.A1556A MYCBP2_uc010aev.2_Silent_p.A960A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGTGACACAGAGCTGACATAA 0.403000 GPC5 2262 broad.mit.edu 37 13 92560303 92560303 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:92560303G>C uc010tif.1 + 6 1759 c.1393G>C c.(1393-1395)GTT>CTT p.V465L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 465 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACTGAAGCATGTTGTTCAGGT 0.323000 PCCA 5095 broad.mit.edu 37 13 100953844 100953844 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:100953844G>A uc001voo.2 + 13 1234 c.1196G>A c.(1195-1197)CGG>CAG p.R399Q PCCA_uc010aga.2_Missense_Mutation_p.R373Q|PCCA_uc010tiz.1_Missense_Mutation_p.R399Q|PCCA_uc001vop.2_RNA NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 399 Biotin carboxylation. R -> Q (in PA-1). fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) GTTGAATGTCGGGTTTATGCT 0.488000 MYO16 23026 broad.mit.edu 37 13 109661393 109661393 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:109661393T>C uc001vqt.1 + 22 2651 c.2525T>C c.(2524-2526)TTC>TCC p.F842S MYO16_uc010agk.1_Missense_Mutation_p.F864S|MYO16_uc001vqu.1_Missense_Mutation_p.F642S|MYO16_uc010tjh.1_Missense_Mutation_p.F354S NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 842 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACTTTTTTTTCCAGGTATTC 0.353000 F10 2159 broad.mit.edu 37 13 113795330 113795330 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:113795330C>A uc001vsx.2 + 5 525 c.468C>A c.(466-468)ACC>ACA p.T156T F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.T156T|F10_uc001vsz.2_Silent_p.T156T NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 156 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGGTACACCCTGGCTGACA 0.662000 TMCO3 55002 broad.mit.edu 37 13 114202753 114202753 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:114202753G>A uc001vtu.3 + 12 2267 c.1906G>A c.(1906-1908)GTC>ATC p.V636I NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 636 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AAGAGCGGGCGTCATCTCTCG 0.677000 CDC16 8881 broad.mit.edu 37 13 115028389 115028389 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:115028389C>T uc001vuk.1 + 16 1610 c.1412C>T c.(1411-1413)GCA>GTA p.A471V CDC16_uc001vul.1_Missense_Mutation_p.A471V|CDC16_uc001vum.1_Missense_Mutation_p.A377V|CDC16_uc001vun.1_Missense_Mutation_p.A470V|CDC16_uc001vuo.1_Missense_Mutation_p.A419V NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 471 TPR 6. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) CACCGTCAGGCACTGGTGTTG 0.443000 OR4K15 81127 broad.mit.edu 37 14 20444431 20444431 + Missense_Mutation SNP C C T rs140788284 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:20444431C>T uc010tkx.1 + 1 754 c.754C>T c.(754-756)CGC>TGC p.R252C NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 252 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTTAGGAATCGCTCCTCTGC 0.453000 PARP2 10038 broad.mit.edu 37 14 20822321 20822321 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:20822321G>T uc001vxc.2 + 8 745 c.717G>T c.(715-717)CAG>CAT p.Q239H PARP2_uc001vxd.2_Missense_Mutation_p.Q226H|PARP2_uc001vxb.1_Missense_Mutation_p.Q239H|PARP2_uc010tle.1_Translation_Start_Site NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 239 PARP alpha-helical. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TTCGGGTACAGGAGTTAATAA 0.383000 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA TEP1 7011 broad.mit.edu 37 14 20851686 20851686 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:20851686C>T uc001vxe.2 - 26 3868 c.3828G>A c.(3826-3828)GGG>GGA p.G1276G TEP1_uc010ahk.2_Silent_p.G626G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.G1168G|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1276 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAATCAGCTGCCCATTCTGGT 0.597000 PSMB5 5693 broad.mit.edu 37 14 23495375 23495375 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:23495375G>A uc001wii.2 - 3 979 c.715C>T c.(715-717)CGG>TGG p.R239W PSMB5_uc001wij.2_3'UTR|PSMB5_uc010tni.1_Missense_Mutation_p.R136W NM_002797 NP_002788 P28074 PSB5_HUMAN proteasome beta 5 subunit isoform 1 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) CCATCCTCCCGCACGTGGTAG 0.562000 MYH6 4624 broad.mit.edu 37 14 23855198 23855198 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:23855198C>T uc001wjv.2 - 34 5169 c.5102G>A c.(5101-5103)CGG>CAG p.R1701Q NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1701 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGCCAGCTTCCGGGACCGCTC 0.637000 JPH4 84502 broad.mit.edu 37 14 24045100 24045100 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:24045100G>A uc001wkq.2 - 4 1863 c.945C>T c.(943-945)CAC>CAT p.H315H JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.H315H|JPH4_uc001wks.2_Silent_p.H315H NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 315 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GCCCGTAGCCGTGCCGCCGGT 0.751000 NYNRIN 57523 broad.mit.edu 37 14 24882594 24882594 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:24882594C>T uc001wpf.3 + 8 3135 c.2817C>T c.(2815-2817)ACC>ACT p.T939T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 939 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 ATGGCCCCACCTTGGATGAGT 0.592000 HECTD1 25831 broad.mit.edu 37 14 31574621 31574621 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:31574621G>A uc001wrc.1 - 40 7856 c.7367C>T c.(7366-7368)ACG>ATG p.T2456M HECTD1_uc001wra.1_Missense_Mutation_p.T582M|HECTD1_uc001wrb.1_Missense_Mutation_p.T582M NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2456 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGAATACCCGTATGCATACA 0.323000 HECTD1 25831 broad.mit.edu 37 14 31613392 31613392 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:31613392C>A uc001wrc.1 - 17 3192 c.2703G>T c.(2701-2703)AAG>AAT p.K901N HECTD1_uc001wrd.1_Missense_Mutation_p.K416N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 901 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGTTTTCATCCTTCAAAAGTA 0.318000 INSM2 84684 broad.mit.edu 37 14 36003563 36003563 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:36003563G>A uc001wth.1 + 1 316 c.105G>A c.(103-105)CCG>CCA p.P35P NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AGGGGGCGCCGCCCTTCTTGG 0.692000 INSM2 84684 broad.mit.edu 37 14 36003662 36003662 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:36003662G>A uc001wth.1 + 1 415 c.204G>A c.(202-204)GCG>GCA p.A68A NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) CGGCGGAGGCGGCCCGGGAAC 0.761000 INSM2 84684 broad.mit.edu 37 14 36003715 36003715 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:36003715C>T uc001wth.1 + 1 468 c.257C>T c.(256-258)ACG>ATG p.T86M NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AGCCCGGGGACGGGCGGGCGG 0.662000 BRMS1L 84312 broad.mit.edu 37 14 36334967 36334967 + Missense_Mutation SNP C C T rs150621893 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:36334967C>T uc001wtl.2 + 8 853 c.727C>T c.(727-729)CCA>TCA p.P243S NM_032352 NP_115728 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 243 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus skin(1) 1 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) GAAAACGGAACGTAAGTCATT 0.348000 PAX9 5083 broad.mit.edu 37 14 37145597 37145597 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:37145597G>A uc001wty.3 + 5 1683 c.966G>A c.(964-966)GCG>GCA p.A322A PAX9_uc010amq.2_RNA NM_006194 NP_006185 P55771 PAX9_HUMAN paired box 9 322 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CATCGCTGGCGTTCAAGGGAA 0.572000 SAMD4A 23034 broad.mit.edu 37 14 55169148 55169148 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:55169148G>T uc001xbb.2 + 2 563 c.562G>T c.(562-564)GGG>TGG p.G188W SAMD4A_uc001xba.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbc.2_Missense_Mutation_p.G188W|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Missense_Mutation_p.G88W NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 189 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 CAAGCTCAATGGGTGGCAGAA 0.527000 KTN1 3895 broad.mit.edu 37 14 56101252 56101252 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:56101252C>T uc001xcb.2 + 10 1639 c.1337C>T c.(1336-1338)GCA>GTA p.A446V KTN1_uc001xce.2_Missense_Mutation_p.A446V|KTN1_uc001xcc.2_Missense_Mutation_p.A446V|KTN1_uc001xcd.2_Missense_Mutation_p.A446V|KTN1_uc010trb.1_Missense_Mutation_p.A446V|KTN1_uc001xcf.1_Missense_Mutation_p.A446V NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 446 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 AGGCAGTCTGCAGAACTAAAT 0.378000 T RET papillary thryoid GPR135 64582 broad.mit.edu 37 14 59931390 59931390 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:59931390G>A uc010apj.2 - 1 670 c.555C>T c.(553-555)GCC>GCT p.A185A GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 185 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) AGCGGCTGGCGGCGCAGAAgc 0.572000 SYNE2 23224 broad.mit.edu 37 14 64653226 64653226 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:64653226G>A uc001xgm.2 + 97 17871 c.17641G>A c.(17641-17643)GTG>ATG p.V5881M SYNE2_uc001xgl.2_Missense_Mutation_p.V5881M|SYNE2_uc010apy.2_Missense_Mutation_p.V2266M|SYNE2_uc001xgn.2_Missense_Mutation_p.V843M|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Translation_Start_Site|SYNE2_uc001xgq.2_Missense_Mutation_p.V246M NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5881 Spectrin 4.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCACGTTCTCGTGGAAGATGT 0.473000 SPTB 6710 broad.mit.edu 37 14 65239523 65239523 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:65239523G>A uc001xht.2 - 25 5382 c.5328C>T c.(5326-5328)AAC>AAT p.N1776N SPTB_uc001xhr.2_Silent_p.N1776N|SPTB_uc001xhs.2_Silent_p.N1776N|SPTB_uc001xhu.2_Silent_p.N1776N|SPTB_uc010aqi.2_Silent_p.N437N NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1776 Spectrin 15. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCACATCTCGTTCAGCCCGT 0.637000 MAX 4149 broad.mit.edu 37 14 65543322 65543322 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:65543322C>T uc001xif.1 - 5 525 c.355G>A c.(355-357)GAC>AAC p.D119N MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Silent_p.Q32Q|MAX_uc001xig.1_Missense_Mutation_p.D110N|MAX_uc001xih.1_RNA NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 119 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) AGGCTGTTGTCTGAGGAGGGG 0.582000 PLEKHH1 57475 broad.mit.edu 37 14 68045999 68045999 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:68045999C>A uc001xjl.1 + 21 3140 c.2998C>A c.(2998-3000)CCC>ACC p.P1000T PLEKHH1_uc010tsw.1_Missense_Mutation_p.P568T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P515T|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 1000 FERM. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CTTCAGCATCCCCGTGCACTT 0.612000 PCNX 22990 broad.mit.edu 37 14 71555941 71555941 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:71555941C>T uc001xmo.2 + 30 5917 c.5471C>T c.(5470-5472)GCC>GTC p.A1824V PCNX_uc010are.1_Missense_Mutation_p.A1713V|PCNX_uc010arf.1_Missense_Mutation_p.A612V NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1824 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGATTGCATGCCCTATTTAAA 0.343000 SIPA1L1 26037 broad.mit.edu 37 14 72117105 72117105 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:72117105T>C uc001xms.2 + 5 2220 c.1872T>C c.(1870-1872)ACT>ACC p.T624T SIPA1L1_uc001xmt.2_Silent_p.T624T|SIPA1L1_uc001xmu.2_Silent_p.T624T|SIPA1L1_uc001xmv.2_Silent_p.T624T|SIPA1L1_uc010ttm.1_Silent_p.T99T NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 624 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GACAGAGCACTGAAGAAGAGA 0.443000 RGS6 9628 broad.mit.edu 37 14 72976908 72976908 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:72976908G>A uc001xna.3 + 14 1535 c.1012G>A c.(1012-1014)GAT>AAT p.D338N RGS6_uc010ttn.1_Missense_Mutation_p.D338N|RGS6_uc001xmx.3_Missense_Mutation_p.D338N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D338N|RGS6_uc010ttp.1_Missense_Mutation_p.D269N|RGS6_uc001xmz.1_Missense_Mutation_p.D199N NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 338 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CTTCTCTTTCGATGAGATATT 0.458000 PAPLN 89932 broad.mit.edu 37 14 73717689 73717689 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:73717689G>A uc010ttx.1 + 6 703 c.540G>A c.(538-540)ACG>ACA p.T180T PAPLN_uc001xnw.3_Silent_p.T180T|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.T180T NM_173462 NP_775733 O95428 PPN_HUMAN papilin 180 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GTGACGGCACGACCTGCTACC 0.642000 C14orf115 55237 broad.mit.edu 37 14 74824474 74824474 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:74824474G>A uc001xpw.3 + 2 1179 c.988G>A c.(988-990)GTG>ATG p.V330M NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 330 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GGGGGGCGTCGTGCCACTTCA 0.662000 RPS6KL1 83694 broad.mit.edu 37 14 75376598 75376598 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:75376598G>A uc010tux.1 - 7 1446 c.918C>T c.(916-918)CCC>CCT p.P306P RPS6KL1_uc001xqx.1_Silent_p.P58P|RPS6KL1_uc001xqw.2_Silent_p.P275P|RPS6KL1_uc010asd.1_RNA NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 306 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) TCCTGGCTGTGGGTTCACCTT 0.632000 SNW1 22938 broad.mit.edu 37 14 78187146 78187146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:78187146G>A uc001xuf.2 - 12 1183 c.1156C>T c.(1156-1158)CGG>TGG p.R386W SNW1_uc010tvm.1_Missense_Mutation_p.R311W|SNW1_uc010asu.2_Missense_Mutation_p.R224W|SNW1_uc010tvn.1_Missense_Mutation_p.R386W NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein 386 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CTGATATCCCGATTTTCATTT 0.373000 NRXN3 9369 broad.mit.edu 37 14 79432736 79432736 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:79432736G>A uc001xun.2 + 9 2136 c.1645G>A c.(1645-1647)GAG>AAG p.E549K NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.E674K NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 922 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CATTGCAGTCGAGCTTGTCAA 0.428000 EML5 161436 broad.mit.edu 37 14 89181530 89181530 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:89181530C>T uc001xxg.2 - 10 1383 c.1197G>A c.(1195-1197)ACG>ACA p.T399T EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 399 cytoplasm|microtubule ovary(3) 3 GTACAACTTCCGTCATATCTC 0.368000 KIAA1409 57578 broad.mit.edu 37 14 94046501 94046501 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:94046501T>C uc001ybv.1 + 16 1992 c.1909T>C c.(1909-1911)TTA>CTA p.L637L KIAA1409_uc001ybs.1_Silent_p.L637L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 814 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCAGATGGAGTTACAAGATGA 0.408000 SERPINA6 866 broad.mit.edu 37 14 94776185 94776185 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:94776185C>T uc001ycv.2 - 3 876 c.772G>A c.(772-774)GTG>ATG p.V258M SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 258 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCATTGCCCACGTAGTTCATC 0.557000 PAPOLA 10914 broad.mit.edu 37 14 97002284 97002284 + Silent SNP G G A rs144379355 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:97002284G>A uc001yfq.2 + 11 1188 c.978G>A c.(976-978)ACG>ACA p.T326T PAPOLA_uc001yfr.2_Silent_p.T326T|PAPOLA_uc010twv.1_Silent_p.T326T|PAPOLA_uc010avp.2_Silent_p.T76T NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 326 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGAACTCCACGTACAATGTGT 0.403000 PPP2R5C 5527 broad.mit.edu 37 14 102368059 102368059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:102368059G>A uc001yko.2 + 9 996 c.856G>A c.(856-858)GTG>ATG p.V286M PPP2R5C_uc010txr.1_Missense_Mutation_p.V317M|PPP2R5C_uc001ykk.2_Missense_Mutation_p.V341M|PPP2R5C_uc010txt.1_Missense_Mutation_p.V276M|PPP2R5C_uc001ykn.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykp.2_Missense_Mutation_p.V286M|PPP2R5C_uc001ykq.2_Missense_Mutation_p.V184M NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 286 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 TTTGTAGGTGGTGATGGCACT 0.453000 CDCA4 55038 broad.mit.edu 37 14 105478029 105478029 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:105478029G>A uc001yqa.2 - 2 334 c.238C>T c.(238-240)CGC>TGC p.R80C CDCA4_uc001yqb.2_Missense_Mutation_p.R80C NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 80 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) GCCACTGTGCGCCACGTCCCA 0.657000 C15orf2 23742 broad.mit.edu 37 15 24921893 24921893 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:24921893G>T uc001ywo.2 + 1 1353 c.879G>T c.(877-879)CCG>CCT p.P293P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 293 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TAGGCTTGCCGATTCCGCTGA 0.622000 HERC2 8924 broad.mit.edu 37 15 28437133 28437133 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:28437133A>C uc001zbj.2 - 53 8531 c.8425T>G c.(8425-8427)TGG>GGG p.W2809G HERC2_uc001zbk.1_Missense_Mutation_p.W344G NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2809 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GATGACTGCCAGCAGGGCTCG 0.552000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MTMR15 22909 broad.mit.edu 37 15 31222835 31222835 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:31222835C>T uc001zff.2 + 13 3168 c.2877C>T c.(2875-2877)CCC>CCT p.P959P MTMR15_uc001zfe.2_Silent_p.P564P NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 959 VRR-NUC. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) GGGGCCTCCCCGACCTGGTGG 0.562000 Direct_reversal_of_damage|Editing_and_processing_nucleases C15orf53 400359 broad.mit.edu 37 15 38990601 38990601 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:38990601G>A uc001zkf.1 + 2 405 c.395G>A c.(394-396)CGT>CAT p.R132H NM_207444 NP_997327 Q8NAA6 CO053_HUMAN hypothetical protein LOC400359 132 0 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) GTGCCCCGCCGTTCACCACTT 0.552000 VPS18 57617 broad.mit.edu 37 15 41191563 41191563 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:41191563G>A uc001zne.2 + 4 886 c.547G>A c.(547-549)GGC>AGC p.G183S NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 183 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGGGCTTTTCGGCCCTGCTCC 0.627000 DUOX2 50506 broad.mit.edu 37 15 45392015 45392015 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:45392015G>A uc010bea.2 - 25 3463 c.3260C>T c.(3259-3261)GCG>GTG p.A1087V DUOX2_uc001zun.2_Missense_Mutation_p.A1087V NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1087 Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GACGCTGGCCGCCGTGCCTCG 0.557000 SLC28A2 9153 broad.mit.edu 37 15 45545493 45545493 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:45545493T>C uc001zva.2 + 2 145 c.80T>C c.(79-81)ATG>ACG p.M27T NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 27 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CTGGAGCTCATGGTAATCACC 0.542000 FBN1 2200 broad.mit.edu 37 15 48936960 48936960 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:48936960G>A uc001zwx.1 - 2 335 c.7C>T c.(7-9)CGA>TGA p.R3* NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 3 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGACGCCCTCGACGCATGATG 0.706000 COPS2 9318 broad.mit.edu 37 15 49426000 49426000 + Silent SNP C C T rs148364582 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:49426000C>T uc001zxf.2 - 9 982 c.903G>A c.(901-903)CCG>CCA p.P301P COPS2_uc001zxh.2_Silent_p.P308P|COPS2_uc010ufa.1_Silent_p.P237P NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 301 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CATTTTTGTACGGCTTGGCCT 0.264000 TRPM7 54822 broad.mit.edu 37 15 50885864 50885864 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:50885864A>G uc001zyt.3 - 25 3822 c.3558T>C c.(3556-3558)GAT>GAC p.D1186D TRPM7_uc010bew.1_Silent_p.D1186D NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1186 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GAAATTTGTCATCTTTTTCAT 0.338000 PYGO1 26108 broad.mit.edu 37 15 55841125 55841125 + Missense_Mutation SNP G G A rs147959519 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:55841125G>A uc010bfl.1 - 2 174 c.118C>T c.(118-120)CGC>TGC p.R40C PYGO1_uc002adf.1_Missense_Mutation_p.R40C NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 40 Nuclear localization signal (Potential). Wnt receptor signaling pathway nucleus zinc ion binding p.R40C(1) ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTTGCCTTGCGCTTTTTCTTA 0.373000 LDHAL6B 92483 broad.mit.edu 37 15 59499250 59499250 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:59499250G>A uc002agb.2 + 1 209 c.111G>A c.(109-111)CCG>CCA p.P37P MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 37 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) CGCGCATCCCGCTCAACGGCA 0.592000 HERC1 8925 broad.mit.edu 37 15 63950763 63950763 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:63950763C>T uc002amp.2 - 48 9727 c.9579G>A c.(9577-9579)GCG>GCA p.A3193A NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3193 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GAAGAGACAGCGCTCTCATGA 0.493000 CSNK1G1 53944 broad.mit.edu 37 15 64499785 64499785 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:64499785G>A uc002anf.2 - 7 1168 c.688C>T c.(688-690)CGG>TGG p.R230W CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anh.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R212W NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 230 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 TCATCTCTCCGGCTTTGCTCT 0.453000 PIF1 80119 broad.mit.edu 37 15 65114768 65114768 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:65114768C>A uc002ant.2 - 3 666 c.600G>T c.(598-600)TTG>TTT p.L200F PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.L200F|PIF1_uc002anu.2_Missense_Mutation_p.L200F NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 200 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 TGGTGGAGGGCAAGCTCAGCC 0.622000 CLPX 10845 broad.mit.edu 37 15 65444827 65444827 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:65444827G>A uc002aom.2 - 13 1824 c.1752C>T c.(1750-1752)ATC>ATT p.I584I CLPX_uc010uiu.1_RNA NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 584 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 CCACACATACGATATCAGAAT 0.338000 PTPLAD1 51495 broad.mit.edu 37 15 65863951 65863951 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:65863951C>T uc002apc.2 + 9 987 c.839C>T c.(838-840)ACT>ATT p.T280I PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.T225I NM_016395 NP_057479 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain 280 Helical; (Potential). activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding 0 CTTCGTTACACTCTGTGGATT 0.463000 MAP2K1 5604 broad.mit.edu 37 15 66774194 66774194 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:66774194G>A uc010bhq.2 + 6 1145 c.670G>A c.(670-672)GTG>ATG p.V224M MAP2K1_uc010ujp.1_Missense_Mutation_p.V202M NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 224 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CAACTCCTTCGTGGGCACAAG 0.552000 Cardiofaciocutaneous_syndrome IQCH 64799 broad.mit.edu 37 15 67782375 67782375 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:67782375A>G uc002aqo.1 + 19 2881 c.2834A>G c.(2833-2835)CAC>CGC p.H945R IQCH_uc002aqq.1_Missense_Mutation_p.H602R|IQCH_uc002aqp.1_Intron|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 945 skin(3)|ovary(1) 4 Colorectal(3;0.0856) TTATATGAGCACCTGAAGAGA 0.333000 GLCE 26035 broad.mit.edu 37 15 69548149 69548149 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:69548149C>T uc002ary.1 + 3 232 c.4C>T c.(4-6)CGT>TGT p.R2C NM_015554 NP_056369 O94923 GLCE_HUMAN D-glucuronyl C5-epimerase 2 Cytoplasmic (Potential). heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity ovary(2) 2 TCTGAATATGCGTTGCTTGGC 0.373000 CSPG4 1464 broad.mit.edu 37 15 75980690 75980690 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:75980690G>T uc002baw.2 - 3 2809 c.2716C>A c.(2716-2718)CTC>ATC p.L906I NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 906 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ACCACGAGGAGGACATTGGTG 0.557000 CSPG4 1464 broad.mit.edu 37 15 75981406 75981406 + Missense_Mutation SNP C C T rs144233988 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:75981406C>T uc002baw.2 - 3 2093 c.2000G>A c.(1999-2001)CGC>CAC p.R667H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 667 CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCCTGTGCTGCGGTGGATCTG 0.667000 ISL2 64843 broad.mit.edu 37 15 76630254 76630254 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:76630254C>T uc002bbw.1 + 2 272 c.194C>T c.(193-195)ACG>ATG p.T65M NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 65 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTGGACGAGACGTGCACGTGC 0.667000 SGK269 79834 broad.mit.edu 37 15 77407138 77407138 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:77407138T>C uc002bcm.2 - 6 4909 c.4601A>G c.(4600-4602)CAA>CGA p.Q1534R NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1534 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) CCCAAAGCCTTGGGCAGTCCC 0.562000 HMG20A 10363 broad.mit.edu 37 15 77771648 77771648 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:77771648C>T uc002bcr.2 + 10 1236 c.1035C>T c.(1033-1035)CTC>CTT p.L345L HMG20A_uc002bcs.2_Silent_p.L345L NM_018200 NP_060670 Q9NP66 HM20A_HUMAN high-mobility group 20A 345 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TGAACAGACTCGATCGTTAGG 0.363000 MTHFS 10588 broad.mit.edu 37 15 80137709 80137709 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:80137709T>C uc002bex.3 - 3 495 c.455A>G c.(454-456)TAC>TGC p.Y152C MTHFS_uc002bey.2_RNA NM_006441 NP_006432 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase 152 Substrate binding.|ATP. folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding 0 all cancers(203;0.00467) GGCATCATAGTAGCCCTTGCC 0.517000 PDE8A 5151 broad.mit.edu 37 15 85658682 85658682 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:85658682A>C uc002blh.2 + 15 1552 c.1363A>C c.(1363-1365)AGA>CGA p.R455R PDE8A_uc002bli.2_Silent_p.R409R|PDE8A_uc010bnc.2_Silent_p.R208R|PDE8A_uc010bnd.2_Silent_p.R208R|PDE8A_uc002blj.2_Silent_p.R75R|PDE8A_uc002blk.2_Silent_p.R75R NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 455 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGGTTTGCGAAGACTATCAGG 0.358000 SLCO3A1 28232 broad.mit.edu 37 15 92459657 92459657 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:92459657C>T uc002bqx.2 + 2 816 c.615C>T c.(613-615)CAC>CAT p.H205H SLCO3A1_uc002bqy.2_Silent_p.H205H|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.H147H NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 205 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TCGACGACCACGTGCGGAGGA 0.582000 SNRPA1 6627 broad.mit.edu 37 15 101835369 101835369 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:101835369C>T uc002bww.2 - 1 92 c.15G>A c.(13-15)ACG>ACA p.T5T SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA NM_003090 NP_003081 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 5 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding kidney(1) 1 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCAGCTCCGCCGTCAGCTTGA 0.751000 RHBDF1 64285 broad.mit.edu 37 16 109078 109078 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:109078C>T uc002cfl.3 - 20 2190 c.2042G>A c.(2041-2043)CGG>CAG p.R681Q NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 681 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CTCCAGGTCCCGCAGGACAGT 0.592000 WFIKKN1 117166 broad.mit.edu 37 16 683442 683442 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:683442C>T uc002cht.1 + 2 1274 c.1032C>T c.(1030-1032)TAC>TAT p.Y344Y WFIKKN1_uc002chs.1_3'UTR NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz 344 BPTI/Kunitz inhibitor 1. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity 0 Hepatocellular(780;0.00335) TTGAGACCTACGAGGCATGCC 0.746000 CACNA1H 8912 broad.mit.edu 37 16 1270781 1270781 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1270781C>T uc002cks.2 + 35 7097 c.6849C>T c.(6847-6849)GAC>GAT p.D2283D CACNA1H_uc002ckt.2_Silent_p.D2277D|CACNA1H_uc002cku.2_Silent_p.D978D|CACNA1H_uc010brj.2_Silent_p.D994D|CACNA1H_uc002ckv.2_Silent_p.D972D NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2283 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTTTCTTGGACGGTAGCCACA 0.652000 BAIAP3 8938 broad.mit.edu 37 16 1398109 1398109 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1398109C>T uc002clk.1 + 33 3267 c.3267C>T c.(3265-3267)GCC>GCT p.A1089A BAIAP3_uc002clj.2_Silent_p.A1071A|BAIAP3_uc010uuz.1_Silent_p.A1054A|BAIAP3_uc010uva.1_Silent_p.A1026A|BAIAP3_uc010uvc.1_Silent_p.A1018A NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 1089 C2 2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CCGTGCCTGCCGAGGCGTGCC 0.602000 TMEM204 79652 broad.mit.edu 37 16 1584316 1584316 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1584316G>A uc002cmc.2 + 2 438 c.40G>A c.(40-42)GCC>ACC p.A14T IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.A14T|TMEM204_uc010brr.1_Missense_Mutation_p.A14T NM_024600 NP_078876 Q9BSN7 TM204_HUMAN transmembrane protein 204 14 Helical; (Potential). response to stress adherens junction|integral to membrane 0 Hepatocellular(780;0.219) CGTGCTGGTGGCCCTGGTCTC 0.682000 CRAMP1L 57585 broad.mit.edu 37 16 1709974 1709974 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1709974G>A uc010uvh.1 + 10 2323 c.2323G>A c.(2323-2325)GTC>ATC p.V775I CRAMP1L_uc002cmf.2_RNA NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 775 nucleus DNA binding 0 GGTGGTGACCGTCAGCTCTCG 0.642000 HAGH 3029 broad.mit.edu 37 16 1866933 1866933 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1866933G>T uc002cna.2 - 7 1115 c.708C>A c.(706-708)CCC>CCA p.P236P HAGH_uc002cmz.2_Silent_p.P188P|HAGH_uc010uvp.1_Missense_Mutation_p.P200Q|HAGH_uc002cnb.1_Silent_p.P188P NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 236 glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) CGGCATTGCCGGGCTCCACGT 0.627000 HS3ST6 64711 broad.mit.edu 37 16 1962139 1962139 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:1962139G>A uc002cnf.2 - 2 388 c.388C>T c.(388-390)CGA>TGA p.R130* NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 130 0 GGGGCCTCTCGCGTCACGAAG 0.672000 ABCA3 21 broad.mit.edu 37 16 2333320 2333320 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:2333320G>A uc002cpy.1 - 26 4614 c.3902C>T c.(3901-3903)CCG>CTG p.P1301L ABCA3_uc010bsk.1_Missense_Mutation_p.P1243L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1301 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GCCGACCCCCGGGGCGCTCCA 0.652000 NLRC3 197358 broad.mit.edu 37 16 3594291 3594291 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3594291G>A uc010btn.2 - 17 3221 c.2810C>T c.(2809-2811)GCG>GTG p.A937V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 937 LRR 12. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACGGGCCACCGCACACGCTCC 0.577000 CREBBP 1387 broad.mit.edu 37 16 3781417 3781417 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3781417C>T uc002cvv.2 - 30 5152 c.4948G>A c.(4948-4950)GTC>ATC p.V1650I CREBBP_uc002cvw.2_Missense_Mutation_p.V1612I NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1650 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCGGGGTCGACGATGGGGGGC 0.637000 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome ADCY9 115 broad.mit.edu 37 16 4029168 4029168 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:4029168G>A uc002cvx.2 - 8 3167 c.2628C>T c.(2626-2628)CCC>CCT p.P876P NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 876 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CGGCCAGTGCGGGAAGCGACA 0.582000 MGRN1 23295 broad.mit.edu 37 16 4731601 4731601 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:4731601G>A uc002cwz.2 + 13 1318 c.1182G>A c.(1180-1182)GCG>GCA p.A394A MGRN1_uc002cxa.2_Silent_p.A394A|MGRN1_uc010btx.2_Silent_p.A373A|MGRN1_uc010btw.2_Silent_p.A373A|MGRN1_uc002cxb.2_Silent_p.A433A|MGRN1_uc010uxo.1_Silent_p.A372A|MGRN1_uc010uxp.1_Silent_p.A372A|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 394 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 TGCTCGAGGCGCTCAACGGCC 0.647000 KIAA0430 9665 broad.mit.edu 37 16 15718921 15718921 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:15718921G>A uc002ddr.2 - 9 2256 c.2063C>T c.(2062-2064)ACG>ATG p.T688M KIAA0430_uc002ddq.2_Missense_Mutation_p.T544M|KIAA0430_uc010uzv.1_Missense_Mutation_p.T684M|KIAA0430_uc010uzw.1_Missense_Mutation_p.T686M NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 687 peroxisome nucleotide binding|RNA binding 0 GTTTTTCGGCGTCGACACTGC 0.493000 MYH11 4629 broad.mit.edu 37 16 15829334 15829334 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:15829334G>A uc002ddy.2 - 26 3502 c.3395C>T c.(3394-3396)GCC>GTC p.A1132V MYH11_uc002ddv.2_Missense_Mutation_p.A1139V|MYH11_uc002ddw.2_Missense_Mutation_p.A1132V|MYH11_uc002ddx.2_Missense_Mutation_p.A1139V|MYH11_uc010bvg.2_Missense_Mutation_p.A964V NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1132 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GTTCCTGGCGGCCCGCTCTGA 0.582000 T CBFB AML ABCC6 368 broad.mit.edu 37 16 16256993 16256993 + Silent SNP C C T rs145693403 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:16256993C>T uc002den.3 - 24 3400 c.3363G>A c.(3361-3363)TCG>TCA p.S1121S ABCC6_uc010bvo.2_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1121 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). S -> W (in PXE; autosomal dominant). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGCAGACAGACGAGTAGCTGG 0.582000 GP2 2813 broad.mit.edu 37 16 20335202 20335202 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:20335202G>A uc002dgv.2 - 3 554 c.471C>T c.(469-471)TGC>TGT p.C157C GP2_uc002dgw.2_Silent_p.C157C|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 157 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 ACCCGCCTGGGCAGGCCTTCA 0.592000 ATP2A1 487 broad.mit.edu 37 16 28906225 28906225 + Missense_Mutation SNP C C T rs138880727 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:28906225C>T uc002dro.1 + 12 1554 c.1370C>T c.(1369-1371)ACG>ATG p.T457M uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.T457M|ATP2A1_uc002drp.1_Missense_Mutation_p.T332M NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 457 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGTTCAACACGGATGTGAGA 0.592000 HIRIP3 8479 broad.mit.edu 37 16 30004974 30004974 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:30004974C>T uc002dve.2 - 5 1856 c.1395G>A c.(1393-1395)GCG>GCA p.A465A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.A153T NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 465 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 TCATGCCTAGCGCTTCCAGTT 0.617000 ZNF764 92595 broad.mit.edu 37 16 30567397 30567397 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:30567397C>T uc002dyq.2 - 3 426 c.345G>A c.(343-345)AGG>AGA p.R115R ZNF764_uc002dyr.1_Silent_p.R114R NM_033410 NP_219363 Q96H86 ZN764_HUMAN zinc finger protein 764 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCGTCCCTTCCCTTTGTCTTT 0.612000 LONP2 83752 broad.mit.edu 37 16 48295348 48295348 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:48295348G>A uc002efi.1 + 5 826 c.737G>A c.(736-738)CGC>CAC p.R246H LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R202H NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 246 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 ATAGCAATACGCCCTATTAGG 0.343000 BBS2 583 broad.mit.edu 37 16 56535332 56535332 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:56535332C>T uc002ejd.2 - 10 1392 c.1158G>A c.(1156-1158)ACG>ACA p.T386T BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 386 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 TGACTGAGAGCGTGGTGTGGA 0.517000 Bardet-Biedl_syndrome GPR114 221188 broad.mit.edu 37 16 57600565 57600565 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:57600565T>C uc002elx.3 + 7 686 c.601T>C c.(601-603)TGG>CGG p.W201R GPR114_uc010vhr.1_Missense_Mutation_p.W201R|GPR114_uc002ely.2_Missense_Mutation_p.W201R NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 201 Extracellular (Potential).|GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 GAAACAGCCCTGGGGGGGCTG 0.607000 TEPP 374739 broad.mit.edu 37 16 58018678 58018678 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:58018678G>A uc002emw.3 + 4 626 c.589G>A c.(589-591)GCC>ACC p.A197T TEPP_uc002emv.3_Missense_Mutation_p.A197T NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 197 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 CGTGTCCTCGGCCGGGGAGTT 0.682000 C16orf57 79650 broad.mit.edu 37 16 58036445 58036445 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:58036445C>T uc002emz.2 + 2 244 c.161C>T c.(160-162)CCG>CTG p.P54L ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.P54L|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.P54L|C16orf57_uc010vic.1_Missense_Mutation_p.P3L NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 54 0 AACATGTTCCCGGGCACCGAG 0.552000 CDH16 1014 broad.mit.edu 37 16 66943236 66943236 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:66943236G>A uc002eql.2 - 17 2399 c.2326C>T c.(2326-2328)CGC>TGC p.R776C CDH16_uc010cdy.2_Missense_Mutation_p.R754C|CDH16_uc002eqm.2_Missense_Mutation_p.R679C NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 776 Extracellular (Potential).|Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCCTTCATGCGGCCCACCTTG 0.488000 RRAD 6236 broad.mit.edu 37 16 66959057 66959057 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:66959057C>A uc002eqn.2 - 2 178 c.26G>T c.(25-27)GGA>GTA p.G9V RRAD_uc002eqo.2_Missense_Mutation_p.G9V NM_001128850 NP_001122322 P55042 RAD_HUMAN Ras-related associated with diabetes 9 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) CCCGCCCGCTCCGCTGCCGCC 0.786000 ELMO3 79767 broad.mit.edu 37 16 67237066 67237066 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:67237066C>T uc002esa.2 + 17 1922 c.1879C>T c.(1879-1881)CAG>TAG p.Q627* ELMO3_uc002esb.2_Nonsense_Mutation_p.Q610*|ELMO3_uc002esc.2_Nonsense_Mutation_p.Q461*|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 574 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CAAGCTGCTGCAGTACGGAGA 0.642000 FAM65A 79567 broad.mit.edu 37 16 67579579 67579579 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:67579579G>A uc010vjp.1 + 19 3359 c.3263G>A c.(3262-3264)CGG>CAG p.R1088Q FAM65A_uc002eth.2_Missense_Mutation_p.R1068Q|FAM65A_uc010cej.2_Missense_Mutation_p.R1071Q|FAM65A_uc010vjq.1_Missense_Mutation_p.R1082Q|FAM65A_uc002etk.2_Missense_Mutation_p.R1066Q NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 1072 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CTACTGGTGCGGAATCTGAAC 0.632000 FAM65A 79567 broad.mit.edu 37 16 67579655 67579655 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:67579655C>T uc010vjp.1 + 19 3435 c.3339C>T c.(3337-3339)GAC>GAT p.D1113D FAM65A_uc002eth.2_Silent_p.D1093D|FAM65A_uc010cej.2_Silent_p.D1096D|FAM65A_uc010vjq.1_Silent_p.D1107D|FAM65A_uc002etk.2_Silent_p.D1091D NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 1097 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) TGCGAAGGGACGGGCTGCGGG 0.622000 TSNAXIP1 55815 broad.mit.edu 37 16 67860159 67860159 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:67860159C>T uc002euj.2 + 10 1481 c.1087C>T c.(1087-1089)CGG>TGG p.R363W TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R240W|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R96W|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R417W|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R348W|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R71W|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R96W NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 363 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GGGGCTGCTGCGGGAGAAAGA 0.632000 DDX28 55794 broad.mit.edu 37 16 68057092 68057092 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:68057092C>T uc002evh.1 - 1 868 c.14G>A c.(13-15)CGG>CAG p.R5Q DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 5 Mitochondrial targeting signal (Potential). mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CCGCACCGGCCGCGTTAGAGC 0.682000 SMPD3 55512 broad.mit.edu 37 16 68405944 68405944 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:68405944C>T uc002ewa.2 - 3 563 c.141G>A c.(139-141)CAG>CAA p.Q47Q SMPD3_uc010cfe.2_Silent_p.Q47Q|SMPD3_uc010vlh.1_Silent_p.Q47Q NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 47 Cytoplasmic (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CGTCTGCCCGCTGGCGCTTCT 0.647000 AARS 16 broad.mit.edu 37 16 70295027 70295027 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:70295027G>A uc002eyn.1 - 13 1815 c.1705C>T c.(1705-1707)CGA>TGA p.R569* AARS_uc010vlu.1_Nonsense_Mutation_p.R399* NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 569 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TACCCTCCTCGGACCTGAGCA 0.418000 HYDIN 54768 broad.mit.edu 37 16 70866938 70866938 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:70866938T>C uc002ezr.2 - 80 13837 c.13709A>G c.(13708-13710)CAT>CGT p.H4570R HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4571 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AATGGAGAAATGAGGCTCAAA 0.418000 PLCG2 5336 broad.mit.edu 37 16 81929443 81929443 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:81929443G>A uc002fgt.2 + 13 1256 c.1104G>A c.(1102-1104)CCG>CCA p.P368P PLCG2_uc010chg.1_Silent_p.P368P NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 368 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 ATGGGAAGCCGGTCATCTACC 0.602000 KLHL36 79786 broad.mit.edu 37 16 84695452 84695452 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:84695452C>T uc002fig.2 + 5 1705 c.1564C>T c.(1564-1566)CAG>TAG p.Q522* KLHL36_uc010chl.2_Nonsense_Mutation_p.Q458*|uc002fih.2_5'Flank NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 522 Kelch 5. skin(2) 2 CTACAGCCCGCAGTGCAACCA 0.667000 FBXO31 79791 broad.mit.edu 37 16 87376516 87376516 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:87376516C>T uc002fjw.2 - 5 743 c.699G>A c.(697-699)ACG>ACA p.T233T FBXO31_uc010vot.1_Silent_p.T61T|FBXO31_uc002fjv.2_Silent_p.T125T NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 233 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) TGTGGTGGTCCGTCTGGTTGC 0.547000 ANKRD11 29123 broad.mit.edu 37 16 89347376 89347376 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:89347376C>T uc002fmx.1 - 9 6035 c.5574G>A c.(5572-5574)CCG>CCA p.P1858P ANKRD11_uc002fmy.1_Silent_p.P1858P|ANKRD11_uc002fnc.1_Silent_p.P1858P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1815P NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1858 Pro-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTTTGGGCGACGGGAGGCCAT 0.622000 ANKRD11 29123 broad.mit.edu 37 16 89350961 89350961 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:89350961G>C uc002fmx.1 - 9 2450 c.1989C>G c.(1987-1989)GAC>GAG p.D663E ANKRD11_uc002fmy.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnc.1_Missense_Mutation_p.D663E|ANKRD11_uc002fnb.1_Missense_Mutation_p.D620E NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 663 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCTGCTTGGAGTCCTCATATT 0.368000 PRPF8 10594 broad.mit.edu 37 17 1587865 1587865 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:1587865T>C uc002fte.2 - 2 115 c.1A>G c.(1-3)ATG>GTG p.M1V NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ACTCCGGCCATATCCGGAGAA 0.627000 HIC1 3090 broad.mit.edu 37 17 1961105 1961105 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:1961105G>A uc010cjy.2 + 2 1178 c.1178G>A c.(1177-1179)GGC>GAC p.G393D HIC1_uc002fty.3_Missense_Mutation_p.G374D|HIC1_uc002ftz.3_Missense_Mutation_p.G374D NM_001098202 NP_001091672 Q14526 HIC1_HUMAN hypermethylated in cancer 1 isoform 2 393 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1) 1 READ - Rectum adenocarcinoma(1115;0.236) GGCGGCGACGGCGACGACTAC 0.587000 SMG6 23293 broad.mit.edu 37 17 2186925 2186925 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:2186925C>A uc002fub.1 - 7 2497 c.2442G>T c.(2440-2442)AAG>AAT p.K814N NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 814 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TCACCTTCCGCTTGGTCTCTT 0.448000 PLD2 5338 broad.mit.edu 37 17 4720288 4720288 + Missense_Mutation SNP G G A rs138719274 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:4720288G>A uc002fzc.2 + 16 1740 c.1639G>A c.(1639-1641)GTC>ATC p.V547I PLD2_uc010vsj.1_Missense_Mutation_p.V404I|PLD2_uc002fzd.2_Missense_Mutation_p.V547I NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 547 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) TGGGGTGGTCGTCCATGGCCT 0.632000 ZNF594 84622 broad.mit.edu 37 17 5085734 5085734 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:5085734A>G uc010cla.1 - 2 1974 c.1818T>C c.(1816-1818)AAT>AAC p.N606N NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 606 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 CTGAGCTCTGATTGAAAGTTT 0.418000 DHX33 56919 broad.mit.edu 37 17 5359340 5359340 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:5359340G>A uc002gca.2 - 5 1014 c.1012C>T c.(1012-1014)CGA>TGA p.R338* DHX33_uc002gbz.2_Nonsense_Mutation_p.R109*|DHX33_uc002gcb.2_Nonsense_Mutation_p.R165*|DHX33_uc010clf.2_Missense_Mutation_p.P151L NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 338 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 TGGAAGACTCGGAGCTGCTGT 0.607000 NLGN2 57555 broad.mit.edu 37 17 7320418 7320418 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:7320418A>T uc002ggt.1 + 7 1881 c.1808A>T c.(1807-1809)GAG>GTG p.E603V NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 603 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) TTCTGGCTGGAGCTCGTGCCC 0.642000 C17orf74 201243 broad.mit.edu 37 17 7330302 7330302 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:7330302A>G uc002ggw.2 + 3 1065 c.992A>G c.(991-993)AAC>AGC p.N331S FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 331 integral to membrane 0 Prostate(122;0.157) GTGTCCCGGAACGCCCGGCCT 0.692000 MYH10 4628 broad.mit.edu 37 17 8445463 8445463 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:8445463G>A uc002gll.2 - 13 1633 c.1537C>T c.(1537-1539)CTG>TTG p.L513L MYH10_uc002glm.2_Silent_p.L523L|MYH10_uc010cnx.2_Silent_p.L522L NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 513 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TGCAGATCCAGCCCGAAATCG 0.488000 RCVRN 5957 broad.mit.edu 37 17 9804374 9804374 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:9804374G>A uc002gme.1 - 2 612 c.425C>T c.(424-426)CCA>CTA p.P142L NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 142 visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 TTCATCGTCTGGAAGGAGCTT 0.448000 MYO15A 51168 broad.mit.edu 37 17 18023035 18023035 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:18023035C>T uc010vxh.1 + 2 1259 c.921C>T c.(919-921)TAC>TAT p.Y307Y NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 307 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CCTACGGCTACGGCTACGACG 0.617000 DHRS7B 25979 broad.mit.edu 37 17 21087727 21087727 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:21087727C>T uc002gyo.2 + 5 597 c.570C>T c.(568-570)GTC>GTT p.V190V NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 190 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 GCCACATTGTCGCCATCAGCA 0.507000 NOS2 4843 broad.mit.edu 37 17 26107875 26107875 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:26107875C>T uc002gzu.2 - 9 1186 c.922G>A c.(922-924)GTC>ATC p.V308I NOS2_uc010crh.1_Missense_Mutation_p.V308I|NOS2_uc010wab.1_Missense_Mutation_p.V308I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 308 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCCTGCAGGACCAGGGGGACC 0.612000 SDF2 6388 broad.mit.edu 37 17 26976285 26976285 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:26976285C>A uc002hbw.2 - 3 397 c.358G>T c.(358-360)GCT>TCT p.A120S SDF2_uc002hbx.2_RNA NM_006923 NP_008854 Q99470 SDF2_HUMAN stromal cell-derived factor 2 precursor 120 MIR 2. protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity 0 Lung NSC(42;0.00431) TCACCAAAAGCACTCACTTCC 0.488000 SUPT6H 6830 broad.mit.edu 37 17 27010016 27010016 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:27010016A>G uc002hby.2 + 15 1874 c.1784A>G c.(1783-1785)CAG>CGG p.Q595R SUPT6H_uc010crt.2_Missense_Mutation_p.Q595R NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 595 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) GTAGCCCTGCAGATTGCCCGT 0.557000 NEK8 284086 broad.mit.edu 37 17 27068463 27068463 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:27068463C>T uc002hcp.2 + 14 1924 c.1924C>T c.(1924-1926)CGA>TGA p.R642* TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 642 RCC1 5. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) CAAAGGGGCGCGAGGTCGATT 0.612000 PHF12 57649 broad.mit.edu 37 17 27248731 27248731 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:27248731C>T uc002hdg.1 - 5 1341 c.811G>A c.(811-813)GTC>ATC p.V271I PHF12_uc010wbb.1_Missense_Mutation_p.V253I|PHF12_uc002hdi.1_Missense_Mutation_p.V267I|PHF12_uc002hdj.1_Missense_Mutation_p.V271I|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.V54I NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 271 PHD-type 2; atypical.|Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAGACTTTGACGGGTAAGGGA 0.408000 PIPOX 51268 broad.mit.edu 37 17 27380441 27380441 + Missense_Mutation SNP G G A rs142705261 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:27380441G>A uc002hdr.1 + 4 814 c.488G>A c.(487-489)CGA>CAA p.R163Q NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 163 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GATGCAATTCGACAGCTAGGA 0.527000 CCDC55 84081 broad.mit.edu 37 17 28512115 28512116 + Missense_Mutation DNP CG CG TA rs145576936 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:28512115_28512116CG>TA uc002heu.2 + 7 1128_1129 c.1100_1101CG>TA c.(1099-1101)GCG>GTA p.A367V CCDC55_uc002hev.2_Missense_Mutation_p.A313V|CCDC55_uc010wbl.1_Missense_Mutation_p.A313V|CCDC55_uc010wbm.1_Missense_Mutation_p.A313V|CCDC55_uc002hex.2_Missense_Mutation_p.A313V NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 367 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 AAACCAAGGGCGAGGGACCAAA 0.322000 TMEM132E 124842 broad.mit.edu 37 17 32957082 32957082 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:32957082T>A uc002hif.2 + 6 1452 c.1124T>A c.(1123-1125)GTC>GAC p.V375D NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 375 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCATCCCTGTCAAGGTCATT 0.572000 GGNBP2 79893 broad.mit.edu 37 17 34912960 34912960 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:34912960C>T uc002hnb.2 + 4 461 c.212C>T c.(211-213)GCC>GTC p.A71V GGNBP2_uc002hna.2_Missense_Mutation_p.A71V NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 71 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CTAAGTATTGCCATGGTGGTG 0.443000 GRB7 2886 broad.mit.edu 37 17 37898828 37898828 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:37898828A>T uc002hsr.2 + 3 415 c.165A>T c.(163-165)CGA>CGT p.R55R GRB7_uc002hss.2_Silent_p.R55R|GRB7_uc010cwc.2_Silent_p.R55R|GRB7_uc002hst.2_Silent_p.R55R NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 55 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGAAACTTCGAGAGGAGGAGA 0.602000 GSDMA 284110 broad.mit.edu 37 17 38126892 38126892 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:38126892G>A uc002htl.1 + 4 668 c.550G>A c.(550-552)GGG>AGG p.G184R GSDMA_uc002htm.1_Missense_Mutation_p.G184R NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 184 APLGLQ -> LPIGAT (in Ref. 2; AAL14426). apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 CGCCCCATTGGGGCTACAGGT 0.428000 KRT39 390792 broad.mit.edu 37 17 39123030 39123030 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:39123030T>C uc002hvo.1 - 1 115 c.79A>G c.(79-81)ACC>GCC p.T27A KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 27 Head. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) GAAGAGATGGTACTAACATTT 0.483000 KRTAP4-12 83755 broad.mit.edu 37 17 39280073 39280073 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:39280073C>T uc002hwa.2 - 1 347 c.302G>A c.(301-303)TGC>TAC p.C101Y NM_031854 NP_114060 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 101 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].|18. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGGGCGGCAGCAGGTGGG 0.468000 KRT33A 3883 broad.mit.edu 37 17 39505608 39505608 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:39505608A>G uc002hwk.1 - 2 458 c.421T>C c.(421-423)TTC>CTC p.F141L NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 141 Rod.|Coil 1B. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TTGGTCCTGAAGTCATCTGAG 0.488000 ATP6V0A1 535 broad.mit.edu 37 17 40666353 40666353 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:40666353C>T uc002hzr.2 + 21 2462 c.2295C>T c.(2293-2295)AGC>AGT p.S765S ATP6V0A1_uc002hzq.2_Silent_p.S759S|ATP6V0A1_uc002hzs.2_Silent_p.S766S|ATP6V0A1_uc010wgj.1_Silent_p.S722S|ATP6V0A1_uc010wgk.1_Silent_p.S716S|ATP6V0A1_uc010cyg.2_Silent_p.S411S|ATP6V0A1_uc010wgl.1_Silent_p.S624S|ATP6V0A1_uc002hzt.2_Silent_p.S49S NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 765 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCGGCCTGAGCGTGAAGAGCT 0.572000 CCR10 2826 broad.mit.edu 37 17 40832215 40832215 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:40832215C>T uc002iax.3 - 2 449 c.445G>A c.(445-447)GGG>AGG p.G149R CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 149 Cytoplasmic (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGCCGCGGCCCGGCTGGGAGC 0.692000 MPP3 4356 broad.mit.edu 37 17 41891388 41891388 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:41891388C>T uc002iei.3 - 16 1412 c.1246G>A c.(1246-1248)GCT>ACT p.A416T MPP3_uc002ieh.2_Missense_Mutation_p.A441T|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 416 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CGTGGAACAGCGACGCCAAAG 0.537000 SLC4A1 6521 broad.mit.edu 37 17 42335473 42335473 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:42335473C>T uc002igf.3 - 11 1312 c.1163G>A c.(1162-1164)CGC>CAC p.R388H SLC4A1_uc002igg.3_Missense_Mutation_p.R388H NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 388 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGGTAGCGGCGCCGGATATC 0.582000 GFAP 2670 broad.mit.edu 37 17 42992767 42992767 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:42992767G>A uc002ihq.2 - 1 148 c.88C>T c.(88-90)CGT>TGT p.R30C GFAP_uc002ihr.2_Missense_Mutation_p.R30C|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 30 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GGACCCAGACGGCGGCCAGGA 0.672000 PLCD3 113026 broad.mit.edu 37 17 43196237 43196237 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:43196237G>A uc002iib.2 - 5 972 c.858C>T c.(856-858)GGC>GGT p.G286G NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 286 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) CCAGTGTGGCGCCCTCCTCGC 0.483000 MAP3K14 9020 broad.mit.edu 37 17 43362236 43362236 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:43362236G>A uc002iiw.1 - 7 1342 c.1233C>T c.(1231-1233)TTC>TTT p.F411F MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 411 Interaction with ZFP91.|ATP (By similarity).|Protein kinase. cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 GCACCTCTCCGAAGGAGCCTC 0.592000 SP6 80320 broad.mit.edu 37 17 45925675 45925675 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:45925675C>T uc002img.1 - 2 453 c.121G>A c.(121-123)GGG>AGG p.G41R SP6_uc002imh.1_Missense_Mutation_p.G41R NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GGGTAGTCCCCGGCCTCAGGG 0.711000 CHAD 1101 broad.mit.edu 37 17 48546095 48546095 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:48546095C>T uc010dbr.2 - 1 133 c.80G>A c.(79-81)TGC>TAC p.C27Y ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.C27Y|ACSF2_uc010dbt.1_Intron NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 27 LRRNT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GTGGCAGTGGCAGTTCTGGGG 0.667000 ABCC3 8714 broad.mit.edu 37 17 48757227 48757227 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:48757227G>A uc002isl.2 + 26 3854 c.3774G>A c.(3772-3774)GAG>GAA p.E1258E ABCC3_uc002isn.2_Silent_p.E12E NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1258 Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGGCTGTGGAGAGGGTCAAGG 0.522000 CYB561 1534 broad.mit.edu 37 17 61514812 61514812 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:61514812C>T uc002jap.2 - 1 499 c.97G>A c.(97-99)GCG>ACG p.A33T CYB561_uc002jaq.2_Missense_Mutation_p.A79T|CYB561_uc002jar.2_Missense_Mutation_p.A33T|CYB561_uc002jas.2_Missense_Mutation_p.A33T|CYB561_uc010ddt.2_Missense_Mutation_p.A33T|CYB561_uc002jat.2_Missense_Mutation_p.A33T|CYB561_uc010wpf.1_Missense_Mutation_p.A33T|CYB561_uc010wpg.1_Missense_Mutation_p.A4T NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 33 Helical; (Potential).|Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) CCGAGCCACGCGCCGGTCATG 0.677000 KCNH6 81033 broad.mit.edu 37 17 61615881 61615881 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:61615881C>T uc002jay.2 + 8 1892 c.1812C>T c.(1810-1812)CGC>CGT p.R604R KCNH6_uc010wpl.1_Silent_p.R481R|KCNH6_uc010wpm.1_Silent_p.R604R|KCNH6_uc002jaz.1_Silent_p.R551R NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 604 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GCTGCCTGCGCGCGCTAGCCG 0.682000 SCN4A 6329 broad.mit.edu 37 17 62018409 62018409 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:62018409G>A uc002jds.1 - 24 5310 c.5233C>T c.(5233-5235)CGC>TGC p.R1745C NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1745 IQ. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TTCATGGAGCGCTGTAGCAGG 0.622000 SCN4A 6329 broad.mit.edu 37 17 62019281 62019281 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:62019281C>T uc002jds.1 - 24 4438 c.4361G>A c.(4360-4362)CGG>CAG p.R1454Q NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1454 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ACGCCCAATCCGCGCCAGGCG 0.642000 ABCA5 23461 broad.mit.edu 37 17 67303002 67303002 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:67303002G>A uc002jif.2 - 5 1870 c.652C>T c.(652-654)CGA>TGA p.R218* ABCA5_uc002jig.2_Nonsense_Mutation_p.R218*|ABCA5_uc002jih.2_Nonsense_Mutation_p.R218*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.R218* NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 218 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) ATTACTCCTCGGGGAAAGGTA 0.323000 SSTR2 6752 broad.mit.edu 37 17 71166221 71166221 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:71166221A>G uc002jje.2 + 2 1123 c.763A>G c.(763-765)ACC>GCC p.T255A NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 255 Helical; Name=6; (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) GAAGAAGGTCACCCGAATGGT 0.507000 ICT1 3396 broad.mit.edu 37 17 73008887 73008887 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:73008887G>A uc002jmm.2 + 1 108 c.106G>A c.(106-108)GGC>AGC p.G36S NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 36 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) GCAGAAAGACGGCACTGAGTT 0.682000 OREG0024724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZACN 353174 broad.mit.edu 37 17 74077483 74077483 + Silent SNP G G A rs145200784 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:74077483G>A uc002jqn.2 + 6 752 c.669G>A c.(667-669)ACG>ACA p.T223T ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 223 Extracellular (Potential). response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 TCCAGGTGACGGTGAGTCAAG 0.617000 PRPSAP1 5635 broad.mit.edu 37 17 74324855 74324855 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:74324855G>A uc010wta.1 - 7 1170 c.724C>T c.(724-726)CGT>TGT p.R242C PRPSAP1_uc010wtb.1_Missense_Mutation_p.R139C NM_002766 NP_002757 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate 213 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity ovary(1) 1 GGGGAGTGACGACCATCGTCC 0.507000 DNAH17 8632 broad.mit.edu 37 17 76421587 76421587 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:76421587G>A uc010dhp.1 - 25 4203 c.3981C>T c.(3979-3981)AAC>AAT p.N1327N DNAH17_uc002jvq.2_Silent_p.N612N|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) ACGACTGGGGGTTGAAGAAGC 0.602000 USP36 57602 broad.mit.edu 37 17 76800028 76800028 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:76800028C>T uc002jvz.1 - 16 2574 c.2249G>A c.(2248-2250)CGC>CAC p.R750H USP36_uc002jwa.1_Missense_Mutation_p.R750H|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Missense_Mutation_p.R450H|USP36_uc002jvy.1_5'Flank NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 750 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GGGTTGCAGGCGGCTGGATGA 0.622000 RPTOR 57521 broad.mit.edu 37 17 78704481 78704481 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:78704481C>T uc002jyt.1 + 5 1434 c.629C>T c.(628-630)GCA>GTA p.A210V RPTOR_uc002jys.2_Missense_Mutation_p.A210V|RPTOR_uc010wuf.1_Missense_Mutation_p.A25V|RPTOR_uc010wug.1_Missense_Mutation_p.A210V NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 210 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 AAGCAGTTCGCACTACAGCGG 0.582000 RAC3 5881 broad.mit.edu 37 17 79991680 79991680 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:79991680C>T uc002kdf.2 + 6 660 c.554C>T c.(553-555)CCG>CTG p.P185L NM_005052 NP_005043 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho 185 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GTGAAGAAGCCGGGGAAGAAG 0.652000 GPS1 2873 broad.mit.edu 37 17 80012606 80012606 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:80012606G>A uc002kdl.1 + 4 586 c.541G>A c.(541-543)GCC>ACC p.A181T RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.A217T|GPS1_uc010dij.1_Missense_Mutation_p.A217T|GPS1_uc002kdm.1_Missense_Mutation_p.A161T|GPS1_uc002kdn.1_Missense_Mutation_p.A177T|GPS1_uc002kdo.1_Missense_Mutation_p.A181T|GPS1_uc010wvh.1_Missense_Mutation_p.A173T NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 181 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CCTCAGCAACGCCCTCAAGTG 0.612000 GPS1 2873 broad.mit.edu 37 17 80014794 80014794 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:80014794C>T uc002kdl.1 + 12 1390 c.1345C>T c.(1345-1347)CGC>TGC p.R449C GPS1_uc002kdk.1_Missense_Mutation_p.R485C|GPS1_uc010dij.1_Missense_Mutation_p.R484C|GPS1_uc002kdm.1_Missense_Mutation_p.R429C|GPS1_uc002kdn.1_Missense_Mutation_p.R445C|GPS1_uc002kdo.1_Missense_Mutation_p.R448C|GPS1_uc010wvh.1_Missense_Mutation_p.R441C NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 449 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GTTCCAGCGCCGCGCCAAGGC 0.642000 UTS2R 2837 broad.mit.edu 37 17 80332696 80332696 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:80332696C>T uc010wvl.1 + 1 496 c.496C>T c.(496-498)CGC>TGC p.R166C NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 166 Cytoplasmic (Potential). integral to membrane|plasma membrane breast(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CAAGGGCTACCGCAAGCTGCT 0.701000 ZNF750 79755 broad.mit.edu 37 17 80789902 80789902 + Silent SNP C C T rs142460137 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:80789902C>T uc002kga.2 - 2 740 c.429G>A c.(427-429)CCG>CCA p.P143P TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 143 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGGCGGCTTCCGGAGCTGGGC 0.647000 EPB41L3 23136 broad.mit.edu 37 18 5394709 5394709 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:5394709C>A uc002kmt.1 - 22 3323 c.3237G>T c.(3235-3237)GAG>GAT p.E1079D EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.E857D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E748D|EPB41L3_uc002kms.1_Missense_Mutation_p.E314D|EPB41L3_uc010wze.1_Missense_Mutation_p.E384D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E376D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E351D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E471D NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1079 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTGGTGTGATCTCTGTCTCTT 0.527000 EPB41L3 23136 broad.mit.edu 37 18 5428401 5428401 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:5428401G>A uc002kmt.1 - 9 1062 c.976C>T c.(976-978)CGG>TGG p.R326W EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 326 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 ATTCGCAGCCGGTCGCGATAT 0.418000 LAMA1 284217 broad.mit.edu 37 18 6958568 6958568 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:6958568G>A uc002knm.2 - 55 7966 c.7872C>T c.(7870-7872)TAC>TAT p.Y2624Y LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.Y77Y|LAMA1_uc010wzj.1_Silent_p.Y2100Y NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2624 Laminin G-like 3. 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) TTCCCCCGACGTACAGATTGG 0.433000 PTPRM 5797 broad.mit.edu 37 18 8085713 8085713 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:8085713A>G uc002knn.3 + 10 2099 c.1596A>G c.(1594-1596)TTA>TTG p.L532L PTPRM_uc010dkv.2_Silent_p.L532L|PTPRM_uc010wzl.1_Silent_p.L319L NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 532 Fibronectin type-III 3.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AAATAGATTTATCCAATCAGA 0.408000 C18orf1 753 broad.mit.edu 37 18 13438332 13438332 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:13438332G>A uc002ksa.2 + 4 798 c.130G>A c.(130-132)GAA>AAA p.E44K C18orf1_uc002ksb.2_Missense_Mutation_p.E44K NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 44 Extracellular (Potential).|LDL-receptor class A. integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CAACAGTGACGAAGAGAACTG 0.512000 KCTD1 284252 broad.mit.edu 37 18 24056602 24056602 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:24056602A>G uc002kvw.2 - 3 746 c.186T>C c.(184-186)GGT>GGC p.G62G KCTD1_uc010xbj.1_Silent_p.G670G|KCTD1_uc010xbk.1_Silent_p.G62G|KCTD1_uc002kvy.2_5'UTR NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 62 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TGGGCTCTGTACCATCAAAAA 0.388000 GALNT1 2589 broad.mit.edu 37 18 33263466 33263466 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:33263466C>A uc010dmu.2 + 5 646 c.593C>A c.(592-594)GCT>GAT p.A198D GALNT1_uc002kyz.3_Missense_Mutation_p.A138D|GALNT1_uc002kzb.2_Missense_Mutation_p.A198D NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 198 Lumenal (Potential).|Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 AAAGGAGCTGCTGTGTCTAAA 0.443000 RPRD1A 55197 broad.mit.edu 37 18 33606891 33606891 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:33606891G>A uc002kzf.1 - 6 767 c.761C>T c.(760-762)GCC>GTC p.A254V RPRD1A_uc002kze.1_Missense_Mutation_p.A218V|RPRD1A_uc002kzg.2_Missense_Mutation_p.A254V|RPRD1A_uc010dmw.2_Missense_Mutation_p.A218V|RPRD1A_uc010dmx.2_Missense_Mutation_p.A254V NM_018170 NP_060640 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 254 Potential. ovary(1)|breast(1) 2 CTCTGCAAGGGCTTCCTTTTG 0.343000 FHOD3 80206 broad.mit.edu 37 18 34174753 34174753 + Missense_Mutation SNP C C T rs149572147 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:34174753C>T uc002kzt.1 + 7 707 c.610C>T c.(610-612)CGC>TGC p.R204C FHOD3_uc002kzr.1_Missense_Mutation_p.R204C|FHOD3_uc002kzs.1_Missense_Mutation_p.R204C|FHOD3_uc002kzu.1_Missense_Mutation_p.R29C|FHOD3_uc010dmz.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 204 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CTGCCAGTTCCGCCTGGTGGT 0.547000 FHOD3 80206 broad.mit.edu 37 18 34340642 34340642 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:34340642G>A uc002kzt.1 + 22 4018 c.3921G>A c.(3919-3921)GCG>GCA p.A1307A FHOD3_uc002kzs.1_Silent_p.A1324A|FHOD3_uc010dmz.1_Silent_p.A1039A|FHOD3_uc010dnb.1_Intron NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1307 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CGGAGGACGCGGCTGAGCACG 0.657000 KIAA1328 57536 broad.mit.edu 37 18 34647292 34647292 + Missense_Mutation SNP G G A rs151123484 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:34647292G>A uc002kzz.2 + 7 1038 c.1016G>A c.(1015-1017)CGG>CAG p.R339Q KIAA1328_uc002lab.2_Missense_Mutation_p.R55Q|KIAA1328_uc002lac.1_Missense_Mutation_p.R162Q|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.R55Q NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 339 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) AGTTATTGTCGGCTTTCTTGG 0.463000 ME2 4200 broad.mit.edu 37 18 48442541 48442541 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:48442541A>G uc002ley.2 + 5 652 c.396A>G c.(394-396)GGA>GGG p.G132G ME2_uc010dpd.2_Silent_p.G132G NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 132 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GTTGCAGGGGATTATTTATTT 0.318000 TNFRSF11A 8792 broad.mit.edu 37 18 60021739 60021739 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:60021739C>T uc002lin.2 + 4 437 c.399C>T c.(397-399)TGC>TGT p.C133C TNFRSF11A_uc010dpv.2_Silent_p.C133C NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 133 Extracellular (Potential).|TNFR-Cys 3. Sodium; via carbonyl oxygen (By similarity). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) ACACCGAGTGCGCGCCGGGCC 0.677000 Paget_Disease_of_Bone NETO1 81832 broad.mit.edu 37 18 70526122 70526122 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:70526122T>A uc002lkw.2 - 4 692 c.408A>T c.(406-408)AAA>AAT p.K136N NETO1_uc002lkx.1_Missense_Mutation_p.K135N|NETO1_uc002lky.1_Missense_Mutation_p.K136N|NETO1_uc002lkz.2_Missense_Mutation_p.K135N NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 136 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CAGCAAAAAATTTAATCCATA 0.353000 ZADH2 284273 broad.mit.edu 37 18 72913820 72913820 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:72913820C>T uc002llx.2 - 2 953 c.685G>A c.(685-687)GTA>ATA p.V229I ZADH2_uc010dqv.2_Missense_Mutation_p.V106I NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 229 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) ACGGTACCTACGGGTTCAGTT 0.478000 ZNF236 7776 broad.mit.edu 37 18 74639294 74639294 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:74639294C>T uc002lmi.2 + 24 4427 c.4229C>T c.(4228-4230)ACG>ATG p.T1410M ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1410 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAGCAGCTCACGGGGGAGCCT 0.552000 C19orf21 126353 broad.mit.edu 37 19 758107 758107 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:758107C>T uc002lpo.2 + 2 1244 c.1161C>T c.(1159-1161)CCC>CCT p.P387P NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 387 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCCCAGCCCGGACTCCGGA 0.677000 SBNO2 22904 broad.mit.edu 37 19 1119081 1119081 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:1119081C>T uc002lrk.3 - 14 1694 c.1456G>A c.(1456-1458)GTC>ATC p.V486I SBNO2_uc002lrj.3_Missense_Mutation_p.V429I|SBNO2_uc010dse.2_Missense_Mutation_p.V479I|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Missense_Mutation_p.V429I NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 486 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGAAGGTGACGCCGGAGAAG 0.677000 PCSK4 54760 broad.mit.edu 37 19 1487181 1487181 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:1487181C>T uc002ltb.1 - 7 876 c.814G>A c.(814-816)GGC>AGC p.G272S PCSK4_uc002lta.2_Missense_Mutation_p.G84S NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 272 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAGGATGCCGGGGCCGTCC 0.721000 REXO1 57455 broad.mit.edu 37 19 1817235 1817235 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:1817235C>T uc002lua.3 - 12 3279 c.3184G>A c.(3184-3186)GCC>ACC p.A1062T REXO1_uc010dsq.2_Missense_Mutation_p.A371T|REXO1_uc010xgs.1_Missense_Mutation_p.A48T|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 1062 Exonuclease. nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTCCAGGGCGTAGATCCCC 0.647000 AP3D1 8943 broad.mit.edu 37 19 2110223 2110223 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:2110223C>T uc002luz.2 - 26 3213 c.2990G>A c.(2989-2991)GGC>GAC p.G997D AP3D1_uc010dsv.2_Missense_Mutation_p.G87D|AP3D1_uc002luy.2_Missense_Mutation_p.G956D|AP3D1_uc002lva.2_Missense_Mutation_p.G1059D NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 997 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGGAGACGCCTGGCGGGGG 0.627000 DOHH 83475 broad.mit.edu 37 19 3496787 3496787 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:3496787G>A uc002lxs.2 - 2 189 c.26C>T c.(25-27)GCC>GTC p.A9V DOHH_uc010xhl.1_Missense_Mutation_p.A9V NM_031304 NP_112594 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 9 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCCCGATGGCATCCACCTC 0.672000 C19orf29 58509 broad.mit.edu 37 19 3613180 3613180 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:3613180G>A uc002lyh.2 - 9 1715 c.1662C>T c.(1660-1662)TAC>TAT p.Y554Y C19orf29_uc010xho.1_Silent_p.Y13Y|C19orf29_uc010dtn.2_Silent_p.Y402Y|C19orf29_uc002lyi.3_Silent_p.Y554Y|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 554 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCGGCGTCGTAGTCGTCCA 0.711000 CHAF1A 10036 broad.mit.edu 37 19 4430584 4430584 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:4430584C>T uc002mal.2 + 11 1993 c.1893C>T c.(1891-1893)GAC>GAT p.D631D NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 631 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AAGATGAGGACGATGGTTTCT 0.463000 Chromatin_Structure SEMA6B 10501 broad.mit.edu 37 19 4558377 4558377 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:4558377C>T uc010duc.1 - 1 131 c.93G>A c.(91-93)CCG>CCA p.P31P SEMA6B_uc010dud.2_Silent_p.P31P|SEMA6B_uc010xih.1_Silent_p.P31P NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 31 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TAAGCGGCGGCGGCTCCTCAG 0.706000 OREG0025169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARRDC5 645432 broad.mit.edu 37 19 4902691 4902691 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:4902691G>A uc002mbm.2 - 1 189 c.189C>T c.(187-189)TAC>TAT p.Y63Y NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 63 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TCCATTCGACGTAACCCCTTC 0.507000 STXBP2 6813 broad.mit.edu 37 19 7704641 7704641 + Missense_Mutation SNP G G A rs141717050 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:7704641G>A uc002mha.3 + 4 239 c.194G>A c.(193-195)CGG>CAG p.R65Q STXBP2_uc002mhb.3_Missense_Mutation_p.R65Q|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R65Q|STXBP2_uc010dvk.2_Missense_Mutation_p.R33Q|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 65 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 AACAAACGGCGGGAACCCATT 0.493000 MAP2K7 5609 broad.mit.edu 37 19 7975374 7975374 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:7975374C>T uc002mit.2 + 5 549 c.484C>T c.(484-486)CGC>TGC p.R162C MAP2K7_uc002miv.2_Missense_Mutation_p.R162C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R162C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R37C NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 162 Protein kinase. R -> H (in a colorectal adenocarcinoma sample; somatic mutation).|R -> C (in a colorectal adenocarcinoma sample; somatic mutation). activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R162H(1)|p.R162C(1) large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GGAGAACAAGCGCATCCTCAT 0.637000 MAP2K7 5609 broad.mit.edu 37 19 7976016 7976016 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:7976016G>A uc002mit.2 + 7 892 c.827G>A c.(826-828)CGG>CAG p.R276Q MAP2K7_uc002miv.2_Missense_Mutation_p.R276Q|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R276Q|MAP2K7_uc010dvv.2_Missense_Mutation_p.R151Q NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 276 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GCCAAGACGCGGAGCGCCGGC 0.692000 ELAVL1 1994 broad.mit.edu 37 19 8028518 8028518 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:8028518C>T uc002mjb.2 - 6 997 c.830G>A c.(829-831)CGC>CAC p.R277H NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 277 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 GTTGAAGTCGCGGATCACTTT 0.542000 FBN3 84467 broad.mit.edu 37 19 8197972 8197972 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:8197972G>A uc002mjf.2 - 13 1631 c.1610C>T c.(1609-1611)ACC>ATC p.T537I NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 537 EGF-like 6; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CATGGTGCTGGTGGCACACTC 0.647000 MARCH2 51257 broad.mit.edu 37 19 8495651 8495651 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:8495651G>A uc002mjv.2 + 5 923 c.482G>A c.(481-483)CGC>CAC p.R161H MARCH2_uc002mjw.2_Missense_Mutation_p.R161H|MARCH2_uc002mjx.2_Intron NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 161 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTGTGCCTGCGCGGGGCCCAG 0.657000 MUC16 94025 broad.mit.edu 37 19 9084370 9084370 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:9084370T>G uc002mkp.2 - 1 7649 c.7445A>C c.(7444-7446)GAC>GCC p.D2482A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2482 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAGGCAGTGTCAGTGCTGAC 0.502000 OREG0006611 type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) OR7D2 162998 broad.mit.edu 37 19 9296544 9296544 + Silent SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:9296544G>C uc002mkz.1 + 1 275 c.87G>C c.(85-87)GGG>GGC p.G29G NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 29 Helical; Name=1; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TCATATTTGGGCTGTTCCTGT 0.502000 ZNF562 54811 broad.mit.edu 37 19 9764018 9764018 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:9764018G>T uc010xks.1 - 6 1051 c.888C>A c.(886-888)TCC>TCA p.S296S ZNF562_uc002mly.2_Silent_p.S296S|ZNF562_uc002mlx.2_Silent_p.S224S|ZNF562_uc010xkt.1_Silent_p.S259S|ZNF562_uc010xku.1_Silent_p.S227S|ZNF562_uc010xkv.1_Silent_p.S295S|ZNF562_uc010xkw.1_Silent_p.S180S NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 296 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATTTCTAAAGGATCTTCCAC 0.363000 SMARCA4 6597 broad.mit.edu 37 19 11132542 11132542 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:11132542G>A uc002mqf.3 + 19 3042 c.2758G>A c.(2758-2760)GAG>AAG p.E920K SMARCA4_uc010dxp.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E920K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E920K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E920K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E920K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E140K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E43K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E123K NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 920 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CAAGCTTCCCGAGCTCTGGGC 0.602000 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome SMARCA4 6597 broad.mit.edu 37 19 11135079 11135079 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:11135079G>A uc002mqf.3 + 21 3330 c.3046G>A c.(3046-3048)GTG>ATG p.V1016M SMARCA4_uc010dxp.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxo.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqg.1_Missense_Mutation_p.V1016M|SMARCA4_uc010dxq.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxr.2_Missense_Mutation_p.V1016M|SMARCA4_uc002mqj.3_Missense_Mutation_p.V1016M|SMARCA4_uc010dxs.2_Missense_Mutation_p.V1016M|SMARCA4_uc010dxt.1_Missense_Mutation_p.V236M|SMARCA4_uc002mqh.3_Missense_Mutation_p.V139M|SMARCA4_uc002mqi.1_Missense_Mutation_p.V219M NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1016 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCCAAGGGCGTGCTGCTGAC 0.622000 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome CNN1 1264 broad.mit.edu 37 19 11660378 11660378 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:11660378C>T uc002msc.1 + 7 826 c.662C>T c.(661-663)GCG>GTG p.A221V CNN1_uc010xmb.1_Missense_Mutation_p.A171V|CNN1_uc010xmc.1_Missense_Mutation_p.A171V NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 221 Calponin-like 2. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 GGCATGACTGCGCCAGGGACC 0.692000 ZNF441 126068 broad.mit.edu 37 19 11891075 11891075 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:11891075T>C uc010dyj.2 + 4 630 c.436T>C c.(436-438)TGT>CGT p.C146R ZNF441_uc002msn.3_Missense_Mutation_p.C102R NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACATACACAATGTGGGACAGC 0.403000 HOOK2 29911 broad.mit.edu 37 19 12875651 12875651 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:12875651G>A uc002muy.2 - 20 1975 c.1804C>T c.(1804-1806)CGC>TGC p.R602C HOOK2_uc010xmq.1_Missense_Mutation_p.R7C|HOOK2_uc002muz.2_Missense_Mutation_p.R600C NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 602 Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 TCCACGTAGCGGCGGTATCGC 0.607000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAST1 22983 broad.mit.edu 37 19 12985336 12985336 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:12985336G>A uc002mvm.2 + 26 4493 c.4365G>A c.(4363-4365)GCG>GCA p.A1455A NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1455 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CTCTGGGCGCGGACTCCAAGG 0.731000 ZSWIM4 65249 broad.mit.edu 37 19 13941853 13941853 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:13941853C>T uc002mxh.1 + 13 3148 c.2959C>T c.(2959-2961)CGT>TGT p.R987C ZSWIM4_uc010xng.1_Missense_Mutation_p.R910C NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 987 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GGTGCGGGAGCGTTTTGGTTG 0.597000 ILVBL 10994 broad.mit.edu 37 19 15233799 15233799 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:15233799G>A uc002nam.2 - 5 629 c.508C>T c.(508-510)CGG>TGG p.R170W ILVBL_uc010dzw.2_Missense_Mutation_p.R63W|ILVBL_uc010dzx.1_Missense_Mutation_p.R170W NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 170 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 CAGAGTGGCCGGAAAAGGGAC 0.632000 CYP4F8 11283 broad.mit.edu 37 19 15739191 15739191 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:15739191G>A uc002nbi.2 + 12 1259 c.1195G>A c.(1195-1197)GCC>ACC p.A399T CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 399 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCCTACATTCGCCCGCGGCTG 0.637000 USHBP1 83878 broad.mit.edu 37 19 17366391 17366391 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:17366391G>A uc002nfs.1 - 10 1608 c.1495C>T c.(1495-1497)CGG>TGG p.R499W USHBP1_uc002nfr.1_Missense_Mutation_p.R125W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R435W NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 499 Potential. PDZ domain binding ovary(1) 1 AGCTGCAGCCGAAGCATCAGG 0.652000 USHBP1 83878 broad.mit.edu 37 19 17373521 17373521 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:17373521C>A uc002nfs.1 - 4 595 c.482G>T c.(481-483)GGG>GTG p.G161V USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G97V|USHBP1_uc010eam.1_Missense_Mutation_p.G89V NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 161 PDZ domain binding ovary(1) 1 TTCCTGCTTCCCAAGGGAACC 0.682000 ABHD8 79575 broad.mit.edu 37 19 17412206 17412206 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:17412206C>T uc002ngb.3 - 2 460 c.220G>A c.(220-222)GGC>AGC p.G74S NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 74 hydrolase activity 0 CGGACCAAGCCGGAGAGGTCC 0.697000 B3GNT3 10331 broad.mit.edu 37 19 17918981 17918981 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:17918981G>A uc002nhk.1 + 2 450 c.365G>A c.(364-366)CGC>CAC p.R122H B3GNT3_uc002nhl.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122H|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122H NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 122 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 AACTATGTGCGCCGCGAGCTG 0.677000 KLHL26 55295 broad.mit.edu 37 19 18779936 18779936 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:18779936A>G uc002njz.1 + 3 1756 c.1729A>G c.(1729-1731)ATC>GTC p.I577V NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 577 Kelch 6. ovary(1) 1 CGTCACGGGCATCGTACAGGT 0.662000 PBX4 80714 broad.mit.edu 37 19 19681602 19681602 + Silent SNP G G A rs112528821 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:19681602G>A uc002nmy.2 - 3 235 c.234C>T c.(232-234)GAC>GAT p.D78D PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Translation_Start_Site NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 78 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 GGAGCTGGGCGTCAGGGGGAT 0.557000 ZNF14 7561 broad.mit.edu 37 19 19823267 19823267 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:19823267C>T uc002nnk.1 - 4 977 c.823G>A c.(823-825)GGA>AGA p.G275R NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) GGTTTTTCTCCAGTGTGAGTT 0.403000 ZNF676 163223 broad.mit.edu 37 19 22375844 22375844 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:22375844C>A uc002nqs.1 - 2 422 c.104G>T c.(103-105)AGA>ATA p.R35I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATCTCATGTCTCTTCATATT 0.413000 ZNF536 9745 broad.mit.edu 37 19 30936377 30936377 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:30936377C>T uc002nsu.1 + 2 2046 c.1908C>T c.(1906-1908)TGC>TGT p.C636C ZNF536_uc010edd.1_Silent_p.C636C NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 636 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCCCCGACTGCGGCCGGGTGT 0.627000 FFAR2 2867 broad.mit.edu 37 19 35940790 35940790 + Silent SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:35940790G>C uc002nzg.2 + 2 254 c.174G>C c.(172-174)CTG>CTC p.L58L FFAR2_uc010eea.2_Silent_p.L58L NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 58 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACCTCCTCCTGCTGCTGCTGC 0.647000 RBM42 79171 broad.mit.edu 37 19 36124665 36124665 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36124665C>T uc002oan.2 + 7 837 c.761C>T c.(760-762)GCG>GTG p.A254V RBM42_uc010eef.2_Missense_Mutation_p.A200V|RBM42_uc002oao.2_Missense_Mutation_p.A232V|RBM42_uc002oap.2_Missense_Mutation_p.A224V|RBM42_uc002oaq.2_Missense_Mutation_p.A225V|RBM42_uc010eeg.2_Missense_Mutation_p.A225V NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 254 Necessary for interaction with HNRNPK (By similarity).|Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCAGTGGTGGCGGCGGCGGCT 0.697000 C19orf55 148137 broad.mit.edu 37 19 36258757 36258757 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36258757G>A uc002obq.1 + 9 1083 c.1010G>A c.(1009-1011)CGG>CAG p.R337Q NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN hypothetical protein LOC148137 337 ovary(1) 1 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAGTGATACGGAAGAGCGAA 0.647000 ARHGAP33 115703 broad.mit.edu 37 19 36272095 36272095 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36272095C>T uc002obr.1 + 12 1111 c.1026C>T c.(1024-1026)CAC>CAT p.H342H ARHGAP33_uc002obs.1_Silent_p.H342H|ARHGAP33_uc002obt.1_Silent_p.H206H|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 342 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TTGAGGCCCACGGGGTGGTGG 0.597000 ARHGAP33 115703 broad.mit.edu 37 19 36276195 36276195 + Missense_Mutation SNP T T C rs111354763 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36276195T>C uc002obr.1 + 18 1911 c.1826T>C c.(1825-1827)CTG>CCG p.L609P ARHGAP33_uc002obs.1_Missense_Mutation_p.L609P|ARHGAP33_uc002obt.1_Missense_Mutation_p.L473P|ARHGAP33_uc010eel.2_Missense_Mutation_p.L197P|ARHGAP33_uc002obv.1_Missense_Mutation_p.L197P NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 609 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 AAGAAGCCCCTGCCCTGGCTG 0.677000 SPRED3 399473 broad.mit.edu 37 19 38882866 38882866 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:38882866T>C uc002oim.2 + 3 365 c.361T>C c.(361-363)TCC>CCC p.S121P SPRED3_uc002oil.1_Missense_Mutation_p.S121P NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 121 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACTCAccccctcctcctcctc 0.532000 FCGBP 8857 broad.mit.edu 37 19 40433985 40433985 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:40433985T>C uc002omp.3 - 2 292 c.284A>G c.(283-285)AAG>AGG p.K95R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 95 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CATCTCAGCCTTGGCACTGAT 0.557000 CNTD2 79935 broad.mit.edu 37 19 40729347 40729347 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:40729347C>T uc010xvi.1 - 4 669 c.620G>A c.(619-621)GGC>GAC p.G207D CNTD2_uc002ond.2_RNA NM_024877 NP_079153 Q9H8S5 CNTD2_HUMAN cyclin N-terminal domain containing 2 isoform 2 207 regulation of cyclin-dependent protein kinase activity protein kinase binding 0 CAGCAGCGGGCCGGGGTGGTG 0.706000 LTBP4 8425 broad.mit.edu 37 19 41122916 41122916 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:41122916C>T uc002ooh.1 + 23 3135 c.3135C>T c.(3133-3135)GGC>GGT p.G1045G LTBP4_uc002oog.1_Silent_p.G1008G|LTBP4_uc002ooi.1_Silent_p.G978G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1045 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGCCAGGGGGCGGATGCCAGG 0.602000 CYP2A13 1553 broad.mit.edu 37 19 41601775 41601775 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:41601775G>A uc002opt.2 + 9 1423 c.1414G>A c.(1414-1416)GAC>AAC p.D472N NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 472 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) TAAGGATATCGACGTGTCCCC 0.458000 CYP2F1 1572 broad.mit.edu 37 19 41630686 41630686 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:41630686C>T uc002opu.1 + 8 1083 c.1027C>T c.(1027-1029)CGC>TGC p.R343C CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 343 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GCTGAAGGACCGCGCGGCCAT 0.672000 ZNF574 64763 broad.mit.edu 37 19 42585373 42585373 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:42585373T>C uc002osm.3 + 2 2784 c.2615T>C c.(2614-2616)GTG>GCG p.V872A ZNF574_uc002osk.3_Missense_Mutation_p.V962A NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 872 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GAGACTGCTGTGGAGGCGCTA 0.637000 MEGF8 1954 broad.mit.edu 37 19 42853826 42853826 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:42853826A>G uc002otl.3 + 13 2908 c.2273A>G c.(2272-2274)GAT>GGT p.D758G MEGF8_uc002otm.3_Missense_Mutation_p.D366G NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 825 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CTGCTGTGGGATCGGACTGGT 0.632000 MEGF8 1954 broad.mit.edu 37 19 42880471 42880471 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:42880471C>T uc002otl.3 + 41 8516 c.7881C>T c.(7879-7881)AGC>AGT p.S2627S MEGF8_uc002otm.3_Silent_p.S2235S|MEGF8_uc002otn.3_Silent_p.S288S NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2694 Cytoplasmic (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) AGATGGCCAGCCGCCCCTTCG 0.657000 ZC3H4 23211 broad.mit.edu 37 19 47572412 47572412 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:47572412C>G uc002pga.3 - 14 2373 c.2335G>C c.(2335-2337)GAG>CAG p.E779Q ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 779 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCCTCCTCCTGCTGCTTC 0.701000 SLC8A2 6543 broad.mit.edu 37 19 47969509 47969509 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:47969509G>T uc002pgx.2 - 2 430 c.152C>A c.(151-153)CCG>CAG p.P51Q SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.P51Q NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 51 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CAGCACCCCCGGCTGGCAGCG 0.697000 CRX 1406 broad.mit.edu 37 19 48337743 48337743 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:48337743G>A uc002phq.3 + 2 247 c.43G>A c.(43-45)GCC>ACC p.A15T CRX_uc010elm.1_Intron NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 15 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TTCTGTCAACGCCTTGGCCCT 0.592000 GRIN2D 2906 broad.mit.edu 37 19 48918144 48918144 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:48918144C>T uc002pjc.3 + 6 1524 c.1436C>T c.(1435-1437)CCG>CTG p.P479L NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 479 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCCCCCCGCCCGGAAAAGCGC 0.597000 LMTK3 114783 broad.mit.edu 37 19 49001494 49001494 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:49001494C>T uc002pjk.2 - 12 2919 c.2919G>A c.(2917-2919)GCG>GCA p.A973A NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CCCCATTCTCCGCCGCCTTCT 0.637000 TULP2 7288 broad.mit.edu 37 19 49388705 49388705 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:49388705C>A uc002pkz.2 - 9 1212 c.1061G>T c.(1060-1062)AGA>ATA p.R354I NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 354 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CTCTACCCACCTGACTTTGCC 0.547000 HRC 3270 broad.mit.edu 37 19 49658225 49658225 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:49658225C>A uc002pmv.2 - 1 457 c.270G>T c.(268-270)AAG>AAT p.K90N TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 90 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CTTCATCCTCCTTTTCACGGT 0.537000 AP2A1 160 broad.mit.edu 37 19 50302631 50302631 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:50302631T>C uc002ppn.2 + 9 1224 c.1013T>C c.(1012-1014)CTG>CCG p.L338P AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.L338P|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 338 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GGCCAGTTCCTGCAGCACCGG 0.622000 NUP62 23636 broad.mit.edu 37 19 50411685 50411685 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:50411685C>T uc002pqx.2 - 2 1484 c.1380G>A c.(1378-1380)ACG>ACA p.T460T IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.T460T|NUP62_uc002pqz.2_Silent_p.T460T|NUP62_uc002pra.2_Silent_p.T460T|NUP62_uc002prb.2_Silent_p.T460T|NUP62_uc002prc.2_Silent_p.T384T NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 460 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GGGCCCCGGACGTGTTCAGGT 0.582000 CLEC11A 6320 broad.mit.edu 37 19 51228569 51228569 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51228569G>A uc002psy.2 + 4 995 c.817G>A c.(817-819)GGC>AGC p.G273S NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 273 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCCCGAGCTCGGCGCCCAGCC 0.721000 KLK4 9622 broad.mit.edu 37 19 51411929 51411929 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51411929G>A uc002pua.1 - 3 381 c.381C>T c.(379-381)TCC>TCT p.S127S KLK4_uc002pty.1_Silent_p.S78S|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Silent_p.S32S|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Silent_p.S32S|KLK4_uc002pud.1_Silent_p.S32S NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 127 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TGTCAGACTCGGACACGGATT 0.602000 KLK5 25818 broad.mit.edu 37 19 51453227 51453227 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51453227G>A uc002pue.2 - 4 437 c.219C>T c.(217-219)TGC>TGT p.C73C KLK5_uc002puf.2_Silent_p.C73C|KLK5_uc002pug.2_Silent_p.C73C NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 73 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TGTGCATATCGCAGTCGGATC 0.662000 KLK10 5655 broad.mit.edu 37 19 51518125 51518125 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51518125C>T uc002puy.2 - 6 843 c.762G>A c.(760-762)CAG>CAA p.Q254Q KLK10_uc002puz.2_Silent_p.Q254Q|KLK10_uc002pva.2_Silent_p.Q254Q NM_145888 NP_665895 O43240 KLK10_HUMAN kallikrein-related peptidase 10 preproprotein 254 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity lung(2) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CAGCTGGATGCTGGGCAGAGC 0.562000 ZNF320 162967 broad.mit.edu 37 19 53384267 53384267 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:53384267C>T uc002qag.2 - 4 1303 c.1112G>A c.(1111-1113)CGT>CAT p.R371H ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R317H|ZNF320_uc002qai.2_Missense_Mutation_p.R371H NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 371 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TTCTGCAAGACGTGAATCACT 0.413000 ZNF665 79788 broad.mit.edu 37 19 53668313 53668313 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:53668313C>T uc010eqm.1 - 4 1530 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 412 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) ATGAATTCCCCGATGACTTGC 0.423000 ZNF665 79788 broad.mit.edu 37 19 53669274 53669274 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:53669274G>A uc010eqm.1 - 4 569 c.469C>T c.(469-471)CAT>TAT p.H157Y NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TTCCCTTCATGTTGAAATTGC 0.383000 PRKCG 5582 broad.mit.edu 37 19 54401692 54401692 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:54401692A>G uc002qcq.1 + 11 1375 c.1093_splice c.e11-2 p.V365_splice PRKCG_uc010yef.1_Splice_Site|PRKCG_uc010yeg.1_Splice_Site_p.V365_splice|PRKCG_uc010yeh.1_Splice_Site_p.V252_splice NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTGTGCGCATAGGTGATGCTG 0.592000 LAIR1 3903 broad.mit.edu 37 19 54866912 54866912 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:54866912C>T uc002qfk.1 - 10 1139 c.829G>A c.(829-831)GAG>AAG p.E277K LAIR1_uc002qfl.1_Missense_Mutation_p.E260K|LAIR1_uc002qfm.1_Missense_Mutation_p.E276K|LAIR1_uc002qfn.1_Missense_Mutation_p.E259K|LAIR1_uc010yex.1_Missense_Mutation_p.E270K|LAIR1_uc002qfo.2_Missense_Mutation_p.E259K NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 277 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GTGATGGACTCGGCCATGGGC 0.602000 NLRP7 199713 broad.mit.edu 37 19 55450565 55450565 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:55450565C>T uc002qih.3 - 4 1698 c.1622G>A c.(1621-1623)CGG>CAG p.R541Q NLRP7_uc002qig.3_Missense_Mutation_p.R541Q|NLRP7_uc002qii.3_Missense_Mutation_p.R541Q|NLRP7_uc010esk.2_Missense_Mutation_p.R541Q|NLRP7_uc010esl.2_Missense_Mutation_p.R569Q NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 541 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CGGTGACATCCGGCAGCCAAA 0.512000 EPS8L1 54869 broad.mit.edu 37 19 55594834 55594834 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:55594834G>A uc002qis.3 + 13 1407 c.1303G>A c.(1303-1305)GCC>ACC p.A435T EPS8L1_uc010ess.1_Missense_Mutation_p.A417T|EPS8L1_uc010est.1_Missense_Mutation_p.A435T|EPS8L1_uc010yfr.1_Missense_Mutation_p.A371T|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.A308T|EPS8L1_uc002qiv.2_Missense_Mutation_p.A81T|EPS8L1_uc002qiw.2_Missense_Mutation_p.A182T NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 435 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GCAGAGCCGCGCCTGGGAGGA 0.706000 PTPRH 5794 broad.mit.edu 37 19 55715343 55715343 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:55715343G>A uc002qjq.2 - 5 766 c.693C>T c.(691-693)CCC>CCT p.P231P PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.P238P NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 231 Extracellular (Potential).|Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGTGCCATCGGGGACCTCCC 0.542000 CCDC106 29903 broad.mit.edu 37 19 56163869 56163869 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:56163869G>A uc002qlr.2 + 6 1335 c.600G>A c.(598-600)TCG>TCA p.S200S CCDC106_uc002qls.2_Silent_p.S200S|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank NM_013301 NP_037433 Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 200 nucleus 0 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) AGAGCATGTCGCGGGCCTTCG 0.657000 U2AF2 11338 broad.mit.edu 37 19 56172557 56172557 + Splice_Site SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:56172557T>C uc002qlu.2 + 5 1541 c.486_splice c.e5+2 p.E162_splice U2AF2_uc002qlt.2_Splice_Site_p.E162_splice NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATCACTGAGGTActgccctcc 0.403000 ZNF667 63934 broad.mit.edu 37 19 56952725 56952725 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:56952725T>G uc002qnd.2 - 5 1801 c.1639A>C c.(1639-1641)AGA>CGA p.R547R ZNF667_uc010etl.2_Silent_p.R329R|ZNF667_uc002qne.2_Silent_p.R547R|ZNF667_uc010etm.2_Silent_p.R490R NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 547 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GTATGACTTCTTTCATGTAGA 0.423000 ZNF460 10794 broad.mit.edu 37 19 57803352 57803352 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:57803352C>T uc002qog.2 + 3 1765 c.1443C>T c.(1441-1443)TGC>TGT p.C481C ZNF460_uc010ygv.1_Silent_p.C440C NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 481 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCGTGGAGTGCGGGAAGGCCT 0.532000 ZNF324B 388569 broad.mit.edu 37 19 58967034 58967034 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:58967034G>A uc002qsv.1 + 4 830 c.723G>A c.(721-723)TCG>TCA p.S241S ZNF324B_uc002qsu.1_Silent_p.S231S|ZNF324B_uc010euq.1_Silent_p.S241S NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGAGCCCTCGACCTGGGACG 0.637000 ZNF446 55663 broad.mit.edu 37 19 58988901 58988901 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:58988901C>T uc002qsz.2 + 2 433 c.316C>T c.(316-318)CAT>TAT p.H106Y ZNF446_uc002qta.2_Missense_Mutation_p.H106Y|ZNF446_uc010eur.2_Missense_Mutation_p.H106Y NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 106 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGACTGCAGCATGACCCTGG 0.632000 COLEC11 78989 broad.mit.edu 37 2 3651971 3651971 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:3651971T>C uc002qya.2 + 2 189 c.41T>C c.(40-42)CTG>CCG p.L14P COLEC11_uc002qxz.2_5'UTR|COLEC11_uc002qyb.2_Missense_Mutation_p.L14P|COLEC11_uc002qyc.2_Missense_Mutation_p.L14P|COLEC11_uc010ewo.2_Missense_Mutation_p.L14P|COLEC11_uc010ewp.2_5'Flank|COLEC11_uc010ewq.2_5'Flank|COLEC11_uc010ewr.2_5'Flank|COLEC11_uc010ews.2_5'Flank NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 14 collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CTAATCAGCCTGGCCTTCCTG 0.592000 RNF144A 9781 broad.mit.edu 37 2 7137076 7137076 + Missense_Mutation SNP C C T rs151171616 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:7137076C>T uc002qys.2 + 3 461 c.19C>T c.(19-21)CGG>TGG p.R7W RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 7 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) AACAAGGTACCGGCCCACCTG 0.597000 GREB1 9687 broad.mit.edu 37 2 11759033 11759033 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:11759033C>T uc002rbk.1 + 22 4332 c.4032C>T c.(4030-4032)AGC>AGT p.S1344S GREB1_uc002rbp.1_Silent_p.S342S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1344 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGCTGCTCAGCGGCCCCCCTC 0.726000 LPIN1 23175 broad.mit.edu 37 2 11928551 11928551 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:11928551C>A uc010yjn.1 + 12 1848 c.1574C>A c.(1573-1575)GCA>GAA p.A525E LPIN1_uc010yjm.1_Missense_Mutation_p.A610E|LPIN1_uc002rbt.2_Missense_Mutation_p.A525E|LPIN1_uc010yjo.1_5'UTR NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 525 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CTCCTCCTGGCAATGCAGGCC 0.428000 NBAS 51594 broad.mit.edu 37 2 15493765 15493765 + Missense_Mutation SNP C C T rs140188229 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:15493765C>T uc002rcc.1 - 34 4027 c.4001G>A c.(4000-4002)CGT>CAT p.R1334H NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1334 ovary(2)|liver(1)|skin(1) 4 GAGCTCTTGACGAGTGGCCAA 0.453000 APOB 338 broad.mit.edu 37 2 21225676 21225676 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:21225676C>T uc002red.2 - 29 12746 c.12618G>A c.(12616-12618)GGG>GGA p.G4206G NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4206 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCCAGGTTTCCCCGGAAACT 0.438000 C2orf84 653140 broad.mit.edu 37 2 24398355 24398355 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:24398355T>C uc002rfc.2 + 2 92 c.6T>C c.(4-6)GCT>GCC p.A2A C2orf84_uc010eyc.2_RNA NM_001040710 NP_001035800 Q86W67 CB084_HUMAN hypothetical protein LOC653140 2 0 TGTCCATGGCTGCCACCAAAA 0.502000 TTC27 55622 broad.mit.edu 37 2 33002975 33002975 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:33002975T>C uc002rom.2 + 14 1938 c.1707T>C c.(1705-1707)TGT>TGC p.C569C TTC27_uc010ymx.1_Silent_p.C519C|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 569 HAT 1.|TPR 4. protein binding central_nervous_system(1) 1 CTCTCGGTTGTGCCTATTTGG 0.408000 STRN 6801 broad.mit.edu 37 2 37132704 37132704 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:37132704T>C uc002rpn.2 - 4 479 c.470A>G c.(469-471)CAA>CGA p.Q157R STRN_uc010ezx.2_Missense_Mutation_p.Q157R NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 157 Calmodulin-binding (Potential). dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TTGTCGACCTTGTTTCCACAT 0.338000 CDC42EP3 10602 broad.mit.edu 37 2 37873629 37873629 + Silent SNP C C T rs7560028 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:37873629C>T uc002rqi.1 - 2 1095 c.102G>A c.(100-102)CCG>CCA p.P34P NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Cdc42 effector protein 3 34 CRIB. regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding 0 all_hematologic(82;0.172) AGTCTCCAAGCGGGGGACTGA 0.463000 CYP1B1 1545 broad.mit.edu 37 2 38298186 38298186 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:38298186C>T uc002rqo.2 - 4 1714 c.1311G>A c.(1309-1311)CCG>CCA p.P437P NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 437 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) CAAAGTTCTCCGGGTTAGGCC 0.507000 OXER1 165140 broad.mit.edu 37 2 42990345 42990345 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:42990345G>A uc002rss.2 - 1 1057 c.975C>T c.(973-975)TCC>TCT p.S325S NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN G-protein coupled receptor TG1019 325 Extracellular (Potential). regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1) 1 ATCGGCAGGCGGACAGCCAGA 0.597000 SOCS5 9655 broad.mit.edu 37 2 46986977 46986977 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:46986977C>G uc002rvf.2 + 2 1472 c.1308C>G c.(1306-1308)AAC>AAG p.N436K SOCS5_uc010yoe.1_Missense_Mutation_p.N405K|SOCS5_uc002rvg.2_Missense_Mutation_p.N436K NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 436 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGAATCACAACTTTAGTTTCG 0.478000 ASB3 51130 broad.mit.edu 37 2 53927569 53927569 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:53927569C>T uc002rxg.1 - 8 1212 c.1077G>A c.(1075-1077)TCG>TCA p.S359S ASB3_uc002rxh.1_Silent_p.S286S|ASB3_uc002rxi.3_Silent_p.S397S|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 359 ANK 11. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGCGAAATATCGAAAACTTCT 0.363000 RTN4 57142 broad.mit.edu 37 2 55254522 55254522 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:55254522A>G uc002rye.2 - 3 1011 c.713T>C c.(712-714)CTG>CCG p.L238P RTN4_uc002ryd.2_Missense_Mutation_p.L32P|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 238 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 GAGAGGAGACAGAGAAGGAAG 0.433000 HSPC159 29094 broad.mit.edu 37 2 64685463 64685463 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:64685463T>C uc002scy.3 + 5 773 c.420T>C c.(418-420)GAT>GAC p.D140D NM_014181 NP_054900 Q3ZCW2 LEGL_HUMAN galectin-related protein 140 Galectin. intracellular sugar binding 0 TGTTTGTGGATGGACACCAAC 0.398000 GFPT1 2673 broad.mit.edu 37 2 69577301 69577301 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:69577301C>T uc002sfh.2 - 9 879 c.700G>A c.(700-702)GGA>AGA p.G234R GFPT1_uc002sfi.1_Missense_Mutation_p.G94R NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 252 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 TTGCAGCTTCCTTTCTTGTCT 0.388000 ANXA4 307 broad.mit.edu 37 2 70033528 70033528 + Silent SNP C C T rs148077345 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:70033528C>T uc002sfr.3 + 5 431 c.204C>T c.(202-204)GAC>GAT p.D68D ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.D68D|ANXA4_uc010yqo.1_Translation_Start_Site NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 66 Annexin 1. anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 ACTTGATAGACGACCTGAAGT 0.403000 PCYOX1 51449 broad.mit.edu 37 2 70502205 70502205 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:70502205G>A uc002sgn.3 + 4 675 c.609G>A c.(607-609)TTG>TTA p.L203L PCYOX1_uc010fdo.2_Silent_p.L126L|PCYOX1_uc010yqu.1_Silent_p.L185L NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 203 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 TTGAAACCTTGCAAAAGGCCG 0.428000 ZNF638 27332 broad.mit.edu 37 2 71576560 71576560 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:71576560G>A uc002shx.2 + 2 795 c.476G>A c.(475-477)CGC>CAC p.R159H ZNF638_uc010fec.2_Missense_Mutation_p.R265H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R159H|ZNF638_uc002shy.2_Missense_Mutation_p.R159H|ZNF638_uc002shz.2_Missense_Mutation_p.R159H|ZNF638_uc002sia.2_Missense_Mutation_p.R159H|ZNF638_uc002sib.1_Missense_Mutation_p.R159H NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 159 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GAACTTAGTCGCTATCCTGAT 0.398000 CCT7 10574 broad.mit.edu 37 2 73477497 73477497 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:73477497C>T uc002siz.2 + 10 1236 c.1134C>T c.(1132-1134)GCC>GCT p.A378A CCT7_uc002sja.2_Silent_p.A174A|CCT7_uc010yrf.1_Silent_p.A334A|CCT7_uc010feu.2_Silent_p.A336A|CCT7_uc010yrg.1_Silent_p.A278A|CCT7_uc010yrh.1_Silent_p.A250A|CCT7_uc010yri.1_Silent_p.A291A NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 378 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GTGGCGGCGCCGAGCAGTTTA 0.522000 KDM3A 55818 broad.mit.edu 37 2 86669239 86669239 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:86669239C>T uc002sri.3 + 2 396 c.69C>T c.(67-69)GCC>GCT p.A23A KDM3A_uc010ytj.1_Silent_p.A23A|KDM3A_uc010ytk.1_Silent_p.A23A NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 23 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TGTCCGCAGCCGACGGCAGCG 0.637000 KDM3A 55818 broad.mit.edu 37 2 86705071 86705071 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:86705071A>G uc002sri.3 + 13 2338 c.2011A>G c.(2011-2013)AAC>GAC p.N671D KDM3A_uc010ytj.1_Missense_Mutation_p.N671D|KDM3A_uc010ytk.1_Missense_Mutation_p.N619D NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 671 C6-type (Potential). androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 CACCATCTTCAACCTGCACTG 0.478000 TEKT4 150483 broad.mit.edu 37 2 95537341 95537341 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:95537341C>T uc002stw.1 + 1 110 c.17C>T c.(16-18)CCG>CTG p.P6L uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 6 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CAGACAGTGCCGCCCTGCGAG 0.692000 CNGA3 1261 broad.mit.edu 37 2 98996645 98996645 + Missense_Mutation SNP C C T rs77733216 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:98996645C>T uc002syt.2 + 4 640 c.223C>T c.(223-225)CGC>TGC p.R75C CNGA3_uc002syu.2_Missense_Mutation_p.R75C|CNGA3_uc010fij.2_Missense_Mutation_p.R79C NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 75 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CAGGCTGTCGCGCCTCATCTT 0.527000 POU3F3 5455 broad.mit.edu 37 2 105473199 105473199 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:105473199A>G uc010ywg.1 + 1 1231 c.1231A>G c.(1231-1233)ACC>GCC p.T411A NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 411 Homeobox. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 CAAGAAGCGGACCTCTATCGA 0.657000 IL1B 3553 broad.mit.edu 37 2 113591057 113591057 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:113591057C>T uc002tii.1 - 4 282 c.195G>A c.(193-195)GCG>GCA p.A65A IL1B_uc002tih.1_Silent_p.A34A NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 65 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) CAACAACTGACGCGGCCTGCC 0.582000 IL1F7 27178 broad.mit.edu 37 2 113676235 113676235 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:113676235C>T uc002tij.2 + 5 548 c.506C>T c.(505-507)TCG>TTG p.S169L IL1F7_uc002tik.2_Missense_Mutation_p.S148L|IL1F7_uc002til.2_Missense_Mutation_p.S129L|IL1F7_uc002tim.2_Missense_Mutation_p.S108L|IL1F7_uc002tin.2_Missense_Mutation_p.S143L NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 169 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 ATGCTGGAGTCGGCGGCTCAC 0.507000 C1QL2 165257 broad.mit.edu 37 2 119915212 119915212 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:119915212G>A uc002tlo.2 - 1 1260 c.634C>T c.(634-636)CGC>TGC p.R212C NM_182528 NP_872334 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 212 C1q. collagen pancreas(1) 1 TCGCCGCCGCGCATGAGGATG 0.637000 HNSCC(49;0.14) C1QL2 165257 broad.mit.edu 37 2 119915381 119915381 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:119915381G>A uc002tlo.2 - 1 1091 c.465C>T c.(463-465)AGC>AGT p.S155S NM_182528 NP_872334 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 155 C1q. collagen pancreas(1) 1 TCTTGGGGCCGCTGAAGGTGG 0.657000 HNSCC(49;0.14) INHBB 3625 broad.mit.edu 37 2 121104067 121104067 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:121104067C>T uc002tmn.2 + 1 349 c.303C>T c.(301-303)GCC>GCT p.A101A NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 101 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) TGCCTAAGGCCGCCATGGTCA 0.731000 GLI2 2736 broad.mit.edu 37 2 121726317 121726317 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:121726317C>T uc010flp.2 + 5 701 c.671C>T c.(670-672)ACG>ATG p.T224M GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.D94D|GLI2_uc010flo.1_Missense_Mutation_p.T99M|GLI2_uc002tmw.1_Missense_Mutation_p.T224M NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 224 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCGCGGGTGACGCCCCGCCTG 0.647000 LIMS2 55679 broad.mit.edu 37 2 128399650 128399650 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:128399650C>T uc002tpa.2 - 6 800 c.634G>A c.(634-636)GCG>ACG p.A212T LIMS2_uc002tou.2_Missense_Mutation_p.A20T|LIMS2_uc002tov.2_Missense_Mutation_p.A60T|LIMS2_uc002tow.2_Missense_Mutation_p.A60T|LIMS2_uc002tox.2_Missense_Mutation_p.A236T|LIMS2_uc010fmb.2_Missense_Mutation_p.A122T|LIMS2_uc002toy.2_Missense_Mutation_p.A207T|LIMS2_uc010yzm.1_Missense_Mutation_p.A234T|LIMS2_uc002toz.2_Missense_Mutation_p.A207T|LIMS2_uc002tpb.2_Missense_Mutation_p.A207T NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 212 LIM zinc-binding 4. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TTGCCCAGCGCGTTGACCACT 0.667000 PLEKHB2 55041 broad.mit.edu 37 2 131883388 131883388 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:131883388T>C uc002tsg.3 + 3 660 c.100T>C c.(100-102)TAT>CAT p.Y34H PLEKHB2_uc002tsh.2_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsj.3_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsf.3_Missense_Mutation_p.Y34H|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Missense_Mutation_p.Y34H|PLEKHB2_uc010zaq.1_Missense_Mutation_p.Y34H|PLEKHB2_uc002tsi.3_Missense_Mutation_p.Y75H NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 34 PH. membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) TCACCTGATCTATTATGATGA 0.443000 LCT 3938 broad.mit.edu 37 2 136566101 136566101 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:136566101G>A uc002tuu.1 - 8 3827 c.3816C>T c.(3814-3816)ACC>ACT p.T1272T NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1272 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCCGTTTTCGGTGATGTAAA 0.517000 KYNU 8942 broad.mit.edu 37 2 143718233 143718233 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:143718233T>A uc002tvl.2 + 8 753 c.623T>A c.(622-624)ATT>AAT p.I208N KYNU_uc002tvk.2_Missense_Mutation_p.I208N|KYNU_uc010fnm.2_Missense_Mutation_p.I208N NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 208 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CTTGAAGTAATTGAGAAGGAA 0.368000 RIF1 55183 broad.mit.edu 37 2 152321548 152321548 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:152321548T>G uc002txm.2 + 30 5644 c.5514T>G c.(5512-5514)ATT>ATG p.I1838M RIF1_uc002txl.2_Missense_Mutation_p.I1838M|RIF1_uc002txn.2_Missense_Mutation_p.I1838M|RIF1_uc002txo.2_Missense_Mutation_p.I1838M|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1838 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) GAGAGGAAATTTGTGATATGG 0.333000 RIF1 55183 broad.mit.edu 37 2 152324631 152324631 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:152324631G>A uc002txm.2 + 31 6848 c.6718G>A c.(6718-6720)GTT>ATT p.V2240I RIF1_uc002txl.2_Missense_Mutation_p.V2240I|RIF1_uc002txn.2_Missense_Mutation_p.V2240I|RIF1_uc002txo.2_Missense_Mutation_p.V2240I|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2240 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGGAAAAAGTGTTAAAACTTC 0.363000 FIGN 55137 broad.mit.edu 37 2 164467865 164467865 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:164467865T>C uc002uck.1 - 3 788 c.477A>G c.(475-477)ACA>ACG p.T159T NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 159 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 AACTAGGTTCTGTCAGGTTGC 0.517000 SCN1A 6323 broad.mit.edu 37 2 166848723 166848723 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:166848723C>A uc010zcz.1 - 26 5047 c.5029G>T c.(5029-5031)GGG>TGG p.G1677W NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1688 Helical; Name=S5 of repeat IV; (By similarity).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTGGACATCCCAAAGATGGCG 0.468000 SCN1A 6323 broad.mit.edu 37 2 166901611 166901611 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:166901611C>T uc010zcz.1 - 10 1622 c.1604G>A c.(1603-1605)CGC>CAC p.R535H SCN1A_uc002udo.3_Missense_Mutation_p.R404H|SCN1A_uc010fpk.2_Missense_Mutation_p.R404H NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 535 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATGGAGAAGCGAAAACCTTT 0.428000 SCN7A 6332 broad.mit.edu 37 2 167327173 167327173 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:167327173G>T uc002udu.1 - 6 743 c.616C>A c.(616-618)CAA>AAA p.Q206K SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 206 Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 CTTGCAGTTTGAAGCGTTGGA 0.299000 SP5 389058 broad.mit.edu 37 2 171573014 171573014 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:171573014G>A uc002uge.2 + 2 463 c.297G>A c.(295-297)ACG>ACA p.T99T LOC440925_uc002ugd.2_5'Flank NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGCAGAAGACGCACCTGCAGC 0.706000 GAD1 2571 broad.mit.edu 37 2 171678601 171678601 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:171678601C>T uc002ugi.2 + 3 509 c.87C>T c.(85-87)TAC>TAT p.Y29Y GAD1_uc002ugh.2_Silent_p.Y29Y NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 29 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCCTAGCGTACGATACCTGGT 0.622000 TTN 7273 broad.mit.edu 37 2 179452435 179452435 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:179452435G>A uc010zfg.1 - 255 56121 c.55897C>T c.(55897-55899)CGA>TGA p.R18633* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R12328*|TTN_uc010zfi.1_Nonsense_Mutation_p.R12261*|TTN_uc010zfj.1_Nonsense_Mutation_p.R12136* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19560 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGCTGGTCGTCCTCTCACT 0.473000 TTN 7273 broad.mit.edu 37 2 179638766 179638766 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:179638766C>A uc010zfg.1 - 31 7353 c.7129G>T c.(7129-7131)GTT>TTT p.V2377F TTN_uc010zfh.1_Missense_Mutation_p.V2331F|TTN_uc010zfi.1_Missense_Mutation_p.V2331F|TTN_uc010zfj.1_Missense_Mutation_p.V2331F|TTN_uc002unb.2_Missense_Mutation_p.V2377F|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2377 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGACTTTAACTTCAAGCTGA 0.458000 COL5A2 1290 broad.mit.edu 37 2 189953419 189953419 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:189953419A>G uc002uqk.2 - 8 920 c.645_splice c.e8+1 p.V215_splice COL5A2_uc010frx.2_5'Flank NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATTTATGCTTACCACAGAGCC 0.358000 C2orf66 401027 broad.mit.edu 37 2 197672333 197672333 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:197672333A>C uc002utv.2 - 2 1077 c.188T>G c.(187-189)CTT>CGT p.L63R NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 63 extracellular region 0 ATATGCCTGAAGCCTTCTGAA 0.378000 NDUFB3 4709 broad.mit.edu 37 2 201943742 201943742 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:201943742G>A uc002uwx.3 + 2 460 c.137G>A c.(136-138)GGC>GAC p.G46D NM_002491 NP_002482 O43676 NDUB3_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 46 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) GATCCATGGGGCCGGTAAGAT 0.373000 BMPR2 659 broad.mit.edu 37 2 203383649 203383649 + Silent SNP C C T rs151044452 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:203383649C>T uc002uzf.3 + 6 1874 c.726C>T c.(724-726)AAC>AAT p.N242N BMPR2_uc010ftr.2_Silent_p.N242N NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 242 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 ATTTTATCAACGAAAAGAACA 0.428000 NRP2 8828 broad.mit.edu 37 2 206608102 206608102 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:206608102G>A uc002vaw.2 + 9 2258 c.1467G>A c.(1465-1467)CAG>CAA p.Q489Q NRP2_uc002vat.2_Silent_p.Q489Q|NRP2_uc002vau.2_Silent_p.Q489Q|NRP2_uc002vav.2_Silent_p.Q489Q|NRP2_uc002vax.2_Silent_p.Q489Q|NRP2_uc002vay.2_Silent_p.Q489Q|NRP2_uc010fud.2_Silent_p.Q489Q NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 489 Extracellular (Potential).|F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 AGTGGCTTCAGGTAGATCTGG 0.607000 FASTKD2 22868 broad.mit.edu 37 2 207655375 207655375 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:207655375C>T uc002vbu.2 + 11 2388 c.1978C>T c.(1978-1980)CGG>TGG p.R660W FASTKD2_uc002vbv.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbx.2_Missense_Mutation_p.R660W|FASTKD2_uc002vbw.1_3'UTR NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 660 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TATGAAAATGCGGCATTTGAA 0.368000 IDH1 3417 broad.mit.edu 37 2 209104637 209104637 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:209104637C>T uc002vcs.2 - 8 1187 c.941G>A c.(940-942)CGT>CAT p.R314H IDH1_uc002vct.2_Missense_Mutation_p.R314H|IDH1_uc002vcu.2_Missense_Mutation_p.R314H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 314 NADP. 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GCGGTAGTGACGGGTTACAGT 0.517000 Mis gliobastoma MAP2 4133 broad.mit.edu 37 2 210558967 210558967 + Silent SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:210558967T>A uc002vde.1 + 7 2321 c.2073T>A c.(2071-2073)GGT>GGA p.G691G MAP2_uc002vdc.1_Silent_p.G691G|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.G687G NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 691 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GACTTGGTGGTAGGTCTGCAA 0.418000 LANCL1 10314 broad.mit.edu 37 2 211306124 211306124 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:211306124T>C uc010zjh.1 - 5 526 c.451A>G c.(451-453)ATG>GTG p.M151V LANCL1_uc002ved.2_Missense_Mutation_p.M151V|LANCL1_uc010fuq.2_Missense_Mutation_p.M151V NM_001136574 NP_001130046 O43813 LANC1_HUMAN lanthionine synthetase C-like protein 1 151 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding 0 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) CCATAGAGCATTTCATTTGGA 0.368000 MREG 55686 broad.mit.edu 37 2 216810399 216810399 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:216810399A>C uc002vfo.2 - 4 701 c.405T>G c.(403-405)GAT>GAG p.D135E MREG_uc002vfq.2_RNA NM_018000 NP_060470 Q8N565 MREG_HUMAN whn-dependent transcript 2 135 apical plasma membrane 0 Renal(323;0.0328) Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111) TGTTTTTAGAATCACTGATGG 0.398000 C2orf62 375307 broad.mit.edu 37 2 219227522 219227522 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:219227522C>T uc002vhr.2 + 6 556 c.527C>T c.(526-528)GCC>GTC p.A176V C2orf62_uc002vhs.2_Intron NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 176 0 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGAGGCTGCCAACCTGGTG 0.577000 SPEG 10290 broad.mit.edu 37 2 220299720 220299720 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:220299720G>A uc010fwg.2 + 1 21 c.21G>A c.(19-21)ACG>ACA p.T7T SPEG_uc002vlm.2_5'Flank NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 7 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCGGGGCACGCGAGGCGAGG 0.761000 OBSL1 23363 broad.mit.edu 37 2 220418391 220418391 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:220418391C>T uc010fwk.2 - 16 4951 c.4894G>A c.(4894-4896)GTG>ATG p.V1632M NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1632 Ig-like 13. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGCCCCCGCACGATGGTCACT 0.612000 OREG0003989 type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay OBSL1 23363 broad.mit.edu 37 2 220428089 220428089 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:220428089C>T uc010fwk.2 - 7 2725 c.2668G>A c.(2668-2670)GTC>ATC p.V890I OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.V365I|OBSL1_uc002vmi.2_Missense_Mutation_p.V890I|OBSL1_uc002vmj.2_Missense_Mutation_p.V477I NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 890 Ig-like 6. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GTGATGGTGACAGTGAAGTAG 0.667000 ACSL3 2181 broad.mit.edu 37 2 223791818 223791818 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:223791818C>T uc002vni.2 + 12 1827 c.1376C>T c.(1375-1377)ACG>ATG p.T459M ACSL3_uc002vnj.2_Missense_Mutation_p.T459M NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 459 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TCTGCAACCACGCAGCGATTC 0.473000 T ETV1 prostate SCG2 7857 broad.mit.edu 37 2 224463302 224463302 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:224463302G>T uc002vnm.2 - 2 832 c.699C>A c.(697-699)ATC>ATA p.I233I NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 233 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TAGCCTTGTAGATATCATCTT 0.458000 NMUR1 10316 broad.mit.edu 37 2 232393263 232393263 + Missense_Mutation SNP C C T rs138003035 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:232393263C>T uc002vry.3 - 2 579 c.469G>A c.(469-471)GTG>ATG p.V157M NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 157 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TAGCGTTCCACGCTCAGGGCA 0.632000 ECEL1 9427 broad.mit.edu 37 2 233346298 233346298 + Missense_Mutation SNP G G A rs146580059 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:233346298G>A uc002vsv.2 - 14 2112 c.1907C>T c.(1906-1908)ACG>ATG p.T636M ECEL1_uc010fya.1_Missense_Mutation_p.T634M|ECEL1_uc010fyb.1_Missense_Mutation_p.T343M NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 636 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGAGGCCTCCGTCCACCAGTG 0.642000 DGKD 8527 broad.mit.edu 37 2 234355371 234355371 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:234355371G>A uc002vui.1 + 12 1360 c.1348G>A c.(1348-1350)GCA>ACA p.A450T DGKD_uc002vuj.1_Missense_Mutation_p.A406T|DGKD_uc010fyh.1_Missense_Mutation_p.A317T|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 450 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity p.A450S(1) central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GAGCGTCATGGCATACGAGGC 0.632000 COL6A3 1293 broad.mit.edu 37 2 238277492 238277492 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:238277492G>A uc002vwl.2 - 10 4899 c.4614C>T c.(4612-4614)GAC>GAT p.D1538D COL6A3_uc002vwo.2_Silent_p.D1332D|COL6A3_uc010znj.1_Silent_p.D931D NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1538 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGGGCACCCCGTCTTCTATGC 0.577000 ASB1 51665 broad.mit.edu 37 2 239353002 239353002 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:239353002G>A uc002vyg.2 + 4 600 c.514G>A c.(514-516)GTC>ATC p.V172I NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 172 ANK 4. intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) TGATGTTGACGTCAACCACCA 0.493000 PRR21 643905 broad.mit.edu 37 2 240981445 240981445 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:240981445G>A uc010zod.1 - 1 955 c.955C>T c.(955-957)CGG>TGG p.R319W NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 319 Pro-rich. ovary(1)|skin(1) 2 ACGAAGGGCCGTGGGTGAAGA 0.597000 ANKMY1 51281 broad.mit.edu 37 2 241439508 241439508 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:241439508C>T uc002vyz.1 - 14 2635 c.2406G>A c.(2404-2406)ACG>ACA p.T802T ANKMY1_uc002vza.1_Silent_p.T578T|ANKMY1_uc010fzd.1_Silent_p.T891T|ANKMY1_uc002vzb.1_Silent_p.T563T|ANKMY1_uc002vzc.1_Silent_p.T581T|ANKMY1_uc002vzd.1_Silent_p.T625T NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 802 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CTGGCATCAGCGTGTGGAAGG 0.672000 KIF1A 547 broad.mit.edu 37 2 241712648 241712648 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:241712648G>A uc002vzy.2 - 13 1209 c.1063C>T c.(1063-1065)CGC>TGC p.R355C KIF1A_uc010fzk.2_Missense_Mutation_p.R355C|KIF1A_uc002vzz.1_Missense_Mutation_p.R355C NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 355 Kinesin-motor. 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) GCATTGCAGCGGATCTGCTTG 0.627000 HDLBP 3069 broad.mit.edu 37 2 242170272 242170272 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:242170272G>A uc002waz.2 - 25 3604 c.3376C>T c.(3376-3378)CAG>TAG p.Q1126* HDLBP_uc002wba.2_Nonsense_Mutation_p.Q1126*|HDLBP_uc002wbb.2_Nonsense_Mutation_p.Q1078* NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1126 KH 13. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GAAACCATCTGCTCAAGTTCA 0.517000 DEFB126 81623 broad.mit.edu 37 20 126054 126054 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:126054A>G uc002wcx.2 + 2 77 c.59_splice c.e2-2 p.G20_splice NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TCCTTTATTCAGGTAATTGGT 0.348000 LRRN4 164312 broad.mit.edu 37 20 6022103 6022103 + Silent SNP C C T rs149872329 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:6022103C>T uc002wmo.2 - 5 2012 c.1788G>A c.(1786-1788)GCG>GCA p.A596A NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 596 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(3) 3 AGTGGACCAGCGCCGACGTGT 0.697000 FERMT1 55612 broad.mit.edu 37 20 6075585 6075585 + Splice_Site SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:6075585C>G uc002wmr.2 - 9 1928 c.1139_splice c.e9+1 p.R380_splice FERMT1_uc002wmq.2_5'Flank|FERMT1_uc010gbt.2_Splice_Site_p.R123_splice|FERMT1_uc002wms.2_Splice_Site_p.R380_splice NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN kindlin-1 cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding ovary(1)|pancreas(1)|skin(1) 3 AGTTTACTTACCTAAATAATT 0.289000 PAK7 57144 broad.mit.edu 37 20 9546559 9546559 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:9546559C>T uc002wnl.2 - 6 2008 c.1463G>A c.(1462-1464)CGA>CAA p.R488Q PAK7_uc002wnk.2_Missense_Mutation_p.R488Q|PAK7_uc002wnj.2_Missense_Mutation_p.R488Q|PAK7_uc010gby.1_Missense_Mutation_p.R488Q NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 488 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) AAGCAGTTCTCGTCTCTGTTG 0.433000 OTOR 56914 broad.mit.edu 37 20 16730619 16730619 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:16730619T>G uc002wpj.2 + 3 371 c.327T>G c.(325-327)CGT>CGG p.R109R OTOR_uc002wpk.2_RNA NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN otoraplin precursor 109 SH3. sensory perception of sound extracellular region ovary(1)|central_nervous_system(1) 2 AGGAACAGCGTGTGTACCAGG 0.483000 SLC24A3 57419 broad.mit.edu 37 20 19674007 19674007 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:19674007A>G uc002wrl.2 + 13 1626 c.1429A>G c.(1429-1431)ATG>GTG p.M477V NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 477 Cytoplasmic (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GAAATGGTTCATGGTGACGTT 0.517000 GZF1 64412 broad.mit.edu 37 20 23346365 23346366 + Missense_Mutation DNP GC GC AT TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:23346365_23346366GC>AT uc010gdb.2 + 3 1519_1520 c.1345_1346GC>AT c.(1345-1347)GCG>ATG p.A449M GZF1_uc002wsy.2_Missense_Mutation_p.A449M|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.A449M NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 449 C2H2-type 5. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCAGCCGTCCGCGCTCAAGACG 0.663000 ZNF337 26152 broad.mit.edu 37 20 25655896 25655896 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:25655896C>A uc002wva.2 - 4 2550 c.2028G>T c.(2026-2028)TGG>TGT p.W676C uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.W644C|ZNF337_uc002wvb.2_Missense_Mutation_p.W676C|ZNF337_uc002wvc.2_Missense_Mutation_p.W676C NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 676 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGTATCCGCCAGTGGTGTC 0.512000 CPNE1 8904 broad.mit.edu 37 20 34218844 34218844 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:34218844C>T uc002xdf.2 - 13 1337 c.974G>A c.(973-975)AGC>AAC p.S325N CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.S330N|CPNE1_uc002xde.2_Missense_Mutation_p.S301N|CPNE1_uc002xdg.2_Missense_Mutation_p.S325N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.S325N|CPNE1_uc002xdi.2_Missense_Mutation_p.S325N|CPNE1_uc002xdj.2_Missense_Mutation_p.S325N|CPNE1_uc002xdk.2_Missense_Mutation_p.S325N|CPNE1_uc002xdl.2_Missense_Mutation_p.S325N|CPNE1_uc002xdm.2_Missense_Mutation_p.S325N|CPNE1_uc010gfk.1_3'UTR NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 325 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTGAACCACGCTGCCCACACT 0.562000 DLGAP4 22839 broad.mit.edu 37 20 35064650 35064650 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:35064650G>A uc002xff.2 + 4 1573 c.1138G>A c.(1138-1140)GAG>AAG p.E380K DLGAP4_uc010zvp.1_Missense_Mutation_p.E380K NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 380 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGACAGCGACGAGTCCGGCGG 0.721000 ACTR5 79913 broad.mit.edu 37 20 37396225 37396225 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:37396225C>T uc002xjd.2 + 8 1577 c.1552C>T c.(1552-1554)CGG>TGG p.R518W NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 518 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) GAGACCCTTCCGGTCTTCTTT 0.383000 LPIN3 64900 broad.mit.edu 37 20 39976275 39976275 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:39976275G>A uc002xjx.2 + 3 367 c.276G>A c.(274-276)CTG>CTA p.L92L LPIN3_uc010ggh.2_Silent_p.L92L|LPIN3_uc010zwf.1_RNA NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN lipin 3 92 N-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(115;0.000739) TTCAGGAGCTGGAGAGCGATG 0.577000 KCNK15 60598 broad.mit.edu 37 20 43379180 43379180 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:43379180C>A uc002xmr.2 + 2 758 c.694C>A c.(694-696)CTC>ATC p.L232I NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 232 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) CCTCCTGGGGCTCACGGTCAT 0.642000 KCNS1 3787 broad.mit.edu 37 20 43723770 43723770 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:43723770C>T uc002xnc.2 - 5 1719 c.1322G>A c.(1321-1323)TGC>TAC p.C441Y KCNS1_uc002xnd.2_Missense_Mutation_p.C441Y NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 441 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CCCTAGGATGCAGCCTGAGGC 0.622000 C20orf165 128497 broad.mit.edu 37 20 44515176 44515176 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:44515176G>A uc002xqf.2 - 2 673 c.664C>T c.(664-666)CCT>TCT p.P222S NM_080608 NP_542175 Q9BR10 CT165_HUMAN chromosome 20 open reading frame 165 222 integral to membrane 0 Myeloproliferative disorder(115;0.0122) GAGCCAGGAGGCTGGCCCCTT 0.592000 PCIF1 63935 broad.mit.edu 37 20 44569534 44569534 + Silent SNP G G A rs142777416 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:44569534G>A uc002xqs.2 + 6 788 c.474G>A c.(472-474)ACG>ACA p.T158T NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 158 nucleus skin(1) 1 TGTGGGGTACGTCCCCTGAAG 0.572000 NCOA5 57727 broad.mit.edu 37 20 44691344 44691344 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:44691344C>A uc002xrd.2 - 7 1863 c.1335G>T c.(1333-1335)ACG>ACT p.T445T NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Silent_p.T445T NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) TGCTATTGGCCGTCACTGTGC 0.557000 NCOA3 8202 broad.mit.edu 37 20 46265284 46265284 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:46265284C>T uc002xtk.2 + 12 2359 c.2154C>T c.(2152-2154)GAC>GAT p.D718D NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 718 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CTTGTGGGGACGGAAATGTTG 0.473000 MOCS3 27304 broad.mit.edu 37 20 49576279 49576279 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:49576279C>T uc002xvy.1 + 1 917 c.900C>T c.(898-900)TGC>TGT p.C300C DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 300 Zinc (By similarity). enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 GTGCAGCTTGCGGGGAACGGC 0.592000 TSHZ2 128553 broad.mit.edu 37 20 51870903 51870903 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:51870903A>C uc002xwo.2 + 2 1862 c.906A>C c.(904-906)AAA>AAC p.K302N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 302 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ATTACCAAAAAGTGCCTTTGA 0.448000 MC3R 4159 broad.mit.edu 37 20 54824313 54824313 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:54824313C>T uc002xxb.2 + 1 526 c.414C>T c.(412-414)ATC>ATT p.I138I NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 175 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) TCCTGGCCATCGCCGTCGACA 0.567000 GNAS 2778 broad.mit.edu 37 20 57415590 57415590 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:57415590C>T uc002xzt.2 + 1 796 c.429C>T c.(427-429)GAC>GAT p.D143D GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGCCTGAAGACGATCGCGGCC 0.662000 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) CDH4 1002 broad.mit.edu 37 20 60508125 60508125 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:60508125C>T uc002ybn.1 + 14 2336 c.2322C>T c.(2320-2322)GAC>GAT p.D774D CDH4_uc002ybp.1_Silent_p.D700D NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 774 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACCCCGAGGACGACGTCCGCG 0.662000 BIRC7 79444 broad.mit.edu 37 20 61870935 61870935 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:61870935G>C uc002yej.2 + 6 1048 c.875G>C c.(874-876)CGC>CCC p.R292P BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R274P NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 292 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GTCCGCAGCCGCGTGCGCACC 0.731000 KCNQ2 3785 broad.mit.edu 37 20 62044868 62044868 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:62044868G>A uc002yey.1 - 15 1875 c.1698C>T c.(1696-1698)GAC>GAT p.D566D KCNQ2_uc002yez.1_Silent_p.D535D|KCNQ2_uc002yfa.1_Silent_p.D548D|KCNQ2_uc002yfb.1_Silent_p.D538D NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 566 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GCTCGATGACGTCCATCACGT 0.637000 NCAM2 4685 broad.mit.edu 37 21 22838932 22838932 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:22838932G>A uc002yld.1 + 13 1909 c.1660G>A c.(1660-1662)GTT>ATT p.V554I NCAM2_uc011acb.1_Missense_Mutation_p.V412I NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 554 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCTAGCAATGGTTGTTTTGAA 0.274000 ADAMTS5 11096 broad.mit.edu 37 21 28315748 28315748 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:28315748C>T uc002ymg.2 - 3 2085 c.1356G>A c.(1354-1356)TGG>TGA p.W452* NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 452 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TGCATTTGGACCAGGGCTTAG 0.433000 ADAMTS5 11096 broad.mit.edu 37 21 28337871 28337871 + Silent SNP C C T rs151274956 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:28337871C>T uc002ymg.2 - 1 1569 c.840G>A c.(838-840)GCG>GCA p.A280A NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 280 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CATACAACCGCGCCATGGACG 0.682000 N6AMT1 29104 broad.mit.edu 37 21 30250634 30250634 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:30250634C>G uc002ymo.1 - 5 444 c.418G>C c.(418-420)GCA>CCA p.A140P N6AMT1_uc002ymp.1_Missense_Mutation_p.A112P|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 140 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 GCCCAAGCTGCCTCTATTCCG 0.383000 C21orf62 56245 broad.mit.edu 37 21 34166443 34166443 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:34166443G>A uc010glz.2 - 4 662 c.290C>T c.(289-291)ACG>ATG p.T97M C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Missense_Mutation_p.T97M|C21orf62_uc011adu.1_Missense_Mutation_p.T97M NM_001162495 NP_001155967 Q9NYP8 CU062_HUMAN hypothetical protein LOC56245 97 ovary(1) 1 Myeloproliferative disorder(46;0.0255) TTGGACCAGCGTGAAGTTCAG 0.552000 OLIG2 10215 broad.mit.edu 37 21 34399327 34399327 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:34399327G>A uc002yqx.1 + 2 315 c.157G>A c.(157-159)GCC>ACC p.A53T NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 53 cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 GGAGCTGAGCGCCGAGCTGCG 0.682000 T TRA@ T-ALL ERG 2078 broad.mit.edu 37 21 39795450 39795450 + Silent SNP G G A rs146525668 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:39795450G>A uc010gnw.2 - 5 586 c.291C>T c.(289-291)GGC>GGT p.G97G ERG_uc002yxa.2_Silent_p.G90G|ERG_uc011aek.1_5'UTR|ERG_uc010gnv.2_5'UTR|ERG_uc010gnx.2_Silent_p.G97G|ERG_uc011ael.1_Silent_p.G97G|ERG_uc002yxb.2_Silent_p.G97G|ERG_uc011aem.1_Silent_p.G90G|ERG_uc002yxc.3_Silent_p.G97G NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 97 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CCATCTTCCCGCCTTTGGCCA 0.517000 MX2 4600 broad.mit.edu 37 21 42771150 42771150 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:42771150G>A uc002yzf.1 + 10 1404 c.1300G>A c.(1300-1302)GAA>AAA p.E434K MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 434 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCAGGACATCGAAAAGTTAGT 0.373000 ABCG1 9619 broad.mit.edu 37 21 43708071 43708071 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:43708071G>A uc002zaq.2 + 9 1152 c.1046G>A c.(1045-1047)TGT>TAT p.C349Y ABCG1_uc002zan.2_Missense_Mutation_p.C351Y|ABCG1_uc002zam.2_Missense_Mutation_p.C327Y|ABCG1_uc002zao.2_Missense_Mutation_p.C346Y|ABCG1_uc002zap.2_Missense_Mutation_p.C349Y|ABCG1_uc002zar.2_Missense_Mutation_p.C360Y|ABCG1_uc011aev.1_Missense_Mutation_p.C360Y|ABCG1_uc010gpb.1_Translation_Start_Site NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 349 Cytoplasmic (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) GAGGGCATGTGTGACTCAGAC 0.572000 LRRC3 81543 broad.mit.edu 37 21 45876981 45876981 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:45876981G>A uc002zfa.2 + 2 747 c.454G>A c.(454-456)GCC>ACC p.A152T NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN leucine-rich repeat-containing 3 precursor 152 LRR 4. integral to membrane protein binding 0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CTGCGAGTGCGCCCTGCAGGA 0.632000 C21orf29 54084 broad.mit.edu 37 21 45953801 45953801 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:45953801G>A uc002zfe.1 - 3 375 c.309C>T c.(307-309)AAC>AAT p.N103N C21orf29_uc010gpv.1_Silent_p.N35N NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 103 TSP N-terminal. cell adhesion extracellular region structural molecule activity 0 GCAGGTACTCGTTCCTCTGTG 0.413000 COL6A2 1292 broad.mit.edu 37 21 47546124 47546124 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:47546124G>A uc002zia.1 + 26 2477 c.2395G>A c.(2395-2397)GAT>AAT p.D799N COL6A2_uc002zhy.1_Missense_Mutation_p.D799N|COL6A2_uc002zhz.1_Missense_Mutation_p.D799N|COL6A2_uc002zib.1_Missense_Mutation_p.D205N|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 799 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GAAGTTCATCGATGACATGGA 0.642000 ARVCF 421 broad.mit.edu 37 22 19967640 19967640 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:19967640C>T uc002zqz.2 - 6 1293 c.1022G>A c.(1021-1023)CGG>CAG p.R341Q ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 341 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) GGGCGAGCGCCGCACCAGCCG 0.746000 DGCR8 54487 broad.mit.edu 37 22 20073637 20073637 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:20073637G>A uc002zri.2 + 2 501 c.151G>A c.(151-153)GTT>ATT p.V51I DGCR8_uc010grz.2_Missense_Mutation_p.V51I|MIR1306_hsa-mir-1306|MI0006443_RNA|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 51 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) GGTAATGGACGTTGGCTCTGG 0.597000 PPM1F 9647 broad.mit.edu 37 22 22277735 22277735 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:22277735G>A uc002zvp.1 - 8 1209 c.1095C>T c.(1093-1095)GTC>GTT p.V365V PPM1F_uc011aik.1_Silent_p.V261V NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 365 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GGTGGGGTACGACGTCAAAGA 0.672000 ZNF280B 140883 broad.mit.edu 37 22 22842147 22842147 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:22842147T>A uc002zwc.1 - 4 2353 c.1577A>T c.(1576-1578)GAC>GTC p.D526V LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TGGTTCAGAGTCAGATGTGCT 0.378000 MMP11 4320 broad.mit.edu 37 22 24122768 24122768 + Splice_Site SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:24122768G>T uc002zxx.2 + 4 505 c.483_splice c.e4-1 p.R161_splice MMP11_uc002zxy.2_Splice_Site|MMP11_uc002zxz.2_5'Flank NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CCCATCTGTAGGTACTGGCAT 0.642000 SMARCB1 6598 broad.mit.edu 37 22 24176339 24176339 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:24176339G>A uc002zyb.2 + 9 1337 c.1130G>A c.(1129-1131)CGT>CAT p.R377H SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R368H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R386H NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 377 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.R377H(4)|p.?(2)|p.R377fs*10(1)|p.L266_*386del(1) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CGGATGAGGCGTCTTGCCAAC 0.647000 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis SUSD2 56241 broad.mit.edu 37 22 24584295 24584295 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:24584295C>T uc002zzn.1 + 14 2488 c.2444C>T c.(2443-2445)ACG>ATG p.T815M NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 815 Cytoplasmic (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AAGGGCAACACGTGAGACCCC 0.657000 CYTSA 23384 broad.mit.edu 37 22 24730508 24730508 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:24730508A>G uc002zzw.2 + 9 2834 c.2527A>G c.(2527-2529)ACC>GCC p.T843A CYTSA_uc002zzv.3_Missense_Mutation_p.T843A|CYTSA_uc011ajq.1_Missense_Mutation_p.T843A NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 843 cell cycle|cell division 0 TACAGTAAAAACCCTCATCAA 0.448000 CCDC157 550631 broad.mit.edu 37 22 30762085 30762085 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:30762085C>T uc011aku.1 + 3 756 c.96C>T c.(94-96)GCC>GCT p.A32A CCDC157_uc011akv.1_Silent_p.A32A NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 32 central_nervous_system(1) 1 TCTCCCGCGCCGGGCCTGTGC 0.657000 SEC14L2 23541 broad.mit.edu 37 22 30812384 30812384 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:30812384C>A uc003ahr.2 + 11 1246 c.1073C>A c.(1072-1074)CCT>CAT p.P358H SEC14L2_uc003ahq.2_Missense_Mutation_p.P358H|SEC14L2_uc011akx.1_Missense_Mutation_p.P304H|SEC14L2_uc003ahs.2_Missense_Mutation_p.P284H|SEC14L2_uc011aky.1_Missense_Mutation_p.P275H|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Missense_Mutation_p.P51H|MTP18_uc003ahv.1_Missense_Mutation_p.P182H|MTP18_uc010gvy.1_Intron NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 358 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) TGCAGTGATCCTGGCATCTGT 0.557000 PES1 23481 broad.mit.edu 37 22 30980667 30980667 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:30980667C>T uc003aij.1 - 5 480 c.406G>A c.(406-408)GAT>AAT p.D136N PES1_uc003aik.1_Missense_Mutation_p.D136N|PES1_uc003ail.1_Missense_Mutation_p.D136N|PES1_uc003aim.1_Missense_Mutation_p.D136N|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 136 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GAGAGGGCATCGTCCAGGTCC 0.617000 SLC35E4 339665 broad.mit.edu 37 22 31032910 31032910 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:31032910G>A uc003ais.1 + 1 1118 c.473G>A c.(472-474)CGC>CAC p.R158H SLC35E4_uc003ait.2_Missense_Mutation_p.R146H NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 158 DUF6.|Leu-rich. integral to membrane 0 CTGGGCCGCCGCCACCACCCA 0.682000 MYH9 4627 broad.mit.edu 37 22 36680233 36680233 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:36680233C>T uc003apg.2 - 40 5902 c.5671G>A c.(5671-5673)GCC>ACC p.A1891T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1891 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CGGCGGGAGGCGTTGGCCCGC 0.657000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated FAM83F 113828 broad.mit.edu 37 22 40417883 40417883 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:40417883G>A uc003ayk.1 + 4 1463 c.1369G>A c.(1369-1371)GCC>ACC p.A457T NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 457 breast(1) 1 CAATGGCATGGCCAGCTCTGT 0.652000 ACO2 50 broad.mit.edu 37 22 41918966 41918966 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:41918966G>A uc003bac.2 + 10 1293 c.1271G>A c.(1270-1272)CGC>CAC p.R424H ACO2_uc003bad.2_Missense_Mutation_p.R449H NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 424 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 GAGCAGATCCGCGCCACCATT 0.622000 TCF20 6942 broad.mit.edu 37 22 42609415 42609415 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:42609415C>T uc003bcj.1 - 1 2031 c.1897G>A c.(1897-1899)GCA>ACA p.A633T TCF20_uc003bck.1_Missense_Mutation_p.A633T|TCF20_uc003bnt.2_Missense_Mutation_p.A633T NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 633 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TGAGTGGCTGCAGGATCATCC 0.542000 TCF20 6942 broad.mit.edu 37 22 42611137 42611137 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:42611137G>A uc003bcj.1 - 1 309 c.175C>T c.(175-177)CGA>TGA p.R59* TCF20_uc003bck.1_Nonsense_Mutation_p.R59*|TCF20_uc003bnt.2_Nonsense_Mutation_p.R59* NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 gctcctcgtcgtccaccacca 0.303000 SMC1B 27127 broad.mit.edu 37 22 45779402 45779402 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:45779402T>G uc003bgc.2 - 12 2055 c.2003A>C c.(2002-2004)GAG>GCG p.E668A SMC1B_uc003bgd.2_Missense_Mutation_p.E668A|SMC1B_uc003bge.1_Missense_Mutation_p.E451A NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 668 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TAACTCTTTCTCATCCCAGCA 0.348000 CELSR1 9620 broad.mit.edu 37 22 46931661 46931661 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:46931661G>A uc003bhw.1 - 1 1407 c.1407C>T c.(1405-1407)CCC>CCT p.P469P NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 469 Extracellular (Potential).|Cadherin 3. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACGTCCTCGGGCACCTGGA 0.657000 TUBGCP6 85378 broad.mit.edu 37 22 50660293 50660293 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:50660293G>A uc003bkb.1 - 16 3007 c.2495C>T c.(2494-2496)CCG>CTG p.P832L TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.P824L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.P28L NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 832 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTCAGGGCCCGGAGACGTGAC 0.627000 MAPK8IP2 23542 broad.mit.edu 37 22 51043425 51043425 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:51043425C>A uc003bmx.2 + 6 1815 c.1698C>A c.(1696-1698)GAC>GAA p.D566E MAPK8IP2_uc003bmy.2_Missense_Mutation_p.D539E|MAPK8IP2_uc011asc.1_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting 566 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding large_intestine(2)|central_nervous_system(1) 3 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTCGCCGGACAGCCCTGACC 0.662000 CNTN6 27255 broad.mit.edu 37 3 1394070 1394070 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:1394070C>A uc003boz.2 + 12 1694 c.1427C>A c.(1426-1428)TCA>TAA p.S476* CNTN6_uc011asj.1_Nonsense_Mutation_p.S404*|CNTN6_uc003bpa.2_Nonsense_Mutation_p.S476* NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 476 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GATGCTGGATCATATACATGC 0.358000 CNTN6 27255 broad.mit.edu 37 3 1445015 1445015 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:1445015A>G uc003boz.2 + 23 3267 c.3000A>G c.(2998-3000)AGA>AGG p.R1000R CNTN6_uc011asj.1_Silent_p.R928R|CNTN6_uc003bpa.2_Silent_p.R1000R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 1000 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGAGTTCCAGAGGAATTCAAT 0.299000 LRRN1 57633 broad.mit.edu 37 3 3887633 3887633 + Silent SNP C C T rs115354749 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:3887633C>T uc003bpt.3 + 2 2069 c.1308C>T c.(1306-1308)AAC>AAT p.N436N SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 436 Ig-like C2-type.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATCGTTTAAACGTGGATATCG 0.468000 ATG7 10533 broad.mit.edu 37 3 11383709 11383709 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:11383709C>A uc003bwc.2 + 11 1198 c.1081C>A c.(1081-1083)CTT>ATT p.L361I ATG7_uc003bwd.2_Missense_Mutation_p.L361I|ATG7_uc011aum.1_Missense_Mutation_p.L322I NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 361 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 ATGTCTGCTGCTTGGAGCCGG 0.473000 HDAC11 79885 broad.mit.edu 37 3 13544421 13544421 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:13544421G>A uc003bxy.2 + 8 723 c.590G>A c.(589-591)CGT>CAT p.R197H HDAC11_uc010heb.2_Missense_Mutation_p.V155M|HDAC11_uc011aux.1_Missense_Mutation_p.R5H|HDAC11_uc011auy.1_Missense_Mutation_p.R146H NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 197 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 GACGACAAGCGTGTGTACATC 0.592000 FBLN2 2199 broad.mit.edu 37 3 13670507 13670507 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:13670507C>T uc011avb.1 + 11 2656 c.2531C>T c.(2530-2532)GCG>GTG p.A844V FBLN2_uc011auz.1_Missense_Mutation_p.A870V|FBLN2_uc011ava.1_Missense_Mutation_p.A891V|FBLN2_uc011avc.1_Missense_Mutation_p.A891V NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 844 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTGATCTGCGCGCGCGGCTAC 0.667000 CHCHD4 131474 broad.mit.edu 37 3 14154633 14154633 + Silent SNP G G A rs148570860 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:14154633G>A uc003byj.3 - 3 378 c.183C>T c.(181-183)AGC>AGT p.S61S CHCHD4_uc003byi.3_Silent_p.S74S NM_001098502 NP_001091972 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain 61 CHCH. protein transport|transmembrane transport mitochondrial intermembrane space 0 CACAGGGACCGCTGGCCATTC 0.493000 C3orf20 84077 broad.mit.edu 37 3 14724408 14724408 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:14724408C>T uc003byy.2 + 3 592 c.188C>T c.(187-189)CCG>CTG p.P63L C3orf20_uc003byz.2_Intron|C3orf20_uc003bza.2_Intron|C3orf20_uc003byx.1_Missense_Mutation_p.P63L NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 63 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GTGCCTACCCCGTCCGACATC 0.512000 BTD 686 broad.mit.edu 37 3 15686554 15686554 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:15686554G>A uc003cah.2 + 4 1294 c.1191G>A c.(1189-1191)GAG>GAA p.E397E BTD_uc011avv.1_Silent_p.E399E|BTD_uc011avw.1_Silent_p.E399E|BTD_uc011avx.1_Silent_p.E377E NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 397 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 TTCACTCTGAGATGATGTATG 0.498000 THRB 7068 broad.mit.edu 37 3 24231679 24231679 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:24231679G>A uc003ccx.3 - 5 518 c.169C>T c.(169-171)CAT>TAT p.H57Y THRB_uc010hfe.2_Missense_Mutation_p.H57Y|THRB_uc003ccy.3_Missense_Mutation_p.H57Y|THRB_uc003ccz.3_Missense_Mutation_p.H52Y|THRB_uc003cdc.2_Missense_Mutation_p.H52Y|THRB_uc003cdd.2_Missense_Mutation_p.H52Y|THRB_uc003cde.1_Missense_Mutation_p.H52Y NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 57 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGATGAGATGTGGCGACGAC 0.498000 NEK10 152110 broad.mit.edu 37 3 27216220 27216220 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:27216220G>T uc010hfk.2 - 6 775 c.546C>A c.(544-546)GCC>GCA p.A182A NEK10_uc003cds.1_Silent_p.A267A|NEK10_uc010hfj.2_Silent_p.A182A Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 870 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TACCATAGGAGGCCTGGAAGC 0.507000 FBXL2 25827 broad.mit.edu 37 3 33416811 33416811 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:33416811G>A uc003cfp.2 + 10 760 c.689G>A c.(688-690)TGC>TAC p.C230Y FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.C125Y|FBXL2_uc011axp.1_Missense_Mutation_p.C146Y|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 230 LRR 7. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity large_intestine(1) 1 GTGCAGATATGCAGGGGCTGT 0.537000 CLASP2 23122 broad.mit.edu 37 3 33633950 33633950 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:33633950T>C uc003cfu.2 - 21 2359 c.2005A>G c.(2005-2007)ATG>GTG p.M669V CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.M244V NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 670 ovary(3)|central_nervous_system(1) 4 GCATTTCCCATGCCAGCAAGT 0.343000 PLCD1 5333 broad.mit.edu 37 3 38049968 38049968 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:38049968C>T uc003chn.2 - 12 2007 c.1883G>A c.(1882-1884)CGG>CAG p.R628Q PLCD1_uc003chm.2_Missense_Mutation_p.R649Q NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 628 C2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GAGCCGCTTCCGTGCCCACCA 0.662000 SLC22A13 9390 broad.mit.edu 37 3 38318562 38318562 + Silent SNP G G A rs1065182 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:38318562G>A uc003chz.3 + 9 1560 c.1506G>A c.(1504-1506)ACG>ACA p.T502T NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 502 Cytoplasmic (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGCCAGAGACGCATGGCCAGG 0.632000 ACVR2B 93 broad.mit.edu 37 3 38518857 38518857 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:38518857C>T uc003cif.2 + 2 156 c.132C>T c.(130-132)AGC>AGT p.S44S ACVR2B_uc003cig.2_5'UTR NM_001106 NP_001097 Q13705 AVR2B_HUMAN activin A receptor, type IIB precursor 44 Extracellular (Potential). activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CCAACCAGAGCGGCCTGGAGC 0.637000 SCN10A 6336 broad.mit.edu 37 3 38755487 38755487 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:38755487G>A uc003ciq.2 - 21 3766 c.3766C>T c.(3766-3768)CGG>TGG p.R1256W NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1256 III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CGCAGTGGCCGCAGAGCGCGA 0.428000 ENTPD3 956 broad.mit.edu 37 3 40442404 40442404 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:40442404C>T uc003ckd.3 + 4 280 c.188C>T c.(187-189)GCC>GTC p.A63V ENTPD3_uc010hhy.2_Missense_Mutation_p.A63V|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 63 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GTGCTGGATGCCGGGTCTTCA 0.478000 ZNF445 353274 broad.mit.edu 37 3 44497024 44497024 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:44497024C>T uc003cnf.2 - 3 366 c.18G>A c.(16-18)TGG>TGA p.W6* ZNF445_uc011azv.1_Nonsense_Mutation_p.W6*|ZNF445_uc011azw.1_Nonsense_Mutation_p.W6* NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 6 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AGGCAGCATGCCACCTGCCTG 0.547000 KIF15 56992 broad.mit.edu 37 3 44893719 44893719 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:44893719A>C uc003cnx.3 + 34 4141 c.3992A>C c.(3991-3993)AAG>ACG p.K1331T KIF15_uc010hiq.2_Missense_Mutation_p.K1234T|KIF15_uc010hir.2_Missense_Mutation_p.K379T NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1331 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ATGTTAAGGAAGCAGGTGGAG 0.393000 CDCP1 64866 broad.mit.edu 37 3 45137008 45137008 + Silent SNP G G A rs145622666 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:45137008G>A uc003com.2 - 5 1212 c.1077C>T c.(1075-1077)ATC>ATT p.I359I NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 359 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GCCGTGGCTCGATGGTGAGTG 0.507000 LAMB2 3913 broad.mit.edu 37 3 49161216 49161216 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:49161216G>A uc003cwe.2 - 24 4041 c.3742C>T c.(3742-3744)CGC>TGC p.R1248C NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1248 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGGTGTTGCGGGCACCTACG 0.627000 UBA7 7318 broad.mit.edu 37 3 49850585 49850585 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:49850585G>A uc003cxr.2 - 4 548 c.377C>T c.(376-378)GCT>GTT p.A126V NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 126 2 approximate repeats.|1-1. 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) CAGCTTTGCAGCAGTCAGCAC 0.602000 GNAT1 2779 broad.mit.edu 37 3 50231007 50231007 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:50231007G>A uc003cym.2 + 4 476 c.360G>A c.(358-360)TCG>TCA p.S120S GNAT1_uc003cyl.2_Silent_p.S120S NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 120 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGGAGATGTCGGACATCATCC 0.612000 C3orf45 132228 broad.mit.edu 37 3 50324510 50324510 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:50324510T>C uc003cyz.2 + 4 399 c.372T>C c.(370-372)AGT>AGC p.S124S NM_153215 NP_694947 Q8N112 CC045_HUMAN hypothetical protein LOC132228 124 integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCTGCAGAGTGAATCCCTGC 0.637000 HYAL1 3373 broad.mit.edu 37 3 50340261 50340261 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:50340261A>G uc003czp.2 - 2 259 c.127T>C c.(127-129)TGC>CGC p.C43R HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.C43R|HYAL1_uc003czr.2_Missense_Mutation_p.C43R|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.C43R|HYAL1_uc003czt.2_Missense_Mutation_p.C43R NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 43 extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) CTCTCCAGGCACCACTGGGTG 0.582000 TLR9 54106 broad.mit.edu 37 3 52256535 52256535 + Silent SNP C C T rs143900156 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:52256535C>T uc003dda.1 - 2 2431 c.1797G>A c.(1795-1797)TCG>TCA p.S599S TLR9_uc003ddb.2_Silent_p.S696S NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 599 Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GGGCCCGCAGCGACGTACTGC 0.612000 NEK4 6787 broad.mit.edu 37 3 52786314 52786314 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:52786314G>T uc003dfq.3 - 7 1191 c.1002C>A c.(1000-1002)GCC>GCA p.A334A NEK4_uc011bej.1_Silent_p.A245A|NEK4_uc003dfr.2_Silent_p.A334A NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 334 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) AGAGACCAGAGGCCCTGGGTT 0.428000 ARHGEF3 50650 broad.mit.edu 37 3 56789110 56789110 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:56789110C>T uc003dig.2 - 3 443 c.274G>A c.(274-276)GCC>ACC p.A92T ARHGEF3_uc011bew.1_Missense_Mutation_p.A92T|ARHGEF3_uc003dih.2_Missense_Mutation_p.A124T|ARHGEF3_uc011bev.1_Missense_Mutation_p.A63T|ARHGEF3_uc003dif.2_Missense_Mutation_p.A98T|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.A92T NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 92 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) CTCGAGGGGGCGGCATTTCTG 0.542000 FLNB 2317 broad.mit.edu 37 3 58141774 58141774 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:58141774C>T uc003djj.2 + 41 7025 c.6860C>T c.(6859-6861)GCC>GTC p.A2287V FLNB_uc010hne.2_Missense_Mutation_p.A2318V|FLNB_uc003djk.2_Missense_Mutation_p.A2276V|FLNB_uc010hnf.2_Missense_Mutation_p.A2263V|FLNB_uc003djl.2_Missense_Mutation_p.A2107V|FLNB_uc003djm.2_Missense_Mutation_p.A2094V NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2287 Filamin 22.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCCGACGACGCCCGCCGCCTC 0.592000 GPR27 2850 broad.mit.edu 37 3 71803351 71803351 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:71803351C>A uc011bge.1 + 1 151 c.151C>A c.(151-153)CGC>AGC p.R51S EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 51 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CAGCCTGCACCGCGCCCCGTA 0.642000 CRYBG3 131544 broad.mit.edu 37 3 97611821 97611821 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:97611821C>T uc003drx.2 + 8 1778 c.1714C>T c.(1714-1716)CGT>TGT p.R572C NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 TGGATCAATTCGTGTCATTGG 0.338000 DZIP3 9666 broad.mit.edu 37 3 108409687 108409687 + Silent SNP C C T rs141475495 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:108409687C>T uc003dxd.2 + 32 3992 c.3570C>T c.(3568-3570)CAC>CAT p.H1190H DZIP3_uc003dxf.1_Silent_p.H1190H|DZIP3_uc011bhm.1_Silent_p.H641H NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 1190 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCAGACTCCACGTTTTGCTAC 0.483000 DPPA2 151871 broad.mit.edu 37 3 109027898 109027898 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:109027898C>A uc003dxo.2 - 5 618 c.371G>T c.(370-372)AGG>ATG p.R124M NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 124 SAP. nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 GTAAGCATGCCTATGAAGCCT 0.428000 C3orf15 89876 broad.mit.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T rs139653997 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:119462963C>T uc003ede.3 + 14 1899 c.1822C>T c.(1822-1824)CGG>TGG p.R608W C3orf15_uc010hqz.2_Missense_Mutation_p.R546W|C3orf15_uc011bjd.1_Missense_Mutation_p.R482W|C3orf15_uc011bje.1_Missense_Mutation_p.R588W NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 444 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) GCGCCAGCGGCGGGTACGAGA 0.587000 PLXNA1 5361 broad.mit.edu 37 3 126724052 126724052 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:126724052C>T uc003ejg.2 + 6 1798 c.1794C>T c.(1792-1794)TCC>TCT p.S598S NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 621 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GCTCACCCTCCGCCCGGGAGG 0.672000 PLXNA1 5361 broad.mit.edu 37 3 126733355 126733355 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:126733355C>T uc003ejg.2 + 12 2574 c.2570C>T c.(2569-2571)ACG>ATG p.T857M NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 880 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGGCGGCACGCGGCTCACT 0.697000 ABTB1 80325 broad.mit.edu 37 3 127399132 127399132 + Silent SNP C C T rs140791161 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:127399132C>T uc003ejt.2 + 12 1339 c.1251C>T c.(1249-1251)TTC>TTT p.F417F ABTB1_uc003ejr.2_Silent_p.F275F|ABTB1_uc003ejs.2_Silent_p.F392F|ABTB1_uc003eju.2_Silent_p.F275F|ABTB1_uc010hsm.2_Silent_p.F144F NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 417 cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 GGGAGGACTTCGTGGAGGCGG 0.682000 MBD4 8930 broad.mit.edu 37 3 129156137 129156137 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:129156137T>G uc003emh.1 - 3 526 c.350A>C c.(349-351)AAG>ACG p.K117T IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.K117T|MBD4_uc003emj.1_Missense_Mutation_p.K117T|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.K117T|IFT122_uc011bkx.1_5'Flank NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 117 MBD. depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 GGATCTGAACTTCAGTCCTTG 0.333000 BER_DNA_glycosylases DNAJC13 23317 broad.mit.edu 37 3 132193825 132193825 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:132193825C>T uc003eor.2 + 22 2406 c.2341C>T c.(2341-2343)CGA>TGA p.R781* NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 781 heat shock protein binding ovary(1)|breast(1) 2 TTTCAAAACACGAGAAGAACT 0.368000 DNAJC13 23317 broad.mit.edu 37 3 132211259 132211259 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:132211259C>T uc003eor.2 + 33 3690 c.3625C>T c.(3625-3627)CGC>TGC p.R1209C NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1209 heat shock protein binding ovary(1)|breast(1) 2 TGATTGTAGGCGCCTGATGAT 0.373000 AMOTL2 51421 broad.mit.edu 37 3 134090119 134090119 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:134090119C>A uc003eqf.2 - 2 448 c.331G>T c.(331-333)GCC>TCC p.A111S AMOTL2_uc003eqg.1_Missense_Mutation_p.A53S|AMOTL2_uc003eqh.1_Missense_Mutation_p.A53S NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 53 large_intestine(1) 1 TCCAGGGAGGCCTGGGGGCTC 0.692000 PPP2R3A 5523 broad.mit.edu 37 3 135721303 135721303 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:135721303C>A uc003eqv.1 + 2 1528 c.963C>A c.(961-963)CCC>CCA p.P321P PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 321 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 AACTGACTCCCTTCTCCCCAG 0.403000 COPB2 9276 broad.mit.edu 37 3 139077962 139077962 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:139077962G>T uc003etf.3 - 19 2492 c.2362C>A c.(2362-2364)CTT>ATT p.L788I COPB2_uc011bmv.1_Missense_Mutation_p.L759I|COPB2_uc010hui.2_Missense_Mutation_p.L759I NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 788 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 GGGTCAGCAAGGGATTCTGCT 0.423000 COPB2 9276 broad.mit.edu 37 3 139090584 139090584 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:139090584A>G uc003etf.3 - 10 1316 c.1186T>C c.(1186-1188)TGG>CGG p.W396R COPB2_uc011bmv.1_Missense_Mutation_p.W367R|COPB2_uc010hui.2_Missense_Mutation_p.W367R NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 396 WD 8. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TCGTGGGCCCATGCAAACTCC 0.458000 SUCNR1 56670 broad.mit.edu 37 3 151599161 151599161 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:151599161A>G uc003ezf.1 + 3 929 c.830A>G c.(829-831)TAC>TGC p.Y277C NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN succinate receptor 1 277 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) AACTCCTTTTACATTGTGACA 0.473000 LRRC31 79782 broad.mit.edu 37 3 169572614 169572614 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:169572614G>A uc003fgc.1 - 6 1055 c.978C>T c.(976-978)GAC>GAT p.D326D LRRC31_uc010hwp.1_Silent_p.D270D NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 326 LRR 4. ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GTGACATCACGTCATCTGCTG 0.403000 NLGN1 22871 broad.mit.edu 37 3 173999004 173999004 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:173999004C>T uc003fio.1 + 7 2806 c.2383C>T c.(2383-2385)CAC>TAC p.H795Y NLGN1_uc003fip.1_Missense_Mutation_p.H795Y NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 812 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TCAGCCCTTACACACATTCAA 0.458000 RTP2 344892 broad.mit.edu 37 3 187416627 187416627 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:187416627T>A uc003fro.1 - 2 766 c.337A>T c.(337-339)AAC>TAC p.N113Y NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 113 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCCTCGATGTTCTCCTCCAGC 0.682000 DLG1 1739 broad.mit.edu 37 3 196817823 196817823 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:196817823C>A uc003fxo.3 - 16 1910 c.1720G>T c.(1720-1722)GGT>TGT p.G574C DLG1_uc011bub.1_Missense_Mutation_p.G458C|DLG1_uc011buc.1_Missense_Mutation_p.G458C|DLG1_uc011bud.1_Missense_Mutation_p.G257C|DLG1_uc003fxn.3_Missense_Mutation_p.G574C|DLG1_uc011bue.1_Missense_Mutation_p.G541C|DLG1_uc010ial.2_Missense_Mutation_p.G574C|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.G541C NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 574 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CGAAGAGAACCTGACCCTGAA 0.323000 KIAA0226 9711 broad.mit.edu 37 3 197408185 197408185 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:197408185A>C uc003fyc.2 - 16 2428 c.2245T>G c.(2245-2247)TGC>GGC p.C749G KIAA0226_uc003fyd.3_Missense_Mutation_p.C704G|KIAA0226_uc003fye.1_Missense_Mutation_p.C481G NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 749 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TCGTGGCAGCACTGGCAGAAG 0.527000 FGFRL1 53834 broad.mit.edu 37 4 1016196 1016196 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:1016196C>T uc003gce.2 + 3 446 c.285C>T c.(283-285)GGC>GGT p.G95G FGFRL1_uc003gcf.2_Silent_p.G95G|FGFRL1_uc003gcg.2_Silent_p.G95G|FGFRL1_uc010ibo.2_Silent_p.G95G NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 95 Ig-like C2-type 1.|Extracellular (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGGATGCCGGCGTGTACGTGT 0.657000 WHSC1 7468 broad.mit.edu 37 4 1980430 1980430 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:1980430C>A uc003gdz.3 + 22 4068 c.3892C>A c.(3892-3894)CTC>ATC p.L1298I WHSC1_uc003geb.3_Missense_Mutation_p.L1298I|WHSC1_uc003gec.3_Missense_Mutation_p.L1298I|WHSC1_uc003ged.3_Missense_Mutation_p.L1298I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.L517I|WHSC1_uc011bvh.1_Missense_Mutation_p.L359I|WHSC1_uc010icf.2_Missense_Mutation_p.L646I NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1298 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ATTTTGCCACCTCTGCCCCAA 0.557000 T IGH@ MM WFS1 7466 broad.mit.edu 37 4 6303935 6303935 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:6303935C>T uc003giy.2 + 8 2579 c.2413C>T c.(2413-2415)CGG>TGG p.R805W WFS1_uc003gix.2_Missense_Mutation_p.R805W|WFS1_uc003giz.2_Missense_Mutation_p.R623W NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 805 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) CATCGTGCTGCGGGCCAGCAG 0.657000 PPP2R2C 5522 broad.mit.edu 37 4 6331024 6331024 + Silent SNP G G A rs145291210 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:6331024G>A uc003gjc.2 - 8 1387 c.1017C>T c.(1015-1017)TTC>TTT p.F339F PPP2R2C_uc003gjb.2_Silent_p.F322F|PPP2R2C_uc011bwd.1_Silent_p.F332F|PPP2R2C_uc011bwe.1_Silent_p.F332F|PPP2R2C_uc003gja.2_Silent_p.F339F NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 339 WD 6. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CAAACTTGTCGAAAATGCAGT 0.592000 CPEB2 132864 broad.mit.edu 37 4 15067820 15067820 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:15067820A>G uc003gni.1 + 11 1673 c.1586A>G c.(1585-1587)GAA>GGA p.E529G CPEB2_uc003gnj.1_Missense_Mutation_p.E499G|CPEB2_uc003gnk.1_Missense_Mutation_p.E537G|CPEB2_uc003gnl.1_Missense_Mutation_p.E510G|CPEB2_uc003gnm.1_Missense_Mutation_p.E507G|CPEB2_uc003gnn.1_Missense_Mutation_p.E502G NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 529 regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 ATGTGTGATGAATGCCAGGGC 0.423000 SEL1L3 23231 broad.mit.edu 37 4 25759394 25759394 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:25759394G>A uc003gru.3 - 22 3254 c.3102C>T c.(3100-3102)AAC>AAT p.N1034N SEL1L3_uc003grt.2_Silent_p.N82N|SEL1L3_uc003grv.2_Silent_p.N441N NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 1034 integral to membrane binding 0 AGGACTCCTCGTTACTGTGGC 0.567000 RFC1 5981 broad.mit.edu 37 4 39308307 39308307 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:39308307A>T uc003gty.1 - 14 2037 c.1903T>A c.(1903-1905)TTT>ATT p.F635I RFC1_uc003gtx.1_Missense_Mutation_p.F634I NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 635 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TTGCCGGAAAATTTACCAAAC 0.448000 SHISA3 152573 broad.mit.edu 37 4 42403209 42403209 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:42403209C>A uc003gwp.2 + 2 676 c.458C>A c.(457-459)ACC>AAC p.T153N NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 153 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CTGACCTCCACCAGCCCCAGG 0.647000 GABRB1 2560 broad.mit.edu 37 4 47427857 47427857 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:47427857G>A uc003gxh.2 + 9 1621 c.1247G>A c.(1246-1248)CGC>CAC p.R416H GABRB1_uc011bze.1_Missense_Mutation_p.R346H NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 416 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCTACGGGCGCGCCCTGGAC 0.642000 CLOCK 9575 broad.mit.edu 37 4 56345050 56345050 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:56345050C>T uc003haz.1 - 7 1114 c.188G>A c.(187-189)GGT>GAT p.G63D CLOCK_uc003hba.1_Missense_Mutation_p.G63D NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 63 Helix-loop-helix motif. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) tctagcattaccaggaagcat 0.149000 UGT2B10 7365 broad.mit.edu 37 4 69696564 69696564 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:69696564T>C uc003hee.2 + 6 1579 c.1554T>C c.(1552-1554)TTT>TTC p.F518F UGT2B10_uc011cam.1_Silent_p.F434F NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 518 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TCTGGAAGTTTGCTAGAAAAG 0.393000 NPFFR2 10886 broad.mit.edu 37 4 72897770 72897770 + Missense_Mutation SNP G G T rs146044348 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:72897770G>T uc003hgg.2 + 1 250 c.152G>T c.(151-153)AGC>ATC p.S51I NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 51 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CTGGAGTGGAGCAGGCAGTCC 0.677000 C4orf26 152816 broad.mit.edu 37 4 76481344 76481344 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:76481344G>C uc003hip.1 + 1 87 c.52G>C c.(52-54)GTA>CTA p.V18L C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.V18L NM_178497 NP_848592 Q17RF5 CD026_HUMAN hypothetical protein LOC152816 precursor 18 extracellular region 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTGGTTGGTGGTAACTGTGGC 0.443000 SHROOM3 57619 broad.mit.edu 37 4 77663059 77663059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:77663059G>A uc011cbx.1 + 5 4686 c.3733G>A c.(3733-3735)GCC>ACC p.A1245T SHROOM3_uc011cbz.1_Missense_Mutation_p.A1069T|SHROOM3_uc003hkf.1_Missense_Mutation_p.A1120T|SHROOM3_uc003hkg.2_Missense_Mutation_p.A1023T NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1245 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GTCATCTCCCGCCACCGCAGA 0.657000 WDFY3 23001 broad.mit.edu 37 4 85707176 85707176 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:85707176G>A uc003hpd.2 - 24 4426 c.4018C>T c.(4018-4020)CGG>TGG p.R1340W NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1340 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TACACTTTCCGGATTCTTGCC 0.463000 KLHL8 57563 broad.mit.edu 37 4 88091723 88091723 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:88091723A>G uc011cdb.1 - 7 1638 c.1253T>C c.(1252-1254)ATT>ACT p.I418T KLHL8_uc003hql.1_Missense_Mutation_p.I418T|KLHL8_uc003hqm.1_Missense_Mutation_p.I342T|KLHL8_uc003hqn.1_Missense_Mutation_p.I235T|KLHL8_uc010ikj.1_Missense_Mutation_p.I67T NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 418 Kelch 3. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TAACCCTCCAATTGCATAAAT 0.413000 ADAD1 132612 broad.mit.edu 37 4 123302332 123302332 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:123302332A>G uc003ieo.2 + 4 590 c.358A>G c.(358-360)ACA>GCA p.T120A ADAD1_uc003iep.2_Missense_Mutation_p.T120A|ADAD1_uc003ieq.2_Missense_Mutation_p.T102A NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 120 DRBM. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 AACTGTGACAACAGGCAAGTG 0.353000 FAT4 79633 broad.mit.edu 37 4 126238516 126238516 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:126238516G>A uc003ifj.3 + 1 950 c.950G>A c.(949-951)CGC>CAC p.R317H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 317 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAAGCTCGGCGCCAATACTCG 0.627000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HHIP 64399 broad.mit.edu 37 4 145629414 145629414 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:145629414A>G uc003ijs.1 + 7 1907 c.1252A>G c.(1252-1254)ACC>GCC p.T418A NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 418 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTTCAACAGCACCAACCAGCC 0.542000 DCHS2 54798 broad.mit.edu 37 4 155243618 155243618 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:155243618C>A uc003inw.2 - 13 2676 c.2676G>T c.(2674-2676)AAG>AAT p.K892N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 892 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGCGTCAATCTTAAAGTGAT 0.348000 FNIP2 57600 broad.mit.edu 37 4 159756589 159756589 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:159756589G>T uc003iqe.3 + 7 871 c.688G>T c.(688-690)GGA>TGA p.G230* NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 230 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCCAAGCAGAGGACAGAATGA 0.408000 SC4MOL 6307 broad.mit.edu 37 4 166254715 166254715 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:166254715T>C uc003ire.2 + 2 323 c.193T>C c.(193-195)TTC>CTC p.F65L SC4MOL_uc010irb.2_Missense_Mutation_p.F65L|SC4MOL_uc003irf.2_Intron NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 65 Helical; (Potential). cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) TTATTTCTTATTCTGTTTACC 0.274000 ODZ3 55714 broad.mit.edu 37 4 183714323 183714323 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:183714323C>A uc003ivd.1 + 25 6535 c.6498C>A c.(6496-6498)AAC>AAA p.N2166K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2166 Extracellular (Potential).|YD 19. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ACCCAAGTAACAGTGCGCGTC 0.453000 EXOC3 11336 broad.mit.edu 37 5 464452 464452 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:464452C>T uc003jba.2 + 10 1829 c.1701C>T c.(1699-1701)AAC>AAT p.N567N NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 578 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TAGGGTCAAACGCTGTAGACA 0.418000 CDH6 1004 broad.mit.edu 37 5 31297469 31297469 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:31297469C>A uc003jhe.1 + 4 923 c.597C>A c.(595-597)TAC>TAA p.Y199* CDH6_uc003jhd.1_Nonsense_Mutation_p.Y199* NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 199 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AAGTTGTCTACAGTATTCTAC 0.353000 ITGA1 3672 broad.mit.edu 37 5 52194127 52194127 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:52194127A>G uc003jou.2 + 11 1275 c.1223A>G c.(1222-1224)CAG>CGG p.Q408R ITGA1_uc003jov.2_RNA NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 408 Extracellular (Potential).|FG-GAP 3. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GTTGTCATGCAGAAGGCTAGT 0.348000 SNX18 112574 broad.mit.edu 37 5 53815059 53815059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:53815059G>A uc003jpj.3 + 1 1467 c.1277G>A c.(1276-1278)AGC>AAC p.S426N SNX18_uc011cqg.1_Missense_Mutation_p.S426N|SNX18_uc003jpi.3_Missense_Mutation_p.S426N NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 426 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) GAGGTGGAGAGCAAGATCGAC 0.632000 C5orf35 133383 broad.mit.edu 37 5 56209750 56209750 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:56209750A>G uc003jqx.2 + 4 1013 c.640A>G c.(640-642)ACA>GCA p.T214A C5orf35_uc003jqy.2_RNA NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 214 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) GAGTGATAGTACATGGCTAAC 0.413000 VCAN 1462 broad.mit.edu 37 5 82835591 82835591 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:82835591G>T uc003kii.3 + 8 7125 c.6769G>T c.(6769-6771)GGA>TGA p.G2257* VCAN_uc003kij.3_Nonsense_Mutation_p.G1270*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.G921* NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2257 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTCTGGACTGGGATCAGGAGA 0.378000 POU5F2 134187 broad.mit.edu 37 5 93076993 93076993 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:93076993G>A uc003kkl.1 - 1 317 c.277C>T c.(277-279)CGA>TGA p.R93* FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 93 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GAGGGGCGTCGCAACCAGTCC 0.652000 DMXL1 1657 broad.mit.edu 37 5 118507479 118507479 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:118507479T>C uc003ksd.2 + 25 6677 c.6496T>C c.(6496-6498)TCA>CCA p.S2166P DMXL1_uc010jcl.1_Missense_Mutation_p.S2166P NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2166 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TAAGGAAACATCAGAACCACT 0.378000 ZNF474 133923 broad.mit.edu 37 5 121488779 121488779 + Nonstop_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:121488779A>G uc003ksv.2 + 2 1470 c.1094A>G c.(1093-1095)TAG>TGG p.*365W NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 365 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CTCTGCCTGTAGGGGAACAAG 0.483000 GFRA3 2676 broad.mit.edu 37 5 137593489 137593489 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:137593489G>A uc003lcn.2 - 4 764 c.624C>T c.(622-624)GCC>GCT p.A208A GFRA3_uc003lco.2_Silent_p.A177A NM_001496 NP_001487 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 preproprotein 208 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGTGGGGCTCGGCGGCCTTCT 0.726000 SLC23A1 9963 broad.mit.edu 37 5 138715024 138715024 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:138715024C>A uc003leh.2 - 9 1042 c.945G>T c.(943-945)ACG>ACT p.T315T SLC23A1_uc003leg.2_Silent_p.T319T NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 315 Helical; (Potential). brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CCGCAGTCACCGTGGGCAGGC 0.602000 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139886500 139886500 + Silent SNP G G A rs138245853 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:139886500G>A uc003lfs.1 + 19 3613 c.3489G>A c.(3487-3489)GCG>GCA p.A1163A ANKHD1_uc003lfq.1_Silent_p.A1182A|ANKHD1_uc003lfr.2_Silent_p.A1163A|ANKHD1_uc003lft.1_Silent_p.A374A|ANKHD1_uc003lfu.1_Silent_p.A643A|ANKHD1_uc003lfv.1_Silent_p.A240A|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1163 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTAGCTGCGTCTGGAGGAT 0.373000 APBB3 10307 broad.mit.edu 37 5 139938321 139938321 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:139938321C>A uc003lgd.1 - 12 1684 c.1325G>T c.(1324-1326)CGG>CTG p.R442L SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.R214L|APBB3_uc003lgc.1_Missense_Mutation_p.R214L|APBB3_uc003lge.1_Missense_Mutation_p.R435L|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.R214L NM_133172 NP_573418 O95704 APBB3_HUMAN amyloid beta precursor protein-binding, family 437 PID 2. actin cytoskeleton|cytoplasm ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGTCCGCTTGAGCCG 0.667000 PCDHA2 56146 broad.mit.edu 37 5 140176039 140176039 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140176039G>A uc003lhd.2 + 1 1596 c.1490G>A c.(1489-1491)CGG>CAG p.R497Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R497Q|PCDHA2_uc011czy.1_Missense_Mutation_p.R497Q NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 497 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGGTGGGC 0.672000 PCDHA3 56145 broad.mit.edu 37 5 140182650 140182650 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140182650G>A uc003lhf.2 + 1 1868 c.1868G>A c.(1867-1869)CGC>CAC p.R623H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R623H NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 623 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCCGTTTCGCGTGGGGCTG 0.657000 PCDHA6 56142 broad.mit.edu 37 5 140208784 140208784 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140208784G>A uc003lho.2 + 1 1135 c.1108G>A c.(1108-1110)GCC>ACC p.A370T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A370T|PCDHA6_uc011dab.1_Missense_Mutation_p.A370T NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 370 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGTCATCGCCCTAATTAG 0.483000 PCDHA7 56141 broad.mit.edu 37 5 140215475 140215475 + Missense_Mutation SNP G G A rs147416989 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140215475G>A uc003lhq.2 + 1 1507 c.1507G>A c.(1507-1509)GCG>ACG p.A503T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A503T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGAGCGCGCGCTGTCGAG 0.677000 PCDHA12 56137 broad.mit.edu 37 5 140256960 140256960 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140256960C>T uc003lic.2 + 1 2030 c.1903C>T c.(1903-1905)CGC>TGC p.R635C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R635C NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCACGACACGCATCCTGGA 0.677000 PCDHB2 56133 broad.mit.edu 37 5 140476279 140476279 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140476279C>T uc003lil.2 + 1 2043 c.1905C>T c.(1903-1905)CGC>CGT p.R635R PCDHB2_uc003lim.1_Silent_p.R296R NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 635 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGGGAGCGCGACGCTGCCA 0.697000 PCDHB7 56129 broad.mit.edu 37 5 140553151 140553151 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140553151G>A uc003lit.2 + 1 909 c.735G>A c.(733-735)TCG>TCA p.S245S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 245 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTGCGGTCGCTCTACAAGG 0.542000 PCDHB16 57717 broad.mit.edu 37 5 140562820 140562820 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140562820G>A uc003liv.2 + 1 1841 c.686G>A c.(685-687)CGT>CAT p.R229H PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 229 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCAGGTCCGTATTGAAGTG 0.527000 PCDHB16 57717 broad.mit.edu 37 5 140564112 140564112 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140564112G>A uc003liv.2 + 1 3133 c.1978G>A c.(1978-1980)GTG>ATG p.V660M PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 660 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACGCTGCACGTGCTCCTGGT 0.706000 PCDHB13 56123 broad.mit.edu 37 5 140595831 140595831 + Silent SNP G G A rs145378952 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140595831G>A uc003lja.1 + 1 2323 c.2136G>A c.(2134-2136)CGG>CGA p.R712R NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 712 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCGGTGCGGCTGTGTAGGA 0.662000 PCDHB15 56121 broad.mit.edu 37 5 140627138 140627138 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140627138C>T uc003lje.2 + 1 1992 c.1992C>T c.(1990-1992)GAC>GAT p.D664D NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 664 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGGTGGACGGCTTCTCTC 0.687000 PCDHGB1 56104 broad.mit.edu 37 5 140730146 140730146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140730146G>A uc003ljo.1 + 1 319 c.319G>A c.(319-321)GCT>ACT p.A107T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A107T NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 107 Cadherin 1.|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) CGAAACGGTCGCTGAAAACCC 0.418000 PCDHGA4 56111 broad.mit.edu 37 5 140735645 140735645 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140735645A>C uc003ljq.1 + 1 878 c.878A>C c.(877-879)CAG>CCG p.Q293P 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.Q293P NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 293 Cadherin 3.|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) CAGCTATTTCAGTTGAATTCT 0.443000 PCDHGA4 56111 broad.mit.edu 37 5 140736919 140736919 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140736919C>T uc003ljq.1 + 1 2152 c.2152C>T c.(2152-2154)CGC>TGC p.R718C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R718C|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 718 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGCTGAGACGCTGGCACAA 0.617000 PCDHGB2 56103 broad.mit.edu 37 5 140739977 140739977 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140739977G>A uc003ljs.1 + 1 275 c.275G>A c.(274-276)CGA>CAA p.R92Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.R92Q NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 92 Extracellular (Potential).|Cadherin 1. 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) AGAATAGACCGAGAACAGATA 0.473000 PCDHGA5 56110 broad.mit.edu 37 5 140745880 140745880 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140745880C>T uc003lju.1 + 1 1983 c.1983C>T c.(1981-1983)ACC>ACT p.T661T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T661T NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 661 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACGGTCACCGTTGCCGTGG 0.622000 PCDHGA5 56110 broad.mit.edu 37 5 140746290 140746290 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140746290A>C uc003lju.1 + 1 2393 c.2393A>C c.(2392-2394)GAT>GCT p.D798A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D798A NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 798 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAAGGTAGATGCAAACAAA 0.428000 PCDHGA6 56109 broad.mit.edu 37 5 140754085 140754085 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140754085C>T uc003ljy.1 + 1 435 c.435C>T c.(433-435)AAC>AAT p.N145N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.N145N NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 145 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCGAAAACGCAGCTCCAT 0.413000 PCDHGA6 56109 broad.mit.edu 37 5 140755360 140755360 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140755360C>T uc003ljy.1 + 1 1710 c.1710C>T c.(1708-1710)GAC>GAT p.D570D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D570D NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 570 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.667000 PCDHGB5 56101 broad.mit.edu 37 5 140778577 140778577 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140778577G>A uc003lkf.1 + 1 883 c.883G>A c.(883-885)GGA>AGA p.G295R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G295R NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 295 Extracellular (Potential).|Cadherin 3. 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) TTCAAAGAGCGGAGAAATTAC 0.433000 PCDHGA12 26025 broad.mit.edu 37 5 140811976 140811976 + Silent SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140811976G>C uc003lkt.1 + 1 1819 c.1650G>C c.(1648-1650)CTG>CTC p.L550L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L550L NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 550 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTGAGCCTGTTCGTGCTGG 0.642000 PCDHGA12 26025 broad.mit.edu 37 5 140812146 140812146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140812146G>A uc003lkt.1 + 1 1989 c.1820G>A c.(1819-1821)CGT>CAT p.R607H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R607H NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 607 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTCCTACCGTCTGCTCAAG 0.697000 PCDHGC3 5098 broad.mit.edu 37 5 140856225 140856225 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:140856225C>T uc003lkv.1 + 1 657 c.542C>T c.(541-543)GCG>GTG p.A181V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.A181V|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 181 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATACTTTGCGCTTCGCGTG 0.607000 ABLIM3 22885 broad.mit.edu 37 5 148619396 148619396 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:148619396C>T uc003lpy.2 + 13 1400 c.1149C>T c.(1147-1149)AGC>AGT p.S383S ABLIM3_uc003lpz.1_Silent_p.S383S|ABLIM3_uc003lqa.1_Silent_p.S329S|ABLIM3_uc003lqb.2_Silent_p.S321S|ABLIM3_uc003lqc.1_Silent_p.S383S|ABLIM3_uc003lqd.1_Silent_p.S321S|ABLIM3_uc003lqf.2_Silent_p.S321S|ABLIM3_uc003lqe.1_Silent_p.S321S NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 383 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTACAGCCGGCAGGGCA 0.632000 GPX3 2878 broad.mit.edu 37 5 150400298 150400298 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:150400298C>T uc011dcm.1 + 1 300 c.83C>T c.(82-84)TCG>TTG p.S28L GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA NM_002084 NP_002075 P22352 GPX3_HUMAN glutathione peroxidase 3 precursor 28 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CAAGAGAAGTCGAAGGTGAGT 0.687000 G3BP1 10146 broad.mit.edu 37 5 151183470 151183470 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:151183470C>T uc003lun.2 + 12 1390 c.1219C>T c.(1219-1221)CGT>TGT p.R407C G3BP1_uc003lum.2_Missense_Mutation_p.R407C|G3BP1_uc011dcu.1_Missense_Mutation_p.R225C|G3BP1_uc010jhz.2_Missense_Mutation_p.R225C|G3BP1_uc003luq.2_Missense_Mutation_p.R75C NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 407 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) AGGTGAGGTCCGTCTGAATGT 0.522000 MRPL22 29093 broad.mit.edu 37 5 154346305 154346305 + Missense_Mutation SNP C C T rs113240119 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:154346305C>T uc003lvy.3 + 7 507 c.469C>T c.(469-471)CGC>TGC p.R157C MRPL22_uc003lvz.3_Missense_Mutation_p.R77C NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 157 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGCAGAGGTCGCTTTGGGAT 0.512000 ODZ2 57451 broad.mit.edu 37 5 167379678 167379678 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:167379678C>T uc010jjd.2 + 4 798 c.798C>T c.(796-798)TCC>TCT p.S266S ODZ2_uc003lzq.2_Silent_p.S145S|ODZ2_uc003lzr.3_Silent_p.S75S NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACCACTCGTCCGCCAACTCCC 0.622000 SLIT3 6586 broad.mit.edu 37 5 168096798 168096798 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:168096798G>C uc003mab.2 - 35 4746 c.4326C>G c.(4324-4326)CAC>CAG p.H1442Q SLIT3_uc010jjg.2_Missense_Mutation_p.H1449Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1442 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTGTTGGCAGTGCTCGCCGC 0.468000 ZNF354B 117608 broad.mit.edu 37 5 178310319 178310319 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:178310319T>C uc003mjl.2 + 5 1092 c.866T>C c.(865-867)TTA>TCA p.L289S ZNF354B_uc003mjm.2_Missense_Mutation_p.L289S NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 289 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTAAGCATTTAAGGACCCAT 0.383000 GRM6 2916 broad.mit.edu 37 5 178410024 178410024 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:178410024C>T uc003mjr.2 - 9 2502 c.2323G>A c.(2323-2325)GTG>ATG p.V775M GRM6_uc003mjq.2_Missense_Mutation_p.V178M NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 775 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GTCTCGGGCACGCCACGGGCC 0.597000 TBC1D9B 23061 broad.mit.edu 37 5 179302056 179302056 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:179302056C>T uc003mlh.2 - 12 2069 c.2032G>A c.(2032-2034)GTC>ATC p.V678I TBC1D9B_uc003mli.2_Missense_Mutation_p.V678I|TBC1D9B_uc003mlj.2_Missense_Mutation_p.V678I|TBC1D9B_uc011dgv.1_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 678 Helical; (Potential).|Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGGCATGACGCTGAGGAAG 0.602000 SLC22A23 63027 broad.mit.edu 37 6 3324124 3324124 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:3324124C>T uc003mvm.3 - 4 1026 c.1026G>A c.(1024-1026)TGG>TGA p.W342* SLC22A23_uc003mvn.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.W61*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.W342*|SLC22A23_uc010jno.2_Nonsense_Mutation_p.W342* NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 342 ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) GCAGCACCTGCCAATCCCGGC 0.632000 KDM1B 221656 broad.mit.edu 37 6 18208403 18208403 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:18208403C>A uc003nco.1 + 10 1298 c.1223C>A c.(1222-1224)ACC>AAC p.T408N KDM1B_uc003ncn.1_Missense_Mutation_p.T379N NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 611 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 GTGCAGGTTACCACTACAGAT 0.473000 ZNF184 7738 broad.mit.edu 37 6 27420689 27420689 + Nonsense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:27420689T>A uc003njj.2 - 5 1460 c.649A>T c.(649-651)AAA>TAA p.K217* ZNF184_uc010jqv.2_Nonsense_Mutation_p.K217*|ZNF184_uc003nji.2_Nonsense_Mutation_p.K217* NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCTCTTTTTTAACTGGGTTT 0.378000 OR12D2 26529 broad.mit.edu 37 6 29364789 29364789 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:29364789C>T uc003nmf.3 + 1 374 c.313C>T c.(313-315)CTG>TTG p.L105L NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTCCACTCCCTGGGCAGCAC 0.493000 VARS 7407 broad.mit.edu 37 6 31746992 31746992 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:31746992C>T uc003nxe.2 - 29 3901 c.3478G>A c.(3478-3480)GCA>ACA p.A1160T C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.A97T NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 1160 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) ACCACACCTGCGCTGGCCAGG 0.687000 COL11A2 1302 broad.mit.edu 37 6 33133371 33133371 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:33133371G>A uc003ocx.1 - 63 4933 c.4705C>T c.(4705-4707)CGC>TGC p.R1569C COL11A2_uc010jul.1_Missense_Mutation_p.R139C|COL11A2_uc003ocy.1_Missense_Mutation_p.R1483C|COL11A2_uc003ocz.1_Missense_Mutation_p.R1462C NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1569 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TGGCAGGTGCGAGCAGGGCTG 0.622000 DAXX 1616 broad.mit.edu 37 6 33289268 33289268 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:33289268G>A uc003oec.2 - 3 488 c.284C>T c.(283-285)GCC>GTC p.A95V DAXX_uc011drd.1_Missense_Mutation_p.A20V|DAXX_uc011dre.1_Missense_Mutation_p.A107V|DAXX_uc003oed.2_Missense_Mutation_p.A95V|DAXX_uc010juw.2_Missense_Mutation_p.A20V NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 95 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 CAGAGAGTGGGCACGTTGCTG 0.517000 Mis|F|N Pancreatic neuroendocrine tumors ITPR3 3710 broad.mit.edu 37 6 33662760 33662760 + Silent SNP C C T rs141751520 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:33662760C>T uc011drk.1 + 57 8064 c.7845C>T c.(7843-7845)GGC>GGT p.G2615G C6orf125_uc003oez.1_RNA NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2615 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 GCAATGAGGGCGAGGGGGAGC 0.582000 LRFN2 57497 broad.mit.edu 37 6 40399690 40399690 + Missense_Mutation SNP C C T rs148386118 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:40399690C>T uc003oph.1 - 2 1628 c.1163G>A c.(1162-1164)CGC>CAC p.R388H NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 388 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGTGCAGTGCGGCTGGTGCT 0.662000 FOXP4 116113 broad.mit.edu 37 6 41533594 41533594 + Silent SNP C C T rs149894394 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:41533594C>T uc003oql.2 + 2 554 c.96C>T c.(94-96)GGC>GGT p.G32G FOXP4_uc003oqm.2_Silent_p.G32G|FOXP4_uc003oqn.2_Silent_p.G32G NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 32 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) GCAGCAGCGGCGGGGCCACAG 0.627000 CUL9 23113 broad.mit.edu 37 6 43190359 43190359 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:43190359G>T uc003ouk.2 + 37 7087 c.7012G>T c.(7012-7014)GGA>TGA p.G2338* CUL9_uc003oul.2_Nonsense_Mutation_p.G2310*|CUL9_uc010jyk.2_Nonsense_Mutation_p.G1490*|CUL9_uc003oun.2_Nonsense_Mutation_p.G133* NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2338 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TGCCTGCCAGGGACTGGAGCA 0.612000 BAI3 577 broad.mit.edu 37 6 69759195 69759195 + Missense_Mutation SNP G G A rs112866971 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:69759195G>A uc003pev.3 + 15 2738 c.2290G>A c.(2290-2292)GCA>ACA p.A764T BAI3_uc010kak.2_Missense_Mutation_p.A764T NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 764 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGTTCTTGGCGCAGTCCTATA 0.274000 B3GAT2 135152 broad.mit.edu 37 6 71571627 71571627 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:71571627C>T uc003pfv.2 - 3 1447 c.791G>A c.(790-792)CGT>CAT p.R264H SMAP1_uc003pfr.2_3'UTR|SMAP1_uc003pfs.2_3'UTR|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_3'UTR|B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R264H NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 264 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGATCCACGACGCTTAAATAC 0.373000 RIMS1 22999 broad.mit.edu 37 6 72892034 72892034 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:72892034A>G uc003pga.2 + 6 937 c.860A>G c.(859-861)AAG>AGG p.K287R RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 287 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGAGCCCTGAAGAGCGAGCGG 0.537000 RIMS1 22999 broad.mit.edu 37 6 72892074 72892074 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:72892074C>T uc003pga.2 + 6 977 c.900C>T c.(898-900)CCC>CCT p.P300P RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 300 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAGCGCAGCCCGTGGAGGGGG 0.572000 TPBG 7162 broad.mit.edu 37 6 83075087 83075087 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:83075087G>A uc003pjn.3 + 3 1345 c.409G>A c.(409-411)GCC>ACC p.A137T TPBG_uc010kbj.2_Missense_Mutation_p.A137T|TPBG_uc003pjo.2_Missense_Mutation_p.A137T NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 137 Extracellular (Potential).|LRR 2. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GCGCGCGGGCGCCTTCGAGCA 0.736000 TBX18 9096 broad.mit.edu 37 6 85446535 85446535 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:85446535C>T uc003pkl.1 - 8 1692 c.1692G>A c.(1690-1692)ACG>ACA p.T564T TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 564 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCTGCCGATCCGTCATGGTCC 0.522000 TBX18 9096 broad.mit.edu 37 6 85473619 85473619 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:85473619C>T uc003pkl.1 - 1 281 c.281G>A c.(280-282)CGC>CAC p.R94H TBX18_uc010kbq.1_5'Flank NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 94 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CGCGGCTCCGCGCTCCAGGTC 0.667000 RRAGD 58528 broad.mit.edu 37 6 90097168 90097168 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:90097168G>A uc003pnd.3 - 2 573 c.290C>T c.(289-291)ACT>ATT p.T97I RRAGD_uc010kcc.2_Intron NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 97 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) TATCTTATTAGTGCTCTCCAA 0.438000 SFRS18 25957 broad.mit.edu 37 6 99848984 99848984 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:99848984C>T uc003ppo.3 - 12 2078 c.1850G>A c.(1849-1851)CGT>CAT p.R617H SFRS18_uc003ppl.2_Missense_Mutation_p.R163H|SFRS18_uc003ppp.3_Missense_Mutation_p.R617H|SFRS18_uc011eag.1_Missense_Mutation_p.R617H NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 617 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) TCTACTTCTACGTCTCTCTCG 0.438000 BEND3 57673 broad.mit.edu 37 6 107389968 107389968 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:107389968G>A uc003prs.2 - 5 3077 c.2427C>T c.(2425-2427)TGC>TGT p.C809C NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 809 BEN 4. ovary(3) 3 TGGGGCGGCGGCACCTCTCAT 0.582000 SOBP 55084 broad.mit.edu 37 6 107955723 107955723 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:107955723G>A uc003prx.2 + 6 2179 c.1675G>A c.(1675-1677)GGG>AGG p.G559R NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 559 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCCAGCAACGGGGAGAACTT 0.687000 GPR6 2830 broad.mit.edu 37 6 110300781 110300781 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:110300781G>A uc011eaw.1 + 2 646 c.466G>A c.(466-468)GTC>ATC p.V156I GPR6_uc011eav.1_Missense_Mutation_p.V171I|GPR6_uc003ptu.2_Missense_Mutation_p.V156I NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 156 Helical; Name=3; (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) CGCCGCCTCTGTCAGCAGCCT 0.612000 WISP3 8838 broad.mit.edu 37 6 112375318 112375318 + Translation_Start_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:112375318G>A uc003pvm.2 + 1 41 c.-69G>A c.(-71--67)CTGTG>CTATG WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_5'Flank NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTCCTGACCTGTGACACGCTC 0.493000 LAMA4 3910 broad.mit.edu 37 6 112476147 112476147 + Silent SNP C C T rs140246538 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:112476147C>T uc003pvu.2 - 16 2271 c.1962G>A c.(1960-1962)GCG>GCA p.A654A LAMA4_uc003pvv.2_Silent_p.A647A|LAMA4_uc003pvt.2_Silent_p.A647A NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 654 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCCACTCACCGCCTACAAAG 0.383000 FRK 2444 broad.mit.edu 37 6 116288822 116288822 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:116288822G>A uc003pwi.1 - 4 1138 c.691C>T c.(691-693)CGC>TGC p.R231C NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 231 negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATGGAGTTGCGGTCTATCTCC 0.418000 C6orf174 387104 broad.mit.edu 37 6 127836907 127836907 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:127836907C>T uc003qbd.2 - 2 1718 c.853G>A c.(853-855)GGC>AGC p.G285S NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 285 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTACTGCTGCCGCCGCCGTTC 0.706000 LAMA2 3908 broad.mit.edu 37 6 129835564 129835564 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:129835564A>G uc003qbn.2 + 63 9140 c.9035A>G c.(9034-9036)TAT>TGT p.Y3012C LAMA2_uc003qbo.2_Missense_Mutation_p.Y3008C|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 3012 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACTGCTGTCTATGATGCTGGG 0.453000 SLC2A12 154091 broad.mit.edu 37 6 134349555 134349555 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:134349555C>T uc003qem.1 - 2 1579 c.1408G>A c.(1408-1410)GTT>ATT p.V470I NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 470 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GCAACATAAACAAGCAAGCTG 0.423000 SGK1 6446 broad.mit.edu 37 6 134583282 134583282 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:134583282C>T uc003qeo.3 - 2 672 c.74G>A c.(73-75)CGA>CAA p.R25Q SGK1_uc003qep.2_Missense_Mutation_p.R25Q NM_001143676 NP_001137148 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform Error:Variant_position_missing_in_O00141_after_alignment apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GATCCACCTTCGTACCTGCAA 0.502000 BCLAF1 9774 broad.mit.edu 37 6 136597275 136597275 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:136597275T>C uc003qgx.1 - 5 1641 c.1388A>G c.(1387-1389)GAG>GGG p.E463G BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.E461G|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E461G NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 463 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATATCCAGTCTCTTTAAGTTT 0.338000 BCLAF1 9774 broad.mit.edu 37 6 136599781 136599781 + Missense_Mutation SNP A A G rs142177067 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:136599781A>G uc003qgx.1 - 4 491 c.238T>C c.(238-240)TAT>CAT p.Y80H BCLAF1_uc003qgw.1_Missense_Mutation_p.Y80H|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y78H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y78H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 80 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTTGATAATACCCTCTACCC 0.453000 HECA 51696 broad.mit.edu 37 6 139487628 139487628 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:139487628G>A uc003qin.2 + 2 764 c.479G>A c.(478-480)CGC>CAC p.R160H NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 160 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) AAGCAATGCCGCCAGAACATG 0.592000 C6orf211 79624 broad.mit.edu 37 6 151790162 151790162 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:151790162C>T uc003qok.1 + 5 1502 c.1243C>T c.(1243-1245)CAA>TAA p.Q415* C6orf211_uc011ees.1_Nonsense_Mutation_p.Q296* NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 415 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) GCAGCCTGGGCAAGGGGAACA 0.483000 ESR1 2099 broad.mit.edu 37 6 152332821 152332821 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:152332821T>C uc003qom.3 + 7 1497 c.1127T>C c.(1126-1128)GTC>GCC p.V376A ESR1_uc010kin.2_Missense_Mutation_p.V376A|ESR1_uc010kio.2_Missense_Mutation_p.V378A|ESR1_uc010kip.2_Missense_Mutation_p.V375A|ESR1_uc003qon.3_Missense_Mutation_p.V376A|ESR1_uc003qoo.3_Missense_Mutation_p.V376A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.V45A|ESR1_uc011eex.1_Missense_Mutation_p.V157A|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.V113A NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 376 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CATGATCAGGTCCACCTTCTA 0.468000 SYNE1 23345 broad.mit.edu 37 6 152477160 152477160 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:152477160G>A uc010kiw.2 - 132 24465 c.23863C>T c.(23863-23865)CAC>TAC p.H7955Y SYNE1_uc010kiv.2_Missense_Mutation_p.H2479Y|SYNE1_uc003qos.3_Missense_Mutation_p.H2479Y|SYNE1_uc003qot.3_Missense_Mutation_p.H7884Y|SYNE1_uc003qou.3_Missense_Mutation_p.H7955Y|SYNE1_uc003qop.3_Missense_Mutation_p.H117Y|SYNE1_uc011eez.1_Missense_Mutation_p.H157Y|SYNE1_uc003qoq.3_Missense_Mutation_p.H157Y|SYNE1_uc003qor.3_Missense_Mutation_p.H855Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7955 Spectrin 28.|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) TCACAGTCGTGCAGCAGGACT 0.522000 HNSCC(10;0.0054) TULP4 56995 broad.mit.edu 37 6 158914725 158914725 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:158914725G>A uc003qrf.2 + 10 3109 c.1752G>A c.(1750-1752)GAG>GAA p.E584E TULP4_uc003qrg.2_Silent_p.E584E NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 584 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTCGGAGAGAGTTTCCTTTTG 0.662000 TMEM181 57583 broad.mit.edu 37 6 159029369 159029369 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:159029369G>A uc003qrm.3 + 9 1100 c.1089G>A c.(1087-1089)CCG>CCA p.P363P TMEM181_uc010kjr.1_Silent_p.P194P NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 363 Helical; (Potential). pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TTCCAGATCCGTTCTTCCCCC 0.587000 SLC22A3 6581 broad.mit.edu 37 6 160829897 160829897 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:160829897G>A uc003qti.2 + 4 828 c.801G>A c.(799-801)TGG>TGA p.W267* SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 267 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TCCCCAACTGGCAAGGAATCC 0.418000 SLC22A3 6581 broad.mit.edu 37 6 160864677 160864677 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:160864677G>A uc003qti.2 + 9 1440 c.1413G>A c.(1411-1413)TCG>TCA p.S471S SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 471 Helical; (Potential). integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TCGGAGTTTCGCTCTGTTCAG 0.378000 TTLL2 83887 broad.mit.edu 37 6 167752266 167752266 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:167752266G>A uc003qvs.1 + 2 267 c.179G>A c.(178-180)CGC>CAC p.R60H TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 60 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGGCGAGGCCGCCCAACACCA 0.443000 FRMD1 79981 broad.mit.edu 37 6 168457809 168457809 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:168457809C>T uc003qwo.3 - 11 1683 c.1618G>A c.(1618-1620)GGA>AGA p.G540R FRMD1_uc003qwm.3_Missense_Mutation_p.G334R|FRMD1_uc011egs.1_Missense_Mutation_p.G311R|FRMD1_uc011egt.1_Missense_Mutation_p.G475R|FRMD1_uc003qwn.3_Missense_Mutation_p.G472R NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 540 cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGAGCCTCTCCGAACAGGTCC 0.672000 UNCX 340260 broad.mit.edu 37 7 1275553 1275553 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:1275553C>T uc011jvw.1 + 3 536 c.536C>T c.(535-537)CCG>CTG p.P179L NM_001080461 NP_001073930 A6NJT0 UNC4_HUMAN UNC homeobox 179 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) AACTCGCACCCGACCACGTGC 0.632000 INTS1 26173 broad.mit.edu 37 7 1518141 1518141 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:1518141C>T uc003skn.2 - 33 4592 c.4491G>A c.(4489-4491)GTG>GTA p.V1497V INTS1_uc003skm.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1497 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCCCCCCTCGCACTGTGGGAG 0.697000 MAD1L1 8379 broad.mit.edu 37 7 1997266 1997266 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:1997266G>C uc003slh.1 - 16 1860 c.1594C>G c.(1594-1596)CAG>GAG p.Q532E MAD1L1_uc003sle.1_Missense_Mutation_p.Q261E|MAD1L1_uc003slf.1_Missense_Mutation_p.Q532E|MAD1L1_uc003slg.1_Missense_Mutation_p.Q532E|MAD1L1_uc010ksh.1_Missense_Mutation_p.Q532E|MAD1L1_uc003sli.1_Missense_Mutation_p.Q440E|MAD1L1_uc010ksi.1_Missense_Mutation_p.Q485E|MAD1L1_uc010ksj.2_Missense_Mutation_p.Q532E NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 532 Necessary for interaction with NEK2.|Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCCCTCACCTGCAGAGCTCGC 0.637000 SDK1 221935 broad.mit.edu 37 7 4002384 4002384 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:4002384C>T uc003smx.2 + 9 1469 c.1330C>T c.(1330-1332)CGC>TGC p.R444C NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 444 Ig-like C2-type 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGAGGCCTGCGCATCCAGAA 0.597000 SP8 221833 broad.mit.edu 37 7 20825187 20825187 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:20825187C>T uc003suy.2 - 3 436 c.195G>A c.(193-195)TCG>TCA p.S65S SP8_uc003suz.2_Silent_p.S83S NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 65 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 ccgccgAGGACGAGCCGCCGT 0.517000 HOXA4 3201 broad.mit.edu 37 7 27169037 27169037 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:27169037C>T uc003sym.3 - 2 817 c.770G>A c.(769-771)CGC>CAC p.R257H HOXA3_uc003syk.2_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 257 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CTTGACCTGGCGCTCAGACAA 0.572000 EVX1 2128 broad.mit.edu 37 7 27285699 27285699 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:27285699C>A uc003szd.1 + 3 1365 c.879C>A c.(877-879)GCC>GCA p.A293A EVX1_uc011jzn.1_Silent_p.A111A|EVX1_uc010kuy.1_3'UTR NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 293 Ala-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CATCCGCCGCCTCCGCCGCCG 0.761000 EEPD1 80820 broad.mit.edu 37 7 36194777 36194777 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:36194777C>T uc003tfa.2 + 2 1484 c.844C>T c.(844-846)CGA>TGA p.R282* NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 282 DNA repair DNA binding 0 CCCCGGGGTGCGAGAGGTGGT 0.592000 AMPH 273 broad.mit.edu 37 7 38502690 38502690 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:38502690G>A uc003tgu.2 - 10 842 c.773C>T c.(772-774)GCA>GTA p.A258V AMPH_uc003tgv.2_Missense_Mutation_p.A258V|AMPH_uc003tgt.2_Missense_Mutation_p.A11V NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 258 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TGGTGTCTTTGCAATGCGGAG 0.547000 TNS3 64759 broad.mit.edu 37 7 47463773 47463773 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:47463773C>A uc003tnv.2 - 10 766 c.399G>T c.(397-399)CAG>CAT p.Q133H TNS3_uc003tnw.2_Missense_Mutation_p.Q133H|TNS3_uc010kyo.1_Missense_Mutation_p.Q133H NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 133 Phosphatase tensin-type. focal adhesion protein binding ovary(4) 4 TGTCAAGGGCCTGGTCGGCGC 0.488000 UPP1 7378 broad.mit.edu 37 7 48147888 48147888 + Silent SNP C C T rs2230763 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:48147888C>T uc003toj.2 + 10 1396 c.867C>T c.(865-867)AGC>AGT p.S289S UPP1_uc003tok.2_Silent_p.S289S|UPP1_uc003tol.2_Silent_p.S289S|UPP1_uc011kch.1_Silent_p.S82S|UPP1_uc003ton.2_Silent_p.S152S|UPP1_uc003too.2_Silent_p.S152S NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 289 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 ATGTGCTCAGCGAGTACCAGC 0.602000 LANCL2 55915 broad.mit.edu 37 7 55479744 55479744 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:55479744G>A uc003tqp.2 + 6 1548 c.970G>A c.(970-972)GCC>ACC p.A324T NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 324 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) GTGCCACGGCGCCCCGGGGGT 0.562000 GBAS 2631 broad.mit.edu 37 7 56062600 56062600 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:56062600C>T uc003tre.1 + 8 639 c.631C>T c.(631-633)CGC>TGC p.R211C GBAS_uc003trf.1_Missense_Mutation_p.R172C NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 211 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCGTGCAATCCGCTTCAGACA 0.458000 POR 5447 broad.mit.edu 37 7 75608843 75608843 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:75608843C>T uc003udy.2 + 4 394 c.312C>T c.(310-312)GAC>GAT p.D104D POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 101 Flavodoxin-like. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) TGTCCAAGGACGCCCACCGCT 0.622000 MAGI2 9863 broad.mit.edu 37 7 77789517 77789517 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:77789517G>A uc003ugx.2 - 16 2924 c.2670C>T c.(2668-2670)TAC>TAT p.Y890Y MAGI2_uc003ugy.2_Silent_p.Y876Y|MAGI2_uc010ldx.1_Silent_p.Y483Y NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 890 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGTAGGTTGCGTAGTCACTGC 0.577000 CACNA2D1 781 broad.mit.edu 37 7 81599268 81599268 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:81599268G>A uc003uhr.1 - 28 2493 c.2237C>T c.(2236-2238)ACA>ATA p.T746I CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 758 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTCCTCATATGTCTCTGGGTT 0.373000 KIAA1324L 222223 broad.mit.edu 37 7 86522242 86522242 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:86522242G>A uc011kha.1 - 20 3045 c.2860C>T c.(2860-2862)CAA>TAA p.Q954* KIAA1324L_uc003uif.1_Nonsense_Mutation_p.Q714*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.Q840*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.Q787* NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 954 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) ACTTACTTTTGATTCTTTTTC 0.428000 PEX1 5189 broad.mit.edu 37 7 92118635 92118635 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:92118635C>T uc003uly.2 - 23 3835 c.3739G>A c.(3739-3741)GAA>AAA p.E1247K PEX1_uc011khr.1_Missense_Mutation_p.E1039K|PEX1_uc010ley.2_Missense_Mutation_p.E1190K|PEX1_uc011khs.1_Missense_Mutation_p.E925K NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1247 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAGTCATCTTCACTAATGGAT 0.388000 C7orf64 84060 broad.mit.edu 37 7 92164141 92164141 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:92164141C>T uc003ulz.2 + 4 915 c.874C>T c.(874-876)CGT>TGT p.R292C C7orf64_uc003uma.2_Missense_Mutation_p.R292C NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 292 nucleotide binding ovary(2) 2 AGAAGATGATCGTAAACTTGG 0.428000 STAG3 10734 broad.mit.edu 37 7 99779803 99779803 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:99779803G>A uc003utx.1 + 3 362 c.207G>A c.(205-207)CCG>CCA p.P69P STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P69P NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 69 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AACGACCACCGAAAACAACAC 0.358000 AGFG2 3268 broad.mit.edu 37 7 100161926 100161926 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:100161926G>T uc003uvf.2 + 11 1522 c.1386G>T c.(1384-1386)ATG>ATT p.M462I AGFG2_uc010lgy.2_Nonstop_Mutation_p.*255L NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 462 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 ACCCCTTCATGGTGAGTGTGC 0.622000 OREG0018204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ACHE 43 broad.mit.edu 37 7 100491560 100491560 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:100491560A>G uc003uxd.2 - 1 450 c.294T>C c.(292-294)AGT>AGC p.S98S ACHE_uc003uxe.2_Silent_p.S98S|ACHE_uc003uxf.2_Silent_p.S98S|ACHE_uc003uxg.2_Silent_p.S98S|ACHE_uc003uxh.2_Silent_p.S98S|ACHE_uc003uxi.2_Silent_p.S98S|ACHE_uc003uxj.1_Silent_p.S217S NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 98 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GGTAGCAGACACTCTGGAAGG 0.597000 FBXL13 222235 broad.mit.edu 37 7 102566738 102566738 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:102566738C>T uc003vaq.2 - 10 1288 c.861G>A c.(859-861)ACG>ACA p.T287T FBXL13_uc010liq.1_Silent_p.T102T|FBXL13_uc010lir.1_Silent_p.T287T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.T287T|LRRC17_uc003vat.2_Intron|LRRC17_uc003vau.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 287 LRR 3. 0 GGAGTCGCATCGTCCTGTTGG 0.463000 LAMB4 22798 broad.mit.edu 37 7 107706348 107706348 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:107706348A>G uc010ljo.1 - 21 2779 c.2695T>C c.(2695-2697)TAT>CAT p.Y899H LAMB4_uc003vey.2_Missense_Mutation_p.Y899H|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 899 Laminin EGF-like 8. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GGATTTCCATAGTAACCATCA 0.418000 KCND2 3751 broad.mit.edu 37 7 119914694 119914694 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:119914694C>T uc003vjj.1 + 1 973 c.8C>T c.(7-9)GCG>GTG p.A3V NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 3 Interaction with KCNIP2.|Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) ATCATGGCGGCGGGGGTGGCA 0.607000 ASB15 142685 broad.mit.edu 37 7 123267185 123267185 + Missense_Mutation SNP C C T rs138215101 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:123267185C>T uc003vku.1 + 9 1011 c.719C>T c.(718-720)GCG>GTG p.A240V ASB15_uc003vkv.1_Missense_Mutation_p.A240V|ASB15_uc003vkw.1_Missense_Mutation_p.A240V NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 240 ANK 4. intracellular signal transduction skin(2)|lung(1) 3 CTTGCTTTGGCGGATGATGGG 0.488000 FAM71F1 84691 broad.mit.edu 37 7 128370003 128370003 + Missense_Mutation SNP C C T rs140953386 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:128370003C>T uc003vno.1 + 6 954 c.901C>T c.(901-903)CGT>TGT p.R301C FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 301 skin(1) 1 CTGTGACCTACGTTGGAGGGC 0.547000 FLNC 2318 broad.mit.edu 37 7 128470903 128470903 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:128470903T>C uc003vnz.3 + 1 421 c.212T>C c.(211-213)ATC>ACC p.I71T FLNC_uc003voa.3_Missense_Mutation_p.I71T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 71 CH 1.|Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTCCGGCTCATCGCGCTGCTC 0.637000 PLXNA4 91584 broad.mit.edu 37 7 132192848 132192848 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:132192848C>T uc003vra.3 - 2 834 c.605G>A c.(604-606)CGG>CAG p.R202Q PLXNA4_uc003vrc.2_Missense_Mutation_p.R202Q|PLXNA4_uc003vrb.2_Missense_Mutation_p.R202Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 202 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 GGTCAGTTTCCGGCTGGAGAT 0.532000 DGKI 9162 broad.mit.edu 37 7 137293790 137293790 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:137293790A>G uc003vtt.2 - 10 1090 c.1089T>C c.(1087-1089)CCT>CCC p.P363P DGKI_uc003vtu.2_Silent_p.P63P NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 363 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TTATCACAAAAGGACGACCTT 0.438000 TBXAS1 6916 broad.mit.edu 37 7 139719830 139719830 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:139719830G>A uc011kqv.1 + 14 1838 c.1674G>A c.(1672-1674)CCG>CCA p.P558P TBXAS1_uc003vvh.2_Silent_p.P512P|TBXAS1_uc010lne.2_Silent_p.P444P|TBXAS1_uc003vvi.2_Silent_p.P512P|TBXAS1_uc003vvj.2_Missense_Mutation_p.R458H|TBXAS1_uc011kqw.1_Silent_p.P492P NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 511 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) TTTAGGTACCGCTGCAGCTAG 0.318000 MGAM 8972 broad.mit.edu 37 7 141747660 141747660 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:141747660T>C uc003vwy.2 + 22 2628 c.2574T>C c.(2572-2574)AAT>AAC p.N858N NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 858 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTGGGATAATGGGGAAACGA 0.463000 TRPV5 56302 broad.mit.edu 37 7 142622641 142622641 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:142622641G>A uc003wby.1 - 8 1369 c.1105C>T c.(1105-1107)CAG>TAG p.Q369* TRPV5_uc003wbz.2_Nonsense_Mutation_p.Q369* NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 369 Extracellular (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) AGTTTTTGCTGGAGGATGGTG 0.517000 CUL1 8454 broad.mit.edu 37 7 148485743 148485743 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:148485743T>C uc010lpg.2 + 14 2100 c.1574T>C c.(1573-1575)TTG>TCG p.L525S CUL1_uc003wey.2_Missense_Mutation_p.L525S|CUL1_uc003wez.2_Missense_Mutation_p.L415S|CUL1_uc003wfa.2_Missense_Mutation_p.L186S NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 525 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAAAAGCACTTGACAAACTCA 0.428000 CUL1 8454 broad.mit.edu 37 7 148495753 148495753 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:148495753G>A uc010lpg.2 + 20 2646 c.2120G>A c.(2119-2121)CGC>CAC p.R707H CUL1_uc003wey.2_Missense_Mutation_p.R707H|CUL1_uc003wez.2_Missense_Mutation_p.R597H|CUL1_uc003wfa.2_Missense_Mutation_p.R368H NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 707 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAGGAAGACCGCAAACTACTG 0.498000 ZNF282 8427 broad.mit.edu 37 7 148921307 148921307 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:148921307C>T uc003wfm.2 + 8 1689 c.1584C>T c.(1582-1584)GGC>GGT p.G528G ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.2_Missense_Mutation_p.A205V NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 528 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) AGAGCTTCGGCGTGCGCAAGA 0.647000 RBM33 155435 broad.mit.edu 37 7 155493520 155493520 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:155493520A>T uc010lqk.1 + 6 989 c.621A>T c.(619-621)GAA>GAT p.E207D RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 207 Glu-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) aatcagatgaagaagaagaag 0.299000 ZNF596 169270 broad.mit.edu 37 8 195449 195449 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:195449G>T uc003wot.2 + 6 890 c.602G>T c.(601-603)GGG>GTG p.G201V ZNF596_uc003wou.2_Missense_Mutation_p.G100V|ZNF596_uc003wov.2_Missense_Mutation_p.G201V|ZNF596_uc003wow.2_Missense_Mutation_p.G201V NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 201 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) CGTGTGTGTGGGAAAACCTTT 0.413000 MCPH1 79648 broad.mit.edu 37 8 6299603 6299603 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:6299603A>G uc003wqi.2 + 7 664 c.596A>G c.(595-597)CAG>CGG p.Q199R MCPH1_uc003wqh.2_Missense_Mutation_p.Q199R|MCPH1_uc011kwl.1_Missense_Mutation_p.Q151R NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 199 microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CAAATGATTCAGCAGTCTCAT 0.373000 XKR6 286046 broad.mit.edu 37 8 11058241 11058241 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:11058241C>G uc003wtk.1 - 1 635 c.608G>C c.(607-609)GGC>GCC p.G203A NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 203 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CATGGGGGGGCCCCGGCTGGT 0.766000 FAM167A 83648 broad.mit.edu 37 8 11301796 11301796 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:11301796C>T uc010lry.1 - 2 745 c.125G>A c.(124-126)CGC>CAC p.R42H FAM167A_uc003wtw.2_Missense_Mutation_p.R42H NM_053279 NP_444509 Q96KS9 F167A_HUMAN hypothetical protein LOC83648 42 0 GGAGGGCCTGCGGGTCTCCAG 0.682000 PCM1 5108 broad.mit.edu 37 8 17824624 17824624 + Silent SNP G G A rs34135535 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:17824624G>A uc003wyi.3 + 21 3779 c.3357G>A c.(3355-3357)CAG>CAA p.Q1119Q PCM1_uc011kyh.1_Silent_p.Q1119Q|PCM1_uc003wyj.3_Silent_p.Q1120Q NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1119 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TTCCAACACAGCCTGTAAATC 0.393000 T RET|JAK2 papillary thyroid|CML|MPD EPB49 2039 broad.mit.edu 37 8 21938939 21938939 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:21938939C>T uc011kyt.1 + 15 1412 c.1183C>T c.(1183-1185)CGG>TGG p.R395W EPB49_uc010ltl.2_Missense_Mutation_p.R373W|EPB49_uc010ltn.2_Missense_Mutation_p.R348W|EPB49_uc011kyu.1_Missense_Mutation_p.R395W|EPB49_uc011kyv.1_Missense_Mutation_p.R395W|EPB49_uc010ltq.2_Missense_Mutation_p.R373W NM_001114136 NP_001107608 Q08495 DEMA_HUMAN erythrocyte membrane protein band 4.9 isoform 1 395 HP. actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1) 1 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) TCTGTGGAAGCGGAATGAGCT 0.597000 BMP1 649 broad.mit.edu 37 8 22054887 22054887 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:22054887C>T uc003xbg.2 + 15 2305 c.2061C>T c.(2059-2061)TCC>TCT p.S687S BMP1_uc003xba.2_Silent_p.S687S|BMP1_uc003xbb.2_Silent_p.S687S|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.S436S|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.S436S|BMP1_uc011kzc.1_Silent_p.S436S|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 687 CUB 3. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGTTCAAGTCCGACAACACCG 0.567000 NEFM 4741 broad.mit.edu 37 8 24771385 24771385 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:24771385G>A uc003xed.3 + 1 112 c.79G>A c.(79-81)GTC>ATC p.V27I NEFM_uc011lac.1_Missense_Mutation_p.V27I|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 27 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CTTCAGCCGCGTCAGCGGCTC 0.692000 STMN4 81551 broad.mit.edu 37 8 27097502 27097502 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:27097502G>A uc003xfk.2 - 5 610 c.496C>T c.(496-498)CGG>TGG p.R166W STMN4_uc003xfj.2_Missense_Mutation_p.R193W|STMN4_uc011lai.1_Missense_Mutation_p.R193W|STMN4_uc011laj.1_Missense_Mutation_p.R157W|STMN4_uc011lak.1_Missense_Mutation_p.R193W|STMN4_uc010luo.2_Missense_Mutation_p.R166W Q9H169 STMN4_HUMAN RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3; Short=RB3; 166 Potential. intracellular signal transduction large_intestine(1)|pancreas(1) 2 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) TCTTGCAGCCGTTCCAACATG 0.532000 CHRNA2 1135 broad.mit.edu 37 8 27320682 27320682 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:27320682T>C uc010lur.2 - 6 1887 c.1278A>G c.(1276-1278)GCA>GCG p.A426A CHRNA2_uc011lal.1_Silent_p.A411A|CHRNA2_uc010lus.2_Silent_p.A228A NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 426 Cytoplasmic. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) CCACATGACCTGCACATGCCC 0.647000 KIF13B 23303 broad.mit.edu 37 8 28967542 28967542 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:28967542C>T uc003xhh.3 - 33 4035 c.3976G>A c.(3976-3978)GCC>ACC p.A1326T uc003xhi.1_5'Flank NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1326 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TCAACATTGGCTGCCATTCTT 0.428000 GTF2E2 2961 broad.mit.edu 37 8 30511088 30511088 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:30511088C>A uc003xig.2 - 2 281 c.28G>T c.(28-30)GAG>TAG p.E10* NM_002095 NP_002086 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, 10 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TTGAACAGCTCCCTTTCTCTC 0.378000 PURG 29942 broad.mit.edu 37 8 30889510 30889510 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:30889510C>T uc003xin.2 - 1 808 c.789G>A c.(787-789)GAG>GAA p.E263E WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.E263E NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 263 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) AAGAAGTCCCCTCTGGGAGTT 0.453000 NRG1 3084 broad.mit.edu 37 8 32613965 32613965 + Missense_Mutation SNP G G A rs145033301 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:32613965G>A uc003xiv.2 + 9 1365 c.848G>A c.(847-849)CGG>CAG p.R283Q NRG1_uc011lbf.1_Missense_Mutation_p.R280Q|NRG1_uc010lvo.2_Missense_Mutation_p.R280Q|NRG1_uc003xiu.2_Missense_Mutation_p.R288Q|NRG1_uc003xiw.2_Missense_Mutation_p.R280Q|NRG1_uc003xit.2_Missense_Mutation_p.R283Q|NRG1_uc010lvr.2_Missense_Mutation_p.R25Q|NRG1_uc010lvs.2_Missense_Mutation_p.R25Q|NRG1_uc010lvp.2_Missense_Mutation_p.R237Q|NRG1_uc010lvq.2_Missense_Mutation_p.R220Q|NRG1_uc011lbg.1_Missense_Mutation_p.R129Q|NRG1_uc011lbh.1_Missense_Mutation_p.R126Q|NRG1_uc003xja.2_Missense_Mutation_p.R94Q NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 283 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGAGCCTTCGGTCTGAACGA 0.453000 UNC5D 137970 broad.mit.edu 37 8 35425752 35425752 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:35425752C>T uc003xjr.1 + 3 787 c.459C>T c.(457-459)CGC>CGT p.R153R UNC5D_uc003xjs.1_Silent_p.R148R NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 153 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCTCTGTGCGCATAGCCTGTA 0.522000 DDHD2 23259 broad.mit.edu 37 8 38111155 38111155 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38111155G>A uc003xlb.2 + 16 2350 c.1973G>A c.(1972-1974)CGC>CAC p.R658H DDHD2_uc003xlc.2_Missense_Mutation_p.R658H|DDHD2_uc003xld.2_Missense_Mutation_p.R277H NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 658 DDHD. lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GGAGGCCAACGCATTGACTAT 0.388000 PPAPDC1B 84513 broad.mit.edu 37 8 38123659 38123659 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38123659C>A uc003xlf.3 - 6 655 c.634G>T c.(634-636)GAT>TAT p.D212Y PPAPDC1B_uc003xle.3_Missense_Mutation_p.D171Y|PPAPDC1B_uc003xlg.3_Nonsense_Mutation_p.G212* NM_001102559 NP_001096029 Q8NEB5 PPC1B_HUMAN phosphatidic acid phosphatase type 2 domain 212 Helical; (Potential). phospholipid dephosphorylation cytoplasm|integral to membrane|plasma membrane phosphatidate phosphatase activity 0 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188) CTTTGCTTACCTTGCCAGTGA 0.323000 HTRA4 203100 broad.mit.edu 37 8 38835654 38835654 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38835654T>C uc003xmj.2 + 4 1069 c.954T>C c.(952-954)GAT>GAC p.D318D NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 318 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TCCAGATTGATGCCACAATTA 0.299000 TM2D2 83877 broad.mit.edu 37 8 38853837 38853837 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38853837T>G uc003xmk.2 - 1 205 c.122A>C c.(121-123)GAG>GCG p.E41A ADAM9_uc011lcf.1_5'Flank|ADAM9_uc003xmr.2_5'Flank|ADAM9_uc011lcg.1_5'Flank|ADAM9_uc010lwr.2_5'Flank|TM2D2_uc003xml.2_5'UTR|TM2D2_uc003xmm.2_Intron|TM2D2_uc003xmn.2_Intron|ADAM9_uc003xmo.1_5'Flank|ADAM9_uc003xmp.2_5'Flank NM_078473 NP_510882 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 isoform a 41 integral to membrane 0 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GAGCTCAGGCTCAGCGGTCGC 0.622000 ANK1 286 broad.mit.edu 37 8 41551521 41551521 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:41551521G>A uc003xok.2 - 29 3511 c.3427C>T c.(3427-3429)CGC>TGC p.R1143C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R459C|ANK1_uc003xoi.2_Missense_Mutation_p.R1143C|ANK1_uc003xoj.2_Missense_Mutation_p.R1143C|ANK1_uc003xol.2_Missense_Mutation_p.R1143C|ANK1_uc003xom.2_Missense_Mutation_p.R1184C NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1143 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCAATGGGGCGGTGGAACTTC 0.657000 ANK1 286 broad.mit.edu 37 8 41583411 41583411 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:41583411G>A uc003xok.2 - 6 564 c.480C>T c.(478-480)GTC>GTT p.V160V NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.V160V|ANK1_uc003xoj.2_Silent_p.V160V|ANK1_uc003xol.2_Silent_p.V160V|ANK1_uc003xom.2_Silent_p.V193V NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 160 ANK 4.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGAGGTGCGCGACGACGTTCT 0.667000 PXDNL 137902 broad.mit.edu 37 8 52321634 52321634 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:52321634G>A uc003xqu.3 - 17 2651 c.2550C>T c.(2548-2550)GCC>GCT p.A850A PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 850 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCGGGGGTCGGCGTGCCGGG 0.697000 PXDNL 137902 broad.mit.edu 37 8 52325815 52325815 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:52325815A>G uc003xqu.3 - 15 1900 c.1799T>C c.(1798-1800)ATA>ACA p.I600T NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 600 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTACCCTGTATAGCTTTGAA 0.343000 NPBWR1 2831 broad.mit.edu 37 8 53853444 53853444 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:53853444C>T uc011ldu.1 + 1 977 c.977C>T c.(976-978)GCG>GTG p.A326V NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 326 Cytoplasmic (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) ACTTGCCGCGCGGCAGCCTGA 0.692000 MOS 4342 broad.mit.edu 37 8 57025712 57025712 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:57025712G>A uc011leb.1 - 1 830 c.830C>T c.(829-831)GCG>GTG p.A277V NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 277 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) CGAATACGGCGCCTGCTTGGT 0.637000 CHD7 55636 broad.mit.edu 37 8 61769043 61769043 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:61769043A>C uc003xue.2 + 34 7681 c.7204A>C c.(7204-7206)AGG>CGG p.R2402R NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2402 Potential.|Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCAGCGGAGGAGGAGGAGGAG 0.507000 PRDM14 63978 broad.mit.edu 37 8 70982108 70982108 + Translation_Start_Site SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:70982108C>T uc003xym.2 - 2 190 c.-12G>A c.(-14--10)GCGTG>GCATG NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CGGGACCGCACGCTCGGCGGC 0.726000 EYA1 2138 broad.mit.edu 37 8 72211325 72211325 + Silent SNP C C T rs146648560 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:72211325C>T uc003xys.3 - 8 1070 c.783G>A c.(781-783)CCG>CCA p.P261P EYA1_uc003xyr.3_Silent_p.P256P|EYA1_uc003xyt.3_Silent_p.P228P|EYA1_uc010lzf.2_Silent_p.P188P|EYA1_uc003xyu.2_Silent_p.P261P|EYA1_uc011lfe.1_Silent_p.P255P|EYA1_uc003xyv.2_Silent_p.P139P NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 261 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGCCAGATGGCGGTTCTTGAA 0.448000 MSC 9242 broad.mit.edu 37 8 72756093 72756093 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:72756093C>T uc003xyx.1 - 1 639 c.321G>A c.(319-321)TCG>TCA p.S107S uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 107 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGTTCCGCTGCGACTGCTTGC 0.726000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNB2 9312 broad.mit.edu 37 8 73480280 73480280 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:73480280G>A uc003xzb.2 + 2 899 c.311G>A c.(310-312)CGG>CAG p.R104Q NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 104 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AATTTCTACCGGACCGGGAAA 0.463000 KCNB2 9312 broad.mit.edu 37 8 73848408 73848408 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:73848408C>T uc003xzb.2 + 3 1406 c.818C>T c.(817-819)GCC>GTC p.A273V NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 273 Helical; Name=Segment S3; (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GATTTGCTGGCCATCTTGCCG 0.458000 ZFHX4 79776 broad.mit.edu 37 8 77766976 77766976 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:77766976C>T uc003yav.2 + 10 8071 c.7684C>T c.(7684-7686)CGC>TGC p.R2562C ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2562 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCGAGATAAACGCTTGAGAAC 0.423000 HNSCC(33;0.089) FABP9 646480 broad.mit.edu 37 8 82371419 82371419 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:82371419G>A uc011lfo.1 - 2 227 c.227C>T c.(226-228)GCA>GTA p.A76V NM_001080526 NP_001073995 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 76 lipid binding|transporter activity 0 Epithelial(68;0.186) CCGGTTGTCTGCTGTAGTTTC 0.383000 SLC7A13 157724 broad.mit.edu 37 8 87242434 87242434 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:87242434T>C uc003ydq.1 - 1 171 c.73A>G c.(73-75)AAT>GAT p.N25D SLC7A13_uc003ydr.1_Missense_Mutation_p.N25D NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 25 Helical; Name=1; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 CCAATGATATTAATAAGCAAA 0.423000 OTUD6B 51633 broad.mit.edu 37 8 92083383 92083383 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:92083383A>G uc003yeu.3 + 2 289 c.190A>G c.(190-192)AAG>GAG p.K64E uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 34 ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) TCAGGGCATGAAGAATGCTGT 0.423000 SLC25A32 81034 broad.mit.edu 37 8 104414250 104414250 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:104414250A>G uc003yll.2 - 5 888 c.585T>C c.(583-585)CAT>CAC p.H195H SLC25A32_uc011lhr.1_Silent_p.H63H NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 195 Helical; Name=4; (Potential).|Solcar 2. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) GAAGGGCACCATGCGATGTTC 0.348000 DPYS 1807 broad.mit.edu 37 8 105456608 105456608 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:105456608G>A uc003yly.3 - 4 790 c.661C>T c.(661-663)CGC>TGC p.R221C NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 221 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCCTCTGGGCGGCACAGCTCG 0.542000 OXR1 55074 broad.mit.edu 37 8 107695429 107695429 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:107695429T>C uc011lht.1 + 4 408 c.309T>C c.(307-309)GTT>GTC p.V103V OXR1_uc003ymf.2_Silent_p.V102V|OXR1_uc011lhu.1_Silent_p.V95V|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Silent_p.V35V|OXR1_uc003ymi.1_Silent_p.V14V NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 103 LysM. cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TTAAACAGGTTGAATCAAGGG 0.294000 ZHX2 22882 broad.mit.edu 37 8 123965245 123965245 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:123965245G>A uc003ypk.1 + 3 2062 c.1495G>A c.(1495-1497)GTC>ATC p.V499I NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 499 Homeobox 2. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AAGGGGCATCGTCCACATCAC 0.587000 FAM91A1 157769 broad.mit.edu 37 8 124812010 124812010 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:124812010A>G uc003yqv.2 + 18 1757 c.1696_splice c.e18-2 p.S566_splice FAM91A1_uc011lik.1_Splice_Site_p.S566_splice|FAM91A1_uc011lil.1_Splice_Site_p.S324_splice NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TCTTTTCAATAGAGTTATGAT 0.343000 FER1L6 654463 broad.mit.edu 37 8 125015462 125015462 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:125015462T>C uc003yqw.2 + 13 1781 c.1575T>C c.(1573-1575)GCT>GCC p.A525A uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 525 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGAAGTCAGCTGAATCAGCTG 0.527000 KCNQ3 3786 broad.mit.edu 37 8 133196585 133196585 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:133196585G>A uc003ytj.2 - 3 732 c.507C>T c.(505-507)GCC>GCT p.A169A KCNQ3_uc010mdt.2_Silent_p.A169A NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 169 Helical; Name=Segment S2; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAGCAAACTCGGCTCCAAAGA 0.512000 WISP1 8840 broad.mit.edu 37 8 134225170 134225170 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:134225170C>T uc003yub.2 + 2 209 c.133C>T c.(133-135)CGC>TGC p.R45C WISP1_uc003yuc.2_Missense_Mutation_p.R45C|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.R45C|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 45 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CACCTCCTCACGCCCCCAATT 0.647000 WISP1 8840 broad.mit.edu 37 8 134239807 134239807 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:134239807G>A uc003yub.2 + 5 1034 c.958G>A c.(958-960)GTG>ATG p.V320M WISP1_uc003yuc.2_Missense_Mutation_p.V233M|WISP1_uc010meb.2_Missense_Mutation_p.V148M|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Missense_Mutation_p.V75M|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 320 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GACTATCGACGTGTCCTTCCA 0.512000 COL22A1 169044 broad.mit.edu 37 8 139833454 139833454 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:139833454G>A uc003yvd.2 - 7 1617 c.1170C>T c.(1168-1170)ATC>ATT p.I390I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 390 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCGTTCCTCGATGGGTAGTG 0.577000 HNSCC(7;0.00092) KCNK9 51305 broad.mit.edu 37 8 140714992 140714992 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:140714992C>T uc003yvf.1 - 1 308 c.244G>A c.(244-246)GGC>AGC p.G82S KCNK9_uc003yvg.1_Missense_Mutation_p.G82S NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 82 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TAGAAGGAGCCGGCGAATTTC 0.662000 BAI1 575 broad.mit.edu 37 8 143570413 143570413 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:143570413G>A uc003ywm.2 + 14 2653 c.2470G>A c.(2470-2472)GTG>ATG p.V824M NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 824 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGAAGCATCCGTGTTTGTGGT 0.672000 SCRIB 23513 broad.mit.edu 37 8 144887368 144887368 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:144887368C>T uc003yzp.1 - 19 2591 c.2584G>A c.(2584-2586)GTG>ATG p.V862M SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.V862M NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 862 PDZ 2.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGCAGGCCACGTGGCGCTGA 0.731000 EPPK1 83481 broad.mit.edu 37 8 144946750 144946750 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:144946750C>T uc003zaa.1 - 1 685 c.672G>A c.(670-672)TCG>TCA p.S224S NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 224 Plectin 5. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGCTAGCCCCGAGCCGGGGG 0.662000 PLEC 5339 broad.mit.edu 37 8 144990725 144990725 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:144990725C>T uc003zaf.1 - 32 13845 c.13675G>A c.(13675-13677)GCA>ACA p.A4559T PLEC_uc003zab.1_Missense_Mutation_p.A4422T|PLEC_uc003zac.1_Missense_Mutation_p.A4426T|PLEC_uc003zad.2_Missense_Mutation_p.A4422T|PLEC_uc003zae.1_Missense_Mutation_p.A4390T|PLEC_uc003zag.1_Missense_Mutation_p.A4400T|PLEC_uc003zah.2_Missense_Mutation_p.A4408T|PLEC_uc003zaj.2_Missense_Mutation_p.A4449T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4559 Plectin 32.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCTTCTGTGCGGTGCGGGCG 0.672000 PLEC 5339 broad.mit.edu 37 8 144991258 144991258 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:144991258C>T uc003zaf.1 - 32 13312 c.13142G>A c.(13141-13143)CGC>CAC p.R4381H PLEC_uc003zab.1_Missense_Mutation_p.R4244H|PLEC_uc003zac.1_Missense_Mutation_p.R4248H|PLEC_uc003zad.2_Missense_Mutation_p.R4244H|PLEC_uc003zae.1_Missense_Mutation_p.R4212H|PLEC_uc003zag.1_Missense_Mutation_p.R4222H|PLEC_uc003zah.2_Missense_Mutation_p.R4230H|PLEC_uc003zaj.2_Missense_Mutation_p.R4271H NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4381 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGAACGGGAGCGGAAACCACC 0.667000 PLEC 5339 broad.mit.edu 37 8 145003355 145003355 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145003355G>T uc003zaf.1 - 25 3757 c.3587C>A c.(3586-3588)GCG>GAG p.A1196E PLEC_uc003zab.1_Missense_Mutation_p.A1059E|PLEC_uc003zac.1_Missense_Mutation_p.A1063E|PLEC_uc003zad.2_Missense_Mutation_p.A1059E|PLEC_uc003zae.1_Missense_Mutation_p.A1027E|PLEC_uc003zag.1_Missense_Mutation_p.A1037E|PLEC_uc003zah.2_Missense_Mutation_p.A1045E|PLEC_uc003zaj.2_Missense_Mutation_p.A1086E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1196 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGTGGGGGCCGCAGGCGATGG 0.682000 PLEC 5339 broad.mit.edu 37 8 145011331 145011331 + Splice_Site SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145011331A>T uc003zaf.1 - 4 923 c.753_splice c.e4+1 p.Q251_splice PLEC_uc003zab.1_Splice_Site_p.Q114_splice|PLEC_uc003zac.1_Splice_Site_p.Q118_splice|PLEC_uc003zad.2_Splice_Site_p.Q114_splice|PLEC_uc003zae.1_Splice_Site_p.Q82_splice|PLEC_uc003zag.1_Splice_Site_p.Q92_splice|PLEC_uc003zah.2_Splice_Site_p.Q100_splice|PLEC_uc003zaj.2_Splice_Site_p.Q141_splice NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGGCAGCCTTACCTGGCGGTG 0.682000 GPAA1 8733 broad.mit.edu 37 8 145139999 145139999 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145139999C>T uc003zax.2 + 9 1328 c.1218C>T c.(1216-1218)CCC>CCT p.P406P NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 406 Cytoplasmic (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TTGAGGAGCCCGGGGGTGCCC 0.597000 CYC1 1537 broad.mit.edu 37 8 145151105 145151105 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145151105G>A uc003zaz.3 + 3 448 c.405G>A c.(403-405)CTG>CTA p.L135L CYC1_uc003zay.2_Silent_p.L76L NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 135 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCGCCACCTGGTGGGCGTGT 0.627000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAF1 84232 broad.mit.edu 37 8 145161313 145161313 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145161313A>C uc003zbc.1 + 5 947 c.446A>C c.(445-447)CAG>CCG p.Q149P SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank|KIAA1875_uc011lky.1_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 149 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGAAACCACAGCTGTGGAAC 0.587000 DGAT1 8694 broad.mit.edu 37 8 145541626 145541626 + Missense_Mutation SNP C C T rs139792712 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145541626C>T uc003zbv.3 - 9 1074 c.806G>A c.(805-807)CGC>CAC p.R269H DGAT1_uc010mfv.2_Intron NM_012079 NP_036211 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 269 Lumenal (Potential). triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GCGGGGAGAGCGGGGAAAGTT 0.617000 KCNV2 169522 broad.mit.edu 37 9 2718877 2718877 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:2718877C>T uc003zho.1 + 1 1352 c.1138C>T c.(1138-1140)CGC>TGC p.R380C NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 380 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) GCGCGTCATGCGCCTCATGCG 0.667000 JAK2 3717 broad.mit.edu 37 9 5064999 5064999 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:5064999C>T uc010mhm.2 + 8 1286 c.1173C>T c.(1171-1173)GCC>GCT p.A391A JAK2_uc003ziw.2_Silent_p.A391A NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 391 actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CACCTCCAGCCGTGCTTGAAA 0.343000 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial KIAA1432 57589 broad.mit.edu 37 9 5765510 5765510 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:5765510C>T uc003zji.2 + 19 2794 c.2701C>T c.(2701-2703)CGA>TGA p.R901* KIAA1432_uc003zjh.2_Nonsense_Mutation_p.R901*|KIAA1432_uc003zjl.3_Nonsense_Mutation_p.R864*|KIAA1432_uc003zjj.1_Nonsense_Mutation_p.R443*|ERMP1_uc011lme.1_RNA NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 980 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) ACACATGATTCGATTTCTTAA 0.458000 MPDZ 8777 broad.mit.edu 37 9 13121774 13121774 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:13121774G>A uc010mia.1 - 37 5252 c.5195C>T c.(5194-5196)CCG>CTG p.P1732L MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Missense_Mutation_p.P266L|MPDZ_uc010mib.2_Missense_Mutation_p.P437L|MPDZ_uc010mhx.2_Missense_Mutation_p.P554L|MPDZ_uc011lmm.1_Missense_Mutation_p.P591L|MPDZ_uc003zkz.3_Missense_Mutation_p.P425L|MPDZ_uc010mhy.2_Missense_Mutation_p.P1732L|MPDZ_uc010mhz.2_Missense_Mutation_p.P1699L|MPDZ_uc011lmn.1_Missense_Mutation_p.P1699L|MPDZ_uc003zlb.3_Missense_Mutation_p.P1732L NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1732 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GCCTTTTCCCGGCTTCTTCTG 0.473000 C9orf93 203238 broad.mit.edu 37 9 15594156 15594156 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:15594156C>A uc003zmd.2 + 6 976 c.661C>A c.(661-663)CAA>AAA p.Q221K C9orf93_uc010mih.1_Missense_Mutation_p.Q221K|C9orf93_uc003zme.2_Missense_Mutation_p.Q128K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q221K|C9orf93_uc003zmc.2_Missense_Mutation_p.Q221K NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 221 Potential.|Glu-rich. 0 GBM - Glioblastoma multiforme(50;4.84e-07) AAGAGAATTACAATTTATAGT 0.323000 CNTLN 54875 broad.mit.edu 37 9 17135197 17135197 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:17135197C>T uc003zmz.2 + 1 160 c.134C>T c.(133-135)GCG>GTG p.A45V CNTLN_uc003zmx.3_Missense_Mutation_p.A45V|CNTLN_uc003zmy.2_Missense_Mutation_p.A45V|CNTLN_uc003zmw.1_Missense_Mutation_p.A45V NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 45 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GCCGGCGCAGCGCGGGAGGTG 0.697000 TLN1 7094 broad.mit.edu 37 9 35711378 35711378 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:35711378C>T uc003zxt.2 - 30 4247 c.3893G>A c.(3892-3894)CGA>CAA p.R1298Q NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1298 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AACTTGGGCTCGGTCCTCCTG 0.512000 ZBTB5 9925 broad.mit.edu 37 9 37440550 37440550 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:37440550A>G uc003zzx.2 - 2 2199 c.1999T>C c.(1999-2001)TGG>CGG p.W667R NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CTGCTCTGCCAGCGCAGGCAG 0.493000 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:70993145A>G uc004agr.2 + 2 521 c.292A>G c.(292-294)ATC>GTC p.I98V NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ACAGAATGGCATCTTGTCGAC 0.478000 SMC5 23137 broad.mit.edu 37 9 72967216 72967216 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:72967216G>A uc004ahr.2 + 25 3392 c.3275G>A c.(3274-3276)CGG>CAG p.R1092Q SMC5_uc011lry.1_Missense_Mutation_p.R237Q NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 1092 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 CAAAGGCGGCGGCGCCGTATT 0.368000 TRPM3 80036 broad.mit.edu 37 9 73233871 73233871 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:73233871C>T uc004aid.2 - 16 2478 c.2234G>A c.(2233-2235)CGC>CAC p.R745H TRPM3_uc004ahu.2_Missense_Mutation_p.R575H|TRPM3_uc004ahv.2_Missense_Mutation_p.R547H|TRPM3_uc004ahw.2_Missense_Mutation_p.R617H|TRPM3_uc004ahx.2_Missense_Mutation_p.R604H|TRPM3_uc004ahy.2_Missense_Mutation_p.R607H|TRPM3_uc004ahz.2_Missense_Mutation_p.R594H|TRPM3_uc004aia.2_Missense_Mutation_p.R592H|TRPM3_uc004aib.2_Missense_Mutation_p.R582H|TRPM3_uc004aic.2_Missense_Mutation_p.R745H NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 770 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GATGAAGTCGCGGTGTTTGGC 0.612000 GCNT1 2650 broad.mit.edu 37 9 79118407 79118407 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:79118407G>A uc010mpf.2 + 3 1451 c.1110G>A c.(1108-1110)CCG>CCA p.P370P GCNT1_uc010mpg.2_Silent_p.P370P|GCNT1_uc010mph.2_Silent_p.P370P|GCNT1_uc004akf.3_Silent_p.P370P|GCNT1_uc010mpi.2_Silent_p.P370P|GCNT1_uc004akh.3_Silent_p.P370P NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 370 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 CTCCCTACCCGCCCTGCGATG 0.517000 PRUNE2 158471 broad.mit.edu 37 9 79318668 79318668 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:79318668T>C uc010mpk.2 - 9 7985 c.7861A>G c.(7861-7863)AGA>GGA p.R2621G PRUNE2_uc004akj.3_Missense_Mutation_p.R74G|PRUNE2_uc010mpl.1_Missense_Mutation_p.R74G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2621 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAAGATGATCTCGTATCGCTT 0.488000 GNA14 9630 broad.mit.edu 37 9 80046280 80046280 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:80046280C>T uc004aku.2 - 4 1073 c.550G>A c.(550-552)GGC>AGC p.G184S NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 184 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TCAATGATGCCGGTGGTGGGC 0.493000 C9orf170 401535 broad.mit.edu 37 9 89771628 89771628 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:89771628C>T uc004apa.1 + 2 396 c.309C>T c.(307-309)AAC>AAT p.N103N NM_001001709 NP_001001709 A2RU37 CI170_HUMAN hypothetical protein LOC401535 103 0 ACCATGAAAACAGCCAAAATA 0.234000 CDK20 23552 broad.mit.edu 37 9 90585538 90585538 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:90585538G>A uc004apr.2 - 5 814 c.508C>T c.(508-510)CGA>TGA p.R170* CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 170 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 TCGGGGGCTCGGTACCACCTG 0.612000 SEMA4D 10507 broad.mit.edu 37 9 92008486 92008486 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:92008486C>T uc004aqo.1 - 9 1071 c.499G>A c.(499-501)GTC>ATC p.V167I SEMA4D_uc011ltm.1_Missense_Mutation_p.V167I|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.V165I NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 167 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CCAACCATGACGGATGTGTAG 0.428000 SYK 6850 broad.mit.edu 37 9 93607755 93607755 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:93607755C>T uc004aqz.2 + 3 662 c.457C>T c.(457-459)CAG>TAG p.Q153* SYK_uc004aqy.2_Nonsense_Mutation_p.Q153*|SYK_uc004ara.2_Nonsense_Mutation_p.Q153*|SYK_uc004arb.2_Nonsense_Mutation_p.Q153*|SYK_uc004arc.2_Nonsense_Mutation_p.Q153*|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 153 cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TCAGAAGCCTCAGCTGGAGAA 0.478000 T ETV6|ITK MDS|peripheral T-cell lymphoma BICD2 23299 broad.mit.edu 37 9 95482663 95482663 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:95482663C>T uc004aso.1 - 4 1038 c.981G>A c.(979-981)CCG>CCA p.P327P BICD2_uc004asp.1_Silent_p.P327P NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 327 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 TGGGGGAGGGCGGTGCGAGGC 0.632000 FGD3 89846 broad.mit.edu 37 9 95765277 95765277 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:95765277G>A uc004asw.2 + 4 1152 c.524G>A c.(523-525)CGG>CAG p.R175Q FGD3_uc004asx.2_Missense_Mutation_p.R175Q|FGD3_uc004asz.2_Missense_Mutation_p.R175Q|FGD3_uc004ata.2_5'UTR NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 175 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 TATGTGAAGCGGCTGCACCTG 0.557000 SUSD3 203328 broad.mit.edu 37 9 95841807 95841807 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:95841807C>T uc004atb.2 + 4 516 c.480C>T c.(478-480)GCC>GCT p.A160A SUSD3_uc004atc.2_Silent_p.A147A NM_145006 NP_659443 Q96L08 SUSD3_HUMAN sushi domain containing 3 160 Cytoplasmic (Potential). integral to membrane breast(2)|skin(2)|ovary(1)|lung(1) 6 CGGTGCAGGCCGCATACCTTG 0.612000 PHF2 5253 broad.mit.edu 37 9 96439875 96439875 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:96439875C>T uc004aub.2 + 22 3355 c.3208C>T c.(3208-3210)CGT>TGT p.R1070C PHF2_uc004auc.2_Intron NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 1070 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCTAGGAAAACGTACGAAAAA 0.537000 OR13C5 138799 broad.mit.edu 37 9 107360981 107360981 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:107360981G>T uc011lvp.1 - 1 714 c.714C>A c.(712-714)TCC>TCA p.S238S NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 AGCAGGTAGAGGAAGGTTTGC 0.413000 ZNF462 58499 broad.mit.edu 37 9 109690810 109690810 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:109690810G>A uc004bcz.2 + 3 4906 c.4617G>A c.(4615-4617)CCG>CCA p.P1539P ZNF462_uc010mto.2_Silent_p.P1387P|ZNF462_uc004bda.2_Silent_p.P1387P NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1539 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AGCGACACCCGTCCATCAAGG 0.542000 ACTL7A 10881 broad.mit.edu 37 9 111625857 111625857 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:111625857C>T uc004bdj.1 + 1 1255 c.1255C>T c.(1255-1257)CGC>TGC p.R419C NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 419 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 GTGGGTCCACCGCTTTGAGTA 0.582000 SNX30 401548 broad.mit.edu 37 9 115600849 115600849 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:115600849G>A uc004bgj.3 + 6 1034 c.886G>A c.(886-888)GAA>AAA p.E296K SNX30_uc004bgi.3_5'UTR NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 296 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 TGAGCTGGCTGAACCCCTGGA 0.512000 ATP6V1G1 9550 broad.mit.edu 37 9 117359933 117359933 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:117359933G>A uc004bjc.2 + 3 392 c.267G>A c.(265-267)CGG>CGA p.R89R NM_004888 NP_004879 O75348 VATG1_HUMAN vacuolar H+ ATPase G1 89 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances 0 CATACTTCCGGCAGAACAGGG 0.502000 ASTN2 23245 broad.mit.edu 37 9 119903693 119903693 + Silent SNP G G A rs115011238 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:119903693G>A uc004bjs.1 - 4 1181 c.1080C>T c.(1078-1080)CGC>CGT p.R360R ASTN2_uc004bjr.1_Silent_p.R360R|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 360 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GCGTGTTAGCGCGGAAACTCT 0.587000 ASTN2 23245 broad.mit.edu 37 9 120176910 120176910 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:120176910C>T uc004bjs.1 - 1 408 c.307G>A c.(307-309)GCG>ACG p.A103T ASTN2_uc004bjr.1_Missense_Mutation_p.A103T|ASTN2_uc004bjt.1_Missense_Mutation_p.A103T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 103 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCCGGGGACGCGGCGGCGGCG 0.552000 TRAF1 7185 broad.mit.edu 37 9 123675736 123675736 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:123675736C>A uc004bku.1 - 5 1147 c.575G>T c.(574-576)GGG>GTG p.G192V TRAF1_uc011lyg.1_Missense_Mutation_p.G70V|TRAF1_uc010mvl.1_Missense_Mutation_p.G192V NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 192 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 ACGCAGCTTCCCCTCCAGCTC 0.612000 GSN 2934 broad.mit.edu 37 9 124064376 124064376 + Missense_Mutation SNP G G A rs148748121 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:124064376G>A uc004blf.1 + 2 341 c.280G>A c.(280-282)GCC>ACC p.A94T GSN_uc004bld.1_Missense_Mutation_p.A43T|GSN_uc010mvq.1_Missense_Mutation_p.A54T|GSN_uc010mvr.1_Missense_Mutation_p.A54T|GSN_uc010mvu.1_Missense_Mutation_p.A43T|GSN_uc010mvt.1_Missense_Mutation_p.A43T|GSN_uc010mvs.1_Missense_Mutation_p.A43T|GSN_uc004ble.1_Missense_Mutation_p.A43T|GSN_uc010mvv.1_Missense_Mutation_p.A43T|GSN_uc011lyh.1_Missense_Mutation_p.A60T|GSN_uc011lyi.1_Missense_Mutation_p.A43T|GSN_uc011lyj.1_Missense_Mutation_p.A67T NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 94 Actin-severing (Potential).|Gelsolin-like 1. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CACGGGCGACGCCTACGTCAT 0.607000 GSN 2934 broad.mit.edu 37 9 124079433 124079433 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:124079433C>A uc004blf.1 + 7 1037 c.976C>A c.(976-978)CTG>ATG p.L326M GSN_uc004bld.1_Missense_Mutation_p.L275M|GSN_uc010mvq.1_Missense_Mutation_p.L286M|GSN_uc010mvr.1_Missense_Mutation_p.L286M|GSN_uc010mvu.1_Missense_Mutation_p.L275M|GSN_uc010mvt.1_Missense_Mutation_p.L275M|GSN_uc010mvs.1_Missense_Mutation_p.L275M|GSN_uc004ble.1_Missense_Mutation_p.L275M|GSN_uc010mvv.1_Missense_Mutation_p.L275M|GSN_uc011lyh.1_Missense_Mutation_p.L292M|GSN_uc011lyi.1_Missense_Mutation_p.L275M|GSN_uc011lyj.1_Missense_Mutation_p.L299M|GSN_uc004blg.1_Missense_Mutation_p.L57M NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 326 Gelsolin-like 3. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CCAGGGGGCCCTGAAGTCAGA 0.572000 GSN 2934 broad.mit.edu 37 9 124091285 124091285 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:124091285C>T uc004blf.1 + 14 2093 c.2032C>T c.(2032-2034)CGT>TGT p.R678C GSN_uc004bld.1_Missense_Mutation_p.R627C|GSN_uc010mvq.1_Missense_Mutation_p.R638C|GSN_uc010mvr.1_Missense_Mutation_p.R638C|GSN_uc010mvu.1_Missense_Mutation_p.R627C|GSN_uc010mvt.1_Missense_Mutation_p.R627C|GSN_uc010mvs.1_Missense_Mutation_p.R627C|GSN_uc004ble.1_Missense_Mutation_p.R627C|GSN_uc010mvv.1_Missense_Mutation_p.R627C|GSN_uc011lyh.1_Missense_Mutation_p.R644C|GSN_uc011lyi.1_Missense_Mutation_p.R627C|GSN_uc011lyj.1_Missense_Mutation_p.R651C|GSN_uc004blg.1_Missense_Mutation_p.R409C NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 678 Actin-binding, Ca-sensitive (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CAAGATTGGACGTTTTGTGGT 0.617000 GARNL3 84253 broad.mit.edu 37 9 130111298 130111298 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:130111298C>T uc011mae.1 + 17 1928 c.1527C>T c.(1525-1527)GGC>GGT p.G509G GARNL3_uc011mad.1_Silent_p.G487G NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 509 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTGATGCTGGCGTCTTGCTAG 0.507000 ST6GALNAC6 30815 broad.mit.edu 37 9 130648926 130648926 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:130648926C>T uc004bso.1 - 7 1073 c.954G>A c.(952-954)TCG>TCA p.S318S ST6GALNAC6_uc004bsn.1_Silent_p.S284S|ST6GALNAC6_uc011man.1_Silent_p.S118S|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R317H|ST6GALNAC6_uc004bsq.1_Silent_p.S284S|ST6GALNAC6_uc004bsr.2_Silent_p.S284S|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 318 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 GCTGGGCCCACGATGAGAAGA 0.612000 GOLGA2 2801 broad.mit.edu 37 9 131020423 131020423 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:131020423G>A uc011maw.1 - 22 2276 c.2263C>T c.(2263-2265)CGT>TGT p.R755C GOLGA2_uc010mxw.2_Missense_Mutation_p.R78C|GOLGA2_uc004buh.2_Missense_Mutation_p.R228C NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 755 Potential. Golgi cisterna membrane protein binding ovary(1) 1 AGCTGCCCACGTAGCCTTGCC 0.622000 GOLGA2 2801 broad.mit.edu 37 9 131029791 131029791 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:131029791C>T uc011maw.1 - 6 439 c.426G>A c.(424-426)GCG>GCA p.A142A GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Silent_p.A43A|GOLGA2_uc004bum.1_Silent_p.A43A NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 142 Potential. Golgi cisterna membrane protein binding ovary(1) 1 TGACACATGTCGCAGACTATA 0.552000 NUP188 23511 broad.mit.edu 37 9 131718660 131718660 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:131718660A>G uc004bws.1 + 4 215 c.193A>G c.(193-195)AAA>GAA p.K65E NUP188_uc004bwq.1_Missense_Mutation_p.K67E NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 65 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GAAAGCTAATAAAGATGTAGC 0.328000 ASS1 445 broad.mit.edu 37 9 133355792 133355792 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:133355792G>A uc004bzm.2 + 12 1150 c.794G>A c.(793-795)CGT>CAT p.R265H ASS1_uc004bzn.2_Missense_Mutation_p.R265H|ASS1_uc010mza.2_Missense_Mutation_p.R341H|ASS1_uc004bzo.2_Missense_Mutation_p.R246H|ASS1_uc010mzb.2_Missense_Mutation_p.R303H|ASS1_uc004bzp.2_Missense_Mutation_p.R265H|ASS1_uc010mzc.2_Missense_Mutation_p.R265H NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 265 R -> H (in CTLN1).|R -> C (in CTLN1; severe clinical course). arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GGCGTGGGCCGTATTGACATC 0.612000 BAT2L1 84726 broad.mit.edu 37 9 134340381 134340381 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:134340381C>T uc004can.3 + 11 1691 c.1636C>T c.(1636-1638)CGG>TGG p.R546W BAT2L1_uc010mzj.1_Missense_Mutation_p.R129W NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 546 Potential. protein binding 0 AGGTGAGGCCCGGAAGCAGGC 0.622000 BAT2L1 84726 broad.mit.edu 37 9 134350806 134350806 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:134350806G>A uc004can.3 + 15 3345 c.3290G>A c.(3289-3291)CGC>CAC p.R1097H BAT2L1_uc010mzj.1_Missense_Mutation_p.R680H|BAT2L1_uc004cao.3_Missense_Mutation_p.R455H NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1097 protein binding 0 CTGGGGGCCCGCAGCATCTAC 0.701000 PMPCA 23203 broad.mit.edu 37 9 139317663 139317663 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:139317663G>A uc004chl.2 + 13 1530 c.1525G>A c.(1525-1527)GCC>ACC p.A509T PMPCA_uc010nbl.2_Missense_Mutation_p.A409T|PMPCA_uc011mdz.1_Missense_Mutation_p.A378T|PMPCA_uc004chn.1_3'UTR NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 509 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) CATCCAGACCGCCCTGTCGAG 0.652000 INPP5E 56623 broad.mit.edu 37 9 139324254 139324254 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:139324254G>A uc004cho.2 - 10 2193 c.1808C>T c.(1807-1809)CCG>CTG p.P603L INPP5E_uc010nbm.2_Missense_Mutation_p.P602L NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 603 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) AGCTGCCAACGGAATGCTGTG 0.567000 ABCA2 20 broad.mit.edu 37 9 139905490 139905490 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:139905490C>T uc011mem.1 - 38 6136 c.5988G>A c.(5986-5988)GCG>GCA p.A1996A ABCA2_uc011mel.1_Silent_p.A1997A|ABCA2_uc004ckl.1_Silent_p.A1927A|ABCA2_uc004ckm.1_Silent_p.A2027A NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1996 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGCCCTCAACCGCCATGGCCA 0.537000 DPP7 29952 broad.mit.edu 37 9 140007557 140007557 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:140007557G>A uc004clh.2 - 7 748 c.718C>T c.(718-720)CGC>TGC p.R240C NM_013379 NP_037511 Q9UHL4 DPP2_HUMAN dipeptidyl peptidase 7 preproprotein 240 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) AACTCCCAGCGGACCGTGTCG 0.642000 NDOR1 27158 broad.mit.edu 37 9 140106987 140106987 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:140106987C>T uc004clw.2 + 3 358 c.247C>T c.(247-249)CCC>TCC p.P83S NDOR1_uc004clx.2_Missense_Mutation_p.P83S|NDOR1_uc011mes.1_Missense_Mutation_p.P83S|NDOR1_uc004cly.2_Missense_Mutation_p.P83S NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 83 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GAAGAACCTGCCCTCCACTGC 0.592000 EHMT1 79813 broad.mit.edu 37 9 140638440 140638440 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:140638440C>T uc011mfc.1 + 6 1105 c.1068C>T c.(1066-1068)CTC>CTT p.L356L EHMT1_uc004coa.2_Silent_p.L356L|EHMT1_uc004cob.1_Silent_p.L325L NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 356 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CAGAGGAGCTCGAGGAGGACG 0.647000 IL3RA 3563 broad.mit.edu 37 X 1471219 1471219 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:1471219C>T uc004cps.2 + 6 785 c.436C>T c.(436-438)CGT>TGT p.R146C IL3RA_uc011mhd.1_Missense_Mutation_p.R68C NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 146 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CCGCAGCAGGCGTCAACAGTA 0.597000 P2RY8 286530 broad.mit.edu 37 X 1585026 1585026 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:1585026G>A uc004cpz.2 - 2 674 c.426C>T c.(424-426)GCC>GCT p.A142A NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 142 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGCACACGCGGCCACCGCGT 0.687000 T CRLF2 B-ALL|Downs associated ALL DHRSX 207063 broad.mit.edu 37 X 2343243 2343243 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:2343243A>G uc004cqf.3 - 2 261 c.212T>C c.(211-213)ATC>ACC p.I71T NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 71 NAD or NADP (By similarity). binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ATCACCTATGATAACATGCAT 0.328000 MXRA5 25878 broad.mit.edu 37 X 3235851 3235851 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:3235851G>A uc004crg.3 - 6 6028 c.5871C>T c.(5869-5871)TAC>TAT p.Y1957Y NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1957 Ig-like C2-type 4. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGACGTCCTGGTAGTGGGAGG 0.582000 WWC3 55841 broad.mit.edu 37 X 10078029 10078029 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:10078029C>T uc004csx.3 + 9 1141 c.943C>T c.(943-945)CGG>TGG p.R315W WWC3_uc010nds.2_Translation_Start_Site|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 315 Potential. ovary(4) 4 GCGGCGTGCACGGGCCACCTC 0.677000 GRPR 2925 broad.mit.edu 37 X 16170715 16170715 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:16170715G>A uc004cxj.2 + 3 1755 c.1102G>A c.(1102-1104)GTG>ATG p.V368M NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 368 Cytoplasmic (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) CAACCCCTCCGTGGCCACCTT 0.537000 MAP3K15 389840 broad.mit.edu 37 X 19389099 19389099 + Silent SNP G G A rs143117337 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:19389099G>A uc004czk.1 - 25 3440 c.1803C>T c.(1801-1803)GCC>GCT p.A601A MAP3K15_uc004czj.1_Silent_p.A561A|MAP3K15_uc004czi.1_Silent_p.A60A NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1126 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) TGGTGACCGCGGCCTGCACCG 0.443000 SH3KBP1 30011 broad.mit.edu 37 X 19725094 19725094 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:19725094G>A uc004czm.2 - 4 611 c.295C>T c.(295-297)CGG>TGG p.R99W SH3KBP1_uc004czl.2_Missense_Mutation_p.R62W NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 99 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 CGGCGCCTCCGTCGCTCGCCT 0.502000 ZFX 7543 broad.mit.edu 37 X 24228818 24228818 + Silent SNP C C T rs143557208 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:24228818C>T uc004dbf.2 + 9 2001 c.1743C>T c.(1741-1743)TGC>TGT p.C581C ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.C620C|ZFX_uc010nfz.2_Silent_p.C237C NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 581 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 GCCAGTACTGCGAATATAGGT 0.428000 PDK3 5165 broad.mit.edu 37 X 24483604 24483604 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:24483604C>T uc004dbg.2 + 1 261 c.32C>T c.(31-33)CCG>CTG p.P11L PDK3_uc004dbh.2_Missense_Mutation_p.P11L NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 11 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CTGAAGCAGCCGGTGCCCAAG 0.682000 IL1RAPL1 11141 broad.mit.edu 37 X 29301173 29301173 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:29301173C>T uc004dby.2 + 3 709 c.201C>T c.(199-201)GCC>GCT p.A67A NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 67 Ig-like C2-type 1.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 ACTCCCTTGCCCAAAGTGCTG 0.413000 FAM47A 158724 broad.mit.edu 37 X 34148467 34148467 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:34148467C>A uc004ddg.2 - 1 1962 c.1929G>T c.(1927-1929)AAG>AAT p.K643N NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 643 ovary(4)|central_nervous_system(1) 5 CTTTCTTAAACTTTTGGTCCT 0.443000 CHST7 56548 broad.mit.edu 37 X 46433917 46433917 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:46433917C>T uc004dgt.2 + 1 726 c.551C>T c.(550-552)ACG>ATG p.T184M NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 184 Lumenal (Potential). chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3) 3 gccccggACACGGCCAATCTT 0.562000 SLC9A7 84679 broad.mit.edu 37 X 46541838 46541838 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:46541838T>C uc004dgu.1 - 2 466 c.458A>G c.(457-459)TAC>TGC p.Y153C SLC9A7_uc004dgv.1_Missense_Mutation_p.Y153C NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 153 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 TTTCAGAGTGTATTCGAAGAA 0.502000 WAS 7454 broad.mit.edu 37 X 48547416 48547416 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:48547416G>A uc004dkm.3 + 10 1356 c.1299G>A c.(1297-1299)GCG>GCA p.A433A NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 433 WH2. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) GTCGGGGAGCGCTTTTGGATC 0.602000 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome SYP 6855 broad.mit.edu 37 X 49048143 49048143 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:49048143C>T uc004dmz.1 - 6 709 c.693G>A c.(691-693)CCG>CCA p.P231P SYP_uc011mmz.1_Silent_p.P113P|SYP_uc004dna.1_Silent_p.P225P NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 231 Cytoplasmic (Potential). regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) CGCGCAGGAACGGGGCGGCCC 0.706000 CACNA1F 778 broad.mit.edu 37 X 49083447 49083447 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:49083447C>T uc004dnb.2 - 9 1323 c.1261G>A c.(1261-1263)GCC>ACC p.A421T CACNA1F_uc010nip.2_Missense_Mutation_p.A421T NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 421 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) TTGTCATCGGCGGAGGGGTCC 0.602000 SHROOM4 57477 broad.mit.edu 37 X 50377325 50377325 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:50377325C>T uc004dpe.2 - 4 1774 c.1748G>A c.(1747-1749)CGG>CAG p.R583Q SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R467Q NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 583 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) CTCACTCTTCCGCCGGTTTTG 0.582000 SHROOM4 57477 broad.mit.edu 37 X 50557009 50557009 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:50557009G>A uc004dpe.2 - 1 36 c.10C>T c.(10-12)CGG>TGG p.R4W SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 4 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GACCCAGGCCGGTTCTCCATC 0.687000 IQSEC2 23096 broad.mit.edu 37 X 53285133 53285133 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:53285133C>G uc004dsd.2 - 3 1049 c.848G>C c.(847-849)GGC>GCC p.G283A IQSEC2_uc004dsc.2_Missense_Mutation_p.G78A NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 273 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 AGCAGGGGGGCCCCCCATGTG 0.687000 HUWE1 10075 broad.mit.edu 37 X 53573484 53573484 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:53573484G>A uc004dsp.2 - 70 11230 c.10828C>T c.(10828-10830)CGG>TGG p.R3610W HUWE1_uc004dsn.2_Missense_Mutation_p.R2418W|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3610 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAGTCCCCCCGGGAGAGCTGC 0.512000 PHF8 23133 broad.mit.edu 37 X 54026320 54026320 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:54026320C>A uc004dsu.2 - 11 1397 c.1324G>T c.(1324-1326)GCC>TCC p.A442S PHF8_uc004dst.2_Missense_Mutation_p.A406S|PHF8_uc004dsv.2_Missense_Mutation_p.A272S|PHF8_uc004dsw.2_Missense_Mutation_p.A406S|PHF8_uc004dsx.2_Missense_Mutation_p.A170S|PHF8_uc004dsy.2_Missense_Mutation_p.A406S NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 442 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 CTTGTCCAGGCTCTAAAGGCC 0.478000 WNK3 65267 broad.mit.edu 37 X 54263784 54263784 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:54263784G>T uc004dtd.1 - 20 4513 c.4074C>A c.(4072-4074)ACC>ACA p.T1358T WNK3_uc004dtc.1_Silent_p.T1405T NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1358 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TTTCTTTACAGGTTTCCTGAA 0.378000 WNK3 65267 broad.mit.edu 37 X 54275765 54275765 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:54275765G>T uc004dtd.1 - 17 3455 c.3016C>A c.(3016-3018)CCA>ACA p.P1006T WNK3_uc004dtc.1_Missense_Mutation_p.P1006T NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1006 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TGGTGACATGGATACACAGGT 0.443000 ZXDB 158586 broad.mit.edu 37 X 57618747 57618747 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:57618747G>A uc004dvd.2 + 1 479 c.266G>A c.(265-267)GGC>GAC p.G89D NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 89 Poly-Gly. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 ggcggcggcggcgacgACTTC 0.552000 HEPH 9843 broad.mit.edu 37 X 65486430 65486430 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:65486430G>A uc011moz.1 + 21 3462 c.3402G>A c.(3400-3402)TGG>TGA p.W1134* HEPH_uc004dwn.2_Nonsense_Mutation_p.W1133*|HEPH_uc004dwo.2_Nonsense_Mutation_p.W864*|HEPH_uc010nkr.2_Nonsense_Mutation_p.W942*|HEPH_uc011mpa.1_Nonsense_Mutation_p.W1134* NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1131 Helical; (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GAGTGGTTTGGTACCAACATC 0.488000 ZMYM3 9203 broad.mit.edu 37 X 70469892 70469892 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:70469892C>T uc004dzh.1 - 6 1322 c.1235G>A c.(1234-1236)TGC>TAC p.C412Y BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.C412Y|ZMYM3_uc004dzj.1_Missense_Mutation_p.C412Y|ZMYM3_uc011mpu.1_Missense_Mutation_p.C143Y|ZMYM3_uc004dzk.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzl.3_Missense_Mutation_p.C412Y|ZMYM3_uc004dzm.3_Missense_Mutation_p.C412Y NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 412 MYM-type 2. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) AGTCTTCTGGCATATGCTGCA 0.642000 NONO 4841 broad.mit.edu 37 X 70516763 70516763 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:70516763G>A uc004dzo.2 + 8 1519 c.809G>A c.(808-810)CGC>CAC p.R270H BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R270H|NONO_uc004dzp.2_Missense_Mutation_p.R270H|NONO_uc011mpv.1_Missense_Mutation_p.R181H|NONO_uc004dzq.2_Missense_Mutation_p.R139H NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 270 Potential.|DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) TATGCCATGCGCTGGAAGGCA 0.522000 T TFE3 papillary renal cancer PHKA1 5255 broad.mit.edu 37 X 71829541 71829541 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:71829541G>C uc004eax.3 - 23 2840 c.2539C>G c.(2539-2541)CTT>GTT p.L847V PHKA1_uc004eay.3_Missense_Mutation_p.L847V|PHKA1_uc011mqi.1_Missense_Mutation_p.L788V NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 847 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) TGGGAGAGAAGGTCTGTGCAG 0.448000 NAP1L2 4674 broad.mit.edu 37 X 72434188 72434188 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:72434188G>A uc004ebi.2 - 1 497 c.141C>T c.(139-141)TGC>TGT p.C47C NAP1L2_uc011mqj.1_Intron NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 47 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CTTCTTCACCGCACTTCCCAT 0.567000 KIAA2022 340533 broad.mit.edu 37 X 73961406 73961406 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:73961406T>C uc004eby.2 - 3 3603 c.2986A>G c.(2986-2988)ATG>GTG p.M996V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 996 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 AGTGGGGCCATTGAATCAAAG 0.443000 MAGEE1 57692 broad.mit.edu 37 X 75649451 75649451 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:75649451G>A uc004ecm.1 + 1 1335 c.1128G>A c.(1126-1128)TCG>TCA p.S376S NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 376 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CTGATGGATCGGACACCTCCG 0.682000 ATRX 546 broad.mit.edu 37 X 76939711 76939711 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:76939711A>G uc004ecp.3 - 9 1269 c.1037T>C c.(1036-1038)CTA>CCA p.L346P ATRX_uc004ecq.3_Missense_Mutation_p.L308P|ATRX_uc004eco.3_Missense_Mutation_p.L131P|ATRX_uc004ecr.2_Missense_Mutation_p.L307P|ATRX_uc010nlx.1_Missense_Mutation_p.L346P|ATRX_uc010nly.1_Missense_Mutation_p.L291P NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 346 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GGGCACAATTAGTGCGGAATA 0.363000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome MAGT1 84061 broad.mit.edu 37 X 77150868 77150868 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:77150868T>C uc004fof.2 - 1 198 c.136A>G c.(136-138)ATG>GTG p.M46V MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.M46V NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 14 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 GCCACCACCATGGTCACAGAG 0.567000 SATL1 340562 broad.mit.edu 37 X 84362915 84362915 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:84362915G>A uc011mqx.1 - 1 1060 c.1060C>T c.(1060-1062)CGA>TGA p.R354* SATL1_uc004een.2_Nonsense_Mutation_p.R354* NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 167 Gln-rich. N-acetyltransferase activity breast(2) 2 CTTGGGGCTCGTTGCGGTGGA 0.537000 TGIF2LX 90316 broad.mit.edu 37 X 89177108 89177108 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:89177108G>A uc004efe.2 + 2 73 c.24G>A c.(22-24)CCG>CCA p.P8P NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 8 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CGGACGGCCCGGCTGAGACCC 0.527000 PCDH19 57526 broad.mit.edu 37 X 99657766 99657766 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:99657766C>T uc010nmz.2 - 3 4048 c.2372G>A c.(2371-2373)CGG>CAG p.R791Q PCDH19_uc004efw.3_Missense_Mutation_p.R744Q|PCDH19_uc004efx.3_Missense_Mutation_p.R744Q NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 791 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CTCCACATCCCGGGGTACCAG 0.483000 NXF5 55998 broad.mit.edu 37 X 101095825 101095825 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:101095825C>A uc011mrk.1 - 9 883 c.523G>T c.(523-525)GAT>TAT p.D175Y NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 175 LRR 1. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GAAAGGCCATCCAGCTGGTAC 0.473000 TCEAL5 340543 broad.mit.edu 37 X 102529304 102529304 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:102529304T>G uc004ejz.1 - 3 483 c.188A>C c.(187-189)GAG>GCG p.E63A NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 63 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 CAGTTGtccctcatcacctgg 0.269000 PLP1 5354 broad.mit.edu 37 X 103041611 103041611 + Missense_Mutation SNP C C T rs132630295 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:103041611C>T uc010nov.2 + 4 689 c.409C>T c.(409-411)CGG>TGG p.R137W RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.R137W|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.R82W|PLP1_uc010now.1_Missense_Mutation_p.R141W|PLP1_uc010nox.2_Missense_Mutation_p.R91W NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 137 Cytoplasmic (Probable). R -> W (in SPG2).|Missing (in HLD1). cell death|synaptic transmission integral to membrane p.R137W(1) ovary(1) 1 TTCTTTGGAGCGGGTGTGTCA 0.552000 NRK 203447 broad.mit.edu 37 X 105181436 105181436 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:105181436A>G uc004emd.2 + 22 3964 c.3661A>G c.(3661-3663)AAT>GAT p.N1221D NRK_uc010npc.1_Missense_Mutation_p.N889D NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1221 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 AACAGGAGTCAATTTGCTGTT 0.348000 HNSCC(51;0.14) RNF128 79589 broad.mit.edu 37 X 105970349 105970349 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:105970349G>A uc004eml.2 + 1 456 c.206G>A c.(205-207)GGC>GAC p.G69D RNF128_uc004emk.2_Intron NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 69 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding p.G69D(1) ovary(1)|central_nervous_system(1) 2 AGCGAGGAGGGCGTGTACGGC 0.682000 RNF128 79589 broad.mit.edu 37 X 105970426 105970426 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:105970426G>A uc004eml.2 + 1 533 c.283G>A c.(283-285)GCC>ACC p.A95T RNF128_uc004emk.2_Intron NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 95 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GGCGCTTAACGCCTGTAACCC 0.677000 ATG4A 115201 broad.mit.edu 37 X 107372043 107372043 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:107372043C>T uc004enr.2 + 3 277 c.154C>T c.(154-156)CGT>TGT p.R52C ATG4A_uc004ent.2_Missense_Mutation_p.R52C|ATG4A_uc004ens.2_5'UTR|ATG4A_uc011msl.1_5'UTR|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Intron NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 52 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 TATAAGTGCTCGTCTATGGTT 0.323000 IRS4 8471 broad.mit.edu 37 X 107977352 107977352 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:107977352T>C uc004eoc.2 - 1 2256 c.2223A>G c.(2221-2223)AGA>AGG p.R741R NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 741 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCATGTACCCTCTTGAATCTT 0.468000 GUCY2F 2986 broad.mit.edu 37 X 108691390 108691390 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:108691390G>A uc004eod.3 - 6 1753 c.1477C>T c.(1477-1479)CGT>TGT p.R493C GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 493 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TTATTTATACGACGCCTAAAA 0.398000 AMMECR1 9949 broad.mit.edu 37 X 109507781 109507781 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:109507781C>A uc004eoo.2 - 2 601 c.520G>T c.(520-522)GGA>TGA p.G174* AMMECR1_uc004eop.2_Intron|AMMECR1_uc004eoq.2_Nonsense_Mutation_p.G51* NM_015365 NP_056180 Q9Y4X0 AMER1_HUMAN AMMECR1 protein isoform 1 174 AMMECR1. 0 CCTATGCATCCACGTAATCTT 0.343000 TRPC5 7224 broad.mit.edu 37 X 111195319 111195319 + Silent SNP G G A rs139867130 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:111195319G>A uc004epl.1 - 2 1249 c.330C>T c.(328-330)GGC>GGT p.G110G TRPC5_uc004epm.1_Silent_p.G110G NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 110 ANK 3.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCTCCACAGCGCCCACCACTT 0.547000 NKRF 55922 broad.mit.edu 37 X 118724034 118724034 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:118724034C>T uc004erq.2 - 2 2007 c.1354G>A c.(1354-1356)GTG>ATG p.V452M NKRF_uc004err.2_Missense_Mutation_p.V452M NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 452 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 AGCGTGCACACGGGATTTGAA 0.423000 GRIA3 2892 broad.mit.edu 37 X 122537368 122537368 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:122537368C>T uc004etq.3 + 10 1584 c.1291C>T c.(1291-1293)CTG>TTG p.L431L GRIA3_uc004etr.3_Silent_p.L431L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.L415L NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 431 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GACTACCATTCTGGTAAGTGT 0.428000 ODZ1 10178 broad.mit.edu 37 X 123514832 123514832 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:123514832G>T uc004euj.2 - 31 7796 c.7732C>A c.(7732-7734)CTT>ATT p.L2578I ODZ1_uc011muj.1_Missense_Mutation_p.L2584I|ODZ1_uc010nqy.2_Missense_Mutation_p.L2585I NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2578 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGAGACCCAAGCTTAATGAAG 0.498000 IGSF1 3547 broad.mit.edu 37 X 130417039 130417039 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:130417039T>C uc004ewd.2 - 6 1105 c.867A>G c.(865-867)CAA>CAG p.Q289Q IGSF1_uc004ewe.3_Silent_p.Q278Q|IGSF1_uc004ewf.2_Silent_p.Q269Q NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 289 Ig-like C2-type 3.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GTCCAGTATCTTGGATCTTCA 0.398000 GPR112 139378 broad.mit.edu 37 X 135430010 135430010 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:135430010G>T uc004ezu.1 + 6 4436 c.4145G>T c.(4144-4146)AGC>ATC p.S1382I GPR112_uc010nsb.1_Missense_Mutation_p.S1177I|GPR112_uc010nsc.1_Missense_Mutation_p.S1149I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1382 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GAAAAGGAAAGCACGAGTGCC 0.453000 GPR101 83550 broad.mit.edu 37 X 136113044 136113044 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:136113044G>A uc011mwh.1 - 1 790 c.790C>T c.(790-792)CGC>TGC p.R264C NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 264 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TCATGCTGGCGGCGAAACTCA 0.562000 SLITRK2 84631 broad.mit.edu 37 X 144906227 144906227 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:144906227C>T uc004fcd.2 + 5 3274 c.2284C>T c.(2284-2286)CGA>TGA p.R762* SLITRK2_uc010nsp.2_Nonsense_Mutation_p.R762*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.R762*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.R762*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.R762*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.R762*|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 762 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TATTGCTGAGCGAGTCAAGGA 0.493000 FMR1 2332 broad.mit.edu 37 X 147009866 147009866 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:147009866G>A uc010nst.2 + 4 414 c.225G>A c.(223-225)GAG>GAA p.E75E FMR1_uc011mwz.1_Silent_p.E75E|FMR1_uc004fcj.2_Silent_p.E75E|FMR1_uc004fck.3_Silent_p.E75E|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 75 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAAAAGAGCCTTGCTGTT 0.313000 Fragile_X_syndrome GPR50 9248 broad.mit.edu 37 X 150345310 150345310 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:150345310C>T uc010ntg.1 + 1 252 c.117C>T c.(115-117)ATC>ATT p.I39I uc004fes.1_RNA|GPR50_uc011myc.1_Silent_p.I39I NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 39 Helical; Name=1; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTATCACCATCGTTGTAGACC 0.512000 GPR50 9248 broad.mit.edu 37 X 150349306 150349306 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:150349306C>T uc010ntg.1 + 2 1386 c.1251C>T c.(1249-1251)CAC>CAT p.H417H uc004fes.1_5'Flank NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 417 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTGGTCACCTCAAGCCTG 0.572000 PLXNB3 5365 broad.mit.edu 37 X 153033730 153033730 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:153033730C>T uc004fii.2 + 4 1287 c.1113C>T c.(1111-1113)GGC>GGT p.G371G PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 371 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACCCCTGTGGCGACGAGCACA 0.687000 PLXNB3 5365 broad.mit.edu 37 X 153040511 153040511 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:153040511C>G uc004fii.2 + 24 4282 c.4108C>G c.(4108-4110)CTC>GTC p.L1370V PLXNB3_uc010nuk.2_Missense_Mutation_p.L1393V|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1009V|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1370 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCGCCAGGGCCTCACGCAGCT 0.697000 HCFC1 3054 broad.mit.edu 37 X 153217121 153217121 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:153217121C>T uc004fjp.2 - 21 5826 c.5298G>A c.(5296-5298)CCG>CCA p.P1766P NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1766 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACCACAACCGGCTGGGGGG 0.617000 FLNA 2316 broad.mit.edu 37 X 153593586 153593586 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:153593586C>T uc004fkk.2 - 11 1858 c.1609G>A c.(1609-1611)GTG>ATG p.V537M FLNA_uc010nuu.1_Missense_Mutation_p.V537M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 537 Filamin 3. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCCATACACGCCATCCCCC 0.637000 FLNA 2316 broad.mit.edu 37 X 153599571 153599571 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:153599571C>T uc004fkk.2 - 2 292 c.43G>A c.(43-45)GCG>ACG p.A15T FLNA_uc010nuu.1_Missense_Mutation_p.A15T NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 15 Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGGAGCCGCGCCTGCTGCG 0.721000 FUNDC2 65991 broad.mit.edu 37 X 154280049 154280049 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:154280049T>C uc004fmw.2 + 4 615 c.465T>C c.(463-465)CCT>CCC p.P155P NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 155 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCAGATACCTACTGAGGTCA 0.463000 BRCC3 79184 broad.mit.edu 37 X 154348417 154348417 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:154348417C>G uc004fna.2 + 11 1036 c.943C>G c.(943-945)CTA>GTA p.L315V BRCC3_uc004fnb.2_Missense_Mutation_p.L290V NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 315 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTTCTTCTCTAGAATAAAT 0.403000 CHRD 8646 broad.mit.edu 37 3 184105718 184105718 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:184105718delG uc003fov.2 + 20 2698 c.2452_splice c.e20-1 p.G818_splice CHRD_uc003fow.2_Splice_Site_p.G448_splice|CHRD_uc003fox.2_Splice_Site_p.G818_splice|CHRD_uc003foy.2_Splice_Site_p.G448_splice|CHRD_uc010hyc.2_Splice_Site_p.G408_splice|CHRD_uc011brr.1_Splice_Site_p.G360_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATCCCTACAGGGGGGCACTG 0.607 DLG1 1739 broad.mit.edu 37 3 196857544 196857545 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:196857544_196857545insA uc003fxo.3 - 12 1310 c.1120_splice c.e12-1 p.V374_splice DLG1_uc011bub.1_Splice_Site_p.V258_splice|DLG1_uc011buc.1_Splice_Site_p.V258_splice|DLG1_uc011bud.1_Splice_Site_p.V57_splice|DLG1_uc003fxn.3_Splice_Site_p.V374_splice|DLG1_uc011bue.1_Splice_Site_p.V341_splice|DLG1_uc010ial.2_Splice_Site_p.V374_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTATTCACCTAAAAAAAGTCC 0.332 PREPL 9581 broad.mit.edu 37 2 44550553 44550553 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:44550552_44550552TA>T uc002ruf.3 - 11 2706 c.1747_splice c.e11-1 p.A583_splice PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA. 583 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GAAAGGTGCCTAAAAAAAAGG 0.333 PPP3R1 5534 broad.mit.edu 37 2 68413787 68413787 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:68413786_68413786TA>T uc002sei.1 - 5 673 c.281_splice c.e5-1 p.F94_splice NM_000945 NP_000936 P63098 CANB1_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA. 94 EF-hand 3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding large_intestine(1) 1 Pimecrolimus(DB00337) GGAAAGCAACTAAAAAAAAGG 0.328 KCNH7 90134 broad.mit.edu 37 2 163361170 163361170 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:163361169_163361169TA>T uc002uch.2 - 6 1143 c.914_splice c.e6-1 p.G305_splice KCNH7_uc002uci.3_Splice_Site_p.G298_splice NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 305 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAAAAGGCCCTAAAAAAATGG 0.373 DLG1 1739 broad.mit.edu 37 3 196857545 196857546 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:196857544_196857545T>TA uc010ial.3 - 12 1379 c.1120_splice c.e12-1 p.V374_splice DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 374 PDZ 2. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTATTCACCTAAAAAAAGTCC 0.332 APBB2 323 broad.mit.edu 37 4 41016418 41016418 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:41016417_41016417TG>T uc003gvn.3 - 6 650 c.20_splice c.e6-1 p.A7_splice APBB2_uc003gvl.3_Splice_Site_p.A7_splice|APBB2_uc003gvm.3_Splice_Site_p.A7_splice|APBB2_uc011byt.1_Splice_Site NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 7 cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTGAGTCAGCTGGGGAAAAAA 0.413 CD109 135228 broad.mit.edu 37 6 74492481 74492481 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:74492480_74492480TA>T uc003php.3 + 18 2536 c.2105_splice c.e18+2 p.G702_splice CD109_uc003phq.3_Splice_Site_p.G702_splice|CD109_uc010kba.3_Splice_Site_p.G625_splice NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 702 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CAACATGGGGTAAAAATTTAT 0.348 PDE10A 10846 broad.mit.edu 37 6 165844963 165844964 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:165844962_165844963T>TA uc003qun.3 - 9 909 c.664_splice c.e9-1 p.V222_splice PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 222 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGTTGCAACCTAAAAAAAACAA 0.327 COPB1 1315 broad.mit.edu 37 11 14510133 14510133 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:14510132_14510132TA>T uc001mlh.2 - 6 853 c.607_splice c.e6-1 p.D203_splice COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice NM_001144061 NP_057535 P53618 COPB_HUMAN Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA. 203 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 AGCTCGATCCTAAAAAAAATA 0.294 MED19 219541 broad.mit.edu 37 11 57472193 57472193 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:57472192_57472192TG>T uc001nla.1 - 3 593 c.571_splice c.e3+1 p.E191_splice MED19_uc001nlb.3_Splice_Site_p.G191_splice NM_153450 NP_703151 A0JLT2 MED19_HUMAN Homo sapiens mediator complex subunit 19 (MED19), mRNA. 191 Lys-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex cervix(1)|large_intestine(1)|lung(1)|ovary(2) 5 GCTTCTTACCTGGGGGGACAG 0.418 MYCBP2 23077 broad.mit.edu 37 13 77743852 77743852 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:77743851_77743851TA>T uc021rks.1 - 39 6062 c.5795_splice c.e39-1 p.A1932_splice MYCBP2_uc010aev.3_Splice_Site_p.A1298_splice NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 1894 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGTCATCAGCTAAAAAAAGGC 0.393 KCNH5 27133 broad.mit.edu 37 14 63473193 63473193 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:63473192_63473192TG>T uc001xfx.3 - 3 249 c.198_splice c.e3-1 p.S66_splice KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 66 PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TACATAAAACTGGGGGGGAAA 0.353 LMAN1 3998 broad.mit.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:57013284_57013284CT>C uc002lhz.3 - 8 855 c.823_splice c.e8-1 p.P275_splice NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 275 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CTGGTGTGGGCTTTTTTTTGG 0.294 KLK8 11202 broad.mit.edu 37 19 51503682 51503683 + Splice_Site INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51503681_51503682G>GT uc002puq.1 - 3 551 c.365_splice c.e3+1 p.P122_splice KLK9_uc002puw.1_Splice_Site|KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 77 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TCCACTCACGGTTTTTTACAGT 0.599 CAMTA1 23261 broad.mit.edu 37 1 7724998 7724998 + Frame_Shift_Del DEL G G - rs61742693 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:7724998delG uc001aoi.2 + 9 2598 c.2391delG c.(2389-2391)TCGfs p.S797fs NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 797 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGCTGGTGTCGGGGGACAGCA 0.637 RERE 473 broad.mit.edu 37 1 8418586 8418586 + Frame_Shift_Del DEL G G - rs638744 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:8418586delG uc001ape.2 - 21 4819 c.4009delC c.(4009-4011)CTGfs p.L1337fs RERE_uc001apf.2_Frame_Shift_Del_p.L1337fs|RERE_uc001apd.2_Frame_Shift_Del_p.L783fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1337 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GCTGGGTGCAGGGGGTCCAGC 0.701 ARID1A 8289 broad.mit.edu 37 1 27102120 27102121 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:27102120_27102121delAG uc001bmv.1 + 19 5419_5420 c.5046_5047delAG c.(5044-5049)GCAGAGfs p.A1682fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1681fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A1465fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A528fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.A10fs|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1682_1683 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTCTCCTGGCAGAGAGCACATG 0.525 Mis|N|F|S|D clear cell ovarian carcinoma|RCC YTHDF2 51441 broad.mit.edu 37 1 29069277 29069279 + In_Frame_Del DEL TGA TGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:29069277_29069279delTGA uc001brc.2 + 4 992_994 c.495_497delTGA c.(493-498)ATTGAT>ATT p.D166del YTHDF2_uc001brd.2_In_Frame_Del_p.D163del|YTHDF2_uc010ofx.1_In_Frame_Del_p.D116del|YTHDF2_uc001bre.2_In_Frame_Del_p.D116del NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 166 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GAGCCATGATTGATGGACAGTCA 0.468 MAP7D1 55700 broad.mit.edu 37 1 36643530 36643530 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:36643530delC uc001bzz.2 + 9 1652 c.1436delC c.(1435-1437)TCCfs p.S479fs MAP7D1_uc001caa.2_Frame_Shift_Del_p.S447fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.S442fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.S179fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.S25fs NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 479 Pro-rich. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) AGGCCTGCCTCCCCCTGCCCC 0.647 SSX2IP 117178 broad.mit.edu 37 1 85130170 85130170 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:85130170delT uc001dkh.2 - 7 878 c.603delA c.(601-603)AAAfs p.K201fs SSX2IP_uc001dkf.2_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dki.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc010osa.1_Frame_Shift_Del_p.K174fs|SSX2IP_uc001dkj.2_Frame_Shift_Del_p.K201fs|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Frame_Shift_Del_p.K197fs NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 201 Potential. cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATTCACGCTCTTTTCTCTTCA 0.338 PRPF38B 55119 broad.mit.edu 37 1 109242456 109242456 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:109242456delA uc001dvv.3 + 6 1737 c.1455delA c.(1453-1455)TCAfs p.S485fs PRPF38B_uc001dvw.3_Frame_Shift_Del_p.S374fs|PRPF38B_uc010ouz.1_Frame_Shift_Del_p.S288fs NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 485 mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TTGAAAAATCAAAAAAACGGG 0.343 SLC19A2 10560 broad.mit.edu 37 1 169446550 169446552 + In_Frame_Del DEL AAG AAG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:169446550_169446552delAAG uc001gge.3 - 2 852_854 c.648_650delCTT c.(646-651)TTCTTT>TTT p.216_217FF>F SLC19A2_uc001ggf.3_Intron NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 216_217 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) AATGTGGTGAAAGAAGAGGCTCT 0.498 KIAA1614 57710 broad.mit.edu 37 1 180904705 180904705 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:180904705delC uc001gok.2 + 5 1727 c.1660delC c.(1660-1662)CCCfs p.P554fs KIAA1614_uc001gol.1_Frame_Shift_Del_p.P175fs|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 554 ovary(3)|skin(1) 4 GGGGAAGGCGCCCCCCGTCCC 0.751 DENND1B 163486 broad.mit.edu 37 1 197509196 197509197 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:197509196_197509197insT uc010ppe.1 - 19 1690_1691 c.1352_1353insA c.(1351-1353)AATfs p.N451fs DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AATCTTCTTCATTTTCCTACAC 0.312 PLEKHA6 22874 broad.mit.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:204228411delC uc001hau.2 - 8 1299 c.982delG c.(982-984)GTAfs p.V328fs PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 328 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCGGGGGTACCCCCCGGCGC 0.622 LAMB3 3914 broad.mit.edu 37 1 209797293 209797295 + In_Frame_Del DEL ACA ACA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:209797293_209797295delACA uc001hhg.2 - 14 2417_2419 c.2027_2029delTGT c.(2026-2031)TTGTCC>TCC p.L676del LAMB3_uc009xco.2_In_Frame_Del_p.L676del|LAMB3_uc001hhh.2_In_Frame_Del_p.L676del|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 676 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTCGGAAGGGACAACGTCTCCTC 0.507 TP53BP2 7159 broad.mit.edu 37 1 223971921 223971923 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:223971921_223971923delCTT uc010pvb.1 - 17 3549_3551 c.3257_3259delAAG c.(3256-3261)GAAGGA>GGA p.E1086del TP53BP2_uc001hod.2_In_Frame_Del_p.E957del|TP53BP2_uc010puz.1_In_Frame_Del_p.E319del|TP53BP2_uc010pva.1_In_Frame_Del_p.E725del NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 1080 Mediates interaction with APC2.|SH3. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ATGCAGTCTCCTTCTTTCATGGG 0.438 CUBN 8029 broad.mit.edu 37 10 17113854 17113854 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:17113854delT uc001ioo.2 - 18 2470 c.2418delA c.(2416-2418)AAAfs p.K806fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 806 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGAAACTAGCTTTTTCAACAG 0.313 MAPK8 5599 broad.mit.edu 37 10 49613018 49613019 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:49613018_49613019insA uc009xnz.2 + 3 470_471 c.246_247insA c.(244-249)CACAAAfs p.H82fs MAPK8_uc001jgl.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgn.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgp.2_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.2_Frame_Shift_Ins_p.H82fs NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 82_83 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GTGTTAATCACAAAAATGTAAG 0.332 CCDC6 8030 broad.mit.edu 37 10 61665913 61665915 + In_Frame_Del DEL CTC CTC - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:61665913_61665915delCTC uc001jks.3 - 1 904_906 c.268_270delGAG c.(268-270)GAGdel p.E90del NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 90 Potential. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) GGTCGCGGTTCTCCTCCTGCAGT 0.665 TET1 80312 broad.mit.edu 37 10 70446283 70446284 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:70446283_70446284insA uc001jok.3 + 11 5728_5729 c.5223_5224insA c.(5221-5226)CGCAAAfs p.R1741fs NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1741_1742 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CACCCCGCCGCAAAAAAAGAAC 0.490 PTEN 5728 broad.mit.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:89717770delA uc001kfb.2 + 8 1826 c.795delA c.(793-795)CTAfs p.L265fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 265 C2 tensin-type. KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACAAGATGCTAAAAAAGGTTT 0.348 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) HPX 3263 broad.mit.edu 37 11 6461701 6461701 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:6461701delA uc001mdg.2 - 3 271 c.210delT c.(208-210)TTTfs p.F70fs HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Frame_Shift_Del_p.F70fs NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 70 Hemopexin-like 1. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TCCTACCTTTAAAAAACAGCA 0.488 LDHA 3939 broad.mit.edu 37 11 18418442 18418442 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:18418442delC uc001mok.3 + 2 325 c.53delC c.(52-54)ACCfs p.T18fs LDHA_uc010rdc.1_Frame_Shift_Del_p.T18fs|LDHA_uc009yhn.2_Frame_Shift_Del_p.T18fs|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Frame_Shift_Del_p.T18fs|LDHA_uc010rdd.1_Frame_Shift_Del_p.T47fs NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 18 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) GAAGAACAGACCCCCCAGAAT 0.418 UBXN1 51035 broad.mit.edu 37 11 62445075 62445075 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:62445075delG uc001nul.1 - 7 698 c.566delC c.(565-567)CCAfs p.P189fs UBXN1_uc001nuj.2_Frame_Shift_Del_p.P189fs|UBXN1_uc001num.1_Frame_Shift_Del_p.P185fs|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 189 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 TGGTGCCACTGGGGGTGGCTG 0.532 ANKRD13D 338692 broad.mit.edu 37 11 67066574 67066575 + Frame_Shift_Del DEL TG TG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:67066574_67066575delTG uc001okc.1 + 8 1027_1028 c.516_517delTG c.(514-519)ACTGTTfs p.T172fs ANKRD13D_uc001okd.1_Frame_Shift_Del_p.T259fs|ANKRD13D_uc001oke.1_Frame_Shift_Del_p.T172fs|ANKRD13D_uc001okg.1_5'UTR|ANKRD13D_uc001okh.1_5'UTR|ANKRD13D_uc001oki.1_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 172_173 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGATGGAAACTGTTAGCGGCTA 0.584 ATM 472 broad.mit.edu 37 11 108178656 108178656 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:108178656delA uc001pkb.1 + 38 6092 c.5707delA c.(5707-5709)AAAfs p.K1903fs ATM_uc009yxr.1_Frame_Shift_Del_p.K1903fs|ATM_uc001pke.1_Frame_Shift_Del_p.K555fs|ATM_uc001pkg.1_Frame_Shift_Del_p.K260fs|ATM_uc009yxt.1_Intron NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1903 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTGTTTGGATAAAAAATCACA 0.388 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) CACNA1C 775 broad.mit.edu 37 12 2797835 2797835 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:2797835delG uc009zdu.1 + 49 6569 c.6256delG c.(6256-6258)GGGfs p.G2086fs CACNA1C_uc009zdv.1_Frame_Shift_Del_p.G2000fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkc.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.G1992fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.G2009fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.G2044fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.G2011fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.G2051fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.G2023fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.G2020fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.G2038fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.G2031fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.G2003fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.G2022fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.G1810fs|CACNA1C_uc001qkj.1_Frame_Shift_Del_p.G1774fs|CACNA1C_uc001qkk.1_Frame_Shift_Del_p.G1739fs|CACNA1C_uc001qkm.1_Frame_Shift_Del_p.G1799fs|CACNA1C_uc010sea.1_Frame_Shift_Del_p.G694fs|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Frame_Shift_Del_p.G321fs NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2086 Poly-Gly.|Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCCGGTGGCGGGGGCAGCAG 0.706 KIAA0748 9840 broad.mit.edu 37 12 55356642 55356642 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:55356642delG uc001sgn.3 - 9 1150 c.1040delC c.(1039-1041)CCTfs p.P347fs KIAA0748_uc001sgl.3_Frame_Shift_Del_p.P209fs|KIAA0748_uc001sgm.3_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spb.1_Frame_Shift_Del_p.P94fs|KIAA0748_uc010spc.1_Frame_Shift_Del_p.P209fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.P347fs|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 347 ovary(1)|central_nervous_system(1) 2 ACCCTCAGCAGGGGGCACAGG 0.498 EEA1 8411 broad.mit.edu 37 12 93236245 93236245 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:93236245delT uc001tck.2 - 10 1176 c.911delA c.(910-912)AATfs p.N304fs NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 304 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 TCTCACCTGATTTTTTTGTGT 0.284 SBNO1 55206 broad.mit.edu 37 12 123805034 123805034 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:123805034delG uc010tap.1 - 18 2612 c.2612delC c.(2611-2613)CCTfs p.P871fs SBNO1_uc010tao.1_Frame_Shift_Del_p.P870fs|SBNO1_uc010taq.1_Intron NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 871 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CAGGGTATTAGGGGGGAGGTC 0.448 SLC7A1 6541 broad.mit.edu 37 13 30091766 30091766 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:30091766delT uc001uso.2 - 10 1841 c.1454delA c.(1453-1455)AACfs p.N485fs NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 485 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGGCTCCATGTTTTTGGGTGA 0.473 SETDB2 83852 broad.mit.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:50065970delA uc001vcz.2 + 15 3051 c.2145delA c.(2143-2145)AGAfs p.R715fs SETDB2_uc001vda.2_Frame_Shift_Del_p.R703fs NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 715 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) ATAAATGTAGAAAAAAAATAT 0.373 ABCC4 10257 broad.mit.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:95735432delA uc001vmd.3 - 21 2767 c.2648delT c.(2647-2649)TTGfs p.L883fs ABCC4_uc010afk.2_Frame_Shift_Del_p.L836fs NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 883 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGACGTTTCCAAAAAATATCG 0.443 CBLN3 643866 broad.mit.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:24898055delG uc001wpg.3 - 1 677 c.206delC c.(205-207)CCTfs p.P69fs KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 69 C1q. cell junction|extracellular region|synapse central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) CACTCGCCCAGGGGGTGCCTC 0.677 ARHGAP5 394 broad.mit.edu 37 14 32562545 32562545 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:32562545delT uc001wrl.2 + 2 2909 c.2670delT c.(2668-2670)GATfs p.D890fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 890 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GCCAAGCAGATTTTTTTGAAA 0.403 C14orf145 145508 broad.mit.edu 37 14 80963839 80963840 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:80963839_80963840insT uc001xux.2 - 24 3438_3439 c.3267_3268insA c.(3265-3270)AAAGAGfs p.K1089fs C14orf145_uc010asz.1_Intron NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 1089_1090 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CCATATTCCTCTTTTTTGGGTT 0.347 RPS6KA5 9252 broad.mit.edu 37 14 91444703 91444703 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:91444703delA uc001xys.2 - 3 556 c.341delT c.(340-342)TTGfs p.L114fs RPS6KA5_uc010twi.1_Frame_Shift_Del_p.L35fs|RPS6KA5_uc001xyt.2_Frame_Shift_Del_p.L114fs|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 114 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TAATGTTACCAAAAATGGCGA 0.368 TRIP11 9321 broad.mit.edu 37 14 92472698 92472698 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:92472698delT uc001xzy.2 - 11 2410 c.1622delA c.(1621-1623)AAGfs p.K541fs TRIP11_uc010auf.1_Frame_Shift_Del_p.K277fs NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 541 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) ATGAACTCTCTTTTTTTCATC 0.303 T PDGFRB AML MNS1 55329 broad.mit.edu 37 15 56735891 56735893 + In_Frame_Del DEL TCT TCT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:56735891_56735893delTCT uc002adr.2 - 6 1011_1013 c.846_848delAGA c.(844-849)GAAGAT>GAT p.E282del MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 282 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TGCCATCCGATCTTCTTCTCTTT 0.369 SLTM 79811 broad.mit.edu 37 15 59185211 59185211 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:59185211delT uc002afp.2 - 14 1871 c.1783delA c.(1783-1785)AGAfs p.R595fs SLTM_uc002afn.2_Frame_Shift_Del_p.R137fs|SLTM_uc002afo.2_Frame_Shift_Del_p.R577fs|SLTM_uc002afq.2_Frame_Shift_Del_p.R164fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.R164fs NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 595 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TCTTTATCTCTTTTTTTATCT 0.343 RASGRF1 5923 broad.mit.edu 37 15 79291158 79291158 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:79291158delG uc002beq.2 - 19 3179 c.2804delC c.(2803-2805)CCAfs p.P935fs RASGRF1_uc002bep.2_Frame_Shift_Del_p.P919fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.P844fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.P919fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.P330fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.P151fs NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 937 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CCTCTGGTCTGGGGGAAACCC 0.567 SRRM2 23524 broad.mit.edu 37 16 2809032 2809034 + In_Frame_Del DEL AAG AAG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:2809032_2809034delAAG uc002crk.2 + 6 1189_1191 c.640_642delAAG c.(640-642)AAGdel p.K217del SRRM2_uc002crj.1_In_Frame_Del_p.K121del|SRRM2_uc002crl.1_In_Frame_Del_p.K217del|SRRM2_uc010bsu.1_In_Frame_Del_p.K121del NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 217 Sufficient for RNA-binding.|Lys-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GAAAAGCTCAAAGAAGAAGAAGC 0.448 CLDN9 9080 broad.mit.edu 37 16 3063895 3063895 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3063895delG uc010uwo.1 + 1 1439 c.532delG c.(532-534)GGGfs p.G178fs NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 178 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 TATGCTGGGCGGGGGGCTCCT 0.721 ZNF434 54925 broad.mit.edu 37 16 3433514 3433515 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3433514_3433515insT uc002cuz.2 - 6 1597_1598 c.795_796insA c.(793-798)CCATCCfs p.P265fs ZNF434_uc002cux.3_Frame_Shift_Ins_p.P476fs|ZNF434_uc010uwx.1_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.3_Frame_Shift_Ins_p.P188fs NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 265_266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTCTCCTGGGATGGGGTTTTCT 0.485 CLN3 1201 broad.mit.edu 37 16 28495431 28495434 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:28495431_28495434delAAGA uc002dpo.2 - 9 1006_1009 c.683_686delTCTT c.(682-687)TTCTTGfs p.F228fs uc010vct.1_Intron|CLN3_uc002dpl.2_Frame_Shift_Del_p.F150fs|CLN3_uc010vcu.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpn.2_Frame_Shift_Del_p.F129fs|CLN3_uc002dpm.2_Frame_Shift_Del_p.F174fs|CLN3_uc010vcv.1_Frame_Shift_Del_p.F204fs|CLN3_uc010byd.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpp.2_Frame_Shift_Del_p.F228fs|CLN3_uc002dpt.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpq.1_Frame_Shift_Del_p.F180fs|CLN3_uc010bye.1_Frame_Shift_Del_p.F228fs|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Frame_Shift_Del_p.F101fs|CLN3_uc002dpu.1_Frame_Shift_Del_p.F126fs|CLN3_uc002dpw.1_Frame_Shift_Del_p.F75fs|CLN3_uc010vcw.1_Frame_Shift_Del_p.F174fs|CLN3_uc002dqa.2_Frame_Shift_Del_p.F279fs|CLN3_uc010vcx.1_Frame_Shift_Del_p.F128fs|CLN3_uc002dpx.1_Frame_Shift_Del_p.F105fs|CLN3_uc002dpy.1_Frame_Shift_Del_p.F72fs NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 228_229 Helical; (Potential). amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 TGTGAGCAACAAGAAATAGCTAGG 0.564 ASPHD1 253982 broad.mit.edu 37 16 29912627 29912628 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:29912627_29912628insT uc002dut.2 + 1 481_482 c.335_336insT c.(334-336)GCTfs p.A112fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 112 Gly-rich.|Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity 0 GGGAGCCGAGCTGGGGGTGTTC 0.688 SRR 63826 broad.mit.edu 37 17 2224617 2224618 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:2224617_2224618delAA uc002fue.1 + 5 485_486 c.417_418delAA c.(415-420)GCAAAAfs p.A139fs SRR_uc002fui.1_5'UTR NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 139_140 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAAATGTTGCAAAAAGAGTTAC 0.366 KDM6B 23135 broad.mit.edu 37 17 7751995 7751995 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:7751995delC uc002giw.1 + 11 2765 c.2389delC c.(2389-2391)CCCfs p.P797fs KDM6B_uc002gix.2_Frame_Shift_Del_p.P99fs NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 797 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 accacccccacccccCAGCCC 0.343 MPRIP 23164 broad.mit.edu 37 17 17061827 17061827 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:17061827delG uc002gqu.1 + 14 1613 c.1557delG c.(1555-1557)CTGfs p.L519fs MPRIP_uc002gqv.1_Frame_Shift_Del_p.L519fs|MPRIP_uc002gqw.1_Frame_Shift_Del_p.L274fs NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 519 cytoplasm|cytoskeleton actin binding 0 AGGCAGAGCTGGGGGAGCCGG 0.627 NLK 51701 broad.mit.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:26449740delT uc010crj.2 + 2 782 c.570delT c.(568-570)TGTfs p.C190fs NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 190 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGATGTTGTGTTTTTTTAAGC 0.388 BZRAP1 9256 broad.mit.edu 37 17 56400095 56400095 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:56400095delC uc002ivx.3 - 9 2108 c.1237delG c.(1237-1239)GTGfs p.V413fs BZRAP1_uc010dcs.2_Frame_Shift_Del_p.V353fs|BZRAP1_uc010wnt.1_Frame_Shift_Del_p.V413fs NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 413 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCTGTGTCACCCCCAGGAGC 0.647 CARD14 79092 broad.mit.edu 37 17 78176025 78176025 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:78176025delG uc002jxw.1 + 15 2220 c.2025delG c.(2023-2025)TCGfs p.S675fs CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.S675fs|CARD14_uc010wud.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 675 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGCGACCTCGGGGGACTCAT 0.587 RAB31 11031 broad.mit.edu 37 18 9845647 9845648 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:9845647_9845648insA uc002kog.2 + 6 624_625 c.449_450insA c.(448-450)GCAfs p.A150fs NM_006868 NP_006859 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 149 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 GAGACAAGTGCAAAAAATGCTA 0.421 KLHL14 57565 broad.mit.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - rs147661052 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:30349862delG uc002kxm.1 - 2 1081 c.693delC c.(691-693)CCCfs p.P231fs NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 231 BACK. cytosol|endoplasmic reticulum membrane ovary(1) 1 CCGACTCCACGGGGGGCGGCA 0.642 BSG 682 broad.mit.edu 37 19 577814 577814 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:577814delG uc002loz.2 + 2 206 c.108delG c.(106-108)GTGfs p.V36fs BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_5'Flank NM_001728 NP_001719 P35613 BASI_HUMAN basigin isoform 1 precursor 36 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGGTGGGTGGGGGGCAGTG 0.692 DAZAP1 26528 broad.mit.edu 37 19 1432590 1432590 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:1432590delG uc002lsn.2 + 11 1138 c.949delG c.(949-951)GGGfs p.G317fs DAZAP1_uc002lsm.2_Frame_Shift_Del_p.G317fs|DAZAP1_uc002lso.2_Frame_Shift_Del_p.G316fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.G317fs NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 317 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCACTCCCGGGGCAGCACC 0.647 ZNF77 58492 broad.mit.edu 37 19 2933664 2933666 + In_Frame_Del DEL ACT ACT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:2933664_2933666delACT uc002lws.3 - 4 1590_1592 c.1459_1461delAGT c.(1459-1461)AGTdel p.S487del NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GTTTGACCCCACTGTGTGATCTC 0.507 MAP1S 55201 broad.mit.edu 37 19 17838362 17838362 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:17838362delC uc002nhe.1 + 5 2178 c.2169delC c.(2167-2169)GGCfs p.G723fs MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Frame_Shift_Del_p.G697fs NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 723 Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 CGCTGCGTGGCCCCCGGGCGC 0.682 CILP2 148113 broad.mit.edu 37 19 19656228 19656229 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:19656228_19656229insG uc002nmv.3 + 8 2959_2960 c.2874_2875insG c.(2872-2877)GCAGGGfs p.A958fs CILP2_uc002nmw.3_Frame_Shift_Ins_p.A964fs NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 958_959 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CCCACAACGCAGGGGGCAGCCA 0.683 IRGQ 126298 broad.mit.edu 37 19 44096194 44096194 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:44096194delG uc002oww.2 - 2 1974 c.1856delC c.(1855-1857)CCTfs p.P619fs IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 619 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) GGCAGGCTCAGGGGGTGCCAG 0.657 LMTK3 114783 broad.mit.edu 37 19 49001688 49001688 + Frame_Shift_Del DEL C C - rs35275345 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:49001688delC uc002pjk.2 - 12 2725 c.2725delG c.(2725-2727)GCGfs p.A909fs NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CGGGCTGTCGCCCCCTTCTCC 0.662 ZNF17 7565 broad.mit.edu 37 19 57932545 57932545 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:57932545delT uc002qoo.1 + 3 1916 c.1685delT c.(1684-1686)GTTfs p.V562fs ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Frame_Shift_Del_p.V564fs NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 562 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGTGGGAGAGTTTTTAGCCAA 0.403 ZNF549 256051 broad.mit.edu 37 19 58049657 58049657 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:58049657delA uc002qpb.1 + 4 1534 c.1285delA c.(1285-1287)AAAfs p.K429fs ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.K416fs NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 429 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTCATTCACAAAAAAAGACT 0.418 PRKCE 5581 broad.mit.edu 37 2 46386829 46386830 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:46386829_46386830delAA uc002rut.2 + 14 2202_2203 c.2005_2006delAA c.(2005-2007)AAAfs p.K669fs NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 669 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) CCCATTCTTCAAAGAGATTGAC 0.559 PELI1 57162 broad.mit.edu 37 2 64331929 64331931 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:64331929_64331931delCTT uc002scs.3 - 2 4144_4146 c.105_107delAAG c.(103-108)GGAAGG>GGG p.R37del PELI1_uc002sct.3_In_Frame_Del_p.R37del|PELI1_uc002scu.1_RNA NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 37 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 ACTTTTCCTCCTTCCTCTATCGC 0.414 RANBP2 5903 broad.mit.edu 37 2 109389413 109389413 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:109389413delT uc002tem.3 + 23 8329 c.8203delT c.(8203-8205)TTTfs p.F2735fs NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2735 Interaction with SUMO1.|2 X 50 AA approximate repeats.|2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TCCACCTACATTTTTTTGTGG 0.358 SCN9A 6335 broad.mit.edu 37 2 167055185 167055185 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:167055185delT uc010fpl.2 - 27 6272 c.5931delA c.(5929-5931)AAAfs p.K1977fs uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1988 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGAAGCTCTATTTTTTGCTTT 0.328 RBM44 375316 broad.mit.edu 37 2 238727072 238727072 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:238727072delA uc002vxi.3 + 3 1645 c.1513delA c.(1513-1515)AAAfs p.K505fs NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 504 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AATGATGAATAAAAAACGACC 0.383 NXT1 29107 broad.mit.edu 37 20 23334925 23334926 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:23334925_23334926insA uc002wsx.1 + 2 634_635 c.247_248insA c.(247-249)GAAfs p.E83fs NM_013248 NP_037380 Q9UKK6 NXT1_HUMAN NTF2-like export factor 1 83 NTF2. cytoplasm|nuclear pore ovary(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGTTCATGATGAAGCCACACCA 0.480 ITSN1 6453 broad.mit.edu 37 21 35147278 35147278 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:35147278delA uc002yta.1 + 14 1730 c.1462delA c.(1462-1464)AAAfs p.K488fs DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmg.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmi.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gmj.2_Frame_Shift_Del_p.K372fs|ITSN1_uc002ysy.2_Frame_Shift_Del_p.K488fs|ITSN1_uc002ysx.2_Frame_Shift_Del_p.K451fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.K488fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Del_p.K451fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Del_p.K488fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Del_p.K422fs NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 488 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CAAGAATGATAAAAAGCATCA 0.313 SGSM1 129049 broad.mit.edu 37 22 25308665 25308665 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:25308665delC uc003abg.2 + 23 3196 c.3039delC c.(3037-3039)TTCfs p.F1013fs SGSM1_uc003abh.2_Frame_Shift_Del_p.F952fs|SGSM1_uc010guu.1_Frame_Shift_Del_p.F958fs|SGSM1_uc003abj.2_Frame_Shift_Del_p.F897fs|SGSM1_uc003abi.1_Frame_Shift_Del_p.F933fs NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 1013 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 ACCAGAACTTCCCCCACGGAG 0.522 C22orf23 84645 broad.mit.edu 37 22 38340219 38340221 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:38340219_38340221delCTT uc003auj.1 - 7 706_708 c.615_617delAAG c.(613-618)AGAAGG>AGG p.205_206RR>R C22orf23_uc003auk.1_In_Frame_Del_p.205_206RR>R NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN hypothetical protein LOC84645 205_206 0 Melanoma(58;0.045) TTCCTCACTCCTTCTGTGGTCAA 0.552 CSNK1E 1454 broad.mit.edu 37 22 38698968 38698970 + In_Frame_Del DEL GTT GTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:38698968_38698970delGTT uc003avj.2 - 4 493_495 c.232_234delAAC c.(232-234)AACdel p.N78del CSNK1E_uc003avk.2_In_Frame_Del_p.N78del|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_In_Frame_Del_p.N78del|CSNK1E_uc003avo.2_In_Frame_Del_p.N78del|CSNK1E_uc003avp.1_In_Frame_Del_p.N78del|CSNK1E_uc003avq.1_In_Frame_Del_p.N78del|LOC400927_uc010gxm.2_RNA NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 78 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) TGACCATCACGTTGTAGTCGCCC 0.621 TNRC6B 23112 broad.mit.edu 37 22 40661353 40661353 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:40661353delA uc011aor.1 + 5 1330 c.1119delA c.(1117-1119)CCAfs p.P373fs TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Frame_Shift_Del_p.P373fs|TNRC6B_uc003ayo.2_Frame_Shift_Del_p.P177fs NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 373 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 CTGATGGACCAAAAAATGGAA 0.453 CELSR1 9620 broad.mit.edu 37 22 46793727 46793728 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:46793727_46793728insC uc003bhw.1 - 12 5544_5545 c.5544_5545insG c.(5542-5547)GGGACGfs p.G1848fs CELSR1_uc011arc.1_Frame_Shift_Ins_p.G169fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1848_1849 Extracellular (Potential).|Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTGGTGGGCGTCCCCCCCATCC 0.599 NBEAL2 23218 broad.mit.edu 37 3 47040920 47040920 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:47040920delC uc003cqp.2 + 25 3838 c.3659delC c.(3658-3660)TCCfs p.S1220fs NBEAL2_uc010hjm.1_Frame_Shift_Del_p.S728fs|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1220 Leu-rich. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGGACTGTTTCCCCCCAGCTC 0.632 ACAD11 84129 broad.mit.edu 37 3 132322086 132322086 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:132322086delT uc003eov.3 - 13 1988 c.1608delA c.(1606-1608)AAAfs p.K536fs ACAD11_uc011blr.1_Frame_Shift_Del_p.K147fs NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 536 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 TGCTCCACCATTTTTTGCCGT 0.373 SR140 23350 broad.mit.edu 37 3 142773947 142773948 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:142773947_142773948insA uc003evh.1 + 27 3036_3037 c.2937_2938insA c.(2935-2940)AGCAAAfs p.S979fs SR140_uc003evi.1_Frame_Shift_Ins_p.S570fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Ins_p.S978fs NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 979_980 Arg/Ser-rich. RNA processing nucleus nucleotide binding|RNA binding 0 GAGATGTTAGCAAAAAAGCCAA 0.391 CCDC39 339829 broad.mit.edu 37 3 180378490 180378490 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:180378490delT uc010hxe.2 - 4 499 c.384delA c.(382-384)AAAfs p.K128fs CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 128 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AACCATCCAATTTTTGAGTGG 0.368 CCDC39 339829 broad.mit.edu 37 3 180379660 180379661 + Frame_Shift_Del DEL TT TT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:180379660_180379661delTT uc010hxe.2 - 3 460_461 c.345_346delAA c.(343-348)AAAAGTfs p.K115fs CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 115_116 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTTTATCACTTTTCTTTTCCA 0.347 CHRD 8646 broad.mit.edu 37 3 184105718 184105718 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:184105718delG uc003fov.2 + 20 2698 c.2452_splice c.e20-1 p.G818_splice CHRD_uc003fow.2_Splice_Site_p.G448_splice|CHRD_uc003fox.2_Splice_Site_p.G818_splice|CHRD_uc003foy.2_Splice_Site_p.G448_splice|CHRD_uc010hyc.2_Splice_Site_p.G408_splice|CHRD_uc011brr.1_Splice_Site_p.G360_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATCCCTACAGGGGGGCACTG 0.607 DLG1 1739 broad.mit.edu 37 3 196857544 196857545 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:196857544_196857545insA uc003fxo.3 - 12 1310 c.1120_splice c.e12-1 p.V374_splice DLG1_uc011bub.1_Splice_Site_p.V258_splice|DLG1_uc011buc.1_Splice_Site_p.V258_splice|DLG1_uc011bud.1_Splice_Site_p.V57_splice|DLG1_uc003fxn.3_Splice_Site_p.V374_splice|DLG1_uc011bue.1_Splice_Site_p.V341_splice|DLG1_uc010ial.2_Splice_Site_p.V374_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTATTCACCTAAAAAAAGTCC 0.332 BOD1L 259282 broad.mit.edu 37 4 13610162 13610162 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:13610162delT uc003gmz.1 - 8 1851 c.1734delA c.(1732-1734)AAAfs p.K578fs BOD1L_uc010idr.1_5'UTR NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 578 Lys-rich. DNA binding ovary(5)|breast(1) 6 ACCTTGAATCTTTTTTTCTCT 0.358 SLC10A6 345274 broad.mit.edu 37 4 87769943 87769943 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:87769943delC uc003hqd.2 - 1 474 c.326delG c.(325-327)GGCfs p.G109fs NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 109 Helical; (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) AGAGATGGTGCCCCCCGGGCA 0.502 RG9MTD2 93587 broad.mit.edu 37 4 100479335 100479335 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:100479335delT uc003huy.2 - 3 532 c.219delA c.(217-219)AAAfs p.K73fs RG9MTD2_uc003huz.3_Frame_Shift_Del_p.K73fs|RG9MTD2_uc003hva.3_Frame_Shift_Del_p.K73fs NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 73 Potential. methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) GTCGCTCTAATTTTTTCCTCT 0.328 ANKRD50 57182 broad.mit.edu 37 4 125591535 125591535 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:125591535delA uc003ifg.3 - 3 3163 c.2897delT c.(2896-2898)TTAfs p.L966fs ANKRD50_uc011cgo.1_Frame_Shift_Del_p.L787fs|ANKRD50_uc010inw.2_Frame_Shift_Del_p.L966fs NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 966 ANK 15. central_nervous_system(1) 1 ACCATTTTCTAAAAAATATTC 0.428 TRIO 7204 broad.mit.edu 37 5 14482694 14482694 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:14482694delA uc003jff.2 + 46 6475 c.6469delA c.(6469-6471)AAAfs p.K2157fs TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Frame_Shift_Del_p.K1806fs NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2157 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GTTTTAGGGGAAAATCGTTGC 0.453 TTC33 23548 broad.mit.edu 37 5 40716477 40716477 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:40716477delT uc003jma.2 - 5 707 c.559delA c.(559-561)AGTfs p.S187fs TTC33_uc011cpm.1_Frame_Shift_Del_p.S79fs|TTC33_uc010ivg.2_3'UTR NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 187 binding ovary(1) 1 GGTGCTTCACTTTTTTTAATC 0.428 PGGT1B 5229 broad.mit.edu 37 5 114552569 114552570 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:114552569_114552570insC uc003kqw.3 - 8 965_966 c.944_945insG c.(943-945)AGTfs p.S315fs PGGT1B_uc003kqx.3_Frame_Shift_Ins_p.S192fs|PGGT1B_uc010jch.2_Frame_Shift_Ins_p.S238fs NM_005023 NP_005014 P53609 PGTB1_HUMAN geranylgeranyltransferase type 1 beta 315 PFTB 4. protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity 0 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) TACCTGGATGACTGTCTGGCCA 0.327 COL23A1 91522 broad.mit.edu 37 5 177683356 177683356 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:177683356delG uc003mje.2 - 15 1238 c.880delC c.(880-882)CGGfs p.R294fs COL23A1_uc010jkt.2_Frame_Shift_Del_p.P141fs NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 294 Extracellular (Potential).|Collagen-like 2.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CAGCTTACCCGGGGCCCTGCA 0.647 GABRR1 2569 broad.mit.edu 37 6 89895130 89895130 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:89895130delT uc003pna.2 - 7 1150 c.695delA c.(694-696)AAGfs p.K232fs GABRR1_uc011dzv.1_Frame_Shift_Del_p.K209fs NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 232 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GTCATTGCCCTTTTTCCAGTA 0.498 PTPN12 5782 broad.mit.edu 37 7 77247840 77247840 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:77247840delA uc003ugh.2 + 12 1074 c.983delA c.(982-984)GAAfs p.E328fs PTPN12_uc011kgp.1_Frame_Shift_Del_p.E209fs|PTPN12_uc011kgq.1_Frame_Shift_Del_p.E198fs|PTPN12_uc010lds.2_Frame_Shift_Del_p.E60fs NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 328 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 ATAGAGCCTGAAAAACAAGAT 0.363 PCLO 27445 broad.mit.edu 37 7 82582944 82582944 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:82582944delT uc003uhx.2 - 5 7614 c.7325delA c.(7324-7326)AAGfs p.K2442fs PCLO_uc003uhv.2_Frame_Shift_Del_p.K2442fs|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2373 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AACTGTTAACTTTTTTTTAGG 0.274 CROT 54677 broad.mit.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:86978480delA uc003uit.2 + 3 341 c.96delA c.(94-96)TTAfs p.L32fs CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uiu.2_Frame_Shift_Del_p.L32fs NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 32 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AAGAATCATTAAAAAAATACC 0.264 HEPACAM2 253012 broad.mit.edu 37 7 92844875 92844875 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:92844875delT uc003umm.2 - 3 577 c.554delA c.(553-555)AATfs p.N185fs HEPACAM2_uc003uml.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc010lff.2_Frame_Shift_Del_p.N173fs|HEPACAM2_uc011khy.1_Frame_Shift_Del_p.N208fs NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 185 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 AGGTCTCCCATTTTTTAGCCA 0.507 TECPR1 25851 broad.mit.edu 37 7 97862826 97862827 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:97862826_97862827insA uc003upg.2 - 11 1783_1784 c.1578_1579insT c.(1576-1581)TATGGGfs p.Y526fs TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 526_527 integral to membrane protein binding pancreas(1) 1 TCATCCACCCCATACGGCTCCT 0.673 SLC12A9 56996 broad.mit.edu 37 7 100452000 100452000 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:100452000delG uc003uwp.2 + 2 323 c.181delG c.(181-183)GGGfs p.G61fs SLC12A9_uc003uwo.1_Frame_Shift_Del_p.D61fs|SLC12A9_uc003uwq.2_Frame_Shift_Del_p.D61fs|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 61 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TCTGAGGATTGGTGAGTGGGT 0.582 SSPO 23145 broad.mit.edu 37 7 149489430 149489431 + Frame_Shift_Del DEL GT GT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:149489430_149489431delGT uc010lpk.2 + 38 5583_5584 c.5583_5584delGT c.(5581-5586)TGGTGTfs p.W1861fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1861_1862 EGF-like 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCGAGGGGTGGTGTGTGTGGCC 0.683 KIAA0146 23514 broad.mit.edu 37 8 48511719 48511720 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:48511719_48511720insG uc003xqd.2 + 10 1514_1515 c.1505_1506insG c.(1504-1506)CAGfs p.Q502fs KIAA0146_uc011lda.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.1_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.1_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.2_Frame_Shift_Ins_p.Q191fs NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 502 0 Lung NSC(58;0.175) AGGGGTCAGCAGGGGGCCAGCT 0.594 DDX58 23586 broad.mit.edu 37 9 32459462 32459462 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:32459462delT uc003zra.2 - 17 2546 c.2388delA c.(2386-2388)AAAfs p.K796fs DDX58_uc010mjj.2_RNA|DDX58_uc010mji.2_Frame_Shift_Del_p.K725fs NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 796 Repressor domain. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) CAGGTTTTGGTTTTTCTTGAC 0.358 GLIPR2 152007 broad.mit.edu 37 9 36147846 36147847 + Frame_Shift_Ins INS - - C rs60088684 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:36147846_36147847insC uc003zyz.2 + 2 111_112 c.77_78insC c.(76-78)GTCfs p.V26fs GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs NM_022343 NP_071738 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 26 extracellular region|Golgi membrane skin(3)|central_nervous_system(1) 4 AAGCACGGCGTCCCCCCACTGA 0.540 ZCCHC7 84186 broad.mit.edu 37 9 37126641 37126642 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:37126641_37126642insG uc003zzq.2 + 2 485_486 c.312_313insG c.(310-315)AAAGGAfs p.K104fs ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc010mlt.2_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 104_105 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) ATAGATGTAAAGGAAAGAATGT 0.386 INVS 27130 broad.mit.edu 37 9 103055250 103055251 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:103055250_103055251delAG uc004bap.1 + 14 2923_2924 c.2711_2712delAG c.(2710-2712)CAGfs p.Q904fs INVS_uc011lve.1_Frame_Shift_Del_p.Q808fs|INVS_uc004bao.1_Frame_Shift_Del_p.Q734fs|INVS_uc004baq.1_Frame_Shift_Del_p.Q638fs|INVS_uc004bar.1_Frame_Shift_Del_p.Q808fs|INVS_uc010mtb.1_Frame_Shift_Del_p.Q578fs NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 904 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) CAGATAATTCAGAGAGAACGAA 0.535 IKBKAP 8518 broad.mit.edu 37 9 111668653 111668653 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:111668653delG uc004bdm.3 - 14 2093 c.1573delC c.(1573-1575)CGGfs p.R525fs IKBKAP_uc004bdl.2_Frame_Shift_Del_p.R176fs|IKBKAP_uc011lwc.1_Frame_Shift_Del_p.R411fs|IKBKAP_uc010mtq.2_Frame_Shift_Del_p.R176fs NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 525 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 ATGACAGACCGGGGGCTGAAC 0.468 GTF3C4 9329 broad.mit.edu 37 9 135554691 135554691 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:135554691delA uc010mzv.2 + 2 1943 c.1685delA c.(1684-1686)GAAfs p.E562fs GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 562 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GAAGCTTTGGAAAAAAAGATT 0.353 RBBP7 5931 broad.mit.edu 37 X 16887283 16887285 + In_Frame_Del DEL TTC TTC - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:16887283_16887285delTTC uc004cxt.2 - 2 433_435 c.75_77delGAA c.(73-78)AAGAAT>AAT p.K25del RBBP7_uc004cxs.1_In_Frame_Del_p.K69del|RBBP7_uc004cxu.2_In_Frame_Del_p.K25del NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 25 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) AAACGGTGTATTCTTCTTCCAGA 0.433 USP9X 8239 broad.mit.edu 37 X 41060495 41060497 + In_Frame_Del DEL GAT GAT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:41060495_41060497delGAT uc004dfb.2 + 31 5419_5421 c.4786_4788delGAT c.(4786-4788)GATdel p.D1598del USP9X_uc004dfc.2_In_Frame_Del_p.D1598del NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1598 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TAGTGATGTAGATGATGATATGT 0.394 ZC3H12A 80149 broad.mit.edu 37 1 37945977 37945980 + Frame_Shift_Del DEL TGTT TGTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:37945976_37945979GTGTT>G uc001cbb.4 + 2 679_682 c.529_532GTGTT>G c.(529-534)gtgtttfs p.V177fs ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA. 177 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGACATCACAGTGTTTGTGCCATC 0.623 MEAF6 64769 broad.mit.edu 37 1 37961495 37961496 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:37961494_37961495G>GT uc001cbe.1 - 6 605_606 c.588_589C>AC c.(586-591)aaaccafs p.K196fs MEAF6_uc001cbd.1_Frame_Shift_Ins_p.K164fs|MEAF6_uc009vvd.1_Non-coding_Transcript|MEAF6_uc001cbg.1_Frame_Shift_Ins_p.K186fs|MEAF6_uc001cbh.1_3'UTR NM_022756 NP_073593 Q9HAF1 EAF6_HUMAN Homo sapiens MYST/Esa1-associated factor 6 (MEAF6), mRNA. 186 histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus protein binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 ACAGCTCGTGGTTTTTTGTTTA 0.381 LPPR5 163404 broad.mit.edu 37 1 99470033 99470034 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:99470032_99470033C>CG uc001dsb.3 - 0 417_418 c.195_196G>CG c.(193-198)cccgtgfs p.P65fs LOC100129620_uc001dsd.1_Non-coding_Transcript|LPPR5_uc001dsc.3_Frame_Shift_Ins_p.P65fs NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA. 65 integral to membrane hydrolase activity TAGAGGAGCACGGGGGGCACGG 0.708 CDC14A 8556 broad.mit.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - rs138415707 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:100889836_100889836AC>A uc001dtf.2 + 4 856 c.368_368AC>A c.(367-369)aacfs p.N123fs CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs NM_033312 NP_201569 Q9UNH5 CC14A_HUMAN Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA. 123 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TCTGGCTCAAACCCCCCCTAT 0.403 TTF2 8458 broad.mit.edu 37 1 117633229 117633229 + Frame_Shift_Del DEL T T - rs144621848 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:117633228_117633228GT>G uc001egy.3 + 14 2591 c.2571_2571GT>G c.(2569-2571)gtgfs p.V857fs NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 857 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TTTACAATGTGTTTTTTGCAA 0.378 ISG20L2 81875 broad.mit.edu 37 1 156694023 156694024 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:156694022_156694023A>AG uc001fps.1 - 1 1126_1127 c.865_866T>CT c.(865-867)ctcfs p.L289fs ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs NM_030980 NP_112242 Q9H9L3 I20L2_HUMAN Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA. 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTCCGGTTGAGGGGGGGGATA 0.559 SEC16B 89866 broad.mit.edu 37 1 177927333 177927333 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:177927332_177927332TG>T uc001glj.1 - 14 2169 c.1303_1303CA>A c.(1303-1305)agtfs p.S435fs SEC16B_uc001glk.1_Frame_Shift_Del_p.S111fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gli.1_Frame_Shift_Del_p.S434fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.S93fs|SEC16B_uc001gll.4_Frame_Shift_Del_p.S435fs NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 434 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GTCTCCACACTGGGGGGGATC 0.567 RGS21 431704 broad.mit.edu 37 1 192335245 192335245 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:192335244_192335244CT>C uc001gsh.3 + 4 623 c.449_449CT>C c.(448-450)cctfs p.P150fs NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 150 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 AAATGGCTCCCTTTTTTGTGA 0.333 DENND1B 163486 broad.mit.edu 37 1 197509197 197509198 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:197509196_197509197A>AT uc021pgu.1 - 19 1750_1751 c.1412_1413T>AT c.(1411-1413)aatfs p.N471fs DENND1B_uc010ppf.2_Non-coding_Transcript NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AATCTTCTTCATTTTCCTACAC 0.312 LGR6 59352 broad.mit.edu 37 1 202288157 202288157 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:202288156_202288156GC>G uc001gxu.3 + 17 2725 c.2725_2725GC>G c.(2725-2727)gccfs p.A909fs LGR6_uc001gxv.3_Frame_Shift_Del_p.A857fs|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Frame_Shift_Del_p.A770fs NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 909 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GCAGCCAGGGGCCCCCAGGCT 0.622 CR2 1380 broad.mit.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:207642043_207642043TC>T uc001hfw.3 + 2 736 c.617_617TC>T c.(616-618)gtcfs p.V206fs CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACA 0.393 TP53BP2 7159 broad.mit.edu 37 1 223991931 223991931 + Frame_Shift_Del DEL T T - rs146703239 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr1:223991930_223991930CT>C uc001hod.3 - 6 1019 c.208_208AG>G c.(208-210)gtgfs p.V70fs TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank NM_005426 NP_005417 Q13625 ASPP2_HUMAN Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA. 193 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) AGTGCTCTCACTTTTTTTAGC 0.378 UNC50 25972 broad.mit.edu 37 2 99232795 99232795 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:99232794_99232794CT>C uc010yvl.2 + 3 811 c.577_577CT>C c.(577-579)cttfs p.L193fs UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs NM_014044 NP_054763 Q53HI1 UNC50_HUMAN Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA. 176 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 TTTTATCCAGCTTTTTTTCAT 0.413 TMEM87B 84910 broad.mit.edu 37 2 112839024 112839024 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:112839023_112839023AT>A uc002thm.2 + 7 1135 c.766_766AT>A c.(766-768)attfs p.I256fs TMEM87B_uc010fkg.2_Frame_Shift_Del_p.I239fs|TMEM87B_uc010fkh.2_3'UTR NM_032824 NP_116213 Q96K49 TM87B_HUMAN Homo sapiens transmembrane protein 87B (TMEM87B), mRNA. 256 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 TGCAGCTGTTATTTTTTTGGG 0.343 TBR1 10716 broad.mit.edu 37 2 162274290 162274290 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:162274289_162274289GT>G uc002ubw.1 + 1 1097 c.795_795GT>G c.(793-795)aggfs p.R265fs TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN Homo sapiens T-box, brain, 1 (TBR1), mRNA. 265 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 ATCACTGGAGGTTTCAAGGAG 0.423 KCNH7 90134 broad.mit.edu 37 2 163361170 163361170 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:163361169_163361169TA>T uc002uch.2 - 6 1143 c.914_splice c.e6-1 p.G305_splice KCNH7_uc002uci.3_Splice_Site_p.G298_splice NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 305 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAAAAGGCCCTAAAAAAATGG 0.373 SCN7A 6332 broad.mit.edu 37 2 167262855 167262855 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:167262854_167262854GA>G uc002udu.2 - 24 4415 c.4285_4285TC>C c.(4285-4287)caafs p.Q1429fs SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 1429 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ATTGCAACTTGAAAAAGACAG 0.358 FASTKD1 79675 broad.mit.edu 37 2 170428530 170428531 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:170428529_170428530G>GT uc002uev.4 - 1 398_399 c.10_11C>AC c.(10-12)acafs p.T4fs FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR NM_024622 NP_078898 Q53R41 FAKD1_HUMAN Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA. 4 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 GAAAACAGGTGTTTTTTTCATT 0.366 DCAF17 80067 broad.mit.edu 37 2 172334538 172334538 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:172334537_172334537TA>T uc002ugx.3 + 11 1550 c.1223_1223TA>T c.(1222-1224)gtafs p.V408fs DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.V341fs|DCAF17_uc010fqg.3_Frame_Shift_Del_p.V128fs NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA. 408 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 GGACGGGTGGTAAAAAAAAGT 0.368 NEUROD1 4760 broad.mit.edu 37 2 182542972 182542973 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:182542971_182542972T>TG uc021vto.1 - 0 616_617 c.616_617A>CA c.(616-618)cacfs p.H206fs CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Frame_Shift_Ins_p.H206fs|NEUROD1_uc021vtn.1_Frame_Shift_Ins_p.H206fs NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 RAPH1 65059 broad.mit.edu 37 2 204305619 204305620 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:204305618_204305619T>TG uc002vad.3 - 13 2519_2520 c.2294_2295A>CA c.(2293-2295)ccafs p.P765fs NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA. 765 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGGAGGAGGTGGGGGGGGTGT 0.609 CCDC108 255101 broad.mit.edu 37 2 219883883 219883883 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:219883882_219883882CG>C uc002vjl.1 - 20 3577 c.3493_3493CG>G c.(3493-3495)gtcfs p.V1165fs CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1165 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGTGAGGACGGGGGGGATC 0.612 DNPEP 23549 broad.mit.edu 37 2 220239648 220239649 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:220239647_220239648T>TG uc002vle.2 - 13 1482_1483 c.1336_1337A>CA c.(1336-1338)caafs p.Q446fs DNPEP_uc002vli.2_Frame_Shift_Ins_p.Q393fs|DNPEP_uc010zlg.2_Frame_Shift_Ins_p.Q454fs NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA. 436 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CATGGCCAGTTGGGGGCTGCCT 0.604 SP140 11262 broad.mit.edu 37 2 231159025 231159026 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:231159024_231159025G>GA uc002vql.3 + 20 2122_2123 c.2007_2008G>GA c.(2005-2010)aggaaafs p.R669fs SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Frame_Shift_Ins_p.R555fs|SP140_uc002vqm.3_Frame_Shift_Ins_p.R609fs|SP140_uc010fxl.3_Frame_Shift_Ins_p.R642fs NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 669 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K672fs*4(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACGTTACAGGAAAAAAAAGGT 0.371 PER2 8864 broad.mit.edu 37 2 239157776 239157777 + Frame_Shift_Del DEL CT CT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:239157775_239157776ACT>A uc002vyc.3 - 21 3782_3783 c.3545_3546AGT>T c.(3544-3546)agtfs p.S1182fs PER2_uc010znv.1_Frame_Shift_Del_p.S1182fs NM_022817 NP_073728 O15055 PER2_HUMAN Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA. 1182 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCTGCTTCTGACTCTCCGTGAA 0.540 HDAC4 9759 broad.mit.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:240002822_240002822TG>T uc002vyk.4 - 21 3496 c.2704_2704CA>A c.(2704-2706)atgfs p.M902fs HDAC4_uc010fyy.3_Frame_Shift_Del_p.M859fs NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 902 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GCGTCTCCCATGGGGGGGTCC 0.597 HDLBP 3069 broad.mit.edu 37 2 242186274 242186274 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr2:242186273_242186273AT>A uc002waz.3 - 15 2017 c.1844_1844AT>T c.(1843-1845)atcfs p.I615fs HDLBP_uc002wba.3_Frame_Shift_Del_p.I615fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.I582fs NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 615 KH 7. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TGGAAGGTCGATTTTGGTGTT 0.488 LAMB2 3913 broad.mit.edu 37 3 49160436 49160436 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:49160435_49160435AC>A uc003cwe.3 - 26 4574 c.4275_4275GT>T c.(4273-4275)ggtfs p.G1425fs USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 1425 Domain alpha. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACAGCCGGCACCCCCACAAG 0.662 DNAH1 25981 broad.mit.edu 37 3 52412624 52412624 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:52412623_52412623GC>G uc011bef.2 + 46 7465 c.7204_7204GC>G c.(7204-7206)gccfs p.A2402fs NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2402 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCAGCTGGGGCCCCCCACAT 0.627 CD86 942 broad.mit.edu 37 3 121838329 121838329 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:121838328_121838328GT>G uc003eet.3 + 6 1065 c.937_937GT>G c.(937-939)gttfs p.V313fs CD86_uc011bjo.2_Frame_Shift_Del_p.V231fs|CD86_uc011bjp.2_Frame_Shift_Del_p.V201fs|CD86_uc003eeu.3_Frame_Shift_Del_p.V307fs|CD86_uc021xcz.1_Frame_Shift_Del_p.V259fs NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 313 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AGCCCAGCGTGTTTTTAAAAG 0.323 TOPBP1 11073 broad.mit.edu 37 3 133329880 133329880 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:133329879_133329879AT>A uc003eps.3 - 24 4274 c.4142_4142AT>T c.(4141-4143)atcfs p.I1381fs NM_007027 NP_008958 Q92547 TOPB1_HUMAN Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA. 1381 DNA repair|response to ionizing radiation PML body|microtubule organizing center|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCTTTGCTGGATTTTTTTTCT 0.343 Other conserved DNA damage response genes MED12L 116931 broad.mit.edu 37 3 151112598 151112599 + In_Frame_Ins INS - - GCA TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:151112597_151112598T>TGCA uc003eyp.3 + 36 5786_5787 c.5657_5658T>TGCA c.(5656-5658)ctg>cTGCA p.L1886L MED12L_uc011bnz.2_In_Frame_Ins_p.L1746L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 1886 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGAAGCTTCTGCAGCAGCAGC 0.535 PHC3 80012 broad.mit.edu 37 3 169896635 169896636 + In_Frame_Ins INS - - TGG TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:169896634_169896635A>ATGG uc003fgl.2 - 1 140_141 c.106_107T>CCAT c.(106-108)atc>CCATc p.I36P PHC3_uc010hws.1_In_Frame_Ins_p.I24P|PHC3_uc011bpq.1_In_Frame_Ins_p.I36P|PHC3_uc011bpr.1_In_Frame_Ins_p.I36P|PHC3_uc003fgm.2_In_Frame_Ins_p.I36P|PHC3_uc003fgo.1_In_Frame_Ins_p.I24P|PHC3_uc003fgp.3_In_Frame_Ins_p.I36P|PHC3_uc003fgq.3_In_Frame_Ins_p.I36P|PHC3_uc003fgr.1_Non-coding_Transcript NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 24 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GGAAgtggtgatggtggtggtg 0.495 NCEH1 57552 broad.mit.edu 37 3 172351857 172351857 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:172351856_172351856AT>A uc011bpx.2 - 4 894 c.756_756AT>T c.(754-756)aatfs p.N252fs NCEH1_uc003fig.3_Frame_Shift_Del_p.N244fs|NCEH1_uc011bpw.2_Frame_Shift_Del_p.N79fs|NCEH1_uc011bpy.2_Frame_Shift_Del_p.N79fs NM_001146276 NP_001139750 Q6PIU2 NCEH1_HUMAN Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA. 212 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GTTTGAGCTTATTTTTTAGGC 0.373 B3GNT5 84002 broad.mit.edu 37 3 182987674 182987674 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:182987673_182987673GT>G uc003flm.3 + 1 610 c.87_87GT>G c.(85-87)atgfs p.M29fs MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA. 29 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGAGCCTCATGTTTTTTTGGG 0.353 DLG1 1739 broad.mit.edu 37 3 196857545 196857546 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr3:196857544_196857545T>TA uc010ial.3 - 12 1379 c.1120_splice c.e12-1 p.V374_splice DLG1_uc011bub.2_Splice_Site_p.V258_splice|DLG1_uc011buc.2_Splice_Site_p.V258_splice|DLG1_uc011bud.2_Splice_Site_p.V57_splice|DLG1_uc003fxo.4_Splice_Site_p.V374_splice|DLG1_uc003fxn.4_Splice_Site_p.V374_splice|DLG1_uc011bue.2_Splice_Site_p.V341_splice|DLG1_uc011buf.1_Splice_Site|DLG1_uc003fxp.2_Splice_Site|DLG1_uc010iam.1_Splice_Site_p.V341_splice|DLG1_uc010ian.2_Splice_Site_p.V241_splice NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 374 PDZ 2. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTATTCACCTAAAAAAAGTCC 0.332 ZBTB49 166793 broad.mit.edu 37 4 4304738 4304739 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:4304737_4304738CAG>C uc003ghu.3 + 2 1349_1350 c.1174_1175CAG>C c.(1174-1176)cagfs p.Q392fs ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Frame_Shift_Del_p.Q92fs NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 ACTTCAGTCCCAGAGACAATAC 0.480 PCDH7 5099 broad.mit.edu 37 4 30726043 30726044 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:30726042_30726043T>TC uc003gsk.1 + 0 4006_4007 c.2998_2999T>TC c.(2998-3000)tccfs p.S1000fs PCDH7_uc011bxx.2_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnd.1_Frame_Shift_Ins_p.S1000fs|PCDH7_uc021xnc.1_Frame_Shift_Ins_p.S1000fs NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 1000 homophilic cell adhesion integral to plasma membrane calcium ion binding p.Y1000*(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CAAATCTAGTTCCCCATTGCCT 0.525 FRYL 285527 broad.mit.edu 37 4 48566025 48566025 + Frame_Shift_Del DEL G G - rs137912004 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:48566024_48566024CG>C uc003gyh.1 - 30 4142 c.3537_3537CG>G c.(3535-3537)acgfs p.T1179fs FRYL_uc003gyk.3_Frame_Shift_Del_p.T1179fs|FRYL_uc003gyi.1_Frame_Shift_Del_p.T68fs NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCCCGGAGCCCGTGTAGCAGC 0.502 C4orf22 255119 broad.mit.edu 37 4 81791254 81791255 + Frame_Shift_Ins INS - - A rs146690045 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr4:81791253_81791254G>GA uc010ijp.3 + 4 540_541 c.491_492G>GA c.(490-492)ggafs p.G164fs C4orf22_uc003hmf.3_Frame_Shift_Ins_p.G147fs NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 147 p.G147E(1) NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TACTTTACTGGAAAAAAAAGAC 0.371 HTR1A 3350 broad.mit.edu 37 5 63256737 63256744 + Frame_Shift_Del DEL CTTGCTCT CTTGCTCT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:63256736_63256743CCTTGCTCT>C uc011cqt.2 - 0 804_811 c.804_811AGAGCAAGG>G c.(802-813)gagagcaaggctfs p.E268fs NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 268 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.V267M(1)|p.E268*(1) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCACCCCCAGCCTTGCTCTCCACGCCCA 0.659 MSH3 4437 broad.mit.edu 37 5 79970915 79970916 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:79970914_79970915C>CA uc003kgz.3 + 6 1393_1394 c.1140_1141C>CA c.(1138-1143)gacaaafs p.D380fs NM_002439 NP_002430 P20585 MSH3_HUMAN Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA. 380 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATGTTAGGGACAAAAAAAAGGG 0.347 Mismatch excision repair (MMR) PGGT1B 5229 broad.mit.edu 37 5 114552570 114552571 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:114552569_114552570A>AC uc003kqw.4 - 7 965_966 c.944_945T>GT c.(943-945)agtfs p.S315fs PGGT1B_uc010jch.3_Frame_Shift_Ins_p.S238fs NM_005023 NP_005014 P53609 PGTB1_HUMAN Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA. 315 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) TACCTGGATGACTGTCTGGCCA 0.327 NRG2 9542 broad.mit.edu 37 5 139422136 139422136 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:139422135_139422135GC>G uc003lev.2 - 0 750 c.520_520GC>C c.(520-522)ctgfs p.L174fs NRG2_uc003lew.2_Frame_Shift_Del_p.L174fs|NRG2_uc003lex.2_Frame_Shift_Del_p.L174fs|NRG2_uc003ley.2_Frame_Shift_Del_p.L174fs|NRG2_uc021yed.1_Frame_Shift_Del_p.L174fs NM_013982 NP_053585 O14511 NRG2_HUMAN Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA. 174 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGCTGCAGCCCCCCGCTC 0.662 GALNT10 55568 broad.mit.edu 37 5 153789315 153789315 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr5:153789314_153789314TG>T uc003lvh.3 + 8 1510 c.1378_1378TG>T c.(1378-1380)tggfs p.W460fs GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Frame_Shift_Del_p.W301fs|FLJ38109_uc003lvi.3_Intron NM_198321 NP_938080 Q86SR1 GLT10_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA. 460 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GGCTGCAGCTTGGGGGGAGGT 0.532 PRPF4B 8899 broad.mit.edu 37 6 4032412 4032412 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:4032411_4032411GA>G uc003mvv.3 + 1 751 c.660_660GA>G c.(658-660)aggfs p.R220fs PRPF4B_uc011dhv.1_Non-coding_Transcript NM_003913 NP_003904 Q13523 PRP4B_HUMAN Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA. 220 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CAAAGGAGAGGAAAAAATCTA 0.383 JARID2 3720 broad.mit.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:15496721_15496721TG>T uc003nbj.3 + 6 1509 c.1265_1265TG>T c.(1264-1266)gtgfs p.V422fs JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 422 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) ACTAAGGAGGTGGGGGGGCGG 0.667 KLHDC3 116138 broad.mit.edu 37 6 42986249 42986249 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:42986248_42986248TC>T uc003otl.3 + 5 992 c.687_687TC>T c.(685-687)tgtfs p.C229fs KLHDC3_uc003otn.3_Frame_Shift_Del_p.C113fs|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Frame_Shift_Del_p.C214fs|KLHDC3_uc003oto.3_Frame_Shift_Del_p.C170fs NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA. 229 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGCTGGACTGTCCCCCGACTC 0.587 KLHL31 401265 broad.mit.edu 37 6 53519759 53519760 + Frame_Shift_Ins INS - - T rs72352601 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:53519758_53519759C>CT uc003pcb.4 - 1 453_454 c.312_313G>AG c.(310-315)aaagacfs p.K104fs NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA. 104 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) ATTGACGGGTCTTTTTTTAGGA 0.421 CD109 135228 broad.mit.edu 37 6 74492481 74492481 + Splice_Site DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:74492480_74492480TA>T uc003php.3 + 18 2536 c.2105_splice c.e18+2 p.G702_splice CD109_uc003phq.3_Splice_Site_p.G702_splice|CD109_uc010kba.3_Splice_Site_p.G625_splice NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 702 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CAACATGGGGTAAAAATTTAT 0.348 SGK1 6446 broad.mit.edu 37 6 134492026 134492028 + In_Frame_Del DEL AGA AGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:134492025_134492027GAGA>G uc003qen.4 - 10 1154_1156 c.1065_1067TCTC>C c.(1063-1068)ttctcc>ttCc p.S356del SGK1_uc003qeo.4_In_Frame_Del_p.S451del|SGK1_uc011ect.2_In_Frame_Del_p.S346del|SGK1_uc011ecu.2_In_Frame_Del_p.S312del|SGK1_uc011ecv.2_In_Frame_Del_p.S370del|SGK1_uc011ecw.2_In_Frame_Del_p.S384del NM_005627 NP_005618 O00141 SGK1_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA. 356 AGC-kinase C-terminal. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GTTAATTAAGGAGAAGAAGACAT 0.404 BCLAF1 9774 broad.mit.edu 37 6 136597290 136597290 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:136597289_136597289AT>A uc003qgx.1 - 4 1627 c.1374_1374AT>T c.(1372-1374)aatfs p.N458fs BCLAF1_uc003qgy.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Frame_Shift_Del_p.N456fs|BCLAF1_uc003qgw.1_Intron NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 458 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TAAGTTTATAATTTTTTTCTT 0.358 PDE10A 10846 broad.mit.edu 37 6 165844963 165844964 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr6:165844962_165844963T>TA uc003qun.3 - 9 909 c.664_splice c.e9-1 p.V222_splice PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 222 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGTTGCAACCTAAAAAAAACAA 0.327 TECPR1 25851 broad.mit.edu 37 7 97862827 97862828 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:97862826_97862827C>CA uc003upg.3 - 10 1783_1784 c.1578_1579G>TG c.(1576-1581)tatgggfs p.Y526fs TECPR1_uc003uph.1_Frame_Shift_Ins_p.Y456fs NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 526 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCATCCACCCCATACGGCTCCT 0.673 PLOD3 8985 broad.mit.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - rs138002558 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:100855926_100855926CG>C uc003uyd.3 - 8 1346 c.890_890CG>G c.(889-891)cggfs p.R297fs NM_001084 NP_001075 O60568 PLOD3_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. 297 protein modification process rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.R297fs*61(2)|p.P296L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CAGAAACACCCGGGGGGGAGG 0.642 LEP 3952 broad.mit.edu 37 7 127894705 127894705 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:127894704_127894704TG>T uc003vml.2 + 2 449 c.392_392TG>T c.(391-393)ctgfs p.L131fs LEP_uc003vmm.2_Frame_Shift_Del_p.L130fs NM_000230 NP_000221 P41159 LEP_HUMAN Homo sapiens leptin (LEP), mRNA. 131 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 TTGGACAGCCTGGGGGGTGTC 0.627 JHDM1D 80853 broad.mit.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr7:139833447_139833447CT>C uc003vvm.3 - 2 294 c.290_290AG>G c.(289-291)aggfs p.R97fs NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 97 Linker. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CCAGTTCCTCCTTTTTTTCAC 0.338 DLC1 10395 broad.mit.edu 37 8 12957359 12957359 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:12957358_12957358AG>A uc003wwm.2 - 8 2932 c.2488_2488CT>T c.(2488-2490)tcgfs p.S830fs DLC1_uc003wwk.1_Frame_Shift_Del_p.S393fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.S427fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.S319fs NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 830 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTATTCCCCGAGGGGGAGAAA 0.577 BMP1 649 broad.mit.edu 37 8 22067038 22067038 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:22067037_22067037TG>T uc003xbg.3 + 18 2921 c.2655_2655TG>T c.(2653-2655)cctfs p.P885fs BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 885 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) ACAACTACCCTGGGGGTGTGG 0.622 PIWIL2 55124 broad.mit.edu 37 8 22175773 22175773 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:22175772_22175772TA>T uc003xbn.2 + 19 2535 c.2387_2387TA>T c.(2386-2388)ttafs p.L796fs PIWIL2_uc011kzf.1_Frame_Shift_Del_p.L796fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.L796fs NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA. 796 Piwi. DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTGGGCTCCTTAAAAAAGTTT 0.458 FZD3 7976 broad.mit.edu 37 8 28385159 28385160 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:28385158_28385159A>AT uc003xgx.3 + 4 1410_1411 c.881_882A>AT c.(880-882)tatfs p.Y294fs FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs NM_017412 NP_665873 Q9NPG1 FZD3_HUMAN Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA. 294 G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) ATGATACTCTATTTTTTTACTA 0.421 WHSC1L1 54904 broad.mit.edu 37 8 38187222 38187223 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38187221_38187222G>GT uc003xli.3 - 5 1773_1774 c.1255_1256C>AC c.(1255-1257)accfs p.T419fs WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 419 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGGTCGTCGGGTTTTTTTAACT 0.431 T NUP98 AML ADAM9 8754 broad.mit.edu 37 8 38961220 38961220 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:38961219_38961219AT>A uc003xmr.3 + 21 2538 c.2460_2460AT>A c.(2458-2460)tgafs p.*820fs ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript NM_003816 NP_003807 Q13443 ADAM9_HUMAN Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA. 0 PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CCCTCACTTGATTTTTTTAAC 0.408 CHRNB3 1142 broad.mit.edu 37 8 42587571 42587572 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:42587570_42587571G>GA uc003xpi.1 + 4 1248_1249 c.1120_1121G>GA c.(1120-1122)gaafs p.E374fs NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 374 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CAAAGTCCTCGAAAAAAAGAAA 0.391 KIAA0146 23514 broad.mit.edu 37 8 48511720 48511721 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:48511719_48511720A>AG uc003xqd.3 + 9 1567_1568 c.1505_1506A>AG c.(1504-1506)cagfs p.Q502fs KIAA0146_uc011lda.2_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc011ldb.2_Frame_Shift_Ins_p.Q502fs|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_Frame_Shift_Ins_p.Q432fs|KIAA0146_uc011ldd.2_Frame_Shift_Ins_p.Q442fs|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Frame_Shift_Ins_p.Q191fs|KIAA0146_uc010lxt.3_Frame_Shift_Ins_p.Q191fs NM_001080394 NP_001073863 Q14159 K0146_HUMAN Homo sapiens KIAA0146 (KIAA0146), mRNA. 502 central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Lung NSC(58;0.175) AGGGGTCAGCAGGGGGCCAGCT 0.594 PLAG1 5324 broad.mit.edu 37 8 57079754 57079754 + Frame_Shift_Del DEL T T - rs141930943 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:57079753_57079753CT>C uc003xsq.4 - 2 1003 c.552_552AG>G c.(550-552)aagfs p.K184fs PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 184 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CGCACTGGTGCTTTTTTTCTT 0.483 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma ARFGEF1 10565 broad.mit.edu 37 8 68128856 68128857 + Frame_Shift_Ins INS - - G rs142098461 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:68128855_68128856T>TG uc003xxo.2 - 32 5045_5046 c.4655_4656A>CA c.(4654-4656)ccafs p.P1552fs ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 CA2 760 broad.mit.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:86386634_86386634AT>A uc003ydk.2 + 3 613 c.433_433AT>A c.(433-435)attfs p.I145fs NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 145 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CGTTCTAGGTATTTTTTTGAA 0.388 SPATC1 375686 broad.mit.edu 37 8 145095784 145095785 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145095783_145095784G>GC uc011lkw.2 + 2 1183_1184 c.1081_1082G>GC c.(1081-1083)gccfs p.A361fs SPATC1_uc011lkx.2_Frame_Shift_Ins_p.A361fs NM_198572 NP_940974 Q76KD6 SPERI_HUMAN Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA. 361 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCCCAGGGTGCCCCCCATCCC 0.658 OPLAH 26873 broad.mit.edu 37 8 145109542 145109543 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145109541_145109542T>TG uc003zar.3 - 18 2690_2691 c.2608_2609A>CA c.(2608-2610)cacfs p.H870fs OPLAH_uc003zas.1_Frame_Shift_Ins_p.P144fs NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 870 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CATGGTGGAGTGGGGGGGCATG 0.639 KIFC2 90990 broad.mit.edu 37 8 145692659 145692659 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr8:145692658_145692658AG>A uc003zcz.3 + 3 468 c.403_403AG>A c.(403-405)aggfs p.R135fs CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN Homo sapiens kinesin family member C2 (KIFC2), mRNA. 135 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCGAAGCCCCAGGGGGAGGCA 0.612 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLIPR2 152007 broad.mit.edu 37 9 36147847 36147848 + Frame_Shift_Ins INS - - C rs60088684 byFrequency TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:36147846_36147847T>TC uc003zyz.3 + 1 111_112 c.77_78T>TC c.(76-78)gtcfs p.V26fs GLIPR2_uc011lpj.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc010mlf.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zyy.1_Frame_Shift_Ins_p.V26fs|GLIPR2_uc003zza.3_Non-coding_Transcript NM_022343 NP_071738 Q9H4G4 GAPR1_HUMAN Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA. 26 Golgi membrane|extracellular region p.V26I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3) 10 AAGCACGGCGTCCCCCCACTGA 0.540 ZCCHC7 84186 broad.mit.edu 37 9 37126642 37126643 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:37126641_37126642A>AG uc003zzq.3 + 1 485_486 c.312_313A>AG c.(310-315)aaaggafs p.K104fs ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Frame_Shift_Ins_p.K104fs|ZCCHC7_uc010mlt.3_Frame_Shift_Ins_p.K103fs|ZCCHC7_uc003zzs.1_Frame_Shift_Ins_p.K103fs NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA. 104 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) ATAGATGTAAAGGAAAGAATGT 0.386 TDRD7 23424 broad.mit.edu 37 9 100234680 100234682 + In_Frame_Del DEL TTG TTG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:100234679_100234681CTTG>C uc004axj.3 + 9 2071_2073 c.1846_1848CTTG>C c.(1846-1848)ctt>C p.L616del TDRD7_uc011lux.2_In_Frame_Del_p.L542del|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_5'UTR NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN Homo sapiens tudor domain containing 7 (TDRD7), mRNA. 616 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TGACATTCCACTTGTTGTTCTGT 0.429 KIAA0368 23392 broad.mit.edu 37 9 114131416 114131416 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:114131415_114131415AT>A uc004bfe.1 - 46 5547 c.5547_5547AT>T c.(5545-5547)aatfs p.N1849fs NM_001080398 NP_001073867 Homo sapiens KIAA0368 (KIAA0368), mRNA. NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TCTCCTCTTCATTTTTGGTTG 0.438 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:125861041_125861041TA>T uc011lzh.2 + 22 2915 c.2781_2781TA>T c.(2779-2781)attfs p.I927fs RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 927 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AATCTGAGATTAAAAAAAACA 0.398 LAMC3 10319 broad.mit.edu 37 9 133932467 133932467 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:133932466_133932466AG>A uc004caa.1 + 11 2188 c.2090_2090AG>A c.(2089-2091)cagfs p.Q697fs NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 697 Laminin EGF-like 5; second part. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GAGATGCCACAGGGGGGTCCC 0.612 TTF1 7270 broad.mit.edu 37 9 135277202 135277203 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:135277201_135277202C>CT uc004cbl.3 - 1 1076_1077 c.1007_1008G>AG c.(1006-1008)aagfs p.K336fs TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 336 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGGACTTTTTCTTTTTTTTCTT 0.510 TTF1 7270 broad.mit.edu 37 9 135277373 135277374 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:135277372_135277373C>CT uc004cbl.3 - 1 905_906 c.836_837G>AG c.(835-837)aagfs p.K279fs TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 279 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACTTTTTCTTCTTTTTTTTCTT 0.480 RALGDS 5900 broad.mit.edu 37 9 135975666 135975667 + Frame_Shift_Del DEL GA GA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr9:135975665_135975666TGA>T uc004cco.3 - 16 2578_2579 c.2558_2559TCA>A c.(2557-2559)tcafs p.S853fs RALGDS_uc004ccn.3_Frame_Shift_Del_p.S41fs|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Frame_Shift_Del_p.S841fs|RALGDS_uc004ccr.3_Frame_Shift_Del_p.S852fs|RALGDS_uc011mcv.2_Frame_Shift_Del_p.S824fs|RALGDS_uc004ccs.3_Frame_Shift_Del_p.S798fs|RALGDS_uc011mcw.2_Frame_Shift_Del_p.S924fs|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 853 Ras-associating. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCCGGTCATCTGAGAGAATCTG 0.579 T CIITA """PMBL, Hodgkin Lymphona, """ LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:890938_890938GT>G uc001ifs.1 - 4 529 c.488_488AC>C c.(487-489)acafs p.T163fs NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 163 HTH La-type RNA-binding. RNA binding|nucleotide binding p.T163P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GAATTCCAATGTTTTTTTAAG 0.353 AKR1E2 83592 broad.mit.edu 37 10 4889693 4889694 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:4889692_4889693CAA>C uc001ihi.3 + 9 1048_1049 c.933_934CAA>C c.(931-936)cacaaafs p.H311fs AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Frame_Shift_Del_p.H254fs|AKR1E2_uc009xhw.3_Frame_Shift_Del_p.H213fs NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA. 311 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 CTAAAAATCACAAAGACTATCC 0.342 SVIL 6840 broad.mit.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:29760115_29760115TC>T uc001iut.1 - 30 6340 c.5587_5587GA>A c.(5587-5589)atgfs p.M1863fs LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1863 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGCACCACCATCCCCCCCTGG 0.527 C10orf25 220979 broad.mit.edu 37 10 45496243 45496243 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:45496242_45496242TG>T uc001jbv.2 - 0 229 c.66_66CA>A c.(64-66)ccafs p.P22fs ZNF22_uc001jbw.3_5'Flank|ZNF22_uc021ppo.1_5'Flank NM_001039380 NP_001034469 Q5T742 CJ025_HUMAN Homo sapiens chromosome 10 open reading frame 25 (C10orf25), mRNA. 22 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 CCTTCCGAGTTGGGGGGAGGA 0.587 MAPK8 5599 broad.mit.edu 37 10 49613019 49613020 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:49613018_49613019C>CA uc001jgp.3 + 1 295_296 c.246_247C>CA c.(244-249)cacaaafs p.H82fs MAPK8_uc001jgn.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgm.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgo.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc001jgq.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc009xoa.3_Frame_Shift_Ins_p.H82fs|MAPK8_uc021ppy.1_Frame_Shift_Ins_p.H82fs|MAPK8_uc010qgk.2_Frame_Shift_Ins_p.H82fs NM_139049 NP_620637 P45983 MK08_HUMAN Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA. 82 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding p.K83*(3) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GTGTTAATCACAAAAATGTAAG 0.332 TET1 80312 broad.mit.edu 37 10 70446284 70446285 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:70446283_70446284C>CA uc001jok.4 + 10 5728_5729 c.5223_5224C>CA c.(5221-5226)cgcaaafs p.R1741fs NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1741 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CACCCCGCCGCAAAAAAAGAAC 0.490 TIAL1 7073 broad.mit.edu 37 10 121338303 121338303 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:121338302_121338302AC>A uc001lei.1 - 6 1056 c.492_492GT>T c.(490-492)ggtfs p.G164fs TIAL1_uc001leh.1_Frame_Shift_Del_p.G142fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.G181fs|TIAL1_uc001lek.1_Frame_Shift_Del_p.G41fs|TIAL1_uc010qtb.1_Frame_Shift_Del_p.G41fs NM_003252 NP_003243 Q01085 TIAR_HUMAN Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA. 164 RRM 2. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule RNA binding|nucleotide binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) TTTGACGACCACCCAACCACT 0.398 PLEKHA1 59338 broad.mit.edu 37 10 124189146 124189146 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr10:124189145_124189145TC>T uc001lge.2 + 11 1155 c.906_906TC>T c.(904-906)catfs p.H302fs PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Frame_Shift_Del_p.H302fs|PLEKHA1_uc021qae.1_5'Flank NM_001001974 NP_067635 Q9HB21 PKHA1_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA. 302 B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGCAGGAGCATCCCCCCGGTC 0.502 SPTY2D1 144108 broad.mit.edu 37 11 18638501 18638502 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:18638500_18638501C>CT uc001moy.3 - 1 312_313 c.96_97G>AG c.(94-99)aaagacfs p.K32fs SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.K32fs NM_194285 NP_919261 Q68D10 SPT2_HUMAN Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA. 32 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 ACTTTTGGGTCTTTTTTTGGAG 0.347 MED19 219541 broad.mit.edu 37 11 57472193 57472193 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:57472192_57472192TG>T uc001nla.1 - 3 593 c.571_splice c.e3+1 p.E191_splice MED19_uc001nlb.3_Splice_Site_p.G191_splice NM_153450 NP_703151 A0JLT2 MED19_HUMAN Homo sapiens mediator complex subunit 19 (MED19), mRNA. 191 Lys-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex cervix(1)|large_intestine(1)|lung(1)|ovary(2) 5 GCTTCTTACCTGGGGGGACAG 0.418 ARHGEF17 9828 broad.mit.edu 37 11 73021527 73021528 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:73021526_73021527G>GC uc001otu.3 + 0 1864_1865 c.1843_1844G>GC c.(1843-1845)gccfs p.A615fs NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 615 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGGAAGCGATGCCCCCCCTGGA 0.614 SYTL2 54843 broad.mit.edu 37 11 85468672 85468673 + Frame_Shift_Del DEL CT CT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:85468671_85468672ACT>A uc010rth.2 - 0 486_487 c.97_98AGT>T c.(97-99)gtcfs p.V33fs SYTL2_uc010rtg.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.V33fs|SYTL2_uc010rtj.2_Intron|SYTL2_uc001pbf.4_Frame_Shift_Del_p.V33fs NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA. 33 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCTTACCTGACTCTCTCTTCT 0.475 EXPH5 23086 broad.mit.edu 37 11 108409862 108409862 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:108409861_108409861CT>C uc001pkk.3 - 2 444 c.333_333AG>G c.(331-333)aagfs p.K111fs EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 111 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAGGTGTCGGCTTTTTTTGAT 0.353 USP2 9099 broad.mit.edu 37 11 119243862 119243862 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:119243861_119243861GC>G uc001pwm.4 - 1 625 c.330_330GC>C c.(328-330)ggcfs p.G110fs USP2_uc001pwn.4_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 110 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GGAATCCGCTGCCCCCGCTGA 0.627 ROBO3 64221 broad.mit.edu 37 11 124748274 124748276 + In_Frame_Del DEL CCT CCT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr11:124748273_124748275ACCT>A uc001qbc.3 + 21 3430_3432 c.3261_3263ACCT>A c.(3259-3264)ccacct>ccAt p.1087_1088PP>P ROBO3_uc010saq.2_3'UTR|ROBO3_uc001qbd.2_In_Frame_Del_p.12_13PP>P|ROBO3_uc010sar.2_In_Frame_Del_p.136_137PP>P|ROBO3_uc001qbe.3_In_Frame_Del_p.12_13PP>P|ROBO3_uc001qbf.1_Intron NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 1087 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CCCTGCCCCCACCTCCTCCTTCT 0.611 LRRK2 120892 broad.mit.edu 37 12 40657647 40657648 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:40657646_40657647T>TA uc001rmg.4 + 13 1720_1721 c.1599_1600T>TA c.(1597-1602)gttaaafs p.V533fs LRRK2_uc001rmh.1_Frame_Shift_Ins_p.V155fs NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 533 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TAAATATGGTTAAAAAACAGTG 0.297 DDN 23109 broad.mit.edu 37 12 49391527 49391529 + In_Frame_Del DEL CTC CTC - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:49391526_49391528TCTC>T uc001rsv.1 - 1 1149_1151 c.1131_1133GAGA>A c.(1129-1134)ggagaa>ggAa p.E378del NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 378 Interaction with ACTN1. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CCAGATCTGTTCTCCTTCTTTCC 0.631 TROAP 10024 broad.mit.edu 37 12 49717805 49717805 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:49717804_49717804GC>G uc009zlh.3 + 2 488 c.321_321GC>G c.(319-321)gggfs p.G107fs TROAP_uc001rtv.3_Frame_Shift_Del_p.G107fs|TROAP_uc001rtw.4_Frame_Shift_Del_p.G107fs|TROAP_uc001rtx.4_Frame_Shift_Del_p.G107fs NM_005480 NP_005471 Q12815 TROAP_HUMAN Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA. 107 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGGGGCCTGGGCCCCCTGCCC 0.577 LETMD1 25875 broad.mit.edu 37 12 51442249 51442249 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:51442248_51442248TG>T uc009zlw.3 + 0 167 c.109_109TG>T c.(109-111)tggfs p.W37fs LETMD1_uc010smz.2_Frame_Shift_Del_p.W37fs|LETMD1_uc010sna.2_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxm.3_Frame_Shift_Del_p.W37fs|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Intron|LETMD1_uc001rxt.3_5'Flank NM_001243689 NP_001230618 Q6P1Q0 LTMD1_HUMAN Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 37 Required and sufficient for mitochondrial import. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 TGGCCTGGCTTGGGGGGCCCC 0.587 OREG0021818 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PCBP2 5094 broad.mit.edu 37 12 53856278 53856278 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:53856277_53856277TC>T uc001sdl.4 + 7 867 c.517_517TC>T c.(517-519)tccfs p.S173fs PCBP2_uc001sde.4_Splice_Site_p.S169_splice|PCBP2_uc001sdi.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdd.4_Splice_Site_p.S169_splice|PCBP2_uc001sdf.4_Splice_Site_p.S169_splice|PCBP2_uc001sdc.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdb.4_Splice_Site_p.S169_splice|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_Splice_Site|PCBP2_uc010soh.1_Splice_Site_p.S169_splice NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA. 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAA 0.498 GDF11 10220 broad.mit.edu 37 12 56142524 56142524 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:56142523_56142523TA>T uc001shq.3 + 1 636 c.599_599TA>T c.(598-600)ctafs p.L200fs NM_005811 NP_005802 O95390 GDF11_HUMAN Homo sapiens growth differentiation factor 11 (GDF11), mRNA. 200 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 ATCTTGCGACTAAAACCCCTA 0.612 SLC17A8 246213 broad.mit.edu 37 12 100774560 100774560 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:100774559_100774559GC>G uc010svi.2 + 1 495 c.182_182GC>G c.(181-183)agcfs p.S61fs SLC17A8_uc009ztx.3_Frame_Shift_Del_p.S61fs NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 61 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TCCAGGCCAAGCCCCCCACTC 0.527 PXMP2 5827 broad.mit.edu 37 12 133277870 133277870 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr12:133277869_133277869AG>A uc001ukt.3 + 3 498 c.433_433AG>A c.(433-435)aggfs p.R145fs PGAM5_uc010tbr.2_Non-coding_Transcript NM_018663 NP_061133 Q9NR77 PXMP2_HUMAN Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA. 145 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CGCCAAGATGAGGGGGGGCTT 0.612 PABPC3 5042 broad.mit.edu 37 13 25670802 25670803 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:25670801_25670802T>TA uc001upy.3 + 0 526_527 c.465_466T>TA c.(463-468)attaaafs p.I155fs NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 155 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAGAGCTATTAAAAAAATGAA 0.396 SLC46A3 283537 broad.mit.edu 37 13 29291959 29291959 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:29291958_29291958CA>C uc001usj.3 - 1 720 c.178_178TG>G c.(178-180)gcafs p.A60fs SLC46A3_uc001usg.3_5'Flank|SLC46A3_uc001usi.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001ush.3_Frame_Shift_Del_p.A60fs|SLC46A3_uc001usk.3_5'Flank NM_001135919 NP_001129391 Q7Z3Q1 S46A3_HUMAN Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA. 60 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) TCCTGGAATGCAAAAATTGGG 0.348 SERPINE3 647174 broad.mit.edu 37 13 51922451 51922451 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:51922450_51922450AC>A uc001vfh.2 + 3 862 c.802_802AC>A c.(802-804)accfs p.T268fs SERPINE3_uc010tgp.2_Frame_Shift_Del_p.T268fs NM_001101320 NP_001094790 A8MV23 SERP3_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA. 268 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 TGACAAAGACACCCCCCTGAG 0.612 TBC1D4 9882 broad.mit.edu 37 13 75869048 75869048 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr13:75869047_75869047AG>A uc001vjl.1 - 17 3606 c.3259_3259CT>T c.(3259-3261)tggfs p.W1087fs TBC1D4_uc010tht.1_Frame_Shift_Del_p.W297fs|TBC1D4_uc010thu.1_Frame_Shift_Del_p.W244fs|TBC1D4_uc010aer.2_Frame_Shift_Del_p.W1079fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.W1024fs NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 1087 Rab-GAP TBC. cytoplasm Rab GTPase activator activity p.P1086L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GTGAGGAACCAGGGGGCAGCA 0.403 NIN 51199 broad.mit.edu 37 14 51239111 51239113 + In_Frame_Del DEL AGG AGG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:51239110_51239112CAGG>C uc001wyi.3 - 8 1079_1081 c.888_890CCTG>G c.(886-891)tcctgc>tcGc p.C297del NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_In_Frame_Del_p.C297del|NIN_uc001wyk.3_In_Frame_Del_p.C297del|NIN_uc001wyo.3_In_Frame_Del_p.C297del|NIN_uc001wyp.1_In_Frame_Del_p.C259del NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 297 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ATCATCCAGGCAGGAGAAGACCC 0.522 T PDGFRB MPD NID2 22795 broad.mit.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:52481918_52481918CG>C uc001wzo.3 - 14 3338 c.3104_3104CG>G c.(3103-3105)cggfs p.R1035fs NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 1035 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGTCATCCCGGGGGGTGCC 0.627 KCNH5 27133 broad.mit.edu 37 14 63473193 63473193 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:63473192_63473192TG>T uc001xfx.3 - 3 249 c.198_splice c.e3-1 p.S66_splice KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 66 PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TACATAAAACTGGGGGGGAAA 0.353 RPS6KA5 9252 broad.mit.edu 37 14 91366489 91366489 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr14:91366488_91366488CT>C uc001xys.2 - 10 1558 c.1343_1343AG>G c.(1342-1344)agtfs p.S448fs RPS6KA5_uc010twi.1_Frame_Shift_Del_p.S369fs|RPS6KA5_uc001xyt.3_Frame_Shift_Del_p.S448fs NM_004755 NP_004746 O75582 KS6A5_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA. 448 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AGCTTGGTTACTTTTTTTATG 0.323 SLC12A1 6557 broad.mit.edu 37 15 48548096 48548096 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:48548095_48548095TA>T uc001zwn.4 + 15 2246 c.2030_2030TA>T c.(2029-2031)gtafs p.V677fs SLC12A1_uc010uew.1_Frame_Shift_Del_p.V483fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.V677fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.V448fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.V404fs NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 677 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GAAGACCACGTAAAAAACTTC 0.458 ZNF609 23060 broad.mit.edu 37 15 64967247 64967248 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr15:64967246_64967247C>CA uc002ann.3 + 3 2193_2194 c.2193_2194C>CA c.(2191-2196)gacaaafs p.D731fs NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 731 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAAGAAAGACAAAAAAAAGAA 0.490 CLDN6 9074 broad.mit.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3065455_3065455AC>A uc021tbb.1 - 0 568 c.568_568GT>T c.(568-570)tccfs p.S190fs CLDN6_uc002csu.4_Frame_Shift_Del_p.S190fs NM_021195 NP_067018 P56747 CLD6_HUMAN Homo sapiens claudin 6 (CLDN6), mRNA. 190 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.G189R(1) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGGCCCTGGGACCCCCCCGAG 0.647 ZNF434 54925 broad.mit.edu 37 16 3433515 3433516 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:3433514_3433515A>AT uc002cux.4 - 6 1687_1688 c.1428_1429T>AT c.(1426-1431)ccatccfs p.P476fs ZNF434_uc010uwx.2_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuy.4_Frame_Shift_Ins_p.P188fs|ZNF434_uc002cuz.3_Frame_Shift_Ins_p.P265fs NM_017810 NP_060280 Q9NX65 ZN434_HUMAN Homo sapiens zinc finger protein 434 (ZNF434), mRNA. 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTCTCCTGGGATGGGGTTTTCT 0.485 ASPHD1 253982 broad.mit.edu 37 16 29912628 29912629 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:29912627_29912628C>CT uc002dut.3 + 0 481_482 c.335_336C>CT c.(334-336)gctfs p.A112fs BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 112 Gly-rich. peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 GGGAGCCGAGCTGGGGGTGTTC 0.688 ZNF48 197407 broad.mit.edu 37 16 30409299 30409299 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:30409298_30409298CG>C uc002dya.2 + 1 1103 c.727_727CG>C c.(727-729)cggfs p.R243fs ZNF48_uc021tgi.1_Frame_Shift_Del_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.R243fs NM_152652 NP_001201836 Q96MX3 ZNF48_HUMAN Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA. 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R243W(2)|p.R243L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCGGACACACCGGGGGGAGCA 0.647 SF3B3 23450 broad.mit.edu 37 16 70599405 70599405 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:70599404_70599404GA>G uc002ezf.3 + 19 3014 c.2803_2803GA>G c.(2803-2805)gaafs p.E935fs NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 935 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GAACAATGGGGAAAAACTGGA 0.463 CFDP1 10428 broad.mit.edu 37 16 75448501 75448501 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr16:75448500_75448500CT>C uc002fdy.3 - 1 295 c.158_158AG>G c.(157-159)agafs p.R53fs CFDP1_uc002fdz.3_5'UTR|CFDP1_uc002fea.1_Frame_Shift_Del_p.R53fs NM_006324 NP_006315 Q9UEE9 CFDP1_HUMAN Homo sapiens craniofacial development protein 1 (CFDP1), mRNA. 53 Glu-rich. multicellular organismal development endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 CTGGGCCTTTCTTTTTTTCCC 0.443 SLC16A13 201232 broad.mit.edu 37 17 6939720 6939720 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:6939719_6939719GC>G uc002geh.3 + 0 326 c.18_18GC>G c.(16-18)gagfs p.E6fs NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA. 6 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GCAGGACAGAGCCCCCCGACG 0.672 YBX2 51087 broad.mit.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:7193636_7193636TG>T uc002gfq.2 - 4 735 c.678_678CA>A c.(676-678)ccafs p.P226fs NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Homo sapiens Y box binding protein 2 (YBX2), mRNA. 226 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 AGAAGAAGGGTGGGGGGCACC 0.657 AOC3 8639 broad.mit.edu 37 17 41003597 41003598 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 GPATCH8 23131 broad.mit.edu 37 17 42478368 42478368 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:42478367_42478367CT>C uc002igw.2 - 7 1297 c.1078_1078AG>G c.(1078-1080)gagfs p.E360fs GPATCH8_uc002igv.2_Frame_Shift_Del_p.E282fs|GPATCH8_uc010wiz.2_Frame_Shift_Del_p.E282fs NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 360 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TCTTCATCCTCTTTTTTACCA 0.468 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) XYLT2 64132 broad.mit.edu 37 17 48433967 48433968 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:48433966_48433967A>AC uc002iqo.3 + 7 1686_1687 c.1577_1578A>AC c.(1576-1578)tacfs p.Y526fs XYLT2_uc010dbo.3_Non-coding_Transcript NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN Homo sapiens xylosyltransferase II (XYLT2), mRNA. 526 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TATGGCAGCTACCCCCCCGGCA 0.604 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 RNF43 54894 broad.mit.edu 37 17 56437531 56437531 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:56437530_56437530AG>A uc002iwf.3 - 6 2888 c.932_932CT>T c.(931-933)ctcfs p.L311fs RNF43_uc010wnv.2_Frame_Shift_Del_p.L270fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.L311fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.L311fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.L184fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 311 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAACATGCAGAGGGGGCAAGT 0.552 PRR11 55771 broad.mit.edu 37 17 57271002 57271003 + In_Frame_Ins INS - - TCC TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:57271001_57271002T>TTCC uc002ixf.2 + 4 863_864 c.551_552T>TTCC c.(550-552)ttt>tTTCC p.F184F PRR11_uc021uar.1_Non-coding_Transcript NM_018304 NP_060774 Q96HE9 PRR11_HUMAN Homo sapiens proline rich 11 (PRR11), mRNA. 184 Pro-rich. breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCCAGCCATTTtcctcctcctc 0.550 SLC16A6 9120 broad.mit.edu 37 17 66270150 66270150 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:66270149_66270149GC>G uc002jha.2 - 3 608 c.295_295GC>C c.(295-297)ctafs p.L99fs ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.L99fs NM_001174166 NP_004685 O15403 MOT7_HUMAN Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA. 99 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CTGACAAGTAGCCCCCCCAAC 0.532 KIAA0195 9772 broad.mit.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr17:73491062_73491062TC>T uc010wsa.2 + 18 2897 c.2705_2705TC>T c.(2704-2706)atcfs p.I902fs KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 892 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTCCGAGATCCCCCCCTCC 0.612 ZBTB7C 201501 broad.mit.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr18:45567084_45567084TC>T uc010dnv.3 - 2 897 c.461_461GA>A c.(460-462)gacfs p.D154fs ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 132 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding p.E154K(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 ctcccccccgtcccccCCAGG 0.577 PLIN4 729359 broad.mit.edu 37 19 4512150 4512150 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:4512149_4512149GC>G uc002mar.1 - 2 1781 c.1781_1781GC>C c.(1780-1782)gcafs p.A594fs PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 594 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GACATTCACTGCCCCCACGAG 0.597 DNM2 1785 broad.mit.edu 37 19 10940882 10940883 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:10940881_10940882G>GC uc002mpt.2 + 19 2560_2561 c.2370_2371G>GC c.(2368-2373)gggcccfs p.G790fs DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs NM_001005360 NP_001005360 P50570 DYN2_HUMAN Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA. 790 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCACTCCAGGGCCCCCCCTGAT 0.693 """F, N, Splice, Mis, O""" ETP ALL CILP2 148113 broad.mit.edu 37 19 19656229 19656230 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:19656228_19656229A>AG uc002nmw.4 + 7 2977_2978 c.2892_2893A>AG c.(2890-2895)gcagggfs p.A964fs CILP2_uc002nmv.4_Frame_Shift_Ins_p.A958fs NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 958 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCCACAACGCAGGGGGCAGCCA 0.683 MLL2 8085 broad.mit.edu 37 19 36210764 36210765 + Frame_Shift_Ins INS - - C rs60207923 by1000genomes TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36210763_36210764A>AC uc021usv.1 + 2 514_515 c.514_515A>AC c.(514-516)accfs p.T172fs MLL2_uc021usu.1_5'UTR NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 629 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TGTGGCTCCTACCCCCCCAAAG 0.634 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) ZNF566 84924 broad.mit.edu 37 19 36940209 36940209 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:36940208_36940208GT>G uc010xtf.2 - 4 1066 c.931_931AC>C c.(931-933)cccfs p.P311fs ZNF566_uc002oea.4_Frame_Shift_Del_p.P310fs|ZNF566_uc010xte.2_Frame_Shift_Del_p.P310fs|ZNF566_uc002oeb.4_Frame_Shift_Del_p.P310fs|ZNF566_uc002oec.4_Frame_Shift_Del_p.P206fs|ZNF566_uc010xtg.2_Frame_Shift_Del_p.P206fs NM_001145343 NP_001138815 Q969W8 ZN566_HUMAN Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA. 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CATTCATAGGGTTTTTCCCCA 0.403 PSG11 5680 broad.mit.edu 37 19 43530519 43530519 + Frame_Shift_Del DEL C C - rs145338245 TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:43530518_43530518GC>G uc002ovm.1 - 0 114 c.7_7GC>C c.(7-9)cccfs p.P3fs PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Frame_Shift_Del_p.P3fs|PSG11_uc002ovo.1_Frame_Shift_Del_p.P3fs NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 3 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GCTGAGAGGGGCCCCATGATC 0.587 PRR12 57479 broad.mit.edu 37 19 50099279 50099280 + Frame_Shift_Del DEL CA CA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:50099278_50099279TCA>T uc002poo.4 + 3 1686_1687 c.1686_1687TCA>T c.(1684-1689)tctcacfs p.S562fs NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 330 Pro-rich. DNA binding p.S561S(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCAGCCCATCTCACATCATTCG 0.678 PTOV1 53635 broad.mit.edu 37 19 50363527 50363528 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:50363526_50363527T>TG uc002pqf.1 + 11 1411_1412 c.1241_1242T>TG c.(1240-1242)atgfs p.M414fs PTOV1_uc002pqb.4_Frame_Shift_Ins_p.W359fs|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA. 414 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane p.*417fs?(1) endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) TCGCCGTAGATGGGGGGGTAGT 0.658 KLK8 11202 broad.mit.edu 37 19 51503682 51503683 + Splice_Site INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr19:51503681_51503682G>GT uc002puq.1 - 3 551 c.365_splice c.e3+1 p.P122_splice KLK9_uc002puw.1_Splice_Site|KLK8_uc002pur.1_Splice_Site_p.P77_splice|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Splice_Site_p.P77_splice|KLK8_uc002puv.1_Intron NM_144505 NP_653088 O60259 KLK8_HUMAN Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA. 77 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TCCACTCACGGTTTTTTACAGT 0.599 PLK1S1 55857 broad.mit.edu 37 20 21143725 21143725 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:21143724_21143724GA>G uc002wsb.3 + 5 1409 c.1276_1276GA>G c.(1276-1278)gaafs p.E426fs PLK1S1_uc010zsh.2_Frame_Shift_Del_p.E323fs|PLK1S1_uc010zsi.2_Frame_Shift_Del_p.E293fs|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA. 426 spindle organization centrosome protein kinase binding CCTATCCACTGAAAAAAATTG 0.408 NXT1 29107 broad.mit.edu 37 20 23334926 23334927 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:23334925_23334926G>GA uc021wbj.1 + 0 247_248 c.247_248G>GA c.(247-249)gaafs p.E83fs NXT1_uc002wsx.1_Frame_Shift_Ins_p.E83fs NM_013248 NP_037380 Q9UKK6 NXT1_HUMAN Homo sapiens NTF2-like export factor 1 (NXT1), mRNA. 83 NTF2. cytoplasm|nuclear pore NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGTTCATGATGAAGCCACACCA 0.480 SAMHD1 25939 broad.mit.edu 37 20 35521429 35521429 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:35521428_35521428CT>C uc002xgh.2 - 15 1988 c.1788_1788AG>G c.(1786-1788)aagfs p.K596fs C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.2_Non-coding_Transcript NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 596 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) CGTTCCATTCCTTTTTTTGAG 0.418 ZNFX1 57169 broad.mit.edu 37 20 47872465 47872466 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr20:47872464_47872465C>CT uc002xui.3 - 8 2931_2932 c.2684_2685G>AG c.(2683-2685)aagfs p.K895fs NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 895 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTTTCATTTTCTTTTTCTGGTT 0.520 BRWD1 54014 broad.mit.edu 37 21 40570896 40570897 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:40570895_40570896G>GT uc002yxk.2 - 39 5741_5742 c.5446_5447C>AC c.(5446-5448)accfs p.T1816fs BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.T1816fs NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 1816 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.T1816N(3) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CAGAATCTTGGTTTTTTTAAAG 0.386 MCM3AP 8888 broad.mit.edu 37 21 47662805 47662806 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr21:47662804_47662805T>TA uc002zir.1 - 24 5373_5374 c.5337_5338A>TA c.(5335-5340)tttaaafs p.F1779fs MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.F274fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.F520fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.F706fs|MCM3AP-AS1_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 1779 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.K1780fs*5(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAATCGTTTTTAAAAAAATACA 0.436 TRIOBP 11078 broad.mit.edu 37 22 38121789 38121790 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:38121788_38121789G>GC uc003atr.3 + 6 3496_3497 c.3225_3226G>GC c.(3223-3228)tcgcccfs p.S1075fs TRIOBP_uc003atu.3_Frame_Shift_Ins_p.S903fs|TRIOBP_uc003atq.1_Frame_Shift_Ins_p.S1075fs|TRIOBP_uc003ats.1_Frame_Shift_Ins_p.S903fs NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1075 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GGGCGTCCTCGCCCCCCCGCCA 0.653 DDX17 10521 broad.mit.edu 37 22 38895455 38895455 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chr22:38895454_38895454TC>T uc003avy.4 - 2 592 c.489_489GA>A c.(487-489)ggafs p.G163fs DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCA 0.383 MAGEB3 4114 broad.mit.edu 37 X 30254466 30254466 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:30254465_30254465CA>C uc022bug.1 + 0 424 c.424_424CA>C c.(424-426)caafs p.Q142fs MAGEB3_uc004dca.2_Frame_Shift_Del_p.Q142fs NM_002365 NP_002356 O15480 MAGB3_HUMAN Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA. 142 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 AAAAATTGTCCAAAAAAGCCA 0.353 MAGEB4 4115 broad.mit.edu 37 X 30260427 30260427 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:30260426_30260426TC>T uc004dcb.3 + 0 370 c.174_174TC>T c.(172-174)attfs p.I58fs MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA. 58 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 CTTTTGGCATTCCCCAGGAGC 0.527 ARAF 369 broad.mit.edu 37 X 47426094 47426094 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:47426093_47426093GC>G uc011mlp.2 + 6 807 c.613_613GC>G c.(613-615)gccfs p.A205fs ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Frame_Shift_Del_p.A71fs|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA. 205 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CCCAGCCAATGCCCCCCTACA 0.632 CCNB3 85417 broad.mit.edu 37 X 50028182 50028182 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:50028181_50028181AC>A uc004dox.4 + 2 316 c.18_18AC>A c.(16-18)ccafs p.P6fs CCNB3_uc004doy.3_Frame_Shift_Del_p.P6fs|CCNB3_uc004doz.3_Frame_Shift_Del_p.P6fs|CCNB3_uc010njq.3_5'UTR NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 6 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TGCCACTACCACCCCAGAGCT 0.483 IRS4 8471 broad.mit.edu 37 X 107977803 107977804 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:107977802_107977803G>GC uc004eoc.2 - 0 1805_1806 c.1772_1773C>GC c.(1771-1773)ggcfs p.G591fs NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 591 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 GPC4 2239 broad.mit.edu 37 X 132439923 132439923 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f g.chrX:132439922_132439922TG>T uc004exc.1 - 5 1245 c.1033_1033CA>A c.(1033-1035)aagfs p.K345fs GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 345 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.K345fs*49(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GGGAGGGGCTTGGGGGGTCCA 0.592