Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ATAD3A 55210 broad.mit.edu 37 1 1451459 1451459 + Silent SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:1451459C>G uc001afz.1 + 2 367 c.273C>G c.(271-273)TCC>TCG p.S91S ATAD3A_uc001aga.1_Silent_p.S91S|ATAD3A_uc001agb.1_Silent_p.S12S NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 91 ATP binding|nucleoside-triphosphatase activity|protein binding skin(1) 1 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) AGCAACAGTCCAAGCTCAAAG 0.632 NaN 0 0 0 0.00245 0 13 26 ARHGEF16 27237 broad.mit.edu 37 1 3386012 3386012 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:3386012C>T uc001akg.3 + 6 1125 c.877C>T c.(877-879)CTC>TTC p.L293F ARHGEF16_uc001aki.2_Missense_Mutation_p.L5F|ARHGEF16_uc001akj.2_Missense_Mutation_p.L5F|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 293 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTTCGAGATCCTCACGTCGGA 0.627 NaN 0 0 0 0.004656 0 23 41 AJAP1 55966 broad.mit.edu 37 1 4832502 4832502 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:4832502C>T uc001alm.1 + 4 1461 c.1080C>T c.(1078-1080)TGC>TGT p.C360C AJAP1_uc001aln.2_Silent_p.C360C NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 360 Targeting signals.|Cytoplasmic (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CTCACGAGTGCGTCAGGGCAT 0.592 NaN 0 0 0 0.006214 0 9 32 CHD5 26038 broad.mit.edu 37 1 6189100 6189100 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:6189100C>T uc001amb.1 - 23 3517 c.3417G>A c.(3415-3417)CAG>CAA p.Q1139Q CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1139 Helicase C-terminal. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTTCTTGTTCTGGCCGATGC 0.642 NaN 0 0 0 0.008871 0 18 26 UBE4B 10277 broad.mit.edu 37 1 10211454 10211454 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:10211454A>G uc001aqs.3 + 21 3474 c.2761A>G c.(2761-2763)AAC>GAC p.N921D UBE4B_uc001aqr.3_Missense_Mutation_p.N792D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N376D|UBE4B_uc001aqt.1_Missense_Mutation_p.N261D NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 921 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GATGTTGTGCAACCAGAACTA 0.458 NaN 0 0 0 0.00245 0 14 99 MASP2 10747 broad.mit.edu 37 1 11097835 11097835 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:11097835T>G uc001aru.2 - 7 944 c.923A>C c.(922-924)AAT>ACT p.N308T NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 308 Sushi 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AACGTGGCCATTAGGTGGCGC 0.502 NaN OREG0013096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 14 68 SPEN 23013 broad.mit.edu 37 1 16265833 16265833 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:16265833G>A uc001axk.1 + 15 11110 c.10906G>A c.(10906-10908)GAG>AAG p.E3636K SPEN_uc010obp.1_Missense_Mutation_p.E3595K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3636 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGAGTTCTCTGAGAGTCACCT 0.582 NaN 0 0 0 0.01441 0 75 156 SPEN 23013 broad.mit.edu 37 1 16265921 16265921 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:16265921G>A uc001axk.1 + 15 11198 c.10994G>A c.(10993-10995)TGA>TAA p.*3665* SPEN_uc010obp.1_Silent_p.*3624* NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3665 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCCTCCGTGTGAGCCACTGAG 0.552 NaN 0 0 0 0.01441 0 73 124 EPHA2 1969 broad.mit.edu 37 1 16464519 16464519 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:16464519C>T uc001aya.1 - 5 1278 c.1141G>A c.(1141-1143)GCC>ACC p.A381T EPHA2_uc010oca.1_Missense_Mutation_p.A381T NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 381 Extracellular (Potential).|Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CGCACACTGGCCTCACACGGC 0.657 NaN 0 0 0 0.001855 0 14 15 PADI1 29943 broad.mit.edu 37 1 17565174 17565174 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:17565174G>A uc001bah.1 + 13 1614 c.1522G>A c.(1522-1524)GAG>AAG p.E508K PADI1_uc010oco.1_Missense_Mutation_p.E65K|PADI1_uc010ocp.1_Missense_Mutation_p.E65K|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'Flank NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 508 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GAAGAAAGAAGAGGGTTATGG 0.607 NaN 0 0 0 0.000602 0 4 9 EIF4G3 8672 broad.mit.edu 37 1 21212781 21212781 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:21212781A>G uc001bec.2 - 14 2425 c.2169T>C c.(2167-2169)GAT>GAC p.D723D EIF4G3_uc010odi.1_Silent_p.D327D|EIF4G3_uc010odj.1_Silent_p.D722D|EIF4G3_uc009vpz.2_Silent_p.D443D|EIF4G3_uc001bed.2_Silent_p.D723D|EIF4G3_uc001bef.2_Silent_p.D759D|EIF4G3_uc001bee.2_Silent_p.D729D NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 723 eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TCAGGTGTACATCTTCTTTTA 0.423 NaN 0 0 0 0.012213 0 34 139 HNRNPR 10236 broad.mit.edu 37 1 23637803 23637803 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:23637803T>C uc001bgr.3 - 10 1339 c.1180A>G c.(1180-1182)ATG>GTG p.M394V HNRNPR_uc001bgo.2_Missense_Mutation_p.M4V|HNRNPR_uc001bgp.3_Missense_Mutation_p.M397V|HNRNPR_uc009vqk.2_Missense_Mutation_p.M296V|HNRNPR_uc001bgs.3_Missense_Mutation_p.M293V|HNRNPR_uc010odw.1_Missense_Mutation_p.M356V|HNRNPR_uc010odx.1_Missense_Mutation_p.M234V|HNRNPR_uc009vql.2_Missense_Mutation_p.M255V NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 394 RRM 3. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TTGCCATTCATTTCATCCATA 0.328 NaN 0 0 0 0.004672 0 3 23 MYOM3 127294 broad.mit.edu 37 1 24383902 24383902 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:24383902G>A uc001bin.3 - 37 4429 c.4266C>T c.(4264-4266)ATC>ATT p.I1422I MYOM3_uc001bil.3_Silent_p.I315I|MYOM3_uc001bim.3_Silent_p.I1079I NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1422 Ig-like C2-type 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGAACACACTGATGGTGACCT 0.562 NaN 0 0 0 0.013537 0 13 41 AHDC1 27245 broad.mit.edu 37 1 27874267 27874267 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:27874267G>A uc009vsy.2 - 6 5329 c.4360C>T c.(4360-4362)CCC>TCC p.P1454S AHDC1_uc009vsz.1_Missense_Mutation_p.P1454S NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1454 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCGTAGTGGGGCTGGCCCAGC 0.692 NaN 0 0 0 0.001168 0 5 13 THRAP3 9967 broad.mit.edu 37 1 36752825 36752825 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:36752825C>T uc001cae.3 + 4 1218 c.994C>T c.(994-996)CAG>TAG p.Q332* THRAP3_uc001caf.3_Nonsense_Mutation_p.Q332*|THRAP3_uc001cag.1_Nonsense_Mutation_p.Q332* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 332 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGCTCATCTCAGAAGGAGGA 0.517 NaN T USP6 aneurysmal bone cysts 0 0 0 0.00245 0 13 32 KIAA0754 643314 broad.mit.edu 37 1 39876750 39876750 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:39876750C>T uc009vvt.1 + 1 1575 c.813C>T c.(811-813)TTC>TTT p.F271F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 135 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGGAGGCTTCAGTGAGAAGC 0.512 NaN OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 7 12 KIAA0467 23334 broad.mit.edu 37 1 43909302 43909302 + Missense_Mutation SNP G G A rs141085666 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:43909302G>A uc001cjk.1 + 47 6425 c.5963G>A c.(5962-5964)CGA>CAA p.R1988Q KIAA0467_uc001cjl.1_5'Flank NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2887 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCTGGGAGCCGAGAGGCCCCC 0.602 NaN 0 0 0 0.008871 0 19 68 KIAA0467 23334 broad.mit.edu 37 1 43913626 43913626 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:43913626G>A uc001cjk.1 + 53 7312 c.6850G>A c.(6850-6852)GAG>AAG p.E2284K KIAA0467_uc001cjl.1_Missense_Mutation_p.E272K NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3183 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGAGAGGCTGAGCGGCACGT 0.572 NaN 0 0 0 0.004878 0 38 49 KDM4A 9682 broad.mit.edu 37 1 44169946 44169946 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:44169946G>A uc001cjx.2 + 22 3266 c.3100G>A c.(3100-3102)GAG>AAG p.E1034K uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 1034 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 CACAGAGAAAGAGGTTAAGCA 0.443 NaN 0 0 0 0.01441 0 48 93 PLK3 1263 broad.mit.edu 37 1 45268645 45268645 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:45268645G>A uc001cmn.2 + 7 868 c.768G>A c.(766-768)GGG>GGA p.G256G PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 256 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) TGCTCTGCGGGAGCCCTCCCT 0.622 NaN 0 0 0 0.010504 0 18 77 MKNK1 8569 broad.mit.edu 37 1 47024330 47024330 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:47024330G>A uc001cqb.2 - 14 1559 c.1315C>T c.(1315-1317)CCC>TCC p.P439S MKNK1_uc010omd.1_Missense_Mutation_p.P303S|MKNK1_uc001cqc.2_Missense_Mutation_p.P398S|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 439 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) GACTTGCAGGGAGGGGAAAGC 0.622 NaN 0 0 0 0.001984 0 5 37 PCSK9 255738 broad.mit.edu 37 1 55523773 55523773 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:55523773G>A uc001cyf.1 + 8 1536 c.1245G>A c.(1243-1245)CTG>CTA p.L415L PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 415 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 GGCAGAGACTGATCCACTTCT 0.617 NaN 0 0 0 0.005443 0 27 41 USP24 23358 broad.mit.edu 37 1 55566515 55566515 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:55566515C>T uc001cyg.3 - 41 4788 c.4788G>A c.(4786-4788)TGG>TGA p.W1596* NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1756 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GAAATACCTTCCAAAAATTCT 0.338 NaN 0 0 0 0.001984 0 7 19 PRKAA2 5563 broad.mit.edu 37 1 57161760 57161760 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:57161760G>A uc001cyk.3 + 6 787 c.716G>A c.(715-717)CGT>CAT p.R239H NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 239 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 TATCTCAATCGTTCTGTCGCC 0.433 NaN 0 0 0 0.01441 0 116 132 PRKAA2 5563 broad.mit.edu 37 1 57169763 57169763 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:57169763C>T uc001cyk.3 + 7 979 c.908C>T c.(907-909)ACA>ATA p.T303I NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 303 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 TTTGAATGTACAGAATCAGAA 0.383 NaN 0 0 0 0.011902 0 43 61 C8B 732 broad.mit.edu 37 1 57399040 57399040 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:57399040G>A uc001cyp.2 - 10 1587 c.1520C>T c.(1519-1521)CCC>CTC p.P507L C8B_uc010oon.1_Missense_Mutation_p.P445L|C8B_uc010ooo.1_Missense_Mutation_p.P455L NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 507 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 TCCTTGGCAGGGAGCACAGTG 0.552 NaN 0 0 0 0.00632 0 26 46 SAMD13 148418 broad.mit.edu 37 1 84791366 84791366 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:84791366A>G uc001djr.2 + 3 334 c.142A>G c.(142-144)ATG>GTG p.M48V SAMD13_uc010orw.1_Missense_Mutation_p.M34V|SAMD13_uc010orx.1_Missense_Mutation_p.M34V NM_001010971 NP_001010971 Q5VXD3 SAM13_HUMAN sterile alpha motif domain containing 13 isoform 54 SAM. 0 all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136) CTGGGCCGTGATGGATGTCGT 0.488 NaN 0 0 0 0.004656 0 27 39 COL24A1 255631 broad.mit.edu 37 1 86591602 86591602 + Silent SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:86591602A>C uc001dlj.2 - 3 459 c.417T>G c.(415-417)CCT>CCG p.P139P COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P139P NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 139 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTAATTTTTTAGGTAGTAATT 0.353 NaN 0 0 0 0.00333 0 22 18 CLCA4 22802 broad.mit.edu 37 1 87029431 87029431 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:87029431C>T uc009wcs.2 + 4 580 c.536C>T c.(535-537)TCA>TTA p.S179L CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 179 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CGTGCTAAGTCAAAAAAAATC 0.403 NaN 0 0 0 0.000602 0 5 38 RBMXL1 494115 broad.mit.edu 37 1 89449393 89449393 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:89449393C>T uc009wcx.2 - 3 833 c.117G>A c.(115-117)TTG>TTA p.L39L CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Silent_p.L39L NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 39 RRM. nucleotide binding|RNA binding 0 GGTCTTTTATCAAGAGTACTT 0.423 NaN OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013726 0 34 124 GBP7 388646 broad.mit.edu 37 1 89615138 89615138 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:89615138G>A uc001dna.2 - 7 1128 c.989C>T c.(988-990)GCA>GTA p.A330V GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 330 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GTGGTTGGCTGCCCTCTGCAC 0.577 NaN 0 0 0 0.01441 0 48 43 GBP5 115362 broad.mit.edu 37 1 89734510 89734510 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:89734510G>A uc001dnc.2 - 4 757 c.220C>T c.(220-222)CAC>TAC p.H74Y GBP5_uc001dnd.2_Missense_Mutation_p.H74Y|GBP5_uc001dne.1_Missense_Mutation_p.H74Y NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 74 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CCCTTGGTGTGAGACTGCACC 0.488 NaN 0 0 0 0.008871 0 18 46 CCDC18 343099 broad.mit.edu 37 1 93646363 93646363 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:93646363C>T uc001dpq.2 + 1 444 c.276C>T c.(274-276)GTC>GTT p.V92V TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 Error:Variant_position_missing_in_Q5T9S5_after_alignment ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GGGAAAGGGTCAGAGGCTTCC 0.672 NaN 0 0 0 0.001855 0 12 52 CCDC76 54482 broad.mit.edu 37 1 100598732 100598732 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:100598732C>G uc001dsv.2 + 1 27 c.8C>G c.(7-9)ACC>AGC p.T3S SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.T3S NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 3 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) ATTATGGCGACCTCCGCGACG 0.552 NaN 0 0 0 0.003954 0 20 30 SLC25A24 29957 broad.mit.edu 37 1 108742614 108742614 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:108742614C>T uc001dvn.3 - 1 361 c.147G>A c.(145-147)AGG>AGA p.R49R NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 49 EF-hand 1.|Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TGCCCAGGTTCCTGAGCCCCT 0.721 NaN 0 0 0 0.008291 0 8 25 AKNAD1 254268 broad.mit.edu 37 1 109380186 109380186 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:109380186A>T uc001dwa.2 - 7 1791 c.1522T>A c.(1522-1524)TCA>ACA p.S508T AKNAD1_uc010ovb.1_Missense_Mutation_p.S215T|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 508 ovary(3) 3 TTTGAGAGTGAAGAGAAGGTG 0.393 NaN 0 0 0 0.000602 0 4 62 HBXIP 10542 broad.mit.edu 37 1 110950397 110950397 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:110950397G>A uc001dzr.2 - 1 150 c.92C>T c.(91-93)TCC>TTC p.S31F NM_006402 NP_006393 O43504 HBXIP_HUMAN hepatitis B virus x-interacting protein Error:Variant_position_missing_in_O43504_after_alignment anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication cytosol protein binding large_intestine(1)|ovary(1)|pancreas(1) 3 all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134) TTCTTTACTGGAAAACATCAC 0.622 NaN 0 0 0 0.008291 0 11 26 WDR77 79084 broad.mit.edu 37 1 111989760 111989760 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:111989760C>T uc001ebb.2 - 4 489 c.450G>A c.(448-450)AAG>AAA p.K150K WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 150 WD 2. ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GGTCCCAAACCTTGATGCTAA 0.398 NaN 0 0 0 0.00874 0 39 43 C1orf183 55924 broad.mit.edu 37 1 112281828 112281828 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:112281828G>A uc001ebo.1 - 1 195 c.37C>T c.(37-39)CGT>TGT p.R13C C1orf183_uc001ebp.1_Intron|uc001ebq.1_5'Flank NM_019099 NP_061972 Q9NTI7 CA183_HUMAN hypothetical protein LOC55924 isoform 1 13 ovary(2) 2 all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05) Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113) TTGAGGCGACGGAGATAGCAG 0.672 NaN 0 0 0 0.008291 0 10 21 LRIG2 9860 broad.mit.edu 37 1 113638961 113638961 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:113638961T>C uc001edf.1 + 8 1263 c.1065T>C c.(1063-1065)TTT>TTC p.F355F LRIG2_uc009wgn.1_Silent_p.F252F NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 355 LRR 12.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) ATGGTGTATTTAGATTTCTTT 0.353 NaN 0 0 0 0.003755 0 32 51 NHLH2 4808 broad.mit.edu 37 1 116380930 116380930 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:116380930C>G uc009wgz.2 - 2 569 c.64G>C c.(64-66)GAG>CAG p.E22Q NHLH2_uc001efy.2_Missense_Mutation_p.E22Q NM_001111061 NP_001104531 Q02577 HEN2_HUMAN nescient helix loop helix 2 22 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CCCAGGGACTCCGGATCCGAG 0.657 NaN 0 0 0 0.009096 0 4 11 CD101 9398 broad.mit.edu 37 1 117556087 117556087 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:117556087G>A uc010oxb.1 + 4 959 c.901G>A c.(901-903)GAA>AAA p.E301K CD101_uc009whd.2_Missense_Mutation_p.E301K|CD101_uc010oxc.1_Missense_Mutation_p.E301K|CD101_uc010oxd.1_Missense_Mutation_p.E239K NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 301 Ig-like C2-type 3.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GAAACCCTTAGAACTGGTTTG 0.463 NaN 0 0 0 0.003163 0 15 94 TTF2 8458 broad.mit.edu 37 1 117629135 117629135 + Silent SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:117629135C>G uc001egy.2 + 12 2171 c.2151C>G c.(2149-2151)CTC>CTG p.L717L NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 717 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|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 ovary(1) 1 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) GTGCAAACCTCAATGTGGAGG 0.537 NaN 0 0 0 0.004482 0 8 13 SF3B4 10262 broad.mit.edu 37 1 149897916 149897916 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:149897916G>A uc001etj.1 - 4 776 c.725C>T c.(724-726)TCC>TTC p.S242F SF3B4_uc001eti.1_Missense_Mutation_p.S6F|SF3B4_uc001etk.1_Missense_Mutation_p.S242F|SF3B4_uc009wll.1_Missense_Mutation_p.S242F NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 242 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGGTGGGAAGGAGCCAGGAGG 0.582 NaN 0 0 0 0.00499 0 15 24 FAM63A 55793 broad.mit.edu 37 1 150972380 150972380 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:150972380T>C uc001ewf.2 - 7 2480 c.796A>G c.(796-798)ATC>GTC p.I266V FAM63A_uc001ewc.2_Missense_Mutation_p.I124V|FAM63A_uc010pcm.1_Missense_Mutation_p.I171V|FAM63A_uc001ewd.2_Missense_Mutation_p.I124V|FAM63A_uc001ewe.2_Missense_Mutation_p.I100V|FAM63A_uc010pcn.1_Missense_Mutation_p.I314V|FAM63A_uc001ewg.2_Missense_Mutation_p.I266V NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 266 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTGCAGGTGATGATCCTCTCC 0.488 NaN 0 0 0 0.010504 0 20 59 TDRD10 126668 broad.mit.edu 37 1 154493838 154493838 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:154493838A>G uc009wow.2 + 6 1090 c.252A>G c.(250-252)ACA>ACG p.T84T TDRD10_uc001ffd.2_Silent_p.T84T|TDRD10_uc001ffe.2_Silent_p.T5T NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 84 RRM. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGAAAGTGACACTTGCAATCC 0.498 NaN 0 0 0 0.01441 0 48 127 FLAD1 80308 broad.mit.edu 37 1 154962650 154962650 + Silent SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:154962650T>A uc001fgf.1 + 4 1635 c.1281T>A c.(1279-1281)GTT>GTA p.V427V FLAD1_uc001fgd.1_Silent_p.V427V|FLAD1_uc001fge.1_Silent_p.V330V|FLAD1_uc001fgg.1_Silent_p.V330V|FLAD1_uc001fgh.1_Missense_Mutation_p.F111Y NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 427 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TACCTGATGTTCCAAACCCCC 0.468 NaN 0 0 0 0.01441 0 106 209 KIRREL 55243 broad.mit.edu 37 1 158064160 158064161 + Missense_Mutation DNP CG CG AA rs148421111 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:158064160_158064161CG>AA uc001frn.3 + 14 2181_2182 c.1777_1778CG>AA c.(1777-1779)CGG>AAG p.R593K KIRREL_uc010pib.1_Missense_Mutation_p.R493K|KIRREL_uc009wsq.2_Missense_Mutation_p.R429K|KIRREL_uc001fro.3_Missense_Mutation_p.R407K|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 593 Cytoplasmic (Potential). DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CATCGACACCCGGGAGGAGTAT 0.614 NaN 0 0 0 0.004672 0 4 19 OR10K1 391109 broad.mit.edu 37 1 158435526 158435526 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:158435526A>T uc010pij.1 + 1 175 c.175A>T c.(175-177)ATG>TTG p.M59L NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCATACTCCCATGTACTTCTT 0.473 NaN 0 0 0 0.013114 0 43 131 FCRLB 127943 broad.mit.edu 37 1 161696644 161696644 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:161696644G>A uc001gbh.2 + 7 960 c.726G>A c.(724-726)GCG>GCA p.A242A FCRLB_uc009wus.2_Silent_p.A242A|FCRLB_uc001gbj.2_Missense_Mutation_p.R194Q|FCRLB_uc001gbk.2_Missense_Mutation_p.G208S|FCRLB_uc001gbl.2_Missense_Mutation_p.R187Q|FCRLB_uc001gbm.2_Missense_Mutation_p.G201S|FCRLB_uc001gbi.2_Silent_p.A242A|FCRLB_uc001gbn.3_Missense_Mutation_p.G245S NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 242 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ACAGCCGCGCGGTGCGCCGCT 0.706 NaN 0 0 0 0.000602 0 4 5 ILDR2 387597 broad.mit.edu 37 1 166926077 166926077 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:166926077T>G uc001gdx.1 - 3 448 c.392A>C c.(391-393)CAA>CCA p.Q131P NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 131 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(1) 1 CTTTCCAATTTGAAGATCTGC 0.403 NaN 0 0 0 0.004482 0 8 44 DNM3 26052 broad.mit.edu 37 1 172357752 172357752 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:172357752A>G uc001gie.2 + 20 2501 c.2325A>G c.(2323-2325)ACA>ACG p.T775T DNM3_uc001gif.2_Silent_p.T771T|DNM3_uc001gih.1_Silent_p.T131T NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 781 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GGAGGCCAACACTAAGTGCTC 0.562 NaN 0 0 0 0.00499 0 15 45 TDRD5 163589 broad.mit.edu 37 1 179621324 179621324 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:179621324C>T uc001gnf.1 + 13 2402 c.2152C>T c.(2152-2154)CGT>TGT p.R718C TDRD5_uc010pnp.1_Missense_Mutation_p.R718C|TDRD5_uc001gnh.1_Missense_Mutation_p.R273C NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 718 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 GAGTGAGTTACGTATCTTGGT 0.289 NaN 0 0 0 0.013537 0 12 25 RNF2 6045 broad.mit.edu 37 1 185056735 185056735 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:185056735G>A uc001grc.1 + 2 283 c.50G>A c.(49-51)TGG>TAG p.W17* RNF2_uc001grd.1_Nonsense_Mutation_p.W17* NM_007212 NP_009143 Q99496 RING2_HUMAN ring finger protein 2 17 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(1) 1 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) AGCAAAACATGGGAACTCAGT 0.388 NaN 0 0 0 0.010818 0 26 66 IVNS1ABP 10625 broad.mit.edu 37 1 185276256 185276256 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:185276256C>T uc001grl.2 - 7 1170 c.547G>A c.(547-549)GAA>AAA p.E183K IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 183 Sufficient for AHR interaction and signaling.|BACK. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ACATTATCTTCAAGCATTACC 0.413 NaN 0 0 0 0.00245 0 14 29 HMCN1 83872 broad.mit.edu 37 1 185704134 185704134 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:185704134A>G uc001grq.1 + 1 452 c.223A>G c.(223-225)AAA>GAA p.K75E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 75 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAAAGACCTAAAAGACCTCT 0.368 NaN 0 0 0 0.00632 0 26 44 KCNT2 343450 broad.mit.edu 37 1 196342326 196342326 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:196342326A>G uc001gtd.1 - 14 1407 c.1347T>C c.(1345-1347)TGT>TGC p.C449C KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.C449C|KCNT2_uc001gtf.1_Silent_p.C449C|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.C449C|KCNT2_uc009wyv.1_Silent_p.C424C NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 449 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CTGGGCATATACAGTTTAAAG 0.294 NaN 0 0 0 0.003954 0 22 45 ASPM 259266 broad.mit.edu 37 1 197111797 197111797 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:197111797C>G uc001gtu.2 - 3 1842 c.1585G>C c.(1585-1587)GAA>CAA p.E529Q ASPM_uc001gtv.2_Missense_Mutation_p.E529Q|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 529 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATTACTTTTTCATGTTCACCC 0.313 NaN 0 0 0 0.009535 0 31 95 NR5A2 2494 broad.mit.edu 37 1 200014630 200014630 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:200014630C>T uc001gvb.2 + 4 587 c.381C>T c.(379-381)AAC>AAT p.N127N NR5A2_uc001gvc.2_Silent_p.N81N|NR5A2_uc009wzh.2_Silent_p.N87N|NR5A2_uc010pph.1_Silent_p.N55N NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 127 Nuclear receptor.|NR C4-type. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) AAAACCAGAACTGCCAAATTG 0.328 NaN 0 0 0 0.001855 0 14 29 PPP1R15B 84919 broad.mit.edu 37 1 204379892 204379892 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:204379892G>A uc001hav.3 - 1 1053 c.648C>T c.(646-648)TTC>TTT p.F216F NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 216 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) ATACCACACTGAAATTGTCTA 0.498 NaN 0 0 0 0.00874 0 42 93 DSTYK 25778 broad.mit.edu 37 1 205180623 205180623 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:205180623G>A uc001hbw.2 - 1 105 c.41C>T c.(40-42)TCG>TTG p.S14L DSTYK_uc001hbx.2_Missense_Mutation_p.S14L NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 14 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 GCCGGGACCCGAGACGGGCTC 0.756 NaN 0 0 0 0.009096 0 4 5 SLC45A3 85414 broad.mit.edu 37 1 205633626 205633626 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:205633626C>T uc001hda.1 - 2 498 c.159G>A c.(157-159)ATG>ATA p.M53I SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'Flank|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 53 Helical; Name=2; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GCACCATGGTCATGAACTTCT 0.572 NaN T ETV1|ETV5|ELK4|ERG prostate 0 0 0 0.01441 0 71 166 PLXNA2 5362 broad.mit.edu 37 1 208390236 208390236 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:208390236C>T uc001hgz.2 - 2 1790 c.1032G>A c.(1030-1032)AAG>AAA p.K344K PLXNA2_uc001hha.3_Silent_p.K398K NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 344 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGTGATACTGCTTCTGCCCTT 0.592 NaN 0 0 0 0.008871 0 20 30 RPS6KC1 26750 broad.mit.edu 37 1 213415584 213415584 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:213415584G>A uc010ptr.1 + 11 2924 c.2765G>A c.(2764-2766)AGA>AAA p.R922K RPS6KC1_uc001hkd.2_Missense_Mutation_p.R910K|RPS6KC1_uc010pts.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R710K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R741K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.R457K|RPS6KC1_uc001hke.2_Missense_Mutation_p.R741K NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 922 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GCTTTACATAGAGAGGGAATT 0.418 NaN 0 0 0 0.00623 0 35 69 USH2A 7399 broad.mit.edu 37 1 216591900 216591900 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:216591900G>A uc001hku.1 - 3 994 c.607C>T c.(607-609)CTG>TTG p.L203L USH2A_uc001hkv.2_Silent_p.L203L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 203 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTCTCCCCAGTGTCATTACT 0.338 NaN HNSCC(13;0.011) 0 0 0 0.004656 0 24 66 TP53BP2 7159 broad.mit.edu 37 1 223986194 223986194 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:223986194C>T uc010pvb.1 - 12 1963 c.1671G>A c.(1669-1671)CCG>CCA p.P557P TP53BP2_uc001hod.2_Silent_p.P428P|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Silent_p.P196P NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 551 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) GCAGCACTCTCGGCTGCTGCC 0.542 NaN 0 0 0 0.01441 0 47 116 ACBD3 64746 broad.mit.edu 37 1 226340098 226340098 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:226340098G>A uc001hpy.2 - 7 1360 c.1313C>T c.(1312-1314)TCT>TTT p.S438F NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 438 GOLD. 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) AGTGTTTGGAGAGTCTGTCCA 0.478 NaN 0 0 0 0.01441 0 67 110 OBSCN 84033 broad.mit.edu 37 1 228467915 228467915 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:228467915G>A uc009xez.1 + 29 7743 c.7699G>A c.(7699-7701)GCA>ACA p.A2567T OBSCN_uc001hsn.2_Missense_Mutation_p.A2567T|OBSCN_uc001hsp.1_Missense_Mutation_p.A266T|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2567 Ig-like 25. 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) GCTACAGGATGCAGAGGCCAC 0.632 NaN 0 0 0 0.013537 0 11 60 NUP133 55746 broad.mit.edu 37 1 229625722 229625722 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:229625722G>A uc001htn.2 - 9 1266 c.1174C>T c.(1174-1176)CAA>TAA p.Q392* NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 392 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GGATTATATTGAGTGACTTCT 0.318 NaN 0 0 0 0.010504 0 16 23 AGT 183 broad.mit.edu 37 1 230839024 230839024 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:230839024C>T uc001hty.3 - 5 1829 c.1321G>A c.(1321-1323)GAG>AAG p.E441K AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Missense_Mutation_p.E413K NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 441 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) TGGGTAGACTCTGTGGGCTCT 0.527 NaN 0 0 0 0.013726 0 32 71 TTC13 79573 broad.mit.edu 37 1 231048454 231048454 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:231048454G>A uc001huf.3 - 19 2175 c.2144C>T c.(2143-2145)ACA>ATA p.T715I TTC13_uc009xfi.2_Missense_Mutation_p.T662I|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.T661I|TTC13_uc009xfk.1_Missense_Mutation_p.T604I NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 715 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATATAATTGTGTCCTTTCTTC 0.318 NaN 0 0 0 0.008871 0 19 125 TTC13 79573 broad.mit.edu 37 1 231069546 231069546 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:231069546T>G uc001huf.3 - 9 993 c.962A>C c.(961-963)AAA>ACA p.K321T TTC13_uc009xfi.2_Missense_Mutation_p.K268T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.K268T|TTC13_uc009xfk.1_Missense_Mutation_p.K211T NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 321 TPR 5. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CCCTAGACTTTTATATGCATC 0.343 NaN 0 0 0 0.013726 0 27 72 SIPA1L2 57568 broad.mit.edu 37 1 232551310 232551310 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:232551310C>T uc001hvg.2 - 17 4850 c.4692G>A c.(4690-4692)CTG>CTA p.L1564L SIPA1L2_uc001hvf.2_Silent_p.L638L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1564 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGAGGGGCATCAGGCCAGGAT 0.537 NaN 0 0 0 0.01441 0 41 92 ARID4B 51742 broad.mit.edu 37 1 235338568 235338568 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:235338568C>T uc001hwq.2 - 22 4093 c.3595G>A c.(3595-3597)GAT>AAT p.D1199N ARID4B_uc001hwr.2_Missense_Mutation_p.D1113N|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1199 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GGATCCTTATCACCATTCTTT 0.408 NaN 0 0 0 0.005443 0 27 64 ARID4B 51742 broad.mit.edu 37 1 235338665 235338665 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:235338665C>G uc001hwq.2 - 22 3996 c.3498G>C c.(3496-3498)AAG>AAC p.K1166N ARID4B_uc001hwr.2_Missense_Mutation_p.K1080N|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1166 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTGGCTGACTCTTAGTTATAC 0.358 NaN 0 0 0 0.005443 0 26 57 OR2M3 127062 broad.mit.edu 37 1 248367166 248367166 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:248367166G>T uc010pzg.1 + 1 797 c.797G>T c.(796-798)CGC>CTC p.R266L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACATCTGATCGCTCCCCAACA 0.502 NaN 1 0 3.74213e-36 0.01441 4.06774e-36 58 110 DIP2C 22982 broad.mit.edu 37 10 486827 486827 + Silent SNP G G A rs139321678 byFrequency TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:486827G>A uc001ifp.2 - 4 468 c.378C>T c.(376-378)GAC>GAT p.D126D DIP2C_uc009xhk.1_Missense_Mutation_p.T128M NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 126 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGGTGTAGGCGTCCATCGAGG 0.607 NaN 0 0 0 0.006122 0 15 45 IDI2 91734 broad.mit.edu 37 10 1066834 1066834 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:1066834T>C uc001ifv.1 - 4 304 c.239A>G c.(238-240)TAT>TGT p.Y80C C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 80 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) GTCGGTAAAATACCCTGGAAA 0.443 NaN 0 0 0 0.008871 0 16 27 FRMD4A 55691 broad.mit.edu 37 10 13782239 13782239 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:13782239G>A uc001ims.2 - 11 979 c.627C>T c.(625-627)ATC>ATT p.I209I FRMD4A_uc009xjf.1_Silent_p.I209I|FRMD4A_uc001imt.1_Silent_p.I242I|FRMD4A_uc001imu.1_Silent_p.I225I NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 209 FERM. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GAGACTCCACGATGCTCATGT 0.423 NaN 0 0 0 0.00499 0 17 56 PLXDC2 84898 broad.mit.edu 37 10 20453444 20453444 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:20453444A>T uc001iqg.1 + 7 1468 c.831A>T c.(829-831)AAA>AAT p.K277N PLXDC2_uc001iqh.1_Missense_Mutation_p.K228N|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 277 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 ATCCAGTGAAAGTCGGACTGT 0.443 NaN 0 0 0 0.009096 0 4 43 ABI1 10006 broad.mit.edu 37 10 27149698 27149698 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:27149698T>C uc001isx.2 - 1 262 c.95A>G c.(94-96)TAC>TGC p.Y32C ABI1_uc001ite.2_Missense_Mutation_p.Y32C|ABI1_uc010qdh.1_Missense_Mutation_p.Y32C|ABI1_uc010qdi.1_Missense_Mutation_p.Y32C|ABI1_uc001isy.2_Missense_Mutation_p.Y32C|ABI1_uc001ita.2_Missense_Mutation_p.Y32C|ABI1_uc001isz.2_Missense_Mutation_p.Y32C|ABI1_uc001itb.2_Missense_Mutation_p.Y32C|ABI1_uc001itc.2_Missense_Mutation_p.Y32C|ABI1_uc010qdj.1_Missense_Mutation_p.Y32C|ABI1_uc001itd.2_Missense_Mutation_p.Y32C|ABI1_uc010qdk.1_Missense_Mutation_p.Y32C NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 32 Required for binding to WASF1 (By similarity). actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 GTTTTCACAGTAGTCTGCCAC 0.627 NaN 0 0 0 0.003954 0 24 62 RAB18 22931 broad.mit.edu 37 10 27793340 27793340 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:27793340C>T uc001itv.2 + 1 92 c.42C>T c.(40-42)ATC>ATT p.I14I RAB18_uc001itw.2_Silent_p.I14I|RAB18_uc010qdq.1_Silent_p.I14I|RAB18_uc010qdr.1_Silent_p.I14I NM_021252 NP_067075 Q9NP72 RAB18_HUMAN RAB18, member RAS oncogene family 14 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding 0 TCCTCATCATCGGCGAGAGTG 0.682 NaN 0 0 0 0.00308 0 5 10 RBP3 5949 broad.mit.edu 37 10 48389779 48389779 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:48389779C>T uc001jez.2 - 1 1213 c.1099G>A c.(1099-1101)GAT>AAT p.D367N NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 367 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GTGACCAGATCTTCCTCGGAG 0.632 NaN 0 0 0 0.001855 0 14 33 RBP3 5949 broad.mit.edu 37 10 48389782 48389782 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:48389782C>T uc001jez.2 - 1 1210 c.1096G>A c.(1096-1098)GAA>AAA p.E366K NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 366 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) ACCAGATCTTCCTCGGAGACC 0.627 NaN 0 0 0 0.00245 0 15 31 RHOBTB1 9886 broad.mit.edu 37 10 62631954 62631954 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:62631954G>A uc001jli.2 - 11 2348 c.1910C>T c.(1909-1911)TCA>TTA p.S637L RHOBTB1_uc001jlh.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlj.2_Missense_Mutation_p.S637L|RHOBTB1_uc001jlk.2_Missense_Mutation_p.S637L|RHOBTB1_uc009xpe.1_Missense_Mutation_p.S575L|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.S387L NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 637 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TGCAGATTTTGATTTGATTTC 0.493 NaN 0 0 0 0.014323 0 23 72 VPS26A 9559 broad.mit.edu 37 10 70930917 70930917 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:70930917A>G uc001jpb.2 + 9 1002 c.876A>G c.(874-876)ATA>ATG p.I292M VPS26A_uc001jpc.2_Missense_Mutation_p.N245D|VPS26A_uc009xqa.2_Missense_Mutation_p.I285M|VPS26A_uc001jpd.2_Missense_Mutation_p.I181M NM_004896 NP_004887 O75436 VP26A_HUMAN vacuolar protein sorting 26 A isoform 1 292 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity 0 ACTAGGAGATAATTTTATGGA 0.338 NaN 0 0 0 0.014323 0 23 64 SUPV3L1 6832 broad.mit.edu 37 10 70940254 70940254 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:70940254G>A uc001jpe.1 + 1 262 c.207G>A c.(205-207)GTG>GTA p.V69V SUPV3L1_uc010qjd.1_5'UTR NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 69 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 CCCTGACTGTGAAACCTCAGG 0.647 NaN 0 0 0 0.00278 0 21 95 SUPV3L1 6832 broad.mit.edu 37 10 70967593 70967593 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:70967593G>T uc001jpe.1 + 14 1876 c.1821G>T c.(1819-1821)TGG>TGT p.W607C SUPV3L1_uc010qjd.1_Missense_Mutation_p.W476C NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 607 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 CCTTTGCATGGTTACGCCGAT 0.443 NaN 1 0 0.00829132 0.008291 0.00853897 9 40 FUT11 170384 broad.mit.edu 37 10 75533107 75533107 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:75533107A>T uc001jva.2 + 2 911 c.868A>T c.(868-870)ACA>TCA p.T290S FUT11_uc001juy.1_Nonstop_Mutation_p.*288C|FUT11_uc001juz.1_Missense_Mutation_p.T290S NM_173540 NP_775811 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) 290 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 Prostate(51;0.0112) CGACTACATGACAGAAAAACT 0.567 NaN 0 0 0 0.004656 0 25 48 KIAA0913 23053 broad.mit.edu 37 10 75556602 75556602 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:75556602C>T uc009xrl.2 + 16 3121 c.3089C>T c.(3088-3090)TCT>TTT p.S1030F KIAA0913_uc001jve.2_Missense_Mutation_p.S1035F|KIAA0913_uc001jvf.2_Missense_Mutation_p.S1030F|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S465F|KIAA0913_uc010qkr.1_Missense_Mutation_p.S453F|KIAA0913_uc001jvj.2_Missense_Mutation_p.S453F|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1030 zinc ion binding breast(1) 1 Prostate(51;0.0112) TTCTACTCATCTAGCCGCCCA 0.577 NaN 0 0 0 0.00245 0 14 72 TNKS2 80351 broad.mit.edu 37 10 93605573 93605573 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:93605573C>G uc001khp.2 + 18 2531 c.2234C>G c.(2233-2235)GCT>GGT p.A745G NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 745 ANK 15. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) GACAAATGGGCTTTCACACCT 0.433 NaN 0 0 0 0.001168 0 6 46 BTAF1 9044 broad.mit.edu 37 10 93768614 93768614 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:93768614A>G uc001khr.2 + 27 3940 c.3842A>G c.(3841-3843)AAT>AGT p.N1281S NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1281 Helicase ATP-binding. 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) GCATTTCTTAATAAGTATAAA 0.294 NaN 0 0 0 0.001855 0 9 42 EXOC6 54536 broad.mit.edu 37 10 94757304 94757304 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:94757304A>G uc001kig.2 + 19 2093 c.2027A>G c.(2026-2028)GAC>GGC p.D676G EXOC6_uc010qnr.1_Missense_Mutation_p.D692G|EXOC6_uc001kie.2_Missense_Mutation_p.D671G|EXOC6_uc009xub.2_Missense_Mutation_p.D675G|EXOC6_uc009xuc.2_Missense_Mutation_p.D573G|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.D250G NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 676 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) ATGCTACTGGACAGTGAGTTA 0.353 NaN 0 0 0 0.001984 0 7 41 MYOF 26509 broad.mit.edu 37 10 95113570 95113570 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:95113570G>A uc001kin.2 - 32 3602 c.3479C>T c.(3478-3480)TCA>TTA p.S1160L MYOF_uc001kio.2_Missense_Mutation_p.S1147L|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1160 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 TCCTTTACCTGAAAAGCTATC 0.353 NaN 0 0 0 0.005443 0 24 77 DNTT 1791 broad.mit.edu 37 10 98079103 98079103 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:98079103T>C uc001kmf.2 + 3 633 c.463T>C c.(463-465)TGT>CGT p.C155R DNTT_uc001kmg.2_Missense_Mutation_p.C155R NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 155 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CCAGTATGCGTGTCAGAGAAG 0.458 NaN 0 0 0 0.003271 0 31 120 SEC31B 25956 broad.mit.edu 37 10 102256971 102256971 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:102256971T>C uc001krc.1 - 17 2159 c.2057A>G c.(2056-2058)TAT>TGT p.Y686C SEC31B_uc010qpo.1_Missense_Mutation_p.Y685C|SEC31B_uc001krd.1_Missense_Mutation_p.Y223C|SEC31B_uc001krf.1_Missense_Mutation_p.Y223C|SEC31B_uc001kre.1_Missense_Mutation_p.Y223C|SEC31B_uc001krg.1_Missense_Mutation_p.Y255C NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 686 WD 7. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TGAGCACACATAACAGAGTCT 0.567 NaN 0 0 0 0.007413 0 14 53 LDB1 8861 broad.mit.edu 37 10 103868023 103868023 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:103868023C>T uc009xwz.2 - 11 1406 c.1063G>A c.(1063-1065)GAG>AAG p.E355K LDB1_uc001kuk.3_Missense_Mutation_p.E319K NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 355 LIM-binding domain (LID) (By similarity). histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) ATGAGCCTCTCGTCCTCGTCC 0.622 NaN 0 0 0 0.001855 0 12 45 COL17A1 1308 broad.mit.edu 37 10 105802183 105802183 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:105802183T>C uc001kxr.2 - 36 2715 c.2546A>G c.(2545-2547)CAT>CGT p.H849R NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 849 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CATACCTTGATGTCCTGGGAG 0.537 NaN 0 0 0 0.006214 0 8 40 PDCD4 27250 broad.mit.edu 37 10 112641080 112641080 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:112641080A>G uc001kzh.2 + 3 376 c.133A>G c.(133-135)ATT>GTT p.I45V PDCD4_uc001kzg.2_Missense_Mutation_p.I34V|PDCD4_uc010qre.1_Missense_Mutation_p.I31V NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 45 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGGAAATTGGATTTCAGCATC 0.413 NaN 0 0 0 0.00278 0 23 88 SHOC2 8036 broad.mit.edu 37 10 112771502 112771502 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:112771502C>G uc001kzl.3 + 9 2024 c.1675C>G c.(1675-1677)CAG>GAG p.Q559E SHOC2_uc009xxx.2_Missense_Mutation_p.Q559E|SHOC2_uc010qrg.1_Missense_Mutation_p.Q198E|SHOC2_uc001kzn.2_Missense_Mutation_p.Q513E NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 559 LRR 20. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) CCTTCCACCTCAGATTGTTGC 0.488 NaN 0 0 0 0.005524 0 36 58 RAB11FIP2 22841 broad.mit.edu 37 10 119799820 119799820 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:119799820C>T uc001ldj.1 - 2 1050 c.610G>A c.(610-612)GAA>AAA p.E204K RAB11FIP2_uc009xyz.1_Missense_Mutation_p.E204K NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 204 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) ATCTGTATTTCACCACTTGAA 0.413 NaN 0 0 0 0.003271 0 35 52 EIF3A 8661 broad.mit.edu 37 10 120802040 120802040 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:120802040G>A uc001ldu.2 - 19 3138 c.2992C>T c.(2992-2994)CCC>TCC p.P998S EIF3A_uc010qsu.1_Missense_Mutation_p.P964S|EIF3A_uc009xzg.1_Missense_Mutation_p.P37S NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 998 Asp-rich.|8.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ATTCGTCTGGGAGGCCTGTCA 0.572 NaN 0 0 0 0.01441 0 61 94 SEC23IP 11196 broad.mit.edu 37 10 121652347 121652347 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:121652347C>T uc001leu.1 + 1 125 c.53C>T c.(52-54)TCG>TTG p.S18L SEC23IP_uc010qtc.1_5'UTR NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 18 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) ACTTCCTCATCGGGCACTAAC 0.627 NaN 0 0 0 0.00308 0 8 25 SEC23IP 11196 broad.mit.edu 37 10 121671610 121671610 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:121671610G>A uc001leu.1 + 6 1318 c.1246G>A c.(1246-1248)GAT>AAT p.D416N SEC23IP_uc010qtc.1_Missense_Mutation_p.D205N NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 416 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CACCACGCAAGATGGACAGAC 0.433 NaN 0 0 0 0.00874 0 42 63 FGFR2 2263 broad.mit.edu 37 10 123258016 123258016 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:123258016T>C uc010qtk.1 - 13 2312 c.1665A>G c.(1663-1665)ACA>ACG p.T555T FGFR2_uc010qtg.1_Silent_p.T443T|FGFR2_uc010qth.1_Silent_p.T440T|FGFR2_uc010qti.1_Silent_p.T466T|FGFR2_uc010qtj.1_Silent_p.T556T|FGFR2_uc010qtl.1_Silent_p.T439T|FGFR2_uc010qtm.1_Silent_p.T438T|FGFR2_uc001lfl.3_Silent_p.T556T|FGFR2_uc001lfm.2_Silent_p.T467T|FGFR2_uc001lfg.3_Silent_p.T163T NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 555 Cytoplasmic (Potential).|Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CACCATCCTGTGTGCAGGCTC 0.438 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.000602 0 5 43 TACC2 10579 broad.mit.edu 37 10 123845111 123845111 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:123845111G>A uc001lfv.2 + 4 3456 c.3096G>A c.(3094-3096)AAG>AAA p.K1032K TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.K1032K|TACC2_uc010qtv.1_Silent_p.K1032K NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1032 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTTGAGTAAGAGGGAGATGG 0.582 NaN 0 0 0 0.001984 0 7 47 FAM53B 9679 broad.mit.edu 37 10 126370704 126370704 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:126370704G>A uc001lhv.1 - 4 901 c.378C>T c.(376-378)TGC>TGT p.C126C FAM53B_uc001lhu.1_Silent_p.C126C|FAM53B_uc001lhw.2_Silent_p.C126C NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 126 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) ATGATGTCCGGCAACTGGACA 0.602 NaN 0 0 0 0.004672 0 3 17 JAKMIP3 282973 broad.mit.edu 37 10 133949530 133949530 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:133949530C>T uc001lkx.3 + 5 1066 c.1066C>T c.(1066-1068)CGC>TGC p.R356C NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCATGCTTTACGCCGAATGGA 0.527 NaN 0 0 0 0.003163 0 15 16 ATHL1 80162 broad.mit.edu 37 11 294604 294604 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:294604C>T uc010qvu.1 + 14 2184 c.2069C>T c.(2068-2070)CCC>CTC p.P690L ATHL1_uc001lor.3_Missense_Mutation_p.P442L|ATHL1_uc001lou.3_Missense_Mutation_p.P265L|ATHL1_uc001lov.3_Missense_Mutation_p.P151L NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 690 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CAAATGTCACCCCCGAAGCTG 0.642 NaN 0 0 0 0.003954 0 27 124 HRAS 3265 broad.mit.edu 37 11 534226 534226 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:534226C>T uc001lpv.2 - 2 285 c.97G>A c.(97-99)GAC>AAC p.D33N HRAS_uc010qvw.1_Missense_Mutation_p.D33N|HRAS_uc010qvx.1_Missense_Mutation_p.D33N|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 33 Effector region. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) ATAGTGGGGTCGTATTCGTCC 0.637 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 0 0 0 0.013537 0 13 25 TMEM80 283232 broad.mit.edu 37 11 703012 703012 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:703012C>T uc001lqr.2 + 5 506 c.369C>T c.(367-369)ACC>ACT p.T123T TMEM80_uc001lqs.2_Silent_p.T115T|TMEM80_uc010qwi.1_Silent_p.T123T NM_001042463 NP_001035928 Q96HE8 TMM80_HUMAN transmembrane protein 80 isoform 2 123 integral to membrane 0 all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGCTGGCACCGCCCTCCTCT 0.692 NaN 0 0 0 0.013537 0 12 46 TALDO1 6888 broad.mit.edu 37 11 763392 763392 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:763392C>T uc001lqz.2 + 5 560 c.510C>T c.(508-510)TTC>TTT p.F170F TALDO1_uc001lra.2_Silent_p.F170F NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 170 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 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;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) CGTTACTCTTCTCCTTCGCCC 0.453 NaN 0 0 0 0.012213 0 31 55 DUSP8 1850 broad.mit.edu 37 11 1586951 1586951 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:1586951C>T uc001lts.2 - 2 234 c.106G>A c.(106-108)GTG>ATG p.V36M NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 36 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) TTGTACTCCACGAAGGAGCGG 0.657 NaN 0 0 0 0.004007 0 15 102 MRGPRE 116534 broad.mit.edu 37 11 3249906 3249906 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:3249906T>C uc001lxq.3 - 2 431 c.121A>G c.(121-123)AAT>GAT p.N41D NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 41 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGCCCCATTCCCCAGCAGC 0.642 NaN 0 0 0 0.008361 0 28 46 DENND5A 23258 broad.mit.edu 37 11 9161320 9161320 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:9161320G>A uc001mhl.2 - 23 4017 c.3762C>T c.(3760-3762)ATC>ATT p.I1254I DENND5A_uc001mhk.2_Silent_p.I597I|DENND5A_uc010rbw.1_3'UTR NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 1254 RUN 2. liver(1) 1 TATGGTCTTTGATCAGTGCCA 0.527 NaN 0 0 0 0.004482 0 9 25 ADM 133 broad.mit.edu 37 11 10327902 10327902 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:10327902G>A uc001mik.1 + 3 889 c.272G>A c.(271-273)CGA>CAA p.R91Q ADM_uc001mil.1_Missense_Mutation_p.R91Q|ADM_uc001mim.1_Missense_Mutation_p.R44Q NM_001124 NP_001115 P35318 ADML_HUMAN adrenomedullin precursor 91 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1) 1 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) GCCCGCATCCGAGTCAAGCGC 0.647 NaN 0 0 0 0.012319 0 20 23 USP47 55031 broad.mit.edu 37 11 11971470 11971470 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:11971470A>G uc001mjs.2 + 23 4146 c.3383A>G c.(3382-3384)AAA>AGA p.K1128R USP47_uc001mjr.2_Missense_Mutation_p.K1060R|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1148 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) GTGTTTGCTAAAGGAATGACT 0.343 NaN 0 0 0 0.010729 0 11 29 PDE3B 5140 broad.mit.edu 37 11 14666332 14666332 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:14666332C>T uc001mln.2 + 1 1064 c.711C>T c.(709-711)CTC>CTT p.L237L PDE3B_uc001mlm.2_Silent_p.L237L|PDE3B_uc010rcr.1_Silent_p.L237L|PSMA1_uc001mll.2_5'Flank NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 237 Helical; (Potential). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TCACCAGCCTCGGGTCGCTGC 0.692 NaN 0 0 0 0.00308 0 7 22 CYP2R1 120227 broad.mit.edu 37 11 14913753 14913753 + Splice_Site SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:14913753G>C uc001mlr.2 - 1 1 c.1_splice c.e1-1 p.M1_splice CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CTTCCACATCGGCCCGAGCTG 0.677 NaN 0 0 0 0.009096 0 3 16 CCDC34 91057 broad.mit.edu 37 11 27360567 27360567 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:27360567T>C uc001mrh.1 - 6 977 c.923A>G c.(922-924)AAT>AGT p.N308S NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 308 0 TGGATAGGAATTTCCACTGTA 0.338 NaN 0 0 0 0.00308 0 8 37 LGR4 55366 broad.mit.edu 37 11 27389570 27389570 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:27389570G>A uc001mrj.3 - 18 3185 c.2700C>T c.(2698-2700)GGC>GGT p.G900G LGR4_uc001mrk.3_Silent_p.G876G NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 900 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 CCGACTGTGTGCCACAGTCGG 0.512 NaN 0 0 0 0.014323 0 24 44 WT1 7490 broad.mit.edu 37 11 32410605 32410605 + Nonstop_Mutation SNP C C G rs148856160 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:32410605C>G uc001mtn.1 - 10 1749 c.1553G>C c.(1552-1554)TGA>TCA p.*518S WT1_uc001mtl.1_Nonstop_Mutation_p.*303S|WT1_uc001mtm.1_Nonstop_Mutation_p.*289S|WT1_uc001mto.1_Nonstop_Mutation_p.*515S|WT1_uc001mtp.1_Nonstop_Mutation_p.*501S|WT1_uc001mtq.1_Nonstop_Mutation_p.*498S|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 518 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GGAGACCCCTCAAAGCGCCAG 0.517 NaN D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 0 0 0 0.004656 0 25 30 HIPK3 10114 broad.mit.edu 37 11 33361046 33361046 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:33361046A>G uc001mul.1 + 6 1849 c.1579A>G c.(1579-1581)ATG>GTG p.M527V HIPK3_uc001mum.1_Missense_Mutation_p.M527V|HIPK3_uc009yjv.1_Missense_Mutation_p.M527V NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 527 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 TTTTGTTAATATGAAACATCT 0.323 NaN 0 0 0 0.004656 0 22 88 OR4C15 81309 broad.mit.edu 37 11 55322644 55322644 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:55322644A>G uc010rig.1 + 1 862 c.862A>G c.(862-864)AAA>GAA p.K288E NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGGGCGCTGGAAAGCTCTCTC 0.443 NaN HNSCC(20;0.049) 0 0 0 0.007291 0 25 104 OR8H1 219469 broad.mit.edu 37 11 56058202 56058202 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:56058202G>T uc010rje.1 - 1 337 c.337C>A c.(337-339)CTT>ATT p.L113I NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GATGAGAGAAGAAAACATTCA 0.438 NaN 1 0 2.12542e-12 0.00632 2.27309e-12 28 92 PRG2 5553 broad.mit.edu 37 11 57156559 57156559 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:57156559T>G uc001njz.2 - 2 317 c.290A>C c.(289-291)AAA>ACA p.K97T PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.K97T|PRG2_uc001nkb.2_Missense_Mutation_p.K97T|PRG2_uc001nkd.2_Missense_Mutation_p.K97T|PRG2_uc001nkc.2_Missense_Mutation_p.K97T|PRG2_uc001nke.2_Missense_Mutation_p.K377T NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 97 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) GCCCACCACTTTTACTGTGTC 0.527 NaN 0 0 0 0.010504 0 20 99 ZDHHC5 25921 broad.mit.edu 37 11 57467491 57467491 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:57467491G>A uc001nkx.1 + 12 3392 c.2136G>A c.(2134-2136)GAG>GAA p.E712E ZDHHC5_uc001nky.1_Silent_p.E659E|ZDHHC5_uc001nkz.1_Silent_p.E526E NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 712 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 CCACCTATGAGATTTCGGTGT 0.647 NaN 0 0 0 0.008291 0 11 10 ZFP91 80829 broad.mit.edu 37 11 58384270 58384270 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:58384270C>A uc001nmx.3 + 10 1352 c.1184C>A c.(1183-1185)ACT>AAT p.T395N ZFP91_uc001nmy.3_Missense_Mutation_p.T394N|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 395 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ATGATTCACACTGGCGAGAAG 0.423 NaN 1 0 0.000274275 0.004482 0.000284165 7 36 ZFP91 80829 broad.mit.edu 37 11 58384283 58384283 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:58384283A>G uc001nmx.3 + 10 1365 c.1197A>G c.(1195-1197)CCA>CCG p.P399P ZFP91_uc001nmy.3_Silent_p.P398P|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 399 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCGAGAAGCCATTACAGTGAG 0.438 NaN 0 0 0 0.006214 0 9 35 MS4A14 84689 broad.mit.edu 37 11 60184148 60184148 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:60184148G>A uc001npj.2 + 5 2272 c.1707G>A c.(1705-1707)CAG>CAA p.Q569Q MS4A14_uc001npi.2_Silent_p.Q457Q|MS4A14_uc001npn.2_Silent_p.Q307Q|MS4A14_uc001npk.2_Silent_p.Q552Q|MS4A14_uc001npl.2_Silent_p.Q307Q|MS4A14_uc001npm.2_Silent_p.Q307Q NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 569 Gln-rich. integral to membrane receptor activity breast(1) 1 CTGAAGATCAGCAAGCCAAAG 0.438 NaN 0 0 0 0.004007 0 17 8 DAK 26007 broad.mit.edu 37 11 61111381 61111381 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:61111381G>A uc001nre.2 + 12 1293 c.1036G>A c.(1036-1038)GGG>AGG p.G346R DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.G276R NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 346 glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 CTCCATTACTGGGCGGAAGCG 0.622 NaN 0 0 0 0.00245 0 15 83 SYT7 9066 broad.mit.edu 37 11 61318925 61318925 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:61318925T>C uc001nrv.2 - 3 152 c.146A>G c.(145-147)TAC>TGC p.Y49C SYT7_uc009ynr.2_Missense_Mutation_p.Y49C|SYT7_uc001nrx.1_RNA NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 49 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 GGAATTCTTGTAGCGTTTGCC 0.587 NaN 0 0 0 0.001855 0 12 63 DAGLA 747 broad.mit.edu 37 11 61511362 61511362 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:61511362G>A uc001nsa.2 + 20 2641 c.2530G>A c.(2530-2532)GAC>AAC p.D844N NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 844 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GCTGGCGGCCGACAGCCTGTC 0.667 NaN 0 0 0 0.01441 0 105 166 MARK2 2011 broad.mit.edu 37 11 63672397 63672397 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:63672397C>T uc001nxw.2 + 16 2395 c.1816C>T c.(1816-1818)CGG>TGG p.R606W MARK2_uc001nxx.2_Missense_Mutation_p.R552W|MARK2_uc001nxy.2_Missense_Mutation_p.R551W|MARK2_uc001nxv.3_Missense_Mutation_p.R551W|MARK2_uc001nxz.3_Missense_Mutation_p.R572W|MARK2_uc009yoy.2_Missense_Mutation_p.R526W NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 606 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CCGACAGGTGCGGGACCAGCA 0.647 NaN 0 0 0 0.001168 0 5 86 PLCB3 5331 broad.mit.edu 37 11 64023082 64023082 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:64023082C>T uc001nzb.2 + 7 591 c.591C>T c.(589-591)TTC>TTT p.F197F PLCB3_uc009ypg.1_Silent_p.F197F|PLCB3_uc009yph.1_Silent_p.F130F|PLCB3_uc009ypi.2_Silent_p.F197F NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 197 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GCCTCAAATTCAACCGGGTGT 0.642 NaN 0 0 0 0.010818 0 29 37 PRDX5 25824 broad.mit.edu 37 11 64085722 64085722 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:64085722C>T uc001nzu.2 + 1 154 c.35C>T c.(34-36)TCA>TTA p.S12L TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Missense_Mutation_p.S12L|PRDX5_uc001nzw.2_Missense_Mutation_p.S12L|PRDX5_uc001nzx.2_5'Flank NM_012094 NP_036226 P30044 PRDX5_HUMAN peroxiredoxin 5 isoform a precursor 12 cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1) 1 Auranofin(DB00995) CTGAGACGCTCAGCGGGCTAT 0.697 NaN 0 0 0 0.001984 0 6 39 ATG2A 23130 broad.mit.edu 37 11 64669497 64669497 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:64669497G>A uc001obx.2 - 29 4171 c.4056C>T c.(4054-4056)GGC>GGT p.G1352G ATG2A_uc001obw.2_Silent_p.G117G NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1352 protein binding ovary(1)|central_nervous_system(1) 2 TGTCTCCATCGCCCTCCTCTT 0.627 NaN 0 0 0 0.006214 0 8 95 DPP3 10072 broad.mit.edu 37 11 66272161 66272161 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:66272161G>A uc001oig.1 + 17 2019 c.1957G>A c.(1957-1959)GAG>AAG p.E653K DPP3_uc001oif.1_Missense_Mutation_p.E653K|DPP3_uc010rpe.1_Missense_Mutation_p.E642K|DPP3_uc001oih.1_Silent_p.P20P NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 653 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TGCGCCCCCCGAGTGCTTCCT 0.572 NaN 0 0 0 0.004656 0 28 73 PC 5091 broad.mit.edu 37 11 66617203 66617203 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:66617203G>A uc001ojn.1 - 19 3075 c.3026C>T c.(3025-3027)TCA>TTA p.S1009L PC_uc001ojo.1_Missense_Mutation_p.S1009L|PC_uc001ojp.1_Missense_Mutation_p.S1009L|PC_uc001ojm.1_5'UTR NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 1009 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CATAGCTGCTGAGAGCACATC 0.622 NaN 0 0 0 0.006214 0 9 43 RAD9A 5883 broad.mit.edu 37 11 67161232 67161232 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:67161232G>A uc001okr.2 + 5 513 c.420G>A c.(418-420)TCG>TCA p.S140S RAD9A_uc001oks.2_5'Flank NM_004584 NP_004575 Q99638 RAD9A_HUMAN RAD9 homolog 140 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) ACCCAGCCTCGTGCCCCCACA 0.652 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.000602 0 5 9 C2CD3 26005 broad.mit.edu 37 11 73849870 73849870 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:73849870G>A uc001ouu.2 - 5 1077 c.850C>T c.(850-852)CTG>TTG p.L284L C2CD3_uc001ouv.2_Silent_p.L284L NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 284 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GAACTGTTCAGAAGGGACATC 0.438 NaN 0 0 0 0.001984 0 7 43 C11orf82 220042 broad.mit.edu 37 11 82643785 82643785 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:82643785A>T uc001ozt.2 + 6 1649 c.1405A>T c.(1405-1407)ACT>TCT p.T469S C11orf82_uc010rsr.1_Missense_Mutation_p.T168S|C11orf82_uc010rss.1_Missense_Mutation_p.T168S|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 469 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 CCAGAGAACTACTGGAGCCCT 0.403 NaN 0 0 0 0.010504 0 19 25 AMOTL1 154810 broad.mit.edu 37 11 94554952 94554952 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:94554952C>T uc001pfb.2 + 4 1548 c.1378C>T c.(1378-1380)CAG>TAG p.Q460* AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q410* NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 460 Potential. LQ -> HE (in Ref. 2; AAH14126). cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCAGGAACTTCAGGGTTACTA 0.537 NaN 0 0 0 0.012213 0 27 33 EXPH5 23086 broad.mit.edu 37 11 108383163 108383163 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:108383163C>G uc001pkk.2 - 6 3182 c.3071G>C c.(3070-3072)AGA>ACA p.R1024T EXPH5_uc010rvy.1_Missense_Mutation_p.R836T|EXPH5_uc010rvz.1_Missense_Mutation_p.R868T|EXPH5_uc010rwa.1_Missense_Mutation_p.R948T NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1024 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 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) GCTTGATTTTCTTGGCAAGGT 0.398 NaN 0 0 0 0.014323 0 21 23 C11orf53 341032 broad.mit.edu 37 11 111154990 111154990 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:111154990G>A uc001plc.2 + 3 344 c.197G>A c.(196-198)GGA>GAA p.G66E NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 66 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GAGCCCTACGGAGACTACCGG 0.697 NaN 0 0 0 0.009718 0 44 28 SNX19 399979 broad.mit.edu 37 11 130773221 130773221 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:130773221T>C uc001qgk.3 - 8 3050 c.2502A>G c.(2500-2502)GAA>GAG p.E834E SNX19_uc009zcw.2_Silent_p.E71E|SNX19_uc010sce.1_Silent_p.E214E|SNX19_uc010scf.1_Silent_p.E277E|SNX19_uc010scg.1_Silent_p.E71E NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 834 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ATTTCCACTGTTCTGTTAGTA 0.453 NaN 0 0 0 0.00499 0 18 24 RAD52 5893 broad.mit.edu 37 12 1025884 1025884 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:1025884G>A uc001qis.1 - 8 760 c.646C>T c.(646-648)CAC>TAC p.H216Y RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.H139Y|RAD52_uc001qiu.1_Missense_Mutation_p.H216Y|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.H216Y NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 216 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) AGCTGTGGGTGTCCCAGGGCC 0.582 NaN Homologous_recombination 0 0 0 0.001855 0 13 42 CACNA2D4 93589 broad.mit.edu 37 12 2017134 2017134 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:2017134C>T uc001qjp.2 - 5 787 c.556G>A c.(556-558)GAG>AAG p.E186K CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E186K NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 186 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGGAGGAACTCGGCGCCCAGC 0.602 NaN 0 0 0 0.010504 0 20 42 CACNA1C 775 broad.mit.edu 37 12 2795357 2795357 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:2795357A>G uc009zdu.1 + 48 6268 c.5955A>G c.(5953-5955)GAA>GAG p.E1985E CACNA1C_uc009zdv.1_Silent_p.E1899E|CACNA1C_uc001qkb.2_Silent_p.E1902E|CACNA1C_uc001qkc.2_Silent_p.E1921E|CACNA1C_uc001qke.2_Silent_p.E1891E|CACNA1C_uc001qkf.2_Silent_p.E1910E|CACNA1C_uc001qjz.2_Silent_p.E1902E|CACNA1C_uc001qkd.2_Silent_p.E1921E|CACNA1C_uc001qkg.2_Silent_p.E1908E|CACNA1C_uc009zdw.1_Silent_p.E1943E|CACNA1C_uc001qkh.2_Silent_p.E1910E|CACNA1C_uc001qkl.2_Silent_p.E1950E|CACNA1C_uc001qkn.2_Silent_p.E1902E|CACNA1C_uc001qko.2_Silent_p.E1922E|CACNA1C_uc001qkp.2_Silent_p.E1902E|CACNA1C_uc001qkr.2_Silent_p.E1919E|CACNA1C_uc001qku.2_Silent_p.E1937E|CACNA1C_uc001qkq.2_Silent_p.E1930E|CACNA1C_uc001qks.2_Silent_p.E1902E|CACNA1C_uc001qkt.2_Silent_p.E1921E|CACNA1C_uc001qki.1_Silent_p.E1709E|CACNA1C_uc001qkj.1_Silent_p.E1673E|CACNA1C_uc001qkk.1_Silent_p.E1638E|CACNA1C_uc001qkm.1_Silent_p.E1698E|CACNA1C_uc010sea.1_Silent_p.E593E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E220E NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1985 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) TCCACCTGGAATGTCTGAAGC 0.562 NaN 0 0 0 0.004656 0 25 81 TNFRSF1A 7132 broad.mit.edu 37 12 6442925 6442925 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:6442925G>A uc001qnu.2 - 3 581 c.300C>T c.(298-300)CTC>CTT p.L100L TNFRSF1A_uc001qnt.2_5'UTR|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_5'UTR|TNFRSF1A_uc009zek.2_Intron|TNFRSF1A_uc010sfa.1_Silent_p.L100L NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 100 TNFR-Cys 2.|Extracellular (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 TGGAGCAGCTGAGGCAGTGTC 0.592 NaN 0 0 0 0.004672 0 3 3 NOP2 4839 broad.mit.edu 37 12 6675746 6675746 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:6675746T>C uc001qpk.1 - 3 231 c.187A>G c.(187-189)AAG>GAG p.K63E NOP2_uc001qph.1_Missense_Mutation_p.K63E|NOP2_uc001qpi.1_Missense_Mutation_p.K63E|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.K63E|NOP2_uc001qpm.1_Missense_Mutation_p.K63E P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. 63 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 TTATTTGTCTTAGGGGCTTCA 0.488 NaN 0 0 0 0.00632 0 25 34 C1R 715 broad.mit.edu 37 12 7244200 7244200 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:7244200C>T uc010sfy.1 - 2 138 c.79G>A c.(79-81)GGG>AGG p.G27R C1R_uc010sfz.1_Missense_Mutation_p.G41R|C1R_uc010sga.1_Missense_Mutation_p.G27R NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 27 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) GTCACCTCCCCAAATAACTTC 0.537 NaN 0 0 0 0.009096 0 4 3 DUSP16 80824 broad.mit.edu 37 12 12674023 12674023 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:12674023C>T uc001rao.1 - 2 642 c.10G>A c.(10-12)GAG>AAG p.E4K DUSP16_uc001ran.1_5'UTR NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 4 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) CCAATCATCTCATGGGCCATG 0.453 NaN 0 0 0 0.010729 0 11 17 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:20523043G>A uc001reh.1 + 1 847 c.825G>A c.(823-825)CTG>CTA p.L275L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627 NaN 0 0 0 0.008361 0 23 41 PDE3A 5139 broad.mit.edu 37 12 20799433 20799433 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:20799433G>A uc001reh.1 + 11 2283 c.2261G>A c.(2260-2262)AGA>AAA p.R754K NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 754 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GATCATAACAGAATCCATGCC 0.413 NaN 0 0 0 0.008361 0 27 35 DENND5B 160518 broad.mit.edu 37 12 31595714 31595714 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:31595714A>C uc001rki.1 - 7 2193 c.2007T>G c.(2005-2007)AGT>AGG p.S669R DENND5B_uc001rkh.1_Missense_Mutation_p.S704R|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.S691R NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 669 integral to membrane ovary(1)|central_nervous_system(1) 2 CTTACTTGTTACTGGTTGGTC 0.418 NaN 0 0 0 0.001984 0 6 20 YARS2 51067 broad.mit.edu 37 12 32906904 32906904 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:32906904G>A uc001rli.2 - 2 961 c.895C>T c.(895-897)CCA>TCA p.P299S NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 299 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AATTCAAATGGAGATGTCTTA 0.418 NaN 0 0 0 0.003755 0 33 69 SLC2A13 114134 broad.mit.edu 37 12 40499284 40499284 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:40499284G>A uc010skm.1 - 1 378 c.327C>T c.(325-327)CTC>CTT p.L109L SLC2A13_uc001rmf.2_Silent_p.L109L NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 109 Extracellular (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) GCTGCCGCTTGAGCAGCAGCA 0.697 NaN HNSCC(50;0.14) 0 0 0 0.004672 0 3 3 LRRK2 120892 broad.mit.edu 37 12 40748212 40748212 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:40748212G>A uc001rmg.3 + 45 6809 c.6688G>A c.(6688-6690)GAA>AAA p.E2230K LRRK2_uc009zjw.2_Missense_Mutation_p.E1068K|LRRK2_uc001rmi.2_Missense_Mutation_p.E1063K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2230 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 ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CATCAATACCGAAGATGGGAA 0.408 NaN 0 0 0 0.00308 0 8 23 CNTN1 1272 broad.mit.edu 37 12 41327360 41327360 + Silent SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:41327360A>T uc001rmm.1 + 8 914 c.801A>T c.(799-801)GGA>GGT p.G267G CNTN1_uc009zjy.1_Silent_p.G267G|CNTN1_uc001rmn.1_Silent_p.G256G|CNTN1_uc001rmo.2_Silent_p.G267G NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 267 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTGCACTTGGAAAGTAAGTAT 0.284 NaN 0 0 0 0.00333 0 24 67 ARID2 196528 broad.mit.edu 37 12 46287315 46287315 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:46287315C>T uc001ros.1 + 19 5260 c.5260C>T c.(5260-5262)CGA>TGA p.R1754* ARID2_uc001ror.2_Nonsense_Mutation_p.R1754*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R1210*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R1381*|ARID2_uc001rou.1_Nonsense_Mutation_p.R1088* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1754 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCTTGTCTTTCGAGATTTTAC 0.403 NaN 0 0 0 0.005443 0 26 36 H1FNT 341567 broad.mit.edu 37 12 48723371 48723371 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:48723371G>A uc001rrm.2 + 1 609 c.297G>A c.(295-297)GCG>GCA p.A99A NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 99 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 GCCACGAAGCGCCCAGGGGGC 0.667 NaN 0 0 0 0.00278 0 17 19 TROAP 10024 broad.mit.edu 37 12 49719543 49719543 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:49719543C>G uc001rtx.3 + 5 676 c.509C>G c.(508-510)TCT>TGT p.S170C TROAP_uc009zlh.2_Missense_Mutation_p.S170C|TROAP_uc001rty.2_5'Flank NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 170 cell adhesion cytoplasm ovary(1) 1 GTTCGGGCCTCTGCATATTTG 0.622 NaN 0 0 0 0.013537 0 12 36 LIMA1 51474 broad.mit.edu 37 12 50571638 50571638 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:50571638G>A uc001rwj.3 - 11 1663 c.1489C>T c.(1489-1491)CCT>TCT p.P497S LIMA1_uc001rwg.3_Missense_Mutation_p.P195S|LIMA1_uc001rwh.3_Missense_Mutation_p.P336S|LIMA1_uc001rwi.3_Missense_Mutation_p.P338S|LIMA1_uc001rwk.3_Missense_Mutation_p.P498S|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 497 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TTAGCAATAGGGGCATCTTCT 0.522 NaN 0 0 0 0.009718 0 45 85 SLC11A2 4891 broad.mit.edu 37 12 51384657 51384657 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:51384657A>G uc001rxe.3 - 15 1593 c.1496T>C c.(1495-1497)GTC>GCC p.V499A SLC11A2_uc001rxd.3_Missense_Mutation_p.V348A|SLC11A2_uc001rxc.3_Missense_Mutation_p.V499A|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Missense_Mutation_p.V112A|SLC11A2_uc010smx.1_Missense_Mutation_p.V495A|SLC11A2_uc001rxh.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxj.1_Missense_Mutation_p.V499A|SLC11A2_uc001rxi.2_Missense_Mutation_p.V499A|SLC11A2_uc001rxk.1_Missense_Mutation_p.V528A|SLC11A2_uc010smy.1_Missense_Mutation_p.V462A NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 499 Helical; (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 TAGGTCCCGGACATAAACCAC 0.478 NaN 0 0 0 0.008871 0 20 38 KRT7 3855 broad.mit.edu 37 12 52627001 52627001 + Translation_Start_Site SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:52627001A>G uc001saa.1 + 1 48 c.-79A>G c.(-81--77)ATAAA>ATGAA KRT7_uc009zmf.1_Translation_Start_Site NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) TCCCGCGGATAAAAGGCGCGG 0.731 NaN 0 0 0 0.000602 0 5 2 KRT84 3890 broad.mit.edu 37 12 52777374 52777374 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:52777374T>C uc001sah.1 - 2 803 c.755A>G c.(754-756)AAG>AGG p.K252R NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 252 Rod.|Coil 1B. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTCACTCACTTCTTCTTGAA 0.582 NaN 0 0 0 0.001168 0 6 30 KRT3 3850 broad.mit.edu 37 12 53186528 53186528 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:53186528A>G uc001say.2 - 4 1056 c.990T>C c.(988-990)GAT>GAC p.D330D NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 330 Rod.|Coil 1B. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 AGTCGATCTCATCTATCAAGG 0.473 NaN 0 0 0 0.01441 0 70 154 CALCOCO1 57658 broad.mit.edu 37 12 54115352 54115352 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:54115352C>T uc001sef.2 - 6 801 c.657G>A c.(655-657)CTG>CTA p.L219L CALCOCO1_uc010som.1_Silent_p.L186L|CALCOCO1_uc010son.1_Silent_p.L96L|CALCOCO1_uc001seh.2_Silent_p.L219L|CALCOCO1_uc009znd.2_Silent_p.L219L|CALCOCO1_uc001seg.2_Silent_p.L96L|CALCOCO1_uc010soo.1_Silent_p.L212L NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 219 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GTTGCCGGCTCAGGATGTCCC 0.537 NaN 0 0 0 0.01441 0 138 260 HOXC9 3225 broad.mit.edu 37 12 54394372 54394372 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:54394372G>A uc001sep.2 + 2 498 c.400G>A c.(400-402)GAG>AAG p.E134K HOXC9_uc001seq.2_Missense_Mutation_p.E134K NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 134 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 CGGCCCAGGGGAGGGCCGCAG 0.781 NaN 0 0 0 0.000602 0 4 2 HOXC5 3222 broad.mit.edu 37 12 54428131 54428131 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:54428131A>T uc001sew.2 + 2 599 c.524A>T c.(523-525)CAC>CTC p.H175L HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 175 Homeobox. regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAAGAATTCCACTTTAACCGC 0.537 NaN 0 0 0 0.01441 0 47 76 OR6C1 390321 broad.mit.edu 37 12 55714720 55714720 + Silent SNP C C T rs149008799 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:55714720C>T uc010spi.1 + 1 337 c.337C>T c.(337-339)CTG>TTG p.L113L NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 GTTTTACCTTCTGGCTGCCAT 0.403 NaN 0 0 0 0.008291 0 11 28 OR6C65 403282 broad.mit.edu 37 12 55794973 55794973 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:55794973A>G uc010spl.1 + 1 661 c.661A>G c.(661-663)AAA>GAA p.K221E NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTCATCCTTAAAACAATTCT 0.418 NaN 0 0 0 0.004878 0 36 93 OR6C2 341416 broad.mit.edu 37 12 55846108 55846108 + Silent SNP A A G rs142313431 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:55846108A>G uc001sgz.1 + 1 111 c.111A>G c.(109-111)GTA>GTG p.V37V NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTTGAGTGTAACAGGGAACC 0.403 NaN 0 0 0 0.010504 0 20 42 SUOX 6821 broad.mit.edu 37 12 56396035 56396035 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:56396035C>T uc001six.2 + 4 356 c.30C>T c.(28-30)CTC>CTT p.L10L SUOX_uc009zoh.2_Silent_p.L10L|SUOX_uc001siy.2_Silent_p.L10L|SUOX_uc001siz.2_Silent_p.L10L|SUOX_uc001sja.2_Silent_p.L10L NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 10 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTGTGGTCCTCAGGCTCCAAC 0.547 NaN 0 0 0 0.014323 0 21 45 PPM1H 57460 broad.mit.edu 37 12 63195923 63195923 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:63195923G>A uc001srk.3 - 3 578 c.429C>T c.(427-429)TCC>TCT p.S143S NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 143 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) AATAGTGGCAGGAAACACCCT 0.617 NaN 0 0 0 0.009096 0 3 24 LGR5 8549 broad.mit.edu 37 12 71833861 71833861 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:71833861A>G uc001swl.2 + 1 49 c.1A>G c.(1-3)ATG>GTG p.M1V TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.M1V|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 1 integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TTCGGGCACCATGGACACCTC 0.721 NaN 0 0 0 0.007291 0 28 38 TMEM19 55266 broad.mit.edu 37 12 72080580 72080580 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:72080580C>A uc001sws.2 + 1 703 c.120C>A c.(118-120)AGC>AGA p.S40R TMEM19_uc001swr.1_Missense_Mutation_p.S26R|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 40 integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) TGACTGCAAGCACCTATTATG 0.318 NaN 1 0 0.000274275 0.004482 0.000284165 7 49 SYT1 6857 broad.mit.edu 37 12 79689917 79689917 + Nonsense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:79689917C>G uc001sys.2 + 8 1214 c.543C>G c.(541-543)TAC>TAG p.Y181* SYT1_uc001syt.2_Nonsense_Mutation_p.Y181*|SYT1_uc001syu.2_Nonsense_Mutation_p.Y178*|SYT1_uc001syv.2_Nonsense_Mutation_p.Y181* NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 181 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1. detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 CTGATCCTTACGTGAAAGTGT 0.433 NaN 0 0 0 0.010818 0 31 40 PPFIA2 8499 broad.mit.edu 37 12 82147869 82147869 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:82147869A>G uc001szo.1 - 3 293 c.132T>C c.(130-132)CGT>CGC p.R44R PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 TGTCTAGAAGACGATCCCTTT 0.527 NaN 0 0 0 0.009096 0 4 25 CEP290 80184 broad.mit.edu 37 12 88482816 88482816 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:88482816G>C uc001tar.2 - 31 4366 c.4022C>G c.(4021-4023)GCC>GGC p.A1341G CEP290_uc001taq.2_Missense_Mutation_p.A401G NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1341 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TACCTTTTGGGCTCCTTTGGT 0.209 NaN 0 0 0 0.00499 0 16 29 KERA 11081 broad.mit.edu 37 12 91449642 91449642 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:91449642T>C uc001tbl.2 - 2 1036 c.417A>G c.(415-417)CCA>CCG p.P139P NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 139 LRR 3. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 TTCTTGGCAATGGAGAAGGTA 0.413 NaN 0 0 0 0.00333 0 25 84 METAP2 10988 broad.mit.edu 37 12 95907493 95907493 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:95907493G>A uc001tec.2 + 11 1384 c.1250G>A c.(1249-1251)CGC>CAC p.R417H METAP2_uc010suv.1_Missense_Mutation_p.R394H|METAP2_uc009ztd.2_Missense_Mutation_p.R381H|METAP2_uc001ted.2_Missense_Mutation_p.R416H|METAP2_uc001tef.2_Missense_Mutation_p.R394H|METAP2_uc001tee.2_RNA NM_006838 NP_006829 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 417 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 L-Methionine(DB00134) GCCTTCTGCCGCAGATGGCTG 0.408 NaN 0 0 0 0.009096 0 4 76 HAL 3034 broad.mit.edu 37 12 96374496 96374496 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:96374496G>C uc001tem.1 - 17 1654 c.1357C>G c.(1357-1359)CTA>GTA p.L453V HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.L245V|HAL_uc010sux.1_Missense_Mutation_p.L453V NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 453 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) AAGTAGTCTAGGGCCTGAAAG 0.493 NaN 0 0 0 0.005443 0 20 72 MYBPC1 4604 broad.mit.edu 37 12 102036322 102036322 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:102036322A>G uc001tii.2 + 9 818 c.716A>G c.(715-717)AAG>AGG p.K239R MYBPC1_uc001tif.1_Missense_Mutation_p.K252R|MYBPC1_uc001tig.2_Missense_Mutation_p.K264R|MYBPC1_uc010svq.1_Missense_Mutation_p.K226R|MYBPC1_uc001tih.2_Missense_Mutation_p.K264R|MYBPC1_uc001tij.2_Missense_Mutation_p.K239R|MYBPC1_uc010svr.1_Missense_Mutation_p.K239R|MYBPC1_uc010svs.1_Missense_Mutation_p.K239R|MYBPC1_uc010svt.1_Missense_Mutation_p.K227R|MYBPC1_uc010svu.1_Missense_Mutation_p.K220R|MYBPC1_uc001tik.2_Missense_Mutation_p.K213R NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 239 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 GGCATGCTCAAGCGACTCAAG 0.627 NaN 0 0 0 0.001855 0 14 26 CHPT1 56994 broad.mit.edu 37 12 102107950 102107950 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:102107950G>A uc001tin.2 + 2 579 c.356G>A c.(355-357)AGA>AAA p.R119K CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.R119K NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 119 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 AAACAAGCCAGAAGAACAAAC 0.378 NaN 0 0 0 0.01441 0 52 124 HSP90B1 7184 broad.mit.edu 37 12 104336508 104336508 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:104336508G>A uc001tkb.1 + 12 1683 c.1578G>A c.(1576-1578)CAG>CAA p.Q526Q HSP90B1_uc010swg.1_Silent_p.Q191Q|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 526 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) GCCTAGACCAGTATGTGGAAA 0.423 NaN 0 0 0 0.006122 0 18 60 MTERFD3 80298 broad.mit.edu 37 12 107371523 107371523 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:107371523C>T uc001tme.1 - 2 2789 c.970G>A c.(970-972)GAA>AAA p.E324K MTERFD3_uc001tmf.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E324K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E324K NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 GGTGTTAATTCAAGAACCATT 0.358 NaN 0 0 0 0.006999 0 38 106 CORO1C 23603 broad.mit.edu 37 12 109052672 109052672 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:109052672A>C uc001tnj.2 - 5 568 c.472T>G c.(472-474)TGG>GGG p.W158G CORO1C_uc009zva.2_Missense_Mutation_p.W211G|CORO1C_uc010sxf.1_Intron NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 158 WD 2. actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 CCCACATTCCAGATGATAATG 0.413 NaN 0 0 0 0.012319 0 20 61 UBE3B 89910 broad.mit.edu 37 12 109935646 109935646 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:109935646C>T uc001top.2 + 10 1340 c.737C>T c.(736-738)TCA>TTA p.S246L UBE3B_uc001toq.2_Missense_Mutation_p.S246L|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S246L NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 246 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GCACAGTTCTCAGACAATCTG 0.527 NaN 0 0 0 0.010818 0 32 90 UBE3B 89910 broad.mit.edu 37 12 109940962 109940962 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:109940962A>G uc001top.2 + 14 2020 c.1417A>G c.(1417-1419)ACT>GCT p.T473A UBE3B_uc001toq.2_Missense_Mutation_p.T473A|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T473A NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 473 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CTCGCTGACAACTCTCACACA 0.517 NaN 0 0 0 0.013537 0 12 39 OAS2 4939 broad.mit.edu 37 12 113442824 113442824 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:113442824C>A uc001tuj.2 + 7 1405 c.1265C>A c.(1264-1266)ACC>AAC p.T422N OAS2_uc001tui.1_Missense_Mutation_p.T422N NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 422 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 AAAAGCTACACCTCCCAAAAA 0.488 NaN 1 0 1.67942e-08 0.006122 1.77192e-08 19 34 DNAH10 196385 broad.mit.edu 37 12 124311275 124311275 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:124311275G>A uc001uft.3 + 24 3892 c.3867G>A c.(3865-3867)CTG>CTA p.L1289L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1289 Stem (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) GGATCAACCTGAATGTGCAGA 0.478 NaN 0 0 0 0.004878 0 38 85 GOLGA3 2802 broad.mit.edu 37 12 133351795 133351795 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:133351795T>G uc001ukz.1 - 22 4634 c.4075A>C c.(4075-4077)AAC>CAC p.N1359H GOLGA3_uc001ula.1_Missense_Mutation_p.N1359H NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1359 Potential.|Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTCTTCATGTTGTTCTTCAGC 0.582 NaN 0 0 0 0.003163 0 16 50 MPHOSPH8 54737 broad.mit.edu 37 13 20220640 20220640 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:20220640G>C uc001umh.2 + 3 436 c.427G>C c.(427-429)GAG>CAG p.E143Q MPHOSPH8_uc001umf.1_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E143Q|MPHOSPH8_uc001umi.2_5'UTR NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 143 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) TCAGCAAAGTGAGACAAAAGA 0.338 NaN 0 0 0 0.001168 0 5 32 MPHOSPH8 54737 broad.mit.edu 37 13 20220723 20220723 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:20220723G>A uc001umh.2 + 3 519 c.510G>A c.(508-510)AAG>AAA p.K170K MPHOSPH8_uc001umf.1_Silent_p.K170K|MPHOSPH8_uc001umg.2_Silent_p.K170K|MPHOSPH8_uc001umi.2_5'UTR NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 170 Lys-rich. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ATCTGAAAAAGAAAAAAGCAA 0.378 NaN 0 0 0 0.001984 0 6 33 MPHOSPH8 54737 broad.mit.edu 37 13 20220818 20220818 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:20220818G>C uc001umh.2 + 3 614 c.605G>C c.(604-606)AGA>ACA p.R202T MPHOSPH8_uc001umf.1_Missense_Mutation_p.R202T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R202T|MPHOSPH8_uc001umi.2_5'UTR NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 202 Lys-rich. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ACAAAGAAAAGAATTTCTGAA 0.279 NaN 0 0 0 0.00308 0 8 26 MPHOSPH8 54737 broad.mit.edu 37 13 20221193 20221193 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:20221193G>C uc001umh.2 + 3 989 c.980G>C c.(979-981)AGA>ACA p.R327T MPHOSPH8_uc001umf.1_Missense_Mutation_p.R327T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R327T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R24T NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 327 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ACCGATGTCAGAGGCAGGAGG 0.512 NaN 0 0 0 0.001984 0 5 38 ZMYM2 7750 broad.mit.edu 37 13 20633593 20633593 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:20633593C>T uc001umr.2 + 17 2928 c.2630C>T c.(2629-2631)ACT>ATT p.T877I ZMYM2_uc001ums.2_Missense_Mutation_p.T877I|ZMYM2_uc001umt.2_Missense_Mutation_p.T877I|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.T257I|ZMYM2_uc001umw.2_Missense_Mutation_p.T330I NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 877 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) TTAGATGATACTTGGAGGACA 0.338 NaN 0 0 0 0.013537 0 12 28 PDX1 3651 broad.mit.edu 37 13 28494606 28494606 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:28494606G>A uc001urt.2 + 1 439 c.331G>A c.(331-333)GAG>AAG p.E111K uc001urs.1_Intron NM_000209 NP_000200 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 111 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CGTCCTGGAGGAGCCCAACCG 0.701 NaN 0 0 0 0.001984 0 6 6 PDS5B 23047 broad.mit.edu 37 13 33327664 33327664 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:33327664A>G uc010abf.2 + 25 3089 c.2931A>G c.(2929-2931)GCA>GCG p.A977A PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 977 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AGCAGCATGCAGCTGTTAGTG 0.363 NaN 0 0 0 0.004672 0 3 28 KL 9365 broad.mit.edu 37 13 33635170 33635170 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:33635170G>A uc001uus.2 + 4 1962 c.1954G>A c.(1954-1956)GCC>ACC p.A652T KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 652 Glycosyl hydrolase-1 2.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GCGCCTCCTGGCCAGGCAGGG 0.627 NaN 0 0 0 0.013537 0 12 61 FAM48A 55578 broad.mit.edu 37 13 37603934 37603934 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:37603934C>T uc001uwg.2 - 13 1209 c.961G>A c.(961-963)GAT>AAT p.D321N FAM48A_uc010abt.2_Missense_Mutation_p.D322N|FAM48A_uc001uwh.2_Missense_Mutation_p.D322N|FAM48A_uc001uwi.2_Missense_Mutation_p.D321N|FAM48A_uc001uwj.2_Missense_Mutation_p.D322N|FAM48A_uc001uwk.2_Missense_Mutation_p.D321N|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Missense_Mutation_p.D321N NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 321 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) TGTGAGTCATCAGATTTGATA 0.348 NaN 0 0 0 0.004482 0 8 46 FREM2 341640 broad.mit.edu 37 13 39262253 39262253 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:39262253G>A uc001uwv.2 + 1 1081 c.772G>A c.(772-774)GCT>ACT p.A258T NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 258 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) GGACTGCAAAGCTTTCCAGGA 0.642 NaN 0 0 0 0.012319 0 19 79 NHLRC3 387921 broad.mit.edu 37 13 39621938 39621938 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:39621938C>T uc001uxc.2 + 7 1241 c.919C>T c.(919-921)CAA>TAA p.Q307* NHLRC3_uc001uxd.2_Nonsense_Mutation_p.Q240*|NHLRC3_uc001uxe.2_Nonsense_Mutation_p.Q110* NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 307 NHL 4. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ACTAGCAGATCAAGTTTTGCC 0.468 NaN 0 0 0 0.012319 0 18 43 FOXO1 2308 broad.mit.edu 37 13 41134387 41134387 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:41134387A>G uc001uxl.3 - 2 1626 c.1241T>C c.(1240-1242)TTG>TCG p.L414S FOXO1_uc010acc.1_Missense_Mutation_p.L229S NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 414 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|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 factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GGGTGAATTCAAACTGGTGTT 0.488 NaN 0 0 0 0.005443 0 22 93 KIAA0564 23078 broad.mit.edu 37 13 42189117 42189117 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:42189117C>T uc001uyj.2 - 38 4785 c.4715G>A c.(4714-4716)GGA>GAA p.G1572E NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1572 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) CCAACCTGTTCCGCCAGCCCA 0.577 NaN 0 0 0 0.004482 0 9 42 DGKH 160851 broad.mit.edu 37 13 42763216 42763216 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:42763216G>A uc001uyl.1 + 15 1704 c.1683G>A c.(1681-1683)TTG>TTA p.L561L DGKH_uc010tfh.1_Silent_p.L561L|DGKH_uc001uym.1_Silent_p.L561L|DGKH_uc010tfi.1_Silent_p.L316L|DGKH_uc010tfj.1_Silent_p.L416L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.L416L|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 561 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TGCAGGCTTTGCACACAGATT 0.483 NaN 0 0 0 0.006214 0 8 32 CPB2 1361 broad.mit.edu 37 13 46661885 46661885 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:46661885A>G uc001vaw.2 - 2 212 c.145T>C c.(145-147)TAT>CAT p.Y49H uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.Y49H NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 49 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ATTACCTCATATGTTGTAGTA 0.373 NaN 0 0 0 0.01441 0 42 56 SETDB2 83852 broad.mit.edu 37 13 50050956 50050956 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:50050956A>T uc001vcz.2 + 7 1592 c.686A>T c.(685-687)CAG>CTG p.Q229L SETDB2_uc010adg.2_Missense_Mutation_p.Q205L|SETDB2_uc001vcy.3_Missense_Mutation_p.Q217L|SETDB2_uc010adh.2_Missense_Mutation_p.Q217L|SETDB2_uc001vda.2_Missense_Mutation_p.Q217L NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 229 MBD. 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) ACCTATGTTCAGTTGGCTCGG 0.378 NaN 0 0 0 0.013726 0 34 49 CKAP2 26586 broad.mit.edu 37 13 53035696 53035696 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:53035696A>G uc001vgv.2 + 4 935 c.738A>G c.(736-738)ACA>ACG p.T246T CKAP2_uc001vgt.2_Silent_p.T245T|CKAP2_uc001vgu.2_Silent_p.T245T|CKAP2_uc010tha.1_Silent_p.T197T NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 246 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) TGAGCACTACATCTCAGAACA 0.423 NaN 0 0 0 0.010729 0 9 30 MYCBP2 23077 broad.mit.edu 37 13 77669735 77669735 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:77669735G>A uc001vkf.2 - 59 9934 c.9843C>T c.(9841-9843)GTC>GTT p.V3281V MYCBP2_uc010aev.2_Silent_p.V2685V|MYCBP2_uc001vke.2_5'Flank NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3281 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) TAGATTGTTTGACCTGGCGAA 0.373 NaN 0 0 0 0.004656 0 24 33 MYCBP2 23077 broad.mit.edu 37 13 77852999 77852999 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:77852999T>C uc001vkf.2 - 5 619 c.528A>G c.(526-528)ACA>ACG p.T176T MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 176 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) GAGAAAATCGTGTCTCTTTGA 0.438 NaN 0 0 0 0.006122 0 16 29 RAP2A 5911 broad.mit.edu 37 13 98086808 98086808 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:98086808C>T uc001vnd.2 + 1 334 c.84C>T c.(82-84)TTC>TTT p.F28F NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 28 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) CCGGCACCTTCATCGAGAAAT 0.597 NaN 0 0 0 0.013726 0 33 105 FARP1 10160 broad.mit.edu 37 13 99083317 99083317 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:99083317G>A uc001vnj.2 + 18 2262 c.1926G>A c.(1924-1926)TGG>TGA p.W642* FARP1_uc001vnh.2_Nonsense_Mutation_p.W642* NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 642 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTCACCTGTGGAAGCACAGCG 0.577 NaN 0 0 0 0.010729 0 11 46 CUL4A 8451 broad.mit.edu 37 13 113893835 113893835 + Silent SNP G G T rs138821614 byFrequency TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr13:113893835G>T uc010tjy.1 + 11 1016 c.1005G>T c.(1003-1005)GCG>GCT p.A335A CUL4A_uc010tjx.1_Silent_p.A235A|CUL4A_uc010agu.2_Silent_p.A196A|CUL4A_uc010tjz.1_Silent_p.A14A NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 335 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) GGCAGCAGGCGCTGCTGCAGC 0.637 NaN 1 0 1.96895e-08 0.00278 2.07232e-08 20 74 POTEG 404785 broad.mit.edu 37 14 19566047 19566047 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:19566047A>G uc001vuz.1 + 6 1143 c.1091A>G c.(1090-1092)CAG>CGG p.Q364R POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 364 ovary(1) 1 AAAGAAAAACAGATGCTAAAA 0.229 NaN 0 0 0 0.013537 0 10 135 TEP1 7011 broad.mit.edu 37 14 20871547 20871547 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:20871547C>G uc001vxe.2 - 7 1295 c.1255G>C c.(1255-1257)GAG>CAG p.E419Q TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.E311Q NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 419 TROVE. 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) TTTCTCTGCTCTTCTCTGAGA 0.408 NaN 0 0 0 0.01441 0 65 97 JUB 84962 broad.mit.edu 37 14 23451348 23451348 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:23451348C>T uc001whz.2 - 1 504 c.128G>A c.(127-129)GGA>GAA p.G43E NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 43 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CTTCCTAGGTCCCCCCAACCC 0.677 NaN 0 0 0 0.010729 0 11 42 DHRS4L2 317749 broad.mit.edu 37 14 24470602 24470602 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:24470602C>T uc001wli.3 + 6 671 c.541C>T c.(541-543)CCT>TCT p.P181S DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Missense_Mutation_p.P104S|DHRS4L2_uc010alb.2_Missense_Mutation_p.P55S NM_198083 NP_932349 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 119 binding|oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) GGGCTTCAGTCCTTACAATGT 0.478 NaN 0 0 0 0.009535 0 25 88 NRL 4901 broad.mit.edu 37 14 24551781 24551781 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:24551781C>T uc001wlo.2 - 2 408 c.277G>A c.(277-279)GAA>AAA p.E93K NRL_uc001wlp.2_Missense_Mutation_p.E93K|NRL_uc001wlq.2_Missense_Mutation_p.E93K NM_006177 NP_006168 P54845 NRL_HUMAN neural retina leucine zipper 93 response to stimulus|transcription from RNA polymerase II promoter|visual perception nucleus leucine zipper domain binding|sequence-specific DNA binding 0 GBM - Glioblastoma multiforme(265;0.0181) ATGGCCTCTTCAGGACTCAGC 0.682 NaN 0 0 0 0.010729 0 12 37 LTB4R2 56413 broad.mit.edu 37 14 24780363 24780363 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:24780363G>A uc001woq.1 + 1 2203 c.586G>A c.(586-588)GAC>AAC p.D196N CIDEB_uc001woo.2_5'UTR|CIDEB_uc001wop.2_5'UTR|LTB4R2_uc010alo.2_Missense_Mutation_p.D165N|LTB4R2_uc001wor.2_Missense_Mutation_p.D165N|LTB4R_uc001wos.2_5'Flank|LTB4R_uc010alp.2_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 196 Extracellular (Potential). chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane 0 GBM - Glioblastoma multiforme(265;0.018) CCTGTGGAGGGACCGCGTATG 0.731 NaN 0 0 0 0.001984 0 6 15 PRKD1 5587 broad.mit.edu 37 14 30046445 30046445 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:30046445C>T uc001wqh.2 - 18 2919 c.2738G>A c.(2737-2739)TGA>TAA p.*913* NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 913 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AGATGGAACTCAGAGGATGCT 0.443 NaN 0 0 0 0.010504 0 19 46 STRN3 29966 broad.mit.edu 37 14 31416386 31416386 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:31416386G>A uc001wqu.2 - 5 842 c.626C>T c.(625-627)TCA>TTA p.S209L STRN3_uc001wqv.2_Missense_Mutation_p.S209L|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 209 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) ATTTGGTTCTGAATTAGATAG 0.348 NaN 0 0 0 0.005443 0 25 62 NKX2-8 26257 broad.mit.edu 37 14 37050400 37050400 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:37050400G>A uc001wtx.2 - 2 619 c.427C>T c.(427-429)CGC>TGC p.R143C NM_014360 NP_055175 O15522 NKX28_HUMAN NK2 homeobox 8 143 Homeobox. liver development|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0171) CCTGGAGCGCGAGCGCGCTTC 0.701 NaN 0 0 0 0.000602 0 4 6 MIPOL1 145282 broad.mit.edu 37 14 37739687 37739687 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:37739687C>T uc001wuc.2 + 7 953 c.450C>T c.(448-450)CTC>CTT p.L150L MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Silent_p.L119L|MIPOL1_uc001wud.2_Silent_p.L150L|MIPOL1_uc010ams.2_Silent_p.L150L|MIPOL1_uc001wue.2_Silent_p.L119L|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 150 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AGCTGGAACTCCAAGAGAAAG 0.333 NaN 0 0 0 0.004482 0 8 15 FOXA1 3169 broad.mit.edu 37 14 38061866 38061866 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:38061866C>T uc001wuf.2 - 2 435 c.123G>A c.(121-123)ATG>ATA p.M41I FOXA1_uc010tpz.1_Missense_Mutation_p.M8I NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 41 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TCATGGAGTTCATGGAGCCCA 0.597 NaN 0 0 0 0.006214 0 9 60 LRFN5 145581 broad.mit.edu 37 14 42356687 42356687 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:42356687C>T uc001wvm.2 + 3 2057 c.859C>T c.(859-861)CCT>TCT p.P287S LRFN5_uc010ana.2_Missense_Mutation_p.P287S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 287 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTGTGAGCCTCCTCTCATTAC 0.493 NaN HNSCC(30;0.082) 0 0 0 0.003163 0 16 56 KLHL28 54813 broad.mit.edu 37 14 45414370 45414370 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:45414370C>T uc001wvq.2 - 2 1008 c.762G>A c.(760-762)TTG>TTA p.L254L KLHL28_uc001wvr.2_Silent_p.L254L|KLHL28_uc001wvt.3_Silent_p.L254L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 254 ovary(1) 1 GGGCTTCATTCAAAAGATGTT 0.398 NaN 0 0 0 0.001168 0 6 30 C14orf183 196913 broad.mit.edu 37 14 50559295 50559295 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:50559295T>C uc010tqk.1 - 1 67 c.67A>G c.(67-69)ATG>GTG p.M23V NM_001014830 NP_001014830 Q8WXQ3 CN183_HUMAN hypothetical protein LOC196913 23 0 CACATTTCCATCCAGATTTCA 0.418 NaN 0 0 0 0.013537 0 11 28 ARID4A 5926 broad.mit.edu 37 14 58820410 58820410 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:58820410G>A uc001xdp.2 + 17 1944 c.1690G>A c.(1690-1692)GAG>AAG p.E564K ARID4A_uc001xdo.2_Missense_Mutation_p.E564K|ARID4A_uc001xdq.2_Missense_Mutation_p.E564K|ARID4A_uc010apg.1_Missense_Mutation_p.E242K NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 564 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CTCTGAAGGAGAGGAAGATGA 0.358 NaN 0 0 0 0.010729 0 11 16 C14orf39 317761 broad.mit.edu 37 14 60945040 60945040 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:60945040G>A uc001xez.3 - 5 411 c.301C>T c.(301-303)CAA>TAA p.Q101* C14orf39_uc010apo.2_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 101 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ACAGTTCCTTGATAAACAGTA 0.289 NaN 0 0 0 0.003163 0 12 27 HSPA2 3306 broad.mit.edu 37 14 65008648 65008648 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:65008648G>C uc001xhj.2 + 2 1157 c.1081G>C c.(1081-1083)GAG>CAG p.E361Q HSPA2_uc001xhk.3_Missense_Mutation_p.E361Q NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 361 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CAACGGCAAGGAGCTGAACAA 0.602 NaN 0 0 0 0.003163 0 15 42 MPP5 64398 broad.mit.edu 37 14 67768707 67768707 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:67768707G>A uc001xjc.2 + 6 1139 c.673G>A c.(673-675)GAT>AAT p.D225N MPP5_uc001xjd.2_Missense_Mutation_p.D191N|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 225 Interaction with LIN7C (By similarity).|L27 2. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) ACTGGCCCACGATAAGGTTGC 0.383 NaN 0 0 0 0.00245 0 14 31 SLC8A3 6547 broad.mit.edu 37 14 70513028 70513028 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:70513028C>G uc001xly.2 - 8 3174 c.2420G>C c.(2419-2421)AGC>ACC p.S807T SLC8A3_uc001xlu.2_Missense_Mutation_p.S164T|SLC8A3_uc001xlv.2_Missense_Mutation_p.S178T|SLC8A3_uc001xlw.2_Missense_Mutation_p.S804T|SLC8A3_uc001xlx.2_Missense_Mutation_p.S805T|SLC8A3_uc001xlz.2_Missense_Mutation_p.S801T|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 807 Alpha-2.|Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGCAGCTTTGCTGGCAAACGT 0.557 NaN OREG0022773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 20 SLC8A3 6547 broad.mit.edu 37 14 70634195 70634195 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:70634195C>T uc001xly.2 - 2 1699 c.945G>A c.(943-945)GAG>GAA p.E315E SLC8A3_uc001xlw.2_Silent_p.E315E|SLC8A3_uc001xlx.2_Silent_p.E315E|SLC8A3_uc001xlz.2_Silent_p.E315E|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 315 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCGGATCATCTCTCTGCGGG 0.483 NaN 0 0 0 0.003163 0 14 44 TTC9 23508 broad.mit.edu 37 14 71134362 71134362 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:71134362A>C uc001xmi.2 + 2 831 c.488A>C c.(487-489)AAC>ACC p.N163T NM_015351 NP_056166 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 163 TPR 3. binding 0 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) GAAGGGGAGAACTTCAAGGCC 0.507 NaN 0 0 0 0.004007 0 17 48 TC2N 123036 broad.mit.edu 37 14 92258883 92258883 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:92258883G>A uc001xzu.3 - 9 1066 c.875C>T c.(874-876)ACG>ATG p.T292M TC2N_uc001xzt.3_Missense_Mutation_p.T292M|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.T292M NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 292 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) AAATACAAACGTTTCCATAAA 0.254 NaN 0 0 0 0.001984 0 6 24 TRIP11 9321 broad.mit.edu 37 14 92466417 92466417 + Silent SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:92466417T>A uc001xzy.2 - 12 5381 c.4593A>T c.(4591-4593)GCA>GCT p.A1531A TRIP11_uc010auf.1_Silent_p.A1267A NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1531 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) TTGATTTAACTGCATTTAAAA 0.353 NaN T PDGFRB AML 0 0 0 0.00308 0 7 25 GOLGA5 9950 broad.mit.edu 37 14 93299524 93299524 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:93299524C>A uc001yaz.1 + 10 1959 c.1777C>A c.(1777-1779)CAG>AAG p.Q593K GOLGA5_uc001yba.1_5'UTR NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 593 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TCGACTCCATCAGCTAACAGA 0.413 NaN T RET papillary thyroid 1 0 3.62473e-10 0.012319 3.8622e-10 22 50 DYNC1H1 1778 broad.mit.edu 37 14 102446773 102446773 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:102446773C>A uc001yks.2 + 5 1011 c.847C>A c.(847-849)CGT>AGT p.R283S NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 283 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AAACTTGGAACGTGCGTTATA 0.468 NaN 1 0 0.00024832 0.009096 0.000257894 4 35 ZNF839 55778 broad.mit.edu 37 14 102805205 102805205 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:102805205C>G uc001ylo.2 + 6 1714 c.1364C>G c.(1363-1365)CCA>CGA p.P455R ZNF839_uc010awk.1_Missense_Mutation_p.P571R|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P455R|ZNF839_uc001ylr.2_Missense_Mutation_p.P380R|ZNF839_uc001yls.2_Missense_Mutation_p.P70R|ZNF839_uc001ylt.2_Missense_Mutation_p.P45R NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 455 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 GAAATACACCCAGACAACCTT 0.502 NaN 0 0 0 0.001168 0 5 31 TRMT61A 115708 broad.mit.edu 37 14 103996324 103996324 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:103996324C>G uc001yng.2 + 2 128 c.9C>G c.(7-9)TTC>TTG p.F3L TRMT61A_uc010aws.2_Intron NM_152307 NP_689520 Q96FX7 TRM61_HUMAN tRNA(m1A58)-methyltransferase subunit TRM61 3 nucleus protein binding|tRNA (adenine-N1-)-methyltransferase activity 0 CCATGAGCTTCGTGGCATACG 0.617 NaN 0 0 0 0.000602 0 3 12 AHNAK2 113146 broad.mit.edu 37 14 105407270 105407270 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr14:105407270A>G uc010axc.1 - 7 14638 c.14518T>C c.(14518-14520)TCT>CCT p.S4840P AHNAK2_uc001ypx.2_Missense_Mutation_p.S4740P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4840 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCAGCTTGAGATGTTGGAACT 0.463 NaN 0 0 0 0.009096 0 4 13 C15orf2 23742 broad.mit.edu 37 15 24922847 24922847 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:24922847G>A uc001ywo.2 + 1 2307 c.1833G>A c.(1831-1833)CAG>CAA p.Q611Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 611 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) GTGCAGAGCAGAGGCACCCGG 0.463 NaN 0 0 0 0.013537 0 12 49 NDNL2 56160 broad.mit.edu 37 15 29561649 29561649 + Silent SNP C C T rs138846663 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:29561649C>T uc001zco.2 - 1 369 c.261G>A c.(259-261)CTG>CTA p.L87L FAM189A1_uc010azk.1_Intron NM_138704 NP_619649 Q96MG7 MAGG1_HUMAN necdin-like 2 87 MAGE. regulation of growth cytoplasm|nucleus 0 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGGACACTTTCAGCTCCAGCT 0.478 NaN OREG0032044 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.013537 0 11 53 TRPM1 4308 broad.mit.edu 37 15 31360175 31360175 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:31360175T>C uc001zfm.2 - 4 462 c.334A>G c.(334-336)ATG>GTG p.M112V TRPM1_uc010azy.2_Missense_Mutation_p.M25V|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 112 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTGGGCTGCATCTCAAAGTTC 0.537 NaN 0 0 0 0.014323 0 22 81 EIF2AK4 440275 broad.mit.edu 37 15 40241433 40241433 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:40241433G>A uc001zkm.1 + 4 527 c.477G>A c.(475-477)CAG>CAA p.Q159Q EIF2AK4_uc001zkl.2_Silent_p.Q159Q NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 159 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGGAGCAGCAGAGGCTGTTGG 0.542 NaN 0 0 0 0.008291 0 10 33 RHOV 171177 broad.mit.edu 37 15 41165414 41165414 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:41165414C>T uc001znd.2 - 3 703 c.553G>A c.(553-555)GAG>AAG p.E185K NM_133639 NP_598378 Q96L33 RHOV_HUMAN ras homolog gene family, member V 185 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding 0 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCTGAGCACTCAAGGTAGCAG 0.577 NaN 0 0 0 0.00632 0 27 71 RHOV 171177 broad.mit.edu 37 15 41165937 41165937 + Missense_Mutation SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:41165937T>A uc001znd.2 - 2 362 c.212A>T c.(211-213)CAA>CTA p.Q71L NM_133639 NP_598378 Q96L33 RHOV_HUMAN ras homolog gene family, member V 71 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding 0 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CACCAGGACTTGCACTGCAGG 0.697 NaN 0 0 0 0.00333 0 23 91 INO80 54617 broad.mit.edu 37 15 41337108 41337108 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:41337108C>G uc001zni.2 - 24 3114 c.2901G>C c.(2899-2901)TTG>TTC p.L967F INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 967 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTACCTTTAACAAAGGGCAGC 0.388 NaN 0 0 0 0.001984 0 7 29 INO80 54617 broad.mit.edu 37 15 41337203 41337203 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:41337203C>T uc001zni.2 - 24 3019 c.2806G>A c.(2806-2808)GAA>AAA p.E936K INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 936 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 CTCTCCCCTTCTGGCGCTCCC 0.493 NaN 0 0 0 0.00499 0 14 49 WDR76 79968 broad.mit.edu 37 15 44127283 44127283 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:44127283G>A uc001zti.1 + 3 510 c.487G>A c.(487-489)GAA>AAA p.E163K NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 163 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) GTCACCCTACGAAAGGAAGAG 0.353 NaN 0 0 0 0.00308 0 8 28 COPS2 9318 broad.mit.edu 37 15 49437268 49437268 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:49437268G>C uc001zxf.2 - 2 141 c.62C>G c.(61-63)TCT>TGT p.S21C COPS2_uc001zxh.2_Missense_Mutation_p.S21C|COPS2_uc010ufa.1_Intron NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 21 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) ACTATCTTCAGAGTATTCCTG 0.348 NaN 0 0 0 0.003163 0 14 41 USP8 9101 broad.mit.edu 37 15 50776527 50776527 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:50776527G>A uc001zym.3 + 13 2359 c.1859G>A c.(1858-1860)AGA>AAA p.R620K USP8_uc001zyl.3_Missense_Mutation_p.R620K|USP8_uc001zyn.3_Missense_Mutation_p.R620K|USP8_uc010ufh.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 620 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GGAACTTTTAGAGAGGATACA 0.299 NaN 0 0 0 0.010729 0 9 49 DMXL2 23312 broad.mit.edu 37 15 51791720 51791720 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:51791720C>G uc002abf.2 - 18 3926 c.3701G>C c.(3700-3702)AGA>ACA p.R1234T DMXL2_uc010ufy.1_Missense_Mutation_p.R1234T|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1234 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) GTCTATAGATCTAAGAAGAAC 0.428 NaN 0 0 0 0.003163 0 16 40 DMXL2 23312 broad.mit.edu 37 15 51795035 51795035 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:51795035G>A uc002abf.2 - 17 3185 c.2960C>T c.(2959-2961)TCA>TTA p.S987L DMXL2_uc010ufy.1_Missense_Mutation_p.S987L|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 987 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TACTTCAACTGATTCTGGGAG 0.418 NaN 0 0 0 0.006214 0 9 46 RPL4 6124 broad.mit.edu 37 15 66792429 66792429 + Missense_Mutation SNP T T C rs139349583 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:66792429T>C uc002apv.2 - 9 1059 c.1003A>G c.(1003-1005)ATG>GTG p.M335V SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.M241V|RPL4_uc002apw.2_Missense_Mutation_p.M241V|RPL4_uc002apx.2_Missense_Mutation_p.M241V NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 335 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TTCCGGCGCATGGTCTTTGCA 0.328 NaN 0 0 0 0.010729 0 11 31 ANP32A 8125 broad.mit.edu 37 15 69080146 69080146 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:69080146G>A uc002arl.2 - 2 338 c.167C>T c.(166-168)TCA>TTA p.S56L NM_006305 NP_006296 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 56 LRR 2. intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding 0 GTTTGCGATTGAGGTGAGGCC 0.468 NaN 0 0 0 0.013537 0 13 56 NOX5 79400 broad.mit.edu 37 15 69327745 69327745 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:69327745C>T uc002ars.1 + 6 927 c.907C>T c.(907-909)CAA>TAA p.Q303* NOX5_uc002arp.1_Nonsense_Mutation_p.Q285*|NOX5_uc002arq.1_Nonsense_Mutation_p.Q257*|NOX5_uc010bid.1_Nonsense_Mutation_p.Q268*|NOX5_uc002arr.1_Nonsense_Mutation_p.Q275*|NOX5_uc010bie.1_Nonsense_Mutation_p.Q103*|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 303 Ferric oxidoreductase.|Cytoplasmic (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GTGGCTGGCTCAAGTCCTACC 0.612 NaN 0 0 0 0.010729 0 12 34 THAP10 56906 broad.mit.edu 37 15 71184460 71184460 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:71184460G>C uc002asv.2 - 1 294 c.152C>G c.(151-153)TCG>TGG p.S51W LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 51 THAP-type. DNA binding|metal ion binding ovary(1)|skin(1) 2 GCAGATGACCGAGCGGTCATT 0.637 NaN 0 0 0 0.00308 0 6 31 CYP11A1 1583 broad.mit.edu 37 15 74640360 74640360 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:74640360G>A uc002axt.2 - 2 461 c.306C>T c.(304-306)ATC>ATT p.I102I CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.I102I|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.I102I NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 102 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTTCAGGGTCGATGACATAAA 0.443 NaN 0 0 0 0.008871 0 15 31 SGK269 79834 broad.mit.edu 37 15 77406944 77406944 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:77406944T>G uc002bcm.2 - 6 5103 c.4795A>C c.(4795-4797)ATC>CTC p.I1599L NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1599 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) ATCTCATAGATGAGGATGCCT 0.547 NaN 0 0 0 0.003163 0 16 28 C15orf26 161502 broad.mit.edu 37 15 81440822 81440822 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:81440822C>G uc002bgb.2 + 7 881 c.854C>G c.(853-855)CCC>CGC p.P285R NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 285 0 CCCAAACCACCCACAGAGGAC 0.547 NaN 0 0 0 0.008291 0 9 50 TMC3 342125 broad.mit.edu 37 15 81636366 81636366 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:81636366G>A uc002bgo.1 - 14 1539 c.1539C>T c.(1537-1539)ATC>ATT p.I513I TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.I513I NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 513 Helical; (Potential). integral to membrane ovary(1)|liver(1) 2 GCATGTCAATGATGGAGAGCT 0.537 NaN 0 0 0 0.004482 0 8 32 AP3B2 8120 broad.mit.edu 37 15 83357579 83357579 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:83357579T>C uc010uoh.1 - 4 446 c.269A>G c.(268-270)AAG>AGG p.K90R AP3B2_uc010uoi.1_Missense_Mutation_p.K90R|AP3B2_uc010uoj.1_Intron|AP3B2_uc010uok.1_Missense_Mutation_p.K90R NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 90 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GACAAGCTTCTTCACCTTGGG 0.597 NaN 0 0 0 0.009096 0 3 6 ALPK3 57538 broad.mit.edu 37 15 85402570 85402570 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:85402570C>T uc002ble.2 + 7 4687 c.4520C>T c.(4519-4521)TCA>TTA p.S1507L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1507 Ig-like 2. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTTAGTGACTCAGTCTTGACA 0.572 NaN 0 0 0 0.009096 0 4 25 AKAP13 11214 broad.mit.edu 37 15 86087161 86087161 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:86087161C>T uc002blv.1 + 5 807 c.637C>T c.(637-639)CAC>TAC p.H213Y AKAP13_uc002blt.1_Missense_Mutation_p.H213Y|AKAP13_uc002blu.1_Missense_Mutation_p.H213Y NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 213 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCGAGGCTATCACAAGCTGCA 0.587 NaN 0 0 0 0.00245 0 12 40 FANCI 55215 broad.mit.edu 37 15 89848417 89848417 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:89848417A>C uc010bnp.1 + 29 3220 c.3130A>C c.(3130-3132)ATT>CTT p.I1044L FANCI_uc002bnm.1_Missense_Mutation_p.I984L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.I805L|FANCI_uc002bnq.1_Missense_Mutation_p.I457L NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 1044 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) GAGTCCTGTCATTCTGCTGCG 0.453 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.005443 0 24 58 IQGAP1 8826 broad.mit.edu 37 15 90976974 90976974 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr15:90976974T>C uc002bpl.1 + 5 515 c.414T>C c.(412-414)GAT>GAC p.D138D NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 138 CH. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAACTACAGATATCTATGATC 0.338 NaN 0 0 0 0.00333 0 22 62 LUC7L 55692 broad.mit.edu 37 16 239316 239316 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:239316T>C uc002cgc.1 - 10 1108 c.997A>G c.(997-999)AGA>GGA p.R333G LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_3'UTR|LUC7L_uc002cgb.1_Missense_Mutation_p.R247G NM_201412 NP_958815 Q9NQ29 LUC7L_HUMAN LUC7-like isoform b 333 Arg/Ser-rich. metal ion binding central_nervous_system(1) 1 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) GACTCCTCTCTGGATGCCCGC 0.647 NaN 0 0 0 0.01441 0 50 30 IFT140 9742 broad.mit.edu 37 16 1576661 1576661 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:1576661C>G uc002cmb.2 - 20 2898 c.2536G>C c.(2536-2538)GAG>CAG p.E846Q IFT140_uc002clz.2_Intron|TMEM204_uc002cmc.2_5'Flank NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 846 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) ACGCGGGCCTCTAGCTCCGGC 0.741 NaN 0 0 0 0.001984 0 5 10 CASKIN1 57524 broad.mit.edu 37 16 2236758 2236758 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:2236758C>A uc010bsg.1 - 10 1030 c.998G>T c.(997-999)CGG>CTG p.R333L NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 333 SH3. signal transduction cytoplasm skin(2) 2 GTAGCCCACCCGGTCATTGCC 0.677 NaN 1 0 6.94344e-10 0.006122 7.3892e-10 19 14 TMEM159 57146 broad.mit.edu 37 16 21172532 21172532 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:21172532C>T uc002dif.3 + 2 390 c.29C>T c.(28-30)TCA>TTA p.S10L DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.S10L|TMEM159_uc002dih.3_Missense_Mutation_p.S10L NM_020422 NP_065155 Q96B96 TM159_HUMAN transmembrane protein 159 10 integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0972) CAGAGTATCTCAAGGGACTTG 0.438 NaN 0 0 0 0.005443 0 24 52 ARHGAP17 55114 broad.mit.edu 37 16 24963676 24963676 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:24963676T>C uc002dnb.2 - 12 1073 c.980A>G c.(979-981)TAT>TGT p.Y327C ARHGAP17_uc002dna.2_Missense_Mutation_p.Y54C|ARHGAP17_uc002dnc.2_Missense_Mutation_p.Y327C|ARHGAP17_uc010vcf.1_Missense_Mutation_p.Y148C|ARHGAP17_uc002dnf.2_Missense_Mutation_p.Y235C NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 327 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) TTCCCGTAAATAGGATTTTAA 0.333 NaN 0 0 0 0.003163 0 13 24 IL4R 3566 broad.mit.edu 37 16 27373925 27373925 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:27373925G>A uc002don.2 + 11 1494 c.1252G>A c.(1252-1254)GAG>AAG p.E418K IL4R_uc002dop.3_Missense_Mutation_p.E403K|IL4R_uc010bxy.2_Missense_Mutation_p.E418K|IL4R_uc002doo.2_Missense_Mutation_p.E258K NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 418 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GCTCGGAGAGGAGAATGGGGG 0.597 NaN 0 0 0 0.010729 0 10 50 SULT1A2 6799 broad.mit.edu 37 16 28603636 28603636 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:28603636G>A uc002dqg.1 - 7 1074 c.723C>T c.(721-723)ACC>ACT p.T241T uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.T241T NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 241 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 GGCGGACGGTGGTGTAGTTGG 0.592 NaN 0 0 0 0.005443 0 26 121 PRRT2 112476 broad.mit.edu 37 16 29824989 29824989 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:29824989C>T uc002due.3 + 2 915 c.614C>T c.(613-615)TCA>TTA p.S205L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S205L|PRRT2_uc002duf.1_Missense_Mutation_p.S205L|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 205 Extracellular (Potential).|Pro-rich. response to biotic stimulus integral to membrane 0 TCACCACCCTCAAAAAAATCC 0.612 NaN 0 0 0 0.00308 0 7 8 PRSS53 339105 broad.mit.edu 37 16 31098143 31098143 + Missense_Mutation SNP C C T rs138969193 by1000genomes TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:31098143C>T uc002eaq.2 - 4 319 c.319G>A c.(319-321)GAA>AAA p.E107K PRSS53_uc002ear.2_5'UTR NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN polyserase 3 precursor 107 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity 0 CCCACCTCTTCGGCCCCAGGG 0.642 NaN 0 0 0 0.008291 0 11 56 ITGAM 3684 broad.mit.edu 37 16 31341893 31341893 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:31341893G>A uc002ebq.2 + 28 3341 c.3243G>A c.(3241-3243)CTG>CTA p.L1081L ITGAM_uc002ebr.2_Silent_p.L1082L|ITGAM_uc010can.2_Silent_p.L487L NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 1081 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TGTTCACCCTGCTGCCGGGAC 0.592 NaN 0 0 0 0.00308 0 7 14 ABCC12 94160 broad.mit.edu 37 16 48180326 48180326 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:48180326C>T uc002efc.1 - 1 356 c.10G>A c.(10-12)GAA>AAA p.E4K ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.E4K|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 4 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TAGGGTCCTTCACCCACCATC 0.552 NaN 0 0 0 0.004482 0 8 55 ADCY7 113 broad.mit.edu 37 16 50332877 50332877 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:50332877C>T uc002egd.1 + 7 1279 c.1011C>T c.(1009-1011)CCC>CCT p.P337P ADCY7_uc002egb.1_Silent_p.P337P|ADCY7_uc002egc.1_Silent_p.P337P NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 337 Cytoplasmic (Potential).|Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGGGCCTGCCCGTGTCGCTGC 0.637 NaN 0 0 0 0.00632 0 28 39 BRD7 29117 broad.mit.edu 37 16 50359717 50359717 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:50359717C>T uc002egf.1 - 12 1340 c.1273G>A c.(1273-1275)GAT>AAT p.D425N BRD7_uc002ege.1_Missense_Mutation_p.D425N NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 425 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) AAATCAGAATCATCCTTGCTG 0.338 NaN 0 0 0 0.00308 0 8 32 CNGB1 1258 broad.mit.edu 37 16 57918175 57918175 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:57918175C>T uc002emt.2 - 33 3714 c.3649G>A c.(3649-3651)GAG>AAG p.E1217K CNGB1_uc010cdh.2_Missense_Mutation_p.E1211K NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1217 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 TCTTCGGGCTCGGCCGGCCCC 0.726 NaN 0 0 0 0.003271 0 34 28 CTCF 10664 broad.mit.edu 37 16 67650746 67650746 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:67650746T>C uc002etl.2 + 5 1341 c.1051T>C c.(1051-1053)TTC>CTC p.F351L CTCF_uc010cek.2_Missense_Mutation_p.F23L NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 351 C2H2-type 4. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CGAGAAGCCATTCAAGTGTTC 0.468 NaN 0 0 0 0.013726 0 31 143 CENPT 80152 broad.mit.edu 37 16 67865747 67865747 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:67865747G>C uc002eun.3 - 8 982 c.433C>G c.(433-435)CCA>GCA p.P145A CENPT_uc002eum.3_Missense_Mutation_p.P145A|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.P42A NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 145 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGCAGACCTGGAGCCAGGGTT 0.582 NaN 0 0 0 0.010729 0 12 31 NIP7 51388 broad.mit.edu 37 16 69375197 69375197 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:69375197G>A uc002exa.2 + 4 584 c.397G>A c.(397-399)GTG>ATG p.V133M COG8_uc002ewy.2_5'Flank|COG8_uc002ewz.3_5'Flank|NIP7_uc002exb.2_Intron NM_016101 NP_057185 Q9Y221 NIP7_HUMAN nuclear import 7 133 PUA. ribosome assembly nucleolus protein binding|RNA binding breast(1) 1 Ovarian(137;0.101) GGGCGTGGTGGTGTACTCCAT 0.468 NaN 0 0 0 0.001855 0 12 23 TERF2 7014 broad.mit.edu 37 16 69419544 69419544 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:69419544G>C uc002exd.2 - 1 330 c.205C>G c.(205-207)CGG>GGG p.R69G TERF2_uc002exe.2_Missense_Mutation_p.R69G NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 69 TRFH dimerization. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) CGGCTACCCCGAAAGGCCCGC 0.582 NaN 0 0 0 0.009096 0 3 23 USP10 9100 broad.mit.edu 37 16 84778354 84778354 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:84778354A>G uc002fii.2 + 4 409 c.267A>G c.(265-267)GAA>GAG p.E89E USP10_uc010voe.1_Silent_p.E93E|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 89 Interaction with p53/TP53. DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 AGGCCCCTGAATTTATTCTCG 0.493 NaN 0 0 0 0.013726 0 31 47 APRT 353 broad.mit.edu 37 16 88877971 88877971 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr16:88877971G>A uc002flv.2 - 2 209 c.174C>T c.(172-174)ATC>ATT p.I58I APRT_uc002flw.2_Silent_p.I58I NM_000485 NP_000476 P07741 APT_HUMAN adenine phosphoribosyltransferase isoform a 58 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CGATGTAGTCGATGCGGCCCC 0.721 NaN 0 0 0 0.001168 0 4 7 MED11 400569 broad.mit.edu 37 17 4635097 4635097 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:4635097G>A uc002fyp.2 + 2 174 c.112G>A c.(112-114)GAA>AAA p.E38K NM_001001683 NP_001001683 Q9P086 MED11_HUMAN mediator complex subunit 11 38 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding 0 ATTGTCCAAGGAAAAAACTAA 0.617 NaN OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 12 18 SLC16A13 201232 broad.mit.edu 37 17 6941694 6941694 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:6941694C>T uc002geh.2 + 3 875 c.567C>T c.(565-567)CTC>CTT p.L189L NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN monocarboxylate transporter 13 189 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1)|skin(1) 2 GTGCTCTCCTCCGCCCACCCT 0.657 NaN 0 0 0 0.012213 0 32 44 SLC2A4 6517 broad.mit.edu 37 17 7187317 7187317 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:7187317T>C uc002gfp.2 + 5 673 c.473T>C c.(472-474)ATG>ACG p.M158T SLC2A4_uc002gfo.2_Missense_Mutation_p.M158T|SLC2A4_uc010cmd.2_RNA NM_001042 NP_001033 P14672 GTR4_HUMAN glucose transporter 4 158 Helical; Name=4; (Potential). carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding 0 CTGGTGCCCATGTACGTGGGG 0.612 NaN 0 0 0 0.006214 0 10 14 C17orf74 201243 broad.mit.edu 37 17 7329872 7329872 + Nonsense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:7329872G>T uc002ggw.2 + 3 635 c.562G>T c.(562-564)GAG>TAG p.E188* FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 188 integral to membrane 0 Prostate(122;0.157) CCTGGAGGAGGAGGACAACCT 0.592 NaN 1 0 9.72345e-25 0.01441 1.05429e-24 54 69 TP53 7157 broad.mit.edu 37 17 7578269 7578269 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:7578269G>A uc002gim.2 - 6 774 c.580C>T c.(580-582)CTT>TTT p.L194F TP53_uc002gig.1_Missense_Mutation_p.L194F|TP53_uc002gih.2_Missense_Mutation_p.L194F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62F|TP53_uc010cng.1_Missense_Mutation_p.L62F|TP53_uc002gii.1_Missense_Mutation_p.L62F|TP53_uc010cnh.1_Missense_Mutation_p.L194F|TP53_uc010cni.1_Missense_Mutation_p.L194F|TP53_uc002gij.2_Missense_Mutation_p.L194F|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101F|TP53_uc002gio.2_Missense_Mutation_p.L62F|TP53_uc010vug.1_Missense_Mutation_p.L155F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 194 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194fs*14(1)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194fs*52(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACTCGGATAAGATGCTGAGGA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00245 0 13 18 TMEM220 388335 broad.mit.edu 37 17 10628432 10628432 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:10628432A>G uc002gmx.2 - 4 661 c.183T>C c.(181-183)AGT>AGC p.S61S TMEM220_uc002gmy.2_Silent_p.S51S NM_001004313 NP_001004313 Q6QAJ8 TM220_HUMAN transmembrane protein 220 61 integral to membrane 0 TTGCAGAGATACTTTTCCAAA 0.388 NaN 0 0 0 0.013537 0 12 16 SREBF1 6720 broad.mit.edu 37 17 17716923 17716923 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:17716923A>G uc002gru.1 - 17 3256 c.3062T>C c.(3061-3063)CTG>CCG p.L1021P SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.L640P|SREBF1_uc002grq.1_Missense_Mutation_p.L540P|SREBF1_uc002grr.1_Missense_Mutation_p.L767P|SREBF1_uc002grs.1_Missense_Mutation_p.L997P|SREBF1_uc002grt.1_Missense_Mutation_p.L1051P NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 1021 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 CAGCCGCCTCAGGCTGCTCAG 0.711 NaN 0 0 0 0.004672 0 2 5 ULK2 9706 broad.mit.edu 37 17 19705182 19705182 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:19705182C>G uc002gwm.3 - 16 1858 c.1349G>C c.(1348-1350)GGA>GCA p.G450A ULK2_uc002gwn.2_Missense_Mutation_p.G450A NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 450 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GGAGCATGATCCCGGCCGGAG 0.507 NaN 0 0 0 0.01441 0 73 83 MYO18A 399687 broad.mit.edu 37 17 27493277 27493277 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:27493277T>C uc002hdt.1 - 2 840 c.682A>G c.(682-684)ACT>GCT p.T228A MYO18A_uc010csa.1_Missense_Mutation_p.T228A|MYO18A_uc002hdu.1_Missense_Mutation_p.T228A NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 228 PDZ. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AAGTCTCCAGTGGGCCGTCGT 0.667 NaN 0 0 0 0.013726 0 32 56 NF1 4763 broad.mit.edu 37 17 29679408 29679408 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:29679408C>T uc002hgg.2 + 51 7924 c.7591C>T c.(7591-7593)CAG>TAG p.Q2531* NF1_uc002hgh.2_Nonsense_Mutation_p.Q2510*|NF1_uc010cso.2_Nonsense_Mutation_p.Q719*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2531 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCAACCTTCTCAGGCCAACAC 0.388 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.004482 0 8 29 LIG3 3980 broad.mit.edu 37 17 33325294 33325294 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:33325294G>A uc002hik.1 + 13 2076 c.1968G>A c.(1966-1968)GGG>GGA p.G656G LIG3_uc002hij.2_Silent_p.G656G NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 656 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) GATTGGAGGGGCTGGTGCTGA 0.562 NaN Other_BER_factors OREG0024326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 13 42 DHRS11 79154 broad.mit.edu 37 17 34956152 34956152 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:34956152A>G uc002hnd.2 + 5 849 c.635A>G c.(634-636)AAG>AGG p.K212R MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 212 extracellular region binding|oxidoreductase activity 0 CTCCACGACAAGGACCCTGAG 0.572 NaN 0 0 0 0.00278 0 22 41 RARA 5914 broad.mit.edu 37 17 38510642 38510642 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:38510642A>G uc002huk.1 + 7 1351 c.896A>G c.(895-897)AAC>AGC p.N299S RARA_uc002hul.3_Missense_Mutation_p.N299S|RARA_uc010wfe.1_Missense_Mutation_p.N202S|RARA_uc002hun.1_Missense_Mutation_p.N294S NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 299 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CAGATGCACAACGCTGGCTTC 0.652 NaN T PML|ZNF145|TIF1|NUMA1|NPM1 APL 0 0 0 0.003163 0 15 71 KRT33B 3884 broad.mit.edu 37 17 39521742 39521742 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:39521742C>T uc002hwl.2 - 4 697 c.652G>A c.(652-654)GCT>ACT p.A218T NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 218 Linker 12.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) AGGTCCACAGCGGGAGCAGCG 0.562 NaN 0 0 0 0.00499 0 16 34 MEOX1 4222 broad.mit.edu 37 17 41719371 41719371 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:41719371C>G uc002idz.2 - 3 701 c.672G>C c.(670-672)ATG>ATC p.M224I MEOX1_uc002iea.2_Missense_Mutation_p.E167Q|MEOX1_uc002ieb.2_Missense_Mutation_p.M109I NM_004527 NP_004518 P50221 MEOX1_HUMAN mesenchyme homeobox 1 isoform 1 224 Homeobox. nucleus sequence-specific DNA binding 0 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GCTTCCACTTCATCCTTCGGT 0.582 NaN 0 0 0 0.012213 0 28 119 GRN 2896 broad.mit.edu 37 17 42427117 42427117 + Nonsense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:42427117C>G uc002igp.1 + 4 566 c.347C>G c.(346-348)TCA>TGA p.S116* GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 116 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TTCCAAAGATCAGGTGCAGCT 0.652 NaN 0 0 0 0.004672 0 3 20 FMNL1 752 broad.mit.edu 37 17 43318986 43318986 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:43318986G>C uc002iin.2 + 14 1770 c.1570G>C c.(1570-1572)GGC>CGC p.G524R FMNL1_uc002iiq.2_Missense_Mutation_p.G102R|FMNL1_uc010dag.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 524 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GGTGCCGACCGGCTCCCCCAG 0.716 NaN 0 0 0 0.001168 0 4 5 WNT9B 7484 broad.mit.edu 37 17 44954078 44954078 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:44954078G>A uc002ikw.1 + 4 1105 c.1068G>A c.(1066-1068)AAG>AAA p.K356K WNT9B_uc002ikx.1_Intron NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 356 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) ACACCTGCAAGCACTAGGCCT 0.627 NaN 0 0 0 0.010729 0 12 31 NPEPPS 9520 broad.mit.edu 37 17 45689897 45689897 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:45689897G>A uc002ilr.3 + 18 2390 c.2167G>A c.(2167-2169)GAA>AAA p.E723K NPEPPS_uc010wkt.1_Missense_Mutation_p.E719K|NPEPPS_uc010wku.1_Missense_Mutation_p.E687K|NPEPPS_uc010wkv.1_Missense_Mutation_p.E277K|NPEPPS_uc002ils.1_Missense_Mutation_p.E156K NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 723 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 GGCAACGTTAGAAGAAGCCCG 0.458 NaN 0 0 0 0.00499 0 16 55 SNX11 29916 broad.mit.edu 37 17 46189426 46189426 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:46189426G>A uc002inf.1 + 3 375 c.21G>A c.(19-21)ATG>ATA p.M7I SNX11_uc010wlg.1_5'UTR|SNX11_uc010wlh.1_5'UTR|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.M7I|SNX11_uc002inh.1_Missense_Mutation_p.M7I NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 7 cell communication|protein transport membrane phosphatidylinositol binding 0 GGTGTAGGATGTCGGAGAACC 0.458 NaN 0 0 0 0.013537 0 12 51 HOXB8 3218 broad.mit.edu 37 17 46690570 46690570 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:46690570C>T uc002inw.2 - 2 961 c.726G>A c.(724-726)AAG>AAA p.K242K HOXB7_uc002inv.2_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 242 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAGCCTACTTCTTGTCGCCCT 0.468 NaN 0 0 0 0.007413 0 16 83 SNF8 11267 broad.mit.edu 37 17 47013602 47013602 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:47013602G>A uc002ioj.2 - 5 410 c.352C>T c.(352-354)CTG>TTG p.L118L SNF8_uc002iok.2_Silent_p.L118L NM_007241 NP_009172 Q96H20 SNF8_HUMAN EAP30 subunit of ELL complex 118 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding 0 AAAGTTATCAGACCTGTTTGG 0.428 NaN 0 0 0 0.009096 0 3 24 PHB 5245 broad.mit.edu 37 17 47486813 47486813 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:47486813T>C uc002iox.1 - 4 346 c.273A>G c.(271-273)ACA>ACG p.T91T NM_002634 NP_002625 P35232 PHB_HUMAN prohibitin 91 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding 0 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) GGATGCGCAGTGTGATGTTGA 0.448 NaN 0 0 0 0.00632 0 26 55 EME1 146956 broad.mit.edu 37 17 48450605 48450605 + Translation_Start_Site SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:48450605G>A uc002iqs.1 + 1 16 c.-57G>A c.(-59--55)GCGTG>GCATG MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_5'Flank NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CGGGCCCTGCGTGGCAGTTGA 0.597 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.009096 0 4 4 CUEDC1 404093 broad.mit.edu 37 17 55950043 55950043 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:55950043G>A uc002ivd.1 - 5 1484 c.765C>T c.(763-765)TTC>TTT p.F255F CUEDC1_uc002ive.1_Silent_p.F255F NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 255 skin(2) 2 GAGCGAGGAGGAAGTCGCGGT 0.597 NaN 0 0 0 0.001168 0 5 37 RAD51C 5889 broad.mit.edu 37 17 56774148 56774148 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:56774148G>A uc002iwu.2 + 3 541 c.499G>A c.(499-501)GAT>AAT p.D167N RAD51C_uc010woa.1_Missense_Mutation_p.D167N|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 167 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTATGGTTGATAGAGTGGT 0.413 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 0 0 0 0.008361 0 29 42 RAD51C 5889 broad.mit.edu 37 17 56780655 56780655 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:56780655T>C uc002iwu.2 + 4 712 c.670T>C c.(670-672)TAT>CAT p.Y224H RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 224 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCACAAGTTTATCTTCTTCC 0.348 NaN Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 0 0 0 0.003954 0 24 42 TRIM37 4591 broad.mit.edu 37 17 57181659 57181659 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:57181659T>C uc002iwy.3 - 2 562 c.118A>G c.(118-120)ATT>GTT p.I40V TRIM37_uc002iwz.3_Missense_Mutation_p.I40V|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 40 RING-type; degenerate. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTTACCCTAATACAGCTGAAA 0.353 NaN Mulibrey_Nanism 0 0 0 0.004482 0 8 26 KCNH6 81033 broad.mit.edu 37 17 61615788 61615788 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:61615788C>T uc002jay.2 + 8 1799 c.1719C>T c.(1717-1719)CCC>CCT p.P573P KCNH6_uc010wpl.1_Silent_p.P450P|KCNH6_uc010wpm.1_Silent_p.P573P|KCNH6_uc002jaz.1_Silent_p.P520P NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 573 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGGGCTTCCCCGAGTGCCTGC 0.731 NaN 0 0 0 0.008291 0 8 13 POLG2 11232 broad.mit.edu 37 17 62493064 62493064 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:62493064C>T uc002jei.2 - 1 106 c.23G>A c.(22-24)AGG>AAG p.R8K POLG2_uc010deg.1_Missense_Mutation_p.R8K NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 8 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) ATGGCAGGCCCTGACGGCTAC 0.567 NaN 0 0 0 0.006122 0 16 53 BTBD17 388419 broad.mit.edu 37 17 72352856 72352856 + Silent SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:72352856G>T uc002jkn.2 - 3 1377 c.1377C>A c.(1375-1377)GCC>GCA p.A459A NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 459 extracellular region 0 GCAGGTGCAGGGCGTTCTCAA 0.647 NaN 1 0 2.98393e-07 0.00278 3.13295e-07 20 72 GRIN2C 2905 broad.mit.edu 37 17 72848655 72848655 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:72848655G>A uc002jlt.1 - 3 651 c.495C>T c.(493-495)TTC>TTT p.F165F GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.F165F|GRIN2C_uc002jlv.1_3'UTR NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 165 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGATGACGGCGAAGGCGCTCC 0.701 NaN 0 0 0 0.004482 0 6 17 CASKIN2 57513 broad.mit.edu 37 17 73498946 73498946 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:73498946C>G uc002joc.2 - 18 2759 c.2209G>C c.(2209-2211)GAG>CAG p.E737Q CASKIN2_uc010wsc.1_Missense_Mutation_p.E655Q NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 737 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGGGCCGCTCTGTGCCCTCT 0.657 NaN 0 0 0 0.000602 0 4 27 TSEN54 283989 broad.mit.edu 37 17 73515107 73515107 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:73515107T>C uc002jof.1 + 6 533 c.500T>C c.(499-501)GTG>GCG p.V167A TSEN54_uc002joe.1_Silent_p.C164C NM_207346 NP_997229 Q7Z6J9 SEN54_HUMAN tRNA splicing endonuclease 54 homolog 167 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGGGTTATGTGGTTCGACGA 0.453 NaN 0 0 0 0.01441 0 43 72 UNK 85451 broad.mit.edu 37 17 73813469 73813469 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:73813469C>T uc002jpm.2 + 10 1395 c.1395C>T c.(1393-1395)TCC>TCT p.S465S NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 389 nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CACCGGGCTCCATCAGGAAGC 0.657 NaN 0 0 0 0.00278 0 20 83 QRICH2 84074 broad.mit.edu 37 17 74288992 74288992 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:74288992C>A uc002jrd.1 - 4 1498 c.1318G>T c.(1318-1320)GAT>TAT p.D440Y QRICH2_uc010wsz.1_Missense_Mutation_p.D366Y|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 440 Gln-rich. protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 ccagactgatccattccaggc 0.119 NaN 1 0 0.000442599 0.006214 0.000456911 9 20 TMC8 147138 broad.mit.edu 37 17 76134245 76134245 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:76134245C>T uc002jup.2 + 12 1891 c.1509C>T c.(1507-1509)CTC>CTT p.L503L TMC8_uc002juq.2_Silent_p.L280L|TMC8_uc010wtr.1_3'UTR|TMC8_uc002jur.1_5'UTR NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 503 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GCGTCTTCCTCTTCCTCACCT 0.617 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.00245 0 13 66 DNAH17 8632 broad.mit.edu 37 17 76430168 76430168 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:76430168T>C uc010dhp.1 - 20 3389 c.3167A>G c.(3166-3168)AAC>AGC p.N1056S DNAH17_uc002jvq.2_Missense_Mutation_p.N341S|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) GAGGTCCCCGTTGTTGAAGGG 0.567 NaN 0 0 0 0.013726 0 30 126 SLC38A10 124565 broad.mit.edu 37 17 79220205 79220205 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:79220205C>T uc002jzz.1 - 16 2886 c.2511G>A c.(2509-2511)CAG>CAA p.Q837Q SLC38A10_uc002jzy.1_Silent_p.Q755Q NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 837 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGCATCCTTCTGGCCATCTC 0.716 NaN 0 0 0 0.00308 0 7 25 SLC38A10 124565 broad.mit.edu 37 17 79257211 79257211 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:79257211G>A uc002jzz.1 - 4 730 c.355C>T c.(355-357)CAG>TAG p.Q119* SLC38A10_uc002jzy.1_Nonsense_Mutation_p.Q37*|SLC38A10_uc002kab.2_Nonsense_Mutation_p.Q119* NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 119 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) ATCCTTACCTGAAACCCGAAC 0.602 NaN 0 0 0 0.008291 0 9 12 ASPSCR1 79058 broad.mit.edu 37 17 79954451 79954451 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:79954451C>T uc002kcx.2 + 7 759 c.662C>T c.(661-663)TCA>TTA p.S221L ASPSCR1_uc002kcw.1_Missense_Mutation_p.S221L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.S221L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.S144L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.S144L NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 221 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 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) GCGGACACCTCAGGGCCCTGC 0.682 NaN T TFE3 alveolar soft part sarcoma 0 0 0 0.001168 0 6 23 TBCD 6904 broad.mit.edu 37 17 80899327 80899327 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:80899327C>T uc002kfz.2 + 38 3662 c.3532C>T c.(3532-3534)CTG>TTG p.L1178L TBCD_uc002kfy.1_Silent_p.L1216L|TBCD_uc002kgc.2_Silent_p.L297L|TBCD_uc002kgd.2_Silent_p.L170L NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 1178 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GTGTGACCTTCTGGGCGTACC 0.627 NaN 0 0 0 0.004672 0 3 8 YES1 7525 broad.mit.edu 37 18 724590 724590 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:724590T>C uc002kky.2 - 12 1687 c.1466A>G c.(1465-1467)TAC>TGC p.Y489C YES1_uc002kkz.2_Missense_Mutation_p.Y489C NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 489 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) CGGCATCCTGTATCCTCGCTC 0.413 NaN 0 0 0 0.00278 0 23 58 SMCHD1 23347 broad.mit.edu 37 18 2750410 2750410 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:2750410T>C uc002klm.3 + 32 4259 c.4070T>C c.(4069-4071)ATT>ACT p.I1357T SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1357 chromosome organization ATP binding 0 GGACCTATAATTAAGTTAATG 0.383 NaN 0 0 0 0.010729 0 11 29 AFG3L2 10939 broad.mit.edu 37 18 12337383 12337383 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:12337383C>G uc002kqz.1 - 16 2245 c.2132G>C c.(2131-2133)AGA>ACA p.R711T NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 711 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) AGCTACTGTTCTTTTATAAGC 0.393 NaN 0 0 0 0.00333 0 22 38 POTEC 388468 broad.mit.edu 37 18 14534973 14534973 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:14534973C>T uc010dln.2 - 4 1298 c.844G>A c.(844-846)GAA>AAA p.E282K POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 282 ANK 5. skin(3) 3 TGTTTTTGTTCATGTACGCCA 0.303 NaN 0 0 0 0.006214 0 5 56 C18orf8 29919 broad.mit.edu 37 18 21084405 21084405 + Nonsense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:21084405C>G uc010xax.1 + 2 294 c.173C>G c.(172-174)TCA>TGA p.S58* C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Nonsense_Mutation_p.S58*|C18orf8_uc010xaw.1_5'UTR|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 58 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) AATCCCATCTCATTTAGGTAA 0.378 NaN 0 0 0 0.013726 0 29 83 NPC1 4864 broad.mit.edu 37 18 21148963 21148963 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:21148963C>T uc002kum.3 - 4 562 c.288_splice c.e4-1 p.R96_splice NPC1_uc010xba.1_Splice_Site NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGATGGACATCTAAAGGAAAA 0.338 NaN 0 0 0 0.00308 0 6 16 ZNF521 25925 broad.mit.edu 37 18 22805190 22805190 + Nonsense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:22805190C>A uc002kvk.2 - 4 2939 c.2692G>T c.(2692-2694)GAA>TAA p.E898* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E898*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E678* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 898 C2H2-type 21; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGCAAAGTTTCCATAGTGTAG 0.502 NaN T PAX5 ALL 1 0 1.75199e-13 0.007291 1.88071e-13 29 35 KIAA1012 22878 broad.mit.edu 37 18 29419397 29419397 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:29419397C>G uc002kxc.3 - 27 4225 c.3861G>C c.(3859-3861)TTG>TTC p.L1287F KIAA1012_uc002kxb.3_Missense_Mutation_p.L1233F|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1287 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TGAAAAATTTCAATAGTTCCA 0.328 NaN 0 0 0 0.001855 0 13 44 KATNAL2 83473 broad.mit.edu 37 18 44595908 44595908 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr18:44595908C>T uc002lco.2 + 10 923 c.729C>T c.(727-729)TTC>TTT p.F243F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.F170F NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 315 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 AAACAACCTTCTTTAACATTT 0.378 NaN 0 0 0 0.004007 0 16 49 C19orf35 374872 broad.mit.edu 37 19 2276228 2276228 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:2276228G>A uc002lvn.2 - 4 973 c.873C>T c.(871-873)GCC>GCT p.A291A SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 291 pancreas(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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAACTTCAGGGCCGCGCTCA 0.726 NaN 0 0 0 0.001168 0 6 3 GTF2F1 2962 broad.mit.edu 37 19 6381161 6381161 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:6381161C>T uc002meq.2 - 10 1349 c.1064G>A c.(1063-1065)AGC>AAC p.S355N GTF2F1_uc010xjb.1_Missense_Mutation_p.S176N|GTF2F1_uc010xjc.1_Missense_Mutation_p.S270N NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 355 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GGAGGCCTCGCTGTCAATGTC 0.677 NaN 0 0 0 0.00308 0 7 7 TIMM44 10469 broad.mit.edu 37 19 7992108 7992108 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:7992108C>T uc002miz.2 - 13 1325 c.1323G>A c.(1321-1323)CTG>CTA p.L441L TIMM44_uc002mja.2_Silent_p.L181L|CTXN1_uc002miy.3_5'Flank NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 441 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CCGAGATGTCCAGGAGCCGCC 0.672 NaN 0 0 0 0.007413 0 19 21 MUC16 94025 broad.mit.edu 37 19 9057298 9057298 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:9057298C>T uc002mkp.2 - 3 30352 c.30148G>A c.(30148-30150)GTG>ATG p.V10050M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10052 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 AGTGAAGTCACAGAAAAAGAG 0.463 NaN 0 0 0 0.004007 0 16 24 MAN2B1 4125 broad.mit.edu 37 19 12758381 12758381 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:12758381G>A uc002mub.2 - 22 2772 c.2696C>T c.(2695-2697)TCG>TTG p.S899L MAN2B1_uc010dyv.1_Missense_Mutation_p.S898L NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 899 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CAGGTGCACCGAGGGCGGCAG 0.692 NaN 0 0 0 0.007291 0 27 23 TNPO2 30000 broad.mit.edu 37 19 12825962 12825962 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:12825962C>T uc002muo.2 - 8 855 c.670G>A c.(670-672)GAT>AAT p.D224N TNPO2_uc002mup.2_Missense_Mutation_p.D316N|TNPO2_uc002muq.2_Missense_Mutation_p.D224N|TNPO2_uc002mur.2_Missense_Mutation_p.D224N NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 224 HEAT 3. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GGGTCATCATCCACAGCCAGG 0.622 NaN 0 0 0 0.00278 0 18 27 RASAL3 64926 broad.mit.edu 37 19 15562677 15562677 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:15562677G>A uc002nbe.2 - 18 3051 c.2965C>T c.(2965-2967)CCA>TCA p.P989S WIZ_uc002nbb.3_5'Flank|RASAL3_uc002nbd.2_3'UTR|RASAL3_uc010eaa.1_Missense_Mutation_p.P403S NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 989 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CGCGTCCTTGGAGAAAGCTGC 0.602 NaN 0 0 0 0.007291 0 31 24 NDUFA13 51079 broad.mit.edu 37 19 19626839 19626839 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:19626839G>C uc010xqy.1 + 1 300 c.41G>C c.(40-42)AGA>ACA p.R14T TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Missense_Mutation_p.R14T|NDUFA13_uc010xqx.1_Missense_Mutation_p.R14T NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CTGGGCAAAAGAGGAGTAAAG 0.612 NaN 0 0 0 0.006122 0 18 20 RYR1 6261 broad.mit.edu 37 19 39068655 39068655 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:39068655G>A uc002oit.2 + 98 14400 c.14270G>A c.(14269-14271)CGC>CAC p.R4757H RYR1_uc002oiu.2_Missense_Mutation_p.R4752H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4757 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACAATGAGCGCAAGCCCAAC 0.632 NaN 0 0 0 0.004007 0 14 27 FCGBP 8857 broad.mit.edu 37 19 40366091 40366091 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:40366091A>G uc002omp.3 - 30 14151 c.14143T>C c.(14143-14145)TAC>CAC p.Y4715H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4715 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) GCTGCCACGTAGGTAGCCACT 0.662 NaN 0 0 0 0.010771 0 42 20 SHKBP1 92799 broad.mit.edu 37 19 41096303 41096303 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:41096303C>T uc002oob.2 + 16 1792 c.1743C>T c.(1741-1743)GCC>GCT p.A581A SHKBP1_uc002ooc.2_Silent_p.A556A|SHKBP1_uc002ood.2_Intron|SHKBP1_uc010xvl.1_Silent_p.A504A|SHKBP1_uc002ooe.2_Silent_p.A418A|SHKBP1_uc002oof.2_Silent_p.A418A|SHKBP1_uc010xvm.1_Silent_p.A361A|SHKBP1_uc010xvn.1_Silent_p.A459A|LTBP4_uc002oog.1_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 581 WD 5. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TAACCACCGCCATGGACGGCC 0.697 NaN 0 0 0 0.003954 0 23 12 CNFN 84518 broad.mit.edu 37 19 42891312 42891312 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:42891312C>T uc002otp.3 - 4 387 c.332G>A c.(331-333)CGA>CAA p.R111Q CNFN_uc002otq.3_Missense_Mutation_p.R124Q NM_032488 NP_115877 Q9BYD5 CNFN_HUMAN cornifelin 111 keratinization cornified envelope|cytoplasm 0 Prostate(69;0.00899) TCCTTACTCTCGGATCTTCAG 0.637 NaN 0 0 0 0.010504 0 18 16 ZNF226 7769 broad.mit.edu 37 19 44680458 44680458 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:44680458C>T uc002oyp.2 + 6 1187 c.1043C>T c.(1042-1044)TCA>TTA p.S348L ZNF226_uc002oyq.2_Missense_Mutation_p.S231L|ZNF226_uc002oyr.2_Missense_Mutation_p.S231L|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S348L|ZNF226_uc002oyt.2_Missense_Mutation_p.S348L NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 348 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGTCGTAGATCAGCACTTAAT 0.468 NaN 0 0 0 0.009718 0 43 28 CLPTM1 1209 broad.mit.edu 37 19 45477814 45477814 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:45477814A>G uc002pai.2 + 4 443 c.428A>G c.(427-429)GAC>GGC p.D143G CLPTM1_uc010ejv.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxf.1_Missense_Mutation_p.D41G|CLPTM1_uc010xxg.1_Missense_Mutation_p.D129G NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 143 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GAGAACTCAGACGGCTGCTAC 0.567 NaN 0 0 0 0.003271 0 33 27 CLPTM1 1209 broad.mit.edu 37 19 45477816 45477816 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:45477816G>A uc002pai.2 + 4 445 c.430G>A c.(430-432)GGC>AGC p.G144S CLPTM1_uc010ejv.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxf.1_Missense_Mutation_p.G42S|CLPTM1_uc010xxg.1_Missense_Mutation_p.G130S NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 144 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GAACTCAGACGGCTGCTACGA 0.572 NaN 0 0 0 0.013726 0 32 27 NUCB1 4924 broad.mit.edu 37 19 49422510 49422510 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:49422510G>T uc002plb.3 + 10 1041 c.969G>T c.(967-969)AGG>AGT p.R323S NUCB1_uc002pla.2_Missense_Mutation_p.R323S|NUCB1_uc002plc.2_Missense_Mutation_p.R323S|NUCB1_uc002pld.2_5'UTR NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 323 EF-hand 2. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CCACTCAGAGGAAGGAGTTTG 0.602 NaN 1 0 1.58986e-06 0.008291 1.66318e-06 7 65 TSKS 60385 broad.mit.edu 37 19 50243365 50243365 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:50243365C>T uc002ppm.2 - 10 1584 c.1573G>A c.(1573-1575)GAG>AAG p.E525K NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 525 protein binding large_intestine(1)|skin(1) 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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CGCAGGGCCTCGTCTTGGGCC 0.632 NaN 0 0 0 0.01441 0 68 35 NLRP2 55655 broad.mit.edu 37 19 55493759 55493759 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:55493759A>G uc002qij.2 + 6 779 c.693A>G c.(691-693)GCA>GCG p.A231A NLRP2_uc010yfp.1_Silent_p.A208A|NLRP2_uc010esn.2_Silent_p.A207A|NLRP2_uc010eso.2_Silent_p.A228A|NLRP2_uc010esp.2_Silent_p.A209A NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 231 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TAGACTGGGCAGAGGACAACC 0.577 NaN 0 0 0 0.009535 0 29 17 ZNF418 147686 broad.mit.edu 37 19 58441801 58441801 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:58441801G>A uc002qqs.1 - 3 420 c.128C>T c.(127-129)TCC>TTC p.S43F ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Intron NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CTTACCCAGGGAGGATATAAG 0.488 NaN 0 0 0 0.01441 0 70 47 ZNF606 80095 broad.mit.edu 37 19 58489802 58489802 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:58489802G>A uc002qqw.2 - 7 2864 c.2246C>T c.(2245-2247)TCT>TTT p.S749F ZNF606_uc010yhp.1_Missense_Mutation_p.S659F NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 749 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AATAAGGGAAGAATTCTTACA 0.373 NaN 0 0 0 0.01441 0 73 32 SNTG2 54221 broad.mit.edu 37 2 1133464 1133464 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:1133464T>C uc002qwq.2 + 6 508 c.380T>C c.(379-381)ATA>ACA p.I127T SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 127 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTTAATGGCATACATGTAGAA 0.269 NaN 0 0 0 0.00632 0 26 45 ALLC 55821 broad.mit.edu 37 2 3730543 3730543 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:3730543C>T uc010ewt.2 + 7 551 c.390C>T c.(388-390)GAC>GAT p.D130D NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 149 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TAAAATCCGACGACTGGAGTT 0.428 NaN HNSCC(21;0.051) 0 0 0 0.008361 0 30 96 FAM84A 151354 broad.mit.edu 37 2 14774914 14774914 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:14774914C>T uc002rbz.1 + 2 1053 c.811C>T c.(811-813)CGT>TGT p.R271C FAM84A_uc002rca.1_5'Flank NM_145175 NP_660158 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 271 pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) CGAGAAGCGCCGTATCGACGC 0.667 NaN 0 0 0 0.001168 0 5 30 MYCN 4613 broad.mit.edu 37 2 16082291 16082291 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:16082291C>T uc002rci.2 + 2 405 c.105C>T c.(103-105)TTC>TTT p.F35F MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.F27F NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 35 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) AAGATGACTTCTACTTCGGCG 0.647 NaN A neuroblastoma 0 0 0 0.006122 0 16 36 RAD51AP2 729475 broad.mit.edu 37 2 17697834 17697834 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:17697834A>G uc002rcl.1 - 1 1873 c.1849T>C c.(1849-1851)TAT>CAT p.Y617H RAD51AP2_uc010exn.1_Missense_Mutation_p.Y608H NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 617 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTTTTGGATACTTCAAATAA 0.269 NaN 0 0 0 0.00308 0 8 9 PUM2 23369 broad.mit.edu 37 2 20455083 20455083 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:20455083T>G uc002rds.1 - 17 2665 c.2642A>C c.(2641-2643)CAT>CCT p.H881P PUM2_uc002rdq.1_Missense_Mutation_p.H260P|PUM2_uc002rdt.1_Missense_Mutation_p.H881P|PUM2_uc002rdr.2_Missense_Mutation_p.H741P|PUM2_uc010yjy.1_Missense_Mutation_p.H802P|PUM2_uc002rdu.1_Missense_Mutation_p.H881P|PUM2_uc010yjz.1_Missense_Mutation_p.H820P NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 883 Pumilio 5.|PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCATAAGGATGAGTTGAAAG 0.383 NaN 0 0 0 0.00245 0 14 26 NCOA1 8648 broad.mit.edu 37 2 24905860 24905860 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:24905860G>A uc002rfk.2 + 6 653 c.395G>A c.(394-396)AGA>AAA p.R132K NCOA1_uc010eye.2_Missense_Mutation_p.R132K|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Missense_Mutation_p.R132K|NCOA1_uc002rfl.2_Missense_Mutation_p.R132K NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 132 PAS. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGAAGGGAGAATTGTATTT 0.368 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 0.013726 0 32 50 DTNB 1838 broad.mit.edu 37 2 25851188 25851188 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:25851188G>A uc002rgh.2 - 4 464 c.214C>T c.(214-216)CAT>TAT p.H72Y DTNB_uc010yko.1_Missense_Mutation_p.H15Y|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_Intron|DTNB_uc002rgi.2_Missense_Mutation_p.H72Y|DTNB_uc002rgj.2_Missense_Mutation_p.H72Y|DTNB_uc002rgk.2_Missense_Mutation_p.H72Y|DTNB_uc002rgl.2_Missense_Mutation_p.H72Y|DTNB_uc002rgq.2_Missense_Mutation_p.H72Y|DTNB_uc002rgm.2_Missense_Mutation_p.H72Y|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.H61Y|DTNB_uc010ykq.1_5'UTR NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 72 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGGTGGTATGGTCCAGTGTA 0.418 NaN 0 0 0 0.010729 0 12 34 OTOF 9381 broad.mit.edu 37 2 26703759 26703759 + Silent SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:26703759C>G uc002rhk.2 - 15 1825 c.1698G>C c.(1696-1698)CGG>CGC p.R566R OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 566 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCCGGGCCCGGAAGGACA 0.642 NaN 0 0 0 0.003954 0 25 41 OTOF 9381 broad.mit.edu 37 2 26739468 26739468 + Splice_Site SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:26739468C>G uc002rhk.2 - 5 455 c.328_splice c.e5-1 p.T110_splice OTOF_uc010ylb.1_Splice_Site NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGGCTGGTCTGAAGGGAGG 0.537 NaN 0 0 0 0.006214 0 10 82 PREB 10113 broad.mit.edu 37 2 27355129 27355129 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:27355129C>T uc002rix.1 - 6 1148 c.895G>A c.(895-897)GGC>AGC p.G299S PREB_uc002riy.1_Missense_Mutation_p.G227S|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 299 Cytoplasmic (Potential).|WD 3. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTTCATGGCCACAGGACTTG 0.612 NaN 0 0 0 0.003163 0 15 136 CAD 790 broad.mit.edu 37 2 27440858 27440858 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:27440858G>A uc002rji.2 + 2 358 c.196G>A c.(196-198)GAA>AAA p.E66K CAD_uc010eyw.2_Missense_Mutation_p.E66K NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 66 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCCCCCAGATGAAATGGATGA 0.502 NaN 0 0 0 0.00499 0 17 59 CAD 790 broad.mit.edu 37 2 27449800 27449800 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:27449800A>G uc002rji.2 + 15 2419 c.2257A>G c.(2257-2259)ACA>GCA p.T753A CAD_uc010eyw.2_Missense_Mutation_p.T690A NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 753 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCGAGTCAGCACAAAGATTGG 0.532 NaN 0 0 0 0.01441 0 44 97 LCLAT1 253558 broad.mit.edu 37 2 30790955 30790955 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:30790955G>C uc002rnj.2 + 6 864 c.655G>C c.(655-657)GCT>CCT p.A219P LCLAT1_uc010ymp.1_Missense_Mutation_p.A57P|LCLAT1_uc002rnk.1_Missense_Mutation_p.A219P|LCLAT1_uc002rnl.2_Missense_Mutation_p.A181P|LCLAT1_uc010ymq.1_Missense_Mutation_p.A181P NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 219 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 TAATGCATTTGCTGAAAAAAA 0.343 NaN 0 0 0 0.005443 0 25 46 GALM 130589 broad.mit.edu 37 2 38956810 38956810 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:38956810G>A uc002rqy.2 + 5 999 c.747G>A c.(745-747)AAG>AAA p.K249K NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 249 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) TCTGTCTGAAGGGATCTAAAG 0.438 NaN 0 0 0 0.008361 0 29 74 GALM 130589 broad.mit.edu 37 2 38958959 38958959 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:38958959G>A uc002rqy.2 + 6 1111 c.859G>A c.(859-861)GAT>AAT p.D287N NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 287 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) CAACTTCCTGGATGGCACATT 0.527 NaN 0 0 0 0.010818 0 31 66 MAP4K3 8491 broad.mit.edu 37 2 39664039 39664039 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:39664039G>A uc002rro.2 - 1 181 c.90C>T c.(88-90)GTC>GTT p.V30V MAP4K3_uc002rrp.2_Silent_p.V30V|uc002rrq.2_Intron|uc002rrr.1_5'Flank NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 30 Protein kinase.|ATP (By similarity). JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TTACCTTGTAGACGTCGCCGT 0.701 NaN 0 0 0 0.004482 0 8 14 C2orf61 285051 broad.mit.edu 37 2 47378469 47378469 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:47378469C>T uc002rvs.2 - 3 454 c.327G>A c.(325-327)AAG>AAA p.K109K C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Silent_p.K109K NM_173649 NP_775920 Q8N801 CB061_HUMAN hypothetical protein LOC285051 isoform 2 109 p.0?(2) 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCACTTGCTTCTTTAACAGGT 0.453 NaN 0 0 0 0.012213 0 32 72 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848387 48848387 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:48848387C>T uc010yol.1 + 4 2364 c.2317C>T c.(2317-2319)CAG>TAG p.Q773* STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.Q773*|GTF2A1L_uc002rws.1_Nonsense_Mutation_p.Q69*|GTF2A1L_uc010yom.1_Nonsense_Mutation_p.Q35*|GTF2A1L_uc002rwt.2_Nonsense_Mutation_p.Q69* NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 773 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTTACTCTTCAGTTGCCGCA 0.408 NaN 0 0 0 0.003163 0 15 27 NRXN1 9378 broad.mit.edu 37 2 50850596 50850596 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:50850596A>G uc010fbq.2 - 6 2566 c.1089T>C c.(1087-1089)TAT>TAC p.Y363Y NRXN1_uc002rxb.3_Silent_p.Y10Y|NRXN1_uc002rxe.3_Silent_p.Y330Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 142 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAAGATTGACATAATCAGCCG 0.433 NaN 0 0 0 0.01441 0 59 100 FAM161A 84140 broad.mit.edu 37 2 62067514 62067514 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:62067514C>T uc010ypo.1 - 3 727 c.625G>A c.(625-627)GAG>AAG p.E209K FAM161A_uc002sbm.3_Missense_Mutation_p.E209K|FAM161A_uc002sbn.3_Missense_Mutation_p.E19K|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.E100K NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 209 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 ATATAATCCTCAACACAAAAG 0.408 NaN 0 0 0 0.007413 0 17 106 OTX1 5013 broad.mit.edu 37 2 63283050 63283050 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:63283050C>A uc002scd.2 + 5 912 c.664C>A c.(664-666)CCC>ACC p.P222T OTX1_uc010ypt.1_Missense_Mutation_p.P156T NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 222 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) AGCCTCTTATCCCATGTCCTA 0.662 NaN 1 0 2.94398e-08 0.007413 3.09477e-08 20 36 MEIS1 4211 broad.mit.edu 37 2 66664922 66664922 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:66664922G>A uc002sdu.2 + 2 523 c.66G>A c.(64-66)ACG>ACA p.T22T MEIS1_uc002sdt.2_Silent_p.T22T|MEIS1_uc002sdv.2_Silent_p.T20T|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_5'Flank|MEIS1_uc002sdw.1_5'Flank NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 22 sequence-specific DNA binding transcription factor activity 0 TCCCCTCCACGATGTATGGGG 0.602 NaN 0 0 0 0.004007 0 14 37 ETAA1 54465 broad.mit.edu 37 2 67630885 67630885 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:67630885G>A uc002sdz.1 + 5 1210 c.1071G>A c.(1069-1071)GTG>GTA p.V357V NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 357 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 AATCATGTGTGACTTCCTGTA 0.353 NaN 0 0 0 0.00278 0 22 27 ETAA1 54465 broad.mit.edu 37 2 67630955 67630955 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:67630955G>A uc002sdz.1 + 5 1280 c.1141G>A c.(1141-1143)GAT>AAT p.D381N NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 381 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 TGATTTTGAGGATGATTGGGA 0.363 NaN 0 0 0 0.008361 0 28 46 PCBP1 5093 broad.mit.edu 37 2 70315790 70315790 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:70315790C>T uc002sgf.2 + 1 1206 c.915C>T c.(913-915)ATC>ATT p.I305I ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank NM_006196 NP_006187 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 305 KH 3. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding 0 TTAATGAGATCCGCCAGATGT 0.502 NaN 0 0 0 0.00333 0 25 39 HTRA2 27429 broad.mit.edu 37 2 74757805 74757805 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:74757805G>A uc002smi.1 + 2 1170 c.568G>A c.(568-570)GAT>AAT p.D190N AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.D190N|HTRA2_uc002smk.1_Missense_Mutation_p.D190N|HTRA2_uc002sml.1_Missense_Mutation_p.D190N|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 190 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GGTGGCTGCCGATGGGCTCAT 0.592 NaN 0 0 0 0.012319 0 22 50 LRRTM4 80059 broad.mit.edu 37 2 77745831 77745831 + Silent SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:77745831G>T uc002snr.2 - 3 1579 c.1164C>A c.(1162-1164)ACC>ACA p.T388T LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 388 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTTGAAGATGGTAGGTCTAG 0.473 NaN 1 0 6.72482e-11 0.003163 7.18314e-11 14 44 CAPG 822 broad.mit.edu 37 2 85629268 85629268 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:85629268T>C uc002spl.1 - 2 251 c.1A>G c.(1-3)ATG>GTG p.M1V CAPG_uc002spm.1_Missense_Mutation_p.M1V|CAPG_uc010ysq.1_Missense_Mutation_p.M1V|CAPG_uc010fgi.1_Missense_Mutation_p.M1V|CAPG_uc010fgj.1_5'Flank NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 1 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 GCTGTGTACATGCTGTCTTCA 0.522 NaN 0 0 0 0.004482 0 6 6 SMYD1 150572 broad.mit.edu 37 2 88402598 88402598 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:88402598G>A uc002ssr.2 + 7 912 c.910G>A c.(910-912)GAG>AAG p.E304K SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 AGTGGTGAAGGAGATGATACA 0.443 NaN 0 0 0 0.005443 0 25 49 TMEM182 130827 broad.mit.edu 37 2 103380863 103380863 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:103380863C>G uc010fjb.2 + 3 495 c.308C>G c.(307-309)TCG>TGG p.S103W TMEM182_uc002tcc.3_Missense_Mutation_p.S60W|TMEM182_uc002tcd.3_Missense_Mutation_p.S7W NM_144632 NP_653233 Q6ZP80 TM182_HUMAN transmembrane protein 182 precursor 103 Extracellular (Potential). integral to membrane 0 GAGCACAACTCGACCTCCTAT 0.483 NaN 0 0 0 0.006999 0 38 63 ANKRD57 65124 broad.mit.edu 37 2 110373335 110373335 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:110373335C>T uc002tfb.2 + 1 1425 c.1269C>T c.(1267-1269)CTC>CTT p.L423L SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN ankyrin repeat domain 57 423 0 CCTCGCATCTCATCACCTACA 0.627 NaN 0 0 0 0.003954 0 23 38 IL1A 3552 broad.mit.edu 37 2 113532667 113532667 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:113532667G>A uc002tig.2 - 7 1753 c.793C>T c.(793-795)CAG>TAG p.Q265* NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 265 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 TCCAGTATCTGAAAGTCAGTG 0.458 NaN 0 0 0 0.007413 0 18 42 BIN1 274 broad.mit.edu 37 2 127834283 127834283 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:127834283C>T uc002tns.1 - 2 430 c.85_splice c.e2-1 p.V29_splice BIN1_uc010yzf.1_Splice_Site_p.V5_splice|BIN1_uc010yzg.1_Splice_Site_p.V29_splice|BIN1_uc002tnu.1_Splice_Site_p.V29_splice|BIN1_uc002toa.1_Splice_Site_p.V29_splice|BIN1_uc002tnt.1_Splice_Site_p.V29_splice|BIN1_uc002tnv.1_Splice_Site_p.V29_splice|BIN1_uc002tnw.1_Splice_Site_p.V29_splice|BIN1_uc002tnx.1_Splice_Site_p.V29_splice|BIN1_uc002tny.1_Splice_Site_p.V29_splice|BIN1_uc002tnz.1_Splice_Site_p.V29_splice|BIN1_uc002tob.1_Splice_Site_p.V29_splice|BIN1_uc002toc.1_Splice_Site_p.V29_splice NM_139343 NP_647593 O00499 BIN1_HUMAN bridging integrator 1 isoform 1 cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus ovary(2)|central_nervous_system(2)|skin(2)|lung(1) 7 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TCTGGAGAACCTGCCGAAGCC 0.547 NaN 0 0 0 0.01441 0 51 79 MAP3K2 10746 broad.mit.edu 37 2 128093472 128093472 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:128093472T>C uc002toj.1 - 4 303 c.238A>G c.(238-240)ATG>GTG p.M80V MAP3K2_uc010flz.1_Missense_Mutation_p.M80V NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 80 OPR. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TGTAGATCCATAGACTGTCCA 0.323 NaN 0 0 0 0.009096 0 3 4 NCKAP5 344148 broad.mit.edu 37 2 133486457 133486457 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:133486457C>G uc002ttp.2 - 18 5886 c.5512G>C c.(5512-5514)GCT>CCT p.A1838P NCKAP5_uc002ttq.2_Missense_Mutation_p.A519P NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1838 protein binding 0 GGGTCTTCAGCATATCCGAAT 0.537 NaN 0 0 0 0.009718 0 43 205 RAB3GAP1 22930 broad.mit.edu 37 2 135922246 135922246 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:135922246C>T uc002tuj.2 + 23 2714 c.2689C>T c.(2689-2691)CTG>TTG p.L897L RAB3GAP1_uc010fnf.2_Silent_p.L897L|RAB3GAP1_uc010fng.2_Silent_p.L722L|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 897 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) CATTCACAAGCTGTTTGTGAA 0.493 NaN 0 0 0 0.010729 0 11 27 ZRANB3 84083 broad.mit.edu 37 2 135960517 135960517 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:135960517C>T uc002tum.2 - 20 3143 c.3026G>A c.(3025-3027)AGA>AAA p.R1009K ZRANB3_uc002tuk.2_Missense_Mutation_p.R552K|ZRANB3_uc002tul.2_Missense_Mutation_p.R1007K NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 1009 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) CCCTGGGTTTCTTATCATTTC 0.433 NaN 0 0 0 0.00308 0 8 22 SPOPL 339745 broad.mit.edu 37 2 139308578 139308578 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:139308578C>T uc002tvh.2 + 4 706 c.306C>T c.(304-306)TTC>TTT p.F102F NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 102 MATH. nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GAGCAAAATTCAAATTTTCCC 0.353 NaN 0 0 0 0.004656 0 24 56 GALNT5 11227 broad.mit.edu 37 2 158165086 158165086 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:158165086A>C uc002tzg.2 + 9 2783 c.2528A>C c.(2527-2529)CAA>CCA p.Q843P GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 843 Lumenal (Potential).|Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 CAGCTTCAACAATTTAATTAC 0.388 NaN 0 0 0 0.01441 0 117 248 BAZ2B 29994 broad.mit.edu 37 2 160257124 160257124 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:160257124G>A uc002uao.2 - 17 3236 c.2884C>T c.(2884-2886)CAG>TAG p.Q962* BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q926*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q792* NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 962 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AGAATTTGCTGAGCTCGAAGT 0.259 NaN 0 0 0 0.001984 0 7 15 COBLL1 22837 broad.mit.edu 37 2 165586561 165586561 + Missense_Mutation SNP T T C rs146685683 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:165586561T>C uc010zcw.1 - 5 578 c.454A>G c.(454-456)ACA>GCA p.T152A COBLL1_uc002ucp.2_Missense_Mutation_p.T99A|COBLL1_uc002ucq.2_Missense_Mutation_p.T99A|COBLL1_uc010zcx.1_Missense_Mutation_p.T145A|COBLL1_uc002ucs.1_RNA NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 137 ovary(2)|pancreas(1) 3 AGATCGATTGTGTAACTTGAT 0.343 NaN 0 0 0 0.010504 0 20 40 CSRNP3 80034 broad.mit.edu 37 2 166535631 166535631 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:166535631G>C uc002udf.2 + 7 1502 c.1126G>C c.(1126-1128)GAA>CAA p.E376Q CSRNP3_uc002udg.2_Missense_Mutation_p.E376Q NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 376 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 ggaggaggaagaagaagagga 0.423 NaN 0 0 0 0.004007 0 17 38 SCN1A 6323 broad.mit.edu 37 2 166900510 166900510 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:166900510C>T uc010zcz.1 - 11 1730 c.1712G>A c.(1711-1713)AGA>AAA p.R571K SCN1A_uc002udo.3_Missense_Mutation_p.R440K|SCN1A_uc010fpk.2_Missense_Mutation_p.R440K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 571 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) AAGGCTTGTTCTGCTATTTCG 0.438 NaN 0 0 0 0.004656 0 25 50 B3GALT1 8708 broad.mit.edu 37 2 168725897 168725897 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:168725897C>T uc002udz.1 + 2 699 c.348C>T c.(346-348)TTC>TTT p.F116F NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 116 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 CCACCCTGTTCCTCCTGGGCA 0.488 NaN 0 0 0 0.008871 0 18 33 LRP2 4036 broad.mit.edu 37 2 170175331 170175331 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:170175331G>C uc002ues.2 - 3 464 c.251C>G c.(250-252)TCC>TGC p.S84C LRP2_uc010zdf.1_Missense_Mutation_p.S84C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 84 LDL-receptor class A 2.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACACCCAGGAGTTGGGGAT 0.468 NaN 0 0 0 0.004482 0 7 71 RBM45 129831 broad.mit.edu 37 2 178977522 178977522 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:178977522G>A uc002ulv.2 + 1 341 c.249G>A c.(247-249)ATG>ATA p.M83I NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 83 RRM 1. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GCAGGGCCATGGAGGAGATGC 0.647 NaN 0 0 0 0.00632 0 25 58 TTN 7273 broad.mit.edu 37 2 179422796 179422796 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:179422796A>G uc010zfg.1 - 277 79805 c.79581T>C c.(79579-79581)ATT>ATC p.I26527I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I20222I|TTN_uc010zfi.1_Silent_p.I20155I|TTN_uc010zfj.1_Silent_p.I20030I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27454 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) TCTCAGCAGTAATTTCGGTAT 0.428 NaN 0 0 0 0.00623 0 37 80 TTN 7273 broad.mit.edu 37 2 179439443 179439443 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:179439443T>C uc010zfg.1 - 275 63936 c.63712A>G c.(63712-63714)AGA>GGA p.R21238G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14933G|TTN_uc010zfi.1_Missense_Mutation_p.R14866G|TTN_uc010zfj.1_Missense_Mutation_p.R14741G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22165 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) ACTCCATATCTATTCTGAGCT 0.463 NaN 0 0 0 0.003271 0 32 55 TTN 7273 broad.mit.edu 37 2 179650673 179650673 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:179650673G>C uc010zfg.1 - 14 2496 c.2272C>G c.(2272-2274)CAC>GAC p.H758D TTN_uc010zfh.1_Missense_Mutation_p.H712D|TTN_uc010zfi.1_Missense_Mutation_p.H712D|TTN_uc010zfj.1_Missense_Mutation_p.H712D|TTN_uc002unb.2_Missense_Mutation_p.H758D|TTN_uc010frg.1_Missense_Mutation_p.H340D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 758 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) GGGACAACGTGGGGTTCTGAG 0.488 NaN 0 0 0 0.00632 0 28 45 BMPR2 659 broad.mit.edu 37 2 203420156 203420156 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:203420156G>A uc002uzf.3 + 12 2916 c.1768G>A c.(1768-1770)GAA>AAA p.E590K BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 590 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 AATTAACTATGAACGACAGCA 0.463 NaN 0 0 0 0.014323 0 24 40 INO80D 54891 broad.mit.edu 37 2 206921331 206921331 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:206921331C>T uc002vaz.3 - 4 960 c.555G>A c.(553-555)GAG>GAA p.E185E NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 185 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CTTTTAAAATCTCTGTCTCTC 0.498 NaN 0 0 0 0.000602 0 5 14 TNS1 7145 broad.mit.edu 37 2 218762563 218762563 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:218762563C>G uc002vgt.2 - 6 524 c.126G>C c.(124-126)GAG>GAC p.E42D TNS1_uc002vgr.2_Missense_Mutation_p.E42D|TNS1_uc002vgs.2_Missense_Mutation_p.E42D|TNS1_uc010zjv.1_Missense_Mutation_p.E42D|TNS1_uc010fvj.1_Missense_Mutation_p.E110D|TNS1_uc010fvk.1_Missense_Mutation_p.E167D|TNS1_uc002vgu.3_Missense_Mutation_p.E73D|TNS1_uc002vgv.1_RNA NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 42 Phosphatase tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCTGCGCCACCTCACGGAGGT 0.572 NaN 0 0 0 0.008361 0 31 43 C2orf62 375307 broad.mit.edu 37 2 219229358 219229358 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:219229358T>C uc002vhr.2 + 7 667 c.638T>C c.(637-639)CTG>CCG p.L213P C2orf62_uc002vhs.2_Intron NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN hypothetical protein LOC375307 213 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) CAGCAAAACCTGGGCTTCCAG 0.562 NaN 0 0 0 0.004878 0 38 51 STK36 27148 broad.mit.edu 37 2 219537634 219537634 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:219537634C>G uc002viu.2 + 2 348 c.82C>G c.(82-84)CAG>GAG p.Q28E STK36_uc002viv.2_Missense_Mutation_p.Q28E|RNF25_uc002vit.2_5'Flank|RNF25_uc010fvw.2_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 28 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) ATACAGTGCTCAGGTGTTGCA 0.443 NaN 0 0 0 0.004289 0 37 54 CHPF 79586 broad.mit.edu 37 2 220406655 220406655 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:220406655C>T uc002vmc.3 - 2 798 c.571G>A c.(571-573)GAC>AAC p.D191N CHPF_uc010zlh.1_Missense_Mutation_p.D29N|CHPF_uc002vmd.3_Missense_Mutation_p.D191N|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 191 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CAGTCAAAGTCGTCGCCGTGC 0.687 NaN OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 12 18 SCG2 7857 broad.mit.edu 37 2 224463114 224463114 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:224463114C>T uc002vnm.2 - 2 1020 c.887G>A c.(886-888)CGG>CAG p.R296Q NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 296 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) ACTCTCTTTCCGAAGATCTTC 0.418 NaN 0 0 0 0.006122 0 18 136 SERPINE2 5270 broad.mit.edu 37 2 224849561 224849561 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:224849561C>T uc002vnu.2 - 5 1035 c.792G>A c.(790-792)CCG>CCA p.P264P SERPINE2_uc002vnt.2_Silent_p.P264P|SERPINE2_uc010zlr.1_Silent_p.P276P|SERPINE2_uc002vnv.2_Silent_p.P264P NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 264 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) TGGCAGACAGCGGAGTGGAGC 0.537 NaN 0 0 0 0.00499 0 18 37 SERPINE2 5270 broad.mit.edu 37 2 224856541 224856541 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:224856541G>T uc002vnu.2 - 4 907 c.664C>A c.(664-666)CAG>AAG p.Q222K SERPINE2_uc002vnt.2_Missense_Mutation_p.Q222K|SERPINE2_uc010zlr.1_Missense_Mutation_p.Q234K|SERPINE2_uc002vnv.2_Missense_Mutation_p.Q222K NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 222 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) ACGGAGAGCTGGGCCAGCATT 0.527 NaN 1 0 1.5842e-08 0.001855 1.67351e-08 14 42 COL4A3 1285 broad.mit.edu 37 2 228137702 228137702 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:228137702G>C uc002vom.1 + 26 1958 c.1796G>C c.(1795-1797)GGG>GCG p.G599A COL4A3_uc002von.1_Missense_Mutation_p.G599A|COL4A3_uc002voo.1_Missense_Mutation_p.G599A|COL4A3_uc002vop.1_Missense_Mutation_p.G599A|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 599 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGTCCTCCAGGGGATCCTGGC 0.557 NaN 0 0 0 0.005443 0 26 44 FBXO36 130888 broad.mit.edu 37 2 230787323 230787323 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:230787323C>G uc002vqa.2 + 1 117 c.94C>G c.(94-96)CAG>GAG p.Q32E TRIP12_uc002vpw.1_5'Flank|TRIP12_uc002vpx.1_5'Flank|TRIP12_uc002vpy.1_5'Flank|TRIP12_uc010zlz.1_5'Flank|TRIP12_uc010fxh.1_5'Flank|FBXO36_uc002vpz.2_Missense_Mutation_p.Q32E|FBXO36_uc002vqb.2_5'UTR|FBXO36_uc010fxi.1_Missense_Mutation_p.Q32E|FBXO36_uc002vqc.2_RNA NM_174899 NP_777559 Q8NEA4 FBX36_HUMAN F-box protein 36 32 ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) CACCCGGTCTCAGGCAAGTGC 0.612 NaN 0 0 0 0.010729 0 12 34 SP110 3431 broad.mit.edu 37 2 231035336 231035336 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:231035336C>T uc002vqh.3 - 17 2196 c.1956_splice c.e17+1 p.K652_splice SP110_uc002vqg.3_Splice_Site_p.K676_splice NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) ATGCTCTTTACCTTGTAAAAT 0.443 NaN 0 0 0 0.010729 0 10 25 SP140L 93349 broad.mit.edu 37 2 231222548 231222548 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:231222548G>A uc010fxm.1 + 3 227 c.136G>A c.(136-138)GAG>AAG p.E46K SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 46 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1) 1 GGATGTAGATGAGGGACTTGT 0.398 NaN 0 0 0 0.009535 0 27 188 PSMD1 5707 broad.mit.edu 37 2 231936987 231936987 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:231936987C>T uc002vrn.1 + 7 870 c.739C>T c.(739-741)CAG>TAG p.Q247* PSMD1_uc002vrm.1_Nonsense_Mutation_p.Q247*|PSMD1_uc010fxu.1_Nonsense_Mutation_p.Q111* NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 247 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GATGGCATATCAGATTTGTTT 0.403 NaN 0 0 0 0.01441 0 47 117 GIGYF2 26058 broad.mit.edu 37 2 233626135 233626135 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:233626135G>A uc002vti.3 + 10 858 c.521G>A c.(520-522)CGA>CAA p.R174Q GIGYF2_uc010zmj.1_Missense_Mutation_p.R174Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R174Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R174Q|GIGYF2_uc010zmk.1_RNA NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 174 Arg-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AAACCAGGACGAAAAGATGTA 0.378 NaN 0 0 0 0.00499 0 14 28 GIGYF2 26058 broad.mit.edu 37 2 233651882 233651882 + Silent SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:233651882T>G uc002vti.3 + 11 892 c.555T>G c.(553-555)GGT>GGG p.G185G GIGYF2_uc010zmj.1_Silent_p.G185G|GIGYF2_uc002vtg.2_Silent_p.G185G|GIGYF2_uc002vtj.3_Silent_p.G207G|GIGYF2_uc002vtk.3_Silent_p.G185G|GIGYF2_uc002vth.3_Silent_p.G185G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.G16G NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 185 Arg-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTGAGGAAGGTGGACCAACAT 0.383 NaN 0 0 0 0.008291 0 9 41 GIGYF2 26058 broad.mit.edu 37 2 233721509 233721509 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:233721509C>T uc002vti.3 + 31 4176 c.3839C>T c.(3838-3840)TCA>TTA p.S1280L GIGYF2_uc002vtj.3_Missense_Mutation_p.S1301L|GIGYF2_uc002vtk.3_Missense_Mutation_p.S1280L|GIGYF2_uc002vth.3_Missense_Mutation_p.S1274L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.S613L NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 1280 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCAGGATTTTCAGTCAATGCA 0.502 NaN 0 0 0 0.003271 0 32 66 DEFB127 140850 broad.mit.edu 37 20 139536 139536 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:139536C>T uc002wcy.1 + 2 171 c.171C>T c.(169-171)ATC>ATT p.I57I NM_139074 NP_620713 Q9H1M4 DB127_HUMAN defensin, beta 127 preproprotein 57 defense response to bacterium|innate immune response 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) GCCTCAATATCAAGGAACTGG 0.393 NaN 0 0 0 0.003163 0 12 14 ANGPT4 51378 broad.mit.edu 37 20 896835 896835 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:896835A>G uc002wei.2 - 1 126 c.23T>C c.(22-24)CTG>CCG p.L8P ANGPT4_uc010zpn.1_Missense_Mutation_p.L2P NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 8 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 GCTGCCCTGCAGCATGGCTAG 0.602 NaN 0 0 0 0.010504 0 17 42 SDCBP2 27111 broad.mit.edu 37 20 1291531 1291531 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:1291531T>C uc002wev.3 - 8 866 c.737A>G c.(736-738)AAA>AGA p.K246R SDCBP2_uc002weu.3_Missense_Mutation_p.K161R NM_080489 NP_536737 Q9H190 SDCB2_HUMAN syndecan binding protein 2 isoform a 246 PDZ 2. intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity large_intestine(1)|skin(1) 2 CATGATCTTTTTGTCCTAGGG 0.537 NaN 0 0 0 0.004482 0 9 20 RASSF2 9770 broad.mit.edu 37 20 4778713 4778713 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:4778713A>T uc002wld.2 - 3 132 c.78T>A c.(76-78)CAT>CAA p.H26Q RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.H26Q NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 26 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 AGGTCTTCAGATGCAAGAGAA 0.473 NaN 0 0 0 0.012319 0 17 40 MCM8 84515 broad.mit.edu 37 20 5966679 5966679 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:5966679C>T uc002wmi.2 + 16 2442 c.2065C>T c.(2065-2067)CTT>TTT p.L689F MCM8_uc002wmj.2_Missense_Mutation_p.L673F|MCM8_uc002wmk.2_Missense_Mutation_p.L729F|MCM8_uc002wml.2_Missense_Mutation_p.L689F|MCM8_uc010gbp.2_Missense_Mutation_p.L642F|MCM8_uc002wmm.2_Missense_Mutation_p.L227F NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 689 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 TGCTCGAGTTCTTCAAGATTT 0.463 NaN 0 0 0 0.004656 0 25 39 LRRN4 164312 broad.mit.edu 37 20 6025248 6025248 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:6025248G>C uc002wmo.2 - 4 1163 c.939C>G c.(937-939)CTC>CTG p.L313L NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 313 Extracellular (Potential). integral to membrane skin(3) 3 AACTGCAAGTGAGGGGGTTGC 0.483 NaN 0 0 0 0.000602 0 5 14 ESF1 51575 broad.mit.edu 37 20 13756530 13756530 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:13756530G>A uc002woj.2 - 3 1132 c.1024C>T c.(1024-1026)CGT>TGT p.R342C ESF1_uc002wok.1_Missense_Mutation_p.R342C NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 TCATCAGCACGAGGAGCATCT 0.368 NaN 0 0 0 0.009535 0 33 41 CRNKL1 51340 broad.mit.edu 37 20 20020280 20020280 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:20020280G>A uc002wrs.2 - 12 2033 c.2001C>T c.(1999-2001)ATC>ATT p.I667I NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 667 HAT 13. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 GTGGCTGACTGATGGCTAATT 0.378 NaN 0 0 0 0.00278 0 24 67 RALGAPA2 57186 broad.mit.edu 37 20 20493296 20493296 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:20493296C>T uc002wrz.2 - 32 4860 c.4717G>A c.(4717-4719)GAG>AAG p.E1573K RALGAPA2_uc010gcx.2_Missense_Mutation_p.E1277K|RALGAPA2_uc010zsg.1_Missense_Mutation_p.E1021K|RALGAPA2_uc002wsa.1_Missense_Mutation_p.E345K NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1573 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGGATATACTCATCCTCTTGA 0.468 NaN 0 0 0 0.001168 0 5 51 NAPB 63908 broad.mit.edu 37 20 23375803 23375803 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:23375803A>G uc002wta.2 - 4 432 c.315T>C c.(313-315)AAT>AAC p.N105N NAPB_uc002wtc.2_Intron|NAPB_uc002wtb.2_Silent_p.N109N|NAPB_uc002wtd.3_Intron|NAPB_uc010zss.1_5'UTR|NAPB_uc010zst.1_Silent_p.N66N NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 105 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) CGATGGCTGCATTTAAGCAGT 0.428 NaN 0 0 0 0.001855 0 12 17 CST4 1472 broad.mit.edu 37 20 23669392 23669392 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:23669392C>T uc002wto.1 - 1 271 c.215G>A c.(214-216)CGA>CAA p.R72Q NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 72 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CTCCCTGGCTCGCAGCACCTG 0.597 NaN 0 0 0 0.004482 0 9 43 VSX1 30813 broad.mit.edu 37 20 25059543 25059543 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:25059543G>T uc002wuf.2 - 3 584 c.549C>A c.(547-549)TTC>TTA p.F183L VSX1_uc002wue.2_RNA|VSX1_uc010gdd.1_Missense_Mutation_p.F183L|VSX1_uc010gde.1_RNA|VSX1_uc010gdf.1_Missense_Mutation_p.F183L|VSX1_uc002wug.1_Missense_Mutation_p.F183L NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN visual system homeobox 1 isoform a 183 Homeobox. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGCCTCGCTGAATGCCTTCT 0.567 NaN 1 0 1.62565e-12 0.012213 1.74076e-12 33 50 ZNF337 26152 broad.mit.edu 37 20 25657489 25657489 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:25657489C>T uc002wva.2 - 4 957 c.435G>A c.(433-435)AGG>AGA p.R145R uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.R113R|ZNF337_uc002wvb.2_Silent_p.R145R|ZNF337_uc002wvc.2_Silent_p.R145R NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACTGTTCCTCCTCCTTGAGC 0.443 NaN 0 0 0 0.004289 0 31 144 ID1 3397 broad.mit.edu 37 20 30193214 30193214 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:30193214C>T uc002wwg.1 + 1 123 c.24C>T c.(22-24)ACC>ACT p.T8T ID1_uc002wwh.1_Silent_p.T8T|hsa-mir-3193|MI0014238_5'Flank NM_002165 NP_002156 P41134 ID1_HUMAN inhibitor of DNA binding 1 isoform a 8 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GTGGCAGCACCGCCACCGCCG 0.622 NaN 0 0 0 0.006122 0 14 29 NFS1 9054 broad.mit.edu 37 20 34286483 34286483 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:34286483G>A uc002xdw.1 - 2 191 c.127C>T c.(127-129)CCC>TCC p.P43S NFS1_uc002xdt.1_5'UTR|NFS1_uc002xdu.1_5'UTR|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.P43S|NFS1_uc002xdx.2_Missense_Mutation_p.P43S|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 43 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GTATCTGCGGGAACCGCAGAC 0.542 NaN 0 0 0 0.00499 0 15 54 PHF20 51230 broad.mit.edu 37 20 34459579 34459579 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:34459579G>A uc002xek.1 + 9 1221 c.1110G>A c.(1108-1110)TTG>TTA p.L370L PHF20_uc002xei.1_Silent_p.L370L|PHF20_uc010gfo.1_Silent_p.L370L|PHF20_uc002xej.1_Silent_p.L254L NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) TAGGTCAGTTGAAGTCTGCTT 0.453 NaN 0 0 0 0.01441 0 57 72 PPP1R16B 26051 broad.mit.edu 37 20 37547047 37547047 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:37547047T>C uc002xje.2 + 11 1631 c.1442T>C c.(1441-1443)CTG>CCG p.L481P PPP1R16B_uc010ggc.2_Missense_Mutation_p.L439P NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 481 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CAGACGCTTCTGGAGCTGAAG 0.647 NaN 0 0 0 0.010818 0 31 50 FAM83D 81610 broad.mit.edu 37 20 37570635 37570635 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:37570635A>G uc002xjg.2 + 2 648 c.607A>G c.(607-609)ATC>GTC p.I203V FAM83D_uc002xjf.2_Missense_Mutation_p.I203V NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 173 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) GTTCACAGACATCGACATCTT 0.478 NaN 0 0 0 0.004656 0 25 58 SERINC3 10955 broad.mit.edu 37 20 43132519 43132519 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:43132519G>A uc002xme.2 - 8 1126 c.992C>T c.(991-993)TCT>TTT p.S331F SERINC3_uc002xmf.1_Missense_Mutation_p.S331F|SERINC3_uc010ggs.1_Missense_Mutation_p.S324F|SERINC3_uc010zwp.1_Missense_Mutation_p.S276F NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 331 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ATCCAGTAAAGACCCACTCTT 0.413 NaN 0 0 0 0.014323 0 23 40 CDH22 64405 broad.mit.edu 37 20 44803691 44803691 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:44803691G>A uc002xrm.2 - 11 2342 c.1941C>T c.(1939-1941)CTC>CTT p.L647L CDH22_uc010ghk.1_Silent_p.L647L NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 647 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGTGGCGCCTGAGGGTGAGGA 0.627 NaN 0 0 0 0.004656 0 23 25 NCOA3 8202 broad.mit.edu 37 20 46279830 46279830 + Silent SNP G G A rs147918555 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:46279830G>A uc002xtk.2 + 20 3961 c.3756G>A c.(3754-3756)CAG>CAA p.Q1252Q NCOA3_uc010ght.1_Silent_p.Q1243Q|NCOA3_uc002xtl.2_Silent_p.Q1248Q|NCOA3_uc002xtm.2_Silent_p.Q1247Q|NCOA3_uc002xtn.2_Silent_p.Q1251Q|NCOA3_uc010zyc.1_Silent_p.Q1047Q NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1252 Poly-Gln.|Acetyltransferase. 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 agcagcagcagcagcaacagc 0.289 NaN 0 0 0 0.009096 0 4 50 SULF2 55959 broad.mit.edu 37 20 46292924 46292924 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:46292924G>C uc002xto.2 - 15 2337 c.2007C>G c.(2005-2007)ACC>ACG p.T669T SULF2_uc002xtr.2_Silent_p.T669T|SULF2_uc002xtq.2_Silent_p.T669T|SULF2_uc010zyd.1_5'UTR NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 669 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CTTTGTGCTGGGTGTGGTAGC 0.602 NaN OREG0026005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 8 25 ATP9A 10079 broad.mit.edu 37 20 50255994 50255994 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:50255994C>T uc002xwg.1 - 15 1556 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 519 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 AGACTGGTCTCGGCCCACCAG 0.547 NaN OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 23 40 SALL4 57167 broad.mit.edu 37 20 50400861 50400861 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:50400861G>C uc002xwh.3 - 4 3206 c.3105C>G c.(3103-3105)GGC>GGG p.G1035G SALL4_uc010gii.2_Silent_p.G598G|SALL4_uc002xwi.3_Silent_p.G258G NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 1035 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTTTGGGAACGCCGTCAGTAG 0.517 NaN 0 0 0 0.014323 0 21 80 SLC17A9 63910 broad.mit.edu 37 20 61588228 61588228 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr20:61588228G>A uc002yea.3 + 2 355 c.171G>A c.(169-171)TGG>TGA p.W57* SLC17A9_uc002ydz.3_Nonsense_Mutation_p.W51*|SLC17A9_uc011aap.1_Nonsense_Mutation_p.W77* NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 57 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 ACTTCGGCTGGAACAAGAAGG 0.632 NaN 0 0 0 0.006214 0 9 32 TPTE 7179 broad.mit.edu 37 21 10934121 10934121 + Splice_Site SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:10934121C>G uc002yip.1 - 16 1225 c.857_splice c.e16-1 p.S286_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S268_splice|TPTE_uc002yir.1_Splice_Site_p.S248_splice|TPTE_uc010gkv.1_Splice_Site_p.S148_splice NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTCTTTCACCTAAAATAAAT 0.299 NaN 0 0 0 0.00278 0 22 163 MRPL39 54148 broad.mit.edu 37 21 26978900 26978900 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:26978900G>C uc002ylo.2 - 2 155 c.141C>G c.(139-141)CTC>CTG p.L47L MRPL39_uc002yln.2_Silent_p.L47L NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 47 mitochondrial ribosome nucleotide binding 0 CTTTATTAAAGAGATCATTCC 0.413 NaN 0 0 0 0.00308 0 7 48 GRIK1 2897 broad.mit.edu 37 21 30959910 30959910 + Splice_Site SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:30959910C>G uc002yno.1 - 12 2034 c.1570_splice c.e12-1 p.R524_splice GRIK1_uc002ynn.2_Splice_Site_p.R509_splice|GRIK1_uc011acs.1_Splice_Site_p.R524_splice|GRIK1_uc011act.1_Splice_Site_p.R385_splice|GRIK1_uc010glq.1_Splice_Site_p.R367_splice NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GGTCAGCCCTCTGCAAAAGCA 0.453 NaN 0 0 0 0.00308 0 8 15 C21orf59 56683 broad.mit.edu 37 21 33979964 33979964 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:33979964A>G uc002yqc.2 - 3 483 c.370T>C c.(370-372)TCT>CCT p.S124P C21orf59_uc002ypx.1_Missense_Mutation_p.S17P|C21orf59_uc002ypy.1_Missense_Mutation_p.S124P|C21orf59_uc002ypz.1_Missense_Mutation_p.S124P|C21orf59_uc010glx.2_Intron|C21orf59_uc002yqd.2_Missense_Mutation_p.S124P|C21orf59_uc002yqb.3_Missense_Mutation_p.S124P|C21orf59_uc011adr.1_Missense_Mutation_p.S68P NM_021254 NP_067077 P57076 CU059_HUMAN hypothetical protein LOC56683 124 cytosol|nucleus 0 CCAACCTTAGATATTATTGCT 0.249 NaN 0 0 0 0.00245 0 15 40 SYNJ1 8867 broad.mit.edu 37 21 34003938 34003938 + Silent SNP T T C rs61750219 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:34003938T>C uc002yqh.2 - 32 4206 c.4206A>G c.(4204-4206)CAA>CAG p.Q1402Q SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.Q1316Q|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1363 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 AAACATTACTTTGCGTTGCAG 0.448 NaN 0 0 0 0.013726 0 28 29 DOPEY2 9980 broad.mit.edu 37 21 37571421 37571421 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:37571421C>T uc002yvg.2 + 3 271 c.192C>T c.(190-192)AGC>AGT p.S64S DOPEY2_uc011aeb.1_Silent_p.S64S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 64 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TCCTCATCAGCAAAAGATTAG 0.458 NaN 0 0 0 0.007413 0 19 43 ZNF295 49854 broad.mit.edu 37 21 43413477 43413477 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:43413477G>A uc002zab.3 - 3 942 c.728C>T c.(727-729)TCA>TTA p.S243L ZNF295_uc002yzz.3_Missense_Mutation_p.S243L|ZNF295_uc002yzy.3_Missense_Mutation_p.S243L|ZNF295_uc002zaa.3_Missense_Mutation_p.S243L|ZNF295_uc010gov.1_Missense_Mutation_p.S243L|ZNF295_uc002zac.2_Missense_Mutation_p.S243L NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 243 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 CAGAGGCTTTGAAGGCAACAC 0.428 NaN 0 0 0 0.001855 0 14 17 TRAPPC10 7109 broad.mit.edu 37 21 45522807 45522807 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:45522807C>T uc002zea.2 + 22 3664 c.3495C>T c.(3493-3495)TTC>TTT p.F1165F TRAPPC10_uc010gpo.2_Silent_p.F876F|TRAPPC10_uc011afa.1_Silent_p.F543F NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1165 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TCAGGCTGTTCAAGTACCTCC 0.552 NaN 0 0 0 0.01441 0 41 75 POFUT2 23275 broad.mit.edu 37 21 46685469 46685469 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:46685469C>T uc002zhc.2 - 9 1243 c.1218G>A c.(1216-1218)ACG>ACA p.T406T POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_3'UTR NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 406 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) TGTTGTACGTCGTCTTGGGGT 0.527 NaN 0 0 0 0.00245 0 14 55 MCM3AP 8888 broad.mit.edu 37 21 47704198 47704198 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr21:47704198C>A uc002zir.1 - 1 1039 c.1003G>T c.(1003-1005)GGT>TGT p.G335C C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 335 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AATAAAGTACCTCCCCGGGGT 0.522 NaN 1 0 2.70662e-09 0.009535 2.86622e-09 33 124 P2RX6 9127 broad.mit.edu 37 22 21380552 21380552 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:21380552C>T uc010gsu.1 + 11 1062 c.1062C>T c.(1060-1062)TTC>TTT p.F354F P2RX6_uc002ztz.2_Silent_p.F328F|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 354 Helical; Name=2; (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 TCACCTTTTTCTGTGACCTGC 0.463 NaN 0 0 0 0.001984 0 6 7 CCDC116 164592 broad.mit.edu 37 22 21988323 21988323 + Nonsense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:21988323A>T uc002zve.2 + 3 178 c.85A>T c.(85-87)AAG>TAG p.K29* CCDC116_uc011aih.1_Nonsense_Mutation_p.K29* NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 29 ovary(1)|skin(1) 2 Colorectal(54;0.105) GCAGCTGCCCAAGAAGCCACT 0.637 NaN 0 0 0 0.007291 0 28 75 TOP3B 8940 broad.mit.edu 37 22 22322014 22322014 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:22322014C>T uc002zvs.2 - 8 1248 c.813G>A c.(811-813)CAG>CAA p.Q271Q TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.Q271Q|TOP3B_uc002zvt.3_Silent_p.Q271Q NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 271 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TTAAAAACATCTGTGCGATCT 0.502 NaN 0 0 0 0.003271 0 31 73 GGTLC2 91227 broad.mit.edu 37 22 22989480 22989480 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:22989480C>T uc010gtt.2 + 3 366 c.332C>T c.(331-333)CCG>CTG p.P111L LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.P111L NM_199127 NP_954578 Q14390 GGTL2_HUMAN gamma-glutamyltransferase-like 4 isoform 1 111 glutathione biosynthetic process gamma-glutamyltransferase activity ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23) READ - Rectum adenocarcinoma(21;0.145) TCAATGTGCCCGACGATCATG 0.652 NaN 0 0 0 0.003755 0 32 91 CARD10 29775 broad.mit.edu 37 22 37887821 37887821 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:37887821G>C uc003asx.1 - 19 2808 c.2805C>G c.(2803-2805)AAC>AAG p.N935K CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.N253K|CARD10_uc003asw.1_Missense_Mutation_p.N649K|CARD10_uc003asy.1_Missense_Mutation_p.N935K NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 935 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GGTAGATCTCGTTCTGCACCA 0.617 NaN 0 0 0 0.006214 0 7 55 GALR3 8484 broad.mit.edu 37 22 38220829 38220829 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:38220829C>G uc003aub.1 + 2 484 c.459C>G c.(457-459)TTC>TTG p.F153L NM_003614 NP_003605 O60755 GALR3_HUMAN galanin receptor 3 153 Helical; Name=4; (Potential). feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity 0 Melanoma(58;0.045) CGGCGCTCTTCTCGGCGCCCT 0.771 NaN 0 0 0 0.000602 0 4 11 PLA2G6 8398 broad.mit.edu 37 22 38541624 38541624 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:38541624C>T uc003auy.1 - 3 382 c.246G>A c.(244-246)GTG>GTA p.V82V PLA2G6_uc003auz.1_Silent_p.V82V|PLA2G6_uc003ava.1_Silent_p.V82V|PLA2G6_uc003avb.2_Silent_p.V82V|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.V82V NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 82 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) GATGGAAATTCACTAGGGCGT 0.572 NaN 0 0 0 0.007413 0 15 36 NPTXR 23467 broad.mit.edu 37 22 39239400 39239400 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:39239400G>A uc003awk.2 - 1 618 c.464C>T c.(463-465)ACC>ATC p.T155I NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 155 Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) CAGCTTGCCGGTGAGCTCACG 0.602 NaN 0 0 0 0.004672 0 3 10 EP300 2033 broad.mit.edu 37 22 41513289 41513289 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:41513289C>T uc003azl.3 + 2 588 c.193C>T c.(193-195)CAG>TAG p.Q65* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 65 Interaction with ALX1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TAATCAGCTTCAGACAAGTCT 0.418 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.008871 0 19 43 TCF20 6942 broad.mit.edu 37 22 42607770 42607770 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:42607770G>A uc003bcj.1 - 1 3676 c.3542C>T c.(3541-3543)TCC>TTC p.S1181F TCF20_uc003bck.1_Missense_Mutation_p.S1181F|TCF20_uc003bnt.2_Missense_Mutation_p.S1181F NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1181 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TAACTTCTGGGAGCCATGCTT 0.532 NaN 0 0 0 0.010504 0 22 59 TTLL12 23170 broad.mit.edu 37 22 43570524 43570524 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:43570524A>C uc003bdq.2 - 7 1047 c.1015T>G c.(1015-1017)TCA>GCA p.S339A TTLL12_uc003bdr.1_Missense_Mutation_p.S339A NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 339 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) TTGAAGTGTGAGAAGTTGAAG 0.657 NaN 0 0 0 0.010818 0 28 46 IL17REL 400935 broad.mit.edu 37 22 50436125 50436125 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:50436125C>T uc003bje.1 - 12 1098 c.866G>A c.(865-867)CGT>CAT p.R289H NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 289 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TGGGAAGCGACGCTGTTCGAA 0.527 NaN 0 0 0 0.003163 0 13 49 PANX2 56666 broad.mit.edu 37 22 50609337 50609337 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:50609337C>T uc003bjn.3 + 1 178 c.178C>T c.(178-180)CTG>TTG p.L60L PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Silent_p.L60L NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 60 Helical; (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CGGCACCGTGCTGGTGCCCAT 0.587 NaN 0 0 0 0.000602 0 4 12 CNTN6 27255 broad.mit.edu 37 3 1445006 1445006 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:1445006G>C uc003boz.2 + 23 3258 c.2991G>C c.(2989-2991)TTG>TTC p.L997F CNTN6_uc011asj.1_Missense_Mutation_p.L925F|CNTN6_uc003bpa.2_Missense_Mutation_p.L997F NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 997 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) TTGCAGGTTTGAGTTCCAGAG 0.303 NaN 0 0 0 0.010729 0 12 40 CRBN 51185 broad.mit.edu 37 3 3194143 3194143 + Missense_Mutation SNP G G C rs146272907 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:3194143G>C uc003bpq.2 - 10 1164 c.1145C>G c.(1144-1146)CCT>CGT p.P382R CRBN_uc003bpr.2_Missense_Mutation_p.P381R|CRBN_uc010hbw.2_Intron NM_016302 NP_057386 Q96SW2 CRBN_HUMAN cereblon 382 Thalidomide-binding. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding ovary(1) 1 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) ATATTACCCAGGAAACCAGCT 0.393 NaN 0 0 0 0.014323 0 22 37 ITPR1 3708 broad.mit.edu 37 3 4818947 4818947 + Splice_Site SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:4818947G>A uc003bqa.2 + 45 6385 c.6037_splice c.e45-1 p.N2013_splice ITPR1_uc010hca.1_Splice_Site_p.N1998_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.N983_splice NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCTTTGCTCAGAACTGCATAG 0.448 NaN 0 0 0 0.004672 0 3 4 ATP2B2 491 broad.mit.edu 37 3 10420033 10420033 + Silent SNP G G A rs147871544 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:10420033G>A uc003bvt.2 - 10 1543 c.1104C>T c.(1102-1104)GGC>GGT p.G368G ATP2B2_uc003bvv.2_Silent_p.G323G|ATP2B2_uc003bvw.2_Silent_p.G323G|ATP2B2_uc010hdo.2_Silent_p.G73G NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 368 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CGTCAGCGTCGCCGCCCTCGG 0.627 NaN 0 0 0 0.01441 0 50 72 TIMP4 7079 broad.mit.edu 37 3 12195844 12195844 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:12195844G>A uc003bwo.2 - 4 767 c.460C>T c.(460-462)CTG>TTG p.L154L SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN tissue inhibitor of metalloproteinase 4 154 NTR. metal ion binding|metalloendopeptidase inhibitor activity 0 CCACAGTTCAGATGGTAGTGA 0.473 NaN 0 0 0 0.01441 0 72 157 KCNH8 131096 broad.mit.edu 37 3 19436626 19436626 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:19436626C>T uc003cbk.1 + 7 1195 c.1000C>T c.(1000-1002)CGC>TGC p.R334C KCNH8_uc011awe.1_Missense_Mutation_p.R334C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 334 Helical; Voltage-sensor; Name=Segment S4; (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AAAGACAGTGCGCCTCTTGCG 0.478 NaN 0 0 0 0.01441 0 45 103 CMTM8 152189 broad.mit.edu 37 3 32280541 32280541 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:32280541G>A uc003cex.2 + 1 371 c.77G>A c.(76-78)AGC>AAC p.S26N CMTM8_uc010hfu.2_Missense_Mutation_p.S26N NM_178868 NP_849199 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 26 chemotaxis extracellular space|integral to membrane cytokine activity 0 TTCTCCACCAGCAGCAGCAGC 0.706 NaN 0 0 0 0.001168 0 5 6 UBP1 7342 broad.mit.edu 37 3 33434926 33434926 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:33434926C>T uc003cfq.3 - 14 1941 c.1411G>A c.(1411-1413)GAA>AAA p.E471K FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|UBP1_uc003cfr.3_Missense_Mutation_p.E435K|UBP1_uc010hga.2_Missense_Mutation_p.E471K NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 471 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 ATCATTTCTTCCAAGTAGATT 0.368 NaN 0 0 0 0.013537 0 12 32 CLASP2 23122 broad.mit.edu 37 3 33614729 33614729 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:33614729G>A uc003cfu.2 - 25 2926 c.2572C>T c.(2572-2574)CCT>TCT p.P858S CLASP2_uc003cfs.2_Missense_Mutation_p.P66S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.P459S NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 867 ovary(3)|central_nervous_system(1) 4 ATATATGTAGGAATACTACCA 0.433 NaN 0 0 0 0.01441 0 70 135 DLEC1 9940 broad.mit.edu 37 3 38157986 38157986 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:38157986A>G uc003cho.1 + 28 3920 c.3899A>G c.(3898-3900)GAA>GGA p.E1300G DLEC1_uc003chp.1_Missense_Mutation_p.E1300G|DLEC1_uc010hgv.1_Missense_Mutation_p.E1303G|DLEC1_uc003chr.1_Missense_Mutation_p.E371G|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1300 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAAGACAAGGAAGACCGGCTG 0.607 NaN 0 0 0 0.004656 0 18 50 TTC21A 199223 broad.mit.edu 37 3 39166997 39166997 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:39166997G>A uc003cjc.2 + 11 1567 c.1390G>A c.(1390-1392)GAG>AAG p.E464K TTC21A_uc003cje.2_Missense_Mutation_p.E464K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.E415K NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 464 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CATTGCTAAGGAGTACTTGCT 0.552 NaN 0 0 0 0.013726 0 28 96 ULK4 54986 broad.mit.edu 37 3 41831325 41831325 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:41831325C>T uc003ckv.3 - 21 2222 c.2021G>A c.(2020-2022)AGA>AAA p.R674K ULK4_uc003ckw.2_Missense_Mutation_p.R674K NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 674 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) GCGAGTGATTCTACACAAGGC 0.463 NaN 0 0 0 0.014323 0 20 43 DHX30 22907 broad.mit.edu 37 3 47883135 47883135 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:47883135G>A uc003cru.2 + 8 1123 c.697G>A c.(697-699)GAC>AAC p.D233N DHX30_uc003crs.2_Missense_Mutation_p.D194N|DHX30_uc003crt.2_Missense_Mutation_p.D194N|DHX30_uc010hjr.1_Missense_Mutation_p.D261N NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 233 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GACAGATGACGACAGTGCCAT 0.493 NaN 0 0 0 0.00632 0 30 54 RBM6 10180 broad.mit.edu 37 3 50012766 50012766 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:50012766C>T uc003cyc.2 + 5 1557 c.1424C>T c.(1423-1425)GCT>GTT p.A475V RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_5'UTR|RBM6_uc003cyd.2_5'UTR|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 475 RRM. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ATTCTTAATGCTTTTCGGACT 0.358 NaN 0 0 0 0.014323 0 22 59 RBM5 10181 broad.mit.edu 37 3 50145531 50145531 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:50145531A>G uc003cyg.2 + 13 1218 c.1070A>G c.(1069-1071)GAC>GGC p.D357G RBM5_uc011bdj.1_Missense_Mutation_p.D301G|RBM5_uc011bdk.1_Missense_Mutation_p.D185G NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 357 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCAGTGTTGACTACAGTTAT 0.403 NaN 0 0 0 0.012319 0 19 28 MAPKAPK3 7867 broad.mit.edu 37 3 50685459 50685459 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:50685459G>A uc003day.1 + 13 1727 c.1131G>A c.(1129-1131)CAG>CAA p.Q377Q MAPKAPK3_uc003daz.1_Silent_p.Q377Q|MAPKAPK3_uc003dba.1_Silent_p.Q377Q|MAPKAPK3_uc010hlr.1_Silent_p.Q377Q NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 377 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) CTGCCTCACAGGGCTGCAACA 0.572 NaN 0 0 0 0.008291 0 11 43 VPRBP 9730 broad.mit.edu 37 3 51464860 51464860 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:51464860T>G uc003dbe.1 - 12 1978 c.1810A>C c.(1810-1812)ATT>CTT p.I604L NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 604 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GCAATAGAAATAAGCTGCAAC 0.388 NaN 0 0 0 0.00278 0 20 35 ITIH1 3697 broad.mit.edu 37 3 52812034 52812034 + Splice_Site SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:52812034G>T uc003dfs.2 + 2 162 c.138_splice c.e2+1 p.T46_splice ITIH1_uc010hmn.1_Splice_Site NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGTGGACACCGTGAGTAAGAG 0.562 NaN 1 0 1.22674e-20 0.00874 1.32679e-20 33 71 PDE12 201626 broad.mit.edu 37 3 57545080 57545080 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:57545080G>A uc003diw.3 + 2 1478 c.1352G>A c.(1351-1353)TGT>TAT p.C451Y PDE12_uc003div.2_Missense_Mutation_p.C451Y NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 451 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) AAAAGGATATGTGTTGCTAAT 0.358 NaN 0 0 0 0.001855 0 13 67 MAGI1 9223 broad.mit.edu 37 3 65346992 65346992 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:65346992C>T uc003dmn.2 - 22 4042 c.3516G>A c.(3514-3516)GAG>GAA p.E1172E MAGI1_uc003dmm.2_Silent_p.E1200E|MAGI1_uc003dmo.2_Silent_p.E1201E|MAGI1_uc003dmp.2_Silent_p.E1105E NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1201 PDZ 6. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CACCATTGATCTCTAAAATTT 0.348 NaN 0 0 0 0.012319 0 21 30 SHQ1 55164 broad.mit.edu 37 3 72799820 72799820 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:72799820G>A uc003dpf.2 - 11 1456 c.1349C>T c.(1348-1350)TCC>TTC p.S450F SHQ1_uc010hod.2_Missense_Mutation_p.S361F NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 450 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CTCAGAGCTGGAGCAAAGTGT 0.478 NaN 0 0 0 0.004482 0 9 6 SHQ1 55164 broad.mit.edu 37 3 72897392 72897392 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:72897392C>T uc003dpf.2 - 1 207 c.100G>A c.(100-102)GAG>AAG p.E34K SHQ1_uc010hod.2_5'UTR NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 34 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TCAGACCCCTCGAAGTAGACG 0.592 NaN 0 0 0 0.01441 0 73 139 CNTN3 5067 broad.mit.edu 37 3 74350557 74350557 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:74350557T>C uc003dpm.1 - 15 2167 c.2087A>G c.(2086-2088)GAA>GGA p.E696G NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 696 cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACCTGCCTCTTCAGTTCTTAC 0.433 NaN 0 0 0 0.014323 0 19 62 CNTN3 5067 broad.mit.edu 37 3 74350587 74350587 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:74350587G>T uc003dpm.1 - 15 2137 c.2057C>A c.(2056-2058)CCA>CAA p.P686Q NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 686 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GGGTAAACTTGGTTCTCCACC 0.408 NaN 1 0 1.33834e-09 0.007413 1.419e-09 17 75 EPHA6 285220 broad.mit.edu 37 3 96706689 96706689 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:96706689T>C uc010how.1 + 3 1009 c.966T>C c.(964-966)TCT>TCC p.S322S EPHA6_uc003drp.1_Silent_p.S322S NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 227 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 ATTCCTCCTCTTTGGTTGAAG 0.473 NaN 0 0 0 0.01441 0 56 128 MORC1 27136 broad.mit.edu 37 3 108690187 108690187 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:108690187A>G uc003dxl.2 - 25 2627 c.2540T>C c.(2539-2541)TTA>TCA p.L847S MORC1_uc011bhn.1_Missense_Mutation_p.L826S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 847 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTCACAACTTAATGCAGGTTC 0.383 NaN 0 0 0 0.008361 0 28 76 TMPRSS7 344805 broad.mit.edu 37 3 111785291 111785291 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:111785291C>T uc010hqb.2 + 11 1400 c.1230C>T c.(1228-1230)CTC>CTT p.L410L TMPRSS7_uc011bhr.1_Silent_p.L265L NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 536 Extracellular (Potential).|LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 ATGGCCCTCTCATCTGTGATG 0.507 NaN 0 0 0 0.00623 0 32 232 TMPRSS7 344805 broad.mit.edu 37 3 111794272 111794272 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:111794272T>C uc010hqb.2 + 13 1680 c.1510T>C c.(1510-1512)TAC>CAC p.Y504H TMPRSS7_uc011bhr.1_Missense_Mutation_p.Y359H NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 630 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TGGATCTGCCTACTGTGGTGC 0.582 NaN 0 0 0 0.01441 0 63 489 BOC 91653 broad.mit.edu 37 3 113003353 113003353 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:113003353C>T uc003dzx.2 + 17 3446 c.2825C>T c.(2824-2826)TCG>TTG p.S942L BOC_uc003dzy.2_Missense_Mutation_p.S942L|BOC_uc003dzz.2_Missense_Mutation_p.S943L|BOC_uc003eab.2_Missense_Mutation_p.S643L|BOC_uc003eac.2_Missense_Mutation_p.S257L NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 942 Cytoplasmic (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GGCTGCCCCTCGGCTGCAGTG 0.647 NaN 0 0 0 0.009718 0 43 37 GOLGB1 2804 broad.mit.edu 37 3 121411211 121411211 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:121411211C>T uc003eei.3 - 14 7111 c.6985G>A c.(6985-6987)GAA>AAA p.E2329K GOLGB1_uc010hrc.2_Missense_Mutation_p.E2334K|GOLGB1_uc003eej.3_Missense_Mutation_p.E2295K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2329 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTACATTTTTCTAAAGAGTTA 0.373 NaN 0 0 0 0.010818 0 29 156 GOLGB1 2804 broad.mit.edu 37 3 121415253 121415253 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:121415253C>T uc003eei.3 - 13 4228 c.4102G>A c.(4102-4104)GAA>AAA p.E1368K GOLGB1_uc010hrc.2_Missense_Mutation_p.E1373K|GOLGB1_uc003eej.3_Missense_Mutation_p.E1334K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1254K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1332K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1368 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGCAGGCTTTCGGCATGGACT 0.398 NaN 0 0 0 0.01441 0 288 141 ITGB5 3693 broad.mit.edu 37 3 124487931 124487931 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:124487931G>A uc003eho.2 - 12 2243 c.1946C>T c.(1945-1947)TCT>TTT p.S649F ITGB5_uc010hrx.2_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 649 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) AGGTTTCCCAGAGTGGAGCAG 0.557 NaN 0 0 0 0.01441 0 138 46 ZNF148 7707 broad.mit.edu 37 3 124952081 124952081 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:124952081G>A uc003ehx.3 - 9 1975 c.1489C>T c.(1489-1491)CAG>TAG p.Q497* SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Nonsense_Mutation_p.Q497*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.Q497*|ZNF148_uc003eia.3_Nonsense_Mutation_p.Q497*|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 497 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 ACAGAAGGCTGAGAAGCTATG 0.438 NaN 0 0 0 0.01441 0 192 83 PLXNA1 5361 broad.mit.edu 37 3 126724992 126724992 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:126724992C>T uc003ejg.2 + 7 1903 c.1899C>T c.(1897-1899)TTC>TTT p.F633F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 656 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) CTGTGGACTTCGTCTTCTACA 0.607 NaN 0 0 0 0.010504 0 22 176 PLXNA1 5361 broad.mit.edu 37 3 126735421 126735421 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:126735421A>G uc003ejg.2 + 15 3011 c.3007A>G c.(3007-3009)ATC>GTC p.I1003V NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1026 IPT/TIG 2.|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) CAGCGCTCCCATCATCATCAA 0.632 NaN 0 0 0 0.006122 0 15 216 EEFSEC 60678 broad.mit.edu 37 3 128060247 128060247 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:128060247G>A uc003eki.2 + 5 996 c.958G>A c.(958-960)GAA>AAA p.E320K EEFSEC_uc003ekj.2_Missense_Mutation_p.E265K NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 320 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 CATCTCTGTGGAAAAGATACC 0.582 NaN 0 0 0 0.01441 0 56 254 PIK3R4 30849 broad.mit.edu 37 3 130405056 130405056 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:130405056A>G uc003enj.2 - 15 4055 c.3474T>C c.(3472-3474)ATT>ATC p.I1158I NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1158 WD 4. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TTAGCTTACCAATGCAGAGCC 0.428 NaN 0 0 0 0.005443 0 25 25 ACPP 55 broad.mit.edu 37 3 132071660 132071660 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:132071660G>A uc010htp.2 + 9 1051 c.961G>A c.(961-963)GAG>AAG p.E321K ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 321 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 ATTGTACTTTGAGAAGGGGTA 0.433 NaN 0 0 0 0.001855 0 14 29 CCRL1 51554 broad.mit.edu 37 3 132319410 132319410 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:132319410G>A uc003eow.2 + 2 252 c.169G>A c.(169-171)GCA>ACA p.A57T ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.A57T NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 57 Helical; Name=1; (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 CATTGGACTTGCAGGCAATTC 0.383 NaN 0 0 0 0.003954 0 20 23 TOPBP1 11073 broad.mit.edu 37 3 133339155 133339155 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:133339155T>G uc003eps.2 - 20 3347 c.3215A>C c.(3214-3216)CAG>CCG p.Q1072P TOPBP1_uc003ept.1_Missense_Mutation_p.Q76P NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1072 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 TAACTGCTTCTGAAAGTTCTC 0.398 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.004289 0 32 19 NCK1 4690 broad.mit.edu 37 3 136667120 136667120 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:136667120C>T uc003erh.2 + 4 1066 c.959C>T c.(958-960)TCA>TTA p.S320L NCK1_uc011bme.1_Missense_Mutation_p.S256L NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 320 SH2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TTCTCAGTATCACTAAAAGCA 0.308 NaN 0 0 0 0.013537 0 10 18 RAP2B 5912 broad.mit.edu 37 3 152880938 152880938 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:152880938G>A uc003ezr.2 + 1 910 c.456G>A c.(454-456)TCG>TCA p.S152S NM_002886 NP_002877 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family precursor 152 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity lung(2) 2 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACAAAGCCTCGGTAGACGAGC 0.642 NaN 0 0 0 0.000602 0 5 9 RPL22L1 200916 broad.mit.edu 37 3 170584195 170584195 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:170584195C>T uc003fhc.3 - 4 432 c.343G>A c.(343-345)GAA>AAA p.E115K RPL22L1_uc003fhb.3_RNA NM_001099645 NP_001093115 Q6P5R6 RL22L_HUMAN ribosomal protein L22-like 1 115 translation ribosome structural constituent of ribosome 0 all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GATTCATCTTCATCTTGACTA 0.393 NaN 0 0 0 0.000602 0 4 22 SLC2A2 6514 broad.mit.edu 37 3 170727792 170727792 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:170727792G>C uc003fhe.1 - 4 760 c.451C>G c.(451-453)CAT>GAT p.H151D SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Missense_Mutation_p.H24D NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 151 Extracellular (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) ATAAGTATATGAGATGGTCCC 0.289 NaN 0 0 0 0.001855 0 14 24 NCEH1 57552 broad.mit.edu 37 3 172365740 172365740 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:172365740G>C uc011bpx.1 - 2 537 c.399C>G c.(397-399)CCC>CCG p.P133P NCEH1_uc003fig.2_Silent_p.P133P|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 101 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 GTGGCTCTTCGGGCTTCGGAG 0.532 NaN 0 0 0 0.00499 0 16 46 GNB4 59345 broad.mit.edu 37 3 179119064 179119064 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:179119064T>C uc003fjv.3 - 10 1240 c.960A>G c.(958-960)GTA>GTG p.V320V GNB4_uc003fju.3_3'UTR NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 320 WD 7. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CATCATCAGTTACACCTAAGC 0.383 NaN 0 0 0 0.014323 0 20 29 FXR1 8087 broad.mit.edu 37 3 180630521 180630521 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:180630521C>T uc003fkq.2 + 1 70 c.48C>T c.(46-48)TAC>TAT p.Y16Y FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Silent_p.Y16Y|FXR1_uc011bqj.1_5'UTR|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Silent_p.Y16Y|FXR1_uc011bql.1_5'Flank NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 16 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGGCTTTCTACAAGGTACTGA 0.552 NaN OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 57 113 KLHL6 89857 broad.mit.edu 37 3 183209963 183209963 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:183209963G>A uc003flr.2 - 7 1676 c.1618C>T c.(1618-1620)CTG>TTG p.L540L KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 540 Kelch 5. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGGGTCACCAGGCACCAGCTG 0.632 NaN 0 0 0 0.00333 0 26 33 ABCC5 10057 broad.mit.edu 37 3 183665178 183665178 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:183665178C>T uc003fmg.2 - 23 3513 c.3348G>A c.(3346-3348)ATG>ATA p.M1116I ABCC5_uc011bqt.1_Missense_Mutation_p.M644I|ABCC5_uc010hxl.2_Missense_Mutation_p.M1073I NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1116 Helical; (Potential).|ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAAGAACGATCATCAGCCCCG 0.552 NaN 0 0 0 0.00499 0 16 23 CHRD 8646 broad.mit.edu 37 3 184099561 184099561 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:184099561C>T uc003fov.2 + 5 815 c.569C>T c.(568-570)TCG>TTG p.S190L CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.S190L|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 190 CHRD 1. 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) GCCCGAGTCTCGCTGCTGCGC 0.662 NaN 0 0 0 0.00245 0 13 26 VPS8 23355 broad.mit.edu 37 3 184612519 184612519 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:184612519A>G uc003fpb.1 + 22 1975 c.1804A>G c.(1804-1806)AAA>GAA p.K602E VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.K31E NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 604 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GATGTATGATAAATTAAGTGA 0.353 NaN 0 0 0 0.009096 0 3 14 OPA1 4976 broad.mit.edu 37 3 193372785 193372785 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:193372785C>T uc003ftm.2 + 20 2216 c.1982C>T c.(1981-1983)ACT>ATT p.T661I OPA1_uc003ftg.2_Missense_Mutation_p.T716I|OPA1_uc003fth.2_Missense_Mutation_p.T680I|OPA1_uc003fti.2_Missense_Mutation_p.T698I|OPA1_uc003ftj.2_Missense_Mutation_p.T679I|OPA1_uc003ftk.2_Missense_Mutation_p.T662I|OPA1_uc003ftl.2_Missense_Mutation_p.T643I|OPA1_uc003ftn.2_Missense_Mutation_p.T625I NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 661 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AAACAGTGGACTGATAAACAA 0.368 NaN 0 0 0 0.008871 0 14 27 ZNF595 152687 broad.mit.edu 37 4 86807 86807 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:86807G>T uc003fzv.1 + 6 1569 c.1413G>T c.(1411-1413)AAG>AAT p.K471N ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.K239N|ZNF595_uc011but.1_Missense_Mutation_p.K239N NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 471 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) ACGAACATAAGAAAATTCATA 0.388 NaN 1 0 0.00024832 0.009096 0.000257894 4 19 ZNF595 152687 broad.mit.edu 37 4 87051 87051 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:87051G>C uc003fzv.1 + 6 1813 c.1657G>C c.(1657-1659)GAA>CAA p.E553Q ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E321Q|ZNF595_uc011but.1_Missense_Mutation_p.E321Q NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 553 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGCCCTGAATGAACATAAGAA 0.378 NaN 0 0 0 0.008291 0 10 33 FAM193A 8603 broad.mit.edu 37 4 2664635 2664635 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:2664635G>A uc010icl.2 + 9 1294 c.943G>A c.(943-945)GAT>AAT p.D315N FAM193A_uc010ick.2_Missense_Mutation_p.D515N|FAM193A_uc003gfd.2_Missense_Mutation_p.D315N|FAM193A_uc011bvm.1_Missense_Mutation_p.D337N|FAM193A_uc011bvn.1_Missense_Mutation_p.D315N|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D169N NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 315 ovary(3) 3 GAGTAATTATGATGATACCGA 0.453 NaN 0 0 0 0.006122 0 18 45 JAKMIP1 152789 broad.mit.edu 37 4 6107461 6107461 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:6107461G>A uc003giu.3 - 3 639 c.363C>T c.(361-363)CGC>CGT p.R121R JAKMIP1_uc010idb.1_Silent_p.R121R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R121R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R121R|JAKMIP1_uc010ide.2_Silent_p.R121R NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 121 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CCGCGCCGTCGCGCAGCACGT 0.726 NaN 0 0 0 0.001984 0 6 11 ABLIM2 84448 broad.mit.edu 37 4 8021986 8021986 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:8021986C>T uc003gko.2 - 12 1356 c.1213G>A c.(1213-1215)GAC>AAC p.D405N ABLIM2_uc003gkk.2_Missense_Mutation_p.D68N|ABLIM2_uc003gkl.2_Intron|ABLIM2_uc003gkj.3_Missense_Mutation_p.D438N|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.D405N|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 405 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 GGCTTGCTGTCAGAGAGCACG 0.622 NaN 0 0 0 0.001984 0 7 27 FAM114A1 92689 broad.mit.edu 37 4 38916603 38916603 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:38916603G>C uc003gtn.2 + 8 1030 c.854G>C c.(853-855)AGA>ACA p.R285T FAM114A1_uc011byh.1_Missense_Mutation_p.R78T NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 285 cytoplasm ovary(1) 1 ACGATGGAGAGAACCGCGCAC 0.468 NaN 0 0 0 0.00245 0 13 21 N4BP2 55728 broad.mit.edu 37 4 40104102 40104102 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:40104102A>C uc003guy.3 + 4 975 c.637A>C c.(637-639)AAC>CAC p.N213H N4BP2_uc010ifq.2_Missense_Mutation_p.N133H|N4BP2_uc010ifr.2_Missense_Mutation_p.N133H NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 213 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TTTAAGTTTAAACCCATTACC 0.328 NaN 0 0 0 0.006214 0 10 19 UGT2A3 79799 broad.mit.edu 37 4 69796299 69796299 + Missense_Mutation SNP T T G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:69796299T>G uc003hef.2 - 5 1300 c.1269A>C c.(1267-1269)TTA>TTC p.L423F UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 423 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 AAGCCCTCAGTAAATCTTCGC 0.383 NaN 0 0 0 0.001855 0 13 71 UGT2B7 7364 broad.mit.edu 37 4 69962754 69962754 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:69962754C>T uc003heg.3 + 1 562 c.516C>T c.(514-516)CTC>CTT p.L172L UGT2B7_uc010ihq.2_Silent_p.L172L NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 172 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 TGTACAGTCTCAGCTTCTCTC 0.398 NaN 0 0 0 0.008871 0 19 65 FRAS1 80144 broad.mit.edu 37 4 79430001 79430001 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:79430001C>T uc003hlb.2 + 63 10061 c.9621C>T c.(9619-9621)CCC>CCT p.P3207P FRAS1_uc003hlc.1_Silent_p.P209P NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3202 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTCATTTCCCCAGATACGCTG 0.572 NaN 0 0 0 0.009096 0 4 13 FRAS1 80144 broad.mit.edu 37 4 79430151 79430151 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:79430151C>T uc003hlb.2 + 63 10211 c.9771C>T c.(9769-9771)GTC>GTT p.V3257V FRAS1_uc003hlc.1_Silent_p.V259V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3252 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCACCAGTGTCAACCACATGG 0.532 NaN 0 0 0 0.001855 0 12 48 TIGD2 166815 broad.mit.edu 37 4 90034836 90034836 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:90034836C>T uc003hsk.2 + 1 869 c.711C>T c.(709-711)TTC>TTT p.F237F FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 237 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) CCCGAGCATTCAAAGGCACTG 0.418 NaN 0 0 0 0.006214 0 10 32 BMPR1B 658 broad.mit.edu 37 4 96045003 96045003 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:96045003C>T uc003htm.3 + 7 666 c.392C>T c.(391-393)TCT>TTT p.S131F BMPR1B_uc010ilb.2_Missense_Mutation_p.S131F|BMPR1B_uc003htn.3_Missense_Mutation_p.S131F NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 131 Helical; (Potential). BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TTACTTATATCTGTGACTGTC 0.294 NaN 0 0 0 0.004289 0 30 71 ADH4 127 broad.mit.edu 37 4 100047780 100047780 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:100047780G>A uc003hun.2 - 8 1159 c.1083C>T c.(1081-1083)ATC>ATT p.I361I uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.I380I NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 361 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) ATGCCTCACTGATTTTGTCAA 0.353 NaN 0 0 0 0.014323 0 17 46 PPP3CA 5530 broad.mit.edu 37 4 101947192 101947192 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:101947192T>C uc011cen.1 - 14 2071 c.1396A>G c.(1396-1398)AAG>GAG p.K466E PPP3CA_uc003hvu.2_Missense_Mutation_p.K456E|PPP3CA_uc010ilj.2_Missense_Mutation_p.K414E|PPP3CA_uc003hvt.2_Missense_Mutation_p.K443E|PPP3CA_uc003hvs.2_Missense_Mutation_p.K399E|PPP3CA_uc010ilk.2_Missense_Mutation_p.K234E NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 466 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CTAGTGATCTTATGTTGTGGT 0.443 NaN 0 0 0 0.004007 0 14 42 NFKB1 4790 broad.mit.edu 37 4 103534637 103534637 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:103534637C>T uc011ceq.1 + 23 3112 c.2645C>T c.(2644-2646)ACC>ATC p.T882I NFKB1_uc011cep.1_Missense_Mutation_p.T883I|NFKB1_uc011cer.1_Missense_Mutation_p.T702I NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 882 Death.|Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) ATGGGCTACACCGAAGCAATT 0.562 NaN 0 0 0 0.009096 0 4 27 GAR1 54433 broad.mit.edu 37 4 110737358 110737358 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:110737358G>C uc003hzt.2 + 2 345 c.38G>C c.(37-39)CGA>CCA p.R13P GAR1_uc003hzu.2_Missense_Mutation_p.R13P|GAR1_uc010imh.1_Missense_Mutation_p.R13P|GAR1_uc010imi.2_Missense_Mutation_p.R13P NM_018983 NP_061856 Q9NY12 GAR1_HUMAN nucleolar protein family A, member 1 13 RGG-box 1. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding 0 GGCTTTAATCGAggtggtgga 0.234 NaN 0 0 0 0.012319 0 22 44 NAA15 80155 broad.mit.edu 37 4 140299923 140299923 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:140299923G>A uc003ihu.1 + 17 2326 c.2070G>A c.(2068-2070)TTG>TTA p.L690L NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 690 TPR 8. angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 AGTTTCTTTTGATGCTACAAT 0.338 NaN 0 0 0 0.013537 0 13 30 PRMT10 90826 broad.mit.edu 37 4 148605049 148605049 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:148605049C>T uc003ilc.2 - 1 232 c.90G>A c.(88-90)CAG>CAA p.Q30Q PRMT10_uc003ild.2_5'UTR NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 30 TPR 1. cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 GCTCTGCGCTCTGCAAGGACC 0.692 NaN 0 0 0 0.00245 0 15 34 DCHS2 54798 broad.mit.edu 37 4 155305519 155305519 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:155305519C>T uc003inw.2 - 2 234 c.234_splice c.e2+1 p.E78_splice DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 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) actgacctcacctcagtttcc 0 NaN 0 0 0 0.00245 0 11 32 FGB 2244 broad.mit.edu 37 4 155487699 155487699 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:155487699C>A uc003ioa.3 + 3 404 c.365C>A c.(364-366)CCA>CAA p.P122Q FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.P119Q|FGB_uc010ipv.2_Missense_Mutation_p.P60Q|FGB_uc010ipw.2_Missense_Mutation_p.P119Q|FGB_uc003ioc.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 122 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CAGGAAAGGCCAATCAGAAAT 0.418 NaN 1 0 0.000308642 0.003163 0.000319004 15 34 FNIP2 57600 broad.mit.edu 37 4 159747136 159747136 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:159747136G>A uc003iqe.3 + 2 359 c.176G>A c.(175-177)GGC>GAC p.G59D FNIP2_uc003iqd.2_Missense_Mutation_p.G59D NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 59 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) GACAGGAGAGGCAGACAAGTC 0.413 NaN 0 0 0 0.003755 0 36 81 FSTL5 56884 broad.mit.edu 37 4 162697045 162697045 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:162697045A>C uc003iqh.2 - 5 1027 c.591T>G c.(589-591)ATT>ATG p.I197M FSTL5_uc003iqi.2_Missense_Mutation_p.I196M|FSTL5_uc010iqv.2_Missense_Mutation_p.I196M NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 197 1 (Potential).|EF-hand 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTAGTTCATTAATATCTACAA 0.289 NaN 0 0 0 0.000602 0 4 27 NPY1R 4886 broad.mit.edu 37 4 164246583 164246583 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:164246583G>C uc003iqm.1 - 3 1293 c.1027C>G c.(1027-1029)CGG>GGG p.R343G NPY1R_uc011cjj.1_Missense_Mutation_p.R100G NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 343 Cytoplasmic (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCATCATCCCGAGACCGGAAA 0.393 NaN 0 0 0 0.007413 0 20 54 TRIM60 166655 broad.mit.edu 37 4 165961621 165961621 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:165961621A>G uc003iqy.1 + 3 567 c.397A>G c.(397-399)ATT>GTT p.I133V TRIM60_uc010iqx.1_Missense_Mutation_p.I133V NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 133 B box-type. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CATTTGCCCTATTAAGAAAGC 0.398 NaN 0 0 0 0.010729 0 11 26 SPOCK3 50859 broad.mit.edu 37 4 167921549 167921549 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:167921549G>A uc003iri.1 - 5 451 c.310C>T c.(310-312)CAA>TAA p.Q104* SPOCK3_uc011cjp.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.Q113*|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.Q53*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.Q12*|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Nonsense_Mutation_p.Q101*|SPOCK3_uc011cjw.1_RNA NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 104 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGAGAATCTTGAGCAATGCAT 0.378 NaN 0 0 0 0.010504 0 19 33 DDX60L 91351 broad.mit.edu 37 4 169296610 169296610 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:169296610C>T uc003irq.3 - 34 4772 c.4551G>A c.(4549-4551)ATG>ATA p.M1517I NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1517 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CAAAATCCTTCATTACTGCCA 0.408 NaN 0 0 0 0.000602 0 4 14 ODZ3 55714 broad.mit.edu 37 4 183267957 183267957 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:183267957A>G uc003ivd.1 + 2 423 c.386A>G c.(385-387)GAG>GGG p.E129G ODZ3_uc010irv.1_Missense_Mutation_p.E129G NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 129 Cytoplasmic (Potential).|Teneurin N-terminal. 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) ATGTCCCCAGAGCATGCCATG 0.557 NaN 0 0 0 0.001984 0 7 6 FAT1 2195 broad.mit.edu 37 4 187628629 187628629 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr4:187628629T>C uc003izf.2 - 2 2541 c.2353A>G c.(2353-2355)ACA>GCA p.T785A FAT1_uc010iso.1_Missense_Mutation_p.T785A NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 785 Extracellular (Potential).|Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TATTTGTCTGTTGTTTCACGG 0.433 NaN HNSCC(5;0.00058) 0 0 0 0.004656 0 26 85 KIAA0947 23379 broad.mit.edu 37 5 5460633 5460633 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:5460633G>A uc003jdm.3 + 13 1408 c.1186G>A c.(1186-1188)GAT>AAT p.D396N NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 396 ovary(1)|central_nervous_system(1) 2 TTCAGAAGATGATACAACTGA 0.373 NaN 0 0 0 0.009096 0 4 6 RICTOR 253260 broad.mit.edu 37 5 38963033 38963033 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:38963033G>C uc003jlp.2 - 17 1535 c.1511C>G c.(1510-1512)ACA>AGA p.T504R RICTOR_uc003jlo.2_Missense_Mutation_p.T504R|RICTOR_uc010ivf.2_Missense_Mutation_p.T219R NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 504 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTTCTGGTGTGTTGCAATTGC 0.368 NaN 0 0 0 0.014323 0 21 33 SLC38A9 153129 broad.mit.edu 37 5 54922436 54922436 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:54922436G>A uc003jqf.2 - 16 1773 c.1572C>T c.(1570-1572)CTC>CTT p.L524L SLC38A9_uc003jqd.2_Silent_p.L461L|SLC38A9_uc010ivx.2_Silent_p.L461L|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.L395L NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 524 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) TTATATAGATGAGAGATGGGT 0.398 NaN 0 0 0 0.004289 0 32 58 F2R 2149 broad.mit.edu 37 5 76028967 76028967 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:76028967G>T uc003ken.3 + 2 1182 c.917G>T c.(916-918)AGC>ATC p.S306I NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 306 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) GCCAACCGCAGCAAGAAGTCC 0.488 NaN 1 0 1.17739e-12 0.005443 1.26233e-12 28 31 ARSK 153642 broad.mit.edu 37 5 94891054 94891054 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:94891054G>A uc003kld.2 + 1 230 c.72G>A c.(70-72)CAG>CAA p.Q24Q ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_RNA|TTC37_uc003klb.2_5'Flank|TTC37_uc010jbf.1_5'Flank|ARSK_uc003klc.2_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 24 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CAGGGGAGCAGAGGCGGAGAG 0.697 NaN 0 0 0 0.001168 0 6 20 CHD1 1105 broad.mit.edu 37 5 98195774 98195774 + Splice_Site SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:98195774T>C uc003knf.2 - 32 4576 c.4428_splice c.e32-1 p.K1476_splice CHD1_uc010jbn.2_Splice_Site_p.K202_splice NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CACAGGTTTCTAGAAGAATTT 0.313 NaN 0 0 0 0.001984 0 7 31 SLC25A46 91137 broad.mit.edu 37 5 110091194 110091194 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:110091194A>G uc003koz.2 + 6 660 c.593A>G c.(592-594)CAA>CGA p.Q198R SLC25A46_uc011cvi.1_Missense_Mutation_p.Q107R NM_138773 NP_620128 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 198 transport integral to membrane|mitochondrial inner membrane 0 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) AGTCCTAAACAAATAGGAGAA 0.279 NaN 0 0 0 0.012319 0 16 39 APC 324 broad.mit.edu 37 5 112154981 112154981 + Nonsense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:112154981G>T uc010jby.2 + 10 1632 c.1252G>T c.(1252-1254)GAA>TAA p.E418* APC_uc011cvt.1_Nonsense_Mutation_p.E400*|APC_uc003kpz.3_Nonsense_Mutation_p.E418*|APC_uc003kpy.3_Nonsense_Mutation_p.E418*|APC_uc010jbz.2_Nonsense_Mutation_p.E135*|APC_uc010jca.2_5'Flank NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 418 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CGCTTACTGTGAAACCTGTTG 0.468 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 1 0 7.53189e-24 0.007835 8.1564e-24 36 30 CAMLG 819 broad.mit.edu 37 5 134074448 134074448 + Silent SNP G G A rs146867024 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:134074448G>A uc003kzt.2 + 1 243 c.138G>A c.(136-138)CGG>CGA p.R46R CAMLG_uc003kzu.2_Silent_p.R46R NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 46 Cytoplasmic (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) GCATCAACCGGATCATGGGCT 0.637 NaN 0 0 0 0.000602 0 5 44 CXCL14 9547 broad.mit.edu 37 5 134914132 134914132 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:134914132C>A uc003lay.2 - 2 663 c.198G>T c.(196-198)AAG>AAT p.K66N NM_004887 NP_004878 O95715 CXL14_HUMAN small inducible cytokine B14 precursor 66 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACATAACCATCTTCTCCTCGC 0.572 NaN 1 0 8.58068e-18 0.007291 9.26886e-18 29 66 APBB3 10307 broad.mit.edu 37 5 139938224 139938224 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:139938224G>C uc003lgd.1 - 12 1781 c.1422C>G c.(1420-1422)GTC>GTG p.V474V SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Silent_p.V246V|APBB3_uc003lgc.1_Silent_p.V246V|APBB3_uc003lge.1_Silent_p.V467V|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Silent_p.V246V NM_133172 NP_573418 O95704 APBB3_HUMAN amyloid beta precursor protein-binding, family 469 actin cytoskeleton|cytoplasm ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAAGAGAAGACACCCCGCT 0.597 NaN 0 0 0 0.006999 0 41 66 PCDHA10 56139 broad.mit.edu 37 5 140237513 140237513 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:140237513C>T uc003lhx.2 + 1 1880 c.1880C>T c.(1879-1881)ACG>ATG p.T627M 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_uc011dad.1_Missense_Mutation_p.T627M NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 627 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTGTACACGGGCGAGATC 0.647 NaN 0 0 0 0.003163 0 15 3 PCDHGB1 56104 broad.mit.edu 37 5 140730558 140730558 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:140730558A>G uc003ljo.1 + 1 731 c.731A>G c.(730-732)TAC>TGC p.Y244C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.Y244C NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 244 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) CAGGAGGTATACAGGGTTAGC 0.567 NaN 0 0 0 0.004007 0 16 46 PCDH1 5097 broad.mit.edu 37 5 141244801 141244801 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:141244801G>A uc003llq.2 - 3 1212 c.1095C>T c.(1093-1095)AAC>AAT p.N365N PCDH1_uc003llp.2_Silent_p.N365N|PCDH1_uc011dbf.1_Silent_p.N343N NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 365 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CACTCTTGGGGTTGGTGCCTC 0.577 NaN 0 0 0 0.014323 0 19 104 RBM27 54439 broad.mit.edu 37 5 145634557 145634557 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:145634557C>T uc003lnz.3 + 10 1662 c.1496C>T c.(1495-1497)TCT>TTT p.S499F RBM27_uc003lny.2_Missense_Mutation_p.S444F NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 499 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTACTAGTTCTGGTAGATCT 0.408 NaN 0 0 0 0.007413 0 16 31 GPR151 134391 broad.mit.edu 37 5 145895361 145895361 + Missense_Mutation SNP G G T rs147138565 byFrequency TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:145895361G>T uc003lod.1 - 1 316 c.316C>A c.(316-318)CTA>ATA p.L106I NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 106 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACCAGCCTAGATCCCAAACA 0.507 NaN 1 0 1.5842e-08 0.001855 1.67351e-08 14 60 PCYOX1L 78991 broad.mit.edu 37 5 148743624 148743624 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:148743624G>C uc003lqk.2 + 3 383 c.321G>C c.(319-321)GTG>GTC p.V107V PCYOX1L_uc003lql.2_Silent_p.V90V|PCYOX1L_uc010jgz.2_Silent_p.V90V|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_Silent_p.V17V NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 107 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGGTGGTGGGCAGGAGCG 0.617 NaN 0 0 0 0.013537 0 11 60 ZNF300 91975 broad.mit.edu 37 5 150275006 150275006 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:150275006G>A uc003lsy.1 - 6 2062 c.1795C>T c.(1795-1797)CAC>TAC p.H599Y IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 599 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCACTGTGTGAATTCTCTGG 0.388 NaN 0 0 0 0.00308 0 7 46 NMUR2 56923 broad.mit.edu 37 5 151784387 151784387 + Silent SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:151784387G>T uc003luv.2 - 1 454 c.288C>A c.(286-288)CTC>CTA p.L96L NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 96 Helical; Name=2; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GCATTCCAAGGAGCAGGACCA 0.577 NaN 1 0 1.90571e-15 0.004289 2.04828e-15 33 65 LSM11 134353 broad.mit.edu 37 5 157171172 157171172 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:157171172G>A uc003lxe.1 + 1 418 c.414G>A c.(412-414)AGG>AGA p.R138R NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 138 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCGGAGCAGGAAGGCGCCAC 0.751 NaN 0 0 0 0.004672 0 3 4 ATP10B 23120 broad.mit.edu 37 5 160033923 160033923 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:160033923C>G uc003lym.1 - 19 3856 c.3009G>C c.(3007-3009)TTG>TTC p.L1003F ATP10B_uc010jit.1_Missense_Mutation_p.L320F NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1003 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATGGCATTCAATGTCTTCC 0.512 NaN 0 0 0 0.00245 0 12 88 HMMR 3161 broad.mit.edu 37 5 162894721 162894721 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:162894721G>A uc003lzf.2 + 4 419 c.237G>A c.(235-237)AAG>AAA p.K79K HMMR_uc003lzh.2_Silent_p.K80K|HMMR_uc003lzg.2_Intron|HMMR_uc011dem.1_Intron NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 79 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) AATCTCAAAAGAATGATAAAG 0.294 NaN 0 0 0 0.004672 0 3 19 SLIT3 6586 broad.mit.edu 37 5 168175367 168175367 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:168175367C>T uc003mab.2 - 20 2630 c.2210G>A c.(2209-2211)CGA>CAA p.R737Q SLIT3_uc010jjg.2_Missense_Mutation_p.R737Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 737 LRRNT 4. 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) GTTGCTGCATCGCACCACTGT 0.642 NaN 0 0 0 0.004289 0 36 64 TLX3 30012 broad.mit.edu 37 5 170736467 170736467 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:170736467C>T uc003mbf.2 + 1 180 c.98C>T c.(97-99)CCC>CTC p.P33L uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 33 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GACAGCGCACCCGCCCCGCGG 0.751 NaN T BCL11B T-ALL 0 0 0 0.004672 0 3 12 RPL26L1 51121 broad.mit.edu 37 5 172386963 172386963 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:172386963C>T uc003mcc.2 + 2 129 c.87C>T c.(85-87)ATC>ATT p.I29I LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 29 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAGGAAGATCATGTCATCCC 0.577 NaN 0 0 0 0.003271 0 31 87 RGS14 10636 broad.mit.edu 37 5 176798587 176798587 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:176798587G>A uc003mgf.2 + 14 1677 c.1495G>A c.(1495-1497)GAA>AAA p.E499K RGS14_uc003mgh.2_Missense_Mutation_p.E347K|RGS14_uc003mgi.2_Missense_Mutation_p.E270K|RGS14_uc003mgj.2_RNA NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 499 GoLoco. chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CTGTGACATCGAAGGTACATG 0.587 NaN 0 0 0 0.00623 0 40 58 F12 2161 broad.mit.edu 37 5 176831015 176831015 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:176831015C>T uc003mgo.3 - 10 1144 c.1095G>A c.(1093-1095)AAG>AAA p.K365K F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 365 Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) AAGACAGACTCTTGCGGAGCC 0.701 NaN Hereditary_Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 8 31 MAML1 9794 broad.mit.edu 37 5 179195951 179195951 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:179195951A>G uc003mkm.2 + 3 2095 c.1832A>G c.(1831-1833)TAT>TGT p.Y611C MAML1_uc003mkn.1_Missense_Mutation_p.Y611C NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 611 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTCCCCCTATCTCAGCAGC 0.572 NaN 0 0 0 0.01441 0 55 83 TRIM41 90933 broad.mit.edu 37 5 180660709 180660709 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr5:180660709C>T uc003mne.1 + 5 1931 c.1237C>T c.(1237-1239)CTG>TTG p.L413L TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.L413L|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_5'UTR NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 413 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCATGACTTCCTGACAGATGC 0.602 NaN 0 0 0 0.004007 0 15 51 PHACTR1 221692 broad.mit.edu 37 6 13206114 13206114 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:13206114A>G uc010jpc.2 + 8 1064 c.732A>G c.(730-732)AAA>AAG p.K244K PHACTR1_uc011dir.1_Silent_p.K313K|PHACTR1_uc003nag.1_Silent_p.K244K|PHACTR1_uc003nah.1_Silent_p.K244K NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 244 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CTCCAAAGAAAGTCATGATCT 0.592 NaN 0 0 0 0.010818 0 28 33 PPP1R10 5514 broad.mit.edu 37 6 30569384 30569384 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:30569384C>T uc003nqn.1 - 20 3317 c.2765G>A c.(2764-2766)CGC>CAC p.R922H PPP1R10_uc010jsc.1_Missense_Mutation_p.R576H NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 922 C3H1-type. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 GTTCTCATAGCGGCAGTTGCC 0.552 NaN 0 0 0 0.00245 0 12 14 VARS2 57176 broad.mit.edu 37 6 30884903 30884903 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:30884903G>A uc003nsc.1 + 8 1407 c.775G>A c.(775-777)GAA>AAA p.E259K VARS2_uc003nsd.2_Missense_Mutation_p.E259K|VARS2_uc011dmx.1_Missense_Mutation_p.E259K|VARS2_uc011dmy.1_Missense_Mutation_p.E119K|VARS2_uc011dmz.1_Missense_Mutation_p.E289K|VARS2_uc011dna.1_Missense_Mutation_p.E259K|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank|VARS2_uc010jsg.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 259 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GGCTGTGACTGAAGCTTTTGT 0.547 NaN 0 0 0 0.011902 0 43 37 C6orf47 57827 broad.mit.edu 37 6 31627076 31627076 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:31627076G>C uc003nvm.1 - 1 1474 c.649C>G c.(649-651)CTC>GTC p.L217V NM_021184 NP_067007 O95873 CF047_HUMAN G4 protein 217 ovary(1) 1 TGTAGCCAGAGGCCCAGCGGT 0.637 NaN 0 0 0 0.00499 0 16 18 HLA-DQB1 3119 broad.mit.edu 37 6 32632653 32632653 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:32632653C>T uc003obw.2 - 2 383 c.301G>A c.(301-303)GAG>AAG p.E101K HLA-DQB1_uc010juc.1_Missense_Mutation_p.E56K|HLA-DQB1_uc003obv.2_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.E101K|HLA-DQB1_uc011dqe.1_Missense_Mutation_p.E101K NM_002123 NP_002114 P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ 101 Extracellular (Potential).|Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGGGTCCCCTCCAGGACTTCC 0.672 NaN Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome 0 0 0 0.008291 0 3 3 TAP1 6890 broad.mit.edu 37 6 32815407 32815407 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:32815407G>A uc003ocg.2 - 9 2121 c.1966C>T c.(1966-1968)CAA>TAA p.Q656* PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395* NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 656 Cytoplasmic (Potential).|ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 ATATTTTCTTGAAGACTTCTT 0.468 NaN 0 0 0 0.006122 0 17 25 HLA-DMB 3109 broad.mit.edu 37 6 32908579 32908579 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:32908579G>A uc003ocl.1 - 1 239 c.6C>T c.(4-6)ATC>ATT p.I2I HLA-DMB_uc003ocj.1_Silent_p.I2I|HLA-DMB_uc011dql.1_Silent_p.I2I NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 2 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 GCAGGAATGTGATCATGCTCT 0.622 NaN 0 0 0 0.004672 0 3 6 ZBTB22 9278 broad.mit.edu 37 6 33284074 33284074 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:33284074T>C uc003oeb.2 - 2 772 c.620A>G c.(619-621)AAC>AGC p.N207S TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.N207S NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCTGAAGTAGTTGCTGCTGCT 0.627 NaN 0 0 0 0.006122 0 19 17 KIFC1 3833 broad.mit.edu 37 6 33371898 33371898 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:33371898G>A uc003oef.3 + 6 1198 c.748G>A c.(748-750)GAG>AAG p.E250K KIFC1_uc011drf.1_Missense_Mutation_p.E242K NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 250 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CCAACTAGAGGAGAAGGAGGT 0.572 NaN 0 0 0 0.004007 0 14 16 C6orf222 389384 broad.mit.edu 37 6 36287385 36287385 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:36287385G>A uc003oly.2 - 11 1849 c.1671C>T c.(1669-1671)ATC>ATT p.I557I NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 557 skin(2)|ovary(1)|breast(1) 4 GGTGGCGCCTGATCTGGAAGT 0.582 NaN 0 0 0 0.012319 0 19 34 ROS1 6098 broad.mit.edu 37 6 117631384 117631384 + Silent SNP C C A rs148504976 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:117631384C>A uc003pxp.1 - 40 6493 c.6294G>T c.(6292-6294)GTG>GTT p.V2098V ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2098 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.V2098V(1) lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTCCAATCTTCACTATCCGTG 0.408 NaN T GOPC|ROS1 glioblastoma|NSCLC 1 0 1.51943e-15 0.01441 1.63514e-15 45 37 ROS1 6098 broad.mit.edu 37 6 117683996 117683996 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:117683996T>C uc003pxp.1 - 21 3350 c.3151A>G c.(3151-3153)ATA>GTA p.I1051V ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1051 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTTGGTAATATAAATATTCTG 0.348 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.001855 0 14 11 TRMT11 60487 broad.mit.edu 37 6 126320655 126320655 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:126320655A>G uc003qam.2 + 7 696 c.575A>G c.(574-576)CAC>CGC p.H192R TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.H192R NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 192 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) AAAAAGAGACACTTTATTGGA 0.338 NaN 0 0 0 0.010818 0 32 16 SAMD3 154075 broad.mit.edu 37 6 130465682 130465682 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:130465682G>T uc003qbv.2 - 13 1872 c.1546C>A c.(1546-1548)CAG>AAG p.Q516K SAMD3_uc003qbx.2_Missense_Mutation_p.Q516K|SAMD3_uc003qbw.2_Missense_Mutation_p.Q516K NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 516 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AGTGGGTGCTGAAATCCTACT 0.368 NaN 1 0 3.07112e-06 0.010729 3.20885e-06 9 26 EPB41L2 2037 broad.mit.edu 37 6 131216209 131216209 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:131216209G>C uc003qch.2 - 9 1469 c.1287C>G c.(1285-1287)CTC>CTG p.L429L EPB41L2_uc003qcg.1_Silent_p.L429L|EPB41L2_uc011eby.1_Silent_p.L429L|EPB41L2_uc003qci.2_Silent_p.L429L|EPB41L2_uc010kfk.2_Silent_p.L429L|EPB41L2_uc010kfl.1_Silent_p.L429L NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 429 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTTTGTAAATGAGAAGTCCAT 0.423 NaN 0 0 0 0.01441 0 49 34 UTRN 7402 broad.mit.edu 37 6 144898326 144898326 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:144898326G>A uc003qkt.2 + 50 7473 c.7381G>A c.(7381-7383)GAA>AAA p.E2461K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2461 Spectrin 17. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GTGGATCCAAGAAGCAGAGAC 0.512 NaN 0 0 0 0.014323 0 22 20 TIAM2 26230 broad.mit.edu 37 6 155561805 155561805 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:155561805A>G uc003qqb.2 + 18 4583 c.3310A>G c.(3310-3312)ATC>GTC p.I1104V TIAM2_uc003qqe.2_Missense_Mutation_p.I1104V|TIAM2_uc010kjj.2_Missense_Mutation_p.I637V|TIAM2_uc003qqf.2_Missense_Mutation_p.I480V|TIAM2_uc011efl.1_Missense_Mutation_p.I440V|TIAM2_uc003qqg.2_Missense_Mutation_p.I416V|TIAM2_uc003qqh.2_Missense_Mutation_p.I29V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1104 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCGCAAAGTCATCCAGGAGCT 0.567 NaN 0 0 0 0.008871 0 16 24 SERAC1 84947 broad.mit.edu 37 6 158565401 158565401 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:158565401C>T uc003qrc.2 - 7 681 c.539G>A c.(538-540)GGT>GAT p.G180D SERAC1_uc003qrb.2_5'UTR NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 180 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TCGTGCCAAACCAATAAGAGT 0.343 NaN 0 0 0 0.007413 0 18 19 WDR27 253769 broad.mit.edu 37 6 170047876 170047876 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:170047876C>G uc003qwx.2 - 16 2170 c.1650G>C c.(1648-1650)CAG>CAC p.Q550H WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.Q550H|WDR27_uc003qwy.2_Missense_Mutation_p.Q423H A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 520 WD 5. pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CACCTGAGTACTGGATGCAGC 0.562 NaN 0 0 0 0.009096 0 4 2 DLL1 28514 broad.mit.edu 37 6 170597489 170597489 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr6:170597489C>T uc003qxm.2 - 4 978 c.508G>A c.(508-510)GAC>AAC p.D170N DLL1_uc011ehc.1_Missense_Mutation_p.D170N NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 170 Extracellular (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TACTTGAGGTCCGTGCGGCCG 0.627 NaN 0 0 0 0.014323 0 21 21 EIF3B 8662 broad.mit.edu 37 7 2400441 2400441 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:2400441G>A uc003slx.2 + 2 679 c.596G>A c.(595-597)CGA>CAA p.R199Q EIF3B_uc003sly.2_Missense_Mutation_p.R199Q|EIF3B_uc003slz.1_Missense_Mutation_p.R160Q|EIF3B_uc003sma.2_5'UTR NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 199 Sufficient for interaction with EIF3E.|RRM.|Sufficient for interaction with EIF3J. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GGACCCGACCGACTTGAGAAA 0.443 NaN 0 0 0 0.012319 0 22 45 SLC29A4 222962 broad.mit.edu 37 7 5338755 5338755 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:5338755G>A uc003sod.2 + 8 1180 c.1019G>A c.(1018-1020)AGA>AAA p.R340K SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.R340K|SLC29A4_uc003soe.2_Missense_Mutation_p.R326K|SLC29A4_uc010ksw.2_RNA NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 340 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CCCACCTTCAGAGGTGAGTGC 0.721 NaN 0 0 0 0.00308 0 7 20 RNF216 54476 broad.mit.edu 37 7 5760771 5760771 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:5760771G>A uc003soy.1 - 9 1556 c.1366C>T c.(1366-1368)CTT>TTT p.L456F RNF216_uc010ksz.1_Missense_Mutation_p.L78F|RNF216_uc010kta.1_Missense_Mutation_p.L78F|RNF216_uc011jwj.1_Missense_Mutation_p.L78F|RNF216_uc003sox.1_Missense_Mutation_p.L513F NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 456 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTATTTTCAAGAAAGAACATC 0.428 NaN 0 0 0 0.00278 0 23 49 DNAH11 8701 broad.mit.edu 37 7 21639522 21639522 + Missense_Mutation SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:21639522T>A uc003svc.2 + 15 2816 c.2785T>A c.(2785-2787)TTC>ATC p.F929I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 929 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CGACTTAGACTTCTTTCTGAA 0.398 NaN Kartagener_syndrome 0 0 0 0.000602 0 5 32 TRIL 9865 broad.mit.edu 37 7 28996568 28996568 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:28996568G>A uc003szt.2 - 3 1462 c.1095C>T c.(1093-1095)TGC>TGT p.C365C uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 365 Extracellular (Potential).|LRRCT. inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 CTCGCAGCCGGCAGTCGCAGG 0.687 NaN 0 0 0 0.009096 0 4 10 NEUROD6 63974 broad.mit.edu 37 7 31378784 31378784 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:31378784C>A uc003tch.2 - 2 452 c.99G>T c.(97-99)AAG>AAT p.K33N NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 33 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 AGCTTTCTGGCTTCTTAATTT 0.343 NaN 1 0 2.24893e-16 0.009718 2.42626e-16 44 110 TMED4 222068 broad.mit.edu 37 7 44620691 44620691 + Splice_Site SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:44620691C>T uc003tli.2 - 4 556 c.534_splice c.e4+1 p.R178_splice TMED4_uc003tlj.2_Missense_Mutation_p.A120T|TMED4_uc003tlk.2_Missense_Mutation_p.A179T|uc003tll.2_5'Flank NM_182547 NP_872353 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity 0 TATGCACTTGCCCTTTGGTAA 0.483 NaN 0 0 0 0.007413 0 17 43 OGDH 4967 broad.mit.edu 37 7 44739760 44739760 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:44739760C>T uc003tln.2 + 19 2560 c.2451C>T c.(2449-2451)TTC>TTT p.F817F OGDH_uc011kbx.1_Silent_p.F813F|OGDH_uc011kby.1_Silent_p.F667F|OGDH_uc003tlp.2_Silent_p.F828F|OGDH_uc011kbz.1_Silent_p.F612F NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 817 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) AAGCCAACTTCGACATCAATC 0.532 NaN 0 0 0 0.007835 0 39 69 TYW1B 441250 broad.mit.edu 37 7 72277753 72277753 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:72277753C>T uc011kej.1 - 5 788 c.629G>A c.(628-630)TGC>TAC p.C210Y TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_RNA NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 210 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 GCCTTTCTTGCAGTGGCCGCC 0.517 NaN 0 0 0 0.00308 0 8 20 WBSCR27 155368 broad.mit.edu 37 7 73255423 73255423 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:73255423C>T uc003tzj.2 - 3 269 c.229G>A c.(229-231)GGC>AGC p.G77S RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Missense_Mutation_p.G77S NM_152559 NP_689772 Q8N6F8 WBS27_HUMAN Williams-Beuren syndrome chromosome region 27 77 central_nervous_system(1) 1 Lung NSC(55;0.159) AGGCCTGTGCCACAGGCCACG 0.662 NaN 0 0 0 0.000602 0 5 13 PTPN12 5782 broad.mit.edu 37 7 77230076 77230076 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:77230076G>A uc003ugh.2 + 8 739 c.648G>A c.(646-648)ATG>ATA p.M216I PTPN12_uc011kgp.1_Missense_Mutation_p.M97I|PTPN12_uc011kgq.1_Missense_Mutation_p.M86I NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 216 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 TAAGCTTAATGAGGAAATATC 0.328 NaN 0 0 0 0.004672 0 3 25 CD36 948 broad.mit.edu 37 7 80301250 80301250 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:80301250A>G uc003uhc.2 + 14 1703 c.1019A>G c.(1018-1020)TAC>TGC p.Y340C CD36_uc003uhd.3_Missense_Mutation_p.Y340C|CD36_uc011kgv.1_Missense_Mutation_p.Y264C|CD36_uc003uhe.3_Missense_Mutation_p.Y340C|CD36_uc003uhf.3_Missense_Mutation_p.Y340C|CD36_uc003uhg.3_Missense_Mutation_p.Y340C|CD36_uc003uhh.3_Missense_Mutation_p.Y340C NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 340 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 AGACCTGTGTACATTTCACTT 0.328 NaN 0 0 0 0.008291 0 10 41 SEMA3A 10371 broad.mit.edu 37 7 83823856 83823856 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:83823856A>C uc003uhz.2 - 1 362 c.47T>G c.(46-48)CTT>CGT p.L16R NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 16 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TCTTGCTGTAAGTAATACTCC 0.408 NaN 0 0 0 0.007291 0 25 77 SEMA3D 223117 broad.mit.edu 37 7 84649547 84649547 + Splice_Site SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:84649547A>G uc003uic.2 - 12 1543 c.1503_splice c.e12+1 p.K501_splice SEMA3D_uc010led.2_Splice_Site_p.K501_splice|SEMA3D_uc003uib.2_Splice_Site_p.K140_splice NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 ACTGAGTCTTACCTTGAATAT 0.413 NaN 0 0 0 0.001168 0 6 28 CYP3A4 1576 broad.mit.edu 37 7 99358539 99358539 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:99358539C>T uc003urv.1 - 12 1423 c.1319G>A c.(1318-1320)AGA>AAA p.R440K CYP3A4_uc003urw.1_Missense_Mutation_p.R439K|CYP3A4_uc011kiz.1_Missense_Mutation_p.R399K|CYP3A4_uc011kja.1_Missense_Mutation_p.R391K|CYP3A4_uc011kjb.1_Missense_Mutation_p.R290K NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 440 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) AATGCAGTTTCTGGGTCCACT 0.393 NaN 0 0 0 0.01441 0 44 68 CYP3A4 1576 broad.mit.edu 37 7 99359668 99359668 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:99359668C>G uc003urv.1 - 11 1353 c.1249G>C c.(1249-1251)GAA>CAA p.E417Q CYP3A4_uc003urw.1_Missense_Mutation_p.E416Q|CYP3A4_uc011kiz.1_Missense_Mutation_p.E376Q|CYP3A4_uc011kja.1_Missense_Mutation_p.E368Q|CYP3A4_uc011kjb.1_Missense_Mutation_p.E267Q NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 417 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTGTACCTTTCAGGGAGGAAC 0.507 NaN 0 0 0 0.00632 0 25 91 OR2AE1 81392 broad.mit.edu 37 7 99473945 99473945 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:99473945C>G uc003usc.1 - 1 712 c.712G>C c.(712-714)GCC>CCC p.A238P NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCACAAGTGGCAAAGGCATTT 0.498 NaN 0 0 0 0.004482 0 8 35 MUC17 140453 broad.mit.edu 37 7 100684143 100684143 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:100684143C>T uc003uxp.1 + 3 9499 c.9446C>T c.(9445-9447)TCT>TTT p.S3149F MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3149 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCTACAACTTCTGAAGGTACC 0.488 NaN 0 0 0 0.01441 0 68 311 LAMB1 3912 broad.mit.edu 37 7 107594021 107594021 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:107594021G>A uc003vew.2 - 22 3368 c.3033C>T c.(3031-3033)TTC>TTT p.F1011F LAMB1_uc003vev.2_Silent_p.F1035F NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1011 Laminin EGF-like 10. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAACCGGCAGAACTGACAGT 0.493 NaN 0 0 0 0.01441 0 47 36 DOCK4 9732 broad.mit.edu 37 7 111541741 111541741 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:111541741T>C uc003vfx.2 - 14 1578 c.1309A>G c.(1309-1311)ACC>GCC p.T437A DOCK4_uc003vfy.2_Missense_Mutation_p.T437A|DOCK4_uc003vga.1_Missense_Mutation_p.T42A NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 437 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ACCTTCAGGGTTTGGCCACTA 0.358 NaN 0 0 0 0.008291 0 11 39 AASS 10157 broad.mit.edu 37 7 121738842 121738842 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:121738842T>C uc003vka.2 - 13 1581 c.1485A>G c.(1483-1485)GTA>GTG p.V495V AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.V495V|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 495 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) AATATTCTAATACAGGCTCAG 0.328 NaN 0 0 0 0.013537 0 12 61 PAX4 5078 broad.mit.edu 37 7 127251629 127251629 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:127251629C>T uc010lld.1 - 8 1055 c.849G>A c.(847-849)CTG>CTA p.L283L PAX4_uc003vmf.2_Silent_p.L281L|PAX4_uc003vmg.1_Silent_p.L283L NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 291 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGGTGTCACTCAGACACCTTT 0.607 NaN 0 0 0 0.008871 0 20 105 PLXNA4 91584 broad.mit.edu 37 7 131853207 131853207 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:131853207C>T uc003vra.3 - 22 4371 c.4142G>A c.(4141-4143)CGC>CAC p.R1381H NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1381 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GCCACGGTCGCGCATGGAGAA 0.582 NaN 0 0 0 0.004482 0 6 43 EXOC4 60412 broad.mit.edu 37 7 133622721 133622721 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:133622721G>T uc003vrk.2 + 14 2140 c.2105G>T c.(2104-2106)CGT>CTT p.R702L EXOC4_uc011kpo.1_Missense_Mutation_p.R601L|EXOC4_uc003vrl.2_Missense_Mutation_p.R312L|EXOC4_uc011kpp.1_Missense_Mutation_p.R234L|EXOC4_uc011kpq.1_5'UTR NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 702 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GACATCCTTCGTGACGTCAGT 0.458 NaN 1 0 0.000673444 0.008291 0.000694388 11 78 WDR91 29062 broad.mit.edu 37 7 134894412 134894412 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:134894412G>A uc003vsp.2 - 2 281 c.219C>T c.(217-219)TTC>TTT p.F73F WDR91_uc010lmq.2_5'Flank|WDR91_uc010lmr.2_5'Flank NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 73 breast(2)|ovary(1)|skin(1) 4 CCAAGCGGCTGAAGAGCCGAC 0.493 NaN 0 0 0 0.01441 0 46 83 MLL3 58508 broad.mit.edu 37 7 151945668 151945668 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:151945668T>C uc003wla.2 - 14 2070 c.1851A>G c.(1849-1851)AAA>AAG p.K617K NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 617 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TAGAAATCTGTTTTTCCAATT 0.308 NaN N medulloblastoma 0 0 0 0.009096 0 4 29 ANGPT2 285 broad.mit.edu 37 8 6378704 6378704 + Nonsense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:6378704G>C uc003wqj.3 - 4 1123 c.794C>G c.(793-795)TCA>TGA p.S265* MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Nonsense_Mutation_p.S265*|ANGPT2_uc010lri.2_Nonsense_Mutation_p.S213*|ANGPT2_uc003wql.3_Nonsense_Mutation_p.S265* NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 265 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) CTTACAGTTTGATGTGGACAT 0.353 NaN 0 0 0 0.001984 0 6 26 MTUS1 57509 broad.mit.edu 37 8 17612302 17612302 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:17612302C>T uc003wxv.2 - 2 1489 c.1015G>A c.(1015-1017)GAG>AAG p.E339K MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E339K|MTUS1_uc010lsz.2_Missense_Mutation_p.E339K NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 339 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GACACTGTCTCTCTCAGATTT 0.423 NaN 0 0 0 0.004656 0 28 42 TNFRSF10C 8794 broad.mit.edu 37 8 22972236 22972236 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:22972236C>T uc003xcy.2 + 3 434 c.233C>T c.(232-234)GCT>GTT p.A78V TNFRSF10C_uc011kzr.1_RNA NM_003841 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, 78 TNFR-Cys 2. apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TACACCAACGCTTCCAACAAT 0.483 NaN 0 0 0 0.003755 0 29 40 FZD3 7976 broad.mit.edu 37 8 28413267 28413267 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:28413267G>C uc003xgx.2 + 7 2044 c.1566G>C c.(1564-1566)GAG>GAC p.E522D FZD3_uc010lvb.2_Missense_Mutation_p.E522D NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 522 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|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 ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TAGTGAATGAGAGCCGACAGG 0.393 NaN 0 0 0 0.001855 0 12 45 HMBOX1 79618 broad.mit.edu 37 8 28827975 28827975 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:28827975T>C uc003xhd.3 + 3 781 c.439T>C c.(439-441)TAC>CAC p.Y147H HMBOX1_uc010lvd.2_Missense_Mutation_p.Y147H|HMBOX1_uc003xhc.3_Missense_Mutation_p.Y147H|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Y147H|HMBOX1_uc011lay.1_Missense_Mutation_p.Y147H|HMBOX1_uc003xhf.2_Missense_Mutation_p.Y135H|HMBOX1_uc003xhg.2_Missense_Mutation_p.Y135H NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 147 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) TCAGAGGTCATACAGTTTTGA 0.403 NaN 0 0 0 0.001168 0 5 46 NRG1 3084 broad.mit.edu 37 8 32463142 32463142 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:32463142T>C uc003xiv.2 + 3 858 c.341T>C c.(340-342)GTG>GCG p.V114A NRG1_uc003xip.2_Missense_Mutation_p.V329A|NRG1_uc003xir.2_Missense_Mutation_p.V114A|NRG1_uc010lvl.2_Missense_Mutation_p.V114A|NRG1_uc010lvm.2_Missense_Mutation_p.V114A|NRG1_uc010lvn.2_Missense_Mutation_p.V114A|NRG1_uc003xis.2_Missense_Mutation_p.V114A|NRG1_uc011lbf.1_Missense_Mutation_p.V114A|NRG1_uc010lvo.2_Missense_Mutation_p.V114A|NRG1_uc003xiu.2_Missense_Mutation_p.V114A|NRG1_uc003xiw.2_Missense_Mutation_p.V114A|NRG1_uc003xit.2_Missense_Mutation_p.V114A|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.V80A|NRG1_uc010lvq.2_Missense_Mutation_p.V80A|NRG1_uc003xix.2_Missense_Mutation_p.V4A NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 114 Extracellular (Potential).|Ig-like C2-type. 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) ATGTGCAAAGTGATCAGCAAA 0.408 NaN 0 0 0 0.00278 0 21 35 ADAM9 8754 broad.mit.edu 37 8 38928862 38928862 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:38928862A>G uc003xmr.2 + 15 1715 c.1637A>G c.(1636-1638)AAA>AGA p.K546R ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 546 Cys-rich.|Extracellular (Potential). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|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|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) GTGAATTCTAAAGGTGACAGA 0.358 NaN 0 0 0 0.004007 0 14 17 GOLGA7 51125 broad.mit.edu 37 8 41355114 41355114 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:41355114C>T uc003xnu.2 + 3 276 c.198C>T c.(196-198)CTC>CTT p.L66L GOLGA7_uc003xnv.2_RNA|GOLGA7_uc003xnw.2_Silent_p.L66L NM_016099 NP_057183 Q7Z5G4 GOGA7_HUMAN golgi autoantigen, golgin subfamily a, 7 66 Golgi membrane breast(1) 1 Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211) all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) AGTCATATCTCGAAGGTTGTT 0.383 NaN 0 0 0 0.014323 0 21 112 POTEA 340441 broad.mit.edu 37 8 43152200 43152200 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:43152200G>A uc003xpz.1 + 2 380 c.337G>A c.(337-339)GAA>AAA p.E113K POTEA_uc003xqa.1_Missense_Mutation_p.E113K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 113 ANK 1. ovary(1) 1 TGGCAATTCAGAAGTAGTAAG 0.408 NaN 0 0 0 0.001855 0 14 74 NPBWR1 2831 broad.mit.edu 37 8 53853103 53853103 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:53853103C>T uc011ldu.1 + 1 636 c.636C>T c.(634-636)TTC>TTT p.F212F NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 212 Helical; Name=5; (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) TGCTGGGCTTCGCCATCCCCG 0.682 NaN 0 0 0 0.001984 0 7 10 SDR16C5 195814 broad.mit.edu 37 8 57228775 57228775 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:57228775G>A uc003xsy.1 - 2 770 c.132C>T c.(130-132)CTC>CTT p.L44L SDR16C5_uc010lyk.1_Silent_p.L44L|SDR16C5_uc010lyl.1_Silent_p.L44L NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN epidermal retinal dehydrogenase 2 44 NAD or NADP (By similarity). detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 CACCTGTGATGAGGACTATTT 0.468 NaN 0 0 0 0.001984 0 7 41 CHD7 55636 broad.mit.edu 37 8 61655515 61655515 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:61655515T>C uc003xue.2 + 2 2001 c.1524T>C c.(1522-1524)TTT>TTC p.F508F NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 508 Pro-rich. 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) AGCCATCTTTTCAGCAGTTGC 0.572 NaN 0 0 0 0.009096 0 3 17 CHD7 55636 broad.mit.edu 37 8 61693742 61693742 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:61693742A>G uc003xue.2 + 3 2326 c.1849A>G c.(1849-1851)AAA>GAA p.K617E NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 617 Lys-rich. 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 p.556_871dup(1) 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) AGGTTTTGGTAAAGATGACTT 0.393 NaN 0 0 0 0.006214 0 9 7 ARMC1 55156 broad.mit.edu 37 8 66517678 66517678 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:66517678G>A uc003xvl.2 - 5 796 c.561C>T c.(559-561)ATC>ATT p.I187I ARMC1_uc011leo.1_Silent_p.I85I NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 187 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) AATCTGAACGGATTCGCACCA 0.333 NaN 0 0 0 0.00632 0 23 33 PREX2 80243 broad.mit.edu 37 8 69104737 69104737 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:69104737C>T uc003xxv.1 + 37 4608 c.4581C>T c.(4579-4581)ATC>ATT p.I1527I NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1527 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCCACATCATCATGTGCAGCA 0.522 NaN 0 0 0 0.008361 0 20 15 TRPA1 8989 broad.mit.edu 37 8 72977734 72977734 + Silent SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:72977734A>T uc003xza.2 - 4 679 c.504T>A c.(502-504)GCT>GCA p.A168A NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 168 Cytoplasmic (Potential).|ANK 4. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CAATGATCACAGCTGTGTTTC 0.333 NaN 0 0 0 0.000602 0 5 32 RDH10 157506 broad.mit.edu 37 8 74233221 74233221 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:74233221G>A uc003xzi.2 + 4 939 c.679G>A c.(679-681)GAA>AAA p.E227K RDH10_uc003xzj.2_Missense_Mutation_p.E62K|uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 227 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CCTGAGCCATGAACTAAAGGC 0.443 NaN 0 0 0 0.013726 0 31 49 SLC7A13 157724 broad.mit.edu 37 8 87241991 87241991 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:87241991G>A uc003ydq.1 - 1 614 c.516C>T c.(514-516)AGC>AGT p.S172S SLC7A13_uc003ydr.1_Silent_p.S172S NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 172 Helical; Name=5; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 GGGAAATGAAGCTAAGTATGG 0.423 NaN 0 0 0 0.013726 0 30 35 WWP1 11059 broad.mit.edu 37 8 87442959 87442959 + Nonsense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:87442959G>T uc003ydt.2 + 12 1646 c.1366G>T c.(1366-1368)GGA>TGA p.G456* WWP1_uc010mai.2_Nonsense_Mutation_p.G232* NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 456 WW 3. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 TGACCCTTATGGACCTTTGCC 0.294 NaN 1 0 4.3838e-07 0.001855 4.59712e-07 11 50 RBM12B 389677 broad.mit.edu 37 8 94747139 94747139 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:94747139C>G uc003yfz.2 - 3 1693 c.1500G>C c.(1498-1500)CAG>CAC p.Q500H NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 500 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GCTCACGTGACTGTGAGCGAG 0.408 NaN 0 0 0 0.012319 0 23 88 RGS22 26166 broad.mit.edu 37 8 101083755 101083755 + Silent SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:101083755A>G uc003yjb.1 - 6 631 c.436T>C c.(436-438)TTG>CTG p.L146L RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Silent_p.L146L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 146 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGTGAGACCAATTTGGCTAAC 0.368 NaN 0 0 0 0.014323 0 19 24 CSMD3 114788 broad.mit.edu 37 8 113308174 113308174 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:113308174T>C uc003ynu.2 - 54 8661 c.8502A>G c.(8500-8502)GGA>GGG p.G2834G CSMD3_uc003yns.2_Silent_p.G2036G|CSMD3_uc003ynt.2_Silent_p.G2794G|CSMD3_uc011lhx.1_Silent_p.G2665G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2834 Extracellular (Potential).|Sushi 18. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGTCTCTATATCCATAATTTT 0.363 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.010729 0 9 45 TRPS1 7227 broad.mit.edu 37 8 116616147 116616147 + Missense_Mutation SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:116616147T>A uc003ynz.2 - 3 2469 c.2010A>T c.(2008-2010)AAA>AAT p.K670N TRPS1_uc011lhy.1_Missense_Mutation_p.K674N|TRPS1_uc003yny.2_Missense_Mutation_p.K683N|TRPS1_uc010mcy.2_Missense_Mutation_p.K670N NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 670 Mediates interaction with GLI3.|C2H2-type 4. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TAAAATCACATTTGGTACATG 0.443 NaN Langer-Giedion_syndrome 0 0 0 0.008361 0 27 27 FER1L6 654463 broad.mit.edu 37 8 124975540 124975540 + Silent SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:124975540A>C uc003yqw.2 + 3 305 c.99A>C c.(97-99)GCA>GCC p.A33A NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 33 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) ACACTGAAGCACTGCAGGAGG 0.493 NaN 0 0 0 0.008871 0 19 99 TRMT12 55039 broad.mit.edu 37 8 125463982 125463982 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:125463982G>T uc003yra.3 + 1 935 c.814G>T c.(814-816)GTT>TTT p.V272F NM_017956 NP_060426 Q53H54 TYW2_HUMAN homolog of yeast tRNA methyltransferase 12 272 tRNA processing methyltransferase activity upper_aerodigestive_tract(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCATGCTGTAGTTGCTCTGAG 0.438 NaN 1 0 8.28177e-16 0.007413 8.92361e-16 19 130 FAM84B 157638 broad.mit.edu 37 8 127569332 127569332 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:127569332C>T uc003yrz.1 - 2 587 c.303G>A c.(301-303)TCG>TCA p.S101S NM_174911 NP_777571 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 101 cytoplasm|plasma membrane protein binding 0 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) TCAGCGCCGCCGAGCCCGGCG 0.657 NaN 0 0 0 0.000602 0 5 35 PHF20L1 51105 broad.mit.edu 37 8 133816268 133816268 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:133816268G>A uc003ytt.2 + 7 1037 c.712G>A c.(712-714)GAA>AAA p.E238K PHF20L1_uc003ytr.2_Missense_Mutation_p.E212K|PHF20L1_uc010mdv.2_Missense_Mutation_p.E212K|PHF20L1_uc003yts.2_Missense_Mutation_p.E238K|PHF20L1_uc011lja.1_Missense_Mutation_p.E212K|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Missense_Mutation_p.E77K NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 238 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TACATCTAGTGAAACATTTGG 0.368 NaN 0 0 0 0.009096 0 4 23 DENND3 22898 broad.mit.edu 37 8 142175310 142175310 + Missense_Mutation SNP C C G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:142175310C>G uc003yvy.2 + 11 1513 c.1235C>G c.(1234-1236)TCT>TGT p.S412C DENND3_uc010mep.2_Missense_Mutation_p.S373C|DENND3_uc003yvz.1_Missense_Mutation_p.S96C NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 412 dDENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) ATGTTCCATTCTTTTCTTAAA 0.557 NaN 0 0 0 0.01441 0 51 71 GSDMD 79792 broad.mit.edu 37 8 144641548 144641548 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:144641548G>A uc010mfe.2 + 5 746 c.43G>A c.(43-45)GAG>AAG p.E15K uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.E63K|GSDMD_uc003yyi.2_Missense_Mutation_p.E15K|GSDMD_uc003yyg.2_Missense_Mutation_p.E15K|GSDMD_uc003yyh.2_Missense_Mutation_p.E15K NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 15 0 AGTGGTCCAGGAGCTGGACCA 0.632 NaN 0 0 0 0.012319 0 22 36 FBXL6 26233 broad.mit.edu 37 8 145580113 145580113 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:145580113G>A uc003zcb.2 - 7 1097 c.1072C>T c.(1072-1074)CTA>TTA p.L358L C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Silent_p.L85L|FBXL6_uc003zca.2_Silent_p.L352L|FBXL6_uc010mfx.2_Silent_p.L119L|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 358 LRR 6. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCTCCTCTAGGCTAGGGAAG 0.642 NaN 0 0 0 0.00245 0 14 66 GPR172A 79581 broad.mit.edu 37 8 145583820 145583820 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:145583820C>T uc003zcc.1 + 3 825 c.668C>T c.(667-669)TCT>TTT p.S223F FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.S223F|GPR172A_uc003zce.1_Missense_Mutation_p.S223F|GPR172A_uc010mfy.1_Missense_Mutation_p.S223F|GPR172A_uc003zcf.1_Missense_Mutation_p.S223F|GPR172A_uc011llc.1_Missense_Mutation_p.S135F NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 223 integral to plasma membrane receptor activity|riboflavin transporter 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCACCACCATCTGTACCCACA 0.612 NaN 0 0 0 0.00874 0 40 39 NFKBIL2 4796 broad.mit.edu 37 8 145659460 145659460 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:145659460G>A uc011llg.1 - 21 3303 c.3288C>T c.(3286-3288)ACC>ACT p.T1096T uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1096 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 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) GGCTGGGCATGGTGCCCAGGG 0.687 NaN 0 0 0 0.013726 0 30 21 KIFC2 90990 broad.mit.edu 37 8 145698738 145698738 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr8:145698738C>T uc003zcz.2 + 17 2487 c.2422C>T c.(2422-2424)CGG>TGG p.R808W KIFC2_uc003zda.2_Missense_Mutation_p.R196W NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 808 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 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) GGCTCGGGCTCGGCTCTCGCG 0.701 NaN 0 0 0 0.000602 0 5 12 DMRT2 10655 broad.mit.edu 37 9 1057223 1057223 + Missense_Mutation SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:1057223G>C uc003zha.2 + 4 1836 c.1636G>C c.(1636-1638)GAG>CAG p.E546Q DMRT2_uc003zgx.3_Missense_Mutation_p.E313Q|DMRT2_uc010mgz.2_Missense_Mutation_p.E313Q|DMRT2_uc003zgy.3_Missense_Mutation_p.E390Q|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.E546Q NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 546 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) ATTTTCTGTTGAGTCTATTCT 0.393 NaN 0 0 0 0.00333 0 22 19 GLIS3 169792 broad.mit.edu 37 9 3828335 3828335 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:3828335G>A uc003zhw.1 - 10 2459 c.2265C>T c.(2263-2265)TTC>TTT p.F755F GLIS3_uc003zhx.1_Silent_p.F910F|GLIS3_uc010mhf.1_Silent_p.F304F|GLIS3_uc003zhv.1_RNA NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 755 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TGATCTGCAAGAAGGTAGCAT 0.542 NaN 0 0 0 0.006214 0 10 10 RLN2 6019 broad.mit.edu 37 9 5304391 5304391 + Nonsense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:5304391G>A uc003zja.1 - 1 190 c.190C>T c.(190-192)CAG>TAG p.Q64* RLN2_uc003ziz.1_Nonsense_Mutation_p.Q64* NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 64 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGGTGTCTGAGGAGCATCT 0.597 NaN 0 0 0 0.001168 0 6 7 PSIP1 11168 broad.mit.edu 37 9 15469043 15469043 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:15469043C>A uc003zlv.3 - 13 1448 c.1118G>T c.(1117-1119)TGC>TTC p.C373F PSIP1_uc003zlw.3_Missense_Mutation_p.C373F NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 373 Potential. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) GGCCTCAATGCATCTGTTCAC 0.343 NaN 1 0 1.33834e-09 0.007413 1.419e-09 18 11 ARID3C 138715 broad.mit.edu 37 9 34623620 34623620 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:34623620C>T uc011lon.1 - 4 667 c.667G>A c.(667-669)GAG>AAG p.E223K NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CGACGGCCCTCGCGCCGATTG 0.701 NaN 0 0 0 0.006214 0 10 8 C9orf79 286234 broad.mit.edu 37 9 90501167 90501167 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:90501167C>T uc004app.3 + 4 1800 c.1765C>T c.(1765-1767)CAG>TAG p.Q589* C9orf79_uc004apo.1_Nonsense_Mutation_p.Q401* NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 589 integral to membrane ovary(3) 3 CAAAAAGTCTCAGGCTGTTCT 0.587 NaN 0 0 0 0.01441 0 54 62 C9orf3 84909 broad.mit.edu 37 9 97844946 97844946 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:97844946G>A uc004ava.2 + 15 2544 c.2409G>A c.(2407-2409)AAG>AAA p.K803K C9orf3_uc004auy.2_Silent_p.K704K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Silent_p.K165K|C9orf3_uc011luk.1_Silent_p.K144K|C9orf3_uc004avd.2_Silent_p.K165K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 803 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGCGGACCAAGGAGCAGATGG 0.547 NaN 0 0 0 0.013726 0 32 26 TSTD2 158427 broad.mit.edu 37 9 100388271 100388271 + Silent SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:100388271G>T uc004axn.2 - 3 662 c.174C>A c.(172-174)GCC>GCA p.A58A TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 58 ovary(2) 2 TGACAAAAAGGGCAAAGGCCT 0.353 NaN 1 0 5.9392e-07 0.001168 6.22064e-07 6 6 SVEP1 79987 broad.mit.edu 37 9 113205828 113205828 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:113205828G>T uc010mtz.2 - 27 4973 c.4636C>A c.(4636-4638)CCT>ACT p.P1546T SVEP1_uc010mua.1_Missense_Mutation_p.P1546T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1546 Pentaxin. P -> PGMF (in Ref. 1; CAF04067). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 AACATACCAGGTATGGGCAAA 0.418 NaN 1 0 0.000157383 0.00308 0.000163846 7 6 ZFP37 7539 broad.mit.edu 37 9 115805712 115805712 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:115805712C>A uc004bgm.1 - 4 1214 c.1186G>T c.(1186-1188)GTG>TTG p.V396L ZFP37_uc011lwz.1_Missense_Mutation_p.V411L|ZFP37_uc011lxa.1_Missense_Mutation_p.V397L NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 396 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGAGATCTCACATGTTGAATA 0.413 NaN 1 0 5.7616e-29 0.01441 6.25504e-29 47 34 PRPF4 9128 broad.mit.edu 37 9 116050456 116050456 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:116050456G>A uc004bgx.2 + 10 987 c.937G>A c.(937-939)GAT>AAT p.D313N PRPF4_uc004bgy.2_Missense_Mutation_p.D312N NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 313 WD 2. Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 CCTTTCCAGTGATGAACCAGT 0.458 NaN 0 0 0 0.003163 0 13 18 OR1B1 347169 broad.mit.edu 37 9 125391656 125391656 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:125391656C>T uc011lyz.1 - 1 159 c.159G>A c.(157-159)TGG>TGA p.W53* NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCTGGAGTCCCAGGAGATGA 0.522 NaN 0 0 0 0.006122 0 17 12 GARNL3 84253 broad.mit.edu 37 9 130027210 130027210 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:130027210G>A uc011mae.1 + 1 455 c.54G>A c.(52-54)CTG>CTA p.L18L GARNL3_uc011mad.1_Intron NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 18 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTATAATACTGATGAAGCATT 0.453 NaN 0 0 0 0.00278 0 23 29 TPRN 286262 broad.mit.edu 37 9 140093630 140093630 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:140093630G>A uc004clt.2 - 1 1351 c.1351C>T c.(1351-1353)CTG>TTG p.L451L TPRN_uc004clu.2_Silent_p.L451L NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 512 sensory perception of sound stereocilium 0 TGGTCCTGCAGAGTCCCTGGC 0.672 NaN 0 0 0 0.01441 0 48 37 FAM166A 401565 broad.mit.edu 37 9 140139108 140139108 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr9:140139108A>G uc004cmi.1 - 5 788 c.733T>C c.(733-735)TTC>CTC p.F245L NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 245 ovary(1) 1 CTCTTGTCGAATTCGTCCATG 0.577 NaN 0 0 0 0.005443 0 24 18 SLC25A6 293 broad.mit.edu 37 X 1505571 1505571 + Missense_Mutation SNP G G T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:1505571G>T uc004cpt.2 - 4 917 c.821C>A c.(820-822)GCG>GAG p.A274E SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 274 Helical; Name=6; (By similarity).|Solcar 3. active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 0 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) Clodronate(DB00720) GTTGGACCACGCACCCTTGAA 0.607 NaN 1 0 1.19662e-71 0.01441 1.30239e-71 154 78 ARSH 347527 broad.mit.edu 37 X 2945385 2945385 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:2945385T>C uc011mhj.1 + 7 1068 c.1068T>C c.(1066-1068)GGT>GGC p.G356G NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 356 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 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) GGGAAGGAGGTATCCGTGTGC 0.453 NaN 0 0 0 0.00623 0 36 20 MID1 4281 broad.mit.edu 37 X 10535150 10535150 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:10535150C>T uc004cte.3 - 2 629 c.438G>A c.(436-438)CTG>CTA p.L146L MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.L146L|MID1_uc004cth.3_Silent_p.L146L|MID1_uc004ctk.3_Silent_p.L146L|MID1_uc004cti.3_Silent_p.L146L|MID1_uc004ctj.3_Silent_p.L146L|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.L146L|MID1_uc004ctn.1_Silent_p.L146L|MID1_uc004cto.1_Silent_p.L146L|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.L146L|MID1_uc004ctu.2_Silent_p.L146L|MID1_uc004ctv.2_Silent_p.L146L|MID1_uc004ctw.2_Silent_p.L146L|MID1_uc010ndy.1_Silent_p.L146L|uc010ndz.1_5'Flank|MID1_uc004cty.2_Silent_p.L146L|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.L146L|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Silent_p.L146L|MID1_uc004cud.1_Silent_p.L146L|MID1_uc004cue.1_Silent_p.L146L|MID1_uc004cuf.1_Silent_p.L146L|MID1_uc004cug.1_Silent_p.L146L NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 146 B box-type 1. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 GAGTGGCTTTCAGGCACTCGT 0.552 NaN 0 0 0 0.004289 0 38 24 ARHGAP6 395 broad.mit.edu 37 X 11204418 11204418 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:11204418T>C uc004cup.1 - 5 2084 c.1211A>G c.(1210-1212)AAT>AGT p.N404S ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.N404S|ARHGAP6_uc004cum.1_Missense_Mutation_p.N201S|ARHGAP6_uc004cun.1_Missense_Mutation_p.N224S|ARHGAP6_uc010neb.1_Missense_Mutation_p.N226S|ARHGAP6_uc011mif.1_Missense_Mutation_p.N201S NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 404 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 GTAAATAGGATTCAGACTGAG 0.428 NaN 0 0 0 0.01441 0 110 84 AMELX 265 broad.mit.edu 37 X 11316858 11316858 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:11316858T>C uc004cut.2 + 5 403 c.335T>C c.(334-336)ATC>ACC p.I112T ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.I126T|AMELX_uc004cuu.2_Missense_Mutation_p.I96T NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 112 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 ATGACTCCAATCCAACACCAC 0.642 NaN 0 0 0 0.01441 0 65 39 RBBP7 5931 broad.mit.edu 37 X 16864054 16864054 + Missense_Mutation SNP T T A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:16864054T>A uc004cxt.2 - 11 1464 c.1106A>T c.(1105-1107)CAT>CTT p.H369L RBBP7_uc004cxs.1_Missense_Mutation_p.H413L|RBBP7_uc004cxu.2_Missense_Mutation_p.H360L NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 369 WD 6. 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) GTGTCCTCCATGAATAAACTG 0.363 NaN 0 0 0 0.007291 0 31 19 DMD 1756 broad.mit.edu 37 X 31947824 31947824 + Silent SNP G G C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:31947824G>C uc004dda.1 - 47 7045 c.6801C>G c.(6799-6801)CTC>CTG p.L2267L DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L923L|DMD_uc004dcx.2_Silent_p.L926L|DMD_uc004dcz.2_Silent_p.L2144L|DMD_uc004dcy.1_Silent_p.L2263L|DMD_uc004ddb.1_Silent_p.L2259L|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2267 Spectrin 16. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAATTGTTTGAGAATTCCCT 0.423 NaN 0 0 0 0.012319 0 21 31 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.007291 0 29 24 CHST7 56548 broad.mit.edu 37 X 46434113 46434113 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:46434113C>T uc004dgt.2 + 1 922 c.747C>T c.(745-747)ATC>ATT p.I249I NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 249 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 TGGTGGTCATCAAGGACGTGC 0.682 NaN 0 0 0 0.010729 0 12 14 OTUD5 55593 broad.mit.edu 37 X 48780496 48780496 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:48780496C>T uc004dlu.2 - 9 1732 c.1671G>A c.(1669-1671)ATG>ATA p.M557I OTUD5_uc004dlt.3_Missense_Mutation_p.M552I|OTUD5_uc004dlv.2_Missense_Mutation_p.M552I|OTUD5_uc011mmp.1_Missense_Mutation_p.M335I NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 557 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 TGTTTTTCTTCATACTGTCTA 0.532 NaN 0 0 0 0.003271 0 33 26 GPKOW 27238 broad.mit.edu 37 X 48973498 48973498 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:48973498C>T uc004dmr.2 - 6 806 c.799G>A c.(799-801)GAC>AAC p.D267N NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 267 KOW 1. nucleus nucleic acid binding ovary(2) 2 CGAACATTGTCAGGATCAAGG 0.547 NaN 0 0 0 0.004878 0 36 23 IQSEC2 23096 broad.mit.edu 37 X 53268459 53268459 + Missense_Mutation SNP C C A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:53268459C>A uc004dsd.2 - 11 3234 c.3033G>T c.(3031-3033)CAG>CAT p.Q1011H IQSEC2_uc004dsc.2_Missense_Mutation_p.Q806H NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 1001 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 TCTTCTTCTTCTGGAAAATTT 0.498 NaN OREG0019800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.000308642 0.003163 0.000319004 14 27 PFKFB1 5207 broad.mit.edu 37 X 54959877 54959877 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:54959877C>T uc004dty.1 - 14 1446 c.1375G>A c.(1375-1377)GAA>AAA p.E459K PFKFB1_uc010nkd.1_Missense_Mutation_p.E267K|PFKFB1_uc011mol.1_Missense_Mutation_p.E394K NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 459 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 TCCTCAGGTTCCCGGGTGATG 0.552 NaN 0 0 0 0.004656 0 27 16 APEX2 27301 broad.mit.edu 37 X 55028739 55028739 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:55028739G>A uc004dtz.2 + 3 373 c.297G>A c.(295-297)CTG>CTA p.L99L APEX2_uc011mom.1_Intron NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 99 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 AAGAAGGCCTGAGTGGCCTGT 0.552 NaN Other_BER_factors 0 0 0 0.01441 0 46 20 UBQLN2 29978 broad.mit.edu 37 X 56591246 56591246 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:56591246G>A uc004dus.2 + 1 1175 c.940G>A c.(940-942)GAT>AAT p.D314N UBQLN2_uc011moq.1_Missense_Mutation_p.D314N NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 314 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 AGAAAATCGCGATCCACTACC 0.567 NaN 0 0 0 0.005443 0 27 20 KIAA2022 340533 broad.mit.edu 37 X 73963126 73963126 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:73963126C>T uc004eby.2 - 3 1883 c.1266G>A c.(1264-1266)AAG>AAA p.K422K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 422 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 GCTTTGGATTCTTAAGTTGCT 0.428 NaN 0 0 0 0.014323 0 21 39 MAGEE2 139599 broad.mit.edu 37 X 75003930 75003930 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:75003930G>A uc004ecj.1 - 1 1142 c.957C>T c.(955-957)GTC>GTT p.V319V NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 319 MAGE 2. ovary(1)|skin(1) 2 TAGCCAACTGGACCAAATCAT 0.453 NaN 0 0 0 0.012319 0 18 35 TNMD 64102 broad.mit.edu 37 X 99854576 99854576 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:99854576C>T uc004efy.3 + 7 1042 c.816C>T c.(814-816)GGC>GGT p.G272G TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 272 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 GCCGTCGAGGCAACCGCTATT 0.478 NaN 0 0 0 0.001984 0 5 16 TSPAN6 7105 broad.mit.edu 37 X 99888412 99888412 + Missense_Mutation SNP A A T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:99888412A>T uc004ega.1 - 5 678 c.575T>A c.(574-576)GTA>GAA p.V192E TSPAN6_uc010nna.1_Missense_Mutation_p.V98E NM_003270 NP_003261 O43657 TSN6_HUMAN transmembrane 4 superfamily member 6 192 Extracellular (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity ovary(1) 1 TTCATTGTTTACTTTGTCTGC 0.294 NaN 0 0 0 0.004007 0 14 32 MORC4 79710 broad.mit.edu 37 X 106219839 106219839 + Missense_Mutation SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:106219839C>T uc004emu.3 - 9 1375 c.1132G>A c.(1132-1134)GAC>AAC p.D378N MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.D378N|MORC4_uc004emw.3_Missense_Mutation_p.D126N NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 378 ATP binding|zinc ion binding ovary(1) 1 TACTCAAAGTCTTGTTTGTTG 0.408 NaN 0 0 0 0.003163 0 13 43 MID2 11043 broad.mit.edu 37 X 107084505 107084505 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:107084505A>G uc004enl.2 + 2 1183 c.610A>G c.(610-612)AAC>GAC p.N204D MID2_uc004enk.2_Missense_Mutation_p.N204D NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 204 B box-type 2. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TGAGAAAGTGAACATGTACTG 0.507 NaN 0 0 0 0.00333 0 25 39 WDR44 54521 broad.mit.edu 37 X 117543582 117543582 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:117543582A>G uc004eqn.2 + 11 2089 c.1664A>G c.(1663-1665)AAT>AGT p.N555S WDR44_uc004eqo.2_Missense_Mutation_p.N555S|WDR44_uc011mtr.1_Missense_Mutation_p.N530S|WDR44_uc010nqi.2_Missense_Mutation_p.N265S NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 555 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 ATGAAATACAATACTGAAGGT 0.348 NaN 0 0 0 0.007413 0 19 41 ZCCHC12 170261 broad.mit.edu 37 X 117960326 117960326 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:117960326G>A uc004equ.2 + 4 1592 c.1119G>A c.(1117-1119)TTG>TTA p.L373L NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 TTGAGAATTTGATCATCACTC 0.502 NaN 0 0 0 0.00499 0 16 26 SASH3 54440 broad.mit.edu 37 X 128922525 128922525 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:128922525T>C uc011mun.1 + 3 454 c.272T>C c.(271-273)ATG>ACG p.M91T SASH3_uc004euu.2_Missense_Mutation_p.M91T|SASH3_uc011muo.1_Missense_Mutation_p.M8T NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 91 ovary(2)|pancreas(1) 3 ATGGGCAAGATGATGGTGAAG 0.572 NaN 0 0 0 0.003163 0 11 23 MAGEA11 4110 broad.mit.edu 37 X 148797576 148797576 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:148797576G>A uc004fdq.2 + 5 532 c.430G>A c.(430-432)GAG>AAG p.E144K HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.E115K NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 144 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCTCCAAGCTGAGGAGCAGGA 0.577 NaN 0 0 0 0.008291 0 10 28 INSRR 3645 broad.mit.edu 37 1 156818798 156818798 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr1:156818798delC uc010pht.1 - 7 1740 c.1486delG c.(1486-1488)GCAfs p.A496fs NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 496 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATGCGGTCTGCCTCCGTCACG 0.637 NaN NaN NaN NaN NaN NaN 22 26 --- --- CCNY 219771 broad.mit.edu 37 10 35842099 35842100 + Frame_Shift_Del DEL CA CA - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:35842099_35842100delCA uc001iyw.3 + 8 912_913 c.732_733delCA c.(730-735)ATCACGfs p.I244fs CCNY_uc001iyu.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyv.3_Frame_Shift_Del_p.I190fs|CCNY_uc001iyx.3_Frame_Shift_Del_p.I190fs|CCNY_uc009xmb.2_Frame_Shift_Del_p.I219fs|CCNY_uc010qet.1_Frame_Shift_Del_p.I111fs NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 244_245 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 TGAAAGACATCACGGTGGAGGA 0.515 NaN NaN NaN NaN NaN NaN 23 58 --- --- P4HA1 5033 broad.mit.edu 37 10 74813169 74813169 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr10:74813169delC uc010qka.1 - 7 977 c.643delG c.(643-645)GTAfs p.V215fs P4HA1_uc001jtg.2_Frame_Shift_Del_p.V215fs|P4HA1_uc001jth.2_Frame_Shift_Del_p.V215fs|P4HA1_uc010qkb.1_Frame_Shift_Del_p.V215fs|P4HA1_uc001jti.2_RNA NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 215 TPR. endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCTGATATACCGCATAGCTC 0.413 NaN NaN NaN NaN NaN NaN 14 68 --- --- MLL 4297 broad.mit.edu 37 11 118359411 118359411 + Frame_Shift_Del DEL A A - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 A - A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr11:118359411delA uc001pta.2 + 11 4438 c.4415delA c.(4414-4416)GAAfs p.E1472fs MLL_uc001ptb.2_Frame_Shift_Del_p.E1472fs|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1472 PHD-type 1. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GACCAGCTGGAAAATTGGTGT 0.418 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL NaN NaN NaN NaN NaN 24 28 --- --- NTS 4922 broad.mit.edu 37 12 86276100 86276112 + Frame_Shift_Del DEL GAGAATAAACCCA GAGAATAAACCCA - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr12:86276100_86276112delGAGAATAAACCCA uc001tag.2 + 4 567_579 c.460_472delGAGAATAAACCCA c.(460-474)GAGAATAAACCCAGAfs p.E154fs NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 154_158 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 GCAGCTGTATGAGAATAAACCCAGAAGACCCTA 0.31 NaN NaN NaN NaN NaN NaN 10 86 --- --- EFCAB5 374786 broad.mit.edu 37 17 28384744 28384759 + Frame_Shift_Del DEL AGAACTGCCTTCAATG AGAACTGCCTTCAATG - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:28384744_28384759delAGAACTGCCTTCAATG uc002het.2 + 13 2608_2623 c.2416_2431delAGAACTGCCTTCAATG c.(2416-2433)AGAACTGCCTTCAATGGAfs p.R806fs EFCAB5_uc010wbj.1_Frame_Shift_Del_p.R750fs|EFCAB5_uc010wbk.1_Frame_Shift_Del_p.R463fs|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Intron|EFCAB5_uc010csf.2_Frame_Shift_Del_p.R685fs NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 806_811 calcium ion binding ovary(1)|skin(1) 2 GGTAAAAGGCAGAACTGCCTTCAATGGAGTTTCATT 0.403 NaN NaN NaN NaN NaN NaN 10 58 --- --- SOCS7 30837 broad.mit.edu 37 17 36551570 36551570 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:36551570delC uc002hqa.2 + 8 1621 c.1498delC c.(1498-1500)CCAfs p.P500fs SOCS7_uc010cvl.2_Frame_Shift_Del_p.P466fs|SOCS7_uc002hqb.2_Intron NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 500 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) AGGACTGCCACCAACTCCTGT 0.468 NaN NaN NaN NaN NaN NaN 13 31 --- --- ITGA2B 3674 broad.mit.edu 37 17 42462950 42462957 + Frame_Shift_Del DEL GGTGTTCC GGTGTTCC - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr17:42462950_42462957delGGTGTTCC uc002igt.1 - 4 568_575 c.536_543delGGAACACC c.(535-543)GGGAACACCfs p.G179fs NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 179_181 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TGCGGCTCAGGGTGTTCCCGCGACAGGG 0.635 NaN NaN NaN NaN NaN NaN 7 8 --- --- SYDE1 85360 broad.mit.edu 37 19 15223296 15223296 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:15223296delC uc002nah.1 + 7 1749 c.1718delC c.(1717-1719)GCCfs p.A573fs SYDE1_uc002nai.1_Frame_Shift_Del_p.A506fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.A230fs NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 573 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 AGGCCTCGTGCCCGCAGCTCC 0.647 NaN NaN NaN NaN NaN NaN 12 14 --- --- HNRNPUL1 11100 broad.mit.edu 37 19 41808719 41808745 + In_Frame_Del DEL GGTGGTGGTGGCTTCCGGGGCCGCGGG GGTGGTGGTGGCTTCCGGGGCCGCGGG - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG uc002oqb.3 + 12 2126_2152 c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG c.(1837-1863)GGTGGTGGTGGCTTCCGGGGCCGCGGGdel p.GGGGFRGRG613del CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc002oqa.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehm.2_In_Frame_Del_p.GGGGFRGRG613del|HNRNPUL1_uc002oqc.3_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehn.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010eho.2_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010xvy.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_uc010ehp.2_In_Frame_Del_p.GGGGFRGRG469del|HNRNPUL1_uc002oqf.3_In_Frame_Del_p.GGGGFRGRG137del NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 613_621 Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-2.|5 X 3 AA repeats of R-G-G. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 TGACAACCGAGGTGGTGGTGGCTTCCGGGGCCGCGGGGGTGGTGGTG 0.652 NaN NaN NaN NaN NaN NaN 10 47 --- --- ZNF513 130557 broad.mit.edu 37 2 27601758 27601758 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:27601758delC uc002rkk.2 - 3 575 c.375delG c.(373-375)GGGfs p.G125fs ZNF513_uc002rkj.2_Frame_Shift_Del_p.G63fs NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 125 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTGTCGGCCCCCCACACA 0.706 NaN NaN NaN NaN NaN NaN 6 9 --- --- COL6A3 1293 broad.mit.edu 37 2 238277474 238277475 + Frame_Shift_Del DEL CA CA - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr2:238277474_238277475delCA uc002vwl.2 - 10 4916_4917 c.4631_4632delTG c.(4630-4632)CTGfs p.L1544fs COL6A3_uc002vwo.2_Frame_Shift_Del_p.L1338fs|COL6A3_uc010znj.1_Frame_Shift_Del_p.L937fs NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1544 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) GGACCAGGACCAGGTGTTGGGG 0.569 NaN NaN NaN NaN NaN NaN 23 125 --- --- C22orf28 51493 broad.mit.edu 37 22 32797844 32797858 + In_Frame_Del DEL GGTTCTTAGCAAGCG GGTTCTTAGCAAGCG - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:32797844_32797858delGGTTCTTAGCAAGCG uc003amm.2 - 5 504_518 c.373_387delCGCTTGCTAAGAACC c.(373-387)CGCTTGCTAAGAACCdel p.RLLRT125del C22orf28_uc011ama.1_RNA NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 125_129 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 CATCTAAATTGGTTCTTAGCAAGCGGACACCACAG 0.465 NaN NaN NaN NaN NaN NaN 10 36 --- --- PLXNB2 23654 broad.mit.edu 37 22 50719219 50719220 + Frame_Shift_Ins INS - - G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr22:50719219_50719220insG uc003bkv.3 - 24 4052_4053 c.3946_3947insC c.(3946-3948)CTCfs p.L1316fs PLXNB2_uc003bkt.1_Frame_Shift_Ins_p.L108fs|PLXNB2_uc003bku.1_Frame_Shift_Ins_p.L301fs NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1316 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAACTGGTAGAGGGCCTGCTCC 0.653 NaN NaN NaN NaN NaN NaN 9 36 --- --- ULK4 54986 broad.mit.edu 37 3 41860995 41860995 + Frame_Shift_Del DEL C C - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:41860995delC uc003ckv.3 - 19 1969 c.1768delG c.(1768-1770)GAAfs p.E590fs ULK4_uc003ckw.2_Frame_Shift_Del_p.E590fs NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 590 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) TTTTTTTTTTCTTCCTAAAAT 0.438 NaN NaN NaN NaN NaN NaN 24 82 --- --- MINA 84864 broad.mit.edu 37 3 97686358 97686359 + In_Frame_Ins INS - - CTGCTT TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr3:97686358_97686359insCTGCTT uc003drz.1 - 2 585_586 c.79_80insAAGCAG c.(79-81)GCT>GAAGCAGCT p.26_27insEA MINA_uc003dsa.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsb.1_In_Frame_Ins_p.26_27insEA|MINA_uc003dsc.1_In_Frame_Ins_p.26_27insEA|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 26_27 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 AGGCCCCCCAGCTGCTTCTAAC 0.48 NaN NaN NaN NaN NaN NaN 9 73 --- --- NFE2L3 9603 broad.mit.edu 37 7 26223328 26223340 + Frame_Shift_Del DEL TGAATGGGACAGA TGAATGGGACAGA - rs150480522 TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:26223328_26223340delTGAATGGGACAGA uc003sxq.2 + 3 1030_1042 c.758_770delTGAATGGGACAGA c.(757-771)CTGAATGGGACAGATfs p.L253fs NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 253_257 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CAGAGACATCTGAATGGGACAGATACTTCTTTC 0.394 NaN NaN NaN NaN NaN NaN 11 69 --- --- SFRP4 6424 broad.mit.edu 37 7 37947153 37947153 + Frame_Shift_Del DEL G G - TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chr7:37947153delG uc003tfo.3 - 6 1355 c.969delC c.(967-969)CCCfs p.P323fs NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 323 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 TGGCTGGTTTGGGAGCAGGAG 0.512 NaN NaN NaN NaN NaN NaN 45 121 --- --- USP9X 8239 broad.mit.edu 37 X 41047370 41047371 + Splice_Site INS - - GT TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7aea186-f13b-43b1-8693-f90f51e005dd 9e1dc9d9-4f0f-4083-92d2-4ddf816088ef g.chrX:41047370_41047371insGT uc004dfb.2 + 25 4443 c.3810_splice c.e25+1 p.K1270_splice USP9X_uc004dfc.2_Splice_Site_p.K1270_splice NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 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 TTTATGAGAAGGTAAGAATTAT 0.297 NaN NaN NaN NaN NaN NaN 19 15 --- ---