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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TARDBP 23435 broad.mit.edu 37 1 11082410 11082410 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:11082410C>T uc001art.2 + 6 1078 c.944C>T c.(943-945)GCG>GTG p.A315V TARDBP_uc010oap.1_Missense_Mutation_p.A199V NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 315 Gly-rich. A -> T (in ALS10). 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 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;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AACTTTGGTGCGTTCAGCATT 0.532 NA 5 82 0 0 0.000602 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884933 12884933 + Missense_Mutation SNP T T C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:12884933T>C uc001auk.2 - 4 1374 c.1178A>G c.(1177-1179)CAA>CGA p.Q393R NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 393 0 AGCCCTAATTTGAGCAAATCT 0.488 NA 30 317 0 0 0.00632 0 0 WLS 79971 broad.mit.edu 37 1 68603589 68603589 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:68603589C>A uc001def.1 - 11 1661 c.1390G>T c.(1390-1392)GGC>TGC p.G464C uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.G462C|WLS_uc001deg.1_Missense_Mutation_p.G373C|WLS_uc009wbf.1_Missense_Mutation_p.G419C NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 464 Lumenal (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 ACTGTGACGCCGCCCCATTTC 0.438 NA 12 53 2.27111e-07 3.07699e-07 0.001368 1 0 C1orf173 127254 broad.mit.edu 37 1 75038965 75038965 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:75038965C>A uc001dgg.2 - 14 2648 c.2429G>T c.(2428-2430)AGG>ATG p.R810M NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 810 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTCCACGCCCTCAAGGGAGC 0.557 NA 15 89 0.000308642 0.000367744 0.003163 1 0 GBP3 2635 broad.mit.edu 37 1 89480335 89480335 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:89480335T>A uc001dmt.2 - 4 528 c.323A>T c.(322-324)GAC>GTC p.D108V GBP3_uc010oss.1_Missense_Mutation_p.D29V|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 108 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATTCTGGTTGTCACCCTGGAA 0.473 NA 25 61 0 0 0.008361 0 0 RBM15 64783 broad.mit.edu 37 1 110882201 110882201 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:110882201C>T uc001dzl.1 + 1 257 c.174C>T c.(172-174)TCC>TCT p.S58S RBM15_uc001dzm.1_Silent_p.S58S|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 58 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCAAACGCTCCCGTGGTGGTG 0.652 NA T MKL1 acute megakaryocytic leukemia 11 48 0 0 0.000978 0 0 GJA5 2702 broad.mit.edu 37 1 147230940 147230940 + Nonsense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:147230940C>T uc001eps.1 - 2 548 c.407G>A c.(406-408)TGG>TAG p.W136* GJA5_uc001ept.1_Nonsense_Mutation_p.W136* NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 136 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CCCTTCCTCCCAGCAGGACAG 0.602 NA 8 138 0 0 0.004482 0 0 ECM1 1893 broad.mit.edu 37 1 150485219 150485219 + Silent SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:150485219G>C uc001eus.2 + 9 1522 c.1323G>C c.(1321-1323)CTG>CTC p.L441L ECM1_uc001eut.2_Silent_p.L316L|ECM1_uc001euu.2_Silent_p.L470L|ECM1_uc001euv.2_Silent_p.L468L|ECM1_uc009wlu.2_Silent_p.L201L NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 441 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TTCCTGGGCTGATCCACAACA 0.522 Melanoma(156;1696 2560 11093 19685) NA 26 310 0 0 0.001786 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919123 154919124 + Missense_Mutation DNP CC CC TA TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:154919123_154919124CC>TA uc001ffr.2 - 10 1085_1086 c.1026_1027GG>TA c.(1024-1029)GAGGCC>GATACC p.342_343EA>DT PBXIP1_uc001ffs.2_Missense_Mutation_p.313_314EA>DT|PBXIP1_uc010pep.1_Missense_Mutation_p.187_188EA>DT NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 342_343 Potential. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACACAGTCGGCCTCCAGCCCCT 0.703 NA 12 21 0 0 0.004672 0 0 PEAR1 375033 broad.mit.edu 37 1 156882331 156882331 + Missense_Mutation SNP A A T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:156882331A>T uc001fqj.1 + 17 2242 c.2126A>T c.(2125-2127)CAG>CTG p.Q709L PEAR1_uc001fqk.1_Missense_Mutation_p.Q334L NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 709 integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGCCATGCCAGTGTGGTCCT 0.607 NA 19 66 0 0 0.007413 0 0 SPTA1 6708 broad.mit.edu 37 1 158609780 158609781 + Missense_Mutation DNP CA CA AG TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:158609780_158609781CA>AG uc001fst.1 - 34 4953_4954 c.4754_4755TG>CT c.(4753-4755)CTG>CCT p.L1585P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1585 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AATGTTCCTTCAGCTGTTCCAG 0.48 NA 23 104 0 0 0.004672 0 0 ZP4 57829 broad.mit.edu 37 1 238048857 238048857 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:238048857C>A uc001hym.2 - 8 994 c.994G>T c.(994-996)GGT>TGT p.G332C LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 332 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACCAACACCGTAGTAAGAG 0.483 NSCLC(166;160 2029 11600 18754 19936) NA 10 58 0.000442599 0.000523639 0.006214 1 0 OR2T33 391195 broad.mit.edu 37 1 248436327 248436327 + Missense_Mutation SNP T T C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr1:248436327T>C uc010pzi.1 - 1 790 c.790A>G c.(790-792)AGG>GGG p.R264G NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTAGTGGACCTATGGGATTTG 0.483 NA 41 161 0 0 0.00874 0 0 GPR158 57512 broad.mit.edu 37 10 25861630 25861630 + Missense_Mutation SNP G G T rs138045559 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr10:25861630G>T uc001isj.2 + 7 1627 c.1567G>T c.(1567-1569)GGC>TGC p.G523C NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 523 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ATATATGACTGGCGGACGGGT 0.418 NA 13 69 0.000219431 0.000267134 0.00245 1 0 ZNF248 57209 broad.mit.edu 37 10 38121171 38121171 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr10:38121171C>A uc001izd.1 - 6 1611 c.1112G>T c.(1111-1113)CGG>CTG p.R371L ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R371L NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGAGCTCTCCGAAGCTGGGT 0.418 NA 15 92 3.52763e-06 4.59412e-06 0.00499 1 0 CDH23 64072 broad.mit.edu 37 10 73569756 73569756 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr10:73569756G>A uc001jrx.3 + 59 9279 c.8902G>A c.(8902-8904)GTG>ATG p.V2968M CDH23_uc001jsg.3_Missense_Mutation_p.V728M|CDH23_uc001jsh.3_Missense_Mutation_p.V728M|CDH23_uc001jsi.3_Missense_Mutation_p.V728M|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2968 Cadherin 27.|Extracellular (Potential). V -> A (in USH1D). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCCCGACCGTGTGCGCGGCTT 0.602 NA 21 106 0 0 0.00278 0 0 MYOF 26509 broad.mit.edu 37 10 95216684 95216684 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr10:95216684C>A uc001kin.2 - 2 222 c.99G>T c.(97-99)AAG>AAT p.K33N MYOF_uc001kio.2_Missense_Mutation_p.K33N|MYOF_uc001kip.3_Missense_Mutation_p.K33N|MYOF_uc009xuf.2_Missense_Mutation_p.K15N NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 33 C2 1.|Cytoplasmic (Potential). 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 TCTTTGTTTTCTTTTTCTCAT 0.313 NA 5 46 1.23904e-05 1.589e-05 0.000602 1 0 IKZF5 64376 broad.mit.edu 37 10 124753508 124753508 + Missense_Mutation SNP T T G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr10:124753508T>G uc001lha.2 - 5 1347 c.1048A>C c.(1048-1050)ACC>CCC p.T350P IKZF5_uc001lgz.2_Missense_Mutation_p.T188P NM_022466 NP_071911 Q9H5V7 IKZF5_HUMAN zinc finger protein, subfamily 1A, 5 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) GGGGCTGGGGTGCTTGGCTGG 0.547 NA 10 63 0 0 0.001786 0 0 MUC5B 727897 broad.mit.edu 37 11 1264070 1264070 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:1264070C>T uc009ycr.1 + 47 8165 c.8039C>T c.(8038-8040)TCC>TTC p.S2680F MUC5B_uc001ltb.2_Missense_Mutation_p.S1990F NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1987 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCTCTTCCTCCCTGGGCACC 0.637 NA 45 197 0 0 0.00361 0 0 OR52R1 119695 broad.mit.edu 37 11 4824767 4824767 + Missense_Mutation SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:4824767G>C uc010qym.1 - 1 1081 c.1081C>G c.(1081-1083)CTC>GTC p.L361V NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTAGATAGAGATTAGCAAAC 0.468 NA 34 130 0 0 0.002445 0 0 USH1C 10083 broad.mit.edu 37 11 17542494 17542494 + Nonsense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:17542494C>T uc001mnf.2 - 14 1242 c.1133G>A c.(1132-1134)TGG>TAG p.W378* USH1C_uc001mne.2_Nonsense_Mutation_p.W378*|USH1C_uc009yhb.2_Nonsense_Mutation_p.W359*|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Nonsense_Mutation_p.W342* NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 378 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CTTTGAGCCCCAGTCTTCTTC 0.498 NA 105 448 0 0 0.00361 0 0 WT1 7490 broad.mit.edu 37 11 32413568 32413568 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:32413568G>T uc001mtn.1 - 9 1578 c.1382C>A c.(1381-1383)TCC>TAC p.S461Y WT1_uc001mtl.1_Missense_Mutation_p.S249Y|WT1_uc001mtm.1_Missense_Mutation_p.S232Y|WT1_uc001mto.1_Missense_Mutation_p.S461Y|WT1_uc001mtp.1_Missense_Mutation_p.S444Y|WT1_uc001mtq.1_Missense_Mutation_p.S444Y|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 393 C2H2-type 3.|Important for interaction with target DNA. 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 p.V380_S410del(1) 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) GTCGGACCGGGAGAACTTTCG 0.433 NA 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 28 162 9.45814e-24 1.49903e-23 0.004878 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735552 55735552 + Missense_Mutation SNP T T G rs140763949 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:55735552T>G uc010rit.1 - 1 388 c.388A>C c.(388-390)AAA>CAA p.K130Q NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) ATGCAGACTTTGTGGTTCATC 0.453 NA 7 33 0 0 0.008291 0 0 OR4D10 390197 broad.mit.edu 37 11 59245081 59245081 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:59245081A>G uc001nnz.1 + 1 179 c.179A>G c.(178-180)TAT>TGT p.Y60C NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ACGCCCATGTATTTTTTGCTC 0.438 NA 16 188 0 0 0.003163 0 0 B3GAT1 27087 broad.mit.edu 37 11 134251867 134251867 + Nonsense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr11:134251867T>A uc001qhq.2 - 6 1231 c.970A>T c.(970-972)AAG>TAG p.K324* B3GAT1_uc001qhr.2_Nonsense_Mutation_p.K324*|B3GAT1_uc010scv.1_Nonsense_Mutation_p.K337* NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 324 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) AAGCCCTTCTTGCCCTCATTC 0.607 NA 6 70 0 0 0.001168 0 0 NCAPD2 9918 broad.mit.edu 37 12 6619879 6619879 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:6619879C>T uc001qoo.2 + 5 393 c.347C>T c.(346-348)GCC>GTC p.A116V NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.A71V NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 116 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CATCTAAATGCCCTCAAAATG 0.502 NA 5 104 0 0 0.001168 0 0 CD163 9332 broad.mit.edu 37 12 7649703 7649703 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:7649703C>T uc001qsz.3 - 5 933 c.805G>A c.(805-807)GTA>ATA p.V269I CD163_uc001qta.3_Missense_Mutation_p.V269I|CD163_uc009zfw.2_Missense_Mutation_p.V269I NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 269 SRCR 3.|Extracellular (Potential). Cleavage; in calcium-free condition. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 ACTCCATCTACCAGTCTCAGG 0.458 NA 9 86 0 0 0.006214 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 10 3.59834e-05 4.47793e-05 0.001168 1 0 KRT7 3855 broad.mit.edu 37 12 52629142 52629142 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:52629142C>A uc001saa.1 + 2 655 c.528C>A c.(526-528)TTC>TTA p.F176L KRT7_uc009zmf.1_Missense_Mutation_p.F176L NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 176 Rod.|Coil 1B. 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) TGGAGGACTTCAAGAATAAGT 0.622 NA 10 36 0.000673444 0.000785685 0.008291 1 0 NXPH4 11247 broad.mit.edu 37 12 57619307 57619307 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:57619307T>A uc010srf.1 + 2 879 c.704T>A c.(703-705)GTG>GAG p.V235E NXPH4_uc009zpj.2_Missense_Mutation_p.V41E NM_007224 NP_009155 O95158 NXPH4_HUMAN neurexophilin 4 precursor 235 V (Cys-rich). neuropeptide signaling pathway extracellular region 0 AATTGCCACGTGGAGTATGAG 0.692 NA 4 26 0 0 0.000248 0 0 UBE3B 89910 broad.mit.edu 37 12 109936113 109936113 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:109936113G>A uc001top.2 + 11 1498 c.895G>A c.(895-897)GAT>AAT p.D299N UBE3B_uc001toq.2_Missense_Mutation_p.D299N|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.D299N NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 299 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TCGATGCCGTGATGTATGTGA 0.438 NA 23 141 0 0 0.003954 0 0 NAA25 80018 broad.mit.edu 37 12 112471045 112471045 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:112471045G>A uc001ttm.2 - 23 2808 c.2788C>T c.(2788-2790)CTC>TTC p.L930F NAA25_uc001ttn.3_RNA NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 930 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 ACCGGTGAGAGAGAAGTGTCT 0.368 NA 16 66 0 0 0.00499 0 0 RASAL1 8437 broad.mit.edu 37 12 113553497 113553497 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr12:113553497G>A uc001tum.1 - 11 1239 c.946C>T c.(946-948)CGG>TGG p.R316W RASAL1_uc010syp.1_Missense_Mutation_p.R316W|RASAL1_uc001tul.2_Missense_Mutation_p.R316W|RASAL1_uc001tun.1_Missense_Mutation_p.R316W|RASAL1_uc010syq.1_Missense_Mutation_p.R316W|RASAL1_uc001tuo.3_Missense_Mutation_p.R316W|RASAL1_uc010syr.1_Missense_Mutation_p.R316W NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 316 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 GCCAGTCCCCGGCCAAGAAAG 0.627 NA 7 49 0 0 0.00308 0 0 GPR180 160897 broad.mit.edu 37 13 95273342 95273342 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr13:95273342C>T uc001vly.2 + 6 825 c.747C>T c.(745-747)ATC>ATT p.I249I GPR180_uc001vlz.2_Silent_p.I148I|GPR180_uc010afi.2_Silent_p.I10I NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 249 Helical; (Potential). integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TTTTTGACATCGCTTCCCAAA 0.343 NA 4 62 0 0 0.000248 0 0 OR4M1 441670 broad.mit.edu 37 14 20248875 20248875 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr14:20248875T>A uc010tku.1 + 1 394 c.394T>A c.(394-396)TAT>AAT p.Y132N NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCCCTCCACTATGCTACCAT 0.507 NA 20 410 0 0 0.002299 0 0 NID2 22795 broad.mit.edu 37 14 52505627 52505627 + Missense_Mutation SNP G G A rs148168699 byFrequency TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr14:52505627G>A uc001wzo.2 - 9 2329 c.2095C>T c.(2095-2097)CGC>TGC p.R699C NID2_uc010tqs.1_Missense_Mutation_p.R699C|NID2_uc010tqt.1_Missense_Mutation_p.R699C|NID2_uc001wzp.2_Missense_Mutation_p.R699C NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 699 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGGTGGATGCGGTAGGACCAT 0.512 NA 6 91 0 0 0.001168 0 0 PELI2 57161 broad.mit.edu 37 14 56755184 56755184 + Missense_Mutation SNP C C G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr14:56755184C>G uc001xch.2 + 4 625 c.339C>G c.(337-339)GAC>GAG p.D113E NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 113 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 GCCCTATCGACTTCGTTGTCA 0.478 NA 10 31 0 0 0.000978 0 0 C15orf2 23742 broad.mit.edu 37 15 24922305 24922305 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr15:24922305G>T uc001ywo.2 + 1 1765 c.1291G>T c.(1291-1293)GAC>TAC p.D431Y NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 431 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGACTTGGCTGACCTGGCTAC 0.542 NA 7 62 0.00198382 0.0022519 0.001984 1 0 CSPG4 1464 broad.mit.edu 37 15 75981484 75981484 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr15:75981484C>A uc002baw.2 - 3 2015 c.1922G>T c.(1921-1923)CGG>CTG p.R641L NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 641 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 2.|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ATCGCTGACCCGGAACGTCAA 0.687 NA 7 52 6.5536e-12 9.74341e-12 0.00308 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651344 84651344 + Missense_Mutation SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr15:84651344G>C uc002bjz.3 + 21 3188 c.2964G>C c.(2962-2964)CAG>CAC p.Q988H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q988H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q988H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 988 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GCTCTGCACAGGAAACAGTTG 0.567 NA 38 85 0 0 0.007835 0 0 SMG1 23049 broad.mit.edu 37 16 18866017 18866017 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr16:18866017C>T uc002dfm.2 - 30 4807 c.4444G>A c.(4444-4446)GAA>AAA p.E1482K SMG1_uc010bwb.2_Missense_Mutation_p.E1342K|SMG1_uc010bwa.2_Missense_Mutation_p.E213K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1482 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATATCAAGTTCGGGCCCCCAT 0.338 NA 8 56 0 0 0.00308 0 0 TNRC6A 27327 broad.mit.edu 37 16 24803129 24803129 + Missense_Mutation SNP A A T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr16:24803129A>T uc002dmm.2 + 6 3280 c.3166A>T c.(3166-3168)AGT>TGT p.S1056C TNRC6A_uc010bxs.2_Missense_Mutation_p.S803C|TNRC6A_uc010vcc.1_Missense_Mutation_p.S803C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S803C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S803C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1056 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AGAGGCAAGCAGTGGCTCTGG 0.408 NA 4 12 0 0 0.000602 0 0 KATNB1 10300 broad.mit.edu 37 16 57775655 57775655 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr16:57775655G>T uc002eml.1 + 3 471 c.97G>T c.(97-99)GGG>TGG p.G33W NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 33 WD 1.|Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CAAAGCCTCCGGGCGGCTGCT 0.647 NA 9 40 0.000274275 0.000331498 0.004482 1 0 LOC283922 283922 broad.mit.edu 37 16 74366531 74366531 + Missense_Mutation SNP A A C rs3743922 by1000genomes TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr16:74366531A>C uc002fcr.2 - 14 2183 c.837T>G c.(835-837)AAT>AAG p.N279K LOC283922_uc010vms.1_RNA Homo sapiens cDNA FLJ39449 fis, clone PROST2008360, highly similar to Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 0 CCCGGATCCCATTTGCATAGC 0.502 NA 6 17 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G G A rs13337896 by1000genomes TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr16:90161578G>A uc002fqp.2 + 3 931 c.453G>A c.(451-453)ACG>ACA p.T151T uc002fqq.2_Silent_p.T168T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. NA GCCAAGGGACGCTACACCGAA 0.587 NA 4 69 0 0 0.000248 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365687 7365687 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:7365687C>A uc002ghc.3 - 4 2864 c.2614G>T c.(2614-2616)GTG>TTG p.V872L ZBTB4_uc002ghd.3_Missense_Mutation_p.V872L NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 872 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AATTCCTGCACAGGTGGGTAT 0.627 NA 9 46 1.58986e-06 2.11982e-06 0.008291 1 0 CNTROB 116840 broad.mit.edu 37 17 7851025 7851025 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:7851025G>T uc002gjq.2 + 15 3049 c.2130G>T c.(2128-2130)AAG>AAT p.K710N CNTROB_uc002gjp.2_Missense_Mutation_p.K710N|CNTROB_uc002gjr.2_Missense_Mutation_p.K612N NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 710 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) AGGGCCTCAAGAATTTTTTGC 0.542 NA 12 91 1.08611e-07 1.48346e-07 0.000978 1 0 TMEM132E 124842 broad.mit.edu 37 17 32961947 32961947 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:32961947C>T uc002hif.2 + 8 1876 c.1548C>T c.(1546-1548)TCC>TCT p.S516S NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 516 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CGACATCATCCGAGGGCACTG 0.637 NA 8 85 0 0 0.008291 0 0 KRT40 125115 broad.mit.edu 37 17 39137108 39137108 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:39137108G>T uc010cxh.1 - 7 1065 c.904C>A c.(904-906)CAG>AAG p.Q302K KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 302 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00043) ATCTCCATCTGGCAGCCCTGC 0.522 NA 17 136 2.5808e-16 3.97774e-16 0.006122 1 0 TTC25 83538 broad.mit.edu 37 17 40101407 40101407 + Missense_Mutation SNP A A C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:40101407A>C uc002hyj.3 + 8 1165 c.1076A>C c.(1075-1077)AAA>ACA p.K359T TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.N215H NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 359 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CCTGATGCAAAATCGAGAGCC 0.378 NA 3 14 0 0 0.004672 0 0 CNP 1267 broad.mit.edu 37 17 40120102 40120102 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:40120102G>A uc002hyl.1 + 2 164 c.20G>A c.(19-21)CGA>CAA p.R7Q CNP_uc002hyk.1_Missense_Mutation_p.R7Q|CNP_uc010wfz.1_Missense_Mutation_p.R7Q|CNP_uc002hym.1_5'UTR|CNP_uc010wga.1_Intron NM_033133 NP_149124 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 7 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding 0 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) GGCTTCTCCCGAAAAAGCCAC 0.567 NA 7 98 0 0 0.00308 0 0 TEX2 55852 broad.mit.edu 37 17 62238285 62238285 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:62238285T>A uc002jec.2 - 8 2853 c.2680A>T c.(2680-2682)ATT>TTT p.I894F TEX2_uc002jed.2_Missense_Mutation_p.I901F|TEX2_uc002jee.2_Missense_Mutation_p.I894F NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 894 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TCCAAATCAATCCAGAGTCCT 0.363 NA 18 97 0 0 0.00499 0 0 CCDC57 284001 broad.mit.edu 37 17 80059641 80059641 + Missense_Mutation SNP T T C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:80059641T>C uc002kdx.1 - 17 2702 c.2665A>G c.(2665-2667)ACA>GCA p.T889A NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 890 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GAGGCTCCTGTGGTCTTGGCC 0.612 NA 16 105 0 0 0.004007 0 0 CLUL1 27098 broad.mit.edu 37 18 641480 641480 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr18:641480G>T uc002kkp.2 + 7 1293 c.1148G>T c.(1147-1149)GGC>GTC p.G383V CLUL1_uc010wys.1_Missense_Mutation_p.G435V|CLUL1_uc002kkq.2_Missense_Mutation_p.G383V NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 383 cell death extracellular region ovary(2) 2 GGGCAATTTGGCTGGGTGTCT 0.493 NA 11 94 5.50884e-06 7.11911e-06 0.001368 1 0 LRRC30 339291 broad.mit.edu 37 18 7231146 7231146 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr18:7231146A>G uc010wzk.1 + 1 10 c.10A>G c.(10-12)AGG>GGG p.R4G NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 4 ovary(1)|liver(1) 2 AATGGGGGCCAGGCAGTCAAG 0.607 NA 7 80 0 0 0.00308 0 0 POTEC 388468 broad.mit.edu 37 18 14542792 14542792 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr18:14542792G>T uc010dln.2 - 1 808 c.354C>A c.(352-354)GGC>GGA p.G118G POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 118 skin(3) 3 CTCCCCAAGCGCCCACGTTGC 0.597 NA 14 200 1.05317e-09 1.52528e-09 0.00245 1 0 CDH7 1005 broad.mit.edu 37 18 63430252 63430252 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr18:63430252G>T uc002ljz.2 + 2 499 c.174G>T c.(172-174)GAG>GAT p.E58D CDH7_uc002lka.2_Missense_Mutation_p.E58D|CDH7_uc002lkb.2_Missense_Mutation_p.E58D NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 58 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTGTGCTGGAGGAATACATGG 0.458 NA 12 48 4.36969e-10 6.38355e-10 0.001855 1 0 ADNP2 22850 broad.mit.edu 37 18 77896341 77896341 + Silent SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr18:77896341G>C uc002lnw.2 + 4 3500 c.3045G>C c.(3043-3045)GTG>GTC p.V1015V NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1015 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CGAGTGTTGTGCCTTTTAAAA 0.507 NA 13 47 0 0 0.003163 0 0 PTPRS 5802 broad.mit.edu 37 19 5274329 5274329 + Nonsense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:5274329T>A uc002mbv.2 - 3 352 c.118A>T c.(118-120)AAG>TAG p.K40* PTPRS_uc002mbu.1_Nonsense_Mutation_p.K40*|PTPRS_uc010xin.1_Nonsense_Mutation_p.K40*|PTPRS_uc002mbw.2_Nonsense_Mutation_p.K40*|PTPRS_uc002mbx.2_Nonsense_Mutation_p.K40*|PTPRS_uc002mby.2_Nonsense_Mutation_p.K40*|PTPRS_uc002mbz.1_Nonsense_Mutation_p.K40* NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 40 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ATCTGGTCCTTGGGTTCTTTG 0.597 NA 16 28 0 0 0.004007 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953771 8953771 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:8953771C>T uc002mko.2 + 1 503 c.417C>T c.(415-417)ATC>ATT p.I139I NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GAGTGGGTATCTCGCAGCTCC 0.522 NA 5 27 0 0 0.000602 0 0 KIAA1683 80726 broad.mit.edu 37 19 18375896 18375896 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:18375896C>T uc002nin.2 - 3 2670 c.2454G>A c.(2452-2454)CAG>CAA p.Q818Q KIAA1683_uc010ebn.2_Silent_p.Q818Q|KIAA1683_uc010xqe.1_Silent_p.Q772Q NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 818 mitochondrion ovary(2) 2 ATGGTCCCCCCTGAGTGGTCT 0.687 NA 9 134 0 0 0.008291 0 0 ZNF420 147923 broad.mit.edu 37 19 37619025 37619025 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:37619025C>T uc002ofl.2 + 5 1347 c.1132C>T c.(1132-1134)CTT>TTT p.L378F NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 378 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGCTCACAACTTACTCAACA 0.418 NA 8 83 0 0 0.004482 0 0 FCGBP 8857 broad.mit.edu 37 19 40411646 40411646 + Nonsense_Mutation SNP T T A rs139603547 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:40411646T>A uc002omp.3 - 7 3990 c.3982A>T c.(3982-3984)AAG>TAG p.K1328* NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1328 VWFD 3. 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) ACCGTGACCTTCCACTGTCTC 0.647 NA 30 119 0 0 0.002836 0 0 PSG8 440533 broad.mit.edu 37 19 43258571 43258571 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:43258571G>T uc002ouo.2 - 5 1255 c.1157C>A c.(1156-1158)ACA>AAA p.T386K PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.T225K|PSG8_uc002ouh.2_Missense_Mutation_p.T386K|PSG8_uc010ein.2_Missense_Mutation_p.T264K|PSG8_uc002ouj.3_Missense_Mutation_p.T168K|PSG8_uc002ouk.3_Missense_Mutation_p.T225K|PSG8_uc002oul.3_Missense_Mutation_p.T386K|PSG8_uc002oum.3_Missense_Mutation_p.T293K|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T293K NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 386 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) GCTATGCTTTGTAGTAATTTG 0.468 NA 56 249 1.45723e-30 2.35398e-30 0.00361 1 0 KPTN 11133 broad.mit.edu 37 19 47986421 47986421 + Missense_Mutation SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:47986421G>C uc002pgy.2 - 4 550 c.446C>G c.(445-447)GCG>GGG p.A149G KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 149 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) CACTCACTCCGCATGGCACAG 0.537 NA 43 230 0 0 0.00361 0 0 ZNF600 162966 broad.mit.edu 37 19 53268962 53268962 + Missense_Mutation SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:53268962G>C uc002qab.3 - 3 2333 c.2047C>G c.(2047-2049)CAA>GAA p.Q683E NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 683 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CCAGTATGTTGTTTCAGGTGT 0.403 Esophageal Squamous(196;1235 2112 2375 33339 34207) NA 13 63 0 0 0.001368 0 0 ZNF28 7576 broad.mit.edu 37 19 53303701 53303701 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:53303701G>T uc002qad.2 - 4 1517 c.1397C>A c.(1396-1398)CCA>CAA p.P466Q ZNF28_uc002qac.2_Missense_Mutation_p.P413Q|ZNF28_uc010eqe.2_Missense_Mutation_p.P412Q NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ACATTTGTATGGTTTCTCTGC 0.388 NA 11 93 3.07112e-06 4.03084e-06 0.000978 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58565042 58565042 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:58565042C>T uc002qrc.1 + 6 1097 c.850C>T c.(850-852)CGT>TGT p.R284C NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 284 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 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;0.0152) GGTAGTGCCGCGTGGGCCCCG 0.627 NA 8 69 0 0 0.00308 0 0 RNF144A 9781 broad.mit.edu 37 2 7170334 7170334 + Nonsense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:7170334G>A uc002qys.2 + 8 1177 c.735G>A c.(733-735)TGG>TGA p.W245* RNF144A_uc002qyt.2_Nonsense_Mutation_p.W94* NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 245 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CTGTGATCTGGCATCGGACAC 0.423 NA 6 90 0 0 0.001984 0 0 KCNF1 3754 broad.mit.edu 37 2 11053812 11053812 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:11053812G>T uc002rax.2 + 1 1750 c.1260G>T c.(1258-1260)GAG>GAT p.E420D NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 420 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GCGTCCTGGAGACCGCGGCCA 0.622 NA 4 40 0.000602214 0.000707497 0.000602 1 0 FSHR 2492 broad.mit.edu 37 2 49381520 49381520 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:49381520T>A uc002rww.2 - 1 111 c.37A>T c.(37-39)AGC>TGC p.S13C FSHR_uc002rwx.2_Missense_Mutation_p.S13C|FSHR_uc010fbn.2_Missense_Mutation_p.S13C|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 13 S -> R (in Ref. 8; CAA48179). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAGCCCAAGCTCAGGAATGCC 0.498 NA Gonadal_Dysgenesis_46_XX 19 37 0 0 0.007413 0 0 PLEK 5341 broad.mit.edu 37 2 68615552 68615552 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:68615552A>G uc002sen.3 + 6 853 c.691A>G c.(691-693)AGT>GGT p.S231G PLEK_uc010fde.2_Missense_Mutation_p.S231G NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 231 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGAGAATTCCAGTGATGATGA 0.458 NA 6 138 0 0 0.001984 0 0 POLR1A 25885 broad.mit.edu 37 2 86272749 86272749 + Silent SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:86272749G>A uc002sqs.2 - 20 3256 c.2877C>T c.(2875-2877)ATC>ATT p.I959I POLR1A_uc010ytb.1_Silent_p.I325I|POLR1A_uc002sqt.1_5'Flank NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 959 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CAGGAGGTTTGATGCCGGTGA 0.507 NA 13 122 0 0 0.00245 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779487 97779487 + Missense_Mutation SNP G G A rs141447363 by1000genomes TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:97779487G>A uc010yva.1 + 1 255 c.11G>A c.(10-12)GGC>GAC p.G4D ANKRD36_uc002sxn.2_Missense_Mutation_p.G4D|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.G4D|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 4 0 ATGGAAGACGGCAAGCGGGAG 0.562 NA 4 134 0 0 0.000248 0 0 MERTK 10461 broad.mit.edu 37 2 112754934 112754934 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:112754934G>T uc002thk.1 + 10 1607 c.1485G>T c.(1483-1485)GCG>GCT p.A495A MERTK_uc002thl.1_Silent_p.A319A NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 495 Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 CAACTCCGGCGCCTGGCAACG 0.448 NA 46 171 3.21987e-24 5.15179e-24 0.00361 1 0 YSK4 80122 broad.mit.edu 37 2 135744057 135744057 + Silent SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:135744057G>A uc002tue.1 - 7 2416 c.2385C>T c.(2383-2385)TCC>TCT p.S795S YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S682S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.S523S|YSK4_uc002tui.3_Silent_p.S812S NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 795 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCTGTTTCATGGACTGCTCAG 0.388 NA 6 68 0 0 0.001168 0 0 THSD7B 80731 broad.mit.edu 37 2 137814267 137814267 + Missense_Mutation SNP G G C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:137814267G>C uc002tva.1 + 2 324 c.324G>C c.(322-324)CAG>CAC p.Q108H THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATGGACTGCAGCACCGGATGG 0.552 NA 15 93 0 0 0.003163 0 0 PPIG 9360 broad.mit.edu 37 2 170493582 170493582 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:170493582G>T uc002uez.2 + 14 2034 c.1814G>T c.(1813-1815)CGA>CTA p.R605L PPIG_uc010fpx.2_Missense_Mutation_p.R590L|PPIG_uc010fpy.2_Missense_Mutation_p.R598L|PPIG_uc002ufb.2_Missense_Mutation_p.R605L|PPIG_uc002ufd.2_Missense_Mutation_p.R602L NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 605 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) GGACGGTCACGAAGCCGAGAG 0.488 NA 5 26 2.7689e-08 3.81291e-08 0.001984 1 0 TTN 7273 broad.mit.edu 37 2 179451522 179451522 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:179451522G>A uc010zfg.1 - 257 56626 c.56402C>T c.(56401-56403)CCC>CTC p.P18801L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12496L|TTN_uc010zfi.1_Missense_Mutation_p.P12429L|TTN_uc010zfj.1_Missense_Mutation_p.P12304L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19728 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) TTTCCTTGGGGGATCCGGCTC 0.408 NA 10 104 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179583959 179583959 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:179583959C>A uc010zfg.1 - 80 20650 c.20426G>T c.(20425-20427)GGC>GTC p.G6809V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3470V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7736 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) CGTGTATATGCCTGTGTCGGA 0.502 NA 6 107 0.00116845 0.00135379 0.001168 1 0 NRP2 8828 broad.mit.edu 37 2 206581060 206581061 + Missense_Mutation DNP GG GG TT TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:206581060_206581061GG>TT uc002vaw.2 + 3 1186_1187 c.395_396GG>TT c.(394-396)GGG>GTT p.G132V NRP2_uc002vat.2_Missense_Mutation_p.G132V|NRP2_uc002vau.2_Missense_Mutation_p.G132V|NRP2_uc002vav.2_Missense_Mutation_p.G132V|NRP2_uc002vax.2_Missense_Mutation_p.G132V|NRP2_uc002vay.2_Missense_Mutation_p.G132V|NRP2_uc010fud.2_Missense_Mutation_p.G132V NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 132 Extracellular (Potential).|CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GCCCGGCAGGGGGCAGGCTTCT 0.609 NA 19 78 0 0 0.004672 0 0 ARMC9 80210 broad.mit.edu 37 2 232146780 232146780 + Silent SNP G G A rs34385474 byFrequency TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:232146780G>A uc002vrq.3 + 17 1672 c.1560G>A c.(1558-1560)CCG>CCA p.P520P ARMC9_uc002vrp.3_Silent_p.P520P|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 520 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGATACAGCCGTATGTGAATG 0.423 NA 7 140 0 0 0.00308 0 0 OTOS 150677 broad.mit.edu 37 2 241078674 241078674 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr2:241078674G>T uc002vyv.2 - 4 338 c.183C>A c.(181-183)CCC>CCA p.P61P MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank NM_148961 NP_683764 Q8NHW6 OTOSP_HUMAN otospiralin precursor 61 extracellular region 0 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CCTCGATCTGGGGGTAGGCCC 0.622 NA 11 114 1.58986e-06 2.11982e-06 0.008291 1 0 HSPA12B 116835 broad.mit.edu 37 20 3728940 3728940 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr20:3728940G>A uc002wjd.2 + 8 855 c.752G>A c.(751-753)CGC>CAC p.R251H HSPA12B_uc010zqi.1_Missense_Mutation_p.R250H|HSPA12B_uc002wje.2_Missense_Mutation_p.R164H|HSPA12B_uc010zqj.1_Missense_Mutation_p.R85H NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 251 ATP binding 0 GTATACTGCCGCAAGCTGCGC 0.682 NA 11 62 0 0 0.000978 0 0 CEP250 11190 broad.mit.edu 37 20 34078568 34078568 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr20:34078568A>G uc002xcm.2 + 22 3363 c.2692A>G c.(2692-2694)ATG>GTG p.M898V CEP250_uc010zve.1_Missense_Mutation_p.M266V NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 898 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCAGACAGAAATGGAGGCCAT 0.572 NA 7 94 0 0 0.00308 0 0 ZNF217 7764 broad.mit.edu 37 20 52198292 52198292 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr20:52198292C>T uc002xwq.3 - 1 1345 c.1074G>A c.(1072-1074)GCG>GCA p.A358A ZNF217_uc010gij.1_Silent_p.A350A NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 358 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CCACGGAGGGCGCTTCGCCGT 0.557 NA 9 110 0 0 0.004482 0 0 OPRL1 4987 broad.mit.edu 37 20 62730084 62730084 + Missense_Mutation SNP G G A rs138440707 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr20:62730084G>A uc002yic.2 + 5 1447 c.1045G>A c.(1045-1047)GTG>ATG p.V349M OPRL1_uc002yid.2_Missense_Mutation_p.V349M|OPRL1_uc002yif.3_Missense_Mutation_p.V344M NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 349 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GTCTGACCGCGTGCGCAGCAT 0.642 NA 14 49 0 0 0.001855 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410632 32410632 + Missense_Mutation SNP T T G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr21:32410632T>G uc010glt.2 - 1 164 c.131A>C c.(130-132)TAT>TCT p.Y44S NM_001099219 NP_001092689 Q3LI54 KR198_HUMAN keratin associated protein 19-8 44 intermediate filament upper_aerodigestive_tract(1) 1 GCTGAATCCATAGCCTCCGTA 0.517 NA 19 97 0 0 0.008871 0 0 TBX1 6899 broad.mit.edu 37 22 19750849 19750849 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr22:19750849G>A uc002zqb.2 + 4 625 c.496G>A c.(496-498)GAC>AAC p.D166N TBX1_uc002zqa.1_Missense_Mutation_p.D166N|TBX1_uc002zqc.2_Missense_Mutation_p.D166N NM_080646 NP_542377 O43435 TBX1_HUMAN T-box 1 isoform A 166 T-box. embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1) 2 Colorectal(54;0.0993) all_lung(157;3.05e-06) CGTGCCGGTGGACGATAAGCG 0.612 NA 13 40 0 0 0.001855 0 0 HHATL 57467 broad.mit.edu 37 3 42735266 42735266 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr3:42735266G>T uc003clw.2 - 11 1238 c.1091C>A c.(1090-1092)CCA>CAA p.P364Q HHATL_uc003clx.2_Missense_Mutation_p.P364Q NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 364 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGCCAGCTCTGGGATCACAGC 0.542 NA 6 37 2.7689e-08 3.81291e-08 0.001984 1 0 KCNAB1 7881 broad.mit.edu 37 3 156175266 156175266 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr3:156175266G>A uc003far.2 + 4 446 c.382G>A c.(382-384)GCC>ACC p.A128T KCNAB1_uc011bon.1_Missense_Mutation_p.A128T|KCNAB1_uc003fas.2_Missense_Mutation_p.A117T|KCNAB1_uc003fat.2_Missense_Mutation_p.A110T|KCNAB1_uc010hvt.1_Missense_Mutation_p.A110T|KCNAB1_uc011boo.1_Missense_Mutation_p.A4T NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 128 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GATGACCATCGCCTATGAAAG 0.473 NA 14 97 0 0 0.004007 0 0 ACAP2 23527 broad.mit.edu 37 3 195000115 195000115 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr3:195000115A>G uc003fun.3 - 23 2520 c.2279T>C c.(2278-2280)ATG>ACG p.M760T NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 760 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 ATTGGATGCCATTTGGGAAAA 0.313 NA 9 35 0 0 0.008291 0 0 PIGG 54872 broad.mit.edu 37 4 515677 515677 + Missense_Mutation SNP G G A rs138569779 byFrequency TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr4:515677G>A uc003gak.3 + 8 1697 c.1561G>A c.(1561-1563)GTG>ATG p.V521M PIGG_uc003gaj.3_Missense_Mutation_p.V513M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V388M|PIGG_uc003gal.3_Missense_Mutation_p.V432M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V432M NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 521 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GCTGCTGTGTGTGATTGTGTC 0.587 NA 5 60 0 0 0.000602 0 0 PCDH10 57575 broad.mit.edu 37 4 134073195 134073195 + Missense_Mutation SNP C C G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr4:134073195C>G uc003iha.2 + 1 2726 c.1900C>G c.(1900-1902)CGC>GGC p.R634G uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R634G NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 634 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CATGGACTGGCGCACCGGGGA 0.692 NA 19 53 0 0 0.001882 0 0 IQGAP2 10788 broad.mit.edu 37 5 75996968 75996968 + Missense_Mutation SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:75996968G>T uc003kek.2 + 34 4657 c.4435G>T c.(4435-4437)GTG>TTG p.V1479L IQGAP2_uc011csv.1_Missense_Mutation_p.V975L|IQGAP2_uc003kel.2_Missense_Mutation_p.V975L NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1479 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGCGAAGCCAGTGAAGTACAC 0.408 NA 10 59 2.17888e-05 2.77312e-05 0.006214 1 0 FER 2241 broad.mit.edu 37 5 108382819 108382819 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:108382819A>G uc003kop.1 + 16 2228 c.1844A>G c.(1843-1845)TAT>TGT p.Y615C FER_uc011cvg.1_Missense_Mutation_p.Y440C NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 615 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CTCAAGCAATATGATCATCCC 0.313 Colon(146;1051 1799 9836 27344 47401) NA 5 27 0 0 0.000602 0 0 SLC6A7 6534 broad.mit.edu 37 5 149578887 149578887 + Silent SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:149578887C>A uc003lrr.2 + 5 1052 c.681C>A c.(679-681)ATC>ATA p.I227I NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 227 Helical; Name=4; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CCTGGGTCATCGTGTTCCTCT 0.423 NA 23 64 1.22574e-08 1.71603e-08 0.002299 1 0 CDHR2 54825 broad.mit.edu 37 5 176011494 176011494 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:176011494G>A uc003mem.1 + 19 2278 c.2212G>A c.(2212-2214)GGT>AGT p.G738S CDHR2_uc003men.1_Missense_Mutation_p.G738S NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 738 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GTCGGGGAGTGGTGCCAACTA 0.642 NA 42 134 0 0 0.002222 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178540919 178540919 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:178540919G>T uc003mjw.2 - 22 3585 c.3585C>A c.(3583-3585)ATC>ATA p.I1195I uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1195 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGAGCTCTTGGATTCTTTGGT 0.433 NA 13 136 2.68362e-12 4.02543e-12 0.001368 1 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987629 7987629 + Missense_Mutation SNP C C A rs138980345 by1000genomes TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:7987629C>A uc003mxx.3 + 1 1295 c.860C>A c.(859-861)ACG>AAG p.T287K TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 GATGCTGACACGTACAATGCT 0.468 NA 5 36 3.59834e-05 4.47793e-05 0.001168 1 0 OR2B2 81697 broad.mit.edu 37 6 27879450 27879450 + Silent SNP T T G rs147063988 by1000genomes TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:27879450T>G uc011dkw.1 - 1 648 c.648A>C c.(646-648)ATA>ATC p.I216I NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGCATACGATATAAGGATGA 0.443 NA 3 47 0 0 0.000602 0 0 TAP2 6891 broad.mit.edu 37 6 32803552 32803552 + Splice_Site SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:32803552T>A uc003occ.2 - 3 640 c.609_splice c.e3-1 p.S203_splice TAP2_uc011dqf.1_Splice_Site_p.S203_splice|TAP2_uc003ocb.1_Splice_Site_p.S203_splice|TAP2_uc003ocd.2_Splice_Site_p.S203_splice NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GACAGTGAGCTGTGGGGTAGG 0.582 NA 7 72 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56371588 56371588 + Splice_Site SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:56371588C>A uc003pdf.2 - 70 12911 c.12883_splice c.e70-1 p.T4295_splice DST_uc003pcz.3_Splice_Site_p.T4117_splice|DST_uc011dxj.1_Splice_Site_p.T4146_splice|DST_uc011dxk.1_Splice_Site_p.T4157_splice|DST_uc003pcy.3_Splice_Site_p.T3791_splice NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCTTATGGTCTAGAATAAGA 0.378 NA 27 94 4.02929e-09 5.78564e-09 0.002096 1 0 PRIM2 5558 broad.mit.edu 37 6 57398228 57398228 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:57398228C>A uc003pdx.2 + 10 1018 c.931C>A c.(931-933)CTA>ATA p.L311I NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 311 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GCAGTATGTCCTATTTCTGAA 0.403 NA 6 188 5.4927e-09 7.82012e-09 0.004482 1 0 MRPL18 29074 broad.mit.edu 37 6 160211662 160211662 + Missense_Mutation SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr6:160211662A>G uc003qsw.3 + 1 171 c.43A>G c.(43-45)AGG>GGG p.R15G TCP1_uc003qsr.2_5'Flank|TCP1_uc003qss.2_5'Flank|TCP1_uc010kjz.2_5'Flank|TCP1_uc003qst.2_5'Flank|TCP1_uc010kka.1_5'Flank|MRPL18_uc010kkb.2_Intron NM_014161 NP_054880 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 precursor 15 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) CTCGGTTTGCAGGAACCCTGG 0.557 NA 3 63 0 0 0.000248 0 0 C7orf28B 221960 broad.mit.edu 37 7 6862974 6862974 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr7:6862974C>T uc003sqx.1 - 5 441 c.408G>A c.(406-408)TCG>TCA p.S136S C7orf28B_uc011jxd.1_5'UTR|C7orf28B_uc003sqy.1_3'UTR NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 136 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) GCCGCAGCACCGAGCTATAAA 0.493 NA 11 97 0 0 0.007413 0 0 ABCB5 340273 broad.mit.edu 37 7 20721241 20721241 + Silent SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr7:20721241T>A uc003suw.3 + 6 1032 c.486T>A c.(484-486)GCT>GCA p.A162A ABCB5_uc010kuh.2_Silent_p.A607A NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 162 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GAGCACATGCTGAACTAATGG 0.428 NA 10 51 0 0 0.008291 0 0 AKAP9 10142 broad.mit.edu 37 7 91622330 91622330 + Silent SNP A A G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr7:91622330A>G uc003ulg.2 + 5 762 c.537A>G c.(535-537)GAA>GAG p.E179E AKAP9_uc003uld.3_Silent_p.E179E|AKAP9_uc003ule.2_Silent_p.E191E|AKAP9_uc003ulf.2_Silent_p.E179E NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 191 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGAGCTGGAAGAAATGAGGG 0.433 NA T BRAF papillary thyroid 6 51 0 0 0.001984 0 0 PRSS37 136242 broad.mit.edu 37 7 141537006 141537006 + Missense_Mutation SNP A A C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr7:141537006A>C uc003vws.1 - 4 845 c.473T>G c.(472-474)ATG>AGG p.M158R PRSS37_uc011krk.1_Missense_Mutation_p.M145R|PRSS37_uc011krl.1_Missense_Mutation_p.M157R|PRSS37_uc003vwt.1_Missense_Mutation_p.M145R NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor 158 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 TCGATCAGACATCACGGGGGC 0.453 NA 7 70 0 0 0.004482 0 0 CSMD1 64478 broad.mit.edu 37 8 2824215 2824215 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:2824215C>A uc011kwk.1 - 58 9370 c.8980G>T c.(8980-8982)GAT>TAT p.D2994Y CSMD1_uc011kwj.1_Missense_Mutation_p.D2323Y|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2994 Extracellular (Potential).|Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGAATGCCATCACTACTGACA 0.552 NA 4 20 0.00198382 0.0022519 0.001984 1 0 CSMD1 64478 broad.mit.edu 37 8 3216716 3216716 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:3216716C>A uc011kwk.1 - 21 3655 c.3265G>T c.(3265-3267)GGG>TGG p.G1089W CSMD1_uc011kwj.1_Missense_Mutation_p.G481W|CSMD1_uc003wqe.2_Missense_Mutation_p.G245W NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1089 Sushi 6.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGGCGGCCCCCACCCAGGCAG 0.557 NA 12 113 0.00316338 0.00356676 0.003163 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767139 77767139 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:77767139G>A uc003yav.2 + 10 8234 c.7847G>A c.(7846-7848)AGG>AAG p.R2616K ZFHX4_uc003yau.1_Missense_Mutation_p.R2661K|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2616K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2616 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCGCGGGAGAGGAAAGGCCAG 0.522 NA HNSCC(33;0.089) 19 89 0 0 0.006122 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768513 77768513 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:77768513C>A uc003yav.2 + 10 9608 c.9221C>A c.(9220-9222)CCG>CAG p.P3074Q ZFHX4_uc003yau.1_Missense_Mutation_p.P3119Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.P3074Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3074 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCTCCTTGCCGGGATTTCCA 0.512 NA HNSCC(33;0.089) 12 41 0.00010058 0.000123339 0.001368 1 0 RIMS2 9699 broad.mit.edu 37 8 105261795 105261795 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:105261795C>T uc003yls.2 + 26 3965 c.3724C>T c.(3724-3726)CCA>TCA p.P1242S RIMS2_uc003ylp.2_Missense_Mutation_p.P1224S|RIMS2_uc003ylw.2_Missense_Mutation_p.P1231S|RIMS2_uc003ylq.2_Missense_Mutation_p.P1038S|RIMS2_uc003ylr.2_Missense_Mutation_p.P1063S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1286 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGTTGTAAAACCAGGTTCCAA 0.403 NA HNSCC(12;0.0054) 4 43 0 0 0.000248 0 0 MAL2 114569 broad.mit.edu 37 8 120252494 120252494 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:120252494C>T uc003yop.2 + 4 495 c.393C>T c.(391-393)TGC>TGT p.C131C NM_052886 NP_443118 Q969L2 MAL2_HUMAN MAL2 proteolipid protein 131 Lumenal (Potential).|MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding 0 all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) ATTTGCATTGCAATACAACCA 0.403 NA 7 51 0 0 0.00308 0 0 ENPP2 5168 broad.mit.edu 37 8 120594688 120594688 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:120594688G>T uc003yot.1 - 18 1784 c.1698C>A c.(1696-1698)GGC>GGA p.G566G ENPP2_uc011lic.1_Silent_p.G83G|ENPP2_uc003yor.1_Silent_p.G205G|ENPP2_uc003yos.1_Silent_p.G618G|ENPP2_uc010mdd.1_Silent_p.G566G NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 566 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CACAAGTGCAGCCCAGGTCAA 0.383 Melanoma(20;305 879 2501 4818 31020) NA 18 99 1.02788e-11 1.51478e-11 0.00499 1 0 NFKBIL2 4796 broad.mit.edu 37 8 145661703 145661703 + Missense_Mutation SNP T T C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr8:145661703T>C uc011llg.1 - 17 2128 c.2113A>G c.(2113-2115)AGC>GGC p.S705G uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 705 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) AGTCTAGTGCTATTAGAGGGG 0.652 NA 6 90 0 0 0.001984 0 0 TMEM215 401498 broad.mit.edu 37 9 32784340 32784340 + Silent SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:32784340C>T uc003zri.3 + 2 524 c.159C>T c.(157-159)GGC>GGT p.G53G NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 53 Helical; (Potential). integral to membrane 0 GCCTACCAGGCATCGCAGCCA 0.587 NA 10 50 0 0 0.006214 0 0 KIAA1161 57462 broad.mit.edu 37 9 34371852 34371852 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:34371852C>T uc003zue.3 - 3 1257 c.1090G>A c.(1090-1092)GAC>AAC p.D364N NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 364 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TCATCGAAGTCGAAGTCGCCA 0.582 NA 6 62 0 0 0.001168 0 0 ASTN2 23245 broad.mit.edu 37 9 119202889 119202889 + Missense_Mutation SNP T T A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:119202889T>A uc004bjs.1 - 22 3882 c.3781A>T c.(3781-3783)AGG>TGG p.R1261W ASTN2_uc004bjr.1_Missense_Mutation_p.R1257W|ASTN2_uc004bjt.1_Missense_Mutation_p.R1210W|ASTN2_uc004bjp.1_Missense_Mutation_p.R354W|ASTN2_uc004bjq.1_Missense_Mutation_p.R313W|ASTN2_uc011lxr.1_Missense_Mutation_p.R313W|ASTN2_uc011lxs.1_Missense_Mutation_p.R313W|ASTN2_uc011lxt.1_Missense_Mutation_p.R313W|ASTN2_uc004bjo.1_Missense_Mutation_p.R42W NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1261 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGCCCATACCTGGGCCCCAGC 0.507 NA 5 45 0 0 0.000602 0 0 TOR1A 1861 broad.mit.edu 37 9 132584947 132584947 + Missense_Mutation SNP A A C TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:132584947A>C uc004byl.2 - 2 434 c.357T>G c.(355-357)ATT>ATG p.I119M TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Missense_Mutation_p.I119M NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 119 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) CACCCTCGTAAATATTCTCTG 0.488 NA 10 128 0 0 0.000978 0 0 NUP214 8021 broad.mit.edu 37 9 134034776 134034776 + Missense_Mutation SNP C C T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:134034776C>T uc004cag.2 + 18 2554 c.2443C>T c.(2443-2445)CGG>TGG p.R815W NUP214_uc004cah.2_Missense_Mutation_p.R805W|NUP214_uc004cai.2_Missense_Mutation_p.R245W|NUP214_uc004caf.1_Missense_Mutation_p.R804W|NUP214_uc010mzf.2_Missense_Mutation_p.R113W NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 815 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) ATAGGAAATTCGGCGCCTTCA 0.343 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 6 25 0 0 0.001984 0 0 CACNA1B 774 broad.mit.edu 37 9 140968458 140968458 + Silent SNP G G T TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:140968458G>T uc004cog.2 + 33 4942 c.4797G>T c.(4795-4797)CTG>CTT p.L1599L CACNA1B_uc004coi.2_Silent_p.L811L|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1599 Cytoplasmic (Potential).|IV. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGCAGGCCCTGCCCTACGTGT 0.577 NA 29 114 8.16721e-17 1.27045e-16 0.002096 1 0 FAM47C 442444 broad.mit.edu 37 X 37027425 37027425 + Silent SNP C C G TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chrX:37027425C>G uc004ddl.1 + 1 956 c.942C>G c.(940-942)CGC>CGG p.R314R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 314 ovary(3) 3 CCAAGTCACGCGTATCTCATC 0.607 NA 20 37 0 0 0.008871 0 0 ZIC3 7547 broad.mit.edu 37 X 136649338 136649338 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chrX:136649338C>A uc004fak.2 + 1 993 c.488C>A c.(487-489)CCC>CAC p.P163H NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 163 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TTGCTGTTTCCCGGGCTGCAT 0.711 NA 13 31 0.000308642 0.000367744 0.003163 1 0 AFF2 2334 broad.mit.edu 37 X 148037518 148037518 + Missense_Mutation SNP C C A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chrX:148037518C>A uc004fcp.2 + 11 2422 c.1943C>A c.(1942-1944)CCA>CAA p.P648Q AFF2_uc004fcq.2_Missense_Mutation_p.P638Q|AFF2_uc004fcr.2_Missense_Mutation_p.P609Q|AFF2_uc011mxb.1_Missense_Mutation_p.P613Q|AFF2_uc004fcs.2_Missense_Mutation_p.P615Q|AFF2_uc011mxc.1_Missense_Mutation_p.P289Q NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 648 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGGCCCAAACCAAATATTACC 0.478 NA 48 48 6.08268e-21 9.55038e-21 0.00361 1 0 F8 2157 broad.mit.edu 37 X 154159066 154159066 + Missense_Mutation SNP G G A TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chrX:154159066G>A uc004fmt.2 - 14 3170 c.2999C>T c.(2998-3000)CCT>CTT p.P1000L NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1000 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAACAAAGCAGGTCCATGAGC 0.343 NA 16 47 0 0 0.00499 0 0 FLT3 2322 broad.mit.edu 37 13 28589835 28589835 + Frame_Shift_Del DEL G G - TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr13:28589835delG uc001urw.2 - 21 2627 c.2545delC c.(2545-2547)CGTfs p.R849fs FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Del_p.R808fs NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 849 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ACAGGCAGACGGGCCTGTGGA 0.413 NA Mis|O AML|ALL 13 61 --- --- --- --- NA NA NA NA NA EIF2AK4 440275 broad.mit.edu 37 15 40268969 40268969 + Frame_Shift_Del DEL G G - TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr15:40268969delG uc001zkm.1 + 12 2223 c.2173delG c.(2173-2175)GCCfs p.A725fs EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.A454fs NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 725 Protein kinase 2. 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) CCGTTTCCCCGCCACCGGCCC 0.711 NA 10 89 --- --- --- --- NA NA NA NA NA C17orf87 388325 broad.mit.edu 37 17 5124612 5124612 + Frame_Shift_Del DEL T T - TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr17:5124612delT uc002gbh.2 - 3 212 c.179delA c.(178-180)CACfs p.H60fs uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Frame_Shift_Del_p.H53fs|C17orf87_uc002gbi.2_Frame_Shift_Del_p.H53fs NM_207103 NP_996986 Q6UWF3 CQ087_HUMAN hypothetical protein LOC388325 60 integral to membrane ovary(1) 1 TACTTGCTTGTGTTTCAGGGG 0.423 NA 8 95 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1207136 1207137 + Frame_Shift_Ins INS - - CTCCT TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr19:1207136_1207137insCTCCT uc002lrl.1 + 1 1339_1340 c.224_225insCTCCT c.(223-225)AGGfs p.R75fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 75 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTGCAGGAGGGCCGTCAAGA 0.619 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 9 19 --- --- --- --- NA NA NA NA NA PURA 5813 broad.mit.edu 37 5 139493896 139493898 + In_Frame_Del DEL GGC GGC - TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 GGC GGC - - GGC GGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr5:139493896_139493898delGGC uc003lfa.2 + 1 189_191 c.130_132delGGC c.(130-132)GGCdel p.G49del NM_005859 NP_005850 Q00577 PURA_HUMAN purine-rich element binding protein A 49 Gly-rich. DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) cggcggcagtggcggcggcggcg 0.517 NA 2 4 --- --- --- --- NA NA NA NA NA ASTN2 23245 broad.mit.edu 37 9 119976964 119976964 + Frame_Shift_Del DEL G G - rs149649522 TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chr9:119976964delG uc004bjs.1 - 3 789 c.688delC c.(688-690)CAGfs p.Q230fs ASTN2_uc004bjr.1_Frame_Shift_Del_p.Q230fs|ASTN2_uc004bjt.1_Frame_Shift_Del_p.Q230fs NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 230 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CAACGTCGCTGGGCGTACAGC 0.607 NA 7 60 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47041355 47041355 + Frame_Shift_Del DEL C C - TCGA-55-6983-01A-11D-1945-08 TCGA-55-6983-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6d4d37e4-0f9b-4f44-bda6-f4c280067d72 f71b30ee-ce4c-4a56-9cf9-ad2e139a5689 g.chrX:47041355delC uc004dhf.2 + 16 2078 c.1699delC c.(1699-1701)CCCfs p.P567fs RBM10_uc004dhg.2_Frame_Shift_Del_p.P489fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.P566fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.P490fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.P632fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 567 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CCTAGCTGTTCCCGACGTCTC 0.577 Melanoma(171;120 2705 19495 39241) NA 20 13 --- --- --- --- NA NA NA NA NA