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 SKI 6497 broad.mit.edu 37 1 2234776 2234776 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:2234776C>T uc001aja.3 + 3 1220 c.1148C>T c.(1147-1149)TCC>TTC p.S383F NM_003036 NP_003027 P12755 SKI_HUMAN v-ski sarcoma viral oncogene homolog 383 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CGACCCTGGTCCCCCGCAGTG 0.597 Ovarian(177;144 1678 13697 20086 27838 40755) NA 81 181 0 0 0.01441 0 0 CROCC 9696 broad.mit.edu 37 1 17292317 17292317 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:17292317T>C uc001azt.2 + 28 4574 c.4505T>C c.(4504-4506)CTG>CCG p.L1502P CROCC_uc001azu.2_Missense_Mutation_p.L805P|CROCC_uc001azv.2_5'Flank NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1502 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TCTCCAGACCTGGACCCGGAG 0.667 NA 11 35 0 0 0.008871 0 0 CNR2 1269 broad.mit.edu 37 1 24201958 24201958 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:24201958C>T uc001bif.2 - 2 277 c.150G>A c.(148-150)GAG>GAA p.E50E NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 50 Helical; Name=1; (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CAGCCACGTTCTCCAGGGCAC 0.557 NA 8 83 0 0 0.010729 0 0 BAI2 576 broad.mit.edu 37 1 32197007 32197007 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:32197007C>A uc001btn.2 - 29 4128 c.3774G>T c.(3772-3774)GAG>GAT p.E1258D BAI2_uc001btm.2_Missense_Mutation_p.E252D|BAI2_uc001btp.1_Missense_Mutation_p.E252D|BAI2_uc010ogn.1_Missense_Mutation_p.E228D|BAI2_uc010ogo.1_Missense_Mutation_p.E867D|BAI2_uc010ogp.1_Missense_Mutation_p.E1191D|BAI2_uc010ogq.1_Missense_Mutation_p.E1225D|BAI2_uc001bto.2_Missense_Mutation_p.E1258D NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1258 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AAGTGTTGACCTCCTTGAACA 0.627 NA 14 35 0.000566183 0.000618357 0.00499 1 0 KANK4 163782 broad.mit.edu 37 1 62740219 62740219 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:62740219G>T uc001dah.3 - 3 934 c.557C>A c.(556-558)GCC>GAC p.A186D KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 186 Pro-rich. ovary(3)|skin(2)|lung(1) 6 GGCAGGAGGGGCAGGGGGCCC 0.647 NA 15 22 5.03518e-11 6.60352e-11 0.007413 1 0 JAK1 3716 broad.mit.edu 37 1 65307190 65307190 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:65307190T>G uc001dbu.1 - 18 2747 c.2498A>C c.(2497-2499)AAT>ACT p.N833T JAK1_uc009wam.1_Missense_Mutation_p.N821T|JAK1_uc009wal.1_Missense_Mutation_p.N10T NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 833 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGGCCTCTGATTGGGGTCATA 0.493 NA Mis ALL 5 181 0 0 0.000602 0 0 LRRC7 57554 broad.mit.edu 37 1 70226072 70226072 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:70226072C>A uc001dep.2 + 1 215 c.185C>A c.(184-186)CCC>CAC p.P62H LRRC7_uc001deo.1_Missense_Mutation_p.P100H|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 62 LRR 2. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GAAGAACTACCCAAGGTAACT 0.353 NA 28 33 2.80507e-11 3.69392e-11 0.012213 1 0 BCL10 8915 broad.mit.edu 37 1 85736391 85736391 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:85736391T>C uc001dkz.2 - 3 961 c.256A>G c.(256-258)ATT>GTT p.I86V NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 86 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) TCTCGCCGAATAGATTCAACA 0.358 NSCLC(34;993 1034 12176 32621 50182) NA T IGH@ MALT 23 202 0 0 0.00333 0 0 IGSF3 3321 broad.mit.edu 37 1 117150688 117150688 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:117150688G>T uc001egr.1 - 5 1803 c.1098C>A c.(1096-1098)CTC>CTA p.L366L IGSF3_uc001egq.1_Silent_p.L366L|IGSF3_uc001egs.1_Silent_p.L39L NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 366 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CTTCCTGGCGGAGGTGGTAGA 0.537 NA 8 138 5.35267e-07 6.29725e-07 0.007413 1 0 TBX15 6913 broad.mit.edu 37 1 119467339 119467339 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:119467339G>T uc001ehl.1 - 4 620 c.305C>A c.(304-306)ACC>AAC p.T102N NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 208 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TCTCATCCAGGTGTCTCCAGA 0.458 NA 76 83 7.56961e-61 1.28844e-60 0.01441 1 0 ECM1 1893 broad.mit.edu 37 1 150484952 150484952 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:150484952C>T uc001eus.2 + 8 1407 c.1208C>T c.(1207-1209)CCC>CTC p.P403L ECM1_uc001eut.2_Missense_Mutation_p.P278L|ECM1_uc001euu.2_Missense_Mutation_p.P432L|ECM1_uc001euv.2_Missense_Mutation_p.P430L|ECM1_uc009wlu.2_Missense_Mutation_p.P163L NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 403 2 X approximate repeats.|2. 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) GCTCCTTACCCCAACTATGAC 0.572 Melanoma(156;1696 2560 11093 19685) NA 37 132 0 0 0.003755 0 0 PI4KB 5298 broad.mit.edu 37 1 151280153 151280153 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:151280153T>C uc001ext.2 - 4 1494 c.1079A>G c.(1078-1080)AAC>AGC p.N360S PI4KB_uc001exr.2_Missense_Mutation_p.N372S|PI4KB_uc001exs.2_Missense_Mutation_p.N345S|PI4KB_uc001exu.2_Missense_Mutation_p.N345S|PI4KB_uc010pcw.1_Missense_Mutation_p.N28S NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 360 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGCTTATGGTTGAGCAGGGA 0.587 Colon(154;765 1838 9854 28443 37492) NA 50 78 0 0 0.01441 0 0 FLG 2312 broad.mit.edu 37 1 152286049 152286049 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:152286049G>A uc001ezu.1 - 3 1349 c.1313C>T c.(1312-1314)TCA>TTA p.S438L uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 438 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGTGGCCTGACACTGATTG 0.587 NA Ichthyosis 128 403 0 0 0.01441 0 0 LCE2D 353141 broad.mit.edu 37 1 152636816 152636816 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:152636816C>G uc001fag.2 + 2 290 c.235C>G c.(235-237)CGT>GGT p.R79G NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 79 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACAGGCCCCGTCTCTTCCA 0.682 NA 59 47 0 0 0.01441 0 0 BGLAP 632 broad.mit.edu 37 1 156212901 156212901 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:156212901C>T uc001fnt.2 + 4 323 c.251C>T c.(250-252)GCT>GTT p.A84V BGLAP_uc001fns.1_3'UTR NM_199173 NP_954642 P02818 OSTCN_HUMAN osteocalcin preproprotein 84 Gla. bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation calcium ion binding|hydroxyapatite binding|structural constituent of bone 0 Hepatocellular(266;0.158) Phytonadione(DB01022) GACGAGTTGGCTGACCACATC 0.652 NA 4 189 0 0 0.000602 0 0 SPTA1 6708 broad.mit.edu 37 1 158597480 158597480 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:158597480C>G uc001fst.1 - 40 5798 c.5599G>C c.(5599-5601)GAC>CAC p.D1867H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1867 Spectrin 18. 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) ACAGCAAAGTCATTTTCCAAA 0.398 NA 104 109 0 0 0.01441 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888618 159888619 + Missense_Mutation DNP CC CC AA TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:159888618_159888619CC>AA uc001fum.1 - 4 621_622 c.571_572GG>TT c.(571-573)GGC>TTC p.G191F CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.G191F|TAGLN2_uc001fuo.1_3'UTR NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 191 Calponin-like. muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCCCGTAGCCAGTCATGCCT 0.545 NA 55 132 0 0 0.004672 0 0 DUSP27 92235 broad.mit.edu 37 1 167097069 167097069 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:167097069C>A uc001geb.1 + 5 2701 c.2701C>A c.(2701-2703)CGC>AGC p.R901S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 901 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 ATATTCTTCCCGCAGTAATTC 0.502 NA 28 89 1.45844e-13 1.9692e-13 0.013726 1 0 TNR 7143 broad.mit.edu 37 1 175336417 175336417 + Silent SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:175336417A>T uc001gkp.1 - 8 2061 c.1980T>A c.(1978-1980)ACT>ACA p.T660T TNR_uc009wwu.1_Silent_p.T660T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 660 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTCCATACTCAGTGCCAGGTA 0.483 NA 15 95 0 0 0.006122 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186823505 186823505 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:186823505T>A uc001gsc.2 + 2 224 c.19T>A c.(19-21)TAC>AAC p.Y7N PLA2G4A_uc010pos.1_Missense_Mutation_p.Y7N NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 7 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TATAGATCCTTACCAGCACAT 0.348 NA 6 45 0 0 0.001984 0 0 IGFN1 91156 broad.mit.edu 37 1 201184736 201184736 + Missense_Mutation SNP C C T rs149837907 by1000genomes TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:201184736C>T uc001gwc.2 + 4 1317 c.545C>T c.(544-546)CCG>CTG p.P182L IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 GCTGGGAAGCCGGTGATAGTG 0.562 NA 19 65 0 0 0.007413 0 0 ADORA1 134 broad.mit.edu 37 1 203134690 203134690 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:203134690G>C uc001gze.1 + 4 1076 c.643G>C c.(643-645)GTG>CTG p.V215L FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.V215L|ADORA1_uc010pqg.1_Missense_Mutation_p.V147L|ADORA1_uc009xak.1_Missense_Mutation_p.G140A|ADORA1_uc010pqh.1_Missense_Mutation_p.V248L NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 215 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAACAAGAAGGTGTCGGCCTC 0.567 NA 26 178 0 0 0.012213 0 0 CHIT1 1118 broad.mit.edu 37 1 203194938 203194938 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:203194938G>A uc001gzn.2 - 3 212 c.116C>T c.(115-117)GCT>GTT p.A39V FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.A49V NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 39 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CAGGAAGCGAGCCTCCCCCTG 0.577 NA 16 133 0 0 0.006122 0 0 KCNH1 3756 broad.mit.edu 37 1 211192154 211192154 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:211192154G>C uc001hib.2 - 6 1173 c.1003C>G c.(1003-1005)CCA>GCA p.P335A KCNH1_uc001hic.2_Intron NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 335 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGTGGTGGTGGAATCTGATCA 0.453 NA 15 259 0 0 0.004007 0 0 ESRRG 2104 broad.mit.edu 37 1 216850421 216850421 + Nonsense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:216850421G>A uc001hkw.1 - 2 635 c.469C>T c.(469-471)CAA>TAA p.Q157* ESRRG_uc001hky.1_Nonsense_Mutation_p.Q134*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Q162*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Q134* NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 157 Nuclear receptor. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CACTAACCTTGAATTGTCCTC 0.448 NA 17 92 0 0 0.006122 0 0 MARK1 4139 broad.mit.edu 37 1 220791808 220791808 + Nonsense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:220791808G>T uc001hmn.3 + 8 1306 c.709G>T c.(709-711)GAA>TAA p.E237* MARK1_uc009xdw.2_Nonsense_Mutation_p.E237*|MARK1_uc010pun.1_Nonsense_Mutation_p.E237*|MARK1_uc001hmm.3_Nonsense_Mutation_p.E215* NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 237 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TGATGGGCCTGAAGTGGATGT 0.433 NA 28 40 7.01153e-11 9.12069e-11 0.007291 1 0 ZNF238 10472 broad.mit.edu 37 1 244217323 244217323 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:244217323G>T uc001iae.2 + 1 742 c.220G>T c.(220-222)GCT>TCT p.A74S ZNF238_uc001iad.3_Missense_Mutation_p.A83S|ZNF238_uc001iaf.1_Missense_Mutation_p.A74S NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 74 BTB. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) TACAGCCCCCGCTTTCGCTCT 0.463 NA 91 70 8.26238e-36 1.33533e-35 0.01441 1 0 TFB2M 64216 broad.mit.edu 37 1 246714570 246714570 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:246714570T>C uc001ibn.2 - 5 865 c.740A>G c.(739-741)TAT>TGT p.Y247C TFB2M_uc010pys.1_RNA NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 247 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) TAATACATGATACAAGTCTGG 0.294 NA 22 71 0 0 0.00333 0 0 OR2G3 81469 broad.mit.edu 37 1 247769097 247769097 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:247769097C>A uc010pyz.1 + 1 210 c.210C>A c.(208-210)GAC>GAA p.D70E NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTTACTGGACATCTGCTTCA 0.438 NA 117 503 2.21805e-50 3.75543e-50 0.01441 1 0 OR2M4 26245 broad.mit.edu 37 1 248402862 248402862 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:248402862T>G uc010pzh.1 + 1 632 c.632T>G c.(631-633)GTT>GGT p.V211G NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 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) ATCTTTCCAGTTTCAGTTATC 0.463 NA 7 140 0 0 0.00308 0 0 OR2T11 127077 broad.mit.edu 37 1 248790027 248790027 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:248790027G>A uc001ier.1 - 1 403 c.403C>T c.(403-405)CGC>TGC p.R135C NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACTTCTTGCGGTTCATCAGG 0.547 NA 5 79 0 0 0.000602 0 0 DIP2C 22982 broad.mit.edu 37 10 395293 395293 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:395293G>A uc001ifp.2 - 25 3177 c.3087C>T c.(3085-3087)CAC>CAT p.H1029H DIP2C_uc009xhi.1_Silent_p.H415H NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1029 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CCAAGGCCACGTGGTCGCCGT 0.647 NA 25 23 0 0 0.00632 0 0 ITIH5 80760 broad.mit.edu 37 10 7618929 7618929 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:7618929C>T uc001ijq.2 - 10 1544 c.1465G>A c.(1465-1467)GAT>AAT p.D489N ITIH5_uc001ijp.2_Missense_Mutation_p.D275N|ITIH5_uc001ijr.1_Missense_Mutation_p.D489N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 489 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GGGGGATAATCGATGCGGATG 0.587 NA 14 65 0 0 0.003163 0 0 GATA3 2625 broad.mit.edu 37 10 8111435 8111435 + Splice_Site SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:8111435G>T uc001ika.2 + 5 1479 c.922_splice c.e5-1 p.S308_splice GATA3_uc001ijz.2_Splice_Site_p.S309_splice NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CCCACTCTCAGTCTGCAGCCA 0.483 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 8 85 5.18039e-06 5.92045e-06 0.00308 1 0 CUBN 8029 broad.mit.edu 37 10 16970156 16970156 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:16970156T>C uc001ioo.2 - 41 6323 c.6271A>G c.(6271-6273)AGC>GGC p.S2091G NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2091 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AACTCATTACTCTTGTGAAAG 0.368 NA 3 86 0 0 0.004672 0 0 MLLT10 8028 broad.mit.edu 37 10 22022812 22022812 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:22022812A>G uc001iqs.2 + 21 3008 c.2660A>G c.(2659-2661)AAT>AGT p.N887S MLLT10_uc001iqt.2_Missense_Mutation_p.N871S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.N871S|MLLT10_uc001ira.2_Missense_Mutation_p.N328S|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 887 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 CAGCAGGTCAATGGCGTGACA 0.557 NA T MLL|PICALM|CDK6 AL 31 42 0 0 0.008361 0 0 ARMC3 219681 broad.mit.edu 37 10 23297778 23297778 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:23297778T>A uc001irm.3 + 16 2046 c.1963T>A c.(1963-1965)TCT>ACT p.S655T ARMC3_uc010qcv.1_Missense_Mutation_p.S648T|ARMC3_uc010qcw.1_Missense_Mutation_p.S392T NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 655 binding 0 TGGATTTGGATCTCCCATAGA 0.338 NA 12 24 0 0 0.00245 0 0 GPR158 57512 broad.mit.edu 37 10 25887711 25887711 + Silent SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:25887711T>A uc001isj.2 + 11 3216 c.3156T>A c.(3154-3156)CCT>CCA p.P1052P GPR158_uc001isk.2_Silent_p.P427P NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1052 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ACCACAAGCCTAAGGCAGCTG 0.438 NA 24 93 0 0 0.00632 0 0 EPC1 80314 broad.mit.edu 37 10 32573955 32573955 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:32573955G>A uc001iwg.1 - 10 1685 c.1415C>T c.(1414-1416)TCA>TTA p.S472L EPC1_uc001iwi.3_Missense_Mutation_p.S422L|EPC1_uc009xlt.2_Missense_Mutation_p.S422L|EPC1_uc001iwh.1_Missense_Mutation_p.S472L NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 472 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) GTCATAGTCTGAATGAGCTCT 0.338 NA 31 106 0 0 0.003271 0 0 ZNF248 57209 broad.mit.edu 37 10 38120629 38120629 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:38120629C>A uc001izd.1 - 6 2153 c.1654G>T c.(1654-1656)GCA>TCA p.A552S ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.A552S NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 552 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCCACATGCATTACACTCA 0.428 NA 28 29 1.90571e-15 2.67468e-15 0.004289 1 0 TBC1D12 23232 broad.mit.edu 37 10 96291100 96291100 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:96291100G>A uc001kjr.2 + 12 2327 c.2142G>A c.(2140-2142)ATG>ATA p.M714I NM_015188 NP_056003 O60347 TBC12_HUMAN TBC1 domain family, member 12 714 intracellular Rab GTPase activator activity 0 Colorectal(252;0.0429) TCCTGCAGATGGACTTTATTC 0.388 NA 26 89 0 0 0.008361 0 0 SCGB1C1 147199 broad.mit.edu 37 11 193795 193795 + Nonsense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:193795G>T uc001loa.1 + 2 159 c.139G>T c.(139-141)GAG>TAG p.E47* ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 precursor 47 extracellular region binding skin(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GGAGCTCTATGAGGGGACCTT 0.537 NA 9 90 0.00448238 0.0047972 0.004482 1 0 TALDO1 6888 broad.mit.edu 37 11 763398 763398 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:763398C>T uc001lqz.2 + 5 566 c.516C>T c.(514-516)TTC>TTT p.F172F TALDO1_uc001lra.2_Silent_p.F172F NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 172 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) TCTTCTCCTTCGCCCAGGCTG 0.463 NA 26 148 0 0 0.013726 0 0 OR51A7 119687 broad.mit.edu 37 11 4928721 4928721 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:4928721G>T uc010qyq.1 + 1 122 c.122G>T c.(121-123)GGC>GTC p.G41V NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCATCATGGGCAACTGCACC 0.488 NA 46 117 6.32628e-17 9.03754e-17 0.01441 1 0 OR56A4 120793 broad.mit.edu 37 11 6023636 6023636 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:6023636G>A uc010qzv.1 - 1 743 c.743C>T c.(742-744)ACT>ATT p.T248I NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGATTGAAAGTGATGTCATC 0.428 NA 14 22 0 0 0.00278 0 0 TPH1 7166 broad.mit.edu 37 11 18044391 18044391 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:18044391C>T uc001mnp.2 - 9 1140 c.1114G>A c.(1114-1116)GTC>ATC p.V372I TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 372 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) ACAAAGTAGACATCTTGAAAA 0.403 NA 18 29 0 0 0.00499 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676384 20676384 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:20676384G>A uc001mqd.2 + 16 2637 c.2364G>A c.(2362-2364)GTG>GTA p.V788V SLC6A5_uc009yic.2_Silent_p.V553V NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 788 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) AACTGCCAGTGAAGGATTTGG 0.532 NA 5 213 0 0 0.00308 0 0 EHF 26298 broad.mit.edu 37 11 34668199 34668199 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:34668199T>C uc001mvr.1 + 3 422 c.311T>C c.(310-312)CTC>CCC p.L104P EHF_uc009yke.1_Missense_Mutation_p.L104P|EHF_uc009ykf.1_Missense_Mutation_p.L107P NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 104 PNT. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GGGCAGCTCCTCTACAGCAAC 0.552 NA 60 138 0 0 0.01441 0 0 SYT13 57586 broad.mit.edu 37 11 45307669 45307669 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:45307669A>G uc001myq.2 - 1 216 c.90T>C c.(88-90)TGT>TGC p.C30C SYT13_uc009yku.1_5'UTR NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 30 Cytoplasmic (Potential). transport vesicle ovary(1) 1 GCATGTGCCGACACAGGCAGG 0.687 NA 5 11 0 0 0.001984 0 0 CHRM4 1132 broad.mit.edu 37 11 46407047 46407047 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:46407047A>T uc001nct.1 - 1 1061 c.1061T>A c.(1060-1062)GTG>GAG p.V354E NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 354 Cytoplasmic (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) AATGGCTGTCACACACTCATT 0.657 Esophageal Squamous(171;1020 1936 4566 30205 42542) NA 24 134 0 0 0.008361 0 0 OR4X1 390113 broad.mit.edu 37 11 48285600 48285600 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:48285600A>G uc010rht.1 + 1 188 c.188A>G c.(187-189)TAC>TGC p.Y63C NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 TTTCTCAGCTACTTATCCTTT 0.493 NA 6 102 0 0 0.001168 0 0 OR4S1 256148 broad.mit.edu 37 11 48328454 48328454 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:48328454C>A uc010rhu.1 + 1 680 c.680C>A c.(679-681)TCA>TAA p.S227* NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGAAGCCAGTCATCTGAGGAC 0.468 NA 52 201 1.13205e-32 1.79334e-32 0.01441 1 0 OR4C13 283092 broad.mit.edu 37 11 49974727 49974727 + Silent SNP C C A rs150732180 TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:49974727C>A uc010rhz.1 + 1 753 c.753C>A c.(751-753)CCC>CCA p.P251P NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P251P(1) skin(3)|ovary(1) 4 CCTTTATACCCTGCATATTTG 0.418 NA 34 138 1.49673e-21 2.20716e-21 0.00623 1 0 OR4A16 81327 broad.mit.edu 37 11 55110823 55110823 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:55110823C>A uc010rie.1 + 1 147 c.147C>A c.(145-147)GGC>GGA p.G49G NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 CTACTATTGGCAGCCCCTCCT 0.413 NA 52 92 1.03172e-35 1.65905e-35 0.01441 1 0 SPRYD5 84767 broad.mit.edu 37 11 55658932 55658932 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:55658932T>A uc010rip.1 + 7 1275 c.1183T>A c.(1183-1185)TCC>ACC p.S395T SPRYD5_uc010riq.1_Missense_Mutation_p.S252T NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 395 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CTTTACCACCTCCCCACTTGT 0.448 NA 19 47 0 0 0.008871 0 0 OR8J1 219477 broad.mit.edu 37 11 56128013 56128013 + Nonsense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:56128013T>A uc010rjh.1 + 1 291 c.291T>A c.(289-291)TGT>TGA p.C97* NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCTATGAATGTGCCACCCAAC 0.413 NA 34 118 0 0 0.003755 0 0 PRPF19 27339 broad.mit.edu 37 11 60658726 60658726 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:60658726C>T uc001nqf.2 - 16 1634 c.1427G>A c.(1426-1428)GGC>GAC p.G476D NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 476 WD 7. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 TGTGGTCAGGCCGCTATGCTC 0.522 NA 11 39 0 0 0.008291 0 0 C11orf9 745 broad.mit.edu 37 11 61544847 61544847 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:61544847G>T uc001nsc.1 + 12 1798 c.1702G>T c.(1702-1704)GAT>TAT p.D568Y C11orf9_uc001nse.1_Missense_Mutation_p.D559Y|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 568 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 AGACCGGCCGGATGAGGCGCT 0.597 NA 16 50 7.07758e-08 8.54651e-08 0.004656 1 0 CNTN5 53942 broad.mit.edu 37 11 100211835 100211835 + Missense_Mutation SNP A A C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:100211835A>C uc001pga.2 + 23 3267 c.2928A>C c.(2926-2928)CAA>CAC p.Q976H CNTN5_uc001pgb.2_Missense_Mutation_p.Q902H|CNTN5_uc010ruk.1_Missense_Mutation_p.Q247H NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 976 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTCCTAGTCAAGCACCTAGCA 0.423 NA 5 96 0 0 0.000602 0 0 PRDM10 56980 broad.mit.edu 37 11 129794872 129794872 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:129794872G>A uc001qfm.2 - 13 2027 c.1795C>T c.(1795-1797)CGC>TGC p.R599C PRDM10_uc001qfj.2_Missense_Mutation_p.R513C|PRDM10_uc001qfk.2_Missense_Mutation_p.R509C|PRDM10_uc001qfl.2_Missense_Mutation_p.R513C|PRDM10_uc010sbx.1_Missense_Mutation_p.R509C|PRDM10_uc001qfn.2_Missense_Mutation_p.R595C NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 599 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AAATCAAGGCGGTCAAAGGAT 0.453 NA 33 112 0 0 0.003271 0 0 CD163L1 283316 broad.mit.edu 37 12 7586276 7586276 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:7586276C>A uc001qsy.2 - 3 165 c.139G>T c.(139-141)GAG>TAG p.E47* CD163L1_uc010sge.1_Nonsense_Mutation_p.E47* NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 47 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGCCTCAACTCCAAATCTGTT 0.458 NA 12 53 0.000308642 0.00034057 0.003163 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 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) 11 10 1.08611e-07 1.3017e-07 0.010729 1 0 SYT10 341359 broad.mit.edu 37 12 33529829 33529829 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:33529829C>G uc001rll.1 - 7 1805 c.1508G>C c.(1507-1509)GGC>GCC p.G503A SYT10_uc009zju.1_Missense_Mutation_p.G313A NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 503 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GGTCGCCCGGCCAGGTAACTG 0.398 NA 26 49 0 0 0.005443 0 0 WNT10B 7480 broad.mit.edu 37 12 49362049 49362049 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:49362049C>A uc001rss.2 - 4 737 c.391G>T c.(391-393)GCA>TCA p.A131S WNT10B_uc001rst.2_Missense_Mutation_p.A131S NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 131 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 GTGGCTACTGCGTGCATGACC 0.602 NA 15 28 1.5739e-10 2.02268e-10 0.004007 1 0 FMNL3 91010 broad.mit.edu 37 12 50045755 50045755 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:50045755G>A uc001ruv.1 - 14 1798 c.1564C>T c.(1564-1566)CCA>TCA p.P522S FMNL3_uc001ruw.1_Missense_Mutation_p.P471S|FMNL3_uc001rut.1_Missense_Mutation_p.P88S|FMNL3_uc001ruu.1_Missense_Mutation_p.P372S NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 522 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 GGCGGAGCTGGTGGTGGAGGA 0.647 NA 4 17 0 0 0.000602 0 0 ERBB3 2065 broad.mit.edu 37 12 56489093 56489093 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:56489093G>T uc001sjh.2 + 16 2105 c.1912G>T c.(1912-1914)GGC>TGC p.G638C ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_5'UTR|ERBB3_uc010sqc.1_Missense_Mutation_p.G579C|ERBB3_uc009zok.2_Missense_Mutation_p.G80C|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 638 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGTGCTGATCGGGTATGATGG 0.502 NA 39 70 4.01765e-15 5.58978e-15 0.009718 1 0 SLC39A5 283375 broad.mit.edu 37 12 56629465 56629465 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:56629465G>A uc010sqj.1 + 8 1183 c.926G>A c.(925-927)CGG>CAG p.R309Q SLC39A5_uc010sqi.1_Missense_Mutation_p.R200Q|SLC39A5_uc010sqk.1_Missense_Mutation_p.R309Q NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 309 Cytoplasmic (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 GGGCTTTTGCGGCACCGAGGG 0.552 NA 10 316 0 0 0.008291 0 0 DPY19L2 283417 broad.mit.edu 37 12 63974596 63974596 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:63974596G>T uc001srp.1 - 19 1927 c.1746C>A c.(1744-1746)CGC>CGA p.R582R DPY19L2_uc010sso.1_Silent_p.R29R NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 582 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AACGAACTCTGCGAAAAAGCC 0.368 NA 19 37 3.62473e-10 4.62117e-10 0.012319 1 0 E2F7 144455 broad.mit.edu 37 12 77424063 77424063 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:77424063C>G uc001sym.3 - 10 1668 c.1432G>C c.(1432-1434)GAC>CAC p.D478H E2F7_uc009zse.2_5'UTR NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 478 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 GCAACAGGGTCCAAGCTGCTT 0.468 NA 67 159 0 0 0.01441 0 0 IFT81 28981 broad.mit.edu 37 12 110574609 110574609 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:110574609G>A uc001tqi.2 + 8 855 c.725G>A c.(724-726)AGA>AAA p.R242K IFT81_uc001tqh.2_Missense_Mutation_p.R242K|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.R242K NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 242 Potential. cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 AGATTGCAAAGAGTACAAAAC 0.348 NA 11 30 0 0 0.001855 0 0 ACAD10 80724 broad.mit.edu 37 12 112174763 112174763 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:112174763C>T uc001tsq.2 + 12 1869 c.1669C>T c.(1669-1671)CGT>TGT p.R557C ACAD10_uc001tsp.2_Missense_Mutation_p.R557C|ACAD10_uc009zvx.2_Missense_Mutation_p.R588C|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 557 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TTCCTTTTTCCGTGTGGCTGC 0.532 NA 4 123 0 0 0.009096 0 0 IQCD 115811 broad.mit.edu 37 12 113645421 113645421 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:113645421A>G uc001tuv.1 - 2 973 c.551T>C c.(550-552)ATT>ACT p.I184T IQCD_uc001tuu.2_Missense_Mutation_p.I184T NM_138451 NP_612460 Q96DY2 IQCD_HUMAN IQ motif containing D 184 ovary(1) 1 CAGGCTGTCAATAAAATTCTG 0.498 NA 3 132 0 0 0.004672 0 0 TBX3 6926 broad.mit.edu 37 12 115120699 115120699 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:115120699G>T uc001tvt.1 - 1 1271 c.307C>A c.(307-309)CCC>ACC p.P103T TBX3_uc001tvu.1_Missense_Mutation_p.P103T|TBX3_uc010syw.1_Missense_Mutation_p.P103T NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 103 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TGCACCTTGGGGTCGTCCTCC 0.622 NA 22 49 1.1804e-14 1.62813e-14 0.003954 1 0 ZCCHC8 55596 broad.mit.edu 37 12 122958283 122958283 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:122958283C>A uc001ucn.2 - 14 2016 c.1885G>T c.(1885-1887)GTC>TTC p.V629F ZCCHC8_uc001ucl.2_Missense_Mutation_p.V240F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.V391F NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 629 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TTTGGTACGACACTGCCATTA 0.498 NA 13 251 2.27111e-07 2.70169e-07 0.013537 1 0 PIWIL1 9271 broad.mit.edu 37 12 130841526 130841526 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:130841526G>T uc001uik.2 + 13 1558 c.1468G>T c.(1468-1470)GTT>TTT p.V490F PIWIL1_uc001uij.1_Missense_Mutation_p.V490F NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 490 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATTAATTAGTGTTAAGCCACT 0.368 NA 18 80 1.00905e-13 1.3682e-13 0.008871 1 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221403 20221403 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr13:20221403G>T uc001umh.2 + 3 1199 c.1190G>T c.(1189-1191)GGC>GTC p.G397V MPHOSPH8_uc001umf.1_Missense_Mutation_p.G397V|MPHOSPH8_uc001umg.2_Missense_Mutation_p.G397V|MPHOSPH8_uc001umi.2_Missense_Mutation_p.G94V NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 397 cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GAAGAGAGAGGCCTCTGGTCC 0.542 NA 14 22 6.94344e-10 8.74764e-10 0.006122 1 0 BRCA2 675 broad.mit.edu 37 13 32907276 32907276 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr13:32907276G>T uc001uub.1 + 10 1888 c.1661G>T c.(1660-1662)TGT>TTT p.C554F BRCA2_uc001uua.1_Missense_Mutation_p.C431F NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 554 C -> W (in BC and pancreas cancer). cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GACTCCTTATGTCCAAATTTA 0.383 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 46 48 5.7616e-29 8.95006e-29 0.01441 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412026 105412026 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr14:105412026G>T uc010axc.1 - 7 9882 c.9762C>A c.(9760-9762)GAC>GAA p.D3254E AHNAK2_uc001ypx.2_Missense_Mutation_p.D3154E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3254 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTTTCAGGTCCAGCTTGG 0.607 NA 17 121 2.81731e-10 3.60616e-10 0.010818 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412521 105412521 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr14:105412521G>T uc010axc.1 - 7 9387 c.9267C>A c.(9265-9267)GAC>GAA p.D3089E AHNAK2_uc001ypx.2_Missense_Mutation_p.D2989E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3089 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCTTTCAGGTCCAGCTTGG 0.612 NA 11 120 3.8784e-16 5.49155e-16 0.012319 1 0 GJD2 57369 broad.mit.edu 37 15 35045068 35045068 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr15:35045068C>A uc001zis.1 - 2 577 c.577G>T c.(577-579)GAA>TAA p.E193* uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 193 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GAGATGCCTTCCTGCCTTCTG 0.488 NA 78 86 9.59377e-39 1.60733e-38 0.01441 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42109166 42109166 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr15:42109166G>T uc001zok.3 + 15 1948 c.1662G>T c.(1660-1662)GGG>GGT p.G554G MAPKBP1_uc001zoj.3_Silent_p.G548G|MAPKBP1_uc010bcj.2_Silent_p.G55G|MAPKBP1_uc010bci.2_Silent_p.G548G|MAPKBP1_uc010udb.1_Silent_p.G387G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G55G NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 554 WD 8. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TGGATGCCGGGCGGGAGTACA 0.582 NA 30 55 8.4185e-14 1.14635e-13 0.012213 1 0 CTDSPL2 51496 broad.mit.edu 37 15 44806806 44806806 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr15:44806806G>C uc001ztr.2 + 9 1396 c.980G>C c.(979-981)AGA>ACA p.R327T CTDSPL2_uc001zts.2_Missense_Mutation_p.R327T|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R327T|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R255T NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 327 FCP1 homology. phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) GTTTATGTGAGATTAAGACCA 0.294 NA 14 40 0 0 0.00499 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063372 48063372 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr15:48063372G>A uc010bek.2 + 19 2972 c.2612G>A c.(2611-2613)CGT>CAT p.R871H SEMA6D_uc001zvw.2_Missense_Mutation_p.R809H|SEMA6D_uc001zvy.2_Missense_Mutation_p.R871H|SEMA6D_uc001zvz.2_Missense_Mutation_p.R815H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R809H|SEMA6D_uc001zwc.2_Missense_Mutation_p.R796H NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 871 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GATCACCGGCGTTCTGTTGAT 0.443 NA 24 82 0 0 0.00278 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621915 65621915 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr15:65621915A>G uc002aos.2 - 13 2270 c.2018T>C c.(2017-2019)GTG>GCG p.V673A IGDCC3_uc002aor.1_5'UTR NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 673 Cytoplasmic (Potential). ovary(3) 3 CTGGTTTTCCACATCTTTACA 0.612 NA 33 57 0 0 0.003271 0 0 MSLNL 401827 broad.mit.edu 37 16 830202 830202 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:830202G>T uc002cjz.1 - 3 799 c.799C>A c.(799-801)CCT>ACT p.P267T NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 512 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 GCGGGAGCAGGGGCCGGGGCA 0.677 NA 4 27 5.9392e-07 6.9617e-07 0.001168 1 0 ACSM2A 123876 broad.mit.edu 37 16 20491954 20491954 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:20491954G>A uc010bwe.2 + 12 1580 c.1341G>A c.(1339-1341)CGG>CGA p.R447R ACSM2A_uc010vax.1_Silent_p.R368R|ACSM2A_uc002dhf.3_Silent_p.R447R|ACSM2A_uc002dhg.3_Silent_p.R447R|ACSM2A_uc010vay.1_Silent_p.R368R|ACSM2A_uc002dhh.3_Silent_p.R77R NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 447 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 TTGGAGACCGGGGAATCAAAG 0.493 NA 14 74 0 0 0.005443 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554525 20554525 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:20554525C>T uc002dhj.3 - 12 1551 c.1341G>A c.(1339-1341)CGG>CGA p.R447R ACSM2B_uc002dhk.3_Silent_p.R447R|ACSM2B_uc010bwf.1_Silent_p.R447R NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 447 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CTTTGATTCCCCGGTCTCCAA 0.493 NA 29 375 0 0 0.012213 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498858 31498858 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:31498858C>T uc002ecf.3 + 7 682 c.663C>T c.(661-663)CAC>CAT p.H221H SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 221 Helical; (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 CAGCCTTCCACGAGGTGGGCG 0.657 NA 18 88 0 0 0.00278 0 0 MYLK3 91807 broad.mit.edu 37 16 46764575 46764575 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:46764575G>C uc002eei.3 - 5 1614 c.1498C>G c.(1498-1500)CGG>GGG p.R500G MYLK3_uc010vge.1_Missense_Mutation_p.R159G|MYLK3_uc002eej.1_Missense_Mutation_p.R159G NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 500 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTCACTACCCGGTGTTCAAAA 0.607 NA 41 43 0 0 0.011902 0 0 HYDIN 54768 broad.mit.edu 37 16 70896074 70896074 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:70896074C>A uc002ezr.2 - 69 11779 c.11651G>T c.(11650-11652)GGT>GTT p.G3884V HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3885 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CTGTGGGGAACCCTCGGCCCA 0.562 NA 12 19 0.000978159 0.00106105 0.010729 1 0 PMFBP1 83449 broad.mit.edu 37 16 72159911 72159911 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr16:72159911T>G uc002fcc.3 - 15 2396 c.2224A>C c.(2224-2226)AAG>CAG p.K742Q PMFBP1_uc002fcd.2_Missense_Mutation_p.K737Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.K592Q|PMFBP1_uc010cgo.1_Missense_Mutation_p.K33Q NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 742 ovary(2) 2 Ovarian(137;0.179) GCGGCTGACTTCCGGGATAAT 0.542 NA 52 66 0 0 0.01441 0 0 MED24 9862 broad.mit.edu 37 17 38179414 38179414 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:38179414G>A uc002htt.2 - 20 2533 c.2220C>T c.(2218-2220)GGC>GGT p.G740G MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.G75G|MED24_uc010wes.1_Silent_p.G600G|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.G765G|MED24_uc002htu.2_Silent_p.G727G|MED24_uc010cwn.2_Silent_p.G727G|MED24_uc010weu.1_Silent_p.G650G|MED24_uc010wev.1_Silent_p.G690G|MED24_uc010wew.1_Silent_p.G681G NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 740 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) ACCAGTAGACGCCGCCCATGT 0.592 NA 17 27 0 0 0.007413 0 0 KRT17 3872 broad.mit.edu 37 17 39778677 39778677 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:39778677C>A uc002hxh.2 - 3 723 c.602G>T c.(601-603)AGA>ATA p.R201I JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 201 Coil 1B.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) CAGGTCGGCTCTGGCCAGGGT 0.602 Pancreas(92;1242 2086 39193 50508) NA Steatocystoma_Multiplex 74 124 1.15773e-35 1.85237e-35 0.01441 1 0 DBF4B 80174 broad.mit.edu 37 17 42825784 42825784 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:42825784C>T uc002ihf.2 + 13 1353 c.1140C>T c.(1138-1140)CCC>CCT p.P380P DBF4B_uc002ihe.2_Silent_p.P194P|DBF4B_uc010wjc.1_Silent_p.P364P NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 380 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) CCTCCCATCCCAGGGCAGCAT 0.582 NA 30 160 0 0 0.012213 0 0 TUBD1 51174 broad.mit.edu 37 17 57968330 57968330 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:57968330C>A uc002ixw.1 - 2 312 c.34G>T c.(34-36)GGC>TGC p.G12C TUBD1_uc010ddf.1_Missense_Mutation_p.G12C|TUBD1_uc010ddg.1_Intron|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.G12C|TUBD1_uc002ixx.1_Missense_Mutation_p.G12C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.G12C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 12 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) ATCTGATTGCCACACTGACCA 0.408 NA 42 88 5.44703e-19 7.85157e-19 0.009718 1 0 HELZ 9931 broad.mit.edu 37 17 65082999 65082999 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:65082999G>C uc010wqk.1 - 32 5630 c.5443C>G c.(5443-5445)CAG>GAG p.Q1815E HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1814E NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGAATGTTCTGATAAGGAGTA 0.478 NA 33 172 0 0 0.003755 0 0 UNC13D 201294 broad.mit.edu 37 17 73832735 73832735 + Missense_Mutation SNP C C T rs149099554 TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:73832735C>T uc002jpp.2 - 14 1596 c.1216G>A c.(1216-1218)GGC>AGC p.G406S UNC13D_uc010wsk.1_Missense_Mutation_p.G406S|UNC13D_uc002jpq.1_Missense_Mutation_p.G56S|UNC13D_uc010dgq.1_Missense_Mutation_p.G202S NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 406 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGGAGAGGCCGTAGGTCAGC 0.637 NA Familial_Hemophagocytic_Lymphohistiocytosis 20 60 0 0 0.00333 0 0 TRIM47 91107 broad.mit.edu 37 17 73870695 73870695 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:73870695G>A uc002jpw.2 - 6 1813 c.1786C>T c.(1786-1788)CGC>TGC p.R596C TRIM47_uc002jpv.2_Missense_Mutation_p.R358C NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 596 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGTCCAGGCGGCTCTGGAAG 0.657 NA 43 105 0 0 0.01441 0 0 SEC14L1 6397 broad.mit.edu 37 17 75187325 75187325 + Silent SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:75187325T>C uc002jto.2 + 5 543 c.276T>C c.(274-276)ACT>ACC p.T92T SEC14L1_uc010dhc.2_Silent_p.T92T|SEC14L1_uc010wth.1_Silent_p.T92T|SEC14L1_uc002jtm.2_Silent_p.T92T|SEC14L1_uc010wti.1_Silent_p.T58T NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 92 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding ovary(2) 2 GGGAACGTACTTTGCACATTG 0.368 NA 4 251 0 0 0.009096 0 0 GAA 2548 broad.mit.edu 37 17 78078846 78078846 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:78078846G>T uc002jxo.2 + 3 643 c.461G>T c.(460-462)CGT>CTT p.R154L GAA_uc002jxp.2_Missense_Mutation_p.R154L|GAA_uc002jxq.2_Missense_Mutation_p.R154L NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 154 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ACCCTGACCCGTACCACCCCC 0.627 NA 19 37 1.37657e-19 1.99322e-19 0.012319 1 0 AZI1 22994 broad.mit.edu 37 17 79165040 79165040 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr17:79165040G>T uc002jzp.1 - 22 2927 c.2727C>A c.(2725-2727)GCC>GCA p.A909A AZI1_uc002jzm.1_Silent_p.A341A|AZI1_uc002jzn.1_Silent_p.A906A|AZI1_uc002jzo.1_Silent_p.A870A|AZI1_uc010wum.1_Silent_p.A873A|AZI1_uc002jzq.2_Silent_p.A57A NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 909 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCGCCATGTCGGCCTCCAGCC 0.652 NA 12 68 1.52009e-12 2.02679e-12 0.003163 1 0 SMCHD1 23347 broad.mit.edu 37 18 2656197 2656197 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:2656197G>T uc002klm.3 + 1 312 c.123G>T c.(121-123)GGG>GGT p.G41G NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 41 chromosome organization ATP binding 0 CCGAGCTCGGGGACCGGCCTC 0.667 NA 9 16 0.000442599 0.00048504 0.006214 1 0 EPB41L3 23136 broad.mit.edu 37 18 5419763 5419763 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:5419763G>A uc002kmt.1 - 12 1539 c.1453C>T c.(1453-1455)CGG>TGG p.R485W EPB41L3_uc010wzh.1_Missense_Mutation_p.R503W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R503W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R394W|EPB41L3_uc002kms.1_Translation_Start_Site|EPB41L3_uc010wze.1_Translation_Start_Site|EPB41L3_uc010wzf.1_Translation_Start_Site|EPB41L3_uc010wzg.1_Translation_Start_Site|EPB41L3_uc010dkr.2_Missense_Mutation_p.R64W NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 485 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 cccttcctccgtttgtcctct 0.373 NA 4 86 0 0 0.000602 0 0 LAMA1 284217 broad.mit.edu 37 18 6986344 6986344 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:6986344G>T uc002knm.2 - 37 5265 c.5171C>A c.(5170-5172)GCT>GAT p.A1724D LAMA1_uc010wzj.1_Missense_Mutation_p.A1200D NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1724 Domain II and I.|Potential. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCTTCAGCAGCCCTGATAAA 0.363 NA 31 89 6.04164e-23 9.03423e-23 0.010818 1 0 RBBP8 5932 broad.mit.edu 37 18 20577615 20577615 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:20577615A>G uc002ktw.2 + 14 2392 c.2061A>G c.(2059-2061)ACA>ACG p.T687T RBBP8_uc002kty.2_Silent_p.T687T|RBBP8_uc002ktz.2_Silent_p.T687T|RBBP8_uc002kua.2_Silent_p.T687T|RBBP8_uc010xap.1_Silent_p.T20T NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 687 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GAGGAGAGACAGTGGACATGG 0.289 NA Direct_reversal_of_damage|Homologous_recombination 6 7 0 0 0.00308 0 0 C18orf34 374864 broad.mit.edu 37 18 30913319 30913319 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:30913319C>A uc002kxn.2 - 9 840 c.698G>T c.(697-699)TGG>TTG p.W233L C18orf34_uc010xbr.1_Missense_Mutation_p.W233L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.W233L|C18orf34_uc002kxp.2_Missense_Mutation_p.W233L NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 233 Potential. ovary(1) 1 TTCAAGATGCCATTGTAATTC 0.308 NA 8 53 0.000442599 0.00048504 0.006214 1 0 MBD1 4152 broad.mit.edu 37 18 47800612 47800612 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:47800612C>A uc010dow.1 - 11 1527 c.1090G>T c.(1090-1092)GGC>TGC p.G364C MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.G314C|MBD1_uc010xdi.1_Missense_Mutation_p.G415C|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.G364C|MBD1_uc002lei.3_Missense_Mutation_p.G364C|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.G315C|MBD1_uc002lel.3_Missense_Mutation_p.G341C|MBD1_uc002lem.3_Missense_Mutation_p.G364C|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.G389C|MBD1_uc010dox.1_Missense_Mutation_p.G341C|MBD1_uc002leo.2_Missense_Mutation_p.G364C NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 364 CXXC-type 3. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGGTTGCTGCCCCCGAATTTG 0.652 NA 46 56 3.21987e-24 4.86018e-24 0.01441 1 0 CDH7 1005 broad.mit.edu 37 18 63477091 63477091 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:63477091G>T uc002ljz.2 + 3 687 c.362G>T c.(361-363)CGA>CTA p.R121L CDH7_uc002lka.2_Missense_Mutation_p.R121L|CDH7_uc002lkb.2_Missense_Mutation_p.R121L NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 121 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) TACACGCTCCGAGCTCAAGCG 0.493 NA 8 65 0.00307968 0.00330704 0.00308 1 0 CNDP1 84735 broad.mit.edu 37 18 72228242 72228242 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr18:72228242C>T uc002llq.2 + 4 666 c.455C>T c.(454-456)ACG>ATG p.T152M uc002llr.2_5'Flank NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 152 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TATGTGCTGACGGAGGTAGAC 0.627 Melanoma(32;1029 1042 25286 38395 44237) NA 37 56 0 0 0.003755 0 0 FZR1 51343 broad.mit.edu 37 19 3525945 3525945 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:3525945C>A uc010dtk.2 + 2 183 c.149C>A c.(148-150)CCC>CAC p.P50H FZR1_uc002lxt.2_Missense_Mutation_p.P50H|FZR1_uc002lxv.2_Missense_Mutation_p.P50H NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 50 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTTCATCCCCTCCAGAGCC 0.667 NA 6 35 2.0095e-06 2.32144e-06 0.001984 1 0 PTPRS 5802 broad.mit.edu 37 19 5210581 5210581 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:5210581C>A uc002mbv.2 - 35 5620 c.5386G>T c.(5386-5388)GCC>TCC p.A1796S PTPRS_uc002mbu.1_Missense_Mutation_p.A1365S|PTPRS_uc010xin.1_Missense_Mutation_p.A1338S|PTPRS_uc002mbw.2_Missense_Mutation_p.A1758S|PTPRS_uc002mbx.2_Missense_Mutation_p.A1353S|PTPRS_uc002mby.2_Missense_Mutation_p.A1349S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1796 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. 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) GAGCGCTCGGCCGGCCAGTAC 0.607 NA 12 46 1.15088e-07 1.37418e-07 0.004007 1 0 TUBB4 10382 broad.mit.edu 37 19 6496231 6496231 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:6496231G>A uc002mfg.1 - 4 386 c.279C>T c.(277-279)GGC>GGT p.G93G TUBB4_uc002mff.1_Silent_p.G21G NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 93 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CTCCGGATTGGCCTAGAGAGG 0.612 NA 32 31 0 0 0.013726 0 0 MUC16 94025 broad.mit.edu 37 19 9066581 9066581 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:9066581C>G uc002mkp.2 - 3 21069 c.20865G>C c.(20863-20865)GAG>GAC p.E6955D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6957 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAATGCTGGTCTCTCTCAGTC 0.448 NA 20 234 0 0 0.007413 0 0 FDX1L 112812 broad.mit.edu 37 19 10421173 10421173 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:10421173T>C uc002mny.1 - 5 560 c.541A>G c.(541-543)AAG>GAG p.K181E ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 181 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CAGTGGGGCTTGGGGACATGG 0.612 NA 5 62 0 0 0.001168 0 0 FDX1L 112812 broad.mit.edu 37 19 10421195 10421195 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:10421195G>C uc002mny.1 - 5 538 c.519C>G c.(517-519)TTC>TTG p.F173L ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 173 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CATCCACGTAGAAGTTCCTGG 0.607 NA 6 60 0 0 0.001984 0 0 KRI1 65095 broad.mit.edu 37 19 10665777 10665777 + Silent SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:10665777T>G uc002moy.1 - 18 1794 c.1785A>C c.(1783-1785)TCA>TCC p.S595S KRI1_uc002mow.1_Silent_p.S214S|KRI1_uc002mox.1_Silent_p.S591S NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 595 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ctCGGCAGAGTGACTTGAAGA 0.328 NA 4 67 0 0 0.009096 0 0 CASP14 23581 broad.mit.edu 37 19 15164396 15164396 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:15164396G>A uc010dzv.1 + 3 439 c.131G>A c.(130-132)CGG>CAG p.R44Q CASP14_uc002naf.2_Missense_Mutation_p.R44Q NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 44 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 CACATGTTTCGGCAGCTGAGA 0.527 NA 25 103 0 0 0.008361 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728561 20728561 + Missense_Mutation SNP A A C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:20728561A>C uc002npa.2 - 4 628 c.448T>G c.(448-450)TAT>GAT p.Y150D NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 150 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 ACTTTCACATATTTATCACAC 0.299 NA 6 26 0 0 0.001984 0 0 ZNF98 148198 broad.mit.edu 37 19 22605017 22605017 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:22605017G>T uc002nqt.2 - 1 132 c.10C>A c.(10-12)CCC>ACC p.P4T NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CTTCCAAGGGGTCCTGGCATC 0.597 NA 20 118 6.44725e-10 8.15463e-10 0.014323 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39907024 39907024 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:39907024C>T uc010xuz.1 + 5 841 c.516C>T c.(514-516)GCC>GCT p.A172A PLEKHG2_uc010xuy.1_Silent_p.A113A|PLEKHG2_uc002olj.2_Silent_p.A172A|PLEKHG2_uc010xva.1_5'UTR NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 172 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCAGCAGCGCCGGGGGTATTG 0.667 NA 13 152 0 0 0.00245 0 0 PSG8 440533 broad.mit.edu 37 19 43262242 43262242 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:43262242G>T uc002ouo.2 - 3 719 c.621C>A c.(619-621)GTC>GTA p.V207V PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.V46V|PSG8_uc002ouh.2_Silent_p.V207V|PSG8_uc010ein.2_Silent_p.V85V|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Silent_p.V46V|PSG8_uc002oul.3_Silent_p.V207V|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 207 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) TGTACTTTGTGACACCCAATA 0.512 NA 157 187 1.34836e-70 2.31975e-70 0.01441 1 0 ZFP112 7771 broad.mit.edu 37 19 44832283 44832283 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:44832283G>A uc010ejj.2 - 5 2158 c.2045C>T c.(2044-2046)GCC>GTC p.A682V ZFP112_uc002ozc.3_Missense_Mutation_p.A676V|ZFP112_uc010xwy.1_Missense_Mutation_p.A699V|ZFP112_uc010xwz.1_Missense_Mutation_p.A681V NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 682 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 CCTCTGATGGGCCAAAAGTGT 0.438 Melanoma(53;975 1202 7512 15993 27273) NA 4 80 0 0 0.009096 0 0 ZNF615 284370 broad.mit.edu 37 19 52497466 52497466 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:52497466T>C uc002pye.1 - 6 1155 c.863A>G c.(862-864)TAC>TGC p.Y288C ZNF615_uc002pyf.1_Missense_Mutation_p.Y299C|ZNF615_uc002pyg.1_Missense_Mutation_p.Y180C|ZNF615_uc002pyh.1_Missense_Mutation_p.Y299C|ZNF615_uc010epi.1_Missense_Mutation_p.Y295C|ZNF615_uc010ydg.1_Missense_Mutation_p.Y293C NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 288 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCTACATGTGTAAGGTTTCCC 0.408 NA 7 166 0 0 0.00308 0 0 LILRB2 10288 broad.mit.edu 37 19 54782221 54782221 + Missense_Mutation SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:54782221C>T uc002qfb.2 - 7 1417 c.1151G>A c.(1150-1152)AGT>AAT p.S384N LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S384N|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S384N|LILRB2_uc010yet.1_Missense_Mutation_p.S268N|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 384 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCACAGGACTCATGGGGAA 0.577 NA 35 149 0 0 0.004289 0 0 BRSK1 84446 broad.mit.edu 37 19 55814218 55814218 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:55814218C>A uc002qkg.2 + 10 1288 c.1011C>A c.(1009-1011)CGC>CGA p.R337R BRSK1_uc002qkf.2_Silent_p.R353R|BRSK1_uc002qkh.2_Silent_p.R32R NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 337 UBA. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GGCTGCATCGCGAGCTGCGCA 0.657 NA 31 41 1.06801e-11 1.41811e-11 0.009535 1 0 NLRP5 126206 broad.mit.edu 37 19 56539603 56539603 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:56539603G>T uc002qmj.2 + 7 2004 c.2004G>T c.(2002-2004)TGG>TGT p.W668C NLRP5_uc002qmi.2_Missense_Mutation_p.W649C NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 668 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCTGCACTGGGTCTCTCTGT 0.572 NA 35 48 9.8876e-21 1.4382e-20 0.004878 1 0 ZNF419 79744 broad.mit.edu 37 19 58005275 58005275 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:58005275T>G uc002qov.2 + 5 1590 c.1350T>G c.(1348-1350)ATT>ATG p.I450M ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.I451M|ZNF419_uc010etz.1_Missense_Mutation_p.I438M|ZNF419_uc010eua.1_Missense_Mutation_p.I437M|ZNF419_uc002qow.2_Missense_Mutation_p.I418M|ZNF419_uc010eub.1_Missense_Mutation_p.I405M|ZNF419_uc010euc.1_Missense_Mutation_p.I404M NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) AAGTTCACATTGGAGAAAAGC 0.428 NA 3 175 0 0 0.009096 0 0 TRIM28 10155 broad.mit.edu 37 19 59060467 59060467 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr19:59060467G>C uc002qtg.1 + 12 1811 c.1522G>C c.(1522-1524)GTC>CTC p.V508L TRIM28_uc010eut.1_Missense_Mutation_p.V426L|TRIM28_uc002qth.1_Missense_Mutation_p.V123L NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 508 HP1 box. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CGTCTTCAAGGTCTTCCCAGG 0.612 NA 31 35 0 0 0.008361 0 0 KCNS3 3790 broad.mit.edu 37 2 18113214 18113214 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:18113214A>G uc002rcv.2 + 3 1390 c.939A>G c.(937-939)CTA>CTG p.L313L KCNS3_uc002rcw.2_Silent_p.L313L NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 313 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTCGGTCTCTAGGTGCCACAC 0.498 NA 17 242 0 0 0.004007 0 0 ATAD2B 54454 broad.mit.edu 37 2 23980357 23980357 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:23980357A>T uc002rek.3 - 25 4303 c.4009T>A c.(4009-4011)TGT>AGT p.C1337S ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.C577S|ATAD2B_uc002rej.3_Missense_Mutation_p.C505S NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1337 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTATTGCTACATTCCAGTGCC 0.378 NA 48 140 0 0 0.01441 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44023920 44023921 + Missense_Mutation DNP GG GG CT TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:44023920_44023921GG>CT uc002rtk.2 + 8 736_737 c.640_641GG>CT c.(640-642)GGA>CTA p.G214L DYNC2LI1_uc002rtj.2_Missense_Mutation_p.G214L|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.G215L|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.G88L NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 214 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACATTATTATGGAGCATCATTA 0.356 NA 16 44 0 0 0.004672 0 0 C2orf34 79823 broad.mit.edu 37 2 44970769 44970769 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:44970769G>A uc002rum.2 + 8 736 c.632G>A c.(631-633)CGA>CAA p.R211Q NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN hypothetical protein LOC79823 211 cytoplasm calmodulin-lysine N-methyltransferase activity 0 all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17) AGCGTTTTACGATGGGATAAT 0.308 NA 4 48 0 0 0.009096 0 0 PSME4 23198 broad.mit.edu 37 2 54120044 54120044 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:54120044T>A uc002rxp.2 - 36 4148 c.4092A>T c.(4090-4092)TTA>TTT p.L1364F PSME4_uc010yop.1_Missense_Mutation_p.L1250F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L739F|PSME4_uc010fbv.1_Missense_Mutation_p.L508F NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1364 HEAT 4. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CCAAATGTTCTAAATGGGGCT 0.393 NA 28 65 0 0 0.012213 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561797 55561797 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:55561797C>A uc002ryv.2 - 15 3002 c.2160G>T c.(2158-2160)ATG>ATT p.M720I CCDC88A_uc010yoz.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypa.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypb.1_Missense_Mutation_p.M622I|CCDC88A_uc002ryu.2_Missense_Mutation_p.M3I|CCDC88A_uc002ryw.2_Missense_Mutation_p.M3I NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 720 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GTAGCTGAGCCATTTTCATGC 0.388 NA 22 61 2.39556e-15 3.34751e-15 0.00278 1 0 ADD2 119 broad.mit.edu 37 2 70906031 70906031 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:70906031A>T uc002sgz.2 - 11 1653 c.1188T>A c.(1186-1188)AGT>AGA p.S396R ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.S396R|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.S396R|ADD2_uc010fdt.1_Missense_Mutation_p.S396R|ADD2_uc002shc.1_Missense_Mutation_p.S396R|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.S412R NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 396 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 TCTCCACCTCACTTTTGTGTT 0.527 NA 28 111 0 0 0.008361 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043658 71043658 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:71043658G>C uc002shf.2 - 4 932 c.855C>G c.(853-855)ATC>ATG p.I285M CLEC4F_uc010yqv.1_Missense_Mutation_p.I285M NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 285 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TTAGTCCCTGGATCTCAGCAT 0.418 Colon(107;10 2157 6841 26035) NA 69 138 0 0 0.01441 0 0 EPB41L5 57669 broad.mit.edu 37 2 120849214 120849214 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:120849214C>G uc002tmg.2 + 13 1253 c.1127C>G c.(1126-1128)TCT>TGT p.S376C EPB41L5_uc010flk.2_Missense_Mutation_p.S376C|EPB41L5_uc010fll.2_Missense_Mutation_p.S376C|EPB41L5_uc002tmh.3_Missense_Mutation_p.S376C|EPB41L5_uc010flm.2_Missense_Mutation_p.S180C NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 376 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 AAACGATATTCTAGACGAACT 0.378 NA 23 33 0 0 0.004656 0 0 YSK4 80122 broad.mit.edu 37 2 135745193 135745193 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:135745193A>T uc002tue.1 - 7 1280 c.1249T>A c.(1249-1251)TCA>ACA p.S417T YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S304T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S145T|YSK4_uc002tui.3_Missense_Mutation_p.S434T NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 417 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) ACTCTTTTTGAAGCAGCTTTA 0.343 NA 28 120 0 0 0.00632 0 0 LRP1B 53353 broad.mit.edu 37 2 141986802 141986802 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:141986802G>T uc002tvj.1 - 6 1772 c.800C>A c.(799-801)GCA>GAA p.A267E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 267 Extracellular (Potential).|LDL-receptor class B 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAATCCTCCTGCTTTTGTTAT 0.294 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 12 67 2.80697e-09 3.46808e-09 0.010729 1 0 PDE11A 50940 broad.mit.edu 37 2 178879143 178879143 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:178879143C>A uc002ulq.2 - 2 1275 c.957G>T c.(955-957)AAG>AAT p.K319N PDE11A_uc002ulr.2_Missense_Mutation_p.K69N|PDE11A_uc002ult.1_Missense_Mutation_p.K69N NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 319 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ATGATTTTGTCTTGTATCCAG 0.403 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 8 53 4.68919e-08 5.70548e-08 0.008291 1 0 TTN 7273 broad.mit.edu 37 2 179395969 179395969 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:179395969T>C uc010zfg.1 - 307 97893 c.97669A>G c.(97669-97671)ACG>GCG p.T32557A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26252A|TTN_uc010zfi.1_Missense_Mutation_p.T26185A|TTN_uc010zfj.1_Missense_Mutation_p.T26060A|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33484 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) GCCAAAGTCGTCTTGATCTTT 0.463 NA 103 170 0 0 0.01441 0 0 TTN 7273 broad.mit.edu 37 2 179575399 179575399 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:179575399C>A uc010zfg.1 - 95 24917 c.24693G>T c.(24691-24693)GTG>GTT p.V8231V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4892V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9158 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) AGTCTTTTCCCACTTCATTCA 0.403 NA 5 151 3.59834e-05 4.02611e-05 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179614294 179614294 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:179614294T>G uc002unb.2 - 46 13057 c.12833A>C c.(12832-12834)CAG>CCG p.Q4278P TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) AGATTCTCCCTGGTCTTGCAG 0.373 NA 6 69 0 0 0.001984 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798422 185798422 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:185798422C>A uc002uph.2 + 3 942 c.348C>A c.(346-348)CGC>CGA p.R116R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 116 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CACTCCAACGCCTGCACAAGC 0.403 NA 7 34 0.00198382 0.00213745 0.001984 1 0 COL3A1 1281 broad.mit.edu 37 2 189873816 189873816 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:189873816C>A uc002uqj.1 + 48 3809 c.3692C>A c.(3691-3693)ACC>AAC p.T1231N NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1231 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAATCAACACCGATGAGATT 0.458 NA 36 147 4.00102e-26 6.12596e-26 0.00623 1 0 FAM134A 79137 broad.mit.edu 37 2 220045854 220045854 + Missense_Mutation SNP G G T rs149941380 byFrequency TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:220045854G>T uc002vjw.3 + 6 847 c.711G>T c.(709-711)GAG>GAT p.E237D FAM134A_uc010fwc.2_Missense_Mutation_p.E30D|FAM134A_uc002vjx.2_Missense_Mutation_p.E30D NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 237 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCGCCTGGAGCCCCTGCTCA 0.542 NA 23 126 7.87624e-14 1.07709e-13 0.00278 1 0 OBSL1 23363 broad.mit.edu 37 2 220434961 220434961 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:220434961C>A uc010fwk.2 - 1 1051 c.994G>T c.(994-996)GTG>TTG p.V332L OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V332L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 332 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGCAGCTGCACGGCACTGAGC 0.692 NA 11 15 3.07112e-06 3.52243e-06 0.010729 1 0 ALPI 248 broad.mit.edu 37 2 233322813 233322813 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:233322813A>G uc002vst.3 + 8 1039 c.962A>G c.(961-963)AAC>AGC p.N321S ALPI_uc002vsu.3_Missense_Mutation_p.N232S NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 321 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CTGAGCAGGAACCCCCGCGGC 0.647 NA 10 43 0 0 0.006122 0 0 INPP5D 3635 broad.mit.edu 37 2 234106843 234106843 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:234106843C>T uc010zmo.1 + 24 2949 c.2796C>T c.(2794-2796)ACC>ACT p.T932T INPP5D_uc010zmp.1_Silent_p.T931T NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 932 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGCAGACCTTGTCCCCTG 0.647 NSCLC(82;1215 1426 16163 20348 41018) NA 5 40 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238234302 238234302 + Missense_Mutation SNP G G A rs147533489 byFrequency TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:238234302G>A uc002vwl.2 - 43 9679 c.9394C>T c.(9394-9396)CCA>TCA p.P3132S COL6A3_uc002vwo.2_Missense_Mutation_p.P2926S|COL6A3_uc010znj.1_Missense_Mutation_p.P2525S|COL6A3_uc002vwj.2_Missense_Mutation_p.P513S NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 3132 Nonhelical region.|BPTI/Kunitz inhibitor. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTGGTGTTTGGATCATAGTAC 0.373 NA 26 184 0 0 0.00632 0 0 ENTPD6 955 broad.mit.edu 37 20 25199194 25199194 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:25199194G>T uc002wuj.2 + 10 1067 c.887G>T c.(886-888)GGG>GTG p.G296V ENTPD6_uc010zsy.1_Missense_Mutation_p.G296V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G268V|ENTPD6_uc010zsz.1_Missense_Mutation_p.G78V|ENTPD6_uc002wum.2_Missense_Mutation_p.G279V|ENTPD6_uc010zta.1_Missense_Mutation_p.G296V|ENTPD6_uc002wun.2_Missense_Mutation_p.G296V|ENTPD6_uc002wuk.2_Missense_Mutation_p.G295V|ENTPD6_uc002wul.2_Missense_Mutation_p.G295V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G268V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G268V|ENTPD6_uc002wuo.2_Missense_Mutation_p.G48V|ENTPD6_uc010ztd.1_Missense_Mutation_p.G78V NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 296 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 AGCTACCTCGGGCTCGGGCTG 0.667 NA 5 6 3.59834e-05 4.02611e-05 0.001168 1 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:29628243T>C uc010ztl.1 + 3 187 c.155T>C c.(154-156)TTG>TCG p.L52S FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGGCTTTGTTGGCCTCAAAT 0.353 NA 4 113 0 0 0.00308 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:29628263A>G uc010ztl.1 + 3 207 c.175A>G c.(175-177)ATT>GTT p.I59V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TAGCTGCTTTATTAGATGCAA 0.363 NA 6 102 0 0 0.004482 0 0 XKR7 343702 broad.mit.edu 37 20 30584719 30584719 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:30584719G>A uc002wxe.2 + 3 1373 c.1199G>A c.(1198-1200)GGC>GAC p.G400D NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 400 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCGCTCACCGGCTTCTGGTAC 0.582 NA 13 68 0 0 0.013537 0 0 STAU1 6780 broad.mit.edu 37 20 47770537 47770537 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:47770537C>A uc002xud.2 - 4 688 c.277G>T c.(277-279)GTT>TTT p.V93F STAU1_uc002xua.2_Missense_Mutation_p.V12F|STAU1_uc002xub.2_Missense_Mutation_p.V12F|STAU1_uc002xuc.2_Missense_Mutation_p.V12F|STAU1_uc002xue.2_Missense_Mutation_p.V12F|STAU1_uc002xuf.2_Missense_Mutation_p.V12F|STAU1_uc002xug.2_Missense_Mutation_p.V93F NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 93 DRBM 1. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TAAGGGTCAACAGGCTTATAC 0.378 NA 83 61 2.84431e-33 4.52825e-33 0.01441 1 0 LAMA5 3911 broad.mit.edu 37 20 60927018 60927018 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr20:60927018G>T uc002ycq.2 - 5 872 c.805C>A c.(805-807)CTG>ATG p.L269M NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 269 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCCCAGCAGCGTGTTGGTA 0.687 NA 19 7 5.45024e-15 7.55012e-15 0.00333 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28337760 28337760 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr21:28337760C>A uc002ymg.2 - 1 1680 c.951G>T c.(949-951)AAG>AAT p.K317N NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 317 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GCACCACCACCTTCACCACGG 0.587 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 9 138 3.09899e-07 3.65932e-07 0.004482 1 0 TIAM1 7074 broad.mit.edu 37 21 32638630 32638630 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr21:32638630G>T uc002yow.1 - 5 1131 c.659C>A c.(658-660)CCG>CAG p.P220Q TIAM1_uc011adk.1_Missense_Mutation_p.P220Q|TIAM1_uc011adl.1_Missense_Mutation_p.P220Q|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 220 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GAGCTGCCGCGGACTCGCCCG 0.552 NA 44 49 1.17253e-29 1.83029e-29 0.01441 1 0 C2CD2 25966 broad.mit.edu 37 21 43319393 43319393 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr21:43319393C>A uc002yzw.2 - 13 1881 c.1639G>T c.(1639-1641)GCC>TCC p.A547S C2CD2_uc002yzs.2_Missense_Mutation_p.A16S|C2CD2_uc002yzt.2_Missense_Mutation_p.A163S|C2CD2_uc002yzu.2_Missense_Mutation_p.A379S|C2CD2_uc002yzv.2_Missense_Mutation_p.A392S NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 547 cytosol|extracellular region|nucleus ovary(1) 1 TGGGATGGGGCGTCCTCCTGG 0.667 NA 12 20 1.67942e-08 2.05905e-08 0.006122 1 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067170 46067170 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr21:46067170C>A uc002zfr.3 + 1 840 c.795C>A c.(793-795)TCC>TCA p.S265S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 265 25 X 5 AA repeats of C-C-X(3). keratin filament ovary(1) 1 CCTGCCAGTCCAGCTGCTGCC 0.692 NA 26 14 3.21987e-24 4.86018e-24 0.01441 1 0 MCM3AP 8888 broad.mit.edu 37 21 47655246 47655246 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr21:47655246G>A uc002zir.1 - 28 5915 c.5879C>T c.(5878-5880)TCA>TTA p.S1960L MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S455L|MCM3AP_uc002zip.1_Missense_Mutation_p.S701L|MCM3AP_uc002ziq.1_Missense_Mutation_p.S887L|MCM3APAS_uc002zis.1_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1960 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CTCTTCCCTTGAACTCCGGAT 0.552 NA 31 18 0 0 0.008361 0 0 PRAME 23532 broad.mit.edu 37 22 22893228 22893228 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr22:22893228T>A uc002zwf.2 - 3 461 c.305A>T c.(304-306)GAT>GTT p.D102V LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.D86V|PRAME_uc010gtr.2_Missense_Mutation_p.D102V|PRAME_uc002zwg.2_Missense_Mutation_p.D102V|PRAME_uc002zwh.2_Missense_Mutation_p.D102V|PRAME_uc002zwi.2_Missense_Mutation_p.D102V|PRAME_uc002zwj.2_Missense_Mutation_p.D102V|PRAME_uc002zwk.2_Missense_Mutation_p.D102V NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 102 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) ATCAAGTCCATCAAGCACAGC 0.597 Melanoma(73;1707 1838 15168 27201) NA 26 117 0 0 0.003954 0 0 FBLN2 2199 broad.mit.edu 37 3 13659609 13659609 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:13659609T>A uc011avb.1 + 6 1888 c.1763T>A c.(1762-1764)CTG>CAG p.L588Q FBLN2_uc011auz.1_Missense_Mutation_p.L614Q|FBLN2_uc011ava.1_Missense_Mutation_p.L588Q|FBLN2_uc011avc.1_Missense_Mutation_p.L588Q NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 588 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CGAGAGGCCCTGTCACTGGGC 0.617 NA 39 62 0 0 0.01441 0 0 EPHA6 285220 broad.mit.edu 37 3 97356765 97356765 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:97356765G>A uc010how.1 + 14 2666 c.2623G>A c.(2623-2625)GGC>AGC p.G875S EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.G267S|EPHA6_uc003drr.3_Missense_Mutation_p.G267S|EPHA6_uc003drt.2_Missense_Mutation_p.G267S|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 780 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AATGCTCCGAGGCATTGCATC 0.423 NA 22 73 0 0 0.003954 0 0 TAGLN3 29114 broad.mit.edu 37 3 111718394 111718394 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:111718394T>C uc003dym.2 + 2 503 c.125T>C c.(124-126)ATA>ACA p.I42T TAGLN3_uc003dyl.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyn.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyo.2_Missense_Mutation_p.I42T NM_001008272 NP_001008273 Q9UI15 TAGL3_HUMAN transgelin 3 42 CH. central nervous system development|muscle organ development 0 GCCGAGGACATAGAGCACCCG 0.607 NA 16 54 0 0 0.012319 0 0 TIGIT 201633 broad.mit.edu 37 3 114014579 114014579 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:114014579T>A uc003ebg.1 + 2 283 c.249T>A c.(247-249)GAT>GAA p.D83E NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 83 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 CCTTCAAGGATCGAGTGGCCC 0.592 NA 17 55 0 0 0.004007 0 0 ATP2C1 27032 broad.mit.edu 37 3 130682828 130682828 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:130682828G>A uc003enl.2 + 13 1135 c.913G>A c.(913-915)GCA>ACA p.A305T ATP2C1_uc011blg.1_Missense_Mutation_p.A339T|ATP2C1_uc011blh.1_Missense_Mutation_p.A300T|ATP2C1_uc011bli.1_Missense_Mutation_p.A339T|ATP2C1_uc003enk.2_Missense_Mutation_p.A289T|ATP2C1_uc003enm.2_Missense_Mutation_p.A305T|ATP2C1_uc003enn.2_Missense_Mutation_p.A289T|ATP2C1_uc003eno.2_Missense_Mutation_p.A305T|ATP2C1_uc003enp.2_Missense_Mutation_p.A305T|ATP2C1_uc003enq.2_Missense_Mutation_p.A305T|ATP2C1_uc003enr.2_Missense_Mutation_p.A305T|ATP2C1_uc003ens.2_Missense_Mutation_p.A305T|ATP2C1_uc003ent.2_Missense_Mutation_p.A305T|ATP2C1_uc003enu.2_5'UTR NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 305 Helical; Name=4; (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GGCTGTAGCAGCAATTCCTGA 0.378 Esophageal Squamous(99;456 1443 27647 34099 42636) NA Hailey-Hailey_disease 16 64 0 0 0.00499 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721504 135721504 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:135721504A>G uc003eqv.1 + 2 1729 c.1164A>G c.(1162-1164)CTA>CTG p.L388L PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 388 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CTAGAACTCTAAAAGCTGTCC 0.358 NA 19 31 0 0 0.014323 0 0 DBR1 51163 broad.mit.edu 37 3 137881363 137881363 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr3:137881363G>A uc003erv.2 - 8 1139 c.1003C>T c.(1003-1005)CTC>TTC p.L335F DBR1_uc003eru.2_Missense_Mutation_p.L284F|DBR1_uc003ert.2_Missense_Mutation_p.L103F NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 335 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 GGAACCTTGAGATCATGATTC 0.353 NA 21 93 0 0 0.010504 0 0 AFAP1 60312 broad.mit.edu 37 4 7857263 7857263 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:7857263G>A uc003gkg.1 - 4 537 c.264C>T c.(262-264)TCC>TCT p.S88S AFAP1_uc011bwk.1_Silent_p.S88S NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 88 Pro-rich. actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 CTTCTGGGAGGGAGGATGTTG 0.517 NA 8 56 0 0 0.010729 0 0 GABRB1 2560 broad.mit.edu 37 4 47408881 47408881 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:47408881G>C uc003gxh.2 + 8 1392 c.1018G>C c.(1018-1020)GGA>CGA p.G340R GABRB1_uc011bze.1_Missense_Mutation_p.G270R NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 340 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCAGAAAAAGGGAGCTAGCAA 0.373 NA 18 75 0 0 0.008871 0 0 ATP10D 57205 broad.mit.edu 37 4 47565645 47565645 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:47565645A>T uc003gxk.1 + 15 2880 c.2716A>T c.(2716-2718)ATA>TTA p.I906L ATP10D_uc003gxl.1_Missense_Mutation_p.I154L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 906 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CCCTGAATCTATAGAAGCTCT 0.473 NA 15 83 0 0 0.00245 0 0 AASDH 132949 broad.mit.edu 37 4 57217624 57217624 + Splice_Site SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:57217624C>T uc003hbn.2 - 10 1730 c.1577_splice c.e10-1 p.G526_splice AASDH_uc010ihb.2_Splice_Site_p.G41_splice|AASDH_uc011caa.1_Splice_Site_p.G373_splice|AASDH_uc003hbo.2_Splice_Site_p.G426_splice|AASDH_uc011cab.1_Splice_Site_p.G41_splice|AASDH_uc010ihc.2_Splice_Site_p.G526_splice|AASDH_uc003hbp.2_Splice_Site_p.G526_splice NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCAATTTTGCCTTAATATAAA 0.264 NA 15 26 0 0 0.003163 0 0 PDHA2 5161 broad.mit.edu 37 4 96762282 96762282 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:96762282C>A uc003htr.3 + 1 1044 c.981C>A c.(979-981)CTC>CTA p.L327L NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 327 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACAGCAAGCTCGCCACTGTGG 0.428 NA 35 56 4.0306e-16 5.6819e-16 0.01441 1 0 ANK2 287 broad.mit.edu 37 4 114254323 114254323 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:114254323C>A uc003ibe.3 + 29 3438 c.3338C>A c.(3337-3339)ACT>AAT p.T1113N ANK2_uc003ibd.3_Missense_Mutation_p.T1104N|ANK2_uc003ibf.3_Missense_Mutation_p.T1113N|ANK2_uc011cgc.1_Missense_Mutation_p.T289N|ANK2_uc003ibg.3_Missense_Mutation_p.T108N|ANK2_uc003ibc.2_Missense_Mutation_p.T1089N|ANK2_uc011cgb.1_Missense_Mutation_p.T1128N NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1080 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGTGACTACACTGAAGATGAA 0.433 NA 51 50 1.15193e-12 1.54233e-12 0.01441 1 0 MMAA 166785 broad.mit.edu 37 4 146560391 146560391 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:146560391C>G uc003ikh.3 + 2 185 c.100C>G c.(100-102)CTC>GTC p.L34V MMAA_uc003ikg.2_Missense_Mutation_p.L34V|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 34 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGTACTCATCTCGGATCAGG 0.438 NA 5 194 0 0 0.000602 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160275067 160275067 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr4:160275067G>T uc003iqg.3 + 22 4347 c.4037G>T c.(4036-4038)CGG>CTG p.R1346L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1346 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ACAATAAAGCGGAGGGGTGGA 0.537 NA 34 30 2.47316e-13 3.32525e-13 0.003271 1 0 MARCH6 10299 broad.mit.edu 37 5 10411648 10411648 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:10411648G>A uc003jet.1 + 19 2078 c.1895G>A c.(1894-1896)AGG>AAG p.R632K MARCH6_uc011cmu.1_Missense_Mutation_p.R584K|MARCH6_uc003jeu.1_Missense_Mutation_p.R330K|MARCH6_uc011cmv.1_Missense_Mutation_p.R527K NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 632 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TTTCCACTCAGGGTAGGTGCT 0.463 NA 10 38 0 0 0.001855 0 0 CTNND2 1501 broad.mit.edu 37 5 11159798 11159798 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:11159798G>T uc003jfa.1 - 12 2194 c.2049C>A c.(2047-2049)ACC>ACA p.T683T CTNND2_uc010itt.2_Silent_p.T592T|CTNND2_uc011cmy.1_Silent_p.T346T|CTNND2_uc011cmz.1_Silent_p.T250T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T250T NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 683 ARM 5. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TCACCGCGTTGGTCAGTACTG 0.507 NA 23 114 7.87624e-14 1.07709e-13 0.00278 1 0 SKP2 6502 broad.mit.edu 37 5 36183971 36183971 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:36183971G>T uc003jkd.2 + 10 1267 c.1091G>T c.(1090-1092)CGG>CTG p.R364L NM_032637 NP_116026 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 2 Error:Variant_position_missing_in_Q13309_after_alignment anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTAGGATCCGGTTGGACTCT 0.368 NA 18 97 4.96729e-08 6.02096e-08 0.008871 1 0 PPWD1 23398 broad.mit.edu 37 5 64875260 64875260 + Silent SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:64875260G>A uc003jtv.3 + 7 1177 c.1170G>A c.(1168-1170)CGG>CGA p.R390R PPWD1_uc011cqv.1_Silent_p.R360R|PPWD1_uc011cqw.1_Silent_p.R234R NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat 390 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) GGTGTGTGCGGATTTTAGGCA 0.348 NA 5 41 0 0 0.001984 0 0 PCDHA10 56139 broad.mit.edu 37 5 140235739 140235739 + Missense_Mutation SNP G G A rs147800828 TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:140235739G>A uc003lhx.2 + 1 106 c.106G>A c.(106-108)GAG>AAG p.E36K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.E36K|PCDHA10_uc011dad.1_Missense_Mutation_p.E36K NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 36 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGTCTACGAGGAGGCCAG 0.662 NA 25 74 0 0 0.009535 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554630 140554630 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:140554630C>G uc003lit.2 + 1 2388 c.2214C>G c.(2212-2214)AGC>AGG p.S738R PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 738 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGACTTGAGCGGCACCGGGA 0.617 NA 31 145 0 0 0.010818 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562314 140562314 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:140562314C>A uc003liv.2 + 1 1335 c.180C>A c.(178-180)TCC>TCA p.S60S PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 60 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAGATGTCCACCCGCAAGG 0.517 NA 9 126 2.17888e-05 2.46375e-05 0.006214 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573632 140573632 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:140573632C>A uc003lix.2 + 1 1681 c.1507C>A c.(1507-1509)CTG>ATG p.L503M NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 503 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCGCCTCCCTGGTCTCCAT 0.682 NA 8 163 3.09899e-07 3.65932e-07 0.004482 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720308 140720308 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:140720308G>T uc003ljk.1 + 1 1955 c.1770G>T c.(1768-1770)AAG>AAT p.K590N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.K590N NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 590 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGACCAAGGTGGTGGCGG 0.672 NA 45 95 7.77092e-38 1.27523e-37 0.01441 1 0 ARHGEF37 389337 broad.mit.edu 37 5 149008426 149008426 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:149008426G>A uc003lra.1 + 12 1779 c.1715G>A c.(1714-1716)AGT>AAT p.S572N NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 572 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 GTGGTCCCCAGTGCAGAGGAG 0.602 NA 7 23 0 0 0.001984 0 0 GABRA6 2559 broad.mit.edu 37 5 161128675 161128675 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:161128675T>G uc003lyu.2 + 9 1596 c.1258T>G c.(1258-1260)TAT>GAT p.Y420D GABRA6_uc003lyv.2_Missense_Mutation_p.Y191D NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 420 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AATAGACCAGTATTCTCGAAT 0.468 NA TCGA Ovarian(5;0.080) 40 44 0 0 0.00874 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765673 171765673 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:171765673C>T uc003mbr.2 - 13 2607 c.2436G>A c.(2434-2436)TTG>TTA p.L812L NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 812 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTGGCCCCCCAAAGAGTTGG 0.612 NA 4 27 0 0 0.009096 0 0 CNOT6 57472 broad.mit.edu 37 5 179996154 179996154 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr5:179996154G>T uc003mlx.2 + 10 1421 c.1072G>T c.(1072-1074)GCT>TCT p.A358S CNOT6_uc010jld.2_Missense_Mutation_p.A358S|CNOT6_uc010jle.2_Missense_Mutation_p.A353S NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 358 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TATTCTTGTGGCTAACGCCCA 0.413 NA 14 80 2.32078e-09 2.88969e-09 0.003163 1 0 CDYL 9425 broad.mit.edu 37 6 4892352 4892352 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:4892352G>T uc003mwi.2 + 4 723 c.592G>T c.(592-594)GTG>TTG p.V198L CDYL_uc003mwj.2_Missense_Mutation_p.V144L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.V12L|CDYL_uc011dhy.1_Missense_Mutation_p.V12L NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 198 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CAAGATCCTCGTGCCTAAAAG 0.567 NA 40 78 1.07121e-22 1.59436e-22 0.006999 1 0 HIVEP1 3096 broad.mit.edu 37 6 12125456 12125456 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:12125456G>T uc003nac.2 + 4 5607 c.5428G>T c.(5428-5430)GGT>TGT p.G1810C HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1810 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCCCCTGGACGGTGTGATGTT 0.393 NA 134 260 1.18489e-69 2.02762e-69 0.01441 1 0 TJAP1 93643 broad.mit.edu 37 6 43471199 43471199 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:43471199A>G uc003ovd.2 + 9 824 c.448A>G c.(448-450)AAG>GAG p.K150E TJAP1_uc003ovf.2_Missense_Mutation_p.K140E|TJAP1_uc003ove.2_Missense_Mutation_p.K140E|TJAP1_uc003ovc.2_Missense_Mutation_p.K140E|TJAP1_uc010jyp.2_Missense_Mutation_p.K109E|TJAP1_uc011dvh.1_Missense_Mutation_p.K140E|TJAP1_uc003ovg.2_Missense_Mutation_p.K16E|TJAP1_uc010jyq.2_3'UTR|TJAP1_uc011dvi.1_Missense_Mutation_p.K150E|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Missense_Mutation_p.K16E NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 150 Potential. Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCTGACCAACAAGCTGCTGGA 0.527 NA 4 83 0 0 0.000602 0 0 GPR115 221393 broad.mit.edu 37 6 47682229 47682229 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:47682229G>T uc003oza.1 + 6 1506 c.1248G>T c.(1246-1248)TTG>TTT p.L416F GPR115_uc003oyz.1_Missense_Mutation_p.L473F|GPR115_uc003ozb.1_Missense_Mutation_p.L414F NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 416 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 TCCTAAGCTTGGTTCTTTGCC 0.488 GBM(22;431 510 9010 26644 32828) NA 49 122 1.56989e-16 2.23274e-16 0.01441 1 0 EYS 346007 broad.mit.edu 37 6 66063453 66063453 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:66063453G>T uc011dxu.1 - 9 1895 c.1357C>A c.(1357-1359)CTA>ATA p.L453I EYS_uc003peq.2_Missense_Mutation_p.L453I|EYS_uc003per.1_Missense_Mutation_p.L453I NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 453 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 TGATGAATTAGGTAAACATTC 0.373 NA 14 57 1.05317e-09 1.31646e-09 0.00245 1 0 PRSS35 167681 broad.mit.edu 37 6 84233922 84233922 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:84233922C>A uc003pjz.2 + 2 925 c.762C>A c.(760-762)GTC>GTA p.V254V PRSS35_uc010kbm.2_Silent_p.V254V NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 254 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGACCCGGGTCAAGAATACCC 0.562 NA 38 46 4.62619e-21 6.75973e-21 0.004289 1 0 HS3ST5 222537 broad.mit.edu 37 6 114379241 114379241 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:114379241C>A uc003pwg.3 - 2 253 c.221G>T c.(220-222)GGC>GTC p.G74V uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.G74V NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 74 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GGAAGCGTTGCCCTTCCGGAA 0.607 NA 14 57 9.31168e-06 1.0604e-05 0.001855 1 0 HEY2 23493 broad.mit.edu 37 6 126080924 126080924 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:126080924G>T uc003qad.2 + 5 1181 c.990G>T c.(988-990)TGG>TGT p.W330C HEY2_uc011ebr.1_Missense_Mutation_p.W284C NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 330 YRPW motif. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) ACCGACCCTGGGGGACAGAAG 0.493 NA 47 82 1.63429e-32 2.57622e-32 0.01441 1 0 VTA1 51534 broad.mit.edu 37 6 142468431 142468431 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:142468431G>T uc003qiw.2 + 1 22 c.7G>T c.(7-9)GCG>TCG p.A3S VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_5'UTR NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 3 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) AGAGATGGCCGCGCTTGCACC 0.617 NA OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 34 1.12685e-05 1.2787e-05 0.004482 1 0 GRM1 2911 broad.mit.edu 37 6 146673535 146673535 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:146673535G>T uc010khw.1 + 5 1806 c.1336G>T c.(1336-1338)GAC>TAC p.D446Y GRM1_uc010khv.1_Missense_Mutation_p.D446Y|GRM1_uc003qll.2_Missense_Mutation_p.D446Y|GRM1_uc011edz.1_Missense_Mutation_p.D446Y|GRM1_uc011eea.1_Missense_Mutation_p.D446Y NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 446 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GAAGCCCATCGACGGCAGCAA 0.552 NA 66 128 2.72615e-36 4.42827e-36 0.01441 1 0 C6orf97 80129 broad.mit.edu 37 6 151869438 151869438 + Splice_Site SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr6:151869438G>T uc003qol.2 + 5 678 c.589_splice c.e5-1 p.L197_splice NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TTTCTCTTCAGCTTAGAGACC 0.338 NA 20 35 6.44725e-10 8.15463e-10 0.014323 1 0 PAPOLB 56903 broad.mit.edu 37 7 4900091 4900091 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:4900091C>A uc003snk.2 - 1 1535 c.1351G>T c.(1351-1353)GAA>TAA p.E451* RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 450 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CTGAGAATTTCAGAATTATCT 0.378 NA 80 112 1.91123e-38 3.18538e-38 0.01441 1 0 THSD7A 221981 broad.mit.edu 37 7 11501720 11501720 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:11501720G>T uc003ssf.3 - 10 2671 c.2419C>A c.(2419-2421)CCA>ACA p.P807T NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 807 TSP type-1 8.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCGTTGGCTGGCAGCTGAATG 0.507 NA HNSCC(18;0.044) 60 118 3.95532e-38 6.55804e-38 0.01441 1 0 TMEM195 392636 broad.mit.edu 37 7 15599801 15599801 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:15599801C>A uc003stb.1 - 2 392 c.222G>T c.(220-222)ACG>ACT p.T74T NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 74 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CTGAGATTGACGTTAAAGCAT 0.453 NA 22 65 7.76418e-22 1.15025e-21 0.005443 1 0 DNAH11 8701 broad.mit.edu 37 7 21745109 21745109 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:21745109G>T uc003svc.2 + 40 6552 c.6521G>T c.(6520-6522)CGG>CTG p.R2174L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2174 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTGGCTGTGCGGCACTCGGTC 0.423 NA Kartagener_syndrome 6 45 0.00621372 0.00662796 0.006214 1 0 INHBA 3624 broad.mit.edu 37 7 41739733 41739733 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:41739733C>T uc003thq.2 - 1 475 c.240G>A c.(238-240)AAG>AAA p.K80K LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.K80K|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 80 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 GAAGCGCCGCCTTGGGTACCG 0.527 NA TSP Lung(11;0.080) 8 626 0 0 0.001855 0 0 ELN 2006 broad.mit.edu 37 7 73480297 73480297 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:73480297C>T uc003tzw.2 + 31 2165 c.2074C>T c.(2074-2076)CTA>TTA p.L692L RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.L686L|ELN_uc003tzz.2_Silent_p.L605L|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.L667L|ELN_uc003tzt.2_Intron|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.L676L|ELN_uc011kff.1_Intron|ELN_uc003tzy.2_Silent_p.L662L NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 748 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGAGGTGTCCTAGGGGGTGC 0.622 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 4 144 0 0 0.000602 0 0 MLL5 55904 broad.mit.edu 37 7 104745898 104745898 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:104745898G>C uc003vcm.2 + 18 2743 c.2209G>C c.(2209-2211)GAA>CAA p.E737Q MLL5_uc010ljc.2_Missense_Mutation_p.E737Q|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 737 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CTTGGTTAATGAATGGTTAAG 0.348 NA 3 101 0 0 0.009096 0 0 MET 4233 broad.mit.edu 37 7 116339807 116339807 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:116339807A>G uc003vij.2 + 2 856 c.669A>G c.(667-669)AAA>AAG p.K223K MET_uc010lkh.2_Silent_p.K223K|MET_uc011knc.1_Silent_p.K223K|MET_uc011knd.1_Silent_p.K223K|MET_uc011kne.1_Silent_p.K223K|MET_uc011knf.1_Silent_p.K223K|MET_uc011kng.1_Silent_p.K223K|MET_uc011knh.1_Silent_p.K223K|MET_uc011kni.1_Silent_p.K223K|MET_uc003vii.1_Silent_p.K242K|MET_uc010lkg.2_Silent_p.K223K|MET_uc011kmz.1_Silent_p.K223K|MET_uc011kna.1_Silent_p.K223K|MET_uc011knb.1_Silent_p.K223K NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 223 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGGAAACGAAAGATGGTTTTA 0.383 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 8 279 0 0 0.00308 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121682660 121682660 + Splice_Site SNP A A C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:121682660A>C uc003vjy.2 + 22 6197 c.5802_splice c.e22-2 p.S1934_splice PTPRZ1_uc003vjz.2_Splice_Site_p.S1067_splice|PTPRZ1_uc011knt.1_Splice_Site_p.S524_splice NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TCTTCTCTTCAGTGCTGGAGT 0.333 NA 6 36 0 0 0.001168 0 0 RNF133 168433 broad.mit.edu 37 7 122338100 122338100 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:122338100C>A uc003vkj.1 - 1 1109 c.873G>T c.(871-873)GGG>GGT p.G291G CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 291 RING-type; atypical. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TGGGGCATGTCCCATGGGGTA 0.373 Colon(198;1778 2057 7449 19869 45985) NA 46 39 2.55665e-31 4.01043e-31 0.01441 1 0 TAS2R16 50833 broad.mit.edu 37 7 122635134 122635134 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:122635134C>T uc003vkl.1 - 1 621 c.555G>A c.(553-555)TTG>TTA p.L185L NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 185 Helical; Name=5; (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 AAGGAATAACCAATGCAACTG 0.433 NA 9 119 0 0 0.004482 0 0 RNF32 140545 broad.mit.edu 37 7 156468537 156468537 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr7:156468537T>A uc003wmo.2 + 8 1014 c.832T>A c.(832-834)TGG>AGG p.W278R RNF32_uc010lqm.2_Missense_Mutation_p.W278R|RNF32_uc003wmq.2_Missense_Mutation_p.W278R|RNF32_uc003wmr.2_Missense_Mutation_p.W278R|RNF32_uc003wmu.2_RNA NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 278 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) AGAAGAGGAATGGGAGAAAAT 0.522 NA 53 57 0 0 0.01441 0 0 KIF13B 23303 broad.mit.edu 37 8 29023195 29023195 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:29023195G>A uc003xhh.3 - 12 1312 c.1253C>T c.(1252-1254)ACG>ATG p.T418M KIF13B_uc003xhj.2_Missense_Mutation_p.T315M|KIF13B_uc010lvf.1_Missense_Mutation_p.T354M NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 418 Potential. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AATCTCCTCCGTTTTCCTTAA 0.458 NA 8 71 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 8 73150328 73150328 + Missense_Mutation SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:73150328A>G uc010lzg.2 - 7 916 c.380T>C c.(379-381)ATG>ACG p.M127T Homo sapiens cDNA, FLJ99767. NA GTCCAGGCACATTTTCATCAT 0.418 NA 24 51 0 0 0.00632 0 0 KCNB2 9312 broad.mit.edu 37 8 73480420 73480420 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:73480420G>C uc003xzb.2 + 2 1039 c.451G>C c.(451-453)GAA>CAA p.E151Q NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 151 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) AATGAACGAAGAACTGAGGCG 0.458 NA 67 149 0 0 0.01441 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617092 77617093 + Missense_Mutation DNP CC CC AG TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:77617092_77617093CC>AG uc003yav.2 + 2 1156_1157 c.769_770CC>AG c.(769-771)CCT>AGT p.P257S ZFHX4_uc003yat.1_Missense_Mutation_p.P257S|ZFHX4_uc003yau.1_Missense_Mutation_p.P257S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P257S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 257 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) CAAAGATGTCCCTAACAATGTG 0.421 NA HNSCC(33;0.089) 29 56 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 113651094 113651094 + Silent SNP G G A rs145905619 TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:113651094G>A uc003ynu.2 - 21 3516 c.3357C>T c.(3355-3357)GAC>GAT p.D1119D CSMD3_uc003yns.2_Silent_p.D391D|CSMD3_uc003ynt.2_Silent_p.D1079D|CSMD3_uc011lhx.1_Silent_p.D1015D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1119 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCAGTAAGTAGTCATGATGGT 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 41 0 0 0.004007 0 0 PSIP1 11168 broad.mit.edu 37 9 15472678 15472678 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:15472678T>G uc003zlv.3 - 10 1259 c.929A>C c.(928-930)GAA>GCA p.E310A PSIP1_uc003zlw.3_Missense_Mutation_p.E310A|PSIP1_uc003zlz.3_Missense_Mutation_p.E310A|PSIP1_uc003zma.3_Missense_Mutation_p.E301A|PSIP1_uc003zly.2_Missense_Mutation_p.E310A NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 310 Potential. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) ATCTGCTGCTTCTTTCTCATG 0.373 NA 20 62 0 0 0.014323 0 0 BNC2 54796 broad.mit.edu 37 9 16437347 16437347 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:16437347A>T uc003zml.2 - 6 985 c.845T>A c.(844-846)ATA>AAA p.I282K BNC2_uc011lmw.1_Missense_Mutation_p.I187K|BNC2_uc003zmm.2_Missense_Mutation_p.I240K|BNC2_uc003zmq.1_Missense_Mutation_p.I296K|BNC2_uc003zmr.1_Missense_Mutation_p.I319K|BNC2_uc003zmp.1_Missense_Mutation_p.I310K|BNC2_uc010mij.1_Missense_Mutation_p.I204K|BNC2_uc011lmv.1_Missense_Mutation_p.I108K|BNC2_uc003zmo.1_Missense_Mutation_p.I204K|BNC2_uc003zmj.2_Missense_Mutation_p.I47K|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.I47K|BNC2_uc003zmn.1_Missense_Mutation_p.I47K NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GAAAGTCCTTATATCTGAGTC 0.473 NA 17 163 0 0 0.00499 0 0 SLC24A2 25769 broad.mit.edu 37 9 19550264 19550264 + Silent SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:19550264G>T uc003zoa.1 - 7 1412 c.1350C>A c.(1348-1350)ACC>ACA p.T450T SLC24A2_uc003zob.1_Silent_p.T433T NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 450 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTCATCAGCGGTCTGTGGTA 0.453 NA 16 93 1.5739e-10 2.02268e-10 0.004007 1 0 TLN1 7094 broad.mit.edu 37 9 35710595 35710595 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:35710595G>A uc003zxt.2 - 33 4643 c.4289C>T c.(4288-4290)TCA>TTA p.S1430L NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1430 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AAGTGCCTTTGAGGCTGTGGA 0.517 NA 13 31 0 0 0.008871 0 0 KIF27 55582 broad.mit.edu 37 9 86503413 86503413 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:86503413C>G uc004ana.2 - 8 2218 c.2074G>C c.(2074-2076)GAG>CAG p.E692Q KIF27_uc010mpw.2_Missense_Mutation_p.E692Q|KIF27_uc010mpx.2_Missense_Mutation_p.E692Q NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 692 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 CCTTCATTCTCCAAATCTGAC 0.343 NA 18 30 0 0 0.006122 0 0 PTCH1 5727 broad.mit.edu 37 9 98209232 98209232 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:98209232C>A uc004avk.3 - 23 4494 c.4306G>T c.(4306-4308)GAA>TAA p.E1436* PTCH1_uc010mrn.2_Nonsense_Mutation_p.E228*|PTCH1_uc010mro.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.E1285*|PTCH1_uc004avl.3_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.E1370*|PTCH1_uc004avm.3_Nonsense_Mutation_p.E1435* NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1436 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TCCTCGCATTCCACGTCCTGC 0.602 NA Basal_Cell_Nevus_syndrome 52 84 1.57914e-17 2.26604e-17 0.01441 1 0 OR13C4 138804 broad.mit.edu 37 9 107288692 107288692 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:107288692G>T uc011lvn.1 - 1 799 c.799C>A c.(799-801)CTC>ATC p.L267I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCCCAAGGAGGTCCTGGGAC 0.428 NA 10 76 1.58986e-06 1.84332e-06 0.008291 1 0 SVEP1 79987 broad.mit.edu 37 9 113265485 113265485 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:113265485G>A uc010mtz.2 - 6 1653 c.1316C>T c.(1315-1317)CCT>CTT p.P439L SVEP1_uc010mua.1_Missense_Mutation_p.P439L|SVEP1_uc004beu.2_Missense_Mutation_p.P439L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 439 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GCGGAGATGAGGACATGTTCT 0.368 NA 9 73 0 0 0.004482 0 0 TTC16 158248 broad.mit.edu 37 9 130479235 130479235 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr9:130479235G>T uc004brq.1 + 2 198 c.131G>T c.(130-132)AGC>ATC p.S44I PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.S44I|TTC16_uc004brr.1_5'Flank NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 44 binding 0 GTGTTCCAAAGCATCTGTGAT 0.498 NA 9 59 7.48243e-07 8.70683e-07 0.006214 1 0 GPR143 4935 broad.mit.edu 37 X 9693874 9693874 + Missense_Mutation SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:9693874T>C uc004cst.1 - 9 1187 c.1187A>G c.(1186-1188)GAT>GGT p.D396G NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 376 Cytoplasmic (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) TGTGCTGGCATCAGAACCTGG 0.463 NA 6 47 0 0 0.001984 0 0 FRMPD4 9758 broad.mit.edu 37 X 12722577 12722577 + Silent SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:12722577T>C uc004cuz.1 + 11 1676 c.1170T>C c.(1168-1170)AAT>AAC p.N390N FRMPD4_uc011mij.1_Silent_p.N382N NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 390 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TCAAAGCAAATCAAAACTTGG 0.343 NA 3 103 0 0 0.009096 0 0 HUWE1 10075 broad.mit.edu 37 X 53607798 53607798 + Silent SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:53607798T>A uc004dsp.2 - 43 6111 c.5709A>T c.(5707-5709)TCA>TCT p.S1903S HUWE1_uc004dsn.2_Silent_p.S728S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1903 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TACCAGTTCCTGAGCCTCGAG 0.498 NA 13 51 0 0 0.001855 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69421829 69421829 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:69421829G>T uc004dxx.1 + 5 659 c.562G>T c.(562-564)GCT>TCT p.A188S NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 188 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 GGGTGGAGCTGCTGAAGCTCT 0.537 NA 9 62 7.48243e-07 8.70683e-07 0.006214 1 0 SLC7A3 84889 broad.mit.edu 37 X 70147433 70147433 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:70147433C>A uc004dyn.2 - 7 1242 c.1084G>T c.(1084-1086)GCG>TCG p.A362S SLC7A3_uc004dyo.2_Missense_Mutation_p.A362S NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 362 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCTGCCATCGCGTAGATCACC 0.587 NA 10 41 3.86212e-05 4.3062e-05 0.008291 1 0 ACRC 93953 broad.mit.edu 37 X 70823472 70823472 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:70823472C>A uc004eae.2 + 8 846 c.345C>A c.(343-345)GCC>GCA p.A115A BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 115 nucleus ovary(3) 3 Renal(35;0.156) TGAAGCCTGCCATCCAGGAAC 0.413 NA 46 258 3.54909e-21 5.20967e-21 0.011902 1 0 ACRC 93953 broad.mit.edu 37 X 70832808 70832808 + Silent SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:70832808G>C uc004eae.2 + 13 2553 c.2052G>C c.(2050-2052)GGG>GGC p.G684G BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 684 nucleus ovary(3) 3 Renal(35;0.156) AGAAAGATGGGACCCGTATTG 0.488 NA 20 120 0 0 0.012319 0 0 NHSL2 340527 broad.mit.edu 37 X 71359765 71359765 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:71359765C>T uc011mqa.1 + 6 2367 c.2367C>T c.(2365-2367)TCC>TCT p.S789S NHSL2_uc004eak.1_Silent_p.S423S|NHSL2_uc010nli.2_Silent_p.S558S NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 789 0 Renal(35;0.156) TGAGTATCTCCATCCGAAGCA 0.502 NA 6 67 0 0 0.001984 0 0 ATRX 546 broad.mit.edu 37 X 76845335 76845335 + Silent SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:76845335T>A uc004ecp.3 - 27 6418 c.6186A>T c.(6184-6186)ACA>ACT p.T2062T ATRX_uc004ecq.3_Silent_p.T2024T|ATRX_uc004eco.3_Silent_p.T1847T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2062 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTTTATCTTCTGTCTTCTCCC 0.294 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 17 25 0 0 0.007413 0 0 BRWD3 254065 broad.mit.edu 37 X 79932535 79932535 + Missense_Mutation SNP C C G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:79932535C>G uc004edt.2 - 41 5245 c.4982G>C c.(4981-4983)GGA>GCA p.G1661A BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1257A|BRWD3_uc004edp.2_Missense_Mutation_p.G1490A|BRWD3_uc004edq.2_Missense_Mutation_p.G1257A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1257A|BRWD3_uc004edr.2_Missense_Mutation_p.G1331A|BRWD3_uc004eds.2_Missense_Mutation_p.G1257A|BRWD3_uc004edu.2_Missense_Mutation_p.G1331A|BRWD3_uc004edv.2_Missense_Mutation_p.G1257A|BRWD3_uc004edw.2_Missense_Mutation_p.G1257A|BRWD3_uc004edx.2_Missense_Mutation_p.G1257A|BRWD3_uc004edy.2_Missense_Mutation_p.G1257A|BRWD3_uc004edz.2_Missense_Mutation_p.G1331A|BRWD3_uc004eea.2_Missense_Mutation_p.G1331A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1257A|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1661 Gly-rich. ovary(4) 4 ATTTCTTTTTCCATTGCCATG 0.353 NA 15 341 0 0 0.007413 0 0 BRWD3 254065 broad.mit.edu 37 X 79939515 79939515 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:79939515C>A uc004edt.2 - 37 4490 c.4227G>T c.(4225-4227)AAG>AAT p.K1409N BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.K1005N|BRWD3_uc004edp.2_Missense_Mutation_p.K1238N|BRWD3_uc004edq.2_Missense_Mutation_p.K1005N|BRWD3_uc010nmj.1_Missense_Mutation_p.K1005N|BRWD3_uc004edr.2_Missense_Mutation_p.K1079N|BRWD3_uc004eds.2_Missense_Mutation_p.K1005N|BRWD3_uc004edu.2_Missense_Mutation_p.K1079N|BRWD3_uc004edv.2_Missense_Mutation_p.K1005N|BRWD3_uc004edw.2_Missense_Mutation_p.K1005N|BRWD3_uc004edx.2_Missense_Mutation_p.K1005N|BRWD3_uc004edy.2_Missense_Mutation_p.K1005N|BRWD3_uc004edz.2_Missense_Mutation_p.K1079N|BRWD3_uc004eea.2_Missense_Mutation_p.K1079N|BRWD3_uc004eeb.2_Missense_Mutation_p.K1005N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1409 Bromo 2. ovary(4) 4 ATACCCTTGACTTTTTATTAG 0.338 NA 13 28 1.5842e-08 1.94978e-08 0.001855 1 0 CPXCR1 53336 broad.mit.edu 37 X 88008550 88008550 + Missense_Mutation SNP A A T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:88008550A>T uc004efd.3 + 3 394 c.135A>T c.(133-135)GAA>GAT p.E45D CPXCR1_uc004efc.3_Missense_Mutation_p.E45D NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 45 intracellular zinc ion binding ovary(3) 3 ATCAGGTAGAAACCAACCCAA 0.448 NA 7 19 0 0 0.001984 0 0 CENPI 2491 broad.mit.edu 37 X 100403112 100403113 + Missense_Mutation DNP CC CC AA TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:100403112_100403113CC>AA uc004egx.2 + 19 2326_2327 c.2056_2057CC>AA c.(2056-2058)CCT>AAT p.P686N CENPI_uc011mrg.1_Missense_Mutation_p.P686N NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 686 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 AGTCCATCATCCTTCTTTCTTG 0.351 NA 31 155 0 0 0.004672 0 0 BTK 695 broad.mit.edu 37 X 100613365 100613365 + Nonsense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:100613365G>T uc004ehg.2 - 12 1228 c.1035C>A c.(1033-1035)TAC>TAA p.Y345* BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc010nnn.2_Nonsense_Mutation_p.Y345*|BTK_uc010nno.2_Nonsense_Mutation_p.Y379*|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Nonsense_Mutation_p.Y345* NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 345 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TCTCAGCCAGGTAATACTGGC 0.498 NA Agammaglobulinemia_X-linked 68 305 9.65139e-37 1.57574e-36 0.01441 1 0 TCEAL3 85012 broad.mit.edu 37 X 102864328 102864328 + Silent SNP A A G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:102864328A>G uc004ekq.2 + 3 598 c.336A>G c.(334-336)AGA>AGG p.R112R TCEAL3_uc004ekr.2_Silent_p.R112R NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AAGCAAAAAGAAAAACGGACA 0.582 NA 41 194 0 0 0.00874 0 0 RAB9B 51209 broad.mit.edu 37 X 103080712 103080712 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:103080712C>A uc004ell.1 - 3 288 c.3G>T c.(1-3)ATG>ATT p.M1I RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 1 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 ATTTCCCACTCATTTTTGCAG 0.413 NA 34 181 2.19358e-23 3.29552e-23 0.005524 1 0 MUM1L1 139221 broad.mit.edu 37 X 105449798 105449798 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:105449798C>A uc004emf.1 + 4 1022 c.373C>A c.(373-375)CAG>AAG p.Q125K MUM1L1_uc004emg.1_Missense_Mutation_p.Q125K NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 125 ovary(2)|pancreas(1)|skin(1) 4 ACCACAAAAACAGTCCGATTC 0.433 NA 3 42 0.000602214 0.000655471 0.000602 1 0 AMOT 154796 broad.mit.edu 37 X 112024258 112024258 + Nonsense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:112024258C>A uc004epr.2 - 9 2329 c.2329G>T c.(2329-2331)GAG>TAG p.E777* AMOT_uc004eps.2_Nonsense_Mutation_p.E368*|AMOT_uc011mtc.1_Nonsense_Mutation_p.E17*|hsa-mir-4329|MI0015901_5'Flank NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 777 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 GACAGCTGCTCTGTCTTGCTC 0.547 NA 146 232 1.01383e-91 1.75365e-91 0.01441 1 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:112058796C>T uc004epr.2 - 2 1182 c.1182G>A c.(1180-1182)CAG>CAA p.Q394Q AMOT_uc004eps.2_5'UTR|AMOT_uc004ept.1_Silent_p.Q394Q NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 gctgctgctgctgttgttggt 0.338 NA 3 47 0 0 0.004672 0 0 KLHL13 90293 broad.mit.edu 37 X 117033333 117033333 + Silent SNP T T C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:117033333T>C uc004eql.2 - 7 1568 c.1506A>G c.(1504-1506)CAA>CAG p.Q502Q KLHL13_uc004eqk.2_Silent_p.Q451Q|KLHL13_uc011mtn.1_Silent_p.Q342Q|KLHL13_uc011mto.1_Silent_p.Q496Q|KLHL13_uc011mtp.1_Silent_p.Q504Q|KLHL13_uc004eqm.2_Silent_p.Q451Q|KLHL13_uc011mtq.1_Silent_p.Q486Q NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 502 Kelch 4. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 TGAGCTCCTTTTGGAAAGTAT 0.388 NA 34 232 0 0 0.004289 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249586 119249586 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:119249586C>A uc004esk.1 - 1 262 c.187G>T c.(187-189)GAT>TAT p.D63Y uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 63 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ATGCCGCCATCGCGGTTCATG 0.672 NA 26 49 4.00102e-26 6.12596e-26 0.00623 1 0 IGSF1 3547 broad.mit.edu 37 X 130420644 130420644 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:130420644G>T uc004ewd.2 - 2 243 c.5C>A c.(4-6)ACC>AAC p.T2N IGSF1_uc004ewe.3_5'UTR|IGSF1_uc004ewf.2_5'UTR|IGSF1_uc004ewg.2_Missense_Mutation_p.T2N NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 2 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 TCTGTCCAGGGTCATGGGGCC 0.522 NA 47 60 4.57556e-38 7.54732e-38 0.013114 1 0 BRS3 680 broad.mit.edu 37 X 135574142 135574142 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:135574142G>T uc004ezv.1 + 3 957 c.808G>T c.(808-810)GCC>TCC p.A270S NM_001727 NP_001718 P32247 BRS3_HUMAN bombesin-like receptor 3 270 Cytoplasmic (Potential). adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAAGAGAATTGCCAGAACGGT 0.323 NA 12 185 2.80697e-09 3.46808e-09 0.010729 1 0 VGLL1 51442 broad.mit.edu 37 X 135630900 135630900 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:135630900G>T uc004ezy.2 + 3 537 c.367G>T c.(367-369)GCC>TCC p.A123S MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) GGCTAGGAGGGCCTCTGTTCG 0.607 NA 87 362 1.19347e-43 2.01006e-43 0.01441 1 0 AFF2 2334 broad.mit.edu 37 X 148048333 148048333 + Missense_Mutation SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:148048333C>A uc004fcp.2 + 14 3406 c.2927C>A c.(2926-2928)CCA>CAA p.P976Q AFF2_uc004fcq.2_Missense_Mutation_p.P966Q|AFF2_uc004fcr.2_Missense_Mutation_p.P937Q|AFF2_uc011mxb.1_Missense_Mutation_p.P941Q|AFF2_uc004fcs.2_Missense_Mutation_p.P941Q|AFF2_uc011mxc.1_Missense_Mutation_p.P617Q NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 976 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) GGAGACACTCCAAAAAAGGCA 0.299 NA 37 141 1.52319e-26 2.35468e-26 0.00874 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092363 151092363 + Missense_Mutation SNP T T A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:151092363T>A uc004fez.2 + 3 383 c.227T>A c.(226-228)ATC>AAC p.I76N MAGEA4_uc004ffa.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffb.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffc.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffd.2_Missense_Mutation_p.I76N NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 76 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCCACTACCATCAGCTTCACT 0.607 NA 28 116 0 0 0.010818 0 0 NSDHL 50814 broad.mit.edu 37 X 152034484 152034484 + Missense_Mutation SNP G G T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:152034484G>T uc004fgt.1 + 7 926 c.665G>T c.(664-666)GGC>GTC p.G222V NSDHL_uc004fgs.1_Missense_Mutation_p.G222V NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 222 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GCCAGGAACGGCAAGATGAAG 0.567 NA 21 203 5.35356e-11 6.9924e-11 0.00278 1 0 PLXNA3 55558 broad.mit.edu 37 X 153695419 153695419 + Missense_Mutation SNP G G C TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:153695419G>C uc004flm.2 + 18 3300 c.3127G>C c.(3127-3129)GTG>CTG p.V1043L NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1043 IPT/TIG 3.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCATCACTGTGAGTGGGAC 0.662 NA 18 104 0 0 0.007413 0 0 F8 2157 broad.mit.edu 37 X 154225290 154225290 + Missense_Mutation SNP T T G TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:154225290T>G uc004fmt.2 - 3 517 c.346A>C c.(346-348)AGT>CGT p.S116R F8_uc011mzx.1_Missense_Mutation_p.S81R NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 116 Plastocyanin-like 1.|F5/8 type A 1. 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) GCATGAAGACTGACAGGATGG 0.443 NA 6 280 0 0 0.004482 0 0 MACF1 23499 broad.mit.edu 37 1 39827187 39827187 + Frame_Shift_Del DEL G G - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr1:39827187delG uc010oiu.1 + 13 8060 c.7929delG c.(7927-7929)CAGfs p.Q2643fs MACF1_uc010ois.1_Frame_Shift_Del_p.Q2141fs|MACF1_uc001cda.1_Frame_Shift_Del_p.Q2049fs|MACF1_uc001cdc.1_Frame_Shift_Del_p.Q1228fs|MACF1_uc001cdb.1_Frame_Shift_Del_p.Q1228fs NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4208 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTGTCTACAGCAGCAAGAAA 0.517 NA 13 114 --- --- --- --- NA NA NA NA NA C10orf78 119392 broad.mit.edu 37 10 105883551 105883553 + In_Frame_Del DEL TTA TTA - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 TTA TTA - - TTA TTA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr10:105883551_105883553delTTA uc001kxu.2 + 3 228_230 c.215_217delTTA c.(214-219)CTTAAA>CAA p.72_73LK>Q C10orf78_uc001kxs.2_In_Frame_Del_p.59_60LK>Q|C10orf78_uc001kxt.2_In_Frame_Del_p.26_27LK>Q|C10orf78_uc001kxv.2_In_Frame_Del_p.134_135LK>Q NM_001002759 NP_001002759 Q86XK3 SFR1_HUMAN hypothetical protein LOC119392 isoform a 72_73 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014) GTGAAACGTCTTAAAGTAGAGAG 0.33 NA 15 94 --- --- --- --- NA NA NA NA NA OR51L1 119682 broad.mit.edu 37 11 5020560 5020561 + Frame_Shift_Ins INS - - T TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr11:5020560_5020561insT uc010qyu.1 + 1 348_349 c.348_349insT c.(346-351)GTGTTGfs p.V116fs NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 116_117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCTCAGTGTTGCTGGCCAT 0.5 NA 76 154 --- --- --- --- NA NA NA NA NA SPIC 121599 broad.mit.edu 37 12 101876581 101876581 + Frame_Shift_Del DEL G G - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr12:101876581delG uc001tid.2 + 5 381 c.222delG c.(220-222)GCGfs p.A74fs SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Frame_Shift_Del_p.A73fs NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 74 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 ACAGTGCTGCGGACTTCTATT 0.244 NA 51 263 --- --- --- --- NA NA NA NA NA PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr14:35782216delA uc001wtd.2 + 5 648 c.539delA c.(538-540)GAAfs p.E180fs KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Frame_Shift_Del_p.E101fs|PSMA6_uc010tpu.1_Frame_Shift_Del_p.E101fs NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 NA 12 1516 --- --- --- --- NA NA NA NA NA TRAPPC6B 122553 broad.mit.edu 37 14 39620949 39620949 + Splice_Site DEL C C - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr14:39620949delC uc001wut.1 - 5 780 c.445_splice c.e5+1 p.C149_splice TRAPPC6B_uc001wuu.1_Splice_Site_p.C121_splice|TRAPPC6B_uc001wuv.1_Splice_Site|TRAPPC6B_uc010tqd.1_Splice_Site_p.C87_splice NM_001079537 NP_001073005 Q86SZ2 TPC6B_HUMAN trafficking protein particle complex 6B isoform vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0128) ATTCAACTTACAAGCAGGCAT 0.308 NA 25 252 --- --- --- --- NA NA NA NA NA ROCK2 9475 broad.mit.edu 37 2 11332269 11332273 + Splice_Site DEL ATTAC ATTAC - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 ATTAC ATTAC - - ATTAC ATTAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr2:11332269_11332273delATTAC uc002rbd.1 - 32 4612 c.4163_splice c.e32+1 p.S1388_splice NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) ATTTTAGTTTATTACCTAGGTTTGT 0.341 NA 39 118 --- --- --- --- NA NA NA NA NA PLEC 5339 broad.mit.edu 37 8 145010135 145010143 + In_Frame_Del DEL CTTGGCCGT CTTGGCCGT - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 CTTGGCCGT CTTGGCCGT - - CTTGGCCGT CTTGGCCGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chr8:145010135_145010143delCTTGGCCGT uc003zaf.1 - 6 1056_1064 c.886_894delACGGCCAAG c.(886-894)ACGGCCAAGdel p.TAK296del PLEC_uc003zab.1_In_Frame_Del_p.TAK159del|PLEC_uc003zac.1_In_Frame_Del_p.TAK163del|PLEC_uc003zad.2_In_Frame_Del_p.TAK159del|PLEC_uc003zae.1_In_Frame_Del_p.TAK127del|PLEC_uc003zag.1_In_Frame_Del_p.TAK137del|PLEC_uc003zah.2_In_Frame_Del_p.TAK145del|PLEC_uc003zaj.2_In_Frame_Del_p.TAK186del NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 296_298 CH 2.|Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCAGCTTCTCCTTGGCCGTCATGTCCTCC 0.617 NA 14 56 --- --- --- --- NA NA NA NA NA TCEAL5 340543 broad.mit.edu 37 X 102528926 102528926 + Frame_Shift_Del DEL C C - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:102528926delC uc004ejz.1 - 3 861 c.566delG c.(565-567)GGAfs p.G189fs NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 GCCCCTCACTCCCCTCACACC 0.388 NA 48 195 --- --- --- --- NA NA NA NA NA AFF2 2334 broad.mit.edu 37 X 147744260 147744260 + Frame_Shift_Del DEL C C - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:147744260delC uc004fcp.2 + 3 1491 c.1012delC c.(1012-1014)CCAfs p.P338fs AFF2_uc004fco.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcq.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcr.2_Frame_Shift_Del_p.P334fs|AFF2_uc011mxb.1_Frame_Shift_Del_p.P338fs|AFF2_uc004fcs.2_Frame_Shift_Del_p.P334fs NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 338 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) GACTAAACTGCCAAAGTTCAC 0.368 NA 15 82 --- --- --- --- NA NA NA NA NA F8 2157 broad.mit.edu 37 X 154221303 154221303 + Frame_Shift_Del DEL G G - TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 48262c89-ecac-44c6-9a06-7170b7b41058 9393041d-02ec-478c-b0f1-ca9bb6f9d0f1 g.chrX:154221303delG uc004fmt.2 - 4 680 c.509delC c.(508-510)CCAfs p.P170fs F8_uc011mzx.1_Frame_Shift_Del_p.P135fs NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 170 Plastocyanin-like 1.|F5/8 type A 1. 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) AAGGCACAGTGGGTCAGAGGC 0.458 NA 64 302 --- --- --- --- NA NA NA NA NA