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 PTCHD2 57540 broad.mit.edu 37 1 11595166 11595166 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:11595166C>A uc001ash.3 + 19 3772 c.3634C>A c.(3634-3636)CTC>ATC p.L1212I NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1212 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTGCCCGTGCTCCTCAGCAT 0.687 NA 3 21 0.000602214 0.000619421 0.014758 1 0 MFN2 9927 broad.mit.edu 37 1 12069782 12069782 + Silent SNP A A C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:12069782A>C uc001atn.3 + 18 2656 c.2203A>C c.(2203-2205)AGG>CGG p.R735R MFN2_uc009vni.2_Silent_p.R735R NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 735 Cytoplasmic (Potential).|Potential. blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AAAGCTGCTCAGGTGAGGCTG 0.572 NA 4 32 0 0 0.014758 0 0 PDPN 10630 broad.mit.edu 37 1 13940881 13940881 + Missense_Mutation SNP A A G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:13940881A>G uc001avd.2 + 5 734 c.685A>G c.(685-687)ATG>GTG p.M229V PDPN_uc001avc.2_Missense_Mutation_p.M229V|PDPN_uc009vob.2_Missense_Mutation_p.M111V|PDPN_uc009voc.2_Missense_Mutation_p.M111V|PDPN_uc001ave.2_Missense_Mutation_p.M111V|PDPN_uc001avf.2_Missense_Mutation_p.M111V NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 153 Cytoplasmic (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CGTTGTGGTTATGCGAAAAAT 0.423 NA 20 96 0 0 0.01892 0 0 HSPG2 3339 broad.mit.edu 37 1 22173972 22173972 + Missense_Mutation SNP T T A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:22173972T>A uc001bfj.2 - 62 8079 c.8039A>T c.(8038-8040)CAC>CTC p.H2680L HSPG2_uc009vqd.2_Missense_Mutation_p.H2681L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2680 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CAACCGCAGGTGGGAGCCATG 0.632 NA 38 121 0 0 0.01441 0 0 CYP4A11 1579 broad.mit.edu 37 1 47406939 47406939 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:47406939G>T uc001cqp.3 - 1 218 c.167C>A c.(166-168)TCC>TAC p.S56Y CYP4A11_uc001cqq.2_Missense_Mutation_p.S56Y|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 56 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GAGCCAGTGGGAGGGAGGGCA 0.597 NA 17 76 1.99824e-07 2.07509e-07 0.00499 1 0 INSL5 10022 broad.mit.edu 37 1 67263711 67263711 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:67263711C>G uc001dcw.2 - 2 428 c.393G>C c.(391-393)TTG>TTC p.L131F NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 131 extracellular region hormone activity 0 AAAGAGCACTCAAATCAGTCA 0.403 NA 9 54 0 0 0.008291 0 0 MAN1A2 10905 broad.mit.edu 37 1 117910819 117910819 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:117910819C>T uc001ehd.1 + 1 735 c.14C>T c.(13-15)GCC>GTC p.A5V MAN1A2_uc009whg.1_5'UTR NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 5 Cytoplasmic (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) ACTACCCCAGCCCTGCTGCCC 0.468 Ovarian(33;199 881 8228 13687 31538) NA 13 82 0 0 0.020292 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783693 149783693 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:149783693G>A uc001esr.2 - 1 236 c.186C>T c.(184-186)ATC>ATT p.I62I HIST2H2BF_uc010pbj.1_Silent_p.I62I|HIST2H2BF_uc010pbk.1_Silent_p.I62I NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 62 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) AGGAGTTCATGATGCCCATGG 0.612 NA 7 320 0 0 0.001984 0 0 PRPF3 9129 broad.mit.edu 37 1 150312943 150312943 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:150312943C>G uc001eum.3 + 9 1434 c.1272C>G c.(1270-1272)CTC>CTG p.L424L PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L383L|PRPF3_uc010pcb.1_Silent_p.L375L|PRPF3_uc009wlq.1_RNA NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 424 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CAGCCCAGCTCAATCCTCCAG 0.269 Ovarian(168;1070 2670 5178 20729) NA 4 95 0 0 0.009096 0 0 FLG 2312 broad.mit.edu 37 1 152276983 152276983 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:152276983G>A uc001ezu.1 - 3 10415 c.10379C>T c.(10378-10380)TCA>TTA p.S3460L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3460 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) ATGGGACCCTGAGTGTCCAGA 0.572 NA Ichthyosis 10 751 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:158627401G>A uc001fst.1 - 19 2870 c.2671C>T c.(2671-2673)CGA>TGA p.R891* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 891 Spectrin 9. 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) TCATTTTGTCGCCTAGCAGCT 0.463 NA 54 180 0 0 0.01441 0 0 C1orf116 79098 broad.mit.edu 37 1 207196808 207196808 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:207196808T>C uc001hfd.2 - 4 560 c.301A>G c.(301-303)ATC>GTC p.I101V C1orf116_uc009xcb.1_5'UTR NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 101 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) TGCTGAGTGATGGTCTCCTCT 0.567 NA 14 44 0 0 0.00499 0 0 TLR5 7100 broad.mit.edu 37 1 223285659 223285659 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:223285659T>C uc001hnv.1 - 4 1161 c.715A>G c.(715-717)ACA>GCA p.T239A TLR5_uc001hnw.1_Missense_Mutation_p.T239A NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 239 Extracellular (Potential). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) ATGTCCACTGTCCAGCCATTT 0.468 NA 3 92 0 0 0.009096 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296064 233296064 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:233296064A>T uc001hvl.2 - 19 3717 c.3482T>A c.(3481-3483)CTC>CAC p.L1161H PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1161 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TTTGTTTTTGAGAATGGGGTG 0.443 NA 5 49 0 0 0.00308 0 0 RYR2 6262 broad.mit.edu 37 1 237791371 237791371 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:237791371G>A uc001hyl.1 + 41 6551 c.6431G>A c.(6430-6432)CGT>CAT p.R2144H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2144 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCATGATTCGTGGATTAGGG 0.408 NA 21 39 0 0 0.021523 0 0 ZNF496 84838 broad.mit.edu 37 1 247464553 247464553 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247464553C>G uc001ico.2 - 9 1497 c.1032G>C c.(1030-1032)GAG>GAC p.E344D ZNF496_uc009xgv.2_Missense_Mutation_p.E380D|ZNF496_uc001icp.2_Missense_Mutation_p.E344D NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 344 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E344Q(1) ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CCAGGCTGTTCTCTAGAGATC 0.617 NA 3 106 0 0 0.004672 0 0 OR2G2 81470 broad.mit.edu 37 1 247752444 247752444 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247752444G>A uc010pyy.1 + 1 783 c.783G>A c.(781-783)ATG>ATA p.M261I NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 261 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) tcatcttcatgtatctgcagC 0.373 NA 35 99 0 0 0.015359 0 0 OR1C1 26188 broad.mit.edu 37 1 247921555 247921555 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:247921555C>G uc010pza.1 - 1 154 c.154G>C c.(154-156)GAC>CAC p.D52H NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGTGAGAGTCAAAGCCAATC 0.473 NA 3 49 0 0 0.004672 0 0 NEBL 10529 broad.mit.edu 37 10 21115407 21115407 + Missense_Mutation SNP C C T rs151035799 byFrequency TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:21115407C>T uc001iqi.2 - 18 2235 c.1838G>A c.(1837-1839)CGA>CAA p.R613Q NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 613 Nebulin 17. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TTTCTTCACTCGTTCGATCTC 0.323 NA 5 167 0 0 0.00308 0 0 HERC4 26091 broad.mit.edu 37 10 69684945 69684945 + Splice_Site SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:69684945C>G uc001jng.3 - 25 3174 c.2863_splice c.e25-1 p.N955_splice HERC4_uc009xpq.2_Splice_Site_p.N487_splice|HERC4_uc001jnf.3_Splice_Site|HERC4_uc001jnh.3_Splice_Site_p.N947_splice|HERC4_uc009xpr.2_Splice_Site_p.N877_splice|HERC4_uc001jni.3_Splice_Site_p.N691_splice NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 ATTCTGTATTCTAAAAACAAC 0.328 NA 11 22 0 0 0.008291 0 0 C10orf90 118611 broad.mit.edu 37 10 128193347 128193347 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr10:128193347G>C uc001ljq.2 - 3 543 c.422C>G c.(421-423)ACC>AGC p.T141S C10orf90_uc001ljp.2_Missense_Mutation_p.T94S|C10orf90_uc010qum.1_Missense_Mutation_p.T238S|C10orf90_uc009yao.2_Missense_Mutation_p.T238S|C10orf90_uc001ljs.1_Missense_Mutation_p.T94S NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 141 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GGCCGTGATGGTGATGGATGC 0.677 NA OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 52 0 0 0.006214 0 0 IGSF22 283284 broad.mit.edu 37 11 18743148 18743148 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr11:18743148G>A uc009yht.2 - 4 502 c.312C>T c.(310-312)AGC>AGT p.S104S IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 104 Ig-like 1. ovary(4)|large_intestine(2)|kidney(1) 7 TGGGGATGCCGCTCTCCCTCT 0.592 NA OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 136 0 0 0.014758 0 0 ITGA5 3678 broad.mit.edu 37 12 54797513 54797513 + Missense_Mutation SNP G G A rs143754928 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:54797513G>A uc001sga.2 - 17 1740 c.1672C>T c.(1672-1674)CGG>TGG p.R558W NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 558 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 AGTGCCCGCCGTACCCCTCCC 0.547 NA 10 56 0 0 0.00499 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016853 58016853 + Missense_Mutation SNP C C G rs146951916 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:58016853C>G uc001spe.2 + 7 1297 c.986C>G c.(985-987)TCT>TGT p.S329C SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 329 integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TCCCTCTTCTCTTGCTTTCCC 0.537 NA 4 284 0 0 0.014758 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688716 81688716 + Silent SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr12:81688716T>C uc001szo.1 - 24 2984 c.2823A>G c.(2821-2823)AGA>AGG p.R941R PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 867 ovary(3)|lung(2)|pancreas(1) 6 TTCCAATTTCTCTCTGGATCT 0.493 NA 5 32 0 0 0.014758 0 0 DACT1 51339 broad.mit.edu 37 14 59113480 59113480 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr14:59113480C>T uc001xdw.2 + 4 2303 c.2139C>T c.(2137-2139)TAC>TAT p.Y713Y DACT1_uc010trv.1_Silent_p.Y432Y|DACT1_uc001xdx.2_Silent_p.Y676Y|DACT1_uc010trw.1_Silent_p.Y432Y NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 713 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CTCTGCCCTACGCCAGCCCCT 0.672 NA 47 40 0 0 0.01441 0 0 DMXL2 23312 broad.mit.edu 37 15 51791717 51791717 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr15:51791717G>T uc002abf.2 - 18 3929 c.3704C>A c.(3703-3705)TCT>TAT p.S1235Y DMXL2_uc010ufy.1_Missense_Mutation_p.S1235Y|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1235 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CAAGTCTATAGATCTAAGAAG 0.423 NA 7 102 5.4927e-09 5.87339e-09 0.004482 1 0 MAPK6 5597 broad.mit.edu 37 15 52356644 52356644 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr15:52356644G>C uc002abp.2 + 6 2407 c.1613G>C c.(1612-1614)AGT>ACT p.S538T NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 538 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) ATTCAGCTTAGTTCCCAGCAT 0.383 NA 10 12 0 0 0.010729 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368296 74368296 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr15:74368296G>A uc002axa.1 - 8 636 c.595C>T c.(595-597)CGG>TGG p.R199W NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 199 Potential. 0 TGTAACCACCGCTGGAGGACC 0.572 NA 4 97 0 0 0.014758 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719074 55719074 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:55719074C>G uc002eif.2 + 5 775 c.664C>G c.(664-666)CAC>GAC p.H222D SLC6A2_uc010ccd.2_Missense_Mutation_p.H222D|SLC6A2_uc002eig.2_Missense_Mutation_p.H222D|SLC6A2_uc002eih.2_Missense_Mutation_p.H222D|SLC6A2_uc002eii.2_Missense_Mutation_p.H117D|SLC6A2_uc002eij.2_5'UTR NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 222 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CCTGCACCTTCACGAGAGCAG 0.597 NA 4 37 0 0 0.014758 0 0 NFAT5 10725 broad.mit.edu 37 16 69693761 69693761 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:69693761C>G uc002exm.1 + 6 2482 c.1274C>G c.(1273-1275)TCC>TGC p.S425C NFAT5_uc002exh.1_Missense_Mutation_p.S219C|NFAT5_uc002exi.2_Missense_Mutation_p.S349C|NFAT5_uc002exj.1_Missense_Mutation_p.S349C|NFAT5_uc002exk.1_Missense_Mutation_p.S349C|NFAT5_uc002exl.1_Missense_Mutation_p.S443C|NFAT5_uc002exn.1_Missense_Mutation_p.S443C NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 425 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AAAGATGGCTCCACTTTGACA 0.388 NA 14 102 0 0 0.007413 0 0 DHX38 9785 broad.mit.edu 37 16 72132853 72132853 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:72132853C>T uc002fcb.2 + 6 1147 c.792C>T c.(790-792)GAC>GAT p.D264D DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 264 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) ACTCGGATGACACGCCTCTGC 0.587 Melanoma(97;711 1442 7855 13832 28836) NA 5 30 0 0 0.001168 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:7578263G>A uc002gim.2 - 6 780 c.586C>T c.(586-588)CGA>TGA p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 196 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 29 0 0 0.01892 0 0 KIAA0100 9703 broad.mit.edu 37 17 26951367 26951367 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:26951367A>T uc002hbu.2 - 25 4735 c.4636T>A c.(4636-4638)TTT>ATT p.F1546I KIAA0100_uc002hbt.2_5'Flank NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1546 F -> L (in Ref. 4; CAI45940). extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AACACTACAAACCTATCTGTC 0.458 NA 23 61 0 0 0.014323 0 0 TADA2A 6871 broad.mit.edu 37 17 35830541 35830541 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:35830541G>A uc002hnt.2 + 13 1090 c.933G>A c.(931-933)GAG>GAA p.E311E TADA2A_uc002hnv.2_Silent_p.E311E|TADA2A_uc002hnw.2_Silent_p.E210E|TADA2A_uc010cvb.2_Silent_p.E107E NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 311 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 AGACACGGGAGGAAGAGCGCC 0.517 NA 27 149 0 0 0.007291 0 0 MED1 5469 broad.mit.edu 37 17 37565808 37565808 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:37565808C>G uc002hrv.3 - 17 2878 c.2666G>C c.(2665-2667)AGT>ACT p.S889T MED1_uc010wee.1_Missense_Mutation_p.S717T|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 889 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ATTATCCCCACTTTGGCTGCT 0.398 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 48 207 0 0 0.01441 0 0 EZH1 2145 broad.mit.edu 37 17 40855782 40855782 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:40855782C>A uc002iaz.2 - 19 2219 c.2074G>T c.(2074-2076)GTG>TTG p.V692L EZH1_uc002iba.2_Missense_Mutation_p.V683L|EZH1_uc010wgt.1_Missense_Mutation_p.V622L|EZH1_uc010wgu.1_Missense_Mutation_p.V698L|EZH1_uc010wgv.1_Missense_Mutation_p.V652L|EZH1_uc010wgw.1_Missense_Mutation_p.V553L|EZH1_uc010cyp.2_Missense_Mutation_p.V593L|EZH1_uc010cyq.2_Missense_Mutation_p.V609L|EZH1_uc010cyo.1_Missense_Mutation_p.V355L NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 692 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGGGATTCACTGAATGATTT 0.423 NA 10 90 7.03913e-09 7.45319e-09 0.013537 1 0 SLC39A11 201266 broad.mit.edu 37 17 71027795 71027795 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:71027795G>A uc002jjb.2 - 4 321 c.206C>T c.(205-207)TCC>TTC p.S69F SLC39A11_uc002jja.2_Missense_Mutation_p.S69F|SLC39A11_uc002jjc.1_Missense_Mutation_p.S69F NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 69 zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 GCCCCCAGAGGACGTGGCCAT 0.532 NSCLC(95;736 1527 12296 39625 41839) NA 25 33 0 0 0.005443 0 0 CARD14 79092 broad.mit.edu 37 17 78171948 78171948 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr17:78171948G>C uc002jxw.1 + 12 1840 c.1645G>C c.(1645-1647)GAT>CAT p.D549H CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.D549H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.D312H NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 549 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGGAAGGCTTGATGTCTCGGA 0.602 NA 3 126 0 0 0.001168 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:12187275G>C uc002mtb.2 + 4 1483 c.1340G>C c.(1339-1341)CGT>CCT p.R447P ZNF844_uc010dym.1_Missense_Mutation_p.R290P NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCGTATGAGTGTA 0.433 NA 3 61 0 0 0.009096 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795668 15795668 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:15795668G>C uc002nbl.2 + 8 1022 c.961G>C c.(961-963)GAG>CAG p.E321Q NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TATAAGAGCAGAGGCTGACAC 0.423 NA 4 73 0 0 0.014758 0 0 BCL3 602 broad.mit.edu 37 19 45262694 45262694 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:45262694C>T uc010xxe.1 + 9 1257 c.1187C>T c.(1186-1188)TCC>TTC p.S396F NM_005178 NP_005169 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 396 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding ovary(1)|lung(1) 2 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GGTCTTCTCTCCGCATCACCA 0.388 NA T IGH@ CLL 21 310 0 0 0.004656 0 0 ZNF615 284370 broad.mit.edu 37 19 52496695 52496695 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:52496695C>T uc002pye.1 - 6 1926 c.1634G>A c.(1633-1635)TGT>TAT p.C545Y ZNF615_uc002pyf.1_Missense_Mutation_p.C556Y|ZNF615_uc002pyg.1_Missense_Mutation_p.C437Y|ZNF615_uc002pyh.1_Missense_Mutation_p.C556Y|ZNF615_uc010epi.1_Missense_Mutation_p.C552Y|ZNF615_uc010ydg.1_Missense_Mutation_p.C550Y NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 545 C2H2-type 13. 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) GCCTTTTCCACACTCATTGCA 0.438 NA 11 94 0 0 0.013537 0 0 BRSK1 84446 broad.mit.edu 37 19 55814114 55814114 + Missense_Mutation SNP C C T rs144130246 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:55814114C>T uc002qkg.2 + 10 1184 c.907C>T c.(907-909)CGG>TGG p.R303W BRSK1_uc002qkf.2_Missense_Mutation_p.R319W|BRSK1_uc002qkh.2_5'UTR NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 303 R -> W (in a gastric adenocarcinoma sample; somatic mutation). 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 p.R303W(1) 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) CCCTGGCCGCCGGGTAGCCAT 0.632 NA 4 49 0 0 0.014758 0 0 C2orf16 84226 broad.mit.edu 37 2 27804634 27804634 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:27804634G>A uc002rkz.3 + 1 5246 c.5195G>A c.(5194-5196)AGA>AAA p.R1732K ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1732 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|13.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCCTCAGAGAGAAGCCATCAC 0.562 NA 6 249 0 0 0.001168 0 0 FAM98A 25940 broad.mit.edu 37 2 33817255 33817255 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:33817255G>T uc002rpa.1 - 3 303 c.229C>A c.(229-231)CTT>ATT p.L77I FAM98A_uc010yne.1_5'UTR NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 77 p.L77H(1) ovary(1) 1 all_hematologic(175;0.115) CTCACCTCAAGCTGGAATTCT 0.383 NA 7 179 1.06961e-07 1.12154e-07 0.00308 1 0 ALMS1 7840 broad.mit.edu 37 2 73676583 73676583 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:73676583G>A uc002sje.1 + 10 3043 c.2932G>A c.(2932-2934)GAA>AAA p.E978K ALMS1_uc002sjf.1_Missense_Mutation_p.E934K|ALMS1_uc002sjg.2_Missense_Mutation_p.E364K|ALMS1_uc002sjh.1_Missense_Mutation_p.E364K NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 976 34 X 47 AA approximate tandem repeat.|10. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCTACCTAGAGAATCTCTGAA 0.463 NA 14 101 0 0 0.006122 0 0 MERTK 10461 broad.mit.edu 37 2 112777075 112777075 + Missense_Mutation SNP G G T rs147779020 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:112777075G>T uc002thk.1 + 16 2287 c.2165G>T c.(2164-2166)CGA>CTA p.R722L MERTK_uc002thl.1_Missense_Mutation_p.R546L NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 722 Protein kinase.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TTTCTTCATCGAGATTTAGCT 0.463 NA 38 48 1.23103e-26 1.37063e-26 0.013114 1 0 NEB 4703 broad.mit.edu 37 2 152363473 152363473 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr2:152363473C>T uc010fnx.2 - 135 18594 c.18403G>A c.(18403-18405)GAC>AAC p.D6135N NEB_uc002txr.2_Missense_Mutation_p.D2558N|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_5'UTR|NEB_uc002txt.3_Missense_Mutation_p.D640N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6135 Nebulin 168. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGGCGTGTCTTGAACAACT 0.323 NA 20 32 0 0 0.007291 0 0 CHD6 84181 broad.mit.edu 37 20 40049523 40049523 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr20:40049523C>G uc002xka.1 - 31 5930 c.5752G>C c.(5752-5754)GAG>CAG p.E1918Q NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1918 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTTGCCACCTCTAAGCTTCCT 0.542 NA 4 89 0 0 0.014758 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887961 47887961 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr20:47887961G>C uc002xui.2 - 3 635 c.388C>G c.(388-390)CCC>GCC p.P130A NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 130 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCTGGTGGGGAGTCCGCCAC 0.527 NA 5 203 0 0 0.001168 0 0 DOPEY2 9980 broad.mit.edu 37 21 37633010 37633010 + Silent SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:37633010T>C uc002yvg.2 + 24 5374 c.5295T>C c.(5293-5295)TTT>TTC p.F1765F DOPEY2_uc011aeb.1_Silent_p.F1714F|DOPEY2_uc002yvh.2_Silent_p.F616F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1765 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TGTTGCAGTTTTGCTATGCTT 0.388 NA 63 143 0 0 0.01441 0 0 PRDM15 63977 broad.mit.edu 37 21 43239971 43239971 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr21:43239971C>T uc002yzq.1 - 25 3436 c.3325G>A c.(3325-3327)GTC>ATC p.V1109I PRDM15_uc002yzo.2_Missense_Mutation_p.V780I|PRDM15_uc002yzp.2_Missense_Mutation_p.V800I|PRDM15_uc002yzr.1_Missense_Mutation_p.V800I NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACTCGCGGACATTGTCGTGC 0.622 NA 20 36 0 0 0.021523 0 0 DMC1 11144 broad.mit.edu 37 22 38934594 38934594 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr22:38934594C>A uc003avz.1 - 10 785 c.610G>T c.(610-612)GAT>TAT p.D204Y DMC1_uc011anv.1_Missense_Mutation_p.D149Y NM_007068 NP_008999 Q14565 DMC1_HUMAN DMC1 dosage suppressor of mck1 homolog 204 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding ovary(1) 1 Melanoma(58;0.0286) GCTACATAATCAAGTAGCTCC 0.363 NA Homologous_recombination 4 146 0.00909568 0.0092673 0.009096 1 0 CYP2D7P1 1564 broad.mit.edu 37 22 42537252 42537252 + Silent SNP G G A rs2743457 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr22:42537252G>A uc003bci.2 - 7 1194 c.813C>T c.(811-813)CAC>CAT p.H271H CYP2D7P1_uc003bcg.2_Silent_p.H15H|CYP2D7P1_uc003bch.2_Silent_p.H15H|CYP2D7P1_uc010gyv.2_Silent_p.H55H|CYP2D7P1_uc010gyw.2_RNA|CYP2D7P1_uc010gyx.1_3'UTR NR_002570 SubName: Full=Cytochrome P450 2D6; EC=1.14.14.1; 0 GCTGCACCTCGTGAATCACGG 0.587 GBM(91;329 1845 13264 22235) NA 4 20 0 0 0.004482 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:32032046G>A uc011axg.1 + 2 2024 c.1475G>A c.(1474-1476)CGT>CAT p.R492H NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGACCTTCCGTCACAATTCA 0.403 NA 4 109 0 0 0.014758 0 0 SCN11A 11280 broad.mit.edu 37 3 38908865 38908865 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:38908865G>A uc011ays.1 - 23 4097 c.3898C>T c.(3898-3900)CTG>TTG p.L1300L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1300 Helical; Name=S6 of repeat III; (By similarity).|III. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAGAGATTCAGAGTGAAGAAT 0.363 NA 17 42 0 0 0.010504 0 0 MST1 4485 broad.mit.edu 37 3 49722464 49722464 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:49722464G>C uc003cxg.2 - 14 1675 c.1603C>G c.(1603-1605)CGG>GGG p.R535G NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 521 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCACTGCCGGGCAGTCAGT 0.592 GBM(110;181 1524 8005 22865 46297) NA 3 15 0 0 0.00308 0 0 PROS1 5627 broad.mit.edu 37 3 93617331 93617331 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:93617331C>A uc003drb.3 - 8 1151 c.810G>T c.(808-810)AAG>AAT p.K270N PROS1_uc010hoo.2_Missense_Mutation_p.K139N|PROS1_uc003dqz.3_Missense_Mutation_p.K139N NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 270 EGF-like 4; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGAATCCTTTCTTCCCATCAC 0.378 NA 28 61 6.07407e-21 6.69388e-21 0.007291 1 0 MYH15 22989 broad.mit.edu 37 3 108110646 108110646 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:108110646C>G uc003dxa.1 - 38 5508 c.5451G>C c.(5449-5451)CTG>CTC p.L1817L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1817 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TACTCCCCATCAGGGCCATCT 0.473 NA 5 247 0 0 0.001984 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111766638 111766638 + Silent SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:111766638G>C uc010hqb.2 + 5 575 c.405G>C c.(403-405)CCG>CCC p.P135P TMPRSS7_uc011bhr.1_5'UTR NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 261 Extracellular (Potential).|CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TCCACTACCCGCTGGAGATTT 0.473 NA 11 81 0 0 0.003163 0 0 WDR52 55779 broad.mit.edu 37 3 113115417 113115417 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:113115417G>A uc003eae.1 - 14 1773 c.1727C>T c.(1726-1728)GCT>GTT p.A576V NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 576 WD 7. central_nervous_system(1) 1 AGTGACACAAGCAGTATGGGG 0.383 NA 6 103 0 0 0.008291 0 0 CCDC37 348807 broad.mit.edu 37 3 126138959 126138959 + Silent SNP A A G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:126138959A>G uc003eiu.1 + 11 1068 c.969A>G c.(967-969)ACA>ACG p.T323T CCDC37_uc010hsg.1_Silent_p.T324T NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 323 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GTCAGGGTACAAAGAAGCCCT 0.647 NA 3 27 0 0 0.004672 0 0 WDR49 151790 broad.mit.edu 37 3 167277997 167277997 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:167277997C>T uc003fev.1 - 5 812 c.506G>A c.(505-507)GGG>GAG p.G169E WDR49_uc003feu.1_5'UTR|WDR49_uc011bpd.1_Missense_Mutation_p.G222E|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 169 WD 3. large_intestine(1)|ovary(1)|skin(1) 3 AACAGTAGACCCTGTATCAGA 0.378 NA 11 43 0 0 0.020292 0 0 PLD1 5337 broad.mit.edu 37 3 171394539 171394539 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:171394539G>A uc003fhs.2 - 18 2197 c.2081C>T c.(2080-2082)GCA>GTA p.A694V PLD1_uc003fht.2_Missense_Mutation_p.A656V|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.A19V NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 694 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GAAGTGACGTGCCACATCACG 0.532 NSCLC(149;2174 3517 34058) NA 50 68 0 0 0.01441 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917494 178917495 + Missense_Mutation DNP GC GC TG TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:178917494_178917495GC>TG uc003fjk.2 + 3 526_527 c.369_370GC>TG c.(367-372)ATGCCA>ATTGCA p.123_124MP>IA NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 123_124 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P124T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CTATCGGCATGCCAGTGTGTGA 0.347 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 34 60 0 0 0.004672 0 0 HRG 3273 broad.mit.edu 37 3 186383964 186383964 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr3:186383964C>T uc003fqq.2 + 1 167 c.144C>T c.(142-144)TTC>TTT p.F48F NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 48 Cystatin 1.|Interaction with ATP5A1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GCTACCTTTTCCAATTGCTGC 0.532 NA 6 150 0 0 0.00308 0 0 EREG 2069 broad.mit.edu 37 4 75245174 75245174 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr4:75245174T>C uc003hie.1 + 2 243 c.77T>C c.(76-78)CTT>CCT p.L26P EREG_uc003hid.2_Missense_Mutation_p.L20P NM_001432 NP_001423 O14944 EREG_HUMAN epiregulin preproprotein 26 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|skin(1) 2 Lung(101;0.196) GGTTTCCATCTTCTACAGGCA 0.363 NA 31 146 0 0 0.007835 0 0 PRDM8 56978 broad.mit.edu 37 4 81123237 81123237 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr4:81123237C>T uc010ijo.2 + 8 1460 c.621C>T c.(619-621)GGC>GGT p.G207G PRDM8_uc003hmb.3_Silent_p.G207G|PRDM8_uc003hmc.3_Silent_p.G207G NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 gcggcggcggcggtggcaaag 0.383 NA OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 0 0 0.004672 0 0 PRDM9 56979 broad.mit.edu 37 5 23527198 23527198 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:23527198G>A uc003jgo.2 + 11 2183 c.2001G>A c.(1999-2001)AGG>AGA p.R667R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 667 C2H2-type 7. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATGTCTGCAGGGAGTGTGGGC 0.622 NA HNSCC(3;0.000094) 31 83 0 0 0.01441 0 0 PTGER4 5734 broad.mit.edu 37 5 40692463 40692463 + Missense_Mutation SNP T T G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:40692463T>G uc003jlz.2 + 3 2042 c.1450T>G c.(1450-1452)TCA>GCA p.S484A NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 484 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 ACTGAACTTATCAGAAAAATG 0.458 NA 35 88 0 0 0.009718 0 0 IL31RA 133396 broad.mit.edu 37 5 55164714 55164714 + Nonsense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:55164714C>T uc003jql.2 + 3 315 c.250C>T c.(250-252)CAG>TAG p.Q84* IL31RA_uc003jqk.2_Nonsense_Mutation_p.Q84*|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Nonsense_Mutation_p.Q52*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.Q84*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.Q52*|IL31RA_uc003jqo.2_5'UTR NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 52 Extracellular (Potential).|Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAGTTATACCCAGTACACAGT 0.433 NA 13 88 0 0 0.004007 0 0 ALDH7A1 501 broad.mit.edu 37 5 125912887 125912887 + Silent SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:125912887C>T uc003ktx.2 - 6 726 c.534G>A c.(532-534)CTG>CTA p.L178L ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.L205L|ALDH7A1_uc003ktz.2_Silent_p.L205L NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 178 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) ACTGCTCAATCAGTGCATGGC 0.463 NA 7 45 0 0 0.001984 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530708 140530708 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:140530708C>A uc003lir.2 + 1 870 c.870C>A c.(868-870)TTC>TTA p.F290L PCDHB6_uc011dah.1_Missense_Mutation_p.F154L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 290 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCAACCCTTCGAAATAAACG 0.458 NA 26 46 2.61193e-14 2.82089e-14 0.009535 1 0 PCDH12 51294 broad.mit.edu 37 5 141336054 141336054 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:141336054C>T uc003llx.2 - 1 2574 c.1363G>A c.(1363-1365)GAC>AAC p.D455N NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 455 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCATTGTCGTTGATGTCA 0.483 NA 6 138 0 0 0.001168 0 0 CDHR2 54825 broad.mit.edu 37 5 176022672 176022672 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:176022672G>A uc003mem.1 + 32 3998 c.3932G>A c.(3931-3933)TGA>TAA p.*1311* CDHR2_uc003men.1_Silent_p.*1311* NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1311 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 ACGGACCTGTGACAGGGGCCC 0.622 NA 5 146 0 0 0.00308 0 0 HK3 3101 broad.mit.edu 37 5 176317899 176317899 + Missense_Mutation SNP G G A rs113978418 byFrequency TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:176317899G>A uc003mfa.2 - 5 550 c.458C>T c.(457-459)GCG>GTG p.A153V HK3_uc003mez.2_5'Flank NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 153 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGGCTGCGCATCCAGGAA 0.597 NA 26 74 0 0 0.00632 0 0 PROP1 5626 broad.mit.edu 37 5 177419761 177419761 + Silent SNP T T G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr5:177419761T>G uc003mif.1 - 3 939 c.630A>C c.(628-630)CCA>CCC p.P210P NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 210 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGGAGGGGGTGGGGGGCAGG 0.637 NA 6 49 0 0 0.016723 0 0 C6orf204 387119 broad.mit.edu 37 6 118832571 118832571 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr6:118832571G>C uc003pxz.1 - 5 1735 c.1147C>G c.(1147-1149)CAA>GAA p.Q383E C6orf204_uc003pya.1_Missense_Mutation_p.Q386E|C6orf204_uc003pyb.2_Missense_Mutation_p.Q383E|C6orf204_uc011ebj.1_Missense_Mutation_p.Q281E|C6orf204_uc003pyc.2_Missense_Mutation_p.Q386E NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 383 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) GTAATTTGTTGCTTCTGCCTG 0.353 NA 13 18 0 0 0.003163 0 0 SNX13 23161 broad.mit.edu 37 7 17838335 17838335 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:17838335C>G uc003stw.1 - 24 2737 c.2524G>C c.(2524-2526)GCC>CCC p.A842P SNX13_uc003stv.2_Missense_Mutation_p.A831P|SNX13_uc010kuc.2_Missense_Mutation_p.A628P|SNX13_uc010kub.2_Missense_Mutation_p.A237P Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 842 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ACTGAGTCGGCTACTTGTTCA 0.333 NA 6 13 0 0 0.004482 0 0 CAMK2B 816 broad.mit.edu 37 7 44274242 44274242 + Missense_Mutation SNP A A T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:44274242A>T uc003tkq.2 - 14 1265 c.1055T>A c.(1054-1056)GTC>GAC p.V352D CAMK2B_uc003tkp.2_Missense_Mutation_p.V352D|CAMK2B_uc003tkx.2_Missense_Mutation_p.V327D|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.V328D|CAMK2B_uc003tks.2_Missense_Mutation_p.V327D|CAMK2B_uc003tku.2_Missense_Mutation_p.V328D|CAMK2B_uc003tkv.2_Missense_Mutation_p.V328D|CAMK2B_uc003tkt.2_Missense_Mutation_p.V352D|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Missense_Mutation_p.V352D NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 352 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CCTCACCTTGACTCCATCTGC 0.647 NA 14 28 0 0 0.00499 0 0 MUC17 140453 broad.mit.edu 37 7 100686290 100686290 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:100686290C>T uc003uxp.1 + 3 11646 c.11593C>T c.(11593-11595)CGT>TGT p.R3865C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3865 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACTACCATACGTATTTCAAT 0.493 NA 19 133 0 0 0.006122 0 0 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NA 5 27 0 0 0.008361 0 0 TRIM35 23087 broad.mit.edu 37 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:27145561G>A uc003xfl.1 - 6 1070 c.988C>T c.(988-990)CGC>TGC p.R330C TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 330 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACCTGCACGCGGTAGCCATGG 0.657 NA 3 57 0 0 0.004672 0 0 KCNB2 9312 broad.mit.edu 37 8 73848794 73848794 + Missense_Mutation SNP T T C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:73848794T>C uc003xzb.2 + 3 1792 c.1204T>C c.(1204-1206)TGT>CGT p.C402R NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 402 Helical; Name=Segment S6; (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) AGGTCTGTGCTGTATTGCTGG 0.433 NA 23 96 0 0 0.010818 0 0 TTC35 9694 broad.mit.edu 37 8 109491251 109491251 + Missense_Mutation SNP C C T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:109491251C>T uc003ymw.1 + 10 754 c.719C>T c.(718-720)GCT>GTT p.A240V NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 240 endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) AGTCATATTGCTTCTAATCCA 0.328 NA 13 56 0 0 0.020292 0 0 SCRIB 23513 broad.mit.edu 37 8 144892864 144892864 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr8:144892864C>G uc003yzp.1 - 12 1403 c.1396G>C c.(1396-1398)GAG>CAG p.E466Q SCRIB_uc003yzo.1_Missense_Mutation_p.E466Q NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 466 Potential.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACCCGCTTCTCAGCTGCAGCT 0.647 Pancreas(51;966 1133 10533 14576 29674) NA 15 273 0 0 0.004007 0 0 UBAP2 55833 broad.mit.edu 37 9 33988994 33988994 + Missense_Mutation SNP C C T rs112150520 by1000genomes TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:33988994C>T uc003ztq.1 - 5 532 c.419G>A c.(418-420)AGA>AAA p.R140K UBAP2_uc011loc.1_Missense_Mutation_p.R102K|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R65K|UBAP2_uc011log.1_Missense_Mutation_p.R139K|UBAP2_uc003ztr.2_Missense_Mutation_p.R65K NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 140 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ATTGCCGCCTCTTCCTTTCCG 0.323 NA 9 139 0 0 0.016723 0 0 PAPPA 5069 broad.mit.edu 37 9 118950344 118950344 + Missense_Mutation SNP C C A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:118950344C>A uc004bjn.2 + 2 1708 c.1327C>A c.(1327-1329)CTG>ATG p.L443M PAPPA_uc011lxp.1_Missense_Mutation_p.L236M|PAPPA_uc011lxq.1_Missense_Mutation_p.L236M NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 443 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TTGCCGCCACCTGCGCCACCC 0.587 NA 26 77 3.65163e-15 3.98359e-15 0.00632 1 0 ASTN2 23245 broad.mit.edu 37 9 119903720 119903720 + Silent SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:119903720C>G uc004bjs.1 - 4 1154 c.1053G>C c.(1051-1053)CTG>CTC p.L351L ASTN2_uc004bjr.1_Silent_p.L351L|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 351 Cytoplasmic (Potential). integral to membrane p.G351G(1) skin(4)|ovary(3)|breast(1)|kidney(1) 9 ACTTCTGCATCAGGGACTCCA 0.592 NA 24 74 0 0 0.004656 0 0 OR1K1 392392 broad.mit.edu 37 9 125563288 125563288 + Missense_Mutation SNP G G A rs138952318 TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:125563288G>A uc011lze.1 + 1 887 c.887G>A c.(886-888)CGC>CAC p.R296H NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTCTGGAATCGCGATGTACAG 0.602 NA 30 108 0 0 0.013726 0 0 GAPVD1 26130 broad.mit.edu 37 9 128088766 128088766 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:128088766G>A uc010mwx.2 + 12 2256 c.1930G>A c.(1930-1932)GAT>AAT p.D644N GAPVD1_uc011lzs.1_Missense_Mutation_p.D644N|GAPVD1_uc004bpp.2_Missense_Mutation_p.D644N|GAPVD1_uc004bpq.2_Missense_Mutation_p.D644N|GAPVD1_uc004bpr.2_Missense_Mutation_p.D623N|GAPVD1_uc004bps.2_Missense_Mutation_p.D644N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D503N NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 644 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 ATTAACAGATGATAGGGACAT 0.378 NA 4 143 0 0 0.001984 0 0 PBX3 5090 broad.mit.edu 37 9 128691974 128691974 + Missense_Mutation SNP G G T TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:128691974G>T uc004bqb.2 + 4 673 c.557G>T c.(556-558)CGA>CTA p.R186L PBX3_uc004bqc.2_Missense_Mutation_p.R5L|PBX3_uc004bqd.2_Missense_Mutation_p.R5L|PBX3_uc011lzw.1_Missense_Mutation_p.R111L|PBX3_uc011lzx.1_Missense_Mutation_p.R97L|PBX3_uc004bqe.2_Missense_Mutation_p.R73L NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 186 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 AACCTTCTCCGAGAACAGAGT 0.383 NA 32 92 2.54651e-27 2.86482e-27 0.006999 1 0 RALGDS 5900 broad.mit.edu 37 9 135982592 135982592 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:135982592G>A uc004cco.2 - 7 1313 c.1293C>T c.(1291-1293)CGC>CGT p.R431R RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.R419R|RALGDS_uc004ccr.2_Silent_p.R430R|RALGDS_uc011mcv.1_Silent_p.R402R|RALGDS_uc004ccs.2_Silent_p.R376R|RALGDS_uc011mcw.1_Silent_p.R502R|RALGDS_uc004ccv.1_Silent_p.R200R|RALGDS_uc004ccu.1_Silent_p.R200R NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 431 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TGACAGTGGCGCGGATGGTGG 0.632 Melanoma(189;762 2088 15384 21931 52515) NA T CIITA PMBL|Hodgkin Lymphona| 4 122 0 0 0.001168 0 0 QSOX2 169714 broad.mit.edu 37 9 139100646 139100646 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr9:139100646G>A uc010nbi.2 - 12 2063 c.2025C>T c.(2023-2025)CTC>CTT p.L675L NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 675 Helical; (Potential). cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) ACATCACCATGAGGAACAGGG 0.632 NA 4 178 0 0 0.009096 0 0 TBC1D25 4943 broad.mit.edu 37 X 48419138 48419138 + Silent SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:48419138G>A uc004dka.1 + 6 1953 c.1842G>A c.(1840-1842)GGG>GGA p.G614G TBC1D25_uc011mly.1_Silent_p.G556G|TBC1D25_uc004dkb.1_Silent_p.G360G|TBC1D25_uc011mlz.1_Silent_p.G360G|TBC1D25_uc011mma.1_Silent_p.G360G|TBC1D25_uc004dkc.1_Silent_p.G360G|TBC1D25_uc011mmb.1_Silent_p.G618G|TBC1D25_uc011mmc.1_Silent_p.G360G|TBC1D25_uc011mmd.1_Silent_p.G360G NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 614 intracellular Rab GTPase activator activity ovary(1) 1 TTGGCCGGGGGAACCCATTCA 0.602 NA 8 111 0 0 0.008291 0 0 PGAM4 441531 broad.mit.edu 37 X 77224607 77224607 + Missense_Mutation SNP C C G TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:77224607C>G uc004ecy.1 - 1 529 c.529G>C c.(529-531)GAG>CAG p.E177Q ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 177 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CGTTTCCCCTCCTTGATCTGG 0.517 NA 10 87 0 0 0.010729 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899930 151899930 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chrX:151899930G>C uc010ntp.2 - 3 1225 c.871C>G c.(871-873)CTA>GTA p.L291V MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.L291V NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 291 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTGATCTTTAGCAAATGGTGC 0.562 NA 22 313 0 0 0.00632 0 0 EXO1 9156 broad.mit.edu 37 1 242035540 242035540 + Frame_Shift_Del DEL G G - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr1:242035540delG uc001hzh.2 + 12 2014 c.1474delG c.(1474-1476)GAAfs p.E492fs EXO1_uc001hzi.2_Frame_Shift_Del_p.E492fs|EXO1_uc001hzj.2_Frame_Shift_Del_p.E492fs|EXO1_uc009xgq.2_Frame_Shift_Del_p.E491fs NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 492 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AAGGAAAAATGAAGAAAGTGG 0.388 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 44 182 --- --- --- --- NA NA NA NA NA MMP2 4313 broad.mit.edu 37 16 55513411 55513411 + Frame_Shift_Del DEL G G - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr16:55513411delG uc002ehz.3 + 1 331 c.20delG c.(19-21)CGGfs p.R7fs MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 7 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTAATGGCCCGGGGCGCGCTC 0.751 NA 2 4 --- --- --- --- NA NA NA NA NA MARK4 57787 broad.mit.edu 37 19 45801106 45801106 + Frame_Shift_Del DEL C C - TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d27ab8c-983c-42e2-a958-7d1c2e1565e5 590a8323-5e25-40df-a126-aea41cdd600e g.chr19:45801106delC uc002pbb.1 + 15 1776 c.1771delC c.(1771-1773)CCCfs p.P591fs MARK4_uc002pba.1_Frame_Shift_Del_p.P591fs Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 591 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCAGAATGGGCCCCCTGCCTC 0.602 NA 2 4 --- --- --- --- NA NA NA NA NA