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 MIB2 142678 broad.mit.edu 37 1 1563878 1563878 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:1563878G>A uc001agg.2 + 16 2279 c.2152G>A c.(2152-2154)GAC>AAC p.D718N MIB2_uc001agh.2_Missense_Mutation_p.D704N|MIB2_uc001agi.2_Missense_Mutation_p.D714N|MIB2_uc001agj.2_Missense_Mutation_p.D559N|MIB2_uc001agk.2_Missense_Mutation_p.D653N|MIB2_uc001agl.1_Missense_Mutation_p.D674N|MIB2_uc001agm.2_Missense_Mutation_p.D595N|MIB2_uc010nyq.1_Missense_Mutation_p.D674N|MIB2_uc009vkh.2_Missense_Mutation_p.D524N|MIB2_uc001agn.2_Missense_Mutation_p.D350N|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 718 ANK 6. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGCCGCTGTGACGTGAACGT 0.726 NA 8 27 0 0 0.00308 0 0 PANK4 55229 broad.mit.edu 37 1 2440356 2440356 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:2440356G>C uc001ajm.1 - 19 2261 c.2252C>G c.(2251-2253)GCG>GGG p.A751G PANK4_uc010nza.1_Missense_Mutation_p.A712G NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 751 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGCCAGCCACGCGTTCTTGAT 0.652 NA 9 8 0 0 0.010729 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596438 11596438 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:11596438G>T uc001ash.3 + 21 4012 c.3874G>T c.(3874-3876)GCC>TCC p.A1292S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1292 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) CGTGGGCGTGGCCATCGTCTC 0.657 NA 38 69 9.8876e-21 1.27919e-20 0.021022 1 0 SPATA21 374955 broad.mit.edu 37 1 16727321 16727321 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:16727321C>T uc001ayn.2 - 11 1551 c.1068G>A c.(1066-1068)CGG>CGA p.R356R SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Silent_p.R333R NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 356 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCAACCGCAGCCGGCCTACGG 0.592 NA 115 293 0 0 0.01441 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20304613 20304613 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:20304613A>T uc001bcu.2 - 4 405 c.187T>A c.(187-189)TGC>AGC p.C63S PLA2G2A_uc001bcv.2_Missense_Mutation_p.C63S|PLA2G2A_uc010oda.1_Missense_Mutation_p.C63S|PLA2G2A_uc010odb.1_Missense_Mutation_p.C63S NM_001161729 NP_001155201 P14555 PA2GA_HUMAN phospholipase A2, group IIA precursor 63 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGACACAGCAGCTGTGAGGA 0.562 NA 24 58 0 0 0.021523 0 0 ZBTB40 9923 broad.mit.edu 37 1 22837737 22837737 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:22837737C>A uc001bft.2 + 11 2410 c.1899C>A c.(1897-1899)GCC>GCA p.A633A ZBTB40_uc001bfu.2_Silent_p.A633A|ZBTB40_uc009vqi.1_Silent_p.A521A|ZBTB40_uc001bfv.1_Silent_p.A262A NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 633 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGAGCAGAGCCATGGAAAAAT 0.512 NA 42 234 4.67007e-22 6.08195e-22 0.00874 1 0 LIN28A 79727 broad.mit.edu 37 1 26738039 26738039 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:26738039C>T uc001bmj.2 + 2 308 c.194C>T c.(193-195)GCG>GTG p.A65V LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 65 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 GCCGGGGTCGCGCTCGACCCC 0.647 NA 43 99 0 0 0.01441 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954745 33954745 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:33954745C>T uc001bxj.3 + 4 802 c.635C>T c.(634-636)CCA>CTA p.P212L ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.2_Missense_Mutation_p.P212L NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 212 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTACTCTCCCAAAGATGGGG 0.517 NA 16 54 0 0 0.008871 0 0 CSMD2 114784 broad.mit.edu 37 1 34554714 34554714 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:34554714C>A uc001bxn.1 - 2 177 c.148G>T c.(148-150)GCC>TCC p.A50S CSMD2_uc001bxm.1_Missense_Mutation_p.A90S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 50 CUB 1.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGCAGTTGGCGTAATTGGGG 0.552 NA 21 56 4.4004e-07 4.84539e-07 0.01892 1 0 NCDN 23154 broad.mit.edu 37 1 36029491 36029491 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:36029491G>A uc001bza.2 + 7 1861 c.1734G>A c.(1732-1734)CGG>CGA p.R578R NCDN_uc001bzb.2_Silent_p.R578R|NCDN_uc001bzc.2_Silent_p.R561R NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 578 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCATGGCCCGGCTCCTTAGCA 0.572 NA 23 59 0 0 0.014323 0 0 MTF1 4520 broad.mit.edu 37 1 38280877 38280877 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:38280877A>T uc001cce.1 - 11 2334 c.2193T>A c.(2191-2193)AAT>AAA p.N731K NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 731 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGGGAATCAGATTGGACGGGG 0.547 NA 6 158 0 0 0.001168 0 0 MACF1 23499 broad.mit.edu 37 1 39765882 39765882 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:39765882G>C uc010ois.1 + 23 2702 c.2497G>C c.(2497-2499)GAT>CAT p.D833H MACF1_uc001cda.1_Missense_Mutation_p.D741H|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 833 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATTTTGTAGGATGAAAAGGA 0.418 NA 16 180 0 0 0.006122 0 0 MACF1 23499 broad.mit.edu 37 1 39788376 39788376 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:39788376A>G uc010ois.1 + 33 4346 c.4141A>G c.(4141-4143)ATC>GTC p.I1381V MACF1_uc001cda.1_Missense_Mutation_p.I1289V|MACF1_uc001cdc.1_Missense_Mutation_p.I468V|MACF1_uc009vvq.1_Missense_Mutation_p.I438V|MACF1_uc001cdb.1_Missense_Mutation_p.I468V NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1381 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTCAGATGCCATCACTCAAGA 0.488 NA 33 91 0 0 0.010818 0 0 NFYC 4802 broad.mit.edu 37 1 41236480 41236480 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:41236480C>T uc001cge.2 + 10 1365 c.1357C>T c.(1357-1359)CCC>TCC p.P453S NFYC_uc001cfx.3_Missense_Mutation_p.P349S|NFYC_uc009vwd.2_Missense_Mutation_p.P330S|NFYC_uc001cfz.2_Missense_Mutation_p.P329S|NFYC_uc010ojn.1_Missense_Mutation_p.P292S|NFYC_uc001cfy.3_Missense_Mutation_p.P330S|NFYC_uc001cgc.2_Missense_Mutation_p.P296S|NFYC_uc001cgb.2_Missense_Mutation_p.P434S|NFYC_uc001cgd.3_Missense_Mutation_p.P330S NM_001142588 NP_001136060 Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma isoform 1 453 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|kidney(1) 3 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) CGGGCAGGCCCCCCAGGTGAC 0.642 NA 20 111 0 0 0.010504 0 0 EDN2 1907 broad.mit.edu 37 1 41948217 41948217 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:41948217C>T uc001cgx.2 - 3 336 c.264G>A c.(262-264)CGG>CGA p.R88R EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_Intron|EDN2_uc009vwj.2_Intron NM_001956 NP_001947 P20800 EDN2_HUMAN endothelin 2 preproprotein 88 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGAGCGGCGCCGGCGTCTTG 0.617 NA 13 22 0 0 0.004007 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659526 50659526 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:50659526G>A uc001csb.2 + 4 712 c.444G>A c.(442-444)CTG>CTA p.L148L ELAVL4_uc001cry.3_Silent_p.L151L|ELAVL4_uc001crz.3_Silent_p.L148L|ELAVL4_uc001csa.3_Silent_p.L165L|ELAVL4_uc001csc.3_Silent_p.L148L|ELAVL4_uc009vyu.2_Silent_p.L153L|ELAVL4_uc010omz.1_Silent_p.L153L NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 148 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 AGAAGGAACTGGAGCAACTTT 0.463 NA 82 190 0 0 0.01441 0 0 NRD1 4898 broad.mit.edu 37 1 52301803 52301803 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:52301803T>C uc001ctc.3 - 5 1238 c.916A>G c.(916-918)ATG>GTG p.M306V NRD1_uc009vzb.2_Missense_Mutation_p.M1V|NRD1_uc001ctd.3_Missense_Mutation_p.M238V|NRD1_uc001cte.2_Missense_Mutation_p.M174V|NRD1_uc001ctf.2_Missense_Mutation_p.M238V|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.M106V NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 237 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 AAATTCTTACTGTGCTCCAAA 0.423 NA 21 46 0 0 0.014323 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704107 52704107 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:52704107C>T uc001cto.2 + 4 1190 c.1018C>T c.(1018-1020)CTT>TTT p.L340F ZFYVE9_uc001ctn.2_Missense_Mutation_p.L340F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L340F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 340 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TTTACCTTTGCTTCTCAAACC 0.453 NA 54 123 0 0 0.01441 0 0 TTC22 55001 broad.mit.edu 37 1 55266541 55266541 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:55266541T>C uc009vzt.1 - 1 401 c.296A>G c.(295-297)AAC>AGC p.N99S TTC22_uc001cxz.3_Missense_Mutation_p.N99S NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 isoform 1 99 TPR 1. binding 0 GGCATTGAGGTTGCCCGGGTG 0.687 NA 13 15 0 0 0.013537 0 0 SERBP1 26135 broad.mit.edu 37 1 67878931 67878931 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:67878931G>C uc001ddv.2 - 8 1326 c.1186C>G c.(1186-1188)CCT>GCT p.P396A SERBP1_uc001ddx.2_Missense_Mutation_p.P390A|SERBP1_uc001ddy.2_Missense_Mutation_p.P375A|SERBP1_uc001ddw.2_Missense_Mutation_p.P381A NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 396 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 TCCACATCAGGAGCAGAAGCA 0.418 NA 4 47 0 0 0.001984 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512673 68512673 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:68512673C>A uc001ded.2 - 2 603 c.308G>T c.(307-309)CGC>CTC p.R103L uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 103 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 TATAACGTGGCGCTGCAGAGC 0.577 NA 58 308 1.13205e-32 1.54352e-32 0.01441 1 0 NEGR1 257194 broad.mit.edu 37 1 72163734 72163734 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:72163734A>T uc001dfw.2 - 4 724 c.624T>A c.(622-624)GAT>GAA p.D208E NEGR1_uc001dfv.2_Missense_Mutation_p.D80E|NEGR1_uc010oqs.1_Intron NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 208 Ig-like C2-type 2. D -> A (in Ref. 2). cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GGAATGACACATCATTTTCCG 0.353 NA 21 125 0 0 0.014323 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098634 78098634 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:78098634G>A uc001dhq.2 - 5 882 c.406C>T c.(406-408)CCT>TCT p.P136S ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P136S|ZZZ3_uc001dhp.2_Missense_Mutation_p.P136S NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 GATTTTATAGGAGAATCTTCT 0.383 NA 89 172 0 0 0.01441 0 0 GBP3 2635 broad.mit.edu 37 1 89481013 89481013 + Missense_Mutation SNP G G A rs142900270 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:89481013G>A uc001dmt.2 - 3 480 c.275C>T c.(274-276)ACC>ATC p.T92I GBP3_uc010oss.1_Missense_Mutation_p.T13I|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 92 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) CAGGACTAAGGTGTGTTCTGG 0.458 NA 34 243 0 0 0.013726 0 0 GBP3 2635 broad.mit.edu 37 1 89481019 89481019 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:89481019T>G uc001dmt.2 - 3 474 c.269A>C c.(268-270)GAA>GCA p.E90A GBP3_uc010oss.1_Missense_Mutation_p.E11A|GBP3_uc001dmu.2_5'UTR|GBP3_uc001dmv.2_RNA NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 90 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TAAGGTGTGTTCTGGCTTTTT 0.458 NA 33 244 0 0 0.010818 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178876 90178876 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:90178876G>T uc001dnl.3 + 3 989 c.747G>T c.(745-747)AGG>AGT p.R249S NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member 249 endoplasmic reticulum membrane|integral to membrane ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AGAAGTTCAGGCTGCATGTGG 0.403 NA 52 108 3.77171e-38 5.19688e-38 0.01441 1 0 ZNF644 84146 broad.mit.edu 37 1 91406850 91406850 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:91406850C>A uc001dnw.2 - 3 203 c.61G>T c.(61-63)GGG>TGG p.G21W ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G21W NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTGGCAAGCCCATTTAACACA 0.299 NA 29 136 1.90571e-15 2.34181e-15 0.019004 1 0 LPPR5 163404 broad.mit.edu 37 1 99470209 99470209 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:99470209C>T uc001dsb.2 - 1 241 c.19G>A c.(19-21)GCG>ACG p.A7T uc001dsd.1_Intron|LPPR5_uc001dsc.2_Missense_Mutation_p.A7T NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 7 integral to membrane hydrolase activity 0 CTGGTGAGCGCCGCGGGCAGC 0.572 NA 39 63 0 0 0.010771 0 0 OLFM3 118427 broad.mit.edu 37 1 102271669 102271669 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:102271669C>A uc001duf.2 - 5 793 c.722G>T c.(721-723)TGG>TTG p.W241L OLFM3_uc001dug.2_Missense_Mutation_p.W221L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.W146L|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 241 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GTCTGTCATCCAAGCACCAAA 0.408 NA 49 156 2.55665e-31 3.45588e-31 0.01441 1 0 COL11A1 1301 broad.mit.edu 37 1 103461446 103461446 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:103461446C>A uc001dul.2 - 28 2632 c.2314G>T c.(2314-2316)GGT>TGT p.G772C COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.G784C|COL11A1_uc001dun.2_Missense_Mutation_p.G733C|COL11A1_uc009weh.2_Missense_Mutation_p.G656C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 772 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCTTGAGACCTCTGACACCA 0.279 NA 4 192 1.23904e-05 1.32887e-05 0.014758 1 0 EPS8L3 79574 broad.mit.edu 37 1 110294756 110294756 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:110294756T>C uc001dyr.1 - 15 1440 c.1295A>G c.(1294-1296)CAT>CGT p.H432R EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyq.1_Missense_Mutation_p.H433R|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 432 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CTGAGGGTCATGGTTGTGTGT 0.562 NA 123 302 0 0 0.01441 0 0 KCNA2 3737 broad.mit.edu 37 1 111146592 111146592 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:111146592C>T uc001dzu.2 - 2 1309 c.813G>A c.(811-813)GGG>GGA p.G271G KCNA2_uc009wfv.1_Silent_p.G271G|KCNA2_uc009wfw.2_Silent_p.G271G NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 271 Helical; Name=Segment S3; (Potential). juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CCAACTCTGTCCCCAGGGTGA 0.532 Pancreas(18;568 735 10587 23710 36357) NA 43 185 0 0 0.010771 0 0 KCNA2 3737 broad.mit.edu 37 1 111147346 111147346 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:111147346T>C uc001dzu.2 - 2 555 c.59A>G c.(58-60)CAG>CGG p.Q20R KCNA2_uc009wfv.1_Missense_Mutation_p.Q20R|KCNA2_uc009wfw.2_Missense_Mutation_p.Q20R NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 20 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATAGGTGTCCTGTGGGTGCCC 0.587 Pancreas(18;568 735 10587 23710 36357) NA 108 243 0 0 0.01441 0 0 C1orf103 55791 broad.mit.edu 37 1 111494316 111494316 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:111494316T>C uc001eaa.2 - 2 1446 c.1190A>G c.(1189-1191)CAG>CGG p.Q397R C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) ACTCACTGTCTGTAACGTGTC 0.393 NA 69 367 0 0 0.01441 0 0 DDX20 11218 broad.mit.edu 37 1 112308806 112308806 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:112308806A>G uc001ebs.2 + 11 2117 c.1760A>G c.(1759-1761)TAC>TGC p.Y587C DDX20_uc010owf.1_Missense_Mutation_p.Y349C|DDX20_uc001ebt.2_Missense_Mutation_p.Y195C NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 587 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCAGCCATACACGTTGACT 0.443 NA 82 161 0 0 0.01441 0 0 ZNF697 90874 broad.mit.edu 37 1 120165639 120165639 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:120165639C>T uc001ehy.1 - 3 1441 c.1327G>A c.(1327-1329)GGG>AGG p.G443R NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 443 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) AAGCCCTTCCCGCACTCGCGG 0.667 NA 4 10 0 0 0.009096 0 0 FLG 2312 broad.mit.edu 37 1 152285774 152285774 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:152285774A>G uc001ezu.1 - 3 1624 c.1588T>C c.(1588-1590)TCC>CCC p.S530P uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 530 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) TCGTGGTGGGATCCCTGCCTT 0.602 NA Ichthyosis 15 893 0 0 0.014323 0 0 LCE3A 353142 broad.mit.edu 37 1 152595433 152595433 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:152595433C>G uc010pdt.1 - 1 147 c.147G>C c.(145-147)CTG>CTC p.L49L NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 49 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGTGACTCAGGCAGCAGC 0.657 NA 12 134 0 0 0.004007 0 0 INSRR 3645 broad.mit.edu 37 1 156823768 156823768 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:156823768G>T uc010pht.1 - 2 667 c.413C>A c.(412-414)GCT>GAT p.A138D NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A138D NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 138 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACACGCACAGCCCCACGCAG 0.632 NA 28 45 2.44723e-14 2.97001e-14 0.004656 1 0 OR10T2 128360 broad.mit.edu 37 1 158368853 158368853 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:158368853A>C uc010pih.1 - 1 404 c.404T>G c.(403-405)CTC>CGC p.L135R NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GTTTATGATGAGTGTGTACCT 0.463 NA 45 185 0 0 0.01441 0 0 OR6N1 128372 broad.mit.edu 37 1 158735615 158735615 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:158735615G>A uc010piq.1 - 1 858 c.858C>T c.(856-858)AAC>AAT p.N286N NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGATGAAGGGGTTGAGGAAGG 0.527 NA 86 268 0 0 0.01441 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923368 159923368 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:159923368G>T uc001fus.2 - 2 239 c.122C>A c.(121-123)CCC>CAC p.P41H SLAMF9_uc009wtd.2_Missense_Mutation_p.P41H|SLAMF9_uc001fut.2_Missense_Mutation_p.P41H NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 41 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TATTTCCAGGGGGAGGCTGAT 0.527 NA 69 130 2.18329e-32 2.9717e-32 0.01441 1 0 FCRLB 127943 broad.mit.edu 37 1 161692781 161692781 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:161692781C>A uc001gbh.2 + 4 268 c.34C>A c.(34-36)CCA>ACA p.P12T FCRLB_uc009wus.2_Missense_Mutation_p.P12T|FCRLB_uc001gbj.2_Missense_Mutation_p.P12T|FCRLB_uc001gbk.2_Missense_Mutation_p.P12T|FCRLB_uc001gbl.2_Intron|FCRLB_uc001gbm.2_Intron|FCRLB_uc001gbi.2_Missense_Mutation_p.P12T|FCRLB_uc001gbn.3_5'Flank NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 12 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TTCTGCAGTTCCAAGCAGTGG 0.458 NA 45 84 8.86878e-18 1.1125e-17 0.01441 1 0 RGS4 5999 broad.mit.edu 37 1 163043250 163043250 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:163043250G>C uc009wuy.2 + 4 727 c.216G>C c.(214-216)GGG>GGC p.G72G RGS4_uc001gcl.3_Silent_p.G169G|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.G54G NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 72 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 TCATAGGTGGGCTGGCAGCTT 0.423 Ovarian(76;1257 1738 3039 6086) NA 36 136 0 0 0.00623 0 0 RGS5 8490 broad.mit.edu 37 1 163172591 163172591 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:163172591C>A uc001gcn.2 - 1 282 c.35G>T c.(34-36)TGC>TTC p.C12F RGS5_uc009wvb.2_RNA NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 12 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) CCTTTCCAGGCATGAGTGGGG 0.448 NA 15 45 1.02788e-11 1.21182e-11 0.00499 1 0 MAEL 84944 broad.mit.edu 37 1 166973415 166973415 + Splice_Site SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:166973415A>G uc001gdy.1 + 6 595 c.524_splice c.e6-2 p.S175_splice MAEL_uc001gdz.1_Splice_Site_p.S144_splice|MAEL_uc009wvf.1_Splice_Site NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 TATTTCCCTCAGGTGATTCTA 0.378 NA 9 177 0 0 0.008291 0 0 XCL1 6375 broad.mit.edu 37 1 168550295 168550295 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:168550295T>C uc001gfo.1 + 3 202 c.182T>C c.(181-183)ATT>ACT p.I61T NM_002995 NP_002986 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 61 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity 0 all_hematologic(923;0.208) TACAGTTTTATTACCAAACGT 0.468 NA 30 46 0 0 0.008361 0 0 C1orf156 92342 broad.mit.edu 37 1 169761944 169761944 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:169761944T>C uc001ggn.2 - 2 1171 c.893A>G c.(892-894)AAC>AGC p.N298S C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 298 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATAATCTGGGTTGTAAATGGT 0.343 NA 12 55 0 0 0.013537 0 0 TNN 63923 broad.mit.edu 37 1 175063368 175063368 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:175063368G>A uc001gkl.1 + 7 1680 c.1567G>A c.(1567-1569)GCT>ACT p.A523T TNN_uc010pmx.1_Missense_Mutation_p.A523T NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 523 Fibronectin type-III 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGCAAGAAAGCTGACACCAA 0.532 NA 16 111 0 0 0.004007 0 0 TNR 7143 broad.mit.edu 37 1 175331897 175331897 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:175331897G>C uc001gkp.1 - 12 2837 c.2756C>G c.(2755-2757)ACC>AGC p.T919S TNR_uc009wwu.1_Missense_Mutation_p.T919S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 919 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCTGGTGATGGTGAATTCTGT 0.517 NA 45 153 0 0 0.01441 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564340 176564340 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:176564340G>T uc001gkz.2 + 3 2764 c.1600G>T c.(1600-1602)GAT>TAT p.D534Y PAPPA2_uc001gky.1_Missense_Mutation_p.D534Y|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 534 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAACATCTGTGATGATGAGGG 0.527 NA 53 79 1.21353e-23 1.59633e-23 0.01441 1 0 CACNA1E 777 broad.mit.edu 37 1 181548245 181548245 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:181548245G>T uc001gow.2 + 5 819 c.654G>T c.(652-654)ATG>ATT p.M218I CACNA1E_uc009wxr.2_Missense_Mutation_p.M125I|CACNA1E_uc009wxs.2_Missense_Mutation_p.M125I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 218 Cytoplasmic (Potential).|I. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TGAAGGCCATGGTACCTCTTC 0.488 NA 9 162 0.000442599 0.000462664 0.006214 1 0 LAMC2 3918 broad.mit.edu 37 1 183189974 183189974 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:183189974A>T uc001gqa.2 + 5 832 c.518A>T c.(517-519)TAC>TTC p.Y173F LAMC2_uc001gpz.3_Missense_Mutation_p.Y173F|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 173 Laminin EGF-like 3. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 CGATCAGGTTACTATAATCTG 0.443 NA 47 81 0 0 0.01441 0 0 RGL1 23179 broad.mit.edu 37 1 183885633 183885633 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:183885633C>T uc001gqo.2 + 16 1959 c.1802C>T c.(1801-1803)TCC>TTC p.S601F RGL1_uc001gqm.2_Missense_Mutation_p.S636F|RGL1_uc010pog.1_Missense_Mutation_p.S599F|RGL1_uc010poh.1_Missense_Mutation_p.S599F|RGL1_uc010poi.1_Missense_Mutation_p.S572F NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 601 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 GACACAAATTCCTCAGGGATG 0.507 NA 61 209 0 0 0.01441 0 0 RGS1 5996 broad.mit.edu 37 1 192547444 192547445 + Missense_Mutation DNP GA GA AG TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:192547444_192547445GA>AG uc001gsi.1 + 4 439_440 c.373_374GA>AG c.(373-375)GAG>AGG p.E125R RGS1_uc010pou.1_Missense_Mutation_p.E125R NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 125 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) TAAGAAAACAGAGTCTGATCTT 0.366 NA 62 198 0 0 0.004672 0 0 CFHR5 81494 broad.mit.edu 37 1 196971714 196971714 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:196971714G>T uc001gts.3 + 8 1378 c.1250G>T c.(1249-1251)TGT>TTT p.C417F NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 417 Sushi 7. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 GCTGTTCTCTGTAAAGAAAAC 0.388 NA 19 58 7.21436e-19 9.18192e-19 0.008871 1 0 PRELP 5549 broad.mit.edu 37 1 203452913 203452913 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:203452913G>T uc001gzs.2 + 2 801 c.601G>T c.(601-603)GAT>TAT p.D201Y PRELP_uc001gzt.2_Missense_Mutation_p.D201Y NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 201 Poly-Leu.|LRR 5. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) GCTGCTCCTGGATCTCCAGCA 0.607 NA 31 313 1.30897e-18 1.66326e-18 0.009535 1 0 SLC45A3 85414 broad.mit.edu 37 1 205631992 205631992 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:205631992C>G uc001hda.1 - 3 1266 c.927G>C c.(925-927)CCG>CCC p.P309P SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Silent_p.P143P|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 309 transmembrane transport integral to membrane p.P309L(1) SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCTCGGTGCCCGGCTCAGCTC 0.632 NA T ETV1|ETV5|ELK4|ERG prostate 27 91 0 0 0.005443 0 0 PIGR 5284 broad.mit.edu 37 1 207112588 207112588 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:207112588C>A uc001hez.2 - 3 448 c.264G>T c.(262-264)CCG>CCT p.P88P PIGR_uc009xbz.2_Silent_p.P88P NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 88 Ig-like V-type 1.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGCCGTTCTCCGGGAAGTTGG 0.592 NA 16 91 1.3612e-06 1.4884e-06 0.003163 1 0 CR1L 1379 broad.mit.edu 37 1 207867885 207867885 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:207867885G>A uc001hga.3 + 5 772 c.651G>A c.(649-651)TGG>TGA p.W217* CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 217 Sushi 3. cytoplasm|extracellular region|membrane 0 TGGGCATCTGGAGTGGCCCAG 0.463 NA 67 411 0 0 0.01441 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213445953 213445953 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:213445953G>C uc010ptr.1 + 15 3336 c.3177G>C c.(3175-3177)GTG>GTC p.V1059V RPS6KC1_uc001hkd.2_Silent_p.V1047V|RPS6KC1_uc010pts.1_Silent_p.V847V|RPS6KC1_uc010ptt.1_Silent_p.V847V|RPS6KC1_uc010ptu.1_Silent_p.V878V|RPS6KC1_uc010ptv.1_Silent_p.V594V|RPS6KC1_uc001hke.2_Silent_p.V878V NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1059 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TTACCCCTGTGGATTGGGCAG 0.458 NA 9 126 0 0 0.006214 0 0 DISP1 84976 broad.mit.edu 37 1 223178410 223178410 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:223178410C>G uc001hnu.1 + 8 3818 c.3671C>G c.(3670-3672)GCA>GGA p.A1224G NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1224 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AACAGCCAAGCAAAGAATTTA 0.473 NA 42 115 0 0 0.00623 0 0 LIN9 286826 broad.mit.edu 37 1 226426782 226426782 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:226426782G>A uc001hqa.2 - 12 1493 c.1183C>T c.(1183-1185)CCC>TCC p.P395S LIN9_uc001hqb.2_Missense_Mutation_p.P360S|LIN9_uc001hqc.2_Missense_Mutation_p.P327S|LIN9_uc009xel.1_Missense_Mutation_p.P360S NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 379 Potential. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) ATGCTGATGGGCATGGAATAT 0.343 Ovarian(197;1696 2974 11248 14117) NA 13 123 0 0 0.016723 0 0 JMJD4 65094 broad.mit.edu 37 1 227920196 227920196 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:227920196G>A uc001hrb.2 - 6 1289 c.1289C>T c.(1288-1290)GCG>GTG p.A430V SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.A414V NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 isoform 1 430 0 Prostate(94;0.0885) GTCGGGGTGCGCAACCAAGGA 0.627 NA 5 156 0 0 0.014758 0 0 OBSCN 84033 broad.mit.edu 37 1 228509331 228509331 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:228509331G>T uc009xez.1 + 55 14833 c.14789G>T c.(14788-14790)CGC>CTC p.R4930L OBSCN_uc001hsn.2_Missense_Mutation_p.R4930L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4930 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GTGCGAGCCCGCTGGCTGAAG 0.642 NA 29 37 3.65163e-15 4.48025e-15 0.00632 1 0 AGT 183 broad.mit.edu 37 1 230845985 230845985 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:230845985C>A uc001hty.3 - 2 1120 c.612G>T c.(610-612)CTG>CTT p.L204L AGT_uc009xfe.2_Silent_p.L204L|AGT_uc009xff.2_Silent_p.L176L NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 204 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CCGTGGACAGCAGCAGCTGGG 0.667 NA 25 52 3.6726e-16 4.53436e-16 0.021523 1 0 ACTN2 88 broad.mit.edu 37 1 236889278 236889278 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:236889278C>A uc001hyf.2 + 5 698 c.494C>A c.(493-495)ACT>AAT p.T165N ACTN2_uc001hyg.2_Translation_Start_Site|ACTN2_uc009xgi.1_Missense_Mutation_p.T165N NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 165 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CAGAGGAAAACTGCTCCTTAT 0.478 NA 13 322 4.3838e-07 4.8407e-07 0.016723 1 0 RYR2 6262 broad.mit.edu 37 1 237802406 237802406 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:237802406G>A uc001hyl.1 + 46 7140 c.7020G>A c.(7018-7020)GGG>GGA p.G2340G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2340 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) GAGAAGGTGGGAATGGGCTTC 0.502 NA 19 46 0 0 0.012319 0 0 RYR2 6262 broad.mit.edu 37 1 237948113 237948114 + Nonsense_Mutation DNP GG GG TT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:237948113_237948114GG>TT uc001hyl.1 + 90 13221_13222 c.13101_13102GG>TT c.(13099-13104)AAGGAG>AATTAG p.4367_4368KE>N* RYR2_uc010pya.1_Nonsense_Mutation_p.782_783KE>N* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4367_4368 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) CCGACTTAAAGGAGCTGACAGA 0.535 NA 48 58 0 0 0.004672 0 0 FMN2 56776 broad.mit.edu 37 1 240493928 240493928 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:240493928T>C uc010pyd.1 + 11 4688 c.4463T>C c.(4462-4464)ATG>ACG p.M1488T FMN2_uc010pye.1_Missense_Mutation_p.M1492T|FMN2_uc010pyf.1_Missense_Mutation_p.M134T|FMN2_uc010pyg.1_Missense_Mutation_p.M84T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1488 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCAGGGGTTATGCAGGTTCTA 0.383 NA 52 84 0 0 0.01441 0 0 EXO1 9156 broad.mit.edu 37 1 242048689 242048689 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:242048689G>T uc001hzh.2 + 15 2825 c.2285G>T c.(2284-2286)AGA>ATA p.R762I EXO1_uc001hzi.2_Missense_Mutation_p.R762I|EXO1_uc001hzj.2_Missense_Mutation_p.R762I|EXO1_uc009xgq.2_Missense_Mutation_p.R761I NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 762 Interaction with MSH2. 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) GGACCTGCCAGAGCCAGTGGG 0.478 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 25 44 6.00712e-18 7.57168e-18 0.012213 1 0 HNRNPU 3192 broad.mit.edu 37 1 245018903 245018903 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:245018903C>T uc001iaz.1 - 12 2393 c.2175G>A c.(2173-2175)GGG>GGA p.G725G HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.G449G|HNRNPU_uc001iba.1_Silent_p.G706G NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 725 RNA-binding RGG-box.|Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CGCCACGATTCCCAGGGGCTA 0.468 NSCLC(33;911 1010 3329 23631 49995) NA 11 90 0 0 0.003163 0 0 OR2G2 81470 broad.mit.edu 37 1 247751695 247751695 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:247751695C>G uc010pyy.1 + 1 34 c.34C>G c.(34-36)CTA>GTA p.L12V NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 12 Extracellular (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) TGAGAGCAACCTAGCAGGTTT 0.393 NA 106 132 0 0 0.01441 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249107312 249107312 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:249107312C>A uc001iew.1 - 6 1139 c.587G>T c.(586-588)CGA>CTA p.R196L SH3BP5L_uc010pzp.1_Missense_Mutation_p.R89L|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R164L|SH3BP5L_uc001iev.1_Missense_Mutation_p.R77L NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 196 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCGAGTCACTCGCTGGTGCTC 0.637 NA 5 6 2.14196e-07 2.38198e-07 0.007291 1 0 SFMBT2 57713 broad.mit.edu 37 10 7325987 7325987 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:7325987G>A uc009xio.1 - 6 742 c.651C>T c.(649-651)CGC>CGT p.R217R SFMBT2_uc001ijn.1_Silent_p.R217R|SFMBT2_uc010qay.1_Silent_p.R217R NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 217 MBT 2. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CATAGCGAAGGCGTAATCTTC 0.413 NA 11 173 0 0 0.016723 0 0 TAF3 83860 broad.mit.edu 37 10 8056639 8056639 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:8056639G>C uc010qbd.1 + 7 2715 c.2715G>C c.(2713-2715)ATG>ATC p.M905I NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 905 PHD-type. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 CAGAAGAGATGCAGTGGTTCT 0.507 NA 16 43 0 0 0.00499 0 0 C10orf47 254427 broad.mit.edu 37 10 11911910 11911910 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:11911910G>T uc001ikx.2 + 4 967 c.813G>T c.(811-813)CTG>CTT p.L271L uc001iky.1_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN hypothetical protein LOC254427 271 central_nervous_system(1) 1 GCAGGACCCTGTCCAGGGCGG 0.657 NA 6 2 0.000442599 0.000462664 0.006214 1 0 NUDT5 11164 broad.mit.edu 37 10 12209745 12209745 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:12209745G>T uc001ilj.2 - 10 1032 c.616C>A c.(616-618)CAT>AAT p.H206N SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron|uc001ili.1_5'Flank|NUDT5_uc001ilk.2_3'UTR NM_014142 NP_054861 Q9UKK9 NUDT5_HUMAN nudix-type motif 5 206 D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding ovary(1)|pancreas(1) 2 Renal(717;0.228) GCATTTGCATGTTTCAGTGCT 0.443 NA 103 109 1.07597e-44 1.50636e-44 0.01441 1 0 PTPLA 9200 broad.mit.edu 37 10 17636321 17636321 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:17636321C>T uc001ipg.2 - 6 702 c.667G>A c.(667-669)GCT>ACT p.A223T NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 223 Lumenal (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 GGCAAGGCAGCGTATATTGTA 0.313 NA 5 99 0 0 0.014758 0 0 ARMC3 219681 broad.mit.edu 37 10 23270366 23270366 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:23270366A>T uc001irm.3 + 9 1097 c.1014A>T c.(1012-1014)CAA>CAT p.Q338H ARMC3_uc010qcv.1_Missense_Mutation_p.Q338H|ARMC3_uc010qcw.1_Missense_Mutation_p.Q75H NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 338 ARM 8. binding 0 CTGCTTCCCAAGCTATTTCAG 0.363 NA 4 71 0 0 0.009096 0 0 ARMC3 219681 broad.mit.edu 37 10 23292330 23292330 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:23292330A>G uc001irm.3 + 13 1801 c.1718A>G c.(1717-1719)TAT>TGT p.Y573C ARMC3_uc010qcv.1_Missense_Mutation_p.Y573C|ARMC3_uc010qcw.1_Missense_Mutation_p.Y310C NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 573 binding 0 GATGGATTCTATGATTATGGT 0.333 NA 100 90 0 0 0.01441 0 0 ARMC4 55130 broad.mit.edu 37 10 28260243 28260243 + Splice_Site SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:28260243C>A uc009xky.2 - 8 1035 c.937_splice c.e8-1 p.G313_splice ARMC4_uc010qds.1_Intron|ARMC4_uc010qdt.1_Splice_Site_p.G5_splice|ARMC4_uc001itz.2_Splice_Site_p.G313_splice|ARMC4_uc010qdu.1_Splice_Site_p.G5_splice NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 binding ovary(4)|skin(2) 6 AGCTAATTCCCTTTATTTAAA 0.388 NA 7 61 0.00198382 0.00205458 0.001984 1 0 ZEB1 6935 broad.mit.edu 37 10 31810791 31810791 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:31810791A>G uc001ivs.3 + 7 2591 c.2528A>G c.(2527-2529)TAC>TGC p.Y843C ZEB1_uc001ivr.3_Missense_Mutation_p.Y625C|ZEB1_uc010qee.1_Missense_Mutation_p.Y625C|ZEB1_uc010qef.1_Missense_Mutation_p.Y625C|ZEB1_uc009xlj.1_Missense_Mutation_p.Y769C|ZEB1_uc010qeg.1_Missense_Mutation_p.Y702C|ZEB1_uc009xlk.1_Missense_Mutation_p.Y625C|ZEB1_uc001ivt.3_Missense_Mutation_p.Y625C|ZEB1_uc001ivu.3_Missense_Mutation_p.Y844C|ZEB1_uc001ivv.3_Missense_Mutation_p.Y823C|ZEB1_uc010qeh.1_Missense_Mutation_p.Y776C|ZEB1_uc009xlo.1_Missense_Mutation_p.Y826C|ZEB1_uc009xlp.2_Missense_Mutation_p.Y827C NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 843 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CAGGTGGCATACACCTACTCA 0.483 Ovarian(40;423 959 14296 36701 49589) NA 58 47 0 0 0.01441 0 0 CUL2 8453 broad.mit.edu 37 10 35327986 35327986 + Nonsense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:35327986C>A uc001ixv.2 - 9 949 c.739G>T c.(739-741)GAA>TAA p.E247* CUL2_uc009xma.2_Nonsense_Mutation_p.E116*|CUL2_uc010qer.1_Nonsense_Mutation_p.E266*|CUL2_uc001ixw.2_Nonsense_Mutation_p.E247*|CUL2_uc010qes.1_Nonsense_Mutation_p.E184* NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 247 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 CATCGAATTTCTTCATCTTTT 0.318 NA 6 54 0.00198382 0.00205458 0.001984 1 0 FRMPD2 143162 broad.mit.edu 37 10 49371699 49371699 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:49371699C>T uc001jgi.2 - 28 3660 c.3553G>A c.(3553-3555)GCT>ACT p.A1185T FRMPD2_uc001jgh.2_Missense_Mutation_p.A1153T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A1163T|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.A196T|FRMPD2_uc001jgg.2_Missense_Mutation_p.A137T|FRMPD2_uc001jgk.2_Missense_Mutation_p.A137T NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 1185 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TCTTTGTCAGCTGAGAGTTCA 0.458 NA 11 193 0 0 0.006122 0 0 ASAH2 56624 broad.mit.edu 37 10 52005145 52005145 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:52005145C>A uc001jjd.2 - 2 197 c.197G>T c.(196-198)CGC>CTC p.R66L ASAH2_uc009xos.2_Missense_Mutation_p.R66L NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 66 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 GGCTGTGGAGCGTTGGGCAGC 0.507 NA 35 66 1.61788e-16 2.01336e-16 0.012213 1 0 PCDH15 65217 broad.mit.edu 37 10 55591271 55591271 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:55591271C>A uc001jju.1 - 30 4401 c.4006G>T c.(4006-4008)GAT>TAT p.D1336Y PCDH15_uc010qhq.1_Missense_Mutation_p.D1341Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D1348Y|PCDH15_uc010qht.1_Missense_Mutation_p.D1343Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D1336Y|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D1299Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D1265Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D1341Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D1336Y|PCDH15_uc010qia.1_Missense_Mutation_p.D1314Y|PCDH15_uc010qib.1_Missense_Mutation_p.D1314Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1336 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTATTGATATCAAGTAGTTTG 0.353 NA HNSCC(58;0.16) 26 65 3.17567e-06 3.43885e-06 0.008361 1 0 ANK3 288 broad.mit.edu 37 10 61874084 61874084 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:61874084T>C uc001jky.2 - 26 3039 c.2847A>G c.(2845-2847)CTA>CTG p.L949L ANK3_uc001jkw.2_Silent_p.L83L|ANK3_uc009xpa.2_Silent_p.L83L|ANK3_uc001jkx.2_Silent_p.L127L|ANK3_uc010qih.1_Silent_p.L950L|ANK3_uc001jkz.3_Silent_p.L943L|ANK3_uc001jla.1_Silent_p.L15L|ANK3_uc001jlb.1_Silent_p.L456L NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 949 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTGTGAATGTTAGATGCTGAA 0.328 NA 10 63 0 0 0.006214 0 0 HERC4 26091 broad.mit.edu 37 10 69716678 69716678 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:69716678G>T uc001jng.3 - 18 2317 c.2006C>A c.(2005-2007)GCA>GAA p.A669E HERC4_uc009xpq.2_Missense_Mutation_p.A202E|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.A661E|HERC4_uc009xpr.2_Missense_Mutation_p.A669E|HERC4_uc001jni.3_Missense_Mutation_p.A405E NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 669 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 AGTAGTTTTTGCTTGGGCATC 0.318 NA 8 156 9.05144e-12 1.06872e-11 0.016723 1 0 USP54 159195 broad.mit.edu 37 10 75289573 75289573 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:75289573C>G uc001juo.2 - 13 1942 c.1925G>C c.(1924-1926)CGG>CCG p.R642P USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.R642P|USP54_uc010qkl.1_Missense_Mutation_p.R642P NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 642 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) AGAGCCTGGCCGTGCTGGGCC 0.522 Colon(195;880 2046 8854 25025 38456) NA OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 174 0 0 0.01441 0 0 KCNMA1 3778 broad.mit.edu 37 10 78708951 78708951 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:78708951G>C uc001jxn.2 - 22 2835 c.2658C>G c.(2656-2658)CTC>CTG p.L886L KCNMA1_uc001jxj.2_Silent_p.L832L|KCNMA1_uc001jxk.1_Silent_p.L504L|KCNMA1_uc009xrt.1_Silent_p.L677L|KCNMA1_uc001jxl.1_Silent_p.L511L|KCNMA1_uc001jxo.2_Silent_p.L869L|KCNMA1_uc001jxm.2_Silent_p.L828L|KCNMA1_uc001jxq.2_Silent_p.L831L NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 886 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ATTCCCGCTTGAGGTACTCAA 0.483 NA 9 188 0 0 0.008291 0 0 CDHR1 92211 broad.mit.edu 37 10 85968522 85968522 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:85968522C>T uc001kcv.2 + 12 1205 c.1205C>T c.(1204-1206)CCC>CTC p.P402L CDHR1_uc001kcw.2_Missense_Mutation_p.P402L|CDHR1_uc009xst.2_Missense_Mutation_p.P161L NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 402 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CTGGTGGGACCCAGGGGCATC 0.443 NA 6 43 0 0 0.001984 0 0 PAPSS2 9060 broad.mit.edu 37 10 89475536 89475536 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:89475536C>G uc001kex.2 + 7 1064 c.801C>G c.(799-801)CCC>CCG p.P267P PAPSS2_uc001kew.2_Silent_p.P267P|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 267 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) GGGCCACTCCCCTCAAAGGTT 0.438 NA 8 45 0 0 0.00308 0 0 LIPM 340654 broad.mit.edu 37 10 90572926 90572926 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:90572926A>T uc009xtm.1 + 3 505 c.338A>T c.(337-339)AAC>ATC p.N113I LIPM_uc009xtn.1_Missense_Mutation_p.N88I NM_001128215 NP_001121687 Q5VYY2 LIPM_HUMAN lipase, family member M precursor 113 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1) 1 AACCTGCCCAACAATAGCCTG 0.498 NA 5 16 0 0 0.014758 0 0 CEP55 55165 broad.mit.edu 37 10 95263113 95263113 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:95263113G>C uc009xug.2 + 3 609 c.427G>C c.(427-429)GAA>CAA p.E143Q CEP55_uc001kiq.3_Missense_Mutation_p.E143Q NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 143 Potential. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) TGCTGAACTTGAAAGCAAAAC 0.383 NA 22 104 0 0 0.016522 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779094 97779094 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:97779094T>C uc001kll.2 + 7 856 c.657T>C c.(655-657)AAT>AAC p.N219N uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.N219N|uc009xvb.1_RNA NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 219 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) ATGATAGAAATGTAAGTATAT 0.249 NA 15 97 0 0 0.020292 0 0 PDCD11 22984 broad.mit.edu 37 10 105194078 105194078 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:105194078C>G uc001kwy.1 + 24 3725 c.3638C>G c.(3637-3639)TCC>TGC p.S1213C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1213 S1 motif 10. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCAGATTCCTCCAAGACCCTC 0.552 NA 9 211 0 0 0.006214 0 0 CALHM1 255022 broad.mit.edu 37 10 105218247 105218247 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:105218247G>T uc001kxe.2 - 1 402 c.262C>A c.(262-264)CGC>AGC p.R88S NM_001001412 NP_001001412 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 88 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding ovary(1) 1 TTGGCCCGGCGGCCCAGCGGC 0.662 NA 9 32 3.07112e-06 3.33023e-06 0.010729 1 0 COL17A1 1308 broad.mit.edu 37 10 105797421 105797421 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:105797421C>T uc001kxr.2 - 46 3350 c.3181G>A c.(3181-3183)GCA>ACA p.A1061T NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1061 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ACGTGGCTTGCCAGCTCTGAG 0.592 NA 4 110 0 0 0.009096 0 0 C10orf79 80217 broad.mit.edu 37 10 105903388 105903388 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:105903388T>G uc001kxw.2 - 32 4070 c.3954A>C c.(3952-3954)AAA>AAC p.K1318N C10orf79_uc009xxq.2_Missense_Mutation_p.K597N NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1318 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GCGTTTTCTGTTTGGAAATCC 0.413 NA 13 43 0 0 0.013537 0 0 VTI1A 143187 broad.mit.edu 37 10 114428028 114428028 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:114428028T>A uc001kzy.2 + 6 855 c.479T>A c.(478-480)ATA>AAA p.I160K VTI1A_uc001kzz.2_Missense_Mutation_p.I160K NM_145206 NP_660207 Q96AJ9 VTI1A_HUMAN SNARE Vti1a-beta protein 160 Potential. intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity ovary(1) 1 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) AGAGAAAAGATACAGCGAGCA 0.358 NA 8 36 0 0 0.004482 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925681 114925681 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:114925681G>T uc001lae.3 + 14 2266 c.1759G>T c.(1759-1761)GCC>TCC p.A587S TCF7L2_uc001lac.3_Missense_Mutation_p.A581S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Missense_Mutation_p.A564S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Missense_Mutation_p.A564S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Missense_Mutation_p.A519S|TCF7L2_uc010qrs.1_Missense_Mutation_p.A475S|TCF7L2_uc010qrt.1_Missense_Mutation_p.A475S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 604 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CAGCTCCCTGGCCGGGACCCA 0.587 NA 18 66 6.94344e-10 7.97022e-10 0.006122 1 0 ATRNL1 26033 broad.mit.edu 37 10 117040877 117040877 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:117040877T>A uc001lcg.2 + 14 2499 c.2113T>A c.(2113-2115)TAC>AAC p.Y705N NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 705 PSI 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGTCAAGAACTACACCAAATG 0.284 NA 23 46 0 0 0.012319 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118203902 118203902 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:118203902A>G uc001lcl.3 + 4 434 c.333A>G c.(331-333)CTA>CTG p.L111L NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 111 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AGGTGTTGCTACAGCTGGAAG 0.358 NA 10 37 0 0 0.008291 0 0 C10orf120 399814 broad.mit.edu 37 10 124457832 124457832 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:124457832A>T uc001lgn.2 - 3 457 c.425T>A c.(424-426)ATA>AAA p.I142K NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 142 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TGCTGTCCATATTTTTTCTAG 0.458 NA 10 173 0 0 0.006214 0 0 MKI67 4288 broad.mit.edu 37 10 129907466 129907466 + Nonsense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:129907466C>A uc001lke.2 - 13 2833 c.2638G>T c.(2638-2640)GAG>TAG p.E880* MKI67_uc001lkf.2_Nonsense_Mutation_p.E520*|MKI67_uc009yav.1_Nonsense_Mutation_p.E455*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E30* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 880 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTCCTGAACTCTGTAGACCTT 0.403 NA 58 180 6.25564e-26 8.29852e-26 0.01441 1 0 STK32C 282974 broad.mit.edu 37 10 134059451 134059451 + Missense_Mutation SNP C C A rs142282211 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:134059451C>A uc001lle.1 - 2 411 c.271G>T c.(271-273)GAC>TAC p.D91Y STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.D104Y|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 91 ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGGAAGTGGTCGAAGTTCACT 0.637 NA 22 59 2.98393e-07 3.30891e-07 0.016522 1 0 INPP5A 3632 broad.mit.edu 37 10 134459432 134459432 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr10:134459432A>C uc001llp.2 + 3 426 c.178A>C c.(178-180)AAC>CAC p.N60H INPP5A_uc001llo.1_Missense_Mutation_p.N60H|INPP5A_uc001llq.2_Missense_Mutation_p.N12H NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 60 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGGAGGGAAGAACTACGAGGC 0.607 Pancreas(63;823 1267 11107 20380 51626) NA 5 45 0 0 0.001168 0 0 OR51E1 143503 broad.mit.edu 37 11 4674113 4674113 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:4674113G>T uc001lzi.3 + 2 501 c.357G>T c.(355-357)CTG>CTT p.L119L NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTGCTGCTGGCCATGGCTT 0.517 NA 23 93 2.89027e-11 3.377e-11 0.014323 1 0 HBD 3045 broad.mit.edu 37 11 5255426 5255426 + Missense_Mutation SNP G G T rs34383555 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:5255426G>T uc001maf.1 - 2 305 c.110C>A c.(109-111)CCT>CAT p.P37H NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 37 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGTCCAAGGGTAGACCAC 0.517 NA 42 122 1.57019e-19 2.01808e-19 0.007835 1 0 OR56A4 120793 broad.mit.edu 37 11 6024118 6024118 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:6024118G>T uc010qzv.1 - 1 261 c.261C>A c.(259-261)AGC>AGA p.S87R NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAGAGAAGGCTGAGGGGCA 0.592 NA 31 77 6.04164e-23 7.92082e-23 0.010818 1 0 OR52B2 255725 broad.mit.edu 37 11 6190952 6190952 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:6190952A>G uc010qzy.1 - 1 605 c.605T>C c.(604-606)TTC>TCC p.F202S NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCACTGAGAAGCCATACCA 0.488 NSCLC(5;186 261 1778 7098 14207) NA 9 40 0 0 0.013537 0 0 DCHS1 8642 broad.mit.edu 37 11 6661983 6661983 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:6661983C>A uc001mem.1 - 2 1272 c.862G>T c.(862-864)GGG>TGG p.G288W NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 288 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCACAGCCCCATTGACACCA 0.592 NA 47 126 2.77807e-22 3.62397e-22 0.013114 1 0 MRPL17 63875 broad.mit.edu 37 11 6704014 6704014 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:6704014G>C uc001men.2 - 2 312 c.207C>G c.(205-207)AAC>AAG p.N69K NM_022061 NP_071344 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 precursor 69 translation ribosome protein domain specific binding|structural constituent of ribosome 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCTCGTTCGTTAGTGTCTC 0.512 NA 18 45 0 0 0.016522 0 0 OR6A2 8590 broad.mit.edu 37 11 6816486 6816486 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:6816486C>A uc001mes.1 - 1 654 c.454G>T c.(454-456)GGC>TGC p.G152C NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCCAAGAGCCAGCAGCCATC 0.502 NA 30 72 7.26314e-15 8.89735e-15 0.007291 1 0 OR10A3 26496 broad.mit.edu 37 11 7961052 7961052 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:7961052G>A uc010rbi.1 - 1 16 c.16C>T c.(16-18)CAA>TAA p.Q6* NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACACAGCTTTGATTTTGTCTT 0.403 NA 45 85 0 0 0.009718 0 0 FSHB 2488 broad.mit.edu 37 11 30255202 30255202 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:30255202C>A uc001msl.2 + 3 314 c.245C>A c.(244-246)CCC>CAC p.P82H FSHB_uc001msm.2_Missense_Mutation_p.P82H|FSHB_uc001msn.2_Missense_Mutation_p.P82H NM_000510 NP_000501 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 82 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity ovary(3) 3 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GTGAGAGTGCCCGGCTGTGCT 0.502 NA 21 86 1.96292e-10 2.26313e-10 0.010504 1 0 DCDC1 341019 broad.mit.edu 37 11 31312213 31312214 + Missense_Mutation DNP CC CC AA TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:31312213_31312214CC>AA uc001msv.2 - 7 1142_1143 c.940_941GG>TT c.(940-942)GGA>TTA p.G314L DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 314 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TGTTTCTTTTCCCACTGTAATC 0.327 NA 24 62 0 0 0.004672 0 0 WT1 7490 broad.mit.edu 37 11 32413610 32413610 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:32413610C>A uc001mtn.1 - 9 1536 c.1340G>T c.(1339-1341)GGT>GTT p.G447V WT1_uc001mtl.1_Missense_Mutation_p.G235V|WT1_uc001mtm.1_Missense_Mutation_p.G218V|WT1_uc001mto.1_Missense_Mutation_p.G447V|WT1_uc001mtp.1_Missense_Mutation_p.G430V|WT1_uc001mtq.1_Missense_Mutation_p.G430V|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 379 Important for interaction with target DNA. G -> C (in NPHS4). adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G379V(2)|p.V380_S410del(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGGTTTCACACCTAAATGGAC 0.532 NA D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 120 218 3.84086e-47 5.38682e-47 0.01441 1 0 C11orf41 25758 broad.mit.edu 37 11 33628193 33628193 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:33628193C>T uc001mup.3 + 13 4137 c.4013C>T c.(4012-4014)GCG>GTG p.A1338V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1332 integral to membrane ovary(2) 2 TCAGTGCCAGCGAGTGACGAA 0.483 NA 7 85 0 0 0.008291 0 0 SLC1A2 6506 broad.mit.edu 37 11 35333830 35333830 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:35333830T>C uc001mwd.2 - 4 1068 c.476A>G c.(475-477)AAT>AGT p.N159S SLC1A2_uc001mwe.2_Missense_Mutation_p.N150S|SLC1A2_uc010rev.1_Missense_Mutation_p.N159S NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 159 Extracellular (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) CACTTCATCATTCTTCTTCCC 0.512 NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454) NA 48 399 0 0 0.01441 0 0 EXT2 2132 broad.mit.edu 37 11 44097136 44097136 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:44097136G>C uc010rfo.1 + 1 61 c.48G>C c.(46-48)AGG>AGC p.R16S ACCS_uc010rfm.1_Missense_Mutation_p.A111P|ACCS_uc009yks.1_Missense_Mutation_p.A184P|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.A184P NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GCTGTGTGAGGCCGGGGGTAA 0.577 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 15 137 0 0 0.020292 0 0 MADD 8567 broad.mit.edu 37 11 47314115 47314115 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:47314115A>C uc001ner.1 + 21 3574 c.3383A>C c.(3382-3384)GAA>GCA p.E1128A MADD_uc001neq.2_Intron|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Intron|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Missense_Mutation_p.E1128A|MADD_uc001nez.2_Intron|MADD_uc001new.2_Intron|MADD_uc009ylo.2_Missense_Mutation_p.E46A NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1128 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) AAGCACCAGGAAGTGAAAAAG 0.493 NA 16 101 0 0 0.006122 0 0 OR4C3 256144 broad.mit.edu 37 11 48346726 48346726 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:48346726C>T uc010rhv.1 + 1 234 c.234C>T c.(232-234)CCC>CCT p.P78P NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCTCCAGCCCCACGCTGGCTT 0.453 NA 13 197 0 0 0.013537 0 0 OR4A15 81328 broad.mit.edu 37 11 55136184 55136184 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:55136184C>A uc010rif.1 + 1 825 c.825C>A c.(823-825)GTC>GTA p.V275V NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 275 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCACTGTGGTCATTTTATTCT 0.408 NA 104 202 4.98208e-43 6.92544e-43 0.01441 1 0 OR8K5 219453 broad.mit.edu 37 11 55927514 55927514 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:55927514A>T uc010rja.1 - 1 280 c.280T>A c.(280-282)TAT>AAT p.Y94N NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CATGCATAATAGGAAATAGTA 0.403 NA 33 115 0 0 0.015359 0 0 OR5M1 390168 broad.mit.edu 37 11 56380147 56380147 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:56380147A>T uc001nja.1 - 1 832 c.832T>A c.(832-834)TAT>AAT p.Y278N NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAAAAAGTATAAAAGACTGCA 0.413 NA 139 242 0 0 0.01441 0 0 FAM111B 374393 broad.mit.edu 37 11 58891882 58891882 + Missense_Mutation SNP C C A rs150852006 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:58891882C>A uc001nnl.2 + 4 555 c.312C>A c.(310-312)AGC>AGA p.S104R FAM111B_uc001nnm.2_Missense_Mutation_p.S74R|FAM111B_uc010rko.1_Missense_Mutation_p.S74R NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 104 S -> G (in Ref. 3; AAH62456). catalytic activity ovary(2) 2 GTAAACCCAGCGAGAGTATCT 0.338 NA 35 85 2.47316e-13 2.97843e-13 0.015359 1 0 OR5A2 219981 broad.mit.edu 37 11 59190132 59190132 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:59190132C>G uc010rkt.1 - 1 295 c.295G>C c.(295-297)GCC>CCC p.A99P NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACTGAGTGGCACAGCCAACA 0.512 NA 43 74 0 0 0.010771 0 0 MS4A7 58475 broad.mit.edu 37 11 60150636 60150636 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:60150636A>G uc001npe.2 + 2 167 c.22A>G c.(22-24)ATG>GTG p.M8V MS4A7_uc001npf.2_Missense_Mutation_p.M8V|MS4A7_uc001npg.2_Missense_Mutation_p.M8V|MS4A7_uc001nph.2_Missense_Mutation_p.M8V|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.M8V NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 8 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 ATCCCAAACCATGGGGGTTTC 0.453 NA 58 107 0 0 0.01441 0 0 MS4A5 64232 broad.mit.edu 37 11 60198329 60198329 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:60198329T>A uc001npo.2 + 2 300 c.214T>A c.(214-216)TTG>ATG p.L72M NM_023945 NP_076434 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 72 Helical; (Potential). integral to membrane receptor activity large_intestine(1)|ovary(1) 2 CCTTTTCACCTTGTTAAAACC 0.368 NA 64 185 0 0 0.01441 0 0 DDB1 1642 broad.mit.edu 37 11 61077340 61077340 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:61077340C>T uc001nrc.3 - 20 2720 c.2494G>A c.(2494-2496)GGC>AGC p.G832S DDB1_uc010rle.1_Missense_Mutation_p.G143S|DDB1_uc010rlf.1_Missense_Mutation_p.G832S NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 832 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 ATTGCTGTGCCCACAATGAAG 0.512 NA NER 30 134 0 0 0.00632 0 0 AHNAK 79026 broad.mit.edu 37 11 62292744 62292744 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:62292744C>T uc001ntl.2 - 5 9445 c.9145G>A c.(9145-9147)GCT>ACT p.A3049T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3049 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAAGGTCAGCCTTGGGCAGG 0.498 NA 15 423 0 0 0.020292 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293630 71293630 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:71293630G>A uc001oqu.2 - 1 292 c.254C>T c.(253-255)TCC>TTC p.S85F NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 85 6 X 4 AA repeats of C-C-X-P. keratin filament 0 ACAGCAGTTGGACTGGGAGCA 0.358 NA 40 106 0 0 0.005524 0 0 C2CD3 26005 broad.mit.edu 37 11 73825446 73825446 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:73825446C>T uc001ouu.2 - 10 1940 c.1713G>A c.(1711-1713)GTG>GTA p.V571V C2CD3_uc001ouv.2_Silent_p.V571V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 571 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TTGCTGTAGTCACCTTAGGTG 0.408 NA 6 54 0 0 0.001984 0 0 NARS2 79731 broad.mit.edu 37 11 78204159 78204159 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:78204159T>C uc001ozi.2 - 7 1148 c.772A>G c.(772-774)ATG>GTG p.M258V NARS2_uc010rsq.1_Missense_Mutation_p.M31V NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 258 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) GCTTCTATCATATAAAACTCT 0.393 NA 57 80 0 0 0.01441 0 0 DLG2 1740 broad.mit.edu 37 11 83173087 83173087 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:83173087G>C uc001paj.2 - 22 2767 c.2464C>G c.(2464-2466)CGA>GGA p.R822G DLG2_uc001pai.2_Missense_Mutation_p.R701G|DLG2_uc010rsy.1_Missense_Mutation_p.R771G|DLG2_uc010rsz.1_Missense_Mutation_p.R818G|DLG2_uc010rta.1_Missense_Mutation_p.R804G|DLG2_uc001pak.2_Missense_Mutation_p.R927G|DLG2_uc010rtb.1_Missense_Mutation_p.R789G|DLG2_uc010rsw.1_Missense_Mutation_p.R286G|DLG2_uc010rsx.1_Missense_Mutation_p.R299G NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 822 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTAATTGCTCGATCATAGGTT 0.378 NA 16 91 0 0 0.006122 0 0 CCDC67 159989 broad.mit.edu 37 11 93118676 93118676 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:93118676G>C uc001pdq.2 + 8 1002 c.902G>C c.(901-903)GGA>GCA p.G301A CCDC67_uc001pdo.1_Missense_Mutation_p.G301A|CCDC67_uc001pdp.2_Missense_Mutation_p.G301A NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 301 ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TTAAAAATAGGAGAGTGCCAA 0.323 NA 12 36 0 0 0.010729 0 0 PIWIL4 143689 broad.mit.edu 37 11 94322291 94322291 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:94322291A>G uc001pfa.2 + 8 1130 c.919A>G c.(919-921)AAT>GAT p.N307D PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 307 PAZ. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGGCAGATACAATAACAGAAC 0.378 NA 19 76 0 0 0.006122 0 0 CWF19L2 143884 broad.mit.edu 37 11 107207336 107207336 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:107207336T>G uc010rvp.1 - 15 2336 c.2306A>C c.(2305-2307)GAA>GCA p.E769A CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 769 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) AGGAATACATTCATAAACCAT 0.333 NA 27 70 0 0 0.009535 0 0 NPAT 4863 broad.mit.edu 37 11 108040747 108040747 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:108040747G>C uc001pjz.3 - 14 2911 c.2809C>G c.(2809-2811)CCA>GCA p.P937A NPAT_uc010rvv.1_5'UTR NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 937 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) GGCTGGACTGGAGAGGCAATT 0.383 NA 108 116 0 0 0.01441 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035851 110035851 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:110035851C>T uc009yxw.2 + 6 2092 c.2041C>T c.(2041-2043)CAC>TAC p.H681Y ZC3H12C_uc010rwc.1_Missense_Mutation_p.H682Y|ZC3H12C_uc010rwd.1_Missense_Mutation_p.H682Y|ZC3H12C_uc001pkr.3_Missense_Mutation_p.H650Y NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 681 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GCAGAATTTCCACGACCCCTT 0.547 NA 71 484 0 0 0.01441 0 0 FAM55D 54827 broad.mit.edu 37 11 114453150 114453150 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:114453150G>C uc001ppc.2 - 3 871 c.690C>G c.(688-690)TGC>TGG p.C230W FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 230 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CCAGGTACTGGCACAATTCAG 0.478 NA 23 211 0 0 0.016522 0 0 DSCAML1 57453 broad.mit.edu 37 11 117308768 117308768 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:117308768G>T uc001prh.1 - 25 4457 c.4455C>A c.(4453-4455)AGC>AGA p.S1485R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1425 Fibronectin type-III 5.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCCACTCCTCGCTGTTGTCCA 0.602 NA 44 39 4.1673e-28 5.56587e-28 0.01441 1 0 IL10RA 3587 broad.mit.edu 37 11 117870171 117870171 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:117870171C>A uc001prv.2 + 7 1629 c.1552C>A c.(1552-1554)CAG>AAG p.Q518K IL10RA_uc010rxl.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxm.1_Missense_Mutation_p.Q498K|IL10RA_uc010rxn.1_Missense_Mutation_p.Q369K|IL10RA_uc001prw.2_Missense_Mutation_p.Q369K NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 518 Cytoplasmic (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) ACAGTGGAACCAGCCCACTGA 0.577 NA 59 69 2.47907e-22 3.23931e-22 0.01441 1 0 FOXR1 283150 broad.mit.edu 37 11 118851198 118851198 + Splice_Site SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:118851198A>G uc001pui.2 + 5 837 c.612_splice c.e5-2 p.R204_splice FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Splice_Site_p.R35_splice NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CCCTGTCCATAGAAAGCACTT 0.537 NA 82 117 0 0 0.01441 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971090 118971090 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:118971090C>A uc001pvi.2 - 4 945 c.525G>T c.(523-525)CTG>CTT p.L175L DPAGT1_uc001pvj.2_Silent_p.L68L|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.L3L|DPAGT1_uc010ryz.1_Silent_p.L175L|DPAGT1_uc001pvm.1_Silent_p.L68L|DPAGT1_uc010rza.1_Silent_p.L68L NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 175 Helical; (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) ACACTGCCAGCAGCCCCATGT 0.463 NA OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 195 1.19403e-26 1.58665e-26 0.01441 1 0 POU2F3 25833 broad.mit.edu 37 11 120175882 120175882 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:120175882G>A uc001pxc.2 + 7 690 c.588G>A c.(586-588)AAG>AAA p.K196K POU2F3_uc010rzk.1_Silent_p.K150K|POU2F3_uc010rzl.1_Silent_p.K126K|POU2F3_uc001pxe.1_5'Flank NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 196 POU-specific. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGTTTGCCAAGACCTTCAAGC 0.567 NA 30 233 0 0 0.008361 0 0 HSPA8 3312 broad.mit.edu 37 11 122930824 122930824 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:122930824C>T uc001pyo.2 - 4 642 c.564G>A c.(562-564)AAG>AAA p.K188K HSPA8_uc009zbc.2_5'UTR|HSPA8_uc001pyp.2_Silent_p.K188K|HSPA8_uc010rzu.1_Silent_p.K111K|HSPA8_uc009zbd.1_Silent_p.K188K|HSPA8_uc010rzv.1_Silent_p.K188K NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 188 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGGTACATACCTTTTTGTCTA 0.368 Colon(21;486 594 5900 6733 14272) NA 18 192 0 0 0.007413 0 0 OR10G4 390264 broad.mit.edu 37 11 123887150 123887150 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:123887150G>A uc010sac.1 + 1 869 c.869G>A c.(868-870)AGA>AAA p.R290K NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 290 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TACACCCTGAGAAACAAGGAG 0.433 NA 80 110 0 0 0.01441 0 0 FEZ1 9638 broad.mit.edu 37 11 125325834 125325834 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:125325834T>A uc001qbx.2 - 6 988 c.836A>T c.(835-837)AAC>ATC p.N279I FEZ1_uc001qbw.2_Missense_Mutation_p.N69I|FEZ1_uc010sbc.1_Missense_Mutation_p.N250I NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 279 Potential. axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CTTCTGCTTGTTCTGAACCTC 0.542 Melanoma(180;509 2033 10762 15939 24711) NA 9 265 0 0 0.006214 0 0 KCNJ1 3758 broad.mit.edu 37 11 128710054 128710054 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:128710054T>A uc001qeo.1 - 2 193 c.142A>T c.(142-144)AGG>TGG p.R48W KCNJ1_uc001qep.1_Missense_Mutation_p.R29W|KCNJ1_uc001qeq.1_Missense_Mutation_p.R29W|KCNJ1_uc001qer.1_Missense_Mutation_p.R29W|KCNJ1_uc001qes.1_Missense_Mutation_p.R29W NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 48 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ATGTTGCACCTTCCATCTTTG 0.438 NA 10 293 0 0 0.006214 0 0 ST14 6768 broad.mit.edu 37 11 130058061 130058061 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:130058061A>G uc001qfw.2 + 2 327 c.134A>G c.(133-135)AAG>AGG p.K45R ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 45 Cytoplasmic (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AACAACGTCAAGAAGGTGGAA 0.617 NA 36 51 0 0 0.01441 0 0 OPCML 4978 broad.mit.edu 37 11 132307138 132307138 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:132307138C>T uc001qgs.2 - 4 692 c.642G>A c.(640-642)CGG>CGA p.R214R OPCML_uc001qgu.2_Silent_p.R207R|OPCML_uc010sck.1_Silent_p.R214R|OPCML_uc001qgt.2_Silent_p.R213R|OPCML_uc010scl.1_Silent_p.R173R NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 214 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TTTTTACTTTCCGCACATCGG 0.542 NA 6 279 0 0 0.001984 0 0 GLB1L2 89944 broad.mit.edu 37 11 134240907 134240907 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:134240907C>G uc001qhp.2 + 13 1409 c.1221C>G c.(1219-1221)ATC>ATG p.I407M GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 407 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CGCAGCCAATCAAGTCTGAAA 0.567 NA 53 309 0 0 0.01441 0 0 WNK1 65125 broad.mit.edu 37 12 970256 970256 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:970256G>C uc001qio.3 + 7 2205 c.1698G>C c.(1696-1698)AAG>AAC p.K566N WNK1_uc001qip.3_Missense_Mutation_p.K566N|WNK1_uc001qir.3_Missense_Mutation_p.K13N NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 566 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CATTAATTAAGAGGAAACGAG 0.433 Colon(19;451 567 6672 12618 28860) NA 78 323 0 0 0.01441 0 0 PZP 5858 broad.mit.edu 37 12 9344799 9344799 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:9344799C>A uc001qvl.2 - 13 1565 c.1536G>T c.(1534-1536)GAG>GAT p.E512D PZP_uc009zgl.2_Missense_Mutation_p.E381D NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGTCTCCTGACTCCACAGGCA 0.463 Melanoma(125;1402 1695 4685 34487 38571) NA 17 34 1.67942e-08 1.89176e-08 0.006122 1 0 DDX12 440081 broad.mit.edu 37 12 9573997 9573997 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:9573997T>G uc010sgs.1 - 20 2234 c.2039A>C c.(2038-2040)GAC>GCC p.D680A DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 CTGAGGCAGGTCTCTCTTCTG 0.617 NA 7 12 0 0 0.008361 0 0 CLEC7A 64581 broad.mit.edu 37 12 10280406 10280406 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:10280406C>T uc001qxg.2 - 2 329 c.142G>A c.(142-144)GTA>ATA p.V48I CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxh.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxi.2_Missense_Mutation_p.V48I|CLEC7A_uc001qxj.2_Intron|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Missense_Mutation_p.V48I|CLEC7A_uc010sgy.1_Missense_Mutation_p.V48I|CLEC7A_uc001qxm.1_Missense_Mutation_p.V48I|CLEC7A_uc001qxn.2_Missense_Mutation_p.V48I NM_197947 NP_922938 Q9BXN2 CLC7A_HUMAN dendritic cell-associated C-type lectin 1 48 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1) 1 CCCAAAATTACAGCAATGAGG 0.458 NA 4 4 0 0 0.009096 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21068974 21068974 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:21068974C>G uc001rek.2 + 15 2028 c.1902C>G c.(1900-1902)TTC>TTG p.F634L SLCO1B3_uc001rel.2_Missense_Mutation_p.F634L|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 634 Helical; Name=12; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CTTTAAGATTCCCAGCACTTG 0.294 NA 5 172 0 0 0.001168 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349976 21349976 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:21349976C>A uc001req.3 + 8 928 c.824C>A c.(823-825)CCA>CAA p.P275Q NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 275 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TCTTCCATACCATTCTTTTTC 0.393 NA 19 332 1.56452e-12 1.86695e-12 0.007413 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21350017 21350017 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:21350017G>A uc001req.3 + 8 969 c.865G>A c.(865-867)GAA>AAA p.E289K NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 289 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ACCACAAAAAGAAAGAAAAGC 0.353 NA 12 276 0 0 0.020292 0 0 ETNK1 55500 broad.mit.edu 37 12 22824222 22824222 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:22824222T>C uc001rft.2 + 5 1006 c.984T>C c.(982-984)ATT>ATC p.I328I ETNK1_uc009ziz.2_Silent_p.I328I NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 328 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 TACAGTTCATTGATTATGAAT 0.299 Esophageal Squamous(42;87 913 3224 6226 43339) NA 8 701 0 0 0.006214 0 0 C12orf11 55726 broad.mit.edu 37 12 27066454 27066454 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:27066454C>T uc001rhk.3 - 14 2278 c.1741G>A c.(1741-1743)GAG>AAG p.E581K C12orf11_uc001rhj.3_Missense_Mutation_p.E149K|C12orf11_uc010sjk.1_Missense_Mutation_p.E480K NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 581 Potential. cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GACTTGTCCTCTTTGTCTTCC 0.453 NA 243 679 0 0 0.01441 0 0 C12orf11 55726 broad.mit.edu 37 12 27067485 27067485 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:27067485G>C uc001rhk.3 - 12 1812 c.1275C>G c.(1273-1275)AAC>AAG p.N425K C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Missense_Mutation_p.N324K NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 425 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GAGTTAATCTGTTTTCCCTCA 0.338 NA 12 401 0 0 0.013537 0 0 C12orf11 55726 broad.mit.edu 37 12 27078748 27078748 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:27078748G>A uc001rhk.3 - 6 1158 c.621C>T c.(619-621)ATC>ATT p.I207I C12orf11_uc010sjk.1_Silent_p.I106I NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 207 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) GGTAGGTGTGGATCAAGACCA 0.323 NA 256 551 0 0 0.01441 0 0 FAR2 55711 broad.mit.edu 37 12 29486613 29486613 + Silent SNP C C T rs142204438 by1000genomes TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:29486613C>T uc001ris.3 + 12 1581 c.1434C>T c.(1432-1434)GCC>GCT p.A478A FAR2_uc001rit.2_Silent_p.A478A|FAR2_uc009zjm.2_Silent_p.A381A NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 478 Helical; (Potential). ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TCCTTATCGCCTGGCGCCTTC 0.438 NA 39 178 0 0 0.00623 0 0 FGD4 121512 broad.mit.edu 37 12 32735077 32735077 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:32735077T>C uc001rkz.2 + 4 753 c.276T>C c.(274-276)GGT>GGC p.G92G FGD4_uc001rlc.2_Silent_p.G177G|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Silent_p.G204G|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Silent_p.G92G NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 92 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TGGCCAACGGTGTAATGGCAG 0.488 NA 13 541 0 0 0.003163 0 0 KIF21A 55605 broad.mit.edu 37 12 39701384 39701384 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:39701384C>G uc001rly.2 - 34 4571 c.4425G>C c.(4423-4425)AGG>AGC p.R1475S KIF21A_uc001rlv.2_Missense_Mutation_p.R420S|KIF21A_uc001rlw.2_Missense_Mutation_p.R745S|KIF21A_uc001rlx.2_Missense_Mutation_p.R1462S|KIF21A_uc001rlz.2_Missense_Mutation_p.R1422S|KIF21A_uc010skl.1_Missense_Mutation_p.R1438S|KIF21A_uc001rlt.2_Missense_Mutation_p.R95S|KIF21A_uc001rlu.2_Missense_Mutation_p.R95S NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1475 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) GATCCCACATCCTGACAGCAT 0.398 NA 10 122 0 0 0.006214 0 0 KIF21A 55605 broad.mit.edu 37 12 39716581 39716581 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:39716581G>A uc001rly.2 - 27 3706 c.3560C>T c.(3559-3561)ACA>ATA p.T1187I KIF21A_uc001rlv.2_Missense_Mutation_p.T192I|KIF21A_uc001rlw.2_Missense_Mutation_p.T504I|KIF21A_uc001rlx.2_Missense_Mutation_p.T1174I|KIF21A_uc001rlz.2_Missense_Mutation_p.T1151I|KIF21A_uc010skl.1_Missense_Mutation_p.T1167I NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1187 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TGCAACAGGTGTGAGAGGGCC 0.498 NA 55 337 0 0 0.01441 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43856734 43856734 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:43856734C>T uc010skx.1 - 11 1578 c.1578G>A c.(1576-1578)GTG>GTA p.V526V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 526 Disintegrin. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCTGGTGGCACGTGTTGAG 0.463 NA 4 16 0 0 0.014758 0 0 DBX2 440097 broad.mit.edu 37 12 45410296 45410296 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:45410296G>T uc001rok.1 - 4 965 c.793C>A c.(793-795)CTC>ATC p.L265I NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 265 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GACCGTGAGAGGGGATCCTCT 0.483 NA 49 122 4.86159e-25 6.40586e-25 0.01441 1 0 AMIGO2 347902 broad.mit.edu 37 12 47471976 47471976 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:47471976A>G uc001rpm.2 - 3 1465 c.810T>C c.(808-810)CGT>CGC p.R270R FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.R270R|AMIGO2_uc001rpl.2_Silent_p.R270R NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 270 Extracellular (Potential).|LRRCT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) GAAGTACCTGACGCGAGTGCC 0.493 NA 8 120 0 0 0.00308 0 0 TMEM106C 79022 broad.mit.edu 37 12 48358151 48358151 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:48358151C>T uc001rqp.2 + 2 247 c.132C>T c.(130-132)ACC>ACT p.T44T TMEM106C_uc001rqo.2_Silent_p.T44T|TMEM106C_uc001rqr.2_Silent_p.T44T|TMEM106C_uc001rqq.2_Silent_p.T44T NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 44 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TGGAATTCACCGGGAGAGATA 0.537 NA 18 38 0 0 0.007413 0 0 COL2A1 1280 broad.mit.edu 37 12 48376677 48376677 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:48376677T>C uc001rqu.2 - 33 2328 c.2147A>G c.(2146-2148)CAG>CGG p.Q716R COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.Q647R NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 716 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACGGGGACCCTGGAGGCCCTG 0.627 NA 67 97 0 0 0.01441 0 0 WNT10B 7480 broad.mit.edu 37 12 49362003 49362003 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:49362003C>A uc001rss.2 - 4 783 c.437G>T c.(436-438)TGT>TTT p.C146F WNT10B_uc001rst.2_Missense_Mutation_p.C146F NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 146 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 CTTCCAGCCACAGCCACAGCT 0.597 NA 20 45 5.35047e-06 5.77792e-06 0.01892 1 0 TROAP 10024 broad.mit.edu 37 12 49719372 49719372 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:49719372G>T uc001rtx.3 + 4 593 c.426G>T c.(424-426)GGG>GGT p.G142G TROAP_uc009zlh.2_Silent_p.G142G|TROAP_uc001rty.2_5'Flank NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 142 cell adhesion cytoplasm ovary(1) 1 GTCACCTGGGGCGCCAGCCTA 0.582 NA 21 92 1.96292e-10 2.26313e-10 0.010504 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54925558 54925558 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:54925558C>G uc001sgc.3 + 25 2809 c.2730C>G c.(2728-2730)ATC>ATG p.I910M NCKAP1L_uc010sox.1_Missense_Mutation_p.I452M|NCKAP1L_uc010soy.1_Missense_Mutation_p.I860M NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 910 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GCATGACCATCATTGGGGTTA 0.488 NA 31 90 0 0 0.015359 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140237 69140237 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:69140237G>T uc001suh.2 + 1 302 c.80G>T c.(79-81)TGC>TTC p.C27F NM_018656 NP_061126 Q7Z769 S35E3_HUMAN solute carrier family 35, member E2 27 Helical; (Potential). integral to membrane 0 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) GTGTCCATCTGCATTGTGTTC 0.592 NA 25 56 3.28513e-13 3.95021e-13 0.021523 1 0 KCNC2 3747 broad.mit.edu 37 12 75444633 75444633 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:75444633C>A uc001sxg.1 - 3 1696 c.1152G>T c.(1150-1152)CTG>CTT p.L384L KCNC2_uc009zry.2_Silent_p.L384L|KCNC2_uc001sxe.2_Silent_p.L384L|KCNC2_uc001sxf.2_Silent_p.L384L|KCNC2_uc010stw.1_Silent_p.L384L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 384 Helical; Name=Segment S5; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AAATTATCAGCAGCAAAAATT 0.453 NA 18 73 2.5808e-16 3.20657e-16 0.006122 1 0 OSBPL8 114882 broad.mit.edu 37 12 76786490 76786490 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:76786490G>A uc001sye.1 - 10 1280 c.800C>T c.(799-801)TCT>TTT p.S267F OSBPL8_uc001syf.1_Missense_Mutation_p.S225F|OSBPL8_uc001syg.1_Missense_Mutation_p.S225F|OSBPL8_uc001syh.1_Missense_Mutation_p.S242F NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 267 lipid transport lipid binding ovary(1) 1 AAGAAGACTAGAACATTTCAA 0.383 NA 15 66 0 0 0.003163 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373677 86373677 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:86373677A>G uc001tai.3 - 8 2077 c.827T>C c.(826-828)TTA>TCA p.L276S MGAT4C_uc001tal.3_Missense_Mutation_p.L276S|MGAT4C_uc001taj.3_Missense_Mutation_p.L276S|MGAT4C_uc001tak.3_Missense_Mutation_p.L276S|MGAT4C_uc010sum.1_Missense_Mutation_p.L300S|MGAT4C_uc001tah.3_Missense_Mutation_p.L276S NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 276 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 AAACATTAATAAAAAATGGGC 0.383 NA 24 51 0 0 0.016522 0 0 SLC5A8 160728 broad.mit.edu 37 12 101576622 101576622 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:101576622G>A uc001thz.3 - 9 1514 c.1124C>T c.(1123-1125)TCG>TTG p.S375L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 375 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 TTCTGAGAGCGATCTGAAGTA 0.368 GBM(60;420 1056 13605 22380 47675) NA 14 64 0 0 0.004007 0 0 STAB2 55576 broad.mit.edu 37 12 104098343 104098343 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:104098343G>A uc001tjw.2 + 36 4037 c.3851G>A c.(3850-3852)TGT>TAT p.C1284Y NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1284 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AAGGGAAGATGTAGGACATGC 0.373 NA 18 37 0 0 0.00499 0 0 KIAA1033 23325 broad.mit.edu 37 12 105538144 105538144 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:105538144G>T uc001tld.2 + 21 2177 c.2090G>T c.(2089-2091)CGA>CTA p.R697L KIAA1033_uc010swr.1_Missense_Mutation_p.R698L|KIAA1033_uc010sws.1_Missense_Mutation_p.R509L NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 697 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 CTGGATGACCGAAACCCTTTC 0.373 NA 31 99 3.11337e-16 3.85606e-16 0.013726 1 0 CRY1 1407 broad.mit.edu 37 12 107393851 107393851 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:107393851C>T uc001tmi.3 - 6 1553 c.694G>A c.(694-696)GCA>ACA p.A232T NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 232 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 TCAAAATTTGCCACCCAAGCC 0.348 NA 4 82 0 0 0.009096 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686656 108686656 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:108686656C>T uc009zuw.2 - 3 275 c.84G>A c.(82-84)TTG>TTA p.L28L CMKLR1_uc001tmw.2_Silent_p.L28L|CMKLR1_uc001tmv.2_Silent_p.L26L|CMKLR1_uc009zuv.2_Silent_p.L28L NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 28 Extracellular (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 ATAAGTCCTCCAAAACCACAA 0.493 NA 30 49 0 0 0.007291 0 0 ACACB 32 broad.mit.edu 37 12 109647064 109647064 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:109647064G>A uc001tob.2 + 21 3274 c.3155G>A c.(3154-3156)CGC>CAC p.R1052H ACACB_uc001toc.2_Missense_Mutation_p.R1052H NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1052 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GTGGCAGGCCGCATCCCCGCC 0.637 NA 3 13 0 0 0.004672 0 0 HVCN1 84329 broad.mit.edu 37 12 111099066 111099066 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:111099066G>A uc001trs.1 - 4 374 c.209C>T c.(208-210)GCA>GTA p.A70V HVCN1_uc001trq.1_Missense_Mutation_p.A70V|HVCN1_uc001trt.1_Missense_Mutation_p.A70V|HVCN1_uc010syd.1_Missense_Mutation_p.A50V NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 70 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 GTCAGGGGCTGCAGCTCTGCC 0.517 NA 10 50 0 0 0.016723 0 0 DHX37 57647 broad.mit.edu 37 12 125435313 125435313 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:125435313C>A uc001ugy.2 - 22 3005 c.2906G>T c.(2905-2907)AGC>ATC p.S969I DHX37_uc001ugz.1_Missense_Mutation_p.S56I NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 969 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AAGGACGGAGCTGGGGTGGAT 0.567 NA 158 120 1.08359e-82 1.55592e-82 0.01441 1 0 ANKLE2 23141 broad.mit.edu 37 12 133331681 133331681 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:133331681G>C uc001ukx.2 - 2 287 c.220C>G c.(220-222)CTT>GTT p.L74V ANKLE2_uc001uky.3_Missense_Mutation_p.L12V NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 74 LEM. cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGATTCAGAAGTTTCAATCGA 0.403 NA 32 133 0 0 0.009535 0 0 FRY 10129 broad.mit.edu 37 13 32776615 32776615 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:32776615A>T uc001utx.2 + 31 4465 c.3969A>T c.(3967-3969)TCA>TCT p.S1323S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1323 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCTCTTGTCATGTGAGCTGG 0.493 NA 88 66 0 0 0.01441 0 0 DCLK1 9201 broad.mit.edu 37 13 36700141 36700141 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:36700141C>A uc001uvf.2 - 2 367 c.134G>T c.(133-135)CGC>CTC p.R45L NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 45 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTGCAGCGTGCGGGTGCGGTA 0.592 NA 65 54 1.26778e-28 1.69614e-28 0.01441 1 0 SPG20 23111 broad.mit.edu 37 13 36909952 36909952 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:36909952G>C uc001uvn.2 - 3 286 c.16C>G c.(16-18)CAA>GAA p.Q6E SPG20_uc010ten.1_Missense_Mutation_p.Q6E|SPG20_uc001uvm.2_Missense_Mutation_p.Q6E|SPG20_uc001uvo.2_Missense_Mutation_p.Q6E|SPG20_uc001uvq.2_Missense_Mutation_p.Q6E|SPG20_uc001uvp.2_Missense_Mutation_p.Q6E NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 6 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TCTCCATTTTGTGGCTCTTGC 0.234 NA 51 58 0 0 0.01441 0 0 TRPC4 7223 broad.mit.edu 37 13 38266459 38266459 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:38266459G>T uc001uws.2 - 4 1146 c.911C>A c.(910-912)CCC>CAC p.P304H TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.P304H|TRPC4_uc010tey.1_Missense_Mutation_p.P304H|TRPC4_uc010abw.2_Missense_Mutation_p.P131H|TRPC4_uc010abx.2_Missense_Mutation_p.P304H|TRPC4_uc010aby.2_Missense_Mutation_p.P304H NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 304 Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGACAATTGGGCTGGGCAAC 0.438 NA 28 22 1.12875e-08 1.27697e-08 0.00632 1 0 AKAP11 11215 broad.mit.edu 37 13 42876762 42876762 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:42876762G>C uc001uys.1 + 8 4055 c.3880G>C c.(3880-3882)GGT>CGT p.G1294R NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1294 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTATGCTGATGGTGACGAAGA 0.398 NA 7 80 0 0 0.00308 0 0 EDNRB 1910 broad.mit.edu 37 13 78492316 78492316 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:78492316G>C uc001vko.2 - 1 651 c.393C>G c.(391-393)TGC>TGG p.C131W uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.C131W|EDNRB_uc010aez.1_Missense_Mutation_p.C131W|EDNRB_uc001vkp.1_Missense_Mutation_p.C214W|EDNRB_uc010afa.1_Missense_Mutation_p.C131W NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 131 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CGTTTCGCATGCACTTGTTCT 0.483 NA 75 61 0 0 0.01441 0 0 SLC10A2 6555 broad.mit.edu 37 13 103703714 103703714 + Missense_Mutation SNP G G T rs140050923 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr13:103703714G>T uc001vpy.3 - 4 1251 c.654C>A c.(652-654)AGC>AGA p.S218R NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 218 Cytoplasmic (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGATCCAGGCGCTTTGGTACA 0.478 NA 61 63 7.55815e-43 1.04878e-42 0.01441 1 0 OR4K2 390431 broad.mit.edu 37 14 20345048 20345048 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:20345048T>A uc001vwh.1 + 1 622 c.622T>A c.(622-624)TTG>ATG p.L208M NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATAATTGCGTTGTCCTGTTT 0.398 NA 115 514 0 0 0.01441 0 0 TEP1 7011 broad.mit.edu 37 14 20859894 20859894 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:20859894C>G uc001vxe.2 - 13 2001 c.1961G>C c.(1960-1962)AGG>ACG p.R654T TEP1_uc010ahk.2_Missense_Mutation_p.R4T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R546T NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 654 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTGTCGGTACCTGTTCAGCAT 0.542 NA 45 198 0 0 0.013114 0 0 JUB 84962 broad.mit.edu 37 14 23445718 23445718 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:23445718A>T uc001whz.2 - 4 1562 c.1186T>A c.(1186-1188)TTT>ATT p.F396I JUB_uc001why.2_5'UTR NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 396 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) GCCTCCTGAAACCCTGAAAAC 0.468 Esophageal Squamous(134;328 1721 9795 37986 41605) NA 37 214 0 0 0.019004 0 0 MYH6 4624 broad.mit.edu 37 14 23851669 23851669 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:23851669G>T uc001wjv.2 - 38 5831 c.5764C>A c.(5764-5766)CTT>ATT p.L1922I NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1922 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTGGCTCGAAGCTTGTTGACC 0.592 NA 33 134 2.61193e-14 3.165e-14 0.009535 1 0 MYH7 4625 broad.mit.edu 37 14 23884664 23884664 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:23884664G>C uc001wjx.2 - 36 5315 c.5209C>G c.(5209-5211)CTC>GTC p.L1737V NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1737 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCAGTCTGGAGCTGGGACAGG 0.562 NA 5 168 0 0 0.014758 0 0 BAZ1A 11177 broad.mit.edu 37 14 35243536 35243536 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:35243536G>C uc001wsk.2 - 19 3562 c.2994C>G c.(2992-2994)ATC>ATG p.I998M BAZ1A_uc001wsl.2_Missense_Mutation_p.I966M NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 998 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TACAAACCTTGATGGCTCCTA 0.348 NA 4 72 0 0 0.014758 0 0 PRPF39 55015 broad.mit.edu 37 14 45571881 45571881 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:45571881A>G uc001wvz.3 + 5 889 c.719A>G c.(718-720)TAT>TGT p.Y240C PRPF39_uc001wvy.3_Missense_Mutation_p.Y119C|PRPF39_uc010and.2_Missense_Mutation_p.Y30C NM_017922 NP_060392 Q86UA1 PRP39_HUMAN PRP39 pre-mRNA processing factor 39 homolog 240 HAT 4. mRNA processing|RNA splicing nucleus binding ovary(1)|breast(1) 2 ACACAGCTGTATAGTCATCAT 0.338 NA 87 200 0 0 0.01441 0 0 FKBP3 2287 broad.mit.edu 37 14 45603642 45603642 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:45603642T>A uc010tqf.1 - 1 91 c.18A>T c.(16-18)CCA>CCT p.P6P FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 6 protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 ACGCCCGCTGTGGAACGGCCG 0.667 NA 17 26 0 0 0.010818 0 0 OTX2 5015 broad.mit.edu 37 14 57268677 57268677 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:57268677C>T uc001xcp.2 - 3 817 c.646G>A c.(646-648)GGG>AGG p.G216R OTX2_uc010aou.2_Missense_Mutation_p.G216R|OTX2_uc001xcq.2_Missense_Mutation_p.G224R NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 216 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) AGTGTGGCCCCTGGTCCGGGA 0.527 NA 26 113 0 0 0.005443 0 0 SLC35F4 341880 broad.mit.edu 37 14 58031051 58031051 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:58031051G>T uc001xdb.1 - 8 1368 c.1368C>A c.(1366-1368)CGC>CGA p.R456R SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.R297R NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TAGCAGCCAGGCGGACAACAT 0.448 NA 3 20 8.12818e-05 8.62313e-05 0.001984 1 0 PPP2R5E 5529 broad.mit.edu 37 14 63888812 63888812 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:63888812C>G uc001xgd.1 - 4 945 c.355G>C c.(355-357)GTA>CTA p.V119L PPP2R5E_uc010tsf.1_Missense_Mutation_p.V43L|PPP2R5E_uc010tsg.1_Missense_Mutation_p.V43L|PPP2R5E_uc001xge.2_Missense_Mutation_p.V119L|PPP2R5E_uc010tsh.1_Missense_Mutation_p.V119L|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 119 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) TTGCAAGATACCTAAAAATAA 0.448 NA 7 82 0 0 0.001984 0 0 SPTB 6710 broad.mit.edu 37 14 65246605 65246605 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:65246605C>G uc001xht.2 - 20 4365 c.4311G>C c.(4309-4311)GAG>GAC p.E1437D SPTB_uc001xhr.2_Missense_Mutation_p.E1437D|SPTB_uc001xhs.2_Missense_Mutation_p.E1437D|SPTB_uc001xhu.2_Missense_Mutation_p.E1437D|SPTB_uc010aqi.2_Missense_Mutation_p.E98D NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1437 Spectrin 11. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGGCAAACAGCTCCCCCAGCT 0.537 NA 54 280 0 0 0.01441 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197442 71197442 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:71197442C>A uc001xmm.2 - 12 2970 c.2970G>T c.(2968-2970)GAG>GAT p.E990D MAP3K9_uc010ttk.1_Missense_Mutation_p.E718D|MAP3K9_uc001xmk.2_Missense_Mutation_p.E723D|MAP3K9_uc001xml.2_Missense_Mutation_p.E1004D NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 990 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GAGGCAGAAACTCCAGAGTCT 0.627 GBM(114;411 1587 13539 28235 50070) NA 44 78 1.0331e-37 1.42096e-37 0.01441 1 0 NUMB 8650 broad.mit.edu 37 14 73743882 73743882 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:73743882G>A uc001xny.1 - 13 1680 c.1360C>T c.(1360-1362)CAG>TAG p.Q454* NUMB_uc010aro.1_Nonsense_Mutation_p.Q259*|NUMB_uc010arp.1_Nonsense_Mutation_p.Q248*|NUMB_uc010arq.1_Nonsense_Mutation_p.Q308*|NUMB_uc010arr.1_Nonsense_Mutation_p.Q297*|NUMB_uc001xoa.1_Nonsense_Mutation_p.Q406*|NUMB_uc001xnz.1_Nonsense_Mutation_p.Q443*|NUMB_uc001xob.1_Nonsense_Mutation_p.Q395*|NUMB_uc001xod.1_Nonsense_Mutation_p.Q406*|NUMB_uc001xoc.1_Nonsense_Mutation_p.Q454*|NUMB_uc010ars.1_Nonsense_Mutation_p.Q443*|NUMB_uc010ttz.1_Nonsense_Mutation_p.Q152*|NUMB_uc001xoe.2_RNA NM_001005743 NP_001005743 P49757 NUMB_HUMAN numb homolog isoform 1 454 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane ovary(2)|central_nervous_system(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) TGGGGCTGCTGAGCCCGGACG 0.602 NA 16 53 0 0 0.003163 0 0 C14orf169 79697 broad.mit.edu 37 14 73959323 73959323 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:73959323A>T uc001xok.1 + 3 1681 c.1602A>T c.(1600-1602)GAA>GAT p.E534D HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 534 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) AGGCTGGAGAACCTGTAAACG 0.527 NA 14 62 0 0 0.020292 0 0 LTBP2 4053 broad.mit.edu 37 14 74975375 74975375 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:74975375C>T uc001xqa.2 - 24 3971 c.3584G>A c.(3583-3585)AGC>AAC p.S1195N NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1195 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGACCCGTGGCTGTTGAGGCA 0.632 NA 19 62 0 0 0.014323 0 0 NRXN3 9369 broad.mit.edu 37 14 79434538 79434538 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:79434538G>T uc001xun.2 + 11 2363 c.1872G>T c.(1870-1872)CTG>CTT p.L624L NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L749L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 997 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGCTGGTCTGGCCCAAGGCA 0.488 NA 42 62 4.0306e-16 4.96854e-16 0.01441 1 0 NRXN3 9369 broad.mit.edu 37 14 80328143 80328143 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:80328143T>C uc001xun.2 + 17 3513 c.3022T>C c.(3022-3024)TAC>CAC p.Y1008H NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.Y584H|NRXN3_uc010asw.2_Missense_Mutation_p.Y406H|NRXN3_uc001xur.3_Missense_Mutation_p.Y379H NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1590 Cytoplasmic (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTACGCCATGTACAAGTACAG 0.587 NA 18 57 0 0 0.00499 0 0 PTPN21 11099 broad.mit.edu 37 14 89016693 89016693 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:89016693C>A uc001xwv.3 - 2 400 c.69G>T c.(67-69)CTG>CTT p.L23L PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Silent_p.L23L NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 23 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TCCGGGCAACCAGGCAACTCT 0.557 NA 46 138 5.2432e-18 6.61944e-18 0.01441 1 0 CLMN 79789 broad.mit.edu 37 14 95677189 95677189 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:95677189C>G uc001yef.2 - 7 752 c.636G>C c.(634-636)GCG>GCC p.A212A NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 212 Actin-binding.|CH 2. integral to membrane actin binding 0 Epithelial(152;0.193) TCCAACTGCCCGCAAAGTCCT 0.562 NA 19 193 0 0 0.008361 0 0 ATG2B 55102 broad.mit.edu 37 14 96777950 96777950 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:96777950C>A uc001yfi.2 - 27 4284 c.3919G>T c.(3919-3921)GTT>TTT p.V1307F NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1307 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATCACACGAACATAATCTAAA 0.313 NA 20 71 1.28384e-07 1.42973e-07 0.012319 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103412024 103412024 + Silent SNP G G C rs141924737 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:103412024G>C uc001ymi.1 - 29 4018 c.3786C>G c.(3784-3786)CTC>CTG p.L1262L CDC42BPB_uc001ymj.1_Silent_p.L364L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1262 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTATGACATAGAGCCCTTCTT 0.473 NA 12 67 0 0 0.013537 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104251168 104251168 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:104251168G>A uc001yof.1 - 3 524 c.241C>T c.(241-243)CGA>TGA p.R81* PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 81 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TCCTCGTGTCGAAGGAAAAAT 0.393 NA 23 82 0 0 0.014323 0 0 ADAM6 8755 broad.mit.edu 37 14 107122205 107122205 + Splice_Site SNP C C G rs113057405 by1000genomes TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr14:107122205C>G uc010tyt.1 - 75 c.3728_splice c.e75+1 Parts of antibodies, mostly variable regions. 0 TTCACAGACGCGGCGTATTCT 0.488 NA 31 51 0 0 0.007291 0 0 CYFIP1 23191 broad.mit.edu 37 15 23000107 23000107 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:23000107G>C uc001yus.2 + 30 3565 c.3461G>C c.(3460-3462)GGT>GCT p.G1154A CYFIP1_uc001yut.2_Missense_Mutation_p.G1154A|CYFIP1_uc001yuu.2_Missense_Mutation_p.G723A|CYFIP1_uc001yuv.2_Missense_Mutation_p.G348A NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 1154 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CAGTGCTTTGGTGATGGGCTA 0.483 NA 21 78 0 0 0.01892 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889431 23889431 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:23889431A>T uc001ywj.3 - 1 1745 c.1650T>A c.(1648-1650)ACT>ACA p.T550T NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGAGCTTCTTAGTATTTCCAA 0.473 NA 4 65 0 0 0.009096 0 0 C15orf2 23742 broad.mit.edu 37 15 24921525 24921525 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:24921525G>C uc001ywo.2 + 1 985 c.511G>C c.(511-513)GGG>CGG p.G171R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 171 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCAGATCGAAGGGGAGGATGA 0.612 NA 17 87 0 0 0.007413 0 0 GABRB3 2562 broad.mit.edu 37 15 26806314 26806314 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:26806314G>T uc001zaz.2 - 8 987 c.845C>A c.(844-846)ACT>AAT p.T282N GABRB3_uc010uae.1_Missense_Mutation_p.T197N|GABRB3_uc001zba.2_Missense_Mutation_p.T282N|GABRB3_uc001zbb.2_Missense_Mutation_p.T338N NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 282 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGTCAGCACAGTTGTGATCCC 0.438 NA 32 104 1.99505e-19 2.55994e-19 0.012213 1 0 OCA2 4948 broad.mit.edu 37 15 28116363 28116363 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:28116363C>G uc001zbh.3 - 21 2291 c.2181G>C c.(2179-2181)CTG>CTC p.L727L OCA2_uc010ayv.2_Silent_p.L703L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 727 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCCACACCACCAGGACAATGG 0.562 NA Oculocutaneous_Albinism 5 91 0 0 0.001984 0 0 OTUD7A 161725 broad.mit.edu 37 15 31862303 31862303 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:31862303A>G uc001zfq.2 - 2 342 c.249T>C c.(247-249)GGT>GGC p.G83G OTUD7A_uc001zfr.2_Silent_p.G83G|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.G83G NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 83 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCTGCTTGGGACCCCGCCCTT 0.622 NA 12 94 0 0 0.00499 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928496 32928496 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:32928496A>G uc001zgy.1 + 12 2244 c.1522A>G c.(1522-1524)ACT>GCT p.T508A ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T319A|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T319A NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 508 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) AACCTTACTAACTCCAGAGCG 0.358 Colon(45;757 1134 30003 36652) NA 16 86 0 0 0.006122 0 0 RYR3 6263 broad.mit.edu 37 15 33955875 33955875 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:33955875G>A uc001zhi.2 + 36 5626 c.5556G>A c.(5554-5556)CTG>CTA p.L1852L RYR3_uc010bar.2_Silent_p.L1852L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1852 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCAGGCCCTGAACATGTCTG 0.567 NA 5 35 0 0 0.001168 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434278 42434278 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:42434278G>A uc001zoz.2 - 20 2517 c.2454C>T c.(2452-2454)CTC>CTT p.L818L PLA2G4F_uc010bcq.2_Silent_p.L115L|PLA2G4F_uc001zoy.2_Silent_p.L450L|PLA2G4F_uc010bcr.2_Silent_p.L569L|PLA2G4F_uc001zpa.2_Silent_p.L569L|PLA2G4F_uc010bcs.2_Silent_p.L605L NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 818 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) TGTATCGACTGAGGGCCACCA 0.587 NA 11 70 0 0 0.008291 0 0 UBR1 197131 broad.mit.edu 37 15 43258422 43258422 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:43258422G>A uc001zqq.2 - 41 4586 c.4520C>T c.(4519-4521)CCT>CTT p.P1507L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1507 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GCGAAGATAAGGGGTGATGCC 0.433 NA 6 94 0 0 0.001168 0 0 UNC13C 440279 broad.mit.edu 37 15 54305855 54305855 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:54305855G>T uc002ack.2 + 1 755 c.755G>T c.(754-756)GGA>GTA p.G252V NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 252 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAACTTCAGGGAATAAGTCAG 0.463 NA 30 95 2.4375e-19 3.11238e-19 0.007291 1 0 UNC13C 440279 broad.mit.edu 37 15 54306827 54306827 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:54306827G>T uc002ack.2 + 1 1727 c.1727G>T c.(1726-1728)AGC>ATC p.S576I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 576 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACTAATGGAAGCTCTCTCCTG 0.433 NA 12 51 9.05144e-12 1.06872e-11 0.016723 1 0 UNC13C 440279 broad.mit.edu 37 15 54307661 54307661 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:54307661C>A uc002ack.2 + 1 2561 c.2561C>A c.(2560-2562)ACG>AAG p.T854K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 854 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GATGTCTACACGGAGCCCTAT 0.423 NA 28 55 2.4375e-19 3.11238e-19 0.007291 1 0 TCF12 6938 broad.mit.edu 37 15 57525012 57525012 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:57525012G>A uc002aec.2 + 11 1212 c.928G>A c.(928-930)GCC>ACC p.A310T TCF12_uc010ugm.1_Missense_Mutation_p.A362T|TCF12_uc010ugn.1_Missense_Mutation_p.A306T|TCF12_uc002aea.2_Missense_Mutation_p.A310T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.A310T|TCF12_uc002aed.2_Missense_Mutation_p.A310T|TCF12_uc002aee.2_Missense_Mutation_p.A140T|TCF12_uc010bft.2_Missense_Mutation_p.A140T|TCF12_uc010ugo.1_Missense_Mutation_p.A74T NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 310 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TTACGTTGCTGCCTCACACAC 0.473 NA T TEC extraskeletal myxoid chondrosarcoma 35 62 0 0 0.021022 0 0 AQP9 366 broad.mit.edu 37 15 58458996 58458996 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:58458996C>T uc002aez.2 + 2 593 c.236C>T c.(235-237)TCT>TTT p.S79F ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.S14F NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 79 Cytoplasmic (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) GGCGGTGTCTCTGGTAAGCAG 0.269 NA 18 193 0 0 0.00499 0 0 LIPC 3990 broad.mit.edu 37 15 58830684 58830684 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:58830684C>A uc010bga.1 + 4 849 c.241C>A c.(241-243)CTG>ATG p.L81M LIPC_uc010bfz.1_Missense_Mutation_p.L81M|LIPC_uc002afa.1_Missense_Mutation_p.L81M|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.1_Missense_Mutation_p.L81M NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 81 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CAACTCCTCCCTGCCTCTGGT 0.473 NA 65 200 1.40369e-38 1.93748e-38 0.01441 1 0 FAM96A 84191 broad.mit.edu 37 15 64380925 64380925 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:64380925T>A uc002amt.1 - 2 490 c.250A>T c.(250-252)ACG>TCG p.T84S FAM96A_uc002amu.1_Missense_Mutation_p.T84S|FAM96A_uc010uin.1_Missense_Mutation_p.T84S NM_032231 NP_115607 Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 84 chromosome segregation 0 ACTGTTGGCGTGAACCTGATA 0.348 NA 15 46 0 0 0.003163 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157686 65157686 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:65157686G>T uc002anv.2 + 6 1206 c.1072G>T c.(1072-1074)GCT>TCT p.A358S PLEKHO2_uc010bgz.2_Missense_Mutation_p.A34S|PLEKHO2_uc002anw.2_Missense_Mutation_p.A308S NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 358 Pro-rich. ovary(1)|lung(1) 2 GCCCTCTCAGGCTGAGGGCAC 0.617 NA 31 76 9.78306e-22 1.26985e-21 0.009535 1 0 NEO1 4756 broad.mit.edu 37 15 73528761 73528761 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:73528761C>G uc002avm.3 + 8 1507 c.1365C>G c.(1363-1365)ATC>ATG p.I455M NEO1_uc010ukx.1_Missense_Mutation_p.I455M|NEO1_uc010uky.1_Missense_Mutation_p.I455M|NEO1_uc010ukz.1_Translation_Start_Site|NEO1_uc002avn.3_Missense_Mutation_p.I120M NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 455 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CCCGCTTCATCAAATTGACGT 0.552 NA 55 186 0 0 0.01441 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014042 75014042 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:75014042A>T uc002ayp.3 - 3 964 c.842T>A c.(841-843)ATC>AAC p.I281N CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.I17N|CYP1A1_uc010bjx.2_Missense_Mutation_p.I17N|CYP1A1_uc002ayq.3_Missense_Mutation_p.I281N|CYP1A1_uc010bjy.2_Missense_Mutation_p.I281N|CYP1A1_uc010bjz.1_Missense_Mutation_p.I17N NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 281 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GCTGTCTGTGATGTCCCGGAT 0.512 NA Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 25 118 0 0 0.004656 0 0 C15orf26 161502 broad.mit.edu 37 15 81428997 81428997 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:81428997G>A uc002bgb.2 + 3 327 c.300G>A c.(298-300)CAG>CAA p.Q100Q C15orf26_uc010blp.1_Silent_p.Q75Q NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 100 0 ATGAAATTCAGTCCCATCTGA 0.468 NA 26 110 0 0 0.005443 0 0 IL16 3603 broad.mit.edu 37 15 81591951 81591951 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:81591951G>A uc002bgh.3 + 14 2660 c.2284G>A c.(2284-2286)GAC>AAC p.D762N IL16_uc010blq.1_Missense_Mutation_p.D716N|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.D804N|IL16_uc002bgg.2_Missense_Mutation_p.D762N|IL16_uc002bgi.1_Missense_Mutation_p.D152N|IL16_uc002bgj.2_Missense_Mutation_p.D256N|IL16_uc002bgk.2_Missense_Mutation_p.D61N|IL16_uc002bgl.1_Missense_Mutation_p.D61N|IL16_uc010unq.1_Missense_Mutation_p.D61N NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 762 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 ACCAAAGCTGGACACCGCCAA 0.562 NA 18 98 0 0 0.007413 0 0 EFTUD1 79631 broad.mit.edu 37 15 82533698 82533698 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:82533698C>A uc002bgt.1 - 5 460 c.291G>T c.(289-291)GTG>GTT p.V97V EFTUD1_uc002bgu.1_Silent_p.V46V NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 97 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 AGGAAAAGTCCACGTGTCCTG 0.423 NA 14 55 4.3838e-07 4.8407e-07 0.016723 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611402 84611402 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:84611402G>T uc002bjz.3 + 18 2396 c.2172G>T c.(2170-2172)CAG>CAT p.Q724H ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q724H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q724H NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 724 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGGAATTCAGACCCGAGATG 0.532 NA 33 120 1.26612e-14 1.54376e-14 0.015359 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683293 84683294 + Splice_Site DNP GG GG TT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:84683293_84683294GG>TT uc002bjz.3 + 24 4198 c.3974_splice c.e24-1 p.G1325_splice ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice|ADAMTSL3_uc010bmu.1_Splice_Site_p.G1325_splice NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGTTCCAAAGGTGTCCCTCAG 0.416 NA 32 138 0 0 0.004672 0 0 NTRK3 4916 broad.mit.edu 37 15 88678465 88678465 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:88678465C>A uc002bme.1 - 9 1233 c.1071G>T c.(1069-1071)GAG>GAT p.E357D NTRK3_uc002bmh.2_Missense_Mutation_p.E357D|NTRK3_uc002bmf.1_Missense_Mutation_p.E357D|NTRK3_uc010upl.1_Missense_Mutation_p.E259D|NTRK3_uc010bnh.1_Missense_Mutation_p.E357D|NTRK3_uc002bmg.2_Missense_Mutation_p.E357D NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 357 Ig-like C2-type 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTCGGAAATCTCTCCCTCTT 0.562 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 26 135 7.76418e-22 1.00947e-21 0.005443 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424754 89424754 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:89424754G>C uc002bnc.2 - 3 455 c.327C>G c.(325-327)CAC>CAG p.H109Q HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.H171Q NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 109 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) CAAAGGAGCGGTGCCTCAGCC 0.657 NA 25 96 0 0 0.01892 0 0 PEX11A 8800 broad.mit.edu 37 15 90226986 90226986 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr15:90226986C>G uc002boi.2 - 3 461 c.366G>C c.(364-366)AGG>AGC p.R122S PEX11A_uc010upy.1_RNA NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 122 Lumenal (Potential). cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) GGTGAGCAGCCCTCGTTCGCC 0.493 NA 21 178 0 0 0.008871 0 0 Unknown 0 broad.mit.edu 37 16 66989 66989 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:66989A>C uc002cfg.1 - 5 1306 c.647T>G c.(646-648)CTG>CGG p.L216R NM_182905 NP_878908 WAS protein family homolog 1 NA CTCTGCCCCCAGCATCACATG 0.582 NA 9 29 0 0 0.006214 0 0 MSLNL 401827 broad.mit.edu 37 16 819450 819450 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:819450A>C uc002cjz.1 - 16 3140 c.3140T>G c.(3139-3141)CTT>CGT p.L1047R MIR662_hsa-mir-662|MI0003670_5'Flank NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 696 Cytoplasmic (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CGTCAGCCCAAGTGGGCGTCC 0.627 NA 17 91 0 0 0.00499 0 0 SSTR5 6755 broad.mit.edu 37 16 1129358 1129358 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:1129358T>A uc002ckq.2 + 1 578 c.490T>A c.(490-492)TGG>AGG p.W164R LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 164 Helical; Name=4; (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCCGCGGCCTGGGTCCTGTC 0.721 NA 3 9 0 0 0.006214 0 0 MKL2 57496 broad.mit.edu 37 16 14340513 14340513 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:14340513C>T uc010uza.1 + 12 1551 c.1396C>T c.(1396-1398)CCG>TCG p.P466S MKL2_uc002dcg.2_Missense_Mutation_p.P466S|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 455 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 TGTGGCCTTGCCGGTTACAAC 0.532 NA 4 193 0 0 0.009096 0 0 MYH11 4629 broad.mit.edu 37 16 15917231 15917231 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:15917231T>C uc002ddy.2 - 3 490 c.383A>G c.(382-384)TAT>TGT p.Y128C MYH11_uc002ddv.2_Missense_Mutation_p.Y128C|MYH11_uc002ddw.2_Missense_Mutation_p.Y128C|MYH11_uc002ddx.2_Missense_Mutation_p.Y128C|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.Y128C NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 128 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CAGGTGTTTATAGGGGTTGAC 0.557 NA T CBFB AML 75 158 0 0 0.01441 0 0 PDILT 204474 broad.mit.edu 37 16 20410590 20410590 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:20410590C>T uc002dhc.1 - 2 256 c.33G>A c.(31-33)GTG>GTA p.V11V NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 11 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CACAAGCGGCCACCAGCAGCA 0.587 NA 37 175 0 0 0.009718 0 0 ACSM1 116285 broad.mit.edu 37 16 20636757 20636757 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:20636757C>A uc002dhm.1 - 11 1583 c.1515G>T c.(1513-1515)CCG>CCT p.P505P ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.P505P NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 505 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 CCCCTCGAATCGGGTCTGGGC 0.602 NA 25 52 1.12875e-08 1.27697e-08 0.00632 1 0 OTOA 146183 broad.mit.edu 37 16 21739597 21739597 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:21739597C>T uc002djh.2 + 19 2053 c.2052C>T c.(2050-2052)ATC>ATT p.I684I uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.I605I|OTOA_uc002dji.2_Silent_p.I360I|OTOA_uc010vbk.1_Silent_p.I332I NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 698 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CTGTGGACATCATGGGGAACC 0.557 NA 57 135 0 0 0.01441 0 0 IL21R 50615 broad.mit.edu 37 16 27456538 27456538 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:27456538C>G uc002doq.1 + 7 959 c.726C>G c.(724-726)CTC>CTG p.L242L IL21R_uc002dor.1_Silent_p.L242L|IL21R_uc002dos.1_Silent_p.L242L NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 242 Helical; (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TGCTTCTCCTCCTGCTTGTCA 0.542 NA T BCL6 NHL 28 69 0 0 0.007291 0 0 SPN 6693 broad.mit.edu 37 16 29675057 29675057 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:29675057C>T uc002dtm.2 + 2 144 c.8C>T c.(7-9)ACG>ATG p.T3M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.T3M|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 3 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 GAAATGGCCACGCTTCTCCTT 0.632 NA 8 448 0 0 0.004482 0 0 SRCAP 10847 broad.mit.edu 37 16 30721220 30721220 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:30721220C>T uc002dze.1 + 8 1290 c.905C>T c.(904-906)ACG>ATG p.T302M SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.T159M|SRCAP_uc010bzz.1_Translation_Start_Site|SNORA30_uc002dzh.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 302 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GATGAGGAAACGATTGAAGTT 0.532 NA 11 105 0 0 0.010729 0 0 CNOT1 23019 broad.mit.edu 37 16 58580244 58580244 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:58580244G>C uc002env.2 - 29 4280 c.3987C>G c.(3985-3987)CTC>CTG p.L1329L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1324L|CNOT1_uc002enx.2_Silent_p.L1329L|CNOT1_uc010vik.1_Silent_p.L286L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1329 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGATGGGAGGGAGTTCTTCTG 0.413 NA 22 118 0 0 0.01892 0 0 CDH11 1009 broad.mit.edu 37 16 64981591 64981591 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:64981591T>C uc002eoi.2 - 13 2740 c.2306A>G c.(2305-2307)TAT>TGT p.Y769C CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y643C NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 769 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TAGATAATCATAGTCCAAGTC 0.448 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 68 135 0 0 0.01441 0 0 DPEP2 64174 broad.mit.edu 37 16 68026508 68026508 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:68026508C>A uc010cey.2 - 2 459 c.295G>T c.(295-297)GTT>TTT p.V99F DPEP2_uc002evd.3_Missense_Mutation_p.V99F|DPEP2_uc002eve.2_Missense_Mutation_p.V99F|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Intron NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 99 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TTCTGGTAAACCTGCCTTAGG 0.582 NA 41 130 1.48734e-19 1.91473e-19 0.013114 1 0 NFATC3 4775 broad.mit.edu 37 16 68225604 68225604 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:68225604G>A uc002evo.1 + 9 3242 c.3032G>A c.(3031-3033)AGC>AAC p.S1011N NFATC3_uc010vkl.1_Missense_Mutation_p.S532N|NFATC3_uc010vkm.1_Missense_Mutation_p.S532N|NFATC3_uc010vkn.1_Missense_Mutation_p.S532N|NFATC3_uc010vko.1_Missense_Mutation_p.S532N|NFATC3_uc010vkp.1_Missense_Mutation_p.S532N|NFATC3_uc010vkq.1_Missense_Mutation_p.S532N|NFATC3_uc002evl.2_Missense_Mutation_p.S532N|NFATC3_uc002evk.2_Missense_Mutation_p.S1011N|NFATC3_uc002evm.1_Missense_Mutation_p.S1011N|NFATC3_uc002evn.1_Missense_Mutation_p.S1011N|NFATC3_uc010vkr.1_Missense_Mutation_p.S532N|NFATC3_uc010vks.1_Missense_Mutation_p.S532N|NFATC3_uc010vkt.1_Missense_Mutation_p.S532N|NFATC3_uc010vku.1_Missense_Mutation_p.S532N|NFATC3_uc010vkv.1_Missense_Mutation_p.S532N|NFATC3_uc010vkw.1_Missense_Mutation_p.S532N|NFATC3_uc010vkx.1_Missense_Mutation_p.S532N|NFATC3_uc010vky.1_Missense_Mutation_p.S532N|NFATC3_uc010vkz.1_Missense_Mutation_p.S532N|NFATC3_uc010vla.1_Missense_Mutation_p.S532N|NFATC3_uc010vlb.1_Missense_Mutation_p.S532N|NFATC3_uc010vlc.1_Missense_Mutation_p.S532N NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 1011 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GCAACTGTGAGCATTAAACCT 0.463 NA 137 203 0 0 0.01441 0 0 KIAA0174 9798 broad.mit.edu 37 16 71955338 71955338 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:71955338A>T uc002fbj.1 + 8 856 c.573A>T c.(571-573)GAA>GAT p.E191D KIAA0174_uc010cgh.1_Missense_Mutation_p.E191D|KIAA0174_uc002fbk.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbm.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbl.1_Missense_Mutation_p.E178D|KIAA0174_uc002fbn.1_Missense_Mutation_p.E30D|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.E110D|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.E30D P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 178 Interaction with VPS37B. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 TACCCTATGAACCTGACTCTG 0.393 NA 12 83 0 0 0.013537 0 0 ZC3H18 124245 broad.mit.edu 37 16 88653008 88653008 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:88653008G>T uc002fky.2 + 3 804 c.604G>T c.(604-606)GAT>TAT p.D202Y ZC3H18_uc010voy.1_Missense_Mutation_p.D85Y|ZC3H18_uc010voz.1_Missense_Mutation_p.D202Y|ZC3H18_uc010vpa.1_Missense_Mutation_p.D202Y NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 202 Poly-Asp. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) TCTGTTTCAGGATGATGACCT 0.537 Ovarian(121;375 2276 20373 38669) NA 23 76 2.32416e-17 2.91077e-17 0.014323 1 0 ATP2A3 489 broad.mit.edu 37 17 3844532 3844532 + Missense_Mutation SNP G G C rs140617781 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:3844532G>C uc002fxb.1 - 14 1984 c.1833C>G c.(1831-1833)ATC>ATG p.I611M ATP2A3_uc002fwx.1_Missense_Mutation_p.I611M|ATP2A3_uc002fwy.1_Missense_Mutation_p.I611M|ATP2A3_uc002fwz.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxa.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxc.1_Missense_Mutation_p.I611M|ATP2A3_uc002fxd.1_Missense_Mutation_p.I611M NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 611 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) AGCAGCGTGTGATGCAGGCAG 0.647 GBM(32;29 774 15719 37967) NA 3 107 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7577551 7577551 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:7577551C>A uc002gim.2 - 7 924 c.730G>T c.(730-732)GGC>TGC p.G244C TP53_uc002gig.1_Missense_Mutation_p.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 244 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and 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.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(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) TTCATGCCGCCCATGCAGGAA 0.582 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) 27 21 4.15321e-07 4.59904e-07 0.009535 1 0 PIK3R5 23533 broad.mit.edu 37 17 8784284 8784284 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:8784284G>A uc002glt.2 - 18 2500 c.2433C>T c.(2431-2433)AAC>AAT p.N811N PIK3R5_uc010vuz.1_Silent_p.N811N|PIK3R5_uc002glu.3_Silent_p.N425N NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 811 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AGGGGCAGCTGTTGGAGCCGA 0.562 NSCLC(18;589 615 7696 20311 50332) NA 38 83 0 0 0.011902 0 0 WDR16 146845 broad.mit.edu 37 17 9532031 9532031 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:9532031C>G uc002gly.2 + 9 1137 c.1068C>G c.(1066-1068)ATC>ATG p.I356M WDR16_uc002glz.2_Missense_Mutation_p.I288M|WDR16_uc010coc.2_Missense_Mutation_p.I366M NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 356 WD 5. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AGAAGGATATCAGGGTGTGGC 0.517 NA 5 87 0 0 0.014758 0 0 MYH4 4622 broad.mit.edu 37 17 10369629 10369629 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:10369629C>T uc002gmn.2 - 4 420 c.309G>A c.(307-309)CTG>CTA p.L103L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 103 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGAGGTTATACAGCACAGCAG 0.458 NA 50 73 0 0 0.01441 0 0 MYH3 4621 broad.mit.edu 37 17 10535936 10535936 + Nonsense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:10535936C>A uc002gmq.1 - 33 4890 c.4813G>T c.(4813-4815)GAG>TAG p.E1605* NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1605 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTCCGCACCTCGGCGTCCAGG 0.557 NA 10 517 1.61879e-10 1.87742e-10 0.013537 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318672 21318672 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:21318672G>T uc002gyv.1 + 3 723 c.18G>T c.(16-18)CGG>CGT p.R6R NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 6 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CGGCCAGCCGGGCCAACCCCT 0.697 NA Prostate(3;0.18) 4 40 1.23904e-05 1.32887e-05 0.014758 1 0 NF1 4763 broad.mit.edu 37 17 29657349 29657349 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:29657349G>A uc002hgg.2 + 39 5978 c.5645G>A c.(5644-5646)TGT>TAT p.C1882Y NF1_uc002hgh.2_Missense_Mutation_p.C1861Y|NF1_uc002hgi.1_Missense_Mutation_p.C894Y|NF1_uc010cso.2_Missense_Mutation_p.C70Y NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1882 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.C1882F(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCCTTAACTTGTACCTTTAAT 0.353 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 49 78 0 0 0.01441 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349570 30349570 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:30349570A>G uc002hgu.2 + 1 1416 c.1405A>G c.(1405-1407)AAG>GAG p.K469E LRRC37B_uc010wbx.1_Missense_Mutation_p.K387E|LRRC37B_uc010csu.2_Missense_Mutation_p.K469E NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 469 Extracellular (Potential). K -> E (in Ref. 2; AAR28082). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGCCCTGGAGAAGACTAGAGC 0.527 NA 55 114 0 0 0.01441 0 0 MED1 5469 broad.mit.edu 37 17 37565297 37565297 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:37565297G>C uc002hrv.3 - 17 3389 c.3177C>G c.(3175-3177)CCC>CCG p.P1059P MED1_uc010wee.1_Silent_p.P887P|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1059 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) TTTTGGGAATGGGTGGTGTGG 0.507 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 306 187 0 0 0.01441 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031516 38031516 + Nonsense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:38031516C>T uc002hte.2 + 7 871 c.718C>T c.(718-720)CGA>TGA p.R240* ZPBP2_uc002htf.2_Nonsense_Mutation_p.R218* NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 240 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCAAGAGATCGAATAGAAGA 0.358 NA 16 162 0 0 0.00499 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031554 38031554 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:38031554C>T uc002hte.2 + 7 909 c.756C>T c.(754-756)TTC>TTT p.F252F ZPBP2_uc002htf.2_Silent_p.F230F NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 252 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) CATATATTTTCTACCATAACT 0.373 NA 20 160 0 0 0.008871 0 0 TOP2A 7153 broad.mit.edu 37 17 38545891 38545891 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:38545891C>T uc002huq.2 - 35 4602 c.4476G>A c.(4474-4476)AAG>AAA p.K1492K NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1492 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CACTCTCCCCCTTGGATTTCT 0.398 NA 3 38 0 0 0.009096 0 0 TOP2A 7153 broad.mit.edu 37 17 38546301 38546301 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:38546301C>T uc002huq.2 - 34 4509 c.4383G>A c.(4381-4383)AAG>AAA p.K1461K NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 1461 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TGCGGCGATTCTTGGTTTTGG 0.448 NA 5 63 0 0 0.014758 0 0 TUBG2 27175 broad.mit.edu 37 17 40818442 40818442 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:40818442C>T uc010wgr.1 + 10 1354 c.1098C>T c.(1096-1098)TAC>TAT p.Y366Y TUBG2_uc002iaq.2_Silent_p.Y208Y|TUBG2_uc002iar.2_Silent_p.Y213Y|TUBG2_uc002ias.2_Silent_p.Y208Y|TUBG2_uc002iap.2_Silent_p.Y213Y NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 366 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) AGTCTCCCTACCTGCCCTCGG 0.602 NA 28 230 0 0 0.007291 0 0 AOC2 314 broad.mit.edu 37 17 40996773 40996773 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:40996773G>A uc002ibu.2 + 1 165 c.130G>A c.(130-132)GCC>ACC p.A44T AOC2_uc002ibt.2_Missense_Mutation_p.A44T NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 44 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) ATCCCATAGGGCCCAGCCCTG 0.627 NA 63 485 0 0 0.01441 0 0 PPY 5539 broad.mit.edu 37 17 42018943 42018943 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:42018943G>A uc002iep.2 - 2 125 c.80C>T c.(79-81)GCC>GTC p.A27V NM_002722 NP_002713 P01298 PAHO_HUMAN pancreatic polypeptide preproprotein 27 digestion|protein secretion extracellular region hormone activity 0 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) GGCTCCCTGGGCACCCAGCAG 0.612 NA 13 69 0 0 0.020292 0 0 UBTF 7343 broad.mit.edu 37 17 42286812 42286812 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:42286812G>A uc002igb.2 - 16 1880 c.1813C>T c.(1813-1815)CAG>TAG p.Q605* UBTF_uc002igc.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q605*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q568*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q605*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q568* NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 605 HMG box 6. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GAGATGCGCTGCCAGCGACTG 0.587 NA 22 63 0 0 0.016522 0 0 ACBD4 79777 broad.mit.edu 37 17 43215142 43215142 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:43215142G>A uc002iid.2 + 7 862 c.518G>A c.(517-519)AGG>AAG p.R173K ACBD4_uc010wjj.1_Missense_Mutation_p.G186R|ACBD4_uc002iie.2_Missense_Mutation_p.G186R|ACBD4_uc002iif.2_Missense_Mutation_p.R173K|ACBD4_uc002iic.2_Missense_Mutation_p.R173K|ACBD4_uc010dae.2_Missense_Mutation_p.G108R NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 173 fatty-acyl-CoA binding ovary(1)|kidney(1) 2 CATTCACCCAGGGACCTGGAC 0.597 NA 115 336 0 0 0.01441 0 0 KIAA1267 284058 broad.mit.edu 37 17 44249381 44249381 + Silent SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:44249381A>C uc002ikb.2 - 1 214 c.129T>G c.(127-129)CTT>CTG p.L43L KIAA1267_uc002ikc.2_Silent_p.L43L|KIAA1267_uc002ikd.2_Silent_p.L43L|KIAA1267_uc010dav.2_Silent_p.L43L NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 43 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TGGCAGCAATAAGGATGTTGG 0.512 NA 4 468 0 0 0.014758 0 0 NSF 4905 broad.mit.edu 37 17 44782158 44782158 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:44782158G>A uc002iku.2 + 13 1512 c.1408G>A c.(1408-1410)GCA>ACA p.A470T NSF_uc010wke.1_Missense_Mutation_p.A376T|NSF_uc010wkf.1_Missense_Mutation_p.A376T|NSF_uc010wkg.1_Missense_Mutation_p.A465T NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 470 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) CATGGAGAAAGCAGAAAGCCT 0.378 Ovarian(25;472 742 1472 36813 50223) NA 17 138 0 0 0.010504 0 0 HOXB1 3211 broad.mit.edu 37 17 46607116 46607116 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:46607116C>A uc002ink.1 - 2 705 c.699G>T c.(697-699)AGG>AGT p.R233S NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 233 Homeobox. nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CAATCTCCACCCTCCGGGCCC 0.567 NA 49 298 6.03219e-31 8.12584e-31 0.01441 1 0 DLX3 1747 broad.mit.edu 37 17 48072147 48072147 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:48072147A>T uc002ipy.2 - 1 442 c.216T>A c.(214-216)AAT>AAA p.N72K NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 72 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCAAGCCCATTGAGATTGA 0.612 NA 48 106 0 0 0.01441 0 0 ANKFN1 162282 broad.mit.edu 37 17 54403587 54403587 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:54403587G>A uc002iun.1 + 3 103 c.68G>A c.(67-69)GGA>GAA p.G23E NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 23 large_intestine(1)|ovary(1) 2 CACAGAATAGGAAGGAGATTC 0.398 NA 85 108 0 0 0.01441 0 0 HEATR6 63897 broad.mit.edu 37 17 58134604 58134604 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:58134604C>T uc002iyk.1 - 12 1901 c.1884G>A c.(1882-1884)AAG>AAA p.K628K HEATR6_uc010ddk.1_Silent_p.K167K|HEATR6_uc010wos.1_Silent_p.K460K NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 628 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CAGGGGCTTTCTTCCACCAAT 0.517 NA 41 248 0 0 0.00874 0 0 ACE 1636 broad.mit.edu 37 17 61555354 61555354 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:61555354G>T uc002jau.1 + 2 334 c.312G>T c.(310-312)CTG>CTT p.L104L ACE_uc010wph.1_Silent_p.L104L|ACE_uc010wpi.1_Silent_p.L104L|ACE_uc010ddu.1_5'UTR NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 104 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCAAGGAGCTGTATGAACCGA 0.652 NA 17 31 6.94344e-10 7.97022e-10 0.006122 1 0 GH1 2688 broad.mit.edu 37 17 61995377 61995377 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:61995377G>T uc002jdj.2 - 3 353 c.291C>A c.(289-291)TCC>TCA p.S97S GH1_uc002jdi.2_Silent_p.S82S|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.S97S NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 97 S -> F (in IGHD1B; reduced ability to activate the JAK/STAT pathway). glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 ATCCACTCACGGATTTCTGTT 0.572 NA 106 130 8.08851e-39 1.11841e-38 0.01441 1 0 PRKCA 5578 broad.mit.edu 37 17 64800011 64800011 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:64800011C>A uc002jfp.1 + 17 1919 c.1875C>A c.(1873-1875)AAC>AAA p.N625K NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 625 AGC-kinase C-terminal. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GAGCAGAGAACTTTGACAAGT 0.493 NA 33 133 3.03874e-20 3.92483e-20 0.015359 1 0 ABCA8 10351 broad.mit.edu 37 17 66891114 66891114 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:66891114C>A uc002jhp.2 - 20 2864 c.2685G>T c.(2683-2685)CAG>CAT p.Q895H ABCA8_uc002jhq.2_Missense_Mutation_p.Q935H|ABCA8_uc010wqq.1_Missense_Mutation_p.Q935H|ABCA8_uc010wqr.1_Missense_Mutation_p.Q874H|ABCA8_uc002jhr.2_Missense_Mutation_p.Q935H NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 895 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) AAGCTATGTTCTGGTGCTCCA 0.378 NA 23 84 3.7963e-18 4.80049e-18 0.01892 1 0 ABCA9 10350 broad.mit.edu 37 17 67031811 67031811 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:67031811C>T uc002jhu.2 - 7 1075 c.932G>A c.(931-933)GGC>GAC p.G311D ABCA9_uc010dez.2_Missense_Mutation_p.G311D NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 311 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CAAAGACAGGCCATAGAGGAG 0.383 NA 18 54 0 0 0.008871 0 0 SDK2 54549 broad.mit.edu 37 17 71394318 71394318 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:71394318G>T uc010dfm.2 - 24 3210 c.3210C>A c.(3208-3210)CGC>CGA p.R1070R SDK2_uc002jjt.3_Silent_p.R229R|SDK2_uc010dfn.2_Silent_p.R749R NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1070 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CCTGGCGCATGCGGAAGCTGG 0.627 NA 10 76 3.07112e-06 3.33023e-06 0.010729 1 0 CD300C 10871 broad.mit.edu 37 17 72540857 72540857 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:72540857C>T uc002jky.1 - 2 652 c.291G>A c.(289-291)CTG>CTA p.L97L NM_006678 NP_006669 Q08708 CLM6_HUMAN CD300C antigen precursor 97 Extracellular (Potential).|Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity 0 TGAGATTCTCCAGGGTCACTG 0.552 Esophageal Squamous(66;421 1121 20537 25337 27468) NA 45 111 0 0 0.009718 0 0 OTOP2 92736 broad.mit.edu 37 17 72926822 72926822 + Silent SNP G G A rs150890021 by1000genomes TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr17:72926822G>A uc010wrp.1 + 7 1181 c.1092G>A c.(1090-1092)ACG>ACA p.T364T NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 364 integral to membrane p.T364A(1) ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) AGAACCCCACGCGCACTCTGG 0.617 NA 16 112 0 0 0.00499 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969418 5969418 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:5969418G>T uc002kmz.3 - 18 1775 c.1615C>A c.(1615-1617)CAA>AAA p.Q539K L3MBTL4_uc010dkt.2_Missense_Mutation_p.Q539K|L3MBTL4_uc002kmy.3_Missense_Mutation_p.Q368K NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 539 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) CGTGCCACTTGGCTGGCCCGG 0.637 Esophageal Squamous(41;748 902 17366 28959 43175) NA 11 84 4.68919e-08 5.2444e-08 0.008291 1 0 C18orf1 753 broad.mit.edu 37 18 13645351 13645351 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:13645351A>T uc002ksa.2 + 7 1284 c.616A>T c.(616-618)AGG>TGG p.R206W C18orf1_uc002ksb.2_Missense_Mutation_p.R188W|C18orf1_uc002kse.2_Missense_Mutation_p.R169W|C18orf1_uc002ksf.2_Missense_Mutation_p.R151W|C18orf1_uc002ksg.1_Missense_Mutation_p.R129W|C18orf1_uc002ksh.1_Missense_Mutation_p.R148W|C18orf1_uc002ksi.1_Missense_Mutation_p.R130W NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 206 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) AGAGTCCGTGAGGGCCCCACC 0.587 NA 46 146 0 0 0.013114 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996562 19996562 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:19996562C>A uc002ktv.1 - 1 1317 c.1213G>T c.(1213-1215)GCC>TCC p.A405S NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 405 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGATCTTTGGCTCGCTTTCGG 0.383 NA 36 276 6.97489e-18 8.76332e-18 0.021022 1 0 DSG3 1830 broad.mit.edu 37 18 29055815 29055815 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:29055815T>A uc002kws.2 + 16 2701 c.2592T>A c.(2590-2592)GAT>GAA p.D864E DSG3_uc002kwt.2_Missense_Mutation_p.D146E NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 864 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTGGTGTTGATGGTGAAGGCA 0.448 NA 27 114 0 0 0.005443 0 0 C18orf34 374864 broad.mit.edu 37 18 30554589 30554589 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:30554589C>A uc002kxn.2 - 21 2587 c.2445G>T c.(2443-2445)GTG>GTT p.V815V C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Silent_p.V279V|C18orf34_uc010xbr.1_Silent_p.V839V|C18orf34_uc010dmf.1_Silent_p.V135V|C18orf34_uc002kxo.2_Silent_p.V777V|C18orf34_uc002kxp.2_Silent_p.V815V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 815 ovary(1) 1 TGAAGAGGACCACCAGTTTGA 0.512 NA 16 43 2.35188e-11 2.76029e-11 0.006122 1 0 MBD1 4152 broad.mit.edu 37 18 47799766 47799766 + Nonsense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:47799766C>A uc010dow.1 - 13 1959 c.1522G>T c.(1522-1524)GAG>TAG p.E508* MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Nonsense_Mutation_p.E458*|MBD1_uc010xdi.1_Nonsense_Mutation_p.E559*|MBD1_uc002leh.3_Nonsense_Mutation_p.E452*|MBD1_uc002len.2_Intron|MBD1_uc002lei.3_Nonsense_Mutation_p.E508*|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Nonsense_Mutation_p.E459*|MBD1_uc002lel.3_Intron|MBD1_uc002lem.3_Nonsense_Mutation_p.E508*|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Nonsense_Mutation_p.E533*|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Intron NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 508 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGTGTCCACTCGTCCTGGGTA 0.607 NA 35 96 6.05902e-23 7.93034e-23 0.017118 1 0 ME2 4200 broad.mit.edu 37 18 48447064 48447064 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:48447064C>T uc002ley.2 + 9 1134 c.878C>T c.(877-879)GCA>GTA p.A293V ME2_uc010dpd.2_Missense_Mutation_p.A293V NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 293 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GGTCTTCTTGCAGCACAAAAA 0.348 NA 31 98 0 0 0.010818 0 0 MEX3C 51320 broad.mit.edu 37 18 48703798 48703798 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:48703798G>A uc002lfc.3 - 2 903 c.903C>T c.(901-903)TCC>TCT p.S301S NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 301 cytoplasm|nucleus RNA binding|zinc ion binding lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) CACGAATCATGGAGAAGTGCT 0.502 NA 27 40 0 0 0.021523 0 0 WDR7 23335 broad.mit.edu 37 18 54446673 54446673 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:54446673T>C uc002lgk.1 + 18 3170 c.2959T>C c.(2959-2961)TTA>CTA p.L987L WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.L954L NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 987 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TTGGAGTCAGTTAGCTGCTAT 0.403 NA 94 74 0 0 0.01441 0 0 LMAN1 3998 broad.mit.edu 37 18 57026338 57026338 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:57026338C>G uc002lhz.2 - 1 171 c.139G>C c.(139-141)GAG>CAG p.E47Q LMAN1_uc010xek.1_Missense_Mutation_p.E47Q NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 47 Lumenal (Potential).|L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TATTTGTACTCGAAACGGCGA 0.687 NA 45 112 0 0 0.01441 0 0 SALL3 27164 broad.mit.edu 37 18 76753743 76753743 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr18:76753743A>G uc002lmt.2 + 2 1752 c.1752A>G c.(1750-1752)CCA>CCG p.P584P SALL3_uc010dra.2_Silent_p.P191P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGAGTCCCCACAGTCGCTCC 0.746 NA 5 2 0 0 0.013537 0 0 RPS15 6209 broad.mit.edu 37 19 1440170 1440170 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:1440170G>A uc002lsp.1 + 3 304 c.242G>A c.(241-243)CGG>CAG p.R81Q RPS15_uc002lsq.1_Missense_Mutation_p.R88Q NM_001018 NP_001009 P62841 RS15_HUMAN ribosomal protein S15 81 endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm DNA binding|protein binding|RNA binding 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCACCTGCGGGACATGATC 0.637 Ovarian(170;79 2680 5719 44260) NA 4 28 0 0 0.014758 0 0 THOP1 7064 broad.mit.edu 37 19 2790467 2790467 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:2790467A>G uc002lwj.2 + 2 220 c.65A>G c.(64-66)AAC>AGC p.N22S NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 22 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGTGGTAAACGACCTGCGG 0.607 NA 59 81 0 0 0.01441 0 0 MYO1F 4542 broad.mit.edu 37 19 8591385 8591385 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:8591385C>T uc002mkg.2 - 24 2836 c.2722G>A c.(2722-2724)GGT>AGT p.G908S NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 908 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AGGGTCCGACCGCCAACCTTG 0.677 NA 2 2 0 0 0.004672 0 0 OR1M1 125963 broad.mit.edu 37 19 9203967 9203967 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:9203967G>T uc010xkj.1 + 1 47 c.47G>T c.(46-48)GGA>GTA p.G16V NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 ATCCTCCTGGGACTCTCAGAA 0.507 NA 27 33 1.2476e-16 1.55751e-16 0.00632 1 0 MAN2B1 4125 broad.mit.edu 37 19 12758269 12758269 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:12758269G>C uc002mub.2 - 22 2884 c.2808C>G c.(2806-2808)ACC>ACG p.T936T MAN2B1_uc010dyv.1_Silent_p.T935T NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 936 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 TCAAGTTCAAGGTAACGGGGG 0.577 NA 8 169 0 0 0.004482 0 0 OR7A10 390892 broad.mit.edu 37 19 14952191 14952191 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:14952191G>C uc002mzx.1 - 1 499 c.499C>G c.(499-501)CCC>GCC p.P167A NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GTACAAAAGGGCAGTGGCAAC 0.428 NA 37 54 0 0 0.017118 0 0 OR7A17 26333 broad.mit.edu 37 19 14991871 14991871 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:14991871G>C uc010xob.1 - 1 297 c.297C>G c.(295-297)ACC>ACG p.T99T NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) AGCACATCTGGGTGATGCAGC 0.468 NA 45 50 0 0 0.01441 0 0 OR7C2 26658 broad.mit.edu 37 19 15052376 15052376 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:15052376C>T uc010xoc.1 + 1 76 c.76C>T c.(76-78)CTC>TTC p.L26F NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) CATGCAGCTTCTCCTCCATGG 0.537 NA 66 66 0 0 0.01441 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586354 15586354 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:15586354A>G uc002nbf.3 - 2 1260 c.1127T>C c.(1126-1128)TTC>TCC p.F376S PGLYRP2_uc002nbg.3_Missense_Mutation_p.F376S NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 376 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CTCACCCAGGAAGGCCTCAGT 0.517 NA 110 140 0 0 0.01441 0 0 MAST3 23031 broad.mit.edu 37 19 18254604 18254604 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:18254604T>G uc002nhz.3 + 21 2284 c.2284T>G c.(2284-2286)TGT>GGT p.C762G NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 762 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 TGGATCCTCCTGTCAGTCATC 0.592 NA 4 37 0 0 0.009096 0 0 ZNF569 148266 broad.mit.edu 37 19 37903769 37903769 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:37903769C>A uc002ogi.2 - 6 2349 c.1791G>T c.(1789-1791)ATG>ATT p.M597I ZNF569_uc002ogh.2_Missense_Mutation_p.M438I|ZNF569_uc002ogj.2_Missense_Mutation_p.M621I NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 597 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGGCCTCTCATGTGCACAA 0.403 NA 82 79 2.96794e-49 4.18501e-49 0.01441 1 0 FCGBP 8857 broad.mit.edu 37 19 40367914 40367914 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:40367914T>C uc002omp.3 - 29 13054 c.13046A>G c.(13045-13047)GAG>GGG p.E4349G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4349 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAGGTGATCTCTGTGGGCAG 0.607 NA 47 117 0 0 0.011902 0 0 CYP2A7 1549 broad.mit.edu 37 19 41386491 41386491 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:41386491C>A uc002opm.2 - 3 928 c.386G>T c.(385-387)CGC>CTC p.R129L CYP2A7_uc002opo.2_Missense_Mutation_p.R129L|CYP2A7_uc002opn.2_Missense_Mutation_p.R78L NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 129 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GATGGCAAAGCGCAGGAGCTG 0.697 NA 14 35 6.31663e-08 7.05447e-08 0.003163 1 0 FOXA3 3171 broad.mit.edu 37 19 46376130 46376130 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:46376130A>T uc002pdr.2 + 2 1064 c.867A>T c.(865-867)CCA>CCT p.P289P NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 289 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TGGAGCTCCCAGGGGAGCTGA 0.607 NA 38 24 0 0 0.007835 0 0 LIG1 3978 broad.mit.edu 37 19 48620931 48620931 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:48620931G>A uc002pia.1 - 26 2667 c.2547C>T c.(2545-2547)CTC>CTT p.L849L LIG1_uc010xze.1_Silent_p.L542L|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.L781L|LIG1_uc010xzg.1_Silent_p.L818L NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 849 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GAGAGAGGGAGAGGTCAGCGC 0.662 NA NER 9 22 0 0 0.004482 0 0 SLC6A16 28968 broad.mit.edu 37 19 49814442 49814442 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:49814442G>A uc002pmz.2 - 2 397 c.163C>T c.(163-165)CGG>TGG p.R55W SLC6A16_uc002pna.2_Missense_Mutation_p.R55W|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 55 Cytoplasmic (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) TCTGCAACCCGGGCTGCTGAA 0.542 NA 9 59 0 0 0.006214 0 0 POLD1 5424 broad.mit.edu 37 19 50905742 50905742 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:50905742A>G uc002psb.3 + 7 846 c.790A>G c.(790-792)AAC>GAC p.N264D POLD1_uc002psc.3_Missense_Mutation_p.N264D|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.N264D NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 264 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGTCGGCTGCAACTGGCTGGA 0.667 NA DNA_polymerases_(catalytic_subunits) 11 8 0 0 0.007413 0 0 LILRB2 10288 broad.mit.edu 37 19 54783844 54783844 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:54783844G>T uc002qfb.2 - 4 423 c.157C>A c.(157-159)CTT>ATT p.L53I LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L53I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L53I|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 53 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGCTTCAAGGCTCCCCTGA 0.547 NA 147 133 1.24568e-56 1.76923e-56 0.01441 1 0 GP6 51206 broad.mit.edu 37 19 55543670 55543670 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:55543670C>G uc002qik.2 - 3 190 c.162G>C c.(160-162)GTG>GTC p.V54V GP6_uc002qil.2_Silent_p.V54V|GP6_uc010esq.2_Silent_p.V54V|RDH13_uc010esr.1_Intron NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 54 Ig-like C2-type 1.|Extracellular (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GGTACAGGTCCACGCCCGGAG 0.652 NA 52 44 0 0 0.01441 0 0 NLRP8 126205 broad.mit.edu 37 19 56490839 56490839 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:56490839C>A uc002qmh.2 + 9 3027 c.2956C>A c.(2956-2958)CTG>ATG p.L986M NLRP8_uc010etg.2_Missense_Mutation_p.L967M NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 986 LRR 6. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTGAGACATCTGGACTTGAG 0.488 NA 97 94 8.92586e-32 1.20861e-31 0.01441 1 0 C2orf48 348738 broad.mit.edu 37 2 10350487 10350487 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:10350487G>A uc002rai.1 + 4 533 c.244G>A c.(244-246)GCC>ACC p.A82T NM_182626 NP_872432 Q96LS8 CB048_HUMAN hypothetical protein LOC348738 82 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) GAGAAGCCCAGCCCTCATTGT 0.522 NA 57 99 0 0 0.01441 0 0 WDR35 57539 broad.mit.edu 37 2 20153619 20153619 + Missense_Mutation SNP C C A rs146380332 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:20153619C>A uc002rdi.2 - 13 1517 c.1409G>T c.(1408-1410)CGG>CTG p.R470L WDR35_uc002rdj.2_Missense_Mutation_p.R459L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R35L|WDR35_uc002rdk.3_Missense_Mutation_p.R35L NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 470 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTCGAGACCGTGTGATCTG 0.378 NA 34 204 2.80507e-11 3.28235e-11 0.012213 1 0 C2orf39 92749 broad.mit.edu 37 2 26676417 26676417 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:26676417G>T uc002rhg.2 + 14 1993 c.1919G>T c.(1918-1920)AGG>ATG p.R640M NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 640 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAAGCCTAGGTGGGCTGCG 0.567 NA 13 67 1.3612e-06 1.4884e-06 0.003163 1 0 ALK 238 broad.mit.edu 37 2 29519878 29519878 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:29519878A>G uc002rmy.2 - 9 2600 c.1693T>C c.(1693-1695)TCC>CCC p.S565P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 565 MAM 2.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGCACCAAGGACACGTTTCCC 0.547 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 16 117 0 0 0.00499 0 0 HEATR5B 54497 broad.mit.edu 37 2 37302747 37302747 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:37302747G>A uc002rpp.1 - 5 574 c.478C>T c.(478-480)CTA>TTA p.L160L NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 160 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ACTTTCTGTAGACTCATTAAG 0.388 NA 48 174 0 0 0.01441 0 0 CYP1B1 1545 broad.mit.edu 37 2 38297933 38297933 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:38297933G>C uc002rqo.2 - 4 1967 c.1564C>G c.(1564-1566)CTC>GTC p.L522V NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 522 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) GACTCTCTGAGAGTGACATTG 0.408 NA 54 123 0 0 0.01441 0 0 EML4 27436 broad.mit.edu 37 2 42530318 42530318 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:42530318A>G uc002rsi.2 + 15 1978 c.1716A>G c.(1714-1716)CGA>CGG p.R572R EML4_uc010fap.2_Silent_p.R514R|EML4_uc002rsj.2_Silent_p.R261R|EML4_uc010faq.2_5'UTR|EML4_uc010ynv.1_5'UTR NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 572 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 GCACATCACGAAACTTTATTT 0.348 NA T ALK NSCLC 28 165 0 0 0.007291 0 0 COX7A2L 9167 broad.mit.edu 37 2 42578436 42578436 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:42578436T>A uc002rsk.2 - 3 323 c.268A>T c.(268-270)ACC>TCC p.T90S COX7A2L_uc002rsl.2_RNA NM_004718 NP_004709 O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 90 respiratory electron transport chain mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity 0 AGCGCCATGGTGGTCCGGTAA 0.522 NA 28 53 0 0 0.007291 0 0 THADA 63892 broad.mit.edu 37 2 43768305 43768305 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:43768305A>T uc002rsw.3 - 21 3609 c.3257T>A c.(3256-3258)GTG>GAG p.V1086E THADA_uc010far.2_Missense_Mutation_p.V355E|THADA_uc002rsx.3_Missense_Mutation_p.V1086E|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.V795E|THADA_uc010fat.1_Missense_Mutation_p.V233E|THADA_uc002rta.2_Missense_Mutation_p.V796E NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1086 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TACCTGCTCCACCGTCAATAA 0.388 NA 34 66 0 0 0.010818 0 0 SRBD1 55133 broad.mit.edu 37 2 45616530 45616530 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:45616530G>A uc002rus.2 - 21 2983 c.2907C>T c.(2905-2907)CCC>CCT p.P969P SRBD1_uc010yoc.1_Silent_p.P488P NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 969 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CTCTTTCTCCGGGGCCCAGTC 0.468 NA 4 134 0 0 0.009096 0 0 TTC7A 57217 broad.mit.edu 37 2 47256494 47256495 + Missense_Mutation DNP GG GG TT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:47256494_47256495GG>TT uc002rvo.2 + 15 2141_2142 c.1773_1774GG>TT c.(1771-1776)ATGGCC>ATTTCC p.591_592MA>IS TTC7A_uc002rvm.2_Missense_Mutation_p.557_558MA>IS|TTC7A_uc002rvn.1_Missense_Mutation_p.472_473MA>IS|TTC7A_uc010fbb.2_Missense_Mutation_p.591_592MA>IS|TTC7A_uc010fbc.2_Missense_Mutation_p.237_238MA>IS|TTC7A_uc002rvp.2_Missense_Mutation_p.472_473MA>IS|TTC7A_uc002rvq.2_Missense_Mutation_p.331_332MA>IS|TTC7A_uc002rvr.2_Missense_Mutation_p.40_41MA>IS NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 591_592 TPR 6. binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TTGTCAACATGGCCATCACCGA 0.619 NA 51 137 0 0 0.004672 0 0 RTN4 57142 broad.mit.edu 37 2 55253145 55253145 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:55253145A>G uc002rye.2 - 3 2388 c.2090T>C c.(2089-2091)ATT>ACT p.I697T RTN4_uc002ryd.2_Missense_Mutation_p.I491T|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 697 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 ATCACATGCAATAGATATATA 0.343 NA 52 107 0 0 0.01441 0 0 RTN4 57142 broad.mit.edu 37 2 55253716 55253716 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:55253716C>T uc002rye.2 - 3 1817 c.1519G>A c.(1519-1521)GAG>AAG p.E507K RTN4_uc002ryd.2_Missense_Mutation_p.E301K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 507 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 GTATTCTTCTCTGTTACTATT 0.353 NA 33 153 0 0 0.015359 0 0 AFTPH 54812 broad.mit.edu 37 2 64808353 64808353 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:64808353G>C uc002sdc.2 + 7 2517 c.2485G>C c.(2485-2487)GAT>CAT p.D829H AFTPH_uc002scz.2_Missense_Mutation_p.D829H|AFTPH_uc002sda.2_Intron|AFTPH_uc002sdb.2_Intron NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 829 Clathrin-binding (Potential). protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 TCTGAACCTTGATTTCTTTGG 0.478 NA 3 30 0 0 0.004672 0 0 ANTXR1 84168 broad.mit.edu 37 2 69304605 69304605 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:69304605A>G uc002sfg.2 + 8 983 c.627A>G c.(625-627)CAA>CAG p.Q209Q ANTXR1_uc002sfe.2_Silent_p.Q209Q|ANTXR1_uc002sff.2_Silent_p.Q209Q|ANTXR1_uc002sfd.2_Silent_p.Q209Q NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 209 Extracellular (Potential).|VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 AGGCTCTGCAAGGCATCATCC 0.488 NA Familial_Infantile_Hemangioma 28 228 0 0 0.007291 0 0 DCTN1 1639 broad.mit.edu 37 2 74597136 74597136 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:74597136G>C uc002skx.2 - 13 1659 c.1348C>G c.(1348-1350)CTG>GTG p.L450V DCTN1_uc002skv.2_Missense_Mutation_p.L316V|DCTN1_uc002sku.2_Missense_Mutation_p.L316V|DCTN1_uc002skw.1_Missense_Mutation_p.L426V|DCTN1_uc010ffd.2_Missense_Mutation_p.L430V|DCTN1_uc002sky.2_Missense_Mutation_p.L413V NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 450 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 TTCTCTTCCAGATTCAGGTTC 0.537 NA 52 229 0 0 0.01441 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746613 77746613 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:77746613T>A uc002snr.2 - 3 797 c.382A>T c.(382-384)ACA>TCA p.T128S LRRTM4_uc002snq.2_Missense_Mutation_p.T128S|LRRTM4_uc002sns.2_Missense_Mutation_p.T128S|LRRTM4_uc002snt.2_Missense_Mutation_p.T129S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 128 LRR 3.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGGTGAAATGTTTTATTGTGC 0.378 NA 25 68 0 0 0.016522 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88885469 88885469 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:88885469C>G uc002stc.3 - 9 1742 c.1540G>C c.(1540-1542)GAT>CAT p.D514H NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 514 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AGAACAGGATCCTTTTTGCGG 0.398 GBM(138;671 1851 16235 39058 45249) NA 74 140 0 0 0.01441 0 0 INPP4A 3631 broad.mit.edu 37 2 99193584 99193584 + Nonsense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:99193584C>T uc002syy.2 + 25 3172 c.2779C>T c.(2779-2781)CAG>TAG p.Q927* INPP4A_uc010yvj.1_Nonsense_Mutation_p.Q888*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.Q888*|INPP4A_uc002syx.2_Nonsense_Mutation_p.Q922*|INPP4A_uc010fik.2_Nonsense_Mutation_p.Q256* NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 927 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 GGTCTTCACCCAGGCCCTGGA 0.527 NA 26 32 0 0 0.01892 0 0 AFF3 3899 broad.mit.edu 37 2 100210522 100210522 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:100210522C>T uc002tag.2 - 14 1837 c.1601G>A c.(1600-1602)AGG>AAG p.R534K AFF3_uc002taf.2_Missense_Mutation_p.R559K|AFF3_uc010fiq.1_Missense_Mutation_p.R534K|AFF3_uc010yvr.1_Missense_Mutation_p.R687K|AFF3_uc002tah.1_Missense_Mutation_p.R559K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 534 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GTTGGCTGTCCTTGGCCTTTG 0.647 NA 131 192 0 0 0.01441 0 0 NMS 129521 broad.mit.edu 37 2 101093874 101093874 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:101093874G>A uc002tan.1 + 5 266 c.259G>A c.(259-261)GGG>AGG p.G87R NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 87 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 AGTTAAAACTGGGGTCAGTAT 0.383 NA 18 65 0 0 0.012319 0 0 IL1R1 3554 broad.mit.edu 37 2 102785058 102785058 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:102785058A>C uc002tbq.2 + 7 974 c.656A>C c.(655-657)GAG>GCG p.E219A IL1R1_uc010fix.2_Missense_Mutation_p.E219A|IL1R1_uc002tbp.2_Missense_Mutation_p.E219A|IL1R1_uc002tbr.2_Missense_Mutation_p.E219A NM_000877 NP_000868 P14778 IL1R1_HUMAN interleukin 1 receptor, type I precursor 219 Extracellular (Potential). innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding skin(1) 1 Anakinra(DB00026) TTTCTTTCAGAGGAAAACAAA 0.433 NA 4 232 0 0 0.014758 0 0 SLC9A4 389015 broad.mit.edu 37 2 103141553 103141553 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:103141553G>A uc002tbz.3 + 10 2346 c.1889G>A c.(1888-1890)CGC>CAC p.R630H NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 630 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 ATTCTGATCCGCCGCCAGAAC 0.507 NA 17 320 0 0 0.007413 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460211 107460211 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:107460211C>G uc002tdq.2 - 2 342 c.223G>C c.(223-225)GAC>CAC p.D75H ST6GAL2_uc002tdr.2_Missense_Mutation_p.D75H|ST6GAL2_uc002tds.3_Missense_Mutation_p.D75H NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 75 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TGGCGTGCGTCCAGGCCCCCA 0.692 NA 15 52 0 0 0.020292 0 0 PTPN4 5775 broad.mit.edu 37 2 120723109 120723109 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:120723109A>G uc002tmf.1 + 25 3217 c.2446A>G c.(2446-2448)ATA>GTA p.I816V PTPN4_uc010flj.1_Missense_Mutation_p.I529V|PTPN4_uc010yyr.1_Missense_Mutation_p.I449V NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 816 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GATCCAGTACATAGCCTGGCC 0.368 NA 85 106 0 0 0.01441 0 0 MYO7B 4648 broad.mit.edu 37 2 128394197 128394197 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:128394197G>C uc002top.2 + 45 6176 c.6123G>C c.(6121-6123)AAG>AAC p.K2041N MYO7B_uc002tos.1_Missense_Mutation_p.K151N|MYO7B_uc002tot.2_Missense_Mutation_p.K151N NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 2041 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TCCACCCCAAGACCAAGGTAG 0.652 NA 5 24 0 0 0.014758 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489461 133489461 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:133489461C>A uc002ttp.2 - 17 5666 c.5292G>T c.(5290-5292)ATG>ATT p.M1764I NCKAP5_uc002ttq.2_Missense_Mutation_p.M445I NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1764 protein binding 0 TTTGGGCTCTCATGGAAGAAA 0.582 NA 20 90 4.26978e-12 5.07198e-12 0.01892 1 0 NCKAP5 344148 broad.mit.edu 37 2 133547750 133547750 + Nonsense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:133547750A>T uc002ttp.2 - 13 1312 c.938T>A c.(937-939)TTG>TAG p.L313* NCKAP5_uc002ttq.2_Nonsense_Mutation_p.L313* NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 313 protein binding 0 AGGGCATTTCAAGGCCGATTT 0.493 NA 3 48 0 0 0.004672 0 0 LRP1B 53353 broad.mit.edu 37 2 141032165 141032165 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:141032165C>A uc002tvj.1 - 85 13942 c.12970G>T c.(12970-12972)GTG>TTG p.V4324L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4324 Extracellular (Potential).|EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGTGGCACACGTCTAGGAAA 0.353 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 24 46 2.98393e-07 3.30891e-07 0.016522 1 0 DPP4 1803 broad.mit.edu 37 2 162868405 162868405 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:162868405C>G uc002ubz.2 - 20 2291 c.1730G>C c.(1729-1731)AGC>ACC p.S577T DPP4_uc010fpb.2_Missense_Mutation_p.S253T NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 577 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) GCCATCAAAGCTAGCTACTAT 0.428 NA 11 223 0 0 0.010729 0 0 SCN2A 6326 broad.mit.edu 37 2 166201299 166201299 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:166201299C>A uc002udc.2 + 16 3087 c.2797C>A c.(2797-2799)CTG>ATG p.L933M SCN2A_uc002udd.2_Missense_Mutation_p.L933M|SCN2A_uc002ude.2_Missense_Mutation_p.L933M NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 933 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCACTCCTTCCTGATCGTGTT 0.493 NA 63 199 3.07281e-33 4.19701e-33 0.01441 1 0 SCN9A 6335 broad.mit.edu 37 2 167168167 167168167 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:167168167C>G uc010fpl.2 - 2 441 c.100G>C c.(100-102)GAA>CAA p.E34Q NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 34 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTTGGGTTCCTTTGATTTT 0.468 NA 43 182 0 0 0.009718 0 0 XIRP2 129446 broad.mit.edu 37 2 168100642 168100642 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:168100642T>C uc002udx.2 + 8 2758 c.2740T>C c.(2740-2742)TGG>CGG p.W914R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.W739R|XIRP2_uc010fpq.2_Missense_Mutation_p.W692R|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 739 Xin 11. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCATCAAAAATGGATTTTTGA 0.368 NA 26 75 0 0 0.021523 0 0 KBTBD10 10324 broad.mit.edu 37 2 170336019 170336019 + Translation_Start_Site SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:170336019G>T uc010zdh.1 + 1 14 c.-44G>T c.(-46--42)TAGGC>TATGC BBS5_uc002uet.2_Translation_Start_Site|BBS5_uc010fpw.2_Translation_Start_Site NM_152384 NP_689597 O60662 KBTBA_HUMAN Bardet-Biedl syndrome 5 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 GACGCAGCTAGGCCTGCACGG 0.662 NA 7 25 2.0095e-06 2.18812e-06 0.001984 1 0 TLK1 9874 broad.mit.edu 37 2 171863034 171863034 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:171863034C>G uc002ugn.2 - 17 2190 c.1718G>C c.(1717-1719)AGA>ACA p.R573T TLK1_uc002ugo.2_Missense_Mutation_p.R594T|TLK1_uc002ugp.2_Missense_Mutation_p.R525T|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.R477T NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 573 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 ATTGAGATATCTTAGTGCATT 0.313 NA 3 204 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179395627 179395627 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:179395627G>T uc010zfg.1 - 307 98235 c.98011C>A c.(98011-98013)CCT>ACT p.P32671T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26366T|TTN_uc010zfi.1_Missense_Mutation_p.P26299T|TTN_uc010zfj.1_Missense_Mutation_p.P26174T|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33598 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCACCCGAGGCTCTGGGGAT 0.483 NA 73 148 1.46168e-27 1.94891e-27 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179497651 179497651 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:179497651C>A uc010zfg.1 - 183 35727 c.35503G>T c.(35503-35505)GTG>TTG p.V11835L TTN_uc010zfh.1_Missense_Mutation_p.V5530L|TTN_uc010zfi.1_Missense_Mutation_p.V5463L|TTN_uc010zfj.1_Missense_Mutation_p.V5338L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12762 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACCTTTCACTTTCAGATTG 0.438 NA 28 199 9.39395e-14 1.1348e-13 0.00632 1 0 TTN 7273 broad.mit.edu 37 2 179550274 179550274 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:179550274G>A uc010zfg.1 - 125 28855 c.28631C>T c.(28630-28632)TCT>TTT p.S9544F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6205F|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10471 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTCTCTTAGAAATAATGTG 0.358 NA 16 27 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179639767 179639767 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:179639767G>T uc010zfg.1 - 29 6895 c.6671C>A c.(6670-6672)TCT>TAT p.S2224Y TTN_uc010zfh.1_Missense_Mutation_p.S2178Y|TTN_uc010zfi.1_Missense_Mutation_p.S2178Y|TTN_uc010zfj.1_Missense_Mutation_p.S2178Y|TTN_uc002unb.2_Missense_Mutation_p.S2224Y|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2224 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTCTGTCAGAGTGCATCCT 0.398 NA 44 85 1.61572e-30 2.17278e-30 0.010771 1 0 DNAH7 56171 broad.mit.edu 37 2 196620908 196620908 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:196620908T>C uc002utj.3 - 62 11636 c.11535A>G c.(11533-11535)AAA>AAG p.K3845K DNAH7_uc002uti.3_Silent_p.K328K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3845 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGCCAAGTGGTTTAAGGCTTG 0.393 NA 4 130 0 0 0.009096 0 0 HECW2 57520 broad.mit.edu 37 2 197182014 197182014 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:197182014G>T uc002utm.1 - 10 2601 c.2418C>A c.(2416-2418)GAC>GAA p.D806E HECW2_uc002utl.1_Missense_Mutation_p.D450E NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 806 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GGAGAGCCTCGTCCACCCTCT 0.522 NA 15 43 1.5739e-10 1.82805e-10 0.004007 1 0 HECW2 57520 broad.mit.edu 37 2 197184122 197184122 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:197184122C>G uc002utm.1 - 9 1675 c.1492G>C c.(1492-1494)GAT>CAT p.D498H HECW2_uc002utl.1_Missense_Mutation_p.D142H NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 498 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTTCCATCATCAGCTCTGGAT 0.512 NA 3 65 0 0 0.004672 0 0 HECW2 57520 broad.mit.edu 37 2 197298062 197298062 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:197298062T>A uc002utm.1 - 2 269 c.86A>T c.(85-87)CAG>CTG p.Q29L NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 29 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GGCAAGGCTCTGGAGGTTCTC 0.592 NA 46 145 0 0 0.01441 0 0 RFTN2 130132 broad.mit.edu 37 2 198482528 198482528 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:198482528A>G uc002uuo.3 - 6 1448 c.1046T>C c.(1045-1047)ATT>ACT p.I349T NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 349 plasma membrane 0 GCTCACCTCAATAACAGTCCA 0.303 NA 21 81 0 0 0.014323 0 0 GPR1 2825 broad.mit.edu 37 2 207041754 207041754 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:207041754G>T uc002vbl.3 - 3 604 c.218C>A c.(217-219)ACT>AAT p.T73N GPR1_uc010fue.2_Missense_Mutation_p.T73N|GPR1_uc010fuf.2_Missense_Mutation_p.T73N NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 73 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) GAACCACAGAGTGGTGACTGT 0.468 NA 13 308 9.31168e-06 1.00142e-05 0.016723 1 0 DYTN 391475 broad.mit.edu 37 2 207527696 207527696 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:207527696G>T uc002vbr.1 - 11 1681 c.1564C>A c.(1564-1566)CTG>ATG p.L522M NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 522 Potential. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCTTCCTCCAGCTCATCCTTT 0.463 NA 115 221 3.45881e-44 4.82511e-44 0.01441 1 0 FASTKD2 22868 broad.mit.edu 37 2 207635937 207635937 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:207635937G>C uc002vbu.2 + 4 1323 c.913G>C c.(913-915)GAA>CAA p.E305Q FASTKD2_uc002vbv.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbx.2_Missense_Mutation_p.E305Q|FASTKD2_uc002vbw.1_Missense_Mutation_p.E305Q NM_001136193 NP_001129665 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 305 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|skin(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TTGGAAAATAGAAGATGTCTT 0.259 NA 16 43 0 0 0.00499 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209141468 209141468 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:209141468G>T uc002vcz.2 + 4 513 c.355G>T c.(355-357)GGT>TGT p.G119C PIKFYVE_uc010fun.1_Translation_Start_Site|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G119C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.G119C|PIKFYVE_uc002vcx.2_Intron NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 119 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TACCTTTGGAGGTCATGACCC 0.428 NA 48 118 2.13384e-23 2.80223e-23 0.01441 1 0 CXCR2P1 3580 broad.mit.edu 37 2 218925700 218925700 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:218925700A>T uc002vgx.2 - 1 314 c.21T>A c.(19-21)ATT>ATA p.I7I RUFY4_uc002vgw.2_Intron NR_002712 Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron. 0 TGGCATGGACAATGGCCAGGT 0.537 NA 6 12 0 0 0.001984 0 0 RHBDD1 84236 broad.mit.edu 37 2 227731981 227731981 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:227731981G>A uc002voi.2 + 3 634 c.513G>A c.(511-513)CCG>CCA p.P171P RHBDD1_uc010fxc.2_Silent_p.P171P NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 171 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TTCCTGTACCGAACAGATTTG 0.398 NA 54 261 0 0 0.01441 0 0 ALPP 250 broad.mit.edu 37 2 233245175 233245175 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:233245175C>T uc002vsq.2 + 7 1003 c.838C>T c.(838-840)CTG>TTG p.L280L ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 280 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCAGGCTTCCCTGGACCCGTC 0.627 NA 8 247 0 0 0.010729 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951264 235951264 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:235951264C>T uc002vvp.2 + 4 2244 c.1851C>T c.(1849-1851)ATC>ATT p.I617I SH3BP4_uc010fym.2_Silent_p.I617I|SH3BP4_uc002vvq.2_Silent_p.I617I NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 617 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AAAGTGCCATCAAGCCTTCCG 0.547 NA 8 93 0 0 0.00308 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741438 242741438 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:242741438T>C uc002wcj.1 + 3 493 c.362T>C c.(361-363)TTC>TCC p.F121S NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 121 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CACCTGAGGTTCAACCTGCCT 0.667 NA 14 25 0 0 0.020292 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242742789 242742789 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:242742789C>G uc002wcj.1 + 4 536 c.405C>G c.(403-405)TTC>TTG p.F135L NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 135 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) ACGACACCTTCTACTTCTCCA 0.667 NA 7 18 0 0 0.00308 0 0 NRSN2 80023 broad.mit.edu 37 20 334097 334097 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:334097G>A uc002wdi.3 + 4 971 c.433G>A c.(433-435)GAC>AAC p.D145N NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron NM_024958 NP_079234 Q9GZP1 NRSN2_HUMAN neurensin 2 145 integral to membrane|plasma membrane|transport vesicle 0 all_cancers(10;0.0834) GCTGAGCCAGGACACCAAGGC 0.632 NA 6 112 0 0 0.00308 0 0 ZNF343 79175 broad.mit.edu 37 20 2464027 2464027 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:2464027C>A uc002wge.1 - 6 2068 c.1580G>T c.(1579-1581)GGG>GTG p.G527V ZNF343_uc010gao.1_Missense_Mutation_p.G527V|ZNF343_uc002wgd.1_Missense_Mutation_p.G437V NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 527 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AAAGCCTCGCCCACATTCCCT 0.512 NA 47 95 2.40228e-13 2.89752e-13 0.013114 1 0 C20orf194 25943 broad.mit.edu 37 20 3340199 3340199 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:3340199C>T uc002wii.2 - 7 705 c.654G>A c.(652-654)AAG>AAA p.K218K C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 218 0 TAGGATCCATCTTGCTGTAGA 0.373 NA 6 79 0 0 0.001168 0 0 ATRN 8455 broad.mit.edu 37 20 3529820 3529820 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:3529820C>A uc002wim.2 + 6 1037 c.947C>A c.(946-948)CCT>CAT p.P316H ATRN_uc002wil.2_Missense_Mutation_p.P316H NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 316 Extracellular (Potential). inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TTATTAGGTCCTGGATGTTCA 0.333 NA 62 119 1.80625e-27 2.40425e-27 0.01441 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3672716 3672716 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:3672716C>A uc002wja.2 - 16 4164 c.4164G>T c.(4162-4164)ACG>ACT p.T1388T SIGLEC1_uc002wjb.1_Silent_p.T27T|SIGLEC1_uc002wiz.3_Silent_p.T1388T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1388 Ig-like C2-type 14.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CCCCGCTGCTCGTGGCCAGCA 0.617 NA 5 35 0.000602214 0.000627841 0.014758 1 0 SSTR4 6754 broad.mit.edu 37 20 23016252 23016252 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:23016252G>T uc002wsr.2 + 1 196 c.132G>T c.(130-132)GCG>GCT p.A44A NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 44 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) acgcgcgggcggcgggcATGG 0.562 Esophageal Squamous(15;850 1104 16640) NA 18 32 9.16793e-09 1.04018e-08 0.00499 1 0 C20orf185 359710 broad.mit.edu 37 20 31661396 31661396 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:31661396G>T uc002wym.1 + 15 1416 c.1416G>T c.(1414-1416)CTG>CTT p.L472L NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 472 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 CTGTTGTGCTGACCGTGGCAT 0.557 NA 34 116 9.8876e-21 1.27919e-20 0.021022 1 0 C20orf186 149954 broad.mit.edu 37 20 31680430 31680430 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:31680430A>T uc010zue.1 + 9 1325 c.1310A>T c.(1309-1311)CAG>CTG p.Q437L NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 437 cytoplasm|extracellular region lipid binding 0 CTGCAGAAGCAGCATGCTCTA 0.592 NA 64 131 0 0 0.01441 0 0 EPB41L1 2036 broad.mit.edu 37 20 34802331 34802331 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:34802331C>G uc002xfb.2 + 17 2408 c.2237C>G c.(2236-2238)TCC>TGC p.S746C EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Intron|EPB41L1_uc002xev.2_Missense_Mutation_p.S745C|EPB41L1_uc002xew.2_Missense_Mutation_p.S637C|EPB41L1_uc002xex.2_Missense_Mutation_p.S566C|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Intron|EPB41L1_uc010gfq.2_Missense_Mutation_p.S844C NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 746 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) ACCACTCCCTCCATCACCACG 0.582 NA 3 90 0 0 0.004672 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990391 39990391 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:39990391G>T uc002xjy.1 - 4 2042 c.1818C>A c.(1816-1818)AGC>AGA p.S606R NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 606 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CAGAGTACTGGCTGACAGAGT 0.582 NA 62 105 3.00472e-47 4.22927e-47 0.01441 1 0 PIGT 51604 broad.mit.edu 37 20 44047576 44047576 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:44047576A>T uc002xoh.1 + 3 523 c.450A>T c.(448-450)ACA>ACT p.T150T PIGT_uc010ghb.1_Silent_p.T140T|PIGT_uc010zwt.1_Intron|PIGT_uc010ghd.1_Missense_Mutation_p.Q91L|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Intron|PIGT_uc010ghf.1_Missense_Mutation_p.Q137L|PIGT_uc002xoj.1_Silent_p.T150T|PIGT_uc002xok.1_Silent_p.T150T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Intron|PIGT_uc010zwx.1_Missense_Mutation_p.Q19L|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Intron|PIGT_uc002xol.1_5'UTR|PIGT_uc010zxb.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 150 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCACCAACACAGTCACTCCCA 0.512 NA 61 168 0 0 0.01441 0 0 WFDC11 259239 broad.mit.edu 37 20 44278014 44278014 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:44278014C>T uc002xpa.2 - 4 320 c.125G>A c.(124-126)TGC>TAC p.C42Y NM_147197 NP_671730 Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 precursor 42 extracellular region 0 Myeloproliferative disorder(115;0.0122) CTTTCCCCAGCATTCTTCAAG 0.393 NA 66 163 0 0 0.01441 0 0 SLC12A5 57468 broad.mit.edu 37 20 44671860 44671860 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:44671860C>A uc010zxl.1 + 9 1280 c.1204C>A c.(1204-1206)CTG>ATG p.L402M SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L379M NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 402 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTCGGTGGGCCTGGCCGATGG 0.577 NA 64 553 3.4266e-16 4.23731e-16 0.01441 1 0 DPM1 8813 broad.mit.edu 37 20 49558641 49558641 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:49558641C>T uc002xvw.1 - 6 421 c.421G>A c.(421-423)GAT>AAT p.D141N DPM1_uc002xvv.1_Missense_Mutation_p.D36N|DPM1_uc002xvx.1_RNA NM_003859 NP_003850 O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase 1 141 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding ovary(1) 1 GAGACAATATCAAAATTACCC 0.353 NA 9 161 0 0 0.008291 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871901 51871901 + Missense_Mutation SNP G G A rs139065096 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:51871901G>A uc002xwo.2 + 2 2860 c.1904G>A c.(1903-1905)CGC>CAC p.R635H NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 635 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GATTCTTTCCGCAAAAGTGAA 0.522 NA 9 156 0 0 0.004482 0 0 PHACTR3 116154 broad.mit.edu 37 20 58318161 58318161 + Splice_Site SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:58318161G>A uc002yau.2 + 2 586 c.119_splice c.e2-1 p.D40_splice PHACTR3_uc002yat.2_Splice_Site_p.D37_splice|PHACTR3_uc010zzw.1_Splice_Site|PHACTR3_uc002yav.2_Splice_Site|PHACTR3_uc002yaw.2_Splice_Site|PHACTR3_uc002yax.2_Splice_Site NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TCGTCTTCCAGATGAGATGGA 0.587 NA 102 211 0 0 0.01441 0 0 LAMA5 3911 broad.mit.edu 37 20 60890128 60890128 + Missense_Mutation SNP C C T rs149325805 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr20:60890128C>T uc002ycq.2 - 59 8070 c.8003G>A c.(8002-8004)CGG>CAG p.R2668Q NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2668 Potential.|Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCTGGCCCCGCAGGCCCTC 0.706 NA 9 40 0 0 0.004482 0 0 C21orf62 56245 broad.mit.edu 37 21 34166538 34166538 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr21:34166538G>A uc010glz.2 - 4 567 c.195C>T c.(193-195)ACC>ACT p.T65T C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Silent_p.T65T|C21orf62_uc011adu.1_Silent_p.T65T NM_001162495 NP_001155967 Q9NYP8 CU062_HUMAN hypothetical protein LOC56245 65 ovary(1) 1 Myeloproliferative disorder(46;0.0255) GGGGCAGGACGGTTTTACAGT 0.537 NA 11 123 0 0 0.008291 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970637 45970637 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr21:45970637G>C uc002zfi.1 - 1 752 c.705C>G c.(703-705)TGC>TGG p.C235W C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 235 keratin filament large_intestine(1) 1 ACACGGGGCGGCAGAGGAGGG 0.672 NA 59 69 0 0 0.01441 0 0 PCNT 5116 broad.mit.edu 37 21 47786561 47786561 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr21:47786561A>G uc002zji.3 + 15 2779 c.2672A>G c.(2671-2673)CAG>CGG p.Q891R PCNT_uc002zjj.2_Missense_Mutation_p.Q773R NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 891 Missing (in Ref. 1; AAD10838). cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCCTTCCTGCAGGAGGCCCAG 0.562 NA 8 87 0 0 0.010729 0 0 PRODH 5625 broad.mit.edu 37 22 18905888 18905888 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:18905888C>T uc010grl.2 - 11 1382 c.1368G>A c.(1366-1368)GAG>GAA p.E456E PRODH_uc002zoj.3_Silent_p.E346E|PRODH_uc002zol.3_Silent_p.E346E|PRODH_uc002zok.3_Silent_p.E456E NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 456 AE -> Q (in Ref. 7; AAC39529). glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) CATAGCCGATCTCTGCCGCAC 0.667 NA 23 121 0 0 0.014323 0 0 LGALS2 3957 broad.mit.edu 37 22 37966600 37966600 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:37966600G>T uc003ata.2 - 3 344 c.232C>A c.(232-234)CCA>ACA p.P78T NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 78 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) TCTGACCCTGGGCTGAAGCAC 0.582 GBM(193;1840 2185 13711 20676 24505) NA 103 236 8.87708e-63 1.26769e-62 0.01441 1 0 GCAT 23464 broad.mit.edu 37 22 38212280 38212280 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:38212280G>T uc003atz.2 + 8 1080 c.1060G>T c.(1060-1062)GGT>TGT p.G354C GCAT_uc003aua.1_Missense_Mutation_p.G380C NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 354 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGTGATGCTGGGTGATGCCCG 0.577 NA 18 115 1.67942e-08 1.89176e-08 0.006122 1 0 PLA2G6 8398 broad.mit.edu 37 22 38512182 38512182 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:38512182C>T uc003auy.1 - 13 1915 c.1779G>A c.(1777-1779)CCG>CCA p.P593P PLA2G6_uc003auz.1_Silent_p.P539P|PLA2G6_uc003ava.1_Silent_p.P593P|PLA2G6_uc003avb.2_Silent_p.P539P|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 593 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) GGAGTTCAGCCGGCTGCCGGT 0.602 NA 5 73 0 0 0.001168 0 0 PRR5 55615 broad.mit.edu 37 22 45132764 45132764 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:45132764G>A uc003bfb.1 + 8 1076 c.804G>A c.(802-804)GCG>GCA p.A268A PRR5_uc003bew.1_Silent_p.A259A|PRR5_uc003bex.1_Silent_p.A173A|PRR5_uc010gzt.1_Silent_p.A291A|PRR5_uc010gzu.1_Silent_p.A232A|PRR5_uc003bey.1_Silent_p.A259A|PRR5_uc003bez.1_Silent_p.A173A|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Silent_p.A161A|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Silent_p.A167A NM_181333 NP_851850 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 1 268 cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) AGCACGAGGCGGAGGGCGCGG 0.711 NA 4 76 0 0 0.009096 0 0 WNT7B 7477 broad.mit.edu 37 22 46319011 46319011 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:46319011T>A uc003bgo.2 - 4 1149 c.775A>T c.(775-777)AGC>TGC p.S259C WNT7B_uc010haa.2_Missense_Mutation_p.S263C NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 259 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) TTCTGATAGCTGCGCAGCTGT 0.652 NA 48 99 0 0 0.01441 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47274578 47274578 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:47274578A>G uc003bib.2 + 5 802 c.667A>G c.(667-669)ATC>GTC p.I223V TBC1D22A_uc010haf.2_Missense_Mutation_p.I193V|TBC1D22A_uc003bic.2_Missense_Mutation_p.I164V|TBC1D22A_uc003bie.2_Missense_Mutation_p.I145V|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I176V NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 223 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) CTGGTCCGGAATCCCTAAGCC 0.522 NA 4 191 0 0 0.014758 0 0 NCAPH2 29781 broad.mit.edu 37 22 50960175 50960175 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:50960175C>A uc003blr.3 + 12 1128 c.1006C>A c.(1006-1008)CCT>ACT p.P336T NCAPH2_uc003blv.2_Missense_Mutation_p.P336T|NCAPH2_uc010hbb.2_Missense_Mutation_p.P187T|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P336T|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 336 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CCCAGGTAGGCCTTACTCTGT 0.642 NA 7 199 5.4927e-09 6.25913e-09 0.004482 1 0 ODF3B 440836 broad.mit.edu 37 22 50969207 50969207 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:50969207C>A uc003bmh.2 - 6 752 c.615G>T c.(613-615)CTG>CTT p.L205L TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.G182C NM_001014440 NP_001014440 A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 205 DUF1309. 0 AAGTCCGCGCCAGAATCGTGA 0.667 NA 7 26 1.76689e-08 1.98744e-08 0.006214 1 0 GRM7 2917 broad.mit.edu 37 3 7620536 7620536 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:7620536C>T uc003bqm.2 + 8 2217 c.1943C>T c.(1942-1944)GCC>GTC p.A648V GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A648V|GRM7_uc003bql.2_Missense_Mutation_p.A648V|GRM7_uc003bqn.1_Missense_Mutation_p.A231V|GRM7_uc010hch.1_Missense_Mutation_p.A159V NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 648 Helical; Name=2; (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CTGATGATTGCCAAACCAGAT 0.473 NA 49 218 0 0 0.01441 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059650 11059650 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:11059650T>A uc010hdq.2 + 4 771 c.360T>A c.(358-360)CCT>CCA p.P120P NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 120 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) AGCTGGCTCCTATGTTCAAGG 0.612 NA 46 226 0 0 0.01441 0 0 ATG7 10533 broad.mit.edu 37 3 11382132 11382132 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:11382132A>G uc003bwc.2 + 10 1020 c.903A>G c.(901-903)GCA>GCG p.A301A ATG7_uc003bwd.2_Silent_p.A301A|ATG7_uc011aum.1_Silent_p.A262A NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 301 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 GTCCTAAAGCAGTTGGATGGG 0.393 NA 14 64 0 0 0.020292 0 0 CAPN7 23473 broad.mit.edu 37 3 15288300 15288300 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:15288300G>C uc003bzn.2 + 18 2342 c.2072G>C c.(2071-2073)CGG>CCG p.R691P NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 691 Domain III. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 TTATCAAAACGGGTGAGAAAA 0.294 NA 15 34 0 0 0.004007 0 0 GALNTL2 117248 broad.mit.edu 37 3 16254145 16254145 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:16254145G>T uc003car.3 + 6 1742 c.1267G>T c.(1267-1269)GAT>TAT p.D423Y GALNTL2_uc003caq.3_Missense_Mutation_p.D156Y NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 423 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CCAAAATCAGGATTCCCATTC 0.537 NA 53 111 3.19069e-20 4.11431e-20 0.01441 1 0 SLC4A7 9497 broad.mit.edu 37 3 27490147 27490147 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:27490147G>C uc003cdv.2 - 3 328 c.257C>G c.(256-258)TCT>TGT p.S86C SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S91C|SLC4A7_uc011aww.1_Missense_Mutation_p.S95C|SLC4A7_uc011awx.1_Missense_Mutation_p.S95C|SLC4A7_uc011awy.1_Missense_Mutation_p.S91C|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S91C|SLC4A7_uc011axb.1_Missense_Mutation_p.S95C|SLC4A7_uc010hfm.2_Missense_Mutation_p.S91C|SLC4A7_uc003cdw.2_Missense_Mutation_p.S86C NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 86 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CTTACCATAAGAAGGAGATTC 0.353 NA 17 116 0 0 0.00499 0 0 TTC21A 199223 broad.mit.edu 37 3 39178787 39178787 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:39178787G>T uc003cjc.2 + 25 3557 c.3380G>T c.(3379-3381)CGG>CTG p.R1127L TTC21A_uc003cje.2_Missense_Mutation_p.R1128L|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R1079L|TTC21A_uc003cjf.2_Missense_Mutation_p.R248L NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 1127 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACCCAGCTGCGGCTGCTGCAG 0.612 NA 22 22 6.38683e-12 7.56386e-12 0.008361 1 0 CCRL2 9034 broad.mit.edu 37 3 46450373 46450373 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:46450373C>G uc003cpp.3 + 2 1088 c.803C>G c.(802-804)TCC>TGC p.S268C CCRL2_uc010hjg.2_Missense_Mutation_p.S280C|CCRL2_uc010hjf.2_Missense_Mutation_p.S268C NM_003965 NP_003956 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 isoform 1 268 Extracellular (Potential). chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) GAACACTTCTCCCTGAGTGAC 0.463 NA 11 584 0 0 0.008291 0 0 CDC25A 993 broad.mit.edu 37 3 48207217 48207217 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:48207217G>C uc003csh.1 - 12 1464 c.1100C>G c.(1099-1101)TCT>TGT p.S367C CDC25A_uc003csi.1_Missense_Mutation_p.S327C NM_001789 NP_001780 P30304 MPIP1_HUMAN cell division cycle 25A isoform a 367 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|kidney(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ATTCAAAACAGATGCCATCTG 0.423 NA 31 119 0 0 0.007291 0 0 DNAH1 25981 broad.mit.edu 37 3 52416404 52416404 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:52416404T>A uc011bef.1 + 50 8135 c.7874T>A c.(7873-7875)GTG>GAG p.V2625E DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2625 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGAGATGATGTGAAGAAGGTC 0.572 NA 4 170 0 0 0.009096 0 0 ROBO2 6092 broad.mit.edu 37 3 77600017 77600017 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:77600017G>T uc003dpy.3 + 8 1751 c.1108G>T c.(1108-1110)GTG>TTG p.V370L ROBO2_uc003dpz.2_Missense_Mutation_p.V374L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V374L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 370 Ig-like C2-type 4.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TAGATGCTCAGTGTCACCAAC 0.443 NA 48 62 4.85424e-44 6.75972e-44 0.01441 1 0 HTR1F 3355 broad.mit.edu 37 3 88040798 88040798 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:88040798G>A uc003dqr.2 + 2 1057 c.899G>A c.(898-900)GGT>GAT p.G300D NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 300 Helical; Name=6; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TTAATCTTGGGTGCATTTGTA 0.368 NA 6 36 0 0 0.001984 0 0 OR5K4 403278 broad.mit.edu 37 3 98073318 98073318 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:98073318A>G uc011bgv.1 + 1 621 c.621A>G c.(619-621)CAA>CAG p.Q207Q NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TACCAATTCAAATCTTTACCA 0.338 NA 4 75 0 0 0.009096 0 0 CBLB 868 broad.mit.edu 37 3 105378032 105378032 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:105378032G>A uc003dwc.2 - 19 3053 c.2731C>T c.(2731-2733)CGC>TGC p.R911C CBLB_uc003dwa.2_Missense_Mutation_p.R126C|CBLB_uc011bhi.1_Missense_Mutation_p.R889C NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 911 Pro-rich.|Interaction with SH3KBP1. R->A: Reduced interaction with CD2AP and with SH3KBP1. Strongly reduced interaction with CD2AP; when associated with A-907. Strongly reduced interaction with SH3KBP1; when associated with A-904.|R -> C (in Ref. 7; CAH56175). cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GCAGTCCTGCGCGGTCGTGGT 0.453 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 8 106 0 0 0.004482 0 0 MYH15 22989 broad.mit.edu 37 3 108219032 108219032 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:108219032C>G uc003dxa.1 - 5 546 c.489G>C c.(487-489)AAG>AAC p.K163N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 163 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTGATCGCCTCTTCCCTTTGT 0.463 NA 41 31 0 0 0.009718 0 0 ZNF80 7634 broad.mit.edu 37 3 113955524 113955524 + Missense_Mutation SNP T T C rs143330045 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:113955524T>C uc010hqo.2 - 1 902 c.398A>G c.(397-399)TAT>TGT p.Y133C ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 133 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GCTGCACTCATAGGGCTTCTC 0.537 GBM(23;986 1114 21716) NA 8 83 0 0 0.00308 0 0 ZBTB20 26137 broad.mit.edu 37 3 114057870 114057870 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:114057870C>A uc003ebi.2 - 5 2388 c.2208G>T c.(2206-2208)ATG>ATT p.M736I ZBTB20_uc003ebj.2_Missense_Mutation_p.M663I|ZBTB20_uc010hqp.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebk.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebl.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebm.2_Missense_Mutation_p.M663I|ZBTB20_uc003ebn.2_Missense_Mutation_p.M663I NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 736 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CAGACACATGCATCCTCATGT 0.453 NSCLC(69;748 1344 9802 11203 30933) NA 40 73 3.68427e-32 4.99735e-32 0.010771 1 0 TMEM39A 55254 broad.mit.edu 37 3 119155826 119155826 + Splice_Site SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:119155826C>G uc003eck.1 - 7 1288 c.925_splice c.e7-1 p.S309_splice TMEM39A_uc003ecl.1_Splice_Site_p.S157_splice NM_018266 NP_060736 Q9NV64 TM39A_HUMAN transmembrane protein 39A integral to membrane ovary(1)|breast(1) 2 GBM - Glioblastoma multiforme(114;0.244) ACTGGGTACTCTGGAAGAGAT 0.473 NA 47 169 0 0 0.013114 0 0 ILDR1 286676 broad.mit.edu 37 3 121712504 121712504 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:121712504C>A uc003ees.2 - 7 1198 c.1092G>T c.(1090-1092)CTG>CTT p.L364L ILDR1_uc003eeq.2_Silent_p.L332L|ILDR1_uc003eer.2_Silent_p.L320L|ILDR1_uc010hrg.2_Silent_p.L275L NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 364 Cytoplasmic (Potential). cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) TCCCCTCCCTCAGATCCCAGG 0.597 NA 16 77 2.32078e-09 2.66008e-09 0.003163 1 0 HEG1 57493 broad.mit.edu 37 3 124739860 124739860 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:124739860A>T uc003ehs.3 - 4 1096 c.1028T>A c.(1027-1029)CTG>CAG p.L343Q HEG1_uc011bke.1_Missense_Mutation_p.L343Q NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 343 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 CAAAGATCGCAGCGTTCTCGG 0.532 NA 5 27 0 0 0.001168 0 0 COL6A6 131873 broad.mit.edu 37 3 130287011 130287011 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:130287011G>C uc010htl.2 + 5 1995 c.1964G>C c.(1963-1965)GGA>GCA p.G655A NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 655 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TCTCAGATTGGACCAGATCGG 0.418 NA 50 202 0 0 0.01441 0 0 EPHB1 2047 broad.mit.edu 37 3 134873067 134873067 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:134873067G>A uc003eqt.2 + 6 1591 c.1371G>A c.(1369-1371)CCG>CCA p.P457P EPHB1_uc003equ.2_Silent_p.P18P NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 457 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGCCACAGCCGGAGCAGCCCA 0.557 NA 4 219 0 0 0.009096 0 0 PIK3CB 5291 broad.mit.edu 37 3 138375084 138375084 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:138375084A>G uc011bmq.1 - 21 2975 c.2975T>C c.(2974-2976)ATT>ACT p.I992T PIK3CB_uc011bmn.1_Missense_Mutation_p.I504T|PIK3CB_uc011bmo.1_Missense_Mutation_p.I443T|PIK3CB_uc011bmp.1_Missense_Mutation_p.I579T|PIK3CB_uc003est.1_5'Flank NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 992 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CCGTCGTAAAATCAGATATGC 0.458 NA 12 41 0 0 0.016723 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277665 140277665 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:140277665C>T uc003etn.2 + 12 2197 c.2007C>T c.(2005-2007)GCC>GCT p.A669A NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 669 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GCACCTTCGCCAAAACCGAAG 0.532 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 35 89 0 0 0.017118 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567171 142567171 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:142567171A>T uc003evd.2 - 3 532 c.336T>A c.(334-336)CCT>CCA p.P112P NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 112 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 CAAGGGCTCCAGGCCGGAAAG 0.547 NA 51 94 0 0 0.01441 0 0 ZIC4 84107 broad.mit.edu 37 3 147108910 147108910 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:147108910C>T uc003ewd.1 - 4 1085 c.812G>A c.(811-813)TGC>TAC p.C271Y ZIC4_uc003ewc.1_Missense_Mutation_p.C201Y|ZIC4_uc011bno.1_Missense_Mutation_p.C321Y NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 271 C2H2-type 5. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCACTTGTCGCAGCCCCGCAC 0.637 NA 18 44 0 0 0.016522 0 0 ZIC4 84107 broad.mit.edu 37 3 147108987 147108987 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:147108987G>T uc003ewd.1 - 4 1008 c.735C>A c.(733-735)TTC>TTA p.F245L ZIC4_uc003ewc.1_Missense_Mutation_p.F175L|ZIC4_uc011bno.1_Missense_Mutation_p.F295L NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 245 C2H2-type 4. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TGCTGTTGGCGAAGCGCCGCT 0.612 NA 22 34 2.27525e-19 2.9147e-19 0.021523 1 0 AGTR1 185 broad.mit.edu 37 3 148459426 148459426 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:148459426C>A uc003ewg.2 + 4 1050 c.604C>A c.(604-606)CTG>ATG p.L202M AGTR1_uc003ewh.2_Missense_Mutation_p.L202M|AGTR1_uc003ewi.2_Missense_Mutation_p.L202M|AGTR1_uc003ewj.2_Missense_Mutation_p.L202M|AGTR1_uc003ewk.2_Missense_Mutation_p.L202M NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 202 Helical; Name=5; (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CAAAAATATACTGGGTTTCCT 0.373 NA 16 63 4.7546e-09 5.42592e-09 0.004007 1 0 SI 6476 broad.mit.edu 37 3 164712076 164712076 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:164712076C>T uc003fei.2 - 41 4872 c.4810G>A c.(4810-4812)GGT>AGT p.G1604S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1604 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACAGTGCCACCATTAGCATGA 0.338 NA HNSCC(35;0.089) 16 77 0 0 0.004007 0 0 ZBBX 79740 broad.mit.edu 37 3 167078466 167078466 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:167078466G>T uc003fep.2 - 7 642 c.319C>A c.(319-321)CAA>AAA p.Q107K ZBBX_uc011bpc.1_Missense_Mutation_p.Q107K|ZBBX_uc003feq.2_Missense_Mutation_p.Q78K NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 107 intracellular zinc ion binding ovary(2) 2 TATTTACCTTGAATCTGTTCC 0.269 NA 7 18 0.000157383 0.000165845 0.00308 1 0 SEC62 7095 broad.mit.edu 37 3 169693437 169693437 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:169693437G>T uc003fgg.2 + 2 109 c.78G>T c.(76-78)AAG>AAT p.K26N SEC62_uc003fgh.2_Missense_Mutation_p.K26N NM_003262 NP_003253 Q99442 SEC62_HUMAN translocation protein 1 26 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity ovary(1) 1 CTGTGGCCAAGTATCTTCGAT 0.353 NA 35 72 6.97489e-18 8.76332e-18 0.021022 1 0 SLC7A14 57709 broad.mit.edu 37 3 170216672 170216672 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:170216672C>A uc003fgz.2 - 4 859 c.543G>T c.(541-543)GGG>GGT p.G181G CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 181 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTTCACCTTTCCCTAGAGAGG 0.488 NA 22 61 1.96292e-10 2.26313e-10 0.010504 1 0 NLGN1 22871 broad.mit.edu 37 3 173993231 173993231 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:173993231T>C uc003fio.1 + 5 1196 c.773T>C c.(772-774)TTT>TCT p.F258S NLGN1_uc010hww.1_Missense_Mutation_p.F298S|NLGN1_uc003fip.1_Missense_Mutation_p.F258S NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 275 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATCACTGTTTTTGGATCTGGT 0.428 NA 70 89 0 0 0.01441 0 0 SENP2 59343 broad.mit.edu 37 3 185329518 185329518 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:185329518T>C uc003fpn.2 + 8 973 c.802T>C c.(802-804)TTT>CTT p.F268L SENP2_uc011brv.1_Missense_Mutation_p.F258L|SENP2_uc011brw.1_Missense_Mutation_p.F81L NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 268 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AACAACTCAGTTTGTTCCAAA 0.378 NA 3 71 0 0 0.004672 0 0 C3orf65 646600 broad.mit.edu 37 3 185431229 185431229 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:185431229T>C uc003fpr.2 + 1 190 c.14T>C c.(13-15)CTA>CCA p.L5P IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_RNA NR_027317 RecName: Full=Putative uncharacterized protein C3orf65; 0 all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GCAACACCACTAGATAACTGT 0.458 NA 13 64 0 0 0.016723 0 0 HRG 3273 broad.mit.edu 37 3 186395193 186395193 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:186395193C>T uc003fqq.2 + 7 1122 c.1099C>T c.(1099-1101)CAT>TAT p.H367Y NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 367 His/Pro-rich (HRR). 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) acaccatccccatgcacacca 0.095 NA 5 21 0 0 0.014758 0 0 LPP 4026 broad.mit.edu 37 3 188202445 188202445 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:188202445A>T uc003frs.1 + 4 505 c.259A>T c.(259-261)AAC>TAC p.N87Y LPP_uc011bsg.1_Missense_Mutation_p.N87Y|LPP_uc011bsi.1_Missense_Mutation_p.N87Y|LPP_uc003frt.2_Missense_Mutation_p.N87Y NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 87 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TATCTCTGGAAACTTTCCTCC 0.413 NA T HMGA2|MLL|C12orf9 lipoma|leukemia 51 290 0 0 0.01441 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307157 2307157 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:2307157C>T uc003gex.1 - 8 1229 c.910G>A c.(910-912)GCT>ACT p.A304T ZFYVE28_uc011bvk.1_Missense_Mutation_p.A234T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A274T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A190T NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 304 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GCCAGGGCAGCGGGTCCCTGC 0.657 NA 43 63 0 0 0.00874 0 0 MSX1 4487 broad.mit.edu 37 4 4864774 4864774 + Nonsense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:4864774C>A uc003gif.2 + 2 1051 c.816C>A c.(814-816)TAC>TAA p.Y272* NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 266 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCGCTCTACGGTGCCTCTG 0.706 NA 7 25 5.18039e-06 5.60197e-06 0.00308 1 0 WFS1 7466 broad.mit.edu 37 4 6303098 6303099 + Missense_Mutation DNP GG GG TT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:6303098_6303099GG>TT uc003giy.2 + 8 1742_1743 c.1576_1577GG>TT c.(1576-1578)GGC>TTC p.G526F WFS1_uc003gix.2_Missense_Mutation_p.G526F|WFS1_uc003giz.2_Missense_Mutation_p.G344F NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 526 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GAATTTCAAGGGCACCTACTGC 0.604 NA 24 156 0 0 0.004672 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677973 25677973 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:25677973G>T uc003grr.2 + 13 1756 c.1675G>T c.(1675-1677)GGG>TGG p.G559W SLC34A2_uc003grs.2_Missense_Mutation_p.G558W|SLC34A2_uc010iev.2_Missense_Mutation_p.G558W NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 559 Helical; Name=M8; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GGTTGGTGTCGGGGTTCCCGT 0.597 NA 30 126 1.61788e-16 2.01336e-16 0.012213 1 0 ARAP2 116984 broad.mit.edu 37 4 36149346 36149346 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:36149346T>G uc003gsq.1 - 18 3361 c.3023A>C c.(3022-3024)GAA>GCA p.E1008A NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1008 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGTTAAGTTTTCAGCAAATAA 0.368 NA 5 57 0 0 0.014758 0 0 LIMCH1 22998 broad.mit.edu 37 4 41687737 41687737 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:41687737G>C uc003gvu.3 + 23 2880 c.2826G>C c.(2824-2826)CAG>CAC p.Q942H LIMCH1_uc003gvv.3_Missense_Mutation_p.Q942H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Q941H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Q954H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Q865H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Q770H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Q782H|LIMCH1_uc003gvz.3_Missense_Mutation_p.Q1326H|LIMCH1_uc011byu.1_Missense_Mutation_p.Q775H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Q787H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Q775H|LIMCH1_uc011byv.1_Missense_Mutation_p.Q692H|LIMCH1_uc011byw.1_Missense_Mutation_p.Q241H NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 942 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 ATCCATCCCAGAATCAGCAGA 0.428 NA 26 74 0 0 0.004656 0 0 GNPDA2 132789 broad.mit.edu 37 4 44713078 44713078 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:44713078T>C uc003gwy.2 - 5 643 c.486A>G c.(484-486)CTA>CTG p.L162L GNPDA2_uc010iga.2_Silent_p.L128L|GNPDA2_uc011bzb.1_Silent_p.L92L|GNPDA2_uc003gwz.1_Silent_p.L162L NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 162 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 TATCCATTGCTAGAGTCTTTA 0.393 Colon(54;743 1010 7604 16453 19544) NA 41 100 0 0 0.007835 0 0 LNX1 84708 broad.mit.edu 37 4 54327087 54327087 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:54327087C>T uc003hag.3 - 11 2430 c.2174G>A c.(2173-2175)GGC>GAC p.G725D PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.G629D|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 725 cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TAAAAAAGTGCCAGGCCAAGA 0.338 NA 4 144 0 0 0.009096 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181273 57181273 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:57181273G>T uc003hbk.2 + 8 1996 c.1605G>T c.(1603-1605)CGG>CGT p.R535R KIAA1211_uc010iha.2_Silent_p.R528R|KIAA1211_uc011bzz.1_Silent_p.R445R|KIAA1211_uc003hbm.1_Silent_p.R421R NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 535 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CCATGCCCCGGCCCTACACGT 0.642 NA 18 20 7.41877e-09 8.44168e-09 0.012319 1 0 TECRL 253017 broad.mit.edu 37 4 65180482 65180482 + Splice_Site SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:65180482C>A uc003hcv.2 - 5 545 c.436_splice c.e5-1 p.V146_splice TECRL_uc003hcw.2_Splice_Site_p.V146_splice NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CCAAAAACACCTGAAAATAAA 0.328 NA 6 94 5.9392e-07 6.52147e-07 0.001168 1 0 SULT1B1 27284 broad.mit.edu 37 4 70592821 70592821 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:70592821G>C uc003hen.2 - 8 1174 c.876C>G c.(874-876)TTC>TTG p.F292L NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 292 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 TCTCTGTGCGGAATTGAAGTG 0.393 NA 10 126 0 0 0.006214 0 0 MUC7 4589 broad.mit.edu 37 4 71346890 71346890 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:71346890A>C uc011cat.1 + 4 717 c.429A>C c.(427-429)GAA>GAC p.E143D MUC7_uc011cau.1_Missense_Mutation_p.E143D|MUC7_uc003hfj.2_Missense_Mutation_p.E143D|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 143 Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CTTCAAGAGAAAATGTTAACA 0.458 NA 49 261 0 0 0.01441 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149304 73149304 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:73149304G>A uc003hgk.1 - 22 3204 c.3167C>T c.(3166-3168)ACC>ATC p.T1056I NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1056 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGTGGCAGGGTGCTACTGCG 0.463 NSCLC(168;1941 2048 2918 13048 43078) NA 65 129 0 0 0.01441 0 0 CXCL9 4283 broad.mit.edu 37 4 76927399 76927399 + Nonsense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:76927399A>T uc003hjh.1 - 2 132 c.93T>A c.(91-93)TGT>TGA p.C31* NM_002416 NP_002407 Q07325 CXCL9_HUMAN small inducible cytokine B9 precursor 31 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGATGCAGGAACAGCGACCCT 0.428 NA 81 161 0 0 0.01441 0 0 DSPP 1834 broad.mit.edu 37 4 88534203 88534203 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:88534203G>T uc003hqu.2 + 4 985 c.865G>T c.(865-867)GAT>TAT p.D289Y NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 289 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TGGGAAAGAAGATGATCATGA 0.428 NA 17 52 6.94344e-10 7.97022e-10 0.006122 1 0 FAM190A 401145 broad.mit.edu 37 4 91230336 91230336 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:91230336G>T uc003hsv.3 + 2 1241 c.901G>T c.(901-903)GCT>TCT p.A301S FAM190A_uc003hsu.3_Missense_Mutation_p.A301S|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A301S NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 301 large_intestine(1)|ovary(1) 2 CCTCAATTCTGCTGCTGTTAC 0.433 NA 66 181 4.46356e-37 6.1286e-37 0.01441 1 0 EMCN 51705 broad.mit.edu 37 4 101344211 101344211 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:101344211C>T uc003hvr.2 - 7 714 c.535G>A c.(535-537)GCA>ACA p.A179T EMCN_uc011cel.1_Missense_Mutation_p.A166T|EMCN_uc011cem.1_Intron NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 179 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) GAAGTGCTTGCATTTTTTCCA 0.418 NA 17 53 0 0 0.006122 0 0 EEF1A1P9 441032 broad.mit.edu 37 4 106406218 106406218 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:106406218G>A uc003hxt.1 + 1 356 c.226G>A c.(226-228)GAA>AAA p.E76K NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 TGGTGAATTTGAAGCTGGTAT 0.468 NA 14 28 0 0 0.020292 0 0 DKK2 27123 broad.mit.edu 37 4 107845748 107845748 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:107845748T>A uc003hyi.2 - 3 1188 c.483A>T c.(481-483)GGA>GGT p.G161G DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.G161G NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 161 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GATTCTGCCATCCCAAGTCAT 0.418 NA 45 148 0 0 0.013114 0 0 LEF1 51176 broad.mit.edu 37 4 109088767 109088767 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:109088767T>C uc003hyt.1 - 1 812 c.157A>G c.(157-159)ATC>GTC p.I53V LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.I53V|LEF1_uc003hyv.1_Missense_Mutation_p.I53V|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 53 CTNNB1-binding (By similarity). canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GAAGACTTGATGTCAGCTAAA 0.587 NA 36 143 0 0 0.021022 0 0 ENPEP 2028 broad.mit.edu 37 4 111436540 111436540 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:111436540C>T uc003iab.3 + 8 1793 c.1451C>T c.(1450-1452)TCT>TTT p.S484F NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 484 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAGGGATCTTCTATTTTGAGA 0.299 NA 20 53 0 0 0.00632 0 0 C4orf21 55345 broad.mit.edu 37 4 113461166 113461166 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:113461166C>T uc003iau.2 - 27 6236 c.6025G>A c.(6025-6027)GTA>ATA p.V2009I C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.V467I NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 831 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTTGTCCTTACACAGGACAGA 0.403 NA 5 32 0 0 0.014758 0 0 NDST4 64579 broad.mit.edu 37 4 115997379 115997379 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:115997379C>T uc003ibu.2 - 2 1493 c.814G>A c.(814-816)GGC>AGC p.G272S NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 272 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGTTGTTGCCAAAAAGTACT 0.448 NA 40 139 0 0 0.00623 0 0 KIAA1109 84162 broad.mit.edu 37 4 123165092 123165092 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:123165092C>T uc003ieh.2 + 29 4871 c.4826C>T c.(4825-4827)CCA>CTA p.P1609L KIAA1109_uc003iek.2_Missense_Mutation_p.P228L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1609 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTGGATCAACCAGTGTCCCAG 0.408 NA 14 91 0 0 0.016723 0 0 MFSD8 256471 broad.mit.edu 37 4 128842683 128842683 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:128842683G>A uc003ifp.2 - 12 1509 c.1346C>T c.(1345-1347)CCT>CTT p.P449L MFSD8_uc011cgu.1_Missense_Mutation_p.P404L|MFSD8_uc011cgv.1_3'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 449 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 GCTTACCTGAGGTTTTGGTCC 0.378 NA 33 62 0 0 0.013726 0 0 PRMT10 90826 broad.mit.edu 37 4 148559746 148559746 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:148559746T>C uc003ilc.2 - 12 2617 c.2475A>G c.(2473-2475)GGA>GGG p.G825G PRMT10_uc003ilb.2_Silent_p.G469G|PRMT10_uc003ild.2_Silent_p.G712G NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 825 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 CAAGTTCCTCTCCCATTTCAA 0.408 NA 36 152 0 0 0.021022 0 0 LRBA 987 broad.mit.edu 37 4 151765810 151765810 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:151765810C>G uc010ipj.2 - 27 4935 c.4461G>C c.(4459-4461)AAG>AAC p.K1487N LRBA_uc003ilt.3_Missense_Mutation_p.K146N|LRBA_uc003ilu.3_Missense_Mutation_p.K1487N NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1487 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GTATACTTACCTTCGCTGCAG 0.323 NA 21 45 0 0 0.01892 0 0 ANP32C 23520 broad.mit.edu 37 4 165118750 165118750 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:165118750T>A uc011cjk.1 - 1 114 c.114A>T c.(112-114)ACA>ACT p.T38T MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 38 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CAAATTCATCTGTGAGGGCTT 0.458 NA 52 223 0 0 0.01441 0 0 DDX60L 91351 broad.mit.edu 37 4 169348279 169348279 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:169348279A>T uc003irq.3 - 14 2093 c.1872T>A c.(1870-1872)GTT>GTA p.V624V DDX60L_uc003irr.1_Silent_p.V624V|DDX60L_uc003irs.1_Silent_p.V351V NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 624 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTAACATTTCAACTCCAAATT 0.343 NA 8 14 0 0 0.00308 0 0 FAT1 2195 broad.mit.edu 37 4 187541804 187541804 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:187541804A>C uc003izf.2 - 10 6124 c.5936T>G c.(5935-5937)TTT>TGT p.F1979C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1979 Extracellular (Potential).|Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATCCTGGGTAAACTTTAGGTG 0.453 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 83 267 0 0 0.01441 0 0 TRIML2 205860 broad.mit.edu 37 4 189022242 189022242 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:189022242C>T uc003izl.2 - 3 334 c.298G>A c.(298-300)GAG>AAG p.E100K TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.E150K|TRIML2_uc011clf.1_Missense_Mutation_p.E150K NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 100 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TCCTCTAGCTCGGTGGCAAGC 0.413 NA 16 63 0 0 0.00499 0 0 IRX1 79192 broad.mit.edu 37 5 3600327 3600327 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:3600327C>T uc003jde.2 + 2 1317 c.1265C>T c.(1264-1266)GCA>GTA p.A422V NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 422 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GCCCCGGGGGCACTCAATGGA 0.706 NA 9 19 0 0 0.005443 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190105 5190105 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:5190105C>T uc003jdl.2 + 7 1207 c.1069C>T c.(1069-1071)CAC>TAC p.H357Y ADAMTS16_uc003jdk.1_Missense_Mutation_p.H357Y|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H357Y NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 357 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GATAAGTCACCACGCAGACCA 0.488 NA 87 146 0 0 0.01441 0 0 ADCY2 108 broad.mit.edu 37 5 7690926 7690926 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:7690926G>T uc003jdz.1 + 5 910 c.843G>T c.(841-843)CTG>CTT p.L281L ADCY2_uc011cmo.1_Silent_p.L101L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 281 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCCACAACCTGTATGTGAAGC 0.557 NA 27 83 1.17739e-12 1.40928e-12 0.005443 1 0 ADCY2 108 broad.mit.edu 37 5 7727285 7727285 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:7727285C>T uc003jdz.1 + 14 1849 c.1782C>T c.(1780-1782)GCC>GCT p.A594A ADCY2_uc011cmo.1_Silent_p.A414A NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 594 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AGTACCGGGCCACGGCACTGC 0.507 NA 9 224 0 0 0.004482 0 0 BASP1 10409 broad.mit.edu 37 5 17275998 17275998 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:17275998G>A uc003jfx.2 + 2 852 c.673G>A c.(673-675)GTG>ATG p.V225M NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 225 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 AACCGTAACCGTGAAAGAGTG 0.423 NA 12 62 0 0 0.003163 0 0 RXFP3 51289 broad.mit.edu 37 5 33937437 33937437 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:33937437C>A uc003jic.1 + 1 949 c.592C>A c.(592-594)CGG>AGG p.R198R NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 198 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 AGGACACGGCCGGGGCGACTG 0.672 NA 42 64 2.61675e-31 3.53104e-31 0.013114 1 0 HMGCS1 3157 broad.mit.edu 37 5 43297159 43297159 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:43297159T>C uc003jnr.3 - 5 891 c.684A>G c.(682-684)GCA>GCG p.A228A HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Silent_p.A228A NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 228 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 AGCGGTCTAATGCACTGAGGT 0.413 NA 65 174 0 0 0.01441 0 0 ITGA1 3672 broad.mit.edu 37 5 52204758 52204758 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:52204758A>T uc003jou.2 + 13 1538 c.1486A>T c.(1486-1488)ACA>TCA p.T496S ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.T27S NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 496 Extracellular (Potential).|FG-GAP 5. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TATTTTAACAACAACTGACAT 0.383 NA 48 85 0 0 0.01441 0 0 ITGA2 3673 broad.mit.edu 37 5 52351515 52351515 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:52351515A>G uc003joy.2 + 8 1070 c.927A>G c.(925-927)ATA>ATG p.I309M ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.I233M|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 309 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGTTTGGCATAGCAGTAAGTG 0.398 NA 24 151 0 0 0.014323 0 0 FST 10468 broad.mit.edu 37 5 52779455 52779455 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:52779455G>A uc003jpd.2 + 3 426 c.399G>A c.(397-399)GGG>GGA p.G133G FST_uc003jpc.2_Silent_p.G133G NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 133 Kazal-like 1. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CAGTCTGCGGGCTGGATGGGA 0.512 NA 26 61 0 0 0.01892 0 0 F2RL1 2150 broad.mit.edu 37 5 76128923 76128923 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:76128923T>A uc003keo.2 + 2 666 c.491T>A c.(490-492)CTC>CAC p.L164H NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 164 Helical; Name=3; (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TGTTCCATTCTCTTCATGACC 0.468 NA 72 237 0 0 0.01441 0 0 ARSB 411 broad.mit.edu 37 5 78135202 78135202 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:78135202G>A uc003kfq.2 - 6 2476 c.1190C>T c.(1189-1191)CCG>CTG p.P397L ARSB_uc003kfr.3_Missense_Mutation_p.P397L NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 397 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CACGAAGTTCGGGTCAATATT 0.428 Melanoma(169;563 1968 25780 26156 52266) NA 24 84 0 0 0.004656 0 0 BHMT 635 broad.mit.edu 37 5 78426781 78426781 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:78426781C>A uc003kfu.3 + 8 1168 c.1063C>A c.(1063-1065)CTT>ATT p.L355I BHMT_uc011cti.1_Missense_Mutation_p.L202I NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 355 protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CTGGGAGAATCTTCGGATAGC 0.502 NA 110 127 1.44639e-49 2.04318e-49 0.01441 1 0 HSPA9 3313 broad.mit.edu 37 5 137909529 137909529 + Missense_Mutation SNP T T C rs138260125 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:137909529T>C uc003ldf.2 - 3 259 c.151A>G c.(151-153)ATC>GTC p.I51V HSPA9_uc011cyw.1_5'UTR NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 51 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GCTCCCTTGATTGCTTCTGAT 0.373 NA 28 23 0 0 0.010818 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209511 140209511 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:140209511A>C uc003lho.2 + 1 1862 c.1835A>C c.(1834-1836)CAG>CCG p.Q612P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.Q612P NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 612 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGAGCTGCAGCCCCCGGCA 0.667 NA 3 94 0 0 0.004672 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481535 140481535 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:140481535G>C uc003lio.2 + 1 1302 c.1302G>C c.(1300-1302)AAG>AAC p.K434N uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 434 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAAAACCAAGTACAACATAA 0.562 NA 40 99 0 0 0.006999 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736176 140736176 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:140736176C>T uc003ljq.1 + 1 1409 c.1409C>T c.(1408-1410)TCC>TTC p.S470F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.S470F NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 470 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGAGCCTCCATCTTATCT 0.507 NA 40 113 0 0 0.006999 0 0 SPINK7 84651 broad.mit.edu 37 5 147693664 147693664 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:147693664T>A uc003lpd.2 + 3 146 c.89T>A c.(88-90)GTG>GAG p.V30E uc003lpb.1_Intron NM_032566 NP_115955 P58062 ISK7_HUMAN serine peptidase inhibitor, Kazal type 7 30 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACACAGGTGGACTGCAGC 0.468 NA 113 115 0 0 0.01441 0 0 TIMD4 91937 broad.mit.edu 37 5 156381703 156381703 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:156381703C>G uc003lwh.2 - 2 180 c.123G>C c.(121-123)CTG>CTC p.L41L TIMD4_uc010jii.2_Silent_p.L41L NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 41 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGATGAGTACAGACAGGGCA 0.527 NA 41 50 0 0 0.009718 0 0 FAF2 23197 broad.mit.edu 37 5 175919294 175919294 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr5:175919294G>A uc003mej.3 + 5 497 c.444G>A c.(442-444)GGG>GGA p.G148G NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 148 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 AGAAATATGGGAGGGCACACC 0.488 NA 13 72 0 0 0.003163 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569979 22569979 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:22569979T>A uc003nds.2 + 1 302 c.175T>A c.(175-177)TAC>AAC p.Y59N NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 59 PWWP. 0 Ovarian(93;0.163) CCTGTTCCCGTACAAGGAGTG 0.617 NA 27 76 0 0 0.005443 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056435 26056435 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:26056435C>T uc003nfw.2 - 1 265 c.222G>A c.(220-222)GAG>GAA p.E74E NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 74 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TGTTGTTTTTCTCCACATCAT 0.537 NA 39 146 0 0 0.01441 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123802 26123802 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:26123802C>G uc003ngk.3 - 1 353 c.331G>C c.(331-333)GCC>CCC p.A111P HIST1H2BC_uc003ngl.2_Missense_Mutation_p.A111P|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 111 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 TCCGACACGGCGTGCTTGGCC 0.587 NA 14 170 0 0 0.016723 0 0 BTN2A3 54718 broad.mit.edu 37 6 26431814 26431814 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:26431814C>A uc011dkl.1 + 6 1762 c.1732C>A c.(1732-1734)CCA>ACA p.P578T BTN2A3_uc011dkm.1_RNA RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor; 0 ACTAGTTGTTCCACAGCTCCC 0.483 NA 86 172 3.27475e-32 4.44957e-32 0.01441 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115128 27115128 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:27115128A>T uc003niz.2 + 1 221 c.221A>T c.(220-222)AAC>ATC p.N74I HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 74 nucleosome assembly nucleosome|nucleus DNA binding 0 GCCCGCGACAACAAGAAGACC 0.647 NA 32 92 0 0 0.012213 0 0 ZNF391 346157 broad.mit.edu 37 6 27368223 27368223 + Nonsense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:27368223C>G uc003njf.1 + 3 592 c.74C>G c.(73-75)TCA>TGA p.S25* NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 GGCCAATTATCAAGGCAAACA 0.418 NA 5 173 0 0 0.001984 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782453 27782453 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:27782453G>T uc003njn.1 - 1 66 c.66C>A c.(64-66)GCC>GCA p.A22A HIST1H2BM_uc003njo.2_5'Flank NM_021066 NP_066544 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 22 nucleosome assembly nucleosome|nucleus DNA binding 0 ACTGAAGCCCGGCCCGAGAAG 0.622 NA 40 56 2.76378e-25 3.64782e-25 0.01441 1 0 OR11A1 26531 broad.mit.edu 37 6 29394899 29394899 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:29394899G>A uc003nmg.2 - 1 611 c.520C>T c.(520-522)CAC>TAC p.H174Y NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGTCAATGTGGTTGGGGCCA 0.547 NA 27 63 0 0 0.021523 0 0 ATF6B 1388 broad.mit.edu 37 6 32087669 32087669 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:32087669G>A uc003nzn.2 - 9 931 c.898C>T c.(898-900)CCA>TCA p.P300S TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.P297S|ATF6B_uc003nzp.1_5'UTR NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 300 Cytoplasmic (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCAGGCCGTGGTAGAGAGGGA 0.607 NA 45 88 0 0 0.01441 0 0 DNAH8 1769 broad.mit.edu 37 6 38867598 38867598 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:38867598G>T uc003ooe.1 + 60 9059 c.8459G>T c.(8458-8460)GGT>GTT p.G2820V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTGCTGGTGGGTGTTGGTGGT 0.353 NA 13 97 0.000151284 0.00016028 0.016723 1 0 ZNF318 24149 broad.mit.edu 37 6 43308638 43308638 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:43308638A>G uc003oux.2 - 9 3463 c.3385T>C c.(3385-3387)TTT>CTT p.F1129L ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1129 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GGAACCAGAAACTCAGAGCCT 0.448 NA 8 129 0 0 0.00308 0 0 CAPN11 11131 broad.mit.edu 37 6 44140984 44140984 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:44140984G>A uc003owt.1 + 7 730 c.692G>A c.(691-693)GGG>GAG p.G231E NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 231 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCATTGTCAGGGGGCAGTACC 0.607 NA OREG0017466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 179 0 0 0.01441 0 0 CDC5L 988 broad.mit.edu 37 6 44371547 44371547 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:44371547C>A uc003oxl.2 + 6 800 c.541C>A c.(541-543)CGT>AGT p.R181S NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 181 Potential. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTTTTCAGACGTCTTGCTGC 0.353 NA 26 40 1.1804e-14 1.44148e-14 0.021523 1 0 GPR115 221393 broad.mit.edu 37 6 47682493 47682493 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:47682493C>T uc003oza.1 + 6 1770 c.1512C>T c.(1510-1512)GTC>GTT p.V504V GPR115_uc003oyz.1_Silent_p.V561V|GPR115_uc003ozb.1_Silent_p.V502V NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 504 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GAATATTGGTCATTTTCCGTA 0.423 GBM(22;431 510 9010 26644 32828) NA 23 452 0 0 0.014323 0 0 DEFB112 245915 broad.mit.edu 37 6 50011359 50011359 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:50011359C>T uc011dws.1 - 2 271 c.271G>A c.(271-273)GAC>AAC p.D91N NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 91 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) TTATTTGGGTCCGTAGGGTCA 0.413 NA 25 106 0 0 0.004656 0 0 C6orf142 90523 broad.mit.edu 37 6 54025173 54025173 + Missense_Mutation SNP T T A rs142613357 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:54025173T>A uc003pcg.3 + 5 806 c.693T>A c.(691-693)GAT>GAA p.D231E C6orf142_uc003pcf.2_Missense_Mutation_p.D755E|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.D766E NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 231 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) AGGCACTAGATGAACCAGCCA 0.383 NA 17 49 0 0 0.00499 0 0 EYS 346007 broad.mit.edu 37 6 66204948 66204948 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:66204948G>T uc011dxu.1 - 4 894 c.356C>A c.(355-357)ACA>AAA p.T119K EYS_uc003peq.2_Missense_Mutation_p.T119K|EYS_uc003per.1_Missense_Mutation_p.T119K|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 119 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ATCTTCCGTTGTGGTATTTTG 0.358 NA 45 120 1.76056e-25 2.33155e-25 0.011902 1 0 BAI3 577 broad.mit.edu 37 6 70071247 70071247 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:70071247T>A uc003pev.3 + 29 4530 c.4082T>A c.(4081-4083)ATG>AAG p.M1361K BAI3_uc010kak.2_Missense_Mutation_p.M1361K|BAI3_uc011dxx.1_Missense_Mutation_p.M567K NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1361 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CAGTTCAATATGAACTTAGAG 0.433 NA 33 141 0 0 0.015359 0 0 SMAP1 60682 broad.mit.edu 37 6 71562317 71562318 + Missense_Mutation DNP GG GG TT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:71562317_71562318GG>TT uc003pfr.2 + 8 987_988 c.739_740GG>TT c.(739-741)GGA>TTA p.G247L SMAP1_uc003pfs.2_Missense_Mutation_p.G220L|SMAP1_uc010kao.2_Missense_Mutation_p.G220L|SMAP1_uc010kap.2_Missense_Mutation_p.G237L NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 247 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 GGACATCTTTGGACCGATGATT 0.455 NA 10 281 0 0 0.004672 0 0 C6orf221 154288 broad.mit.edu 37 6 74072525 74072525 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:74072525G>A uc003pgt.3 + 1 126 c.73G>A c.(73-75)GGT>AGT p.G25S NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 25 skin(2) 2 GGAGGTGCTCGGTCACCTCCC 0.577 NA 22 78 0 0 0.010504 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228549 74228549 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:74228549T>C uc003phi.2 - 4 681 c.644A>G c.(643-645)AAA>AGA p.K215R EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.K205R|EEF1A1_uc003phf.2_Missense_Mutation_p.K215R|EEF1A1_uc003phg.2_Missense_Mutation_p.K215R|EEF1A1_uc003phh.2_Missense_Mutation_p.K61R|EEF1A1_uc003phj.2_Missense_Mutation_p.K215R|EEF1A1_uc003phk.2_Missense_Mutation_p.K215R|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 215 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 ACGGGTGACTTTCCATCCCTT 0.502 NA OREG0003895|OREG0003891 type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 51 0 0 0.010818 0 0 IMPG1 3617 broad.mit.edu 37 6 76728444 76728444 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:76728444G>A uc003pik.1 - 7 928 c.798C>T c.(796-798)TCC>TCT p.S266S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 266 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTGAAGTTGGGACTTTCCTG 0.547 Pancreas(37;839 1141 2599 26037) NA 27 153 0 0 0.00632 0 0 TBX18 9096 broad.mit.edu 37 6 85446428 85446428 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:85446428G>C uc003pkl.1 - 8 1799 c.1799C>G c.(1798-1800)TCT>TGT p.S600C TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 600 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGATACTTGAGATGATGACAG 0.413 NA 35 58 0 0 0.013726 0 0 ZNF292 23036 broad.mit.edu 37 6 87968870 87968870 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:87968870A>T uc003plm.3 + 8 5564 c.5523A>T c.(5521-5523)TTA>TTT p.L1841F NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1841 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGGAAATTTTAGAAGGCTTAC 0.373 NA 15 31 0 0 0.020292 0 0 GJA10 84694 broad.mit.edu 37 6 90604983 90604983 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:90604983G>T uc011eaa.1 + 1 796 c.796G>T c.(796-798)GTG>TTG p.V266L NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 266 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GAAATATTCTGTGGCCCAGCA 0.413 NA 23 69 5.35356e-11 6.22728e-11 0.016522 1 0 KIAA0776 23376 broad.mit.edu 37 6 96999336 96999336 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:96999336T>A uc003por.2 + 16 1894 c.1846T>A c.(1846-1848)TCA>ACA p.S616T KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 616 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) AAGTAAATTATCAGAAGAAAC 0.299 NA 5 112 0 0 0.014758 0 0 C6orf167 253714 broad.mit.edu 37 6 97597755 97597755 + Nonsense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:97597755C>T uc003ppb.2 - 24 3890 c.3624G>A c.(3622-3624)TGG>TGA p.W1208* C6orf167_uc011eaf.1_Nonsense_Mutation_p.W1168* NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1208 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TGCCAAGGCCCCATTTCTGCT 0.348 NA 14 57 0 0 0.020292 0 0 MCHR2 84539 broad.mit.edu 37 6 100395759 100395759 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:100395759G>A uc003pqh.1 - 3 586 c.271C>T c.(271-273)CAC>TAC p.H91Y MCHR2_uc003pqi.1_Missense_Mutation_p.H91Y NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 91 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCCCATTGGTGAATAAGAAAA 0.483 NA 35 143 0 0 0.013726 0 0 SIM1 6492 broad.mit.edu 37 6 100838954 100838954 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:100838954C>A uc003pqj.3 - 11 1791 c.1584G>T c.(1582-1584)TGG>TGT p.W528C SIM1_uc010kcu.2_Missense_Mutation_p.W528C NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 528 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TATCTTCATCCCAATGACCTC 0.403 NA 20 94 1.10513e-12 1.32481e-12 0.014323 1 0 SIM1 6492 broad.mit.edu 37 6 100897259 100897259 + Missense_Mutation SNP G G A rs438766 TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:100897259G>A uc003pqj.3 - 5 730 c.523C>T c.(523-525)CTC>TTC p.L175F SIM1_uc010kcu.2_Missense_Mutation_p.L175F NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 175 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCACAGGTGAGGCCGGCGTTA 0.622 NA 4 57 0 0 0.014758 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107035616 107035616 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:107035616G>A uc003prj.2 - 7 1405 c.928C>T c.(928-930)CGA>TGA p.R310* RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.R210* NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 310 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) ATGCCCAATCGGTCCATGTTC 0.502 NA 39 75 0 0 0.005524 0 0 HDAC2 3066 broad.mit.edu 37 6 114277837 114277837 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:114277837G>C uc003pwd.1 - 4 586 c.586C>G c.(586-588)CCA>GCA p.P196A HDAC2_uc003pwc.1_Missense_Mutation_p.P72A|HDAC2_uc003pwe.1_Missense_Mutation_p.P72A NM_001527 NP_001518 Q92769 HDAC2_HUMAN histone deacetylase 2 102 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding skin(2)|ovary(1)|central_nervous_system(1) 4 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) TCAAACACTGGACAATCTTCT 0.363 NA 7 55 0 0 0.00308 0 0 THEMIS 387357 broad.mit.edu 37 6 128134623 128134623 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:128134623T>A uc003qbi.2 - 5 1482 c.1163A>T c.(1162-1164)CAG>CTG p.Q388L THEMIS_uc010kfa.2_Missense_Mutation_p.Q291L|THEMIS_uc011ebt.1_Missense_Mutation_p.Q388L|THEMIS_uc010kfb.2_Missense_Mutation_p.Q353L NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 388 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CACCAGAAACTGGTCCCCAAC 0.468 NA 24 81 0 0 0.01892 0 0 NMBR 4829 broad.mit.edu 37 6 142397123 142397123 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:142397123A>T uc003qiu.2 - 3 976 c.835T>A c.(835-837)TGG>AGG p.W279R NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 279 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TTTGGAAACCAACAGAAGATG 0.413 NA 38 59 0 0 0.019004 0 0 HIVEP2 3097 broad.mit.edu 37 6 143080972 143080972 + Nonsense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:143080972G>C uc003qjd.2 - 9 7196 c.6453C>G c.(6451-6453)TAC>TAG p.Y2151* NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 2151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTGGGTTATGGTATAAAGCCC 0.438 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 23 90 0 0 0.016522 0 0 C6orf97 80129 broad.mit.edu 37 6 151894422 151894422 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:151894422C>A uc003qol.2 + 6 977 c.888C>A c.(886-888)AGC>AGA p.S296R NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 296 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGGAAGTGAGCCTCCTGAAGA 0.473 NA 17 47 9.16793e-09 1.04018e-08 0.00499 1 0 MAS1 4142 broad.mit.edu 37 6 160328002 160328002 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:160328002C>G uc003qsz.2 + 1 29 c.15C>G c.(13-15)AAC>AAG p.N5K NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 5 Extracellular (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ATGGGTCAAACGTGACATCAT 0.458 NA 5 135 0 0 0.014758 0 0 PACRG 135138 broad.mit.edu 37 6 163483243 163483243 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:163483243A>C uc003qua.2 + 4 577 c.353A>C c.(352-354)GAA>GCA p.E118A PACRG_uc003qub.2_Missense_Mutation_p.E118A|PACRG_uc003quc.2_Missense_Mutation_p.E118A NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 118 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GGGCTTTGTGAAATGACATTT 0.433 NA 22 104 0 0 0.016522 0 0 TTLL2 83887 broad.mit.edu 37 6 167754837 167754837 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr6:167754837A>T uc003qvs.1 + 3 1537 c.1449A>T c.(1447-1449)GCA>GCT p.A483A TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 483 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CTGAAGCTGCACCTGCCTCCC 0.517 NA 29 112 0 0 0.009535 0 0 DGKB 1607 broad.mit.edu 37 7 14661113 14661113 + Nonsense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:14661113G>A uc003ssz.2 - 14 1364 c.1177C>T c.(1177-1179)CAA>TAA p.Q393* DGKB_uc011jxt.1_Nonsense_Mutation_p.Q374*|DGKB_uc003sta.2_Nonsense_Mutation_p.Q393*|DGKB_uc011jxu.1_Nonsense_Mutation_p.Q392* NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 393 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) ACTGTTGATTGTCTTTCCTGT 0.294 NA 11 21 0 0 0.008291 0 0 C7orf31 136895 broad.mit.edu 37 7 25175779 25175779 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:25175779T>C uc003sxn.1 - 10 2146 c.1585A>G c.(1585-1587)ATT>GTT p.I529V C7orf31_uc003sxm.1_Missense_Mutation_p.I371V NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 529 0 GCTCTAGGAATCCAACCAAGA 0.388 NA 6 224 0 0 0.001984 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236615 26236615 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:26236615T>G uc003sxr.3 - 5 539 c.323A>C c.(322-324)CAT>CCT p.H108P HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.H96P NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 108 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CACAGTTACATGAGCCCCTGG 0.383 NA T ETV1 prostate 44 137 0 0 0.01441 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236626 26236626 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:26236626T>G uc003sxr.3 - 5 528 c.312A>C c.(310-312)AAA>AAC p.K104N HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.K92N NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 104 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 GAGCCCCTGGTTTTCCAGATT 0.393 NA T ETV1 prostate 37 116 0 0 0.00874 0 0 WIPF3 644150 broad.mit.edu 37 7 29928925 29928925 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:29928925A>T uc003taj.1 + 6 1253 c.1253A>T c.(1252-1254)GAC>GTC p.D418V NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 418 ovary(1) 1 TGTGCAGATGACTTCGAGTCT 0.443 NA 11 42 0 0 0.010729 0 0 GHRHR 2692 broad.mit.edu 37 7 31010827 31010827 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:31010827C>G uc003tbx.2 + 5 508 c.460C>G c.(460-462)CTC>GTC p.L154V GHRHR_uc003tbw.1_Missense_Mutation_p.L154V|GHRHR_uc003tby.2_Missense_Mutation_p.L90V|GHRHR_uc003tbz.2_5'UTR NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 154 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) CCTGGTTGCTCTCAGGTTTGT 0.493 NA 2 7 0 0 0.004672 0 0 BMPER 168667 broad.mit.edu 37 7 34091581 34091581 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:34091581G>T uc011kap.1 + 8 899 c.785G>T c.(784-786)AGG>ATG p.R262M NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 262 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TGTACCTGCAGGGTAAGGCAG 0.453 NA 21 85 1.55795e-14 1.89369e-14 0.012319 1 0 POU6F2 11281 broad.mit.edu 37 7 39243834 39243834 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:39243834G>C uc003thb.1 + 3 233 c.191G>C c.(190-192)GGG>GCG p.G64A POU6F2_uc010kxo.2_Missense_Mutation_p.G56A NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 64 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TGAATTCCAGGGGCTAGAGGA 0.473 NA 10 48 0 0 0.020292 0 0 HIP1 3092 broad.mit.edu 37 7 75171247 75171247 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:75171247C>A uc003uds.1 - 29 2984 c.2943G>T c.(2941-2943)ATG>ATT p.M981I HIP1_uc011kfz.1_Missense_Mutation_p.M807I NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 981 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CCTGAGAATCCATCTCTTGGC 0.453 NA T PDGFRB CMML 37 151 2.40579e-17 3.0082e-17 0.00623 1 0 SEMA3C 10512 broad.mit.edu 37 7 80387687 80387687 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:80387687C>T uc003uhj.2 - 15 2165 c.1603G>A c.(1603-1605)GAT>AAT p.D535N SEMA3C_uc011kgw.1_Missense_Mutation_p.D553N NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 535 immune response|response to drug membrane receptor activity ovary(1) 1 GAATGGCCATCCCAGGCGCAA 0.532 NA 9 197 0 0 0.004482 0 0 CACNA2D1 781 broad.mit.edu 37 7 81746386 81746386 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:81746386T>A uc003uhr.1 - 6 756 c.500A>T c.(499-501)CAT>CTT p.H167L NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 167 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AGTAGGAATATGGACTGCTGC 0.423 NA 6 201 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82544499 82544499 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:82544499C>G uc003uhx.2 - 7 13092 c.12803G>C c.(12802-12804)GGA>GCA p.G4268A PCLO_uc003uhv.2_Missense_Mutation_p.G4268A|PCLO_uc010lec.2_Missense_Mutation_p.G1233A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4199 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TATGGTATTTCCTAATGTGCC 0.393 NA 6 24 0 0 0.001168 0 0 TRRAP 8295 broad.mit.edu 37 7 98533224 98533224 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:98533224A>G uc003upp.2 + 28 4246 c.4037A>G c.(4036-4038)GAA>GGA p.E1346G TRRAP_uc011kis.1_Missense_Mutation_p.E1346G|TRRAP_uc003upr.2_Missense_Mutation_p.E1038G NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1346 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGTGAGGCTGAAGATTCAGCT 0.388 NA 38 54 0 0 0.006999 0 0 CYP3A7 1551 broad.mit.edu 37 7 99311132 99311132 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:99311132C>T uc003uru.2 - 9 930 c.825G>A c.(823-825)ATG>ATA p.M275I ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 275 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GAGAGTCAATCATCAGCTGAA 0.433 NA 20 148 0 0 0.014323 0 0 CYP3A4 1576 broad.mit.edu 37 7 99358457 99358457 + Silent SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:99358457A>C uc003urv.1 - 12 1505 c.1401T>G c.(1399-1401)CCT>CCG p.P467P CYP3A4_uc003urw.1_Silent_p.P466P|CYP3A4_uc011kiz.1_Silent_p.P426P|CYP3A4_uc011kja.1_Silent_p.P418P|CYP3A4_uc011kjb.1_Silent_p.P317P NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 467 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTTCTTTACAAGGTTTGAAGG 0.338 NA 68 96 0 0 0.01441 0 0 SLC26A5 375611 broad.mit.edu 37 7 103017307 103017307 + Silent SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:103017307A>T uc003vbz.2 - 19 2225 c.1989T>A c.(1987-1989)ATT>ATA p.I663I SLC26A5_uc003vbt.1_Silent_p.I663I|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.I631I|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 663 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 ATTCTTTTACAATCTGTAATA 0.323 NA 28 100 0 0 0.00632 0 0 RELN 5649 broad.mit.edu 37 7 103155820 103155820 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:103155820C>T uc003vca.2 - 50 8091 c.7931G>A c.(7930-7932)AGA>AAA p.R2644K RELN_uc010liz.2_Missense_Mutation_p.R2644K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2644 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCGTCATGTCTTGGCTGCCA 0.532 NSCLC(146;835 1944 15585 22231 52158) NA 14 62 0 0 0.016723 0 0 PIK3CG 5294 broad.mit.edu 37 7 106524641 106524641 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:106524641C>T uc003vdv.3 + 9 2887 c.2802C>T c.(2800-2802)GGC>GGT p.G934G PIK3CG_uc003vdu.2_Silent_p.G934G|PIK3CG_uc003vdw.2_Silent_p.G934G NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 934 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CCTGTGCAGGCTACTGTGTGG 0.363 NA 102 174 0 0 0.01441 0 0 LAMB4 22798 broad.mit.edu 37 7 107743504 107743504 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:107743504G>A uc010ljo.1 - 10 1249 c.1165C>T c.(1165-1167)CCC>TCC p.P389S LAMB4_uc003vey.2_Missense_Mutation_p.P389S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 389 Laminin EGF-like 2. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CACGCGTAGGGATCTGAGATG 0.597 NA 35 45 0 0 0.019004 0 0 FLNC 2318 broad.mit.edu 37 7 128497383 128497383 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:128497383G>T uc003vnz.3 + 46 7982 c.7773G>T c.(7771-7773)AAG>AAT p.K2591N FLNC_uc003voa.3_Missense_Mutation_p.K2558N NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2591 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCAAGGCCAAGGTCACTGGTG 0.632 NA 4 67 0.00116845 0.00121655 0.001168 1 0 CREB3L2 64764 broad.mit.edu 37 7 137586170 137586170 + Splice_Site SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:137586170T>A uc003vtw.2 - 8 1370 c.975_splice c.e8-1 p.K325_splice CREB3L2_uc003vtx.1_Splice_Site_p.K325_splice|CREB3L2_uc003vtv.2_Splice_Site_p.K262_splice NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 GACTCCACTCTACAAAGGAGG 0.463 NA T FUS fibromyxoid sarcoma 7 81 0 0 0.004482 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713464 138713464 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:138713464C>G uc003vum.1 - 3 756 c.744G>C c.(742-744)AAG>AAC p.K248N NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 248 0 TTTCAAGCATCTTGTGCAGCT 0.403 NA 24 158 0 0 0.01892 0 0 DENND2A 27147 broad.mit.edu 37 7 140301227 140301227 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:140301227C>G uc010lnj.2 - 1 1116 c.971G>C c.(970-972)AGA>ACA p.R324T DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R324T|DENND2A_uc003vvw.2_Missense_Mutation_p.R324T|DENND2A_uc003vvx.2_Missense_Mutation_p.R324T NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 324 ovary(3)|breast(1) 4 Melanoma(164;0.00956) GGATTTCTGTCTCCCGGTCCA 0.378 NA 17 163 0 0 0.006122 0 0 TRPV6 55503 broad.mit.edu 37 7 142570163 142570163 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:142570163G>A uc003wbx.1 - 14 2073 c.1857C>T c.(1855-1857)TGC>TGT p.C619C TRPV6_uc003wbw.1_Silent_p.C405C|TRPV6_uc010lou.1_Silent_p.C490C NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 619 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) ACTCCCGTCCGCAGATCCCGG 0.622 NA 7 58 0 0 0.001984 0 0 KEL 3792 broad.mit.edu 37 7 142640627 142640627 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:142640627A>G uc003wcb.2 - 15 1859 c.1649T>C c.(1648-1650)GTA>GCA p.V550A NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 550 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TGGAAAGACTACCACATGGTC 0.547 NA 25 77 0 0 0.007291 0 0 OR2A14 135941 broad.mit.edu 37 7 143827010 143827010 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:143827010C>A uc011kua.1 + 1 805 c.805C>A c.(805-807)CAG>AAG p.Q269K NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TCCTGAGGAGCAGCAGAAAGT 0.552 NA 100 319 3.21569e-47 4.5181e-47 0.01441 1 0 AGAP3 116988 broad.mit.edu 37 7 150817157 150817157 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:150817157C>T uc003wjg.1 + 8 1056 c.1053C>T c.(1051-1053)CGC>CGT p.R351R AGAP3_uc003wje.1_Silent_p.R123R|AGAP3_uc003wjf.1_Silent_p.R351R|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Silent_p.R531R|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 315 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGGAGCTGCGCATCGAGACCA 0.657 NA 9 87 0 0 0.006214 0 0 CHPF2 54480 broad.mit.edu 37 7 150932245 150932245 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr7:150932245C>A uc003wjr.1 + 2 1888 c.375C>A c.(373-375)GCC>GCA p.A125A CHPF2_uc003wjq.1_Silent_p.A117A NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 125 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 GTACGGTGGCCCATCACTTCC 0.657 NA 44 138 1.7489e-18 2.21867e-18 0.011902 1 0 CSMD1 64478 broad.mit.edu 37 8 2855548 2855548 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:2855548G>T uc011kwk.1 - 54 8755 c.8365C>A c.(8365-8367)CTG>ATG p.L2789M CSMD1_uc011kwj.1_Missense_Mutation_p.L2118M|CSMD1_uc010lrg.2_Missense_Mutation_p.L799M NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2789 Extracellular (Potential).|Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACGTGGGCAGAGGGCTACTC 0.557 NA 12 43 5.50884e-06 5.94075e-06 0.013537 1 0 C8orf80 389643 broad.mit.edu 37 8 27891171 27891171 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:27891171A>G uc003xgm.3 - 14 1798 c.1655T>C c.(1654-1656)GTT>GCT p.V552A NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 552 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) TTTCAGGCAAACAGCTTTCAG 0.408 NA 11 116 0 0 0.008291 0 0 TEX15 56154 broad.mit.edu 37 8 30703478 30703478 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:30703478G>C uc003xil.2 - 1 3056 c.3056C>G c.(3055-3057)ACT>AGT p.T1019S NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1019 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCCTACTTTAGTTATAAGCTG 0.338 NA 60 282 0 0 0.01441 0 0 PLAT 5327 broad.mit.edu 37 8 42046532 42046532 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:42046532C>G uc003xos.2 - 4 382 c.173G>C c.(172-174)CGC>CCC p.R58P PLAT_uc010lxf.1_Intron|PLAT_uc010lxg.1_Missense_Mutation_p.R58P|PLAT_uc003xot.2_Intron|PLAT_uc011lcm.1_Missense_Mutation_p.R58P|PLAT_uc011lcn.1_Missense_Mutation_p.R58P NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 58 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GAGCACAGGGCGCAGCCATGA 0.468 NA 93 510 0 0 0.01441 0 0 PXDNL 137902 broad.mit.edu 37 8 52359614 52359614 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:52359614C>T uc003xqu.3 - 12 1576 c.1475G>A c.(1474-1476)AGT>AAT p.S492N NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 492 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCCAACGAACTGACTGCTTG 0.468 NA 55 215 0 0 0.01441 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853265 53853265 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:53853265C>A uc011ldu.1 + 1 798 c.798C>A c.(796-798)CCC>CCA p.P266P NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 266 Helical; Name=6; (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCTGGACGCCCTACCACCTGA 0.657 NA 4 60 0.00909568 0.00937058 0.009096 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767721 77767721 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:77767721C>A uc003yav.2 + 10 8816 c.8429C>A c.(8428-8430)CCT>CAT p.P2810H ZFHX4_uc003yau.1_Missense_Mutation_p.P2855H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2810H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2810 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAACCACACCTACCACGGAG 0.473 NA HNSCC(33;0.089) 26 54 3.08376e-08 3.46371e-08 0.01892 1 0 LRRCC1 85444 broad.mit.edu 37 8 86042277 86042277 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:86042277A>G uc003ycw.2 + 11 1904 c.1750A>G c.(1750-1752)AAA>GAA p.K584E LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.K285E|LRRCC1_uc003ycx.2_Missense_Mutation_p.K491E|LRRCC1_uc003ycy.2_Missense_Mutation_p.K564E NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 584 Potential. cell division|mitosis centriole|nucleus 0 TCTTGCATTGAAAGAACAGGA 0.358 NA 16 102 0 0 0.006122 0 0 MATN2 4147 broad.mit.edu 37 8 99015950 99015950 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:99015950G>T uc003yic.2 + 8 1497 c.1266G>T c.(1264-1266)GAG>GAT p.E422D MATN2_uc003yib.1_Missense_Mutation_p.E422D|MATN2_uc010mbh.1_Missense_Mutation_p.E381D|MATN2_uc003yid.2_Missense_Mutation_p.E422D|MATN2_uc003yie.1_Missense_Mutation_p.E422D|MATN2_uc010mbi.1_Missense_Mutation_p.E255D NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 422 EGF-like 5. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) ACATGGAGGAGAGCTACTACT 0.577 NA 7 91 2.0095e-06 2.18812e-06 0.001984 1 0 KLF10 7071 broad.mit.edu 37 8 103664623 103664623 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:103664623C>G uc011lhk.1 - 2 193 c.39G>C c.(37-39)GAG>GAC p.E13D KLF10_uc011lhj.1_Missense_Mutation_p.E2D NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 13 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CCATTCTTTCCTCCTATAAAA 0.303 Esophageal Squamous(16;495 519 2144 16528 44005) NA 7 171 0 0 0.001984 0 0 RIMS2 9699 broad.mit.edu 37 8 104927789 104927789 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:104927789A>C uc003yls.2 + 5 1454 c.1213A>C c.(1213-1215)AGT>CGT p.S405R RIMS2_uc003ylp.2_Missense_Mutation_p.S627R|RIMS2_uc003ylw.2_Missense_Mutation_p.S435R|RIMS2_uc003ylq.2_Missense_Mutation_p.S435R|RIMS2_uc003ylr.2_Missense_Mutation_p.S482R|RIMS2_uc003ylt.2_Missense_Mutation_p.S28R|RIMS2_uc003ylu.1_Missense_Mutation_p.S18R|RIMS2_uc003ylv.1_Missense_Mutation_p.S18R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 705 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAAAAAGGAAGTTTAGCTGA 0.323 NA HNSCC(12;0.0054) 6 99 0 0 0.00308 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361663 105361663 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:105361663C>T uc003ylx.1 + 2 932 c.883C>T c.(883-885)CTG>TTG p.L295L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 295 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAACCTGGGGCTGTTTTTCCT 0.488 NA 62 264 0 0 0.01441 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457293 110457293 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:110457293C>A uc003yne.2 + 38 5299 c.5195C>A c.(5194-5196)CCT>CAT p.P1732H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1732 IPT/TIG 9.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATGGAGTGCCTGCCCAGTGC 0.433 NA HNSCC(38;0.096) 150 210 1.13155e-68 1.61886e-68 0.01441 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110504206 110504206 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:110504206T>A uc003yne.2 + 62 10323 c.10219T>A c.(10219-10221)TGG>AGG p.W3407R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3407 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTCAACTCTCTGGCATGCAGC 0.333 NA HNSCC(38;0.096) 6 21 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113275890 113275890 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:113275890A>T uc003ynu.2 - 61 9999 c.9840T>A c.(9838-9840)AGT>AGA p.S3280R CSMD3_uc003yns.2_Missense_Mutation_p.S2482R|CSMD3_uc003ynt.2_Missense_Mutation_p.S3240R|CSMD3_uc011lhx.1_Missense_Mutation_p.S3111R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3280 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTACTTCACCACTCCAGGTAC 0.393 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 67 0 0 0.017118 0 0 CSMD3 114788 broad.mit.edu 37 8 113275989 113275989 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:113275989T>A uc003ynu.2 - 61 9900 c.9741A>T c.(9739-9741)ACA>ACT p.T3247T CSMD3_uc003yns.2_Silent_p.T2449T|CSMD3_uc003ynt.2_Silent_p.T3207T|CSMD3_uc011lhx.1_Silent_p.T3078T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3247 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGTCGAAATTTGTTCCTTCCA 0.453 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 147 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113651001 113651001 + Silent SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:113651001A>G uc003ynu.2 - 21 3609 c.3450T>C c.(3448-3450)TAT>TAC p.Y1150Y CSMD3_uc003yns.2_Silent_p.Y422Y|CSMD3_uc003ynt.2_Silent_p.Y1110Y|CSMD3_uc011lhx.1_Silent_p.Y1046Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1150 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAAATTTCCATAGAGACCAG 0.383 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 90 0 0 0.008361 0 0 EIF3H 8667 broad.mit.edu 37 8 117658741 117658741 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:117658741C>A uc003yoa.2 - 7 956 c.930G>T c.(928-930)CCG>CCT p.P310P EIF3H_uc003yob.2_Silent_p.P324P NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 310 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) TCCTGGCAGGCGGCTGTGGTG 0.552 NA 86 308 1.67174e-50 2.36579e-50 0.01441 1 0 HAS2 3037 broad.mit.edu 37 8 122641020 122641020 + Nonsense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:122641020C>T uc003yph.2 - 2 1099 c.561G>A c.(559-561)TGG>TGA p.W187* NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 187 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity p.W187C(1) HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTTTTCCACCCCATTTTTGCA 0.463 NA 75 326 0 0 0.01441 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134478232 134478232 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:134478232C>A uc003yuk.2 - 6 1237 c.408G>T c.(406-408)TCG>TCT p.S136S ST3GAL1_uc003yum.2_Silent_p.S136S NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 136 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GGCAGCCCACCGACCTCTTCT 0.577 NA 34 114 1.08052e-11 1.27196e-11 0.019004 1 0 FAM135B 51059 broad.mit.edu 37 8 139144901 139144901 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:139144901C>A uc003yuy.2 - 20 4327 c.4156G>T c.(4156-4158)GTG>TTG p.V1386L FAM135B_uc003yux.2_Missense_Mutation_p.V1287L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1386 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAATCCAGCACAGCGATGTGA 0.522 NA HNSCC(54;0.14) 173 229 4.18953e-109 6.03785e-109 0.01441 1 0 FAM135B 51059 broad.mit.edu 37 8 139164526 139164527 + Missense_Mutation DNP CC CC AA TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:139164526_139164527CC>AA uc003yuy.2 - 13 2362_2363 c.2191_2192GG>TT c.(2191-2193)GGA>TTA p.G731L FAM135B_uc003yux.2_Missense_Mutation_p.G632L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G293L|FAM135B_uc003yvb.2_Missense_Mutation_p.G293L NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 731 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCTGTGTGTCCACCCTCTAGG 0.559 NA HNSCC(54;0.14) 31 57 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139268979 139268979 + Silent SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:139268979T>A uc003yuy.2 - 5 492 c.321A>T c.(319-321)GTA>GTT p.V107V FAM135B_uc003yux.2_Silent_p.V8V|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 107 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTTGAAAATCTACTTCACTCA 0.438 NA HNSCC(54;0.14) 4 64 0 0 0.009096 0 0 CPSF1 29894 broad.mit.edu 37 8 145623236 145623236 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:145623236A>G uc003zcj.2 - 20 2081 c.2006T>C c.(2005-2007)CTG>CCG p.L669P NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 669 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) ACTCTTCAGCAGGAACATGGT 0.677 NSCLC(133;1088 1848 27708 34777 35269) NA 18 95 0 0 0.01892 0 0 PTPRD 5789 broad.mit.edu 37 9 8486043 8486043 + Missense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:8486043A>T uc003zkk.2 - 27 3485 c.2774T>A c.(2773-2775)CTT>CAT p.L925H PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L916H|PTPRD_uc003zkm.2_Missense_Mutation_p.L912H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 925 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCTGAGTGAAGGTTTTGAGG 0.478 NA TSP Lung(15;0.13) 23 68 0 0 0.016522 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21011691 21011691 + Nonsense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:21011691G>T uc010miq.1 - 5 433 c.387C>A c.(385-387)TAC>TAA p.Y129* PTPLAD2_uc003zoj.1_Nonsense_Mutation_p.Y92*|PTPLAD2_uc010mir.1_Nonsense_Mutation_p.Y129* NM_001010915 NP_001010915 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain 129 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity skin(1) 1 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TGCTATAAGTGTACCTGAAAG 0.368 NA 10 30 0.00829132 0.00855315 0.008291 1 0 LINGO2 158038 broad.mit.edu 37 9 27949535 27949535 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:27949535G>T uc003zqu.1 - 2 1329 c.1135C>A c.(1135-1137)CAA>AAA p.Q379K LINGO2_uc010mjf.1_Missense_Mutation_p.Q379K|LINGO2_uc003zqv.1_Missense_Mutation_p.Q379K NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 379 LRRCT.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CACATAGGTTGCTGGCCACCA 0.517 NA 30 27 5.77227e-19 7.35847e-19 0.008361 1 0 TAF1L 138474 broad.mit.edu 37 9 32630480 32630480 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:32630480G>T uc003zrg.1 - 1 5188 c.5098C>A c.(5098-5100)CCA>ACA p.P1700T uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1700 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGTTTTTCTGGAGTGGCAGTG 0.463 NA 86 202 1.42954e-44 1.99779e-44 0.01441 1 0 KIF24 347240 broad.mit.edu 37 9 34257209 34257209 + Missense_Mutation SNP T T G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:34257209T>G uc003zua.3 - 11 2516 c.2396A>C c.(2395-2397)CAG>CCG p.Q799P KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 799 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) ATTCGTGAGCTGACCCTCTGG 0.478 NA 69 157 0 0 0.01441 0 0 PIGO 84720 broad.mit.edu 37 9 35092310 35092310 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:35092310A>C uc003zwd.2 - 7 1970 c.1574T>G c.(1573-1575)TTT>TGT p.F525C PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.F88C NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 525 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TTTCCACAGAAAAGGGAGGAA 0.582 NA 69 45 0 0 0.01441 0 0 FRMPD1 22844 broad.mit.edu 37 9 37724227 37724227 + Silent SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:37724227T>C uc004aag.1 + 7 566 c.522T>C c.(520-522)AAT>AAC p.N174N FRMPD1_uc004aah.1_Silent_p.N174N|FRMPD1_uc011lqm.1_5'UTR|FRMPD1_uc011lqn.1_Silent_p.N43N NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 174 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TCCAGGGTAATTCTCTGCTGT 0.299 NA 83 38 0 0 0.01441 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396791 38396791 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:38396791G>T uc004aay.2 + 2 1158 c.1046G>T c.(1045-1047)GGG>GTG p.G349V NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 349 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AGGAAAGTGGGGAACCCCTTT 0.572 NA 59 34 1.93748e-29 2.59655e-29 0.01441 1 0 ZNF658 26149 broad.mit.edu 37 9 40772612 40772612 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:40772612C>A uc004abs.2 - 5 2815 c.2663G>T c.(2662-2664)GGG>GTG p.G888V ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G888V NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 888 C2H2-type 19; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAAGTCTTCCCACAGTCATT 0.453 NA 73 105 1.3009e-50 1.84432e-50 0.01441 1 0 FAM75A6 389730 broad.mit.edu 37 9 43624943 43624943 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:43624943G>T uc011lrb.1 - 4 3773 c.3744C>A c.(3742-3744)CAC>CAA p.H1248Q NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1248 integral to membrane 0 AGTAGAAGAGGTGCCTGTGGT 0.502 NA 8 271 0.000157383 0.000165845 0.00308 1 0 FLJ46321 389763 broad.mit.edu 37 9 84607513 84607513 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:84607513C>T uc004amn.2 + 4 2175 c.2128C>T c.(2128-2130)CTG>TTG p.L710L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 710 integral to membrane 0 CCATGAGTCTCTGTCATTGCT 0.483 NA 37 47 0 0 0.017118 0 0 HNRNPK 3190 broad.mit.edu 37 9 86592668 86592668 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:86592668T>C uc004ang.3 - 4 316 c.92A>G c.(91-93)CAA>CGA p.Q31R HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anf.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anh.3_Missense_Mutation_p.Q31R|HNRNPK_uc011lsx.1_Missense_Mutation_p.Q31R|HNRNPK_uc004ani.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anj.3_Missense_Mutation_p.Q31R|HNRNPK_uc004ann.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anl.3_Missense_Mutation_p.Q31R|HNRNPK_uc004anm.3_Missense_Mutation_p.Q31R|RMI1_uc004anq.3_5'Flank|RMI1_uc004anr.3_5'Flank NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 31 Necessary for interaction with DDX1. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 TTTAAATGCTTGTTCCTCTTC 0.358 NA 17 63 0 0 0.006122 0 0 RMI1 80010 broad.mit.edu 37 9 86617462 86617462 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:86617462C>G uc004anq.3 + 3 1969 c.1561C>G c.(1561-1563)CTC>GTC p.L521V RMI1_uc004anr.3_Missense_Mutation_p.L521V|RMI1_uc004anp.3_Missense_Mutation_p.L521V|RMI1_uc004ans.3_Missense_Mutation_p.L521V NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN RMI1, RecQ mediated genome instability 1, 521 DNA replication nucleus 0 AACTGGAAATCTCTCAAGTTC 0.378 NA 5 242 0 0 0.001168 0 0 SPTLC1 10558 broad.mit.edu 37 9 94794786 94794786 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:94794786C>G uc004arl.1 - 15 1421 c.1383G>C c.(1381-1383)GCG>GCC p.A461A SPTLC1_uc011ltv.1_Missense_Mutation_p.V451L NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 461 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TGATGGTGGACGCAGCTCTCT 0.527 NA 11 111 0 0 0.008291 0 0 COL15A1 1306 broad.mit.edu 37 9 101818644 101818644 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:101818644G>T uc004azb.1 + 35 3501 c.3295G>T c.(3295-3297)GGG>TGG p.G1099W NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1099 Triple-helical region 8 (COL8). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TGGGCCACCGGGGCCCCCGGG 0.622 NA 58 48 5.82218e-30 7.81608e-30 0.01441 1 0 GRIN3A 116443 broad.mit.edu 37 9 104375693 104375693 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:104375693C>A uc004bbp.1 - 6 3332 c.2731G>T c.(2731-2733)GTT>TTT p.V911F GRIN3A_uc004bbq.1_Missense_Mutation_p.V911F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 911 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCACAGGGAACCACCCTGTAC 0.458 NA 27 27 2.48779e-11 2.91544e-11 0.005443 1 0 EPB41L4B 54566 broad.mit.edu 37 9 111947854 111947854 + Missense_Mutation SNP T T C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:111947854T>C uc004bdz.1 - 23 2628 c.2333A>G c.(2332-2334)CAC>CGC p.H778R NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 778 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 ACAGCGAGAGTGGGCACAGTG 0.408 NA 33 20 0 0 0.015359 0 0 CEP110 11064 broad.mit.edu 37 9 123920102 123920102 + Silent SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:123920102A>C uc004bkx.1 + 27 4612 c.4581A>C c.(4579-4581)GCA>GCC p.A1527A CEP110_uc004bla.1_Silent_p.A975A|CEP110_uc010mvo.1_Silent_p.A196A|CEP110_uc004blb.1_Silent_p.A196A|CEP110_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1527 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 AAATTGTAGCAGCAAAAGACT 0.408 NA 42 69 0 0 0.011902 0 0 RABGAP1 23637 broad.mit.edu 37 9 125782613 125782613 + Nonsense_Mutation SNP A A T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:125782613A>T uc011lzh.1 + 13 1803 c.1669A>T c.(1669-1671)AAG>TAG p.K557* RABGAP1_uc004bnl.3_RNA NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 557 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 TGTGAGACCGAAGCAGTTGTC 0.383 NA 48 55 0 0 0.01441 0 0 SURF4 6836 broad.mit.edu 37 9 136230446 136230446 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:136230446C>A uc004cdj.2 - 6 863 c.733G>T c.(733-735)GTG>TTG p.V245L SURF4_uc011mda.1_Missense_Mutation_p.V236L|SURF4_uc010nal.2_3'UTR|SURF4_uc011mdb.1_Missense_Mutation_p.V202L|SURF4_uc011mdc.1_Missense_Mutation_p.V202L|SURF4_uc011mdd.1_3'UTR NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 245 Helical; (Potential). endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) CCCCCAATCACCGACATGGTC 0.532 NA 14 54 2.31682e-05 2.47128e-05 0.003163 1 0 GLRA2 2742 broad.mit.edu 37 X 14627186 14627186 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:14627186C>T uc010nep.2 + 8 1121 c.789C>T c.(787-789)ATC>ATT p.I263I GLRA2_uc010neq.2_Silent_p.I263I|GLRA2_uc004cwe.3_Silent_p.I263I|GLRA2_uc011mio.1_Silent_p.I174I|GLRA2_uc011mip.1_Silent_p.I241I NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 263 Helical; (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) AGATGTACATCCCAAGCCTGC 0.433 NA 21 95 0 0 0.010504 0 0 SYAP1 94056 broad.mit.edu 37 X 16773137 16773137 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:16773137C>T uc004cxp.2 + 6 738 c.645C>T c.(643-645)CTC>CTT p.L215L SYAP1_uc004cxo.2_Silent_p.L215L|SYAP1_uc011miv.1_Silent_p.L181L NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 215 skin(1) 1 Hepatocellular(33;0.0997) CAGCCCAGCTCACGGCCCTGG 0.512 NA 45 41 0 0 0.01441 0 0 SAT1 6303 broad.mit.edu 37 X 23801932 23801932 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:23801932G>A uc004dau.2 + 3 328 c.134G>A c.(133-135)GGT>GAT p.G45D SAT1_uc010nfv.2_Missense_Mutation_p.G45D|SAT1_uc004dav.2_RNA NM_002970 NP_002961 P21673 SAT1_HUMAN diamine N-acetyltransferase 1 45 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding 0 Spermine(DB00127) CTAGAAGATGGTTTTGGAGAG 0.587 NA 34 27 0 0 0.012213 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254960 30254961 + Missense_Mutation DNP TA TA GT TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:30254960_30254961TA>GT uc004dca.1 + 5 1656_1657 c.919_920TA>GT c.(919-921)TAT>GTT p.Y307V NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 307 MAGE. 0 CCAGTTCTGGTATGAAGAGGCT 0.515 NA 18 23 0 0 0.004672 0 0 FAM47C 442444 broad.mit.edu 37 X 37028810 37028810 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:37028810C>A uc004ddl.1 + 1 2341 c.2327C>A c.(2326-2328)CCA>CAA p.P776Q NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 776 ovary(3) 3 CATCTCCACCCAGAGCTTCCC 0.632 NA 12 21 3.27435e-08 3.67252e-08 0.020292 1 0 USP9X 8239 broad.mit.edu 37 X 41000347 41000347 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:41000347A>G uc004dfb.2 + 8 1532 c.899A>G c.(898-900)AAT>AGT p.N300S USP9X_uc004dfc.2_Missense_Mutation_p.N300S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 300 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GAAGCAAAGAATGAAGCCAAA 0.299 Ovarian(172;1807 2695 35459 49286) NA 91 9 0 0 0.01441 0 0 GPR34 2857 broad.mit.edu 37 X 41554925 41554925 + Silent SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:41554925C>G uc004dfp.3 + 3 323 c.39C>G c.(37-39)GTC>GTG p.V13V CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Silent_p.V13V|GPR34_uc010nhg.2_Silent_p.V13V|GPR34_uc004dfr.3_Silent_p.V13V NM_001097579 NP_001091048 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 13 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CAACTTCAGTCAGCAGCTGGC 0.423 NA 8 419 0 0 0.008291 0 0 NDP 4693 broad.mit.edu 37 X 43817789 43817789 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:43817789C>T uc004dga.3 - 2 682 c.103G>A c.(103-105)GAC>AAC p.D35N NM_000266 NP_000257 Q00604 NDP_HUMAN norrin precursor 35 canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception extracellular matrix|extracellular space cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity 0 CGTCGAGGGTCCGAGTCCATT 0.473 NA 11 591 0 0 0.008291 0 0 GPKOW 27238 broad.mit.edu 37 X 48973405 48973405 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:48973405C>T uc004dmr.2 - 6 899 c.892G>A c.(892-894)GAC>AAC p.D298N NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 298 nucleus nucleic acid binding ovary(2) 2 GTGTTCTTGTCAAACTCCTGC 0.567 NA 110 583 0 0 0.01441 0 0 GPKOW 27238 broad.mit.edu 37 X 48973451 48973451 + Silent SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:48973451C>T uc004dmr.2 - 6 853 c.846G>A c.(844-846)GTG>GTA p.V282V NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 282 nucleus nucleic acid binding ovary(2) 2 CACTAACAGTCACCACCCGGC 0.547 NA 172 706 0 0 0.01441 0 0 SYP 6855 broad.mit.edu 37 X 49050789 49050789 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:49050789G>C uc004dmz.1 - 4 273 c.257C>G c.(256-258)ACC>AGC p.T86S SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.T80S NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 86 Vesicular (Potential).|MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) CCCTCGGCAGGTGGGTGCATC 0.582 NA 12 620 0 0 0.016723 0 0 HUWE1 10075 broad.mit.edu 37 X 53641577 53641577 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:53641577T>A uc004dsp.2 - 23 2581 c.2179A>T c.(2179-2181)AGT>TGT p.S727C NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 727 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCATCCTCACTAGAGGCTTCT 0.488 NA 37 37 0 0 0.00623 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964291 73964291 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:73964291G>C uc004eby.2 - 3 718 c.101C>G c.(100-102)GCA>GGA p.A34G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 34 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TGACTTCATTGCCACATCCTG 0.453 NA 6 12 0 0 0.001168 0 0 LPAR4 2846 broad.mit.edu 37 X 78010954 78010954 + Silent SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:78010954C>A uc010nme.2 + 2 993 c.588C>A c.(586-588)GTC>GTA p.V196V NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 196 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 CCAAACGTGTCTGGAAGACTT 0.413 NA 9 27 0.000442599 0.000462664 0.006214 1 0 P2RY10 27334 broad.mit.edu 37 X 78216847 78216847 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:78216847G>C uc004ede.2 + 4 1199 c.830G>C c.(829-831)TGT>TCT p.C277S P2RY10_uc004edf.2_Missense_Mutation_p.C277S NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 277 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 ATTAGCAGTTGTCCCGTTGTC 0.413 NA 72 62 0 0 0.01441 0 0 POU3F4 5456 broad.mit.edu 37 X 82763575 82763575 + Silent SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:82763575G>T uc004eeg.2 + 1 307 c.243G>T c.(241-243)GTG>GTT p.V81V NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 81 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 AGCAGGACGTGAAGCCCGGGC 0.667 NA 7 3 0.00198382 0.00205458 0.001984 1 0 DACH2 117154 broad.mit.edu 37 X 85403695 85403695 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:85403695G>T uc004eew.2 + 1 241 c.71G>T c.(70-72)CGG>CTG p.R24L DACH2_uc004eex.2_Missense_Mutation_p.R24L|DACH2_uc010nmq.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GGCTTATTCCGGGCCGAACCC 0.582 NA 8 7 0.000157383 0.000165845 0.00308 1 0 BHLHB9 80823 broad.mit.edu 37 X 102005310 102005310 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:102005310C>G uc010nog.2 + 4 1958 c.1387C>G c.(1387-1389)CTT>GTT p.L463V BHLHB9_uc011mrq.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrr.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrs.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrt.1_Missense_Mutation_p.L463V|BHLHB9_uc004ejo.2_Missense_Mutation_p.L463V|BHLHB9_uc011mru.1_Missense_Mutation_p.L463V|BHLHB9_uc011mrv.1_Missense_Mutation_p.L463V NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 463 cytoplasm|nucleus binding ovary(2) 2 AACCAGAAATCTTGTTTTGAA 0.363 NA 3 128 0 0 0.004672 0 0 DOCK11 139818 broad.mit.edu 37 X 117788700 117788700 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:117788700T>A uc004eqp.2 + 43 4894 c.4831T>A c.(4831-4833)TAT>AAT p.Y1611N DOCK11_uc004eqq.2_Missense_Mutation_p.Y1390N NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1611 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 AGCCAAGTCCTATGCAAGCAC 0.433 NA 219 38 0 0 0.01441 0 0 ATP1B4 23439 broad.mit.edu 37 X 119504691 119504691 + Missense_Mutation SNP G G T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:119504691G>T uc004esr.2 + 3 534 c.450G>T c.(448-450)AAG>AAT p.K150N ATP1B4_uc004esq.2_Missense_Mutation_p.K146N|ATP1B4_uc011mtx.1_Missense_Mutation_p.K115N|ATP1B4_uc011mty.1_Intron NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 150 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 AGCGGGTAAAGCCTCCTGGTG 0.493 NA 394 121 1.38562e-190 2.0006e-190 0.01441 1 0 THOC2 57187 broad.mit.edu 37 X 122769970 122769970 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:122769970G>C uc004etu.2 - 19 2010 c.1978C>G c.(1978-1980)CTT>GTT p.L660V THOC2_uc011muh.1_Missense_Mutation_p.L585V NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 660 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TACTGAAGAAGACCAGCAAGA 0.333 NA 7 109 0 0 0.001984 0 0 ODZ1 10178 broad.mit.edu 37 X 123631060 123631060 + Silent SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:123631060G>C uc004euj.2 - 20 3565 c.3501C>G c.(3499-3501)GTC>GTG p.V1167V ODZ1_uc011muj.1_Silent_p.V1166V|ODZ1_uc010nqy.2_Silent_p.V1167V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1167 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGGTTGATATGACTGGGGGCT 0.423 NA 39 14 0 0 0.005524 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686243 125686243 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:125686243A>G uc004eul.2 - 1 600 c.349T>C c.(349-351)TGT>CGT p.C117R NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 117 skin(3)|ovary(1) 4 AGCGTGTTACACTTGGTGCCG 0.642 NA 31 82 0 0 0.007291 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218650 130218650 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:130218650C>T uc004evz.2 + 6 1144 c.799C>T c.(799-801)CGT>TGT p.R267C ARHGAP36_uc004ewa.2_Missense_Mutation_p.R255C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R236C|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R131C NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 267 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GCAGCGAGTGCGTCAGGTAAA 0.498 NA 22 219 0 0 0.010504 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135829672 135829672 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:135829672G>A uc004fab.2 - 3 791 c.329C>T c.(328-330)ACA>ATA p.T110I ARHGEF6_uc011mwd.1_5'UTR|ARHGEF6_uc011mwe.1_5'UTR NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 110 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) CTTACCTTCTGTTGCTTTGTT 0.403 NA 18 84 0 0 0.008871 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795241 142795241 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:142795241C>T uc004fbz.2 - 2 1191 c.437G>A c.(436-438)GGA>GAA p.G146E NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 146 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGATGA 0.527 NA 82 612 0 0 0.01441 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906014 144906014 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:144906014C>A uc004fcd.2 + 5 3061 c.2071C>A c.(2071-2073)CCT>ACT p.P691T SLITRK2_uc010nsp.2_Missense_Mutation_p.P691T|SLITRK2_uc010nso.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P691T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P691T|SLITRK2_uc011mws.1_Missense_Mutation_p.P691T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P691T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P691T|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 691 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TATCCCCCCACCTGTGGGTCA 0.468 NA 104 40 8.27256e-43 1.14588e-42 0.01441 1 0 CNGA2 1260 broad.mit.edu 37 X 150912021 150912021 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:150912021A>G uc004fey.1 + 7 1270 c.1046A>G c.(1045-1047)GAG>GGG p.E349G NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 349 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAGGATGAGGAGTACCTATTT 0.502 NA 26 229 0 0 0.01892 0 0 GABRA3 2556 broad.mit.edu 37 X 151533027 151533027 + Missense_Mutation SNP T T A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:151533027T>A uc010ntk.1 - 2 256 c.16A>T c.(16-18)ACA>TCA p.T6S NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 6 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGTGACTTGTTTGTGTGATT 0.373 NSCLC(142;2578 2613 10251 16743) NA 34 107 0 0 0.019004 0 0 PNCK 139728 broad.mit.edu 37 X 152938064 152938064 + Missense_Mutation SNP C C A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:152938064C>A uc011myu.1 - 3 592 c.406G>T c.(406-408)GGC>TGC p.G136C PNCK_uc011myt.1_Missense_Mutation_p.G70C|PNCK_uc004fia.2_Missense_Mutation_p.G65C|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.G136C|PNCK_uc011myv.1_Missense_Mutation_p.G80C|PNCK_uc011myw.1_Missense_Mutation_p.G80C NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 53 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCTCCTTGCCCCGGAGGGCC 0.657 NA 27 96 2.12542e-12 2.53241e-12 0.00632 1 0 L1CAM 3897 broad.mit.edu 37 X 153134081 153134081 + Missense_Mutation SNP C C T TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:153134081C>T uc004fjb.2 - 12 1589 c.1481G>A c.(1480-1482)CGC>CAC p.R494H L1CAM_uc004fjc.2_Missense_Mutation_p.R494H|L1CAM_uc010nuo.2_Missense_Mutation_p.R489H|L1CAM_uc004fjd.1_Missense_Mutation_p.R308H NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 494 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGAAGTAGCGTCCGGTGTC 0.552 NA 71 22 0 0 0.01441 0 0 L1CAM 3897 broad.mit.edu 37 X 153135921 153135921 + Missense_Mutation SNP A A C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:153135921A>C uc004fjb.2 - 7 836 c.728T>G c.(727-729)CTC>CGC p.L243R L1CAM_uc004fjc.2_Missense_Mutation_p.L243R|L1CAM_uc010nuo.2_Missense_Mutation_p.L238R|L1CAM_uc004fjd.1_Missense_Mutation_p.L57R|L1CAM_uc004fje.1_Missense_Mutation_p.L238R NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 243 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTGGGGAAGAGCAGGCGCGG 0.607 NA 5 43 0 0 0.001168 0 0 TKTL1 8277 broad.mit.edu 37 X 153553731 153553731 + Missense_Mutation SNP A A G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:153553731A>G uc004fkg.2 + 10 1550 c.1364A>G c.(1363-1365)TAC>TGC p.Y455C TKTL1_uc011mzl.1_Missense_Mutation_p.Y449C|TKTL1_uc011mzm.1_Missense_Mutation_p.Y251C|TKTL1_uc004fkh.2_Missense_Mutation_p.Y399C NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 455 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGGTTATTTACACCCCACAA 0.448 NA 3 147 0 0 0.009096 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4925273 4925273 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrY:4925273C>G uc004fqo.2 + 1 1143 c.409C>G c.(409-411)CAT>GAT p.H137D PCDH11Y_uc010nwg.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fql.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.H126D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.H137D NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 137 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 AAGGGATGAGCATTGCTTTTA 0.408 NA 93 55 0 0 0.01441 0 0 FAM71A 149647 broad.mit.edu 37 1 212799845 212799845 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr1:212799845delG uc001hjk.2 + 1 2030 c.1626delG c.(1624-1626)GTGfs p.V542fs uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 542 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CAAAAGTAGTGGGCACACCAC 0.582 NA 77 125 --- --- --- --- NA NA NA NA NA CNTN5 53942 broad.mit.edu 37 11 99690425 99690425 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr11:99690425delG uc001pga.2 + 4 545 c.206delG c.(205-207)TGGfs p.W69fs CNTN5_uc009ywv.1_Frame_Shift_Del_p.W69fs|CNTN5_uc001pfz.2_Frame_Shift_Del_p.W69fs|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 69 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCACCCAGCTGGCTAGGGGCA 0.383 NA 8 94 --- --- --- --- NA NA NA NA NA KCNA6 3742 broad.mit.edu 37 12 4920328 4920328 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr12:4920328delG uc001qng.2 + 1 1987 c.1121delG c.(1120-1122)AGGfs p.R374fs NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 374 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GCCTCCATGAGGGAGCTGGGG 0.597 NA HNSCC(72;0.22) 16 48 --- --- --- --- NA NA NA NA NA CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 CAT CAT - - CAT CAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr16:30365550_30365552delCAT uc002dxr.2 - 2 423_425 c.170_172delATG c.(169-174)GATGGG>GGG p.D57del CD2BP2_uc002dxs.2_In_Frame_Del_p.D57del NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 CTGGACCCCCCATCATCATCATC 0.532 NA 8 818 --- --- --- --- NA NA NA NA NA IL12RB1 3594 broad.mit.edu 37 19 18194265 18194265 + Frame_Shift_Del DEL G G - rs113524129 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr19:18194265delG uc002nhw.1 - 2 165 c.101delC c.(100-102)CCGfs p.P34fs IL12RB1_uc010xqb.1_Frame_Shift_Del_p.P34fs|IL12RB1_uc002nhx.1_Frame_Shift_Del_p.P74fs|IL12RB1_uc002nhy.2_Frame_Shift_Del_p.P34fs NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 34 Extracellular (Potential). cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 CGGATATGGCGGGTCCTGAAA 0.562 NA 53 119 --- --- --- --- NA NA NA NA NA REG1B 5968 broad.mit.edu 37 2 79314038 79314040 + In_Frame_Del DEL TCT TCT - rs139007123 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 TCT TCT - - TCT TCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr2:79314038_79314040delTCT uc002sny.2 - 3 193_195 c.81_83delAGA c.(79-84)ACAGAG>ACG p.E28del REG1B_uc010ffv.1_In_Frame_Del_p.E28del|REG1B_uc010ffw.2_In_Frame_Del_p.E28del NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 28 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 ATTAGGCAGCTCTGTCTGGGACT 0.493 NA 59 248 --- --- --- --- NA NA NA NA NA RTDR1 27156 broad.mit.edu 37 22 23482595 23482595 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:23482595delG uc002zwt.2 - 2 171 c.13delC c.(13-15)CAGfs p.Q5fs RTDR1_uc010gtv.1_Frame_Shift_Del_p.Q5fs NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 5 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) AAGGAGTTCTGGGAATGGGCC 0.488 NA 7 77 --- --- --- --- NA NA NA NA NA SLC5A1 6523 broad.mit.edu 37 22 32439304 32439304 + Frame_Shift_Del DEL G G - rs148720069 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr22:32439304delG uc003amc.2 + 1 268 c.36delG c.(34-36)GCGfs p.A12fs NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 12 Extracellular (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 AGACCACCGCGGTCACCCGGC 0.597 NA 20 50 --- --- --- --- NA NA NA NA NA COL6A6 131873 broad.mit.edu 37 3 130285632 130285633 + Frame_Shift_Ins INS - - C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:130285632_130285633insC uc010htl.2 + 4 1400_1401 c.1369_1370insC c.(1369-1371)ACGfs p.T457fs NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 457 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGAAATGAAGACGTTCCTGTCA 0.5 NA 27 133 --- --- --- --- NA NA NA NA NA CLSTN2 64084 broad.mit.edu 37 3 140281113 140281113 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:140281113delG uc003etn.2 + 13 2365 c.2175delG c.(2173-2175)CTGfs p.L725fs NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 725 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 AACGACACCTGGATGCCACTA 0.527 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 19 103 --- --- --- --- NA NA NA NA NA COMMD2 51122 broad.mit.edu 37 3 149470067 149470068 + Frame_Shift_Ins INS - - A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr3:149470067_149470068insA uc003exk.2 - 2 121_122 c.74_75insT c.(73-75)GCCfs p.A25fs NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 25 protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCCAAACTCGGCGACCACTGC 0.619 NA 26 168 --- --- --- --- NA NA NA NA NA HELQ 113510 broad.mit.edu 37 4 84376684 84376698 + In_Frame_Del DEL TTTTCCGCCTCCTGT TTTTCCGCCTCCTGT - rs150006112 byFrequency TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 TTTTCCGCCTCCTGT TTTTCCGCCTCCTGT - - TTTTCCGCCTCCTGT TTTTCCGCCTCCTGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr4:84376684_84376698delTTTTCCGCCTCCTGT uc003hom.2 - 1 328_342 c.149_163delACAGGAGGCGGAAAA c.(148-165)AACAGGAGGCGGAAAACC>ACC p.NRRRK50del HELQ_uc010ikb.2_In_Frame_Del_p.NRRRK50del|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_In_Frame_Del_p.NRRRK50del|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_In_Frame_Del_p.NRRRK50del|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 50_54 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 ACGCCCGCGGTTTTCCGCCTCCTGTTCTCAGCCAC 0.6 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function OREG0016254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 232 --- --- --- --- NA NA NA NA NA ZNF623 9831 broad.mit.edu 37 8 144732931 144732931 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr8:144732931delG uc003yzd.2 + 1 978 c.889delG c.(889-891)GGGfs p.G297fs ZNF623_uc011lkp.1_Frame_Shift_Del_p.G257fs|ZNF623_uc003yzc.2_Frame_Shift_Del_p.G257fs NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 297 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAAAGAATGTGGGAAGGCATT 0.453 NA 33 121 --- --- --- --- NA NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139396481 139396482 + Frame_Shift_Ins INS - - C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chr9:139396481_139396482insC uc004chz.2 - 29 5443_5444 c.5443_5444insG c.(5443-5445)GACfs p.D1815fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1815 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGGTCCTCGTCCCCCCACTCA 0.673 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 60 71 --- --- --- --- NA NA NA NA NA OPHN1 4983 broad.mit.edu 37 X 67283757 67283757 + Frame_Shift_Del DEL G G - TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1a09c2f5-cd26-4e6a-8993-c436312fdbb3 28c0bdc9-9dd1-4ce6-9254-e177f58970b8 g.chrX:67283757delG uc004dww.3 - 21 2391 c.2097delC c.(2095-2097)ACCfs p.T699fs OPHN1_uc011mpg.1_Intron NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 699 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 AGGGGGTCTTGGTGGGCCCAG 0.617 NA 8 11 --- --- --- --- NA NA NA NA NA