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 KLHL17 339451 broad.mit.edu 37 1 898278 898278 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:898278G>A uc001aca.1 + 6 1130 c.1023G>A c.(1021-1023)GGG>GGA p.G341G KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Silent_p.G64G NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 341 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGGGGCCGGGCCTGTGCTTT 0.677 NA 6 14 0 0 0.001168 0 0 AGRN 375790 broad.mit.edu 37 1 981168 981168 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:981168G>A uc001ack.1 + 15 2642 c.2592G>A c.(2590-2592)GGG>GGA p.G864G NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 864 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGATGACGGGGCTGTGCTCGT 0.667 NA 20 37 0 0 0.003954 0 0 AGRN 375790 broad.mit.edu 37 1 986125 986125 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:986125C>A uc001ack.1 + 30 5211 c.5161C>A c.(5161-5163)CTG>ATG p.L1721M NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1721 Laminin G-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCCAGTCACCCTGGGAGCCTG 0.711 NA 3 6 0.00909568 0.00941403 0.009096 1 0 KIAA1751 85452 broad.mit.edu 37 1 1887107 1887107 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:1887107C>A uc001aim.1 - 18 2355 c.2199G>T c.(2197-2199)AAG>AAT p.K733N KIAA1751_uc009vkz.1_Intron NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 733 pancreas(1) 1 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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CCCACCCTGGCTTGGCCTGGC 0.662 NA 44 41 2.55665e-31 4.68342e-31 0.00361 1 0 HES3 390992 broad.mit.edu 37 1 6305549 6305549 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:6305549C>A uc009vly.1 + 4 598 c.543C>A c.(541-543)CCC>CCA p.P181P NM_001024598 NP_001019769 Q5TGS1 HES3_HUMAN hairy and enhancer of split 3 181 transcription, DNA-dependent nucleus DNA binding 0 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) GGGGAAGCCCCGGGGATGACC 0.697 NA 5 5 8.12818e-05 9.07842e-05 0.001984 1 0 SLC45A1 50651 broad.mit.edu 37 1 8384429 8384429 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:8384429C>A uc001apb.2 + 1 40 c.40C>A c.(40-42)CTC>ATC p.L14I NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 14 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGATGCCCTCTTCCCCAG 0.657 NA 31 45 1.39806e-14 2.07702e-14 0.008361 1 0 MIIP 60672 broad.mit.edu 37 1 12089915 12089915 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:12089915A>G uc001ato.1 + 7 989 c.809A>G c.(808-810)CAG>CGG p.Q270R NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 270 Interaction with IGFBP2. ovary(1) 1 CGAGACCAGCAGGGCCCTGGG 0.637 NA 11 10 0 0 0.001855 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12248921 12248921 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:12248921A>T uc001att.2 + 2 236 c.147A>T c.(145-147)ACA>ACT p.T49T TNFRSF1B_uc001atu.2_Intron|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 49 Extracellular (Potential).|TNFR-Cys 1. apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) ATGACCAGACAGCTCAGATGT 0.632 NA 12 30 0 0 0.010729 0 0 TMEM82 388595 broad.mit.edu 37 1 16070900 16070900 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:16070900G>T uc001axc.2 + 4 720 c.582G>T c.(580-582)CTG>CTT p.L194L NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 194 Leu-rich. integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCCTGCTGGCCCATGCAC 0.701 NA 4 3 0.00909568 0.00941403 0.009096 1 0 PADI1 29943 broad.mit.edu 37 1 17548814 17548815 + Missense_Mutation DNP GG GG TT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:17548814_17548815GG>TT uc001bah.1 + 2 214_215 c.122_123GG>TT c.(121-123)AGG>ATT p.R41I NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 41 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AACAGCTTCAGGGTCTCTGGAA 0.579 Esophageal Squamous(80;414 1257 4580 27746 50832) NA 10 39 0 0 0.004672 0 0 TMCO4 255104 broad.mit.edu 37 1 20009803 20009804 + Missense_Mutation DNP CT CT AA TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:20009803_20009804CT>AA uc001bcn.2 - 16 1876_1877 c.1634_1635AG>TT c.(1633-1635)CAG>CTT p.Q545L TMCO4_uc001bcm.2_Missense_Mutation_p.Q376L|TMCO4_uc001bco.1_Missense_Mutation_p.Q545L|TMCO4_uc001bcp.1_Missense_Mutation_p.Q505L NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 545 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CAGCTGCTGCCTGGCGAGGCTC 0.663 NA 27 26 0 0 0.004672 0 0 LUZP1 7798 broad.mit.edu 37 1 23418280 23418280 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:23418280C>A uc001bgk.2 - 4 2859 c.2475G>T c.(2473-2475)CAG>CAT p.Q825H LUZP1_uc010odv.1_Missense_Mutation_p.Q825H|LUZP1_uc001bgl.2_Missense_Mutation_p.Q825H|LUZP1_uc001bgm.1_Missense_Mutation_p.Q825H NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 825 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CCAGCCCCACCTGGATATTGC 0.537 NA 24 34 1.64293e-13 2.35083e-13 0.00333 1 0 PAFAH2 5051 broad.mit.edu 37 1 26310565 26310565 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:26310565C>A uc001bld.3 - 6 604 c.424G>T c.(424-426)GCA>TCA p.A142S PAFAH2_uc001ble.3_Missense_Mutation_p.A142S NM_000437 NP_000428 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2 142 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding ovary(2) 2 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) TAGGTGGTTGCCGCTGACCGG 0.498 NA 31 122 4.31634e-10 5.75203e-10 0.012213 1 0 FGR 2268 broad.mit.edu 37 1 27949654 27949654 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:27949654C>T uc001boj.2 - 2 374 c.228G>A c.(226-228)GGG>GGA p.G76G FGR_uc001bok.2_Silent_p.G76G|FGR_uc001bol.2_Silent_p.G76G|FGR_uc001bom.2_Silent_p.G76G NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 76 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCACCCCAATCCCTGCAGAGT 0.572 NA 7 15 0 0 0.001984 0 0 BAI2 576 broad.mit.edu 37 1 32222212 32222212 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:32222212T>A uc001btn.2 - 4 580 c.226A>T c.(226-228)AAG>TAG p.K76* BAI2_uc010ogp.1_Nonsense_Mutation_p.K64*|BAI2_uc010ogq.1_Nonsense_Mutation_p.K76*|BAI2_uc001bto.2_Nonsense_Mutation_p.K76*|BAI2_uc001btq.1_Nonsense_Mutation_p.K64*|BAI2_uc010ogr.1_Nonsense_Mutation_p.K64* NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 76 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGGGAGTACTTGGTGGGGTCA 0.642 NA 6 11 0 0 0.001984 0 0 CSMD2 114784 broad.mit.edu 37 1 34038154 34038154 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:34038154G>T uc001bxn.1 - 51 7749 c.7720C>A c.(7720-7722)CTG>ATG p.L2574M CSMD2_uc001bxm.1_Missense_Mutation_p.L2572M NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2574 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTGTGTCCAGACACTCTGCA 0.587 NA 52 41 3.50607e-19 5.7906e-19 0.00361 1 0 GJA4 2701 broad.mit.edu 37 1 35260672 35260672 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:35260672C>A uc001bya.2 + 2 946 c.858C>A c.(856-858)TCC>TCA p.S286S GJA4_uc009vul.2_Silent_p.S362S|GJA4_uc009vum.1_Silent_p.S286S NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 286 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCTCTCATCCAGTGAGCAGA 0.627 NA 4 11 0.00116845 0.00125755 0.001168 1 0 DLGAP3 58512 broad.mit.edu 37 1 35334650 35334650 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:35334650C>T uc001byc.2 - 7 2041 c.2041G>A c.(2041-2043)GTG>ATG p.V681M NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 681 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.V681M(1) ovary(3) 3 Myeloproliferative disorder(586;0.0393) TCTGCCTGCACGCCAGCCGTC 0.657 NA 5 9 0 0 0.001168 0 0 TAL1 6886 broad.mit.edu 37 1 47685773 47685773 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:47685773C>A uc001cqx.2 - 4 1192 c.615G>T c.(613-615)GGG>GGT p.G205G TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.G205G NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 205 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 CGGCAAAGGCCCCGTTCACAT 0.562 NA T TRD@|SIL lymphoblastic leukemia/biphasic 8 20 1.12685e-05 1.2911e-05 0.004482 1 0 DMRTB1 63948 broad.mit.edu 37 1 53930518 53930518 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:53930518C>A uc001cvq.1 + 3 1014 c.959C>A c.(958-960)ACT>AAT p.T320N NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 320 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AAGGAGAACACTGGTGAGTGA 0.552 NA 30 34 8.73648e-17 1.35634e-16 0.004289 1 0 C1orf87 127795 broad.mit.edu 37 1 60538214 60538214 + Silent SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:60538214T>A uc001czs.1 - 2 194 c.102A>T c.(100-102)CCA>CCT p.P34P NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 34 calcium ion binding ovary(1)|breast(1) 2 CTTACATCTTTGGCTTCTCCA 0.363 NSCLC(75;811 1386 4923 13371 51772) NA 20 176 0 0 0.010504 0 0 KANK4 163782 broad.mit.edu 37 1 62739527 62739527 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:62739527C>A uc001dah.3 - 3 1626 c.1249G>T c.(1249-1251)GAC>TAC p.D417Y KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 417 ovary(3)|skin(2)|lung(1) 6 TGGACAGGGTCAGTGTTCACC 0.537 NA 32 414 3.21399e-22 5.49832e-22 0.004878 1 0 LEPR 3953 broad.mit.edu 37 1 66102113 66102113 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:66102113G>T uc001dci.2 + 20 3115 c.2913G>T c.(2911-2913)GAG>GAT p.E971D LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 971 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGGGTACTGAGGTAACCTATG 0.438 NA 22 170 2.27731e-05 2.58067e-05 0.012319 1 0 LEPR 3953 broad.mit.edu 37 1 66102442 66102442 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:66102442G>T uc001dci.2 + 20 3444 c.3242G>T c.(3241-3243)GGG>GTG p.G1081V LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1081 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TATTATTTAGGGGTCACCTCA 0.413 NA 171 33 6.77334e-58 1.30224e-57 0.00361 1 0 TCTEX1D1 200132 broad.mit.edu 37 1 67242971 67242971 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:67242971G>T uc001dcv.2 + 5 505 c.374G>T c.(373-375)CGG>CTG p.R125L TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 125 0 ATGATTCCACGGTATAAACTA 0.383 NA 114 49 1.25929e-39 2.37696e-39 0.00361 1 0 FPGT 8790 broad.mit.edu 37 1 74670277 74670277 + Silent SNP G G A rs139749795 byFrequency TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:74670277G>A uc001dgb.1 + 4 583 c.546G>A c.(544-546)AGG>AGA p.R182R TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 182 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 AGTTTATTAGGTTTGACAAAC 0.353 NA 16 147 0 0 0.003163 0 0 C1orf173 127254 broad.mit.edu 37 1 75055605 75055605 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:75055605G>A uc001dgg.2 - 12 2105 c.1886C>T c.(1885-1887)CCA>CTA p.P629L uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P423L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 629 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AGACTTTCTTGGCTTATCATT 0.448 NA 12 141 0 0 0.003163 0 0 C1orf173 127254 broad.mit.edu 37 1 75055645 75055645 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:75055645T>A uc001dgg.2 - 12 2065 c.1846A>T c.(1846-1848)AGA>TGA p.R616* uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.R410* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 616 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GATGACCTTCTGGCACTTTCA 0.443 NA 102 29 0 0 0.00361 0 0 AK5 26289 broad.mit.edu 37 1 77806104 77806104 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:77806104C>A uc001dhn.2 + 6 999 c.742C>A c.(742-744)CAG>AAG p.Q248K AK5_uc001dho.2_Missense_Mutation_p.Q222K NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 248 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TTGTGCTAATCAGAGACTCAA 0.453 NA 135 31 2.73285e-76 5.28691e-76 0.00361 1 0 COL11A1 1301 broad.mit.edu 37 1 103440391 103440391 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103440391G>T uc001dul.2 - 36 3121 c.2803C>A c.(2803-2805)CCT>ACT p.P935T COL11A1_uc001duk.2_Missense_Mutation_p.P131T|COL11A1_uc001dum.2_Missense_Mutation_p.P947T|COL11A1_uc001dun.2_Missense_Mutation_p.P896T|COL11A1_uc009weh.2_Missense_Mutation_p.P819T NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 935 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) CTTACAGGAGGGCCTTTTGGT 0.383 NA 11 19 2.27111e-07 2.78177e-07 0.001368 1 0 COL11A1 1301 broad.mit.edu 37 1 103491782 103491782 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103491782G>C uc001dul.2 - 6 1205 c.887C>G c.(886-888)GCA>GGA p.A296G COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.A296G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 296 Nonhelical 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) CTCCGTCTGTGCTATTGTCTC 0.443 NA 16 37 0 0 0.004007 0 0 COL11A1 1301 broad.mit.edu 37 1 103548452 103548452 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:103548452G>T uc001dul.2 - 2 501 c.183C>A c.(181-183)TGC>TGA p.C61* COL11A1_uc001dum.2_Nonsense_Mutation_p.C61*|COL11A1_uc001dun.2_Nonsense_Mutation_p.C61*|COL11A1_uc009weh.2_Nonsense_Mutation_p.C61* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 61 TSP N-terminal. 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) TTCTGTTTGTGCAAAATCCCG 0.363 NA 27 51 1.50538e-07 1.85853e-07 0.00632 1 0 PRMT6 55170 broad.mit.edu 37 1 107600389 107600389 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:107600389G>C uc010ous.1 + 1 1123 c.1052G>C c.(1051-1053)CGT>CCT p.R351P NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 351 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GACAACCCCCGTCGCCTGCGC 0.602 NA 6 12 0 0 0.001984 0 0 CELSR2 1952 broad.mit.edu 37 1 109813107 109813107 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:109813107G>T uc001dxa.3 + 24 7429 c.7368G>T c.(7366-7368)TGG>TGT p.W2456C NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2456 Helical; Name=3; (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCTTTTCCTGGGCTCTGCTGG 0.647 NSCLC(158;1285 2011 34800 34852 42084) NA 15 39 8.00594e-06 9.27554e-06 0.007413 1 0 SLC6A17 388662 broad.mit.edu 37 1 110717483 110717484 + Nonsense_Mutation DNP GG GG CT rs142547110 by1000genomes TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:110717483_110717484GG>CT uc009wfq.2 + 5 1115_1116 c.654_655GG>CT c.(652-657)TCGGAG>TCCTAG p.E219* NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 219 Extracellular (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) ACTCCATCTCGGAGAGTGGGGG 0.574 NA 9 18 0 0 0.004672 0 0 C1orf103 55791 broad.mit.edu 37 1 111495357 111495357 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:111495357T>A uc001eaa.2 - 2 405 c.149A>T c.(148-150)AAG>ATG p.K50M C1orf103_uc001dzz.2_Translation_Start_Site|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 50 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) TCCAGAAGACTTAGGAATTGG 0.378 NA 12 25 0 0 0.001368 0 0 C1orf161 126868 broad.mit.edu 37 1 116670876 116670876 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:116670876G>A uc001egc.1 + 6 1036 c.771G>A c.(769-771)AGG>AGA p.R257R NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 257 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GCTGCCGTAGGAAGTGTTTTC 0.552 NA 7 18 0 0 0.00308 0 0 WDR3 10885 broad.mit.edu 37 1 118477140 118477140 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:118477140C>T uc010oxe.1 + 3 282 c.216C>T c.(214-216)TGC>TGT p.C72C WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 72 WD 2. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) CTTGCTTATGCCCCTCCCCAG 0.428 NA 4 70 0 0 0.009096 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962122 119962122 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:119962122T>A uc001ehs.2 + 2 997 c.224T>A c.(223-225)GTC>GAC p.V75D HSD3B2_uc001eht.2_Missense_Mutation_p.V75D|HSD3B2_uc001ehu.2_Missense_Mutation_p.V75D NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 75 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TGCCAGGACGTCTCGGTCGTC 0.502 NA 10 16 0 0 0.006214 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075801 145075801 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:145075801C>G uc001emh.2 - 1 279 c.62G>C c.(61-63)CGC>CCC p.R21P NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R21P|PDE4DIP_uc001emk.2_Missense_Mutation_p.R21P NM_022359 NP_071754 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform Error:Variant_position_missing_in_Q5VU43_after_alignment cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCGGGACGCGCGACAGCAGCA 0.701 NA T PDGFRB MPD 7 75 0 0 0.004482 0 0 CELF3 11189 broad.mit.edu 37 1 151680397 151680397 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:151680397G>T uc001eys.1 - 6 1295 c.501C>A c.(499-501)AGC>AGA p.S167R CELF3_uc010pdh.1_5'UTR|CELF3_uc001eyr.2_Missense_Mutation_p.S166R|CELF3_uc009wmy.2_Missense_Mutation_p.S167R|CELF3_uc009wmx.1_Missense_Mutation_p.S167R|CELF3_uc001eyt.2_Missense_Mutation_p.S90R|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 167 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 TCACCACCAGGCTGGACGAGG 0.642 NA 5 21 0.000602214 0.000654948 0.000602 1 0 FLG 2312 broad.mit.edu 37 1 152279988 152279988 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:152279988A>T uc001ezu.1 - 3 7410 c.7374T>A c.(7372-7374)GGT>GGA p.G2458G NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2458 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) TGGTGTCCTGACCCTCTTGGG 0.587 NA Ichthyosis 149 167 0 0 0.00361 0 0 LELP1 149018 broad.mit.edu 37 1 153177371 153177371 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:153177371C>A uc001fbl.2 + 2 298 c.188C>A c.(187-189)TCG>TAG p.S63* NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 63 Cys/Pro-rich. ovary(1) 1 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCCTGCCCCTCGCAGTCTCCT 0.597 NA 29 28 9.39395e-14 1.35982e-13 0.00632 1 0 IQGAP3 128239 broad.mit.edu 37 1 156532439 156532439 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:156532439C>A uc001fpf.2 - 9 892 c.817G>T c.(817-819)GAC>TAC p.D273Y IQGAP3_uc009wsb.1_Missense_Mutation_p.D230Y NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 273 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCATAGATGTCCTGGCTTTCT 0.488 NA 30 42 4.65686e-17 7.28441e-17 0.003755 1 0 PEAR1 375033 broad.mit.edu 37 1 156883536 156883536 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:156883536C>A uc001fqj.1 + 21 2813 c.2697C>A c.(2695-2697)GGC>GGA p.G899G PEAR1_uc001fqk.1_Silent_p.G524G NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 899 Pro-rich. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATGGCCCAGGCCCATTCTACA 0.597 NA 24 13 6.21321e-17 9.69448e-17 0.00278 1 0 CD1D 912 broad.mit.edu 37 1 158152741 158152741 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158152741A>T uc001frr.2 + 5 1180 c.681A>T c.(679-681)TCA>TCT p.S227S CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 227 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GCCATGTCTCAGGATTCTACC 0.617 NA 43 52 0 0 0.007835 0 0 CD1E 913 broad.mit.edu 37 1 158325743 158325743 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158325743A>T uc001fse.2 + 4 991 c.752A>T c.(751-753)CAG>CTG p.Q251L CD1E_uc010pid.1_Missense_Mutation_p.Q249L|CD1E_uc010pie.1_Missense_Mutation_p.Q152L|CD1E_uc010pif.1_Missense_Mutation_p.Q62L|CD1E_uc001fsd.2_Missense_Mutation_p.Q251L|CD1E_uc001fsk.2_Missense_Mutation_p.Q161L|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.Q62L|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.Q251L|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Missense_Mutation_p.Q62L|CD1E_uc001fsh.2_Missense_Mutation_p.Q62L|CD1E_uc001fsi.2_Missense_Mutation_p.Q251L|CD1E_uc009wsv.2_Missense_Mutation_p.Q152L|CD1E_uc001frz.2_Missense_Mutation_p.Q161L|CD1E_uc009wsw.2_Missense_Mutation_p.Q9L NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 251 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GAGCAGGAGCAGCGGGGCACT 0.647 NA 24 40 0 0 0.005443 0 0 SPTA1 6708 broad.mit.edu 37 1 158615096 158615096 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:158615096C>A uc001fst.1 - 29 4275 c.4076G>T c.(4075-4077)GGG>GTG p.G1359V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1359 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCATGGTGCCCACTGTCGAT 0.502 NA 25 50 1.64293e-13 2.35083e-13 0.00333 1 0 GORAB 92344 broad.mit.edu 37 1 170521423 170521423 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:170521423A>G uc001gha.2 + 5 1032 c.1005A>G c.(1003-1005)CCA>CCG p.P335P GORAB_uc009wvx.2_Silent_p.P155P|GORAB_uc001ghb.2_Silent_p.P155P|GORAB_uc001ghc.2_Silent_p.P155P|GORAB_uc001ghd.2_Silent_p.P128P NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 335 Necessary for interaction with RCHY1. Golgi apparatus|nucleus 0 TAGAGAGGCCATTTCAGCCTG 0.463 NA 17 26 0 0 0.00499 0 0 C1orf105 92346 broad.mit.edu 37 1 172425554 172425555 + Splice_Site DNP GG GG TT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:172425554_172425555GG>TT uc001gik.2 + 4 395 c.199_splice c.e4-1 p.A67_splice NM_139240 NP_640333 O95561 CA105_HUMAN hypothetical protein LOC92346 skin(1) 1 TTTCCCCTCAGGCCAGGAGGAA 0.51 NA 18 73 0 0 0.004672 0 0 SLC9A11 284525 broad.mit.edu 37 1 173476059 173476059 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:173476059A>C uc001giz.2 - 25 3584 c.3161T>G c.(3160-3162)GTA>GGA p.V1054G SLC9A11_uc009wwe.2_Missense_Mutation_p.V612G NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 1054 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AGTATCAATTACACTGCCATA 0.338 NA 24 55 0 0 0.003954 0 0 TDRD5 163589 broad.mit.edu 37 1 179561783 179561783 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:179561783G>T uc001gnf.1 + 2 283 c.33G>T c.(31-33)CTG>CTT p.L11L TDRD5_uc010pnp.1_Silent_p.L11L|uc010pno.1_5'Flank NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 11 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGGAATGTCTGCGGAAGGAAA 0.468 NA 32 50 7.16026e-08 9.03765e-08 0.012213 1 0 CACNA1E 777 broad.mit.edu 37 1 181765960 181765960 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:181765960C>A uc001gow.2 + 46 6401 c.6236C>A c.(6235-6237)CCC>CAC p.P2079H CACNA1E_uc009wxs.2_Missense_Mutation_p.P1967H|CACNA1E_uc009wxt.2_Missense_Mutation_p.P1348H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2122 Cytoplasmic (Potential). 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 TCCAGGTCACCCAGTGAGGGC 0.587 NA 6 4 0.00116845 0.00125755 0.001168 1 0 ZNF648 127665 broad.mit.edu 37 1 182027050 182027050 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:182027050G>T uc001goz.2 - 2 304 c.96C>A c.(94-96)AAC>AAA p.N32K NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N32S(1) ovary(1) 1 CACTCTCTAAGTTCATGCTCA 0.572 NSCLC(71;908 1374 5429 20458 35642) NA 46 51 1.03325e-14 1.54242e-14 0.011902 1 0 CDC73 79577 broad.mit.edu 37 1 193218922 193218922 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:193218922G>T uc001gtb.2 + 16 1723 c.1480G>T c.(1480-1482)GTA>TTA p.V494L NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 494 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 GAAATGGGATGTAACAGTATT 0.373 NA Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 19 44 1.96292e-10 2.63847e-10 0.010504 1 0 CFHR4 10877 broad.mit.edu 37 1 196887425 196887425 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:196887425A>T uc001gto.2 + 6 954 c.885A>T c.(883-885)ACA>ACT p.T295T CFHR4_uc009wyy.2_Silent_p.T541T|CFHR4_uc001gtp.2_Silent_p.T542T NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 295 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 ATGCAAAAACAGGGGATACCA 0.313 NA 29 38 0 0 0.00632 0 0 ASPM 259266 broad.mit.edu 37 1 197065223 197065223 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197065223C>A uc001gtu.2 - 19 9149 c.8892G>T c.(8890-8892)TGG>TGT p.W2964C ASPM_uc001gtv.2_Missense_Mutation_p.W1379C|ASPM_uc001gtw.3_Missense_Mutation_p.W812C NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2964 IQ 35. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AACATCTATACCAGGCTTGAA 0.333 NA 94 84 1.61169e-53 3.08906e-53 0.00361 1 0 ZBTB41 360023 broad.mit.edu 37 1 197128743 197128743 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197128743G>A uc001gtx.1 - 10 2545 c.2476C>T c.(2476-2478)CGT>TGT p.R826C ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GTAGTATGACGCACTAGGTCA 0.473 NA 4 63 0 0 0.009096 0 0 CRB1 23418 broad.mit.edu 37 1 197390204 197390204 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:197390204C>A uc001gtz.2 + 6 1381 c.1246C>A c.(1246-1248)CCT>ACT p.P416T CRB1_uc010poz.1_Missense_Mutation_p.P347T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P304T|CRB1_uc010ppb.1_Missense_Mutation_p.P416T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.P65T NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 416 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TGAGAACTTGCCTGGGAATTA 0.408 NA 28 73 9.80776e-20 1.64168e-19 0.00632 1 0 FAM58B 339521 broad.mit.edu 37 1 200183036 200183036 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:200183036C>T uc009wzi.1 + 1 381 c.345C>T c.(343-345)GAC>GAT p.D115D NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 115 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TGGGATTGGACTCCCGCCTCT 0.577 NA 16 48 0 0 0.007413 0 0 RNPEP 6051 broad.mit.edu 37 1 201973564 201973564 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:201973564C>G uc001gxd.2 + 10 1763 c.1734C>G c.(1732-1734)ATC>ATG p.I578M RNPEP_uc001gxe.2_Missense_Mutation_p.I279M|RNPEP_uc001gxf.2_Missense_Mutation_p.I447M NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase 578 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GGGGCCAAATCGTCCTTAAGA 0.512 GBM(19;39 479 7473 13131 19462) NA 33 85 0 0 0.002836 0 0 CTSE 1510 broad.mit.edu 37 1 206331183 206331183 + Nonstop_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:206331183T>G uc001hdu.2 + 9 1307 c.1189T>G c.(1189-1191)TAA>GAA p.*397E CTSE_uc001hdv.2_Silent_p.P349P|CTSE_uc010prs.1_Silent_p.P274P NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 397 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) AGCAGTCCCCTAAGGAGGGGC 0.517 NA 17 52 0 0 0.004007 0 0 C1orf116 79098 broad.mit.edu 37 1 207195647 207195647 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:207195647C>A uc001hfd.2 - 4 1721 c.1462G>T c.(1462-1464)GGC>TGC p.G488C C1orf116_uc009xcb.1_Missense_Mutation_p.G242C NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 488 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) AGTCCCACGCCTGAGCGCTCC 0.567 NA 3 10 0.00909568 0.00941403 0.009096 1 0 CR1 1378 broad.mit.edu 37 1 207741314 207741314 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:207741314C>A uc001hfy.2 + 17 2888 c.2748C>A c.(2746-2748)AGC>AGA p.S916R CR1_uc009xcl.1_Missense_Mutation_p.S466R|CR1_uc001hfx.2_Missense_Mutation_p.S1366R|CR1_uc009xck.1_Missense_Mutation_p.S466R NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 916 Extracellular (Potential).|Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTGGAGAGAGCACCATCCGCT 0.542 NA 24 46 1.64293e-13 2.35083e-13 0.00333 1 0 PLXNA2 5362 broad.mit.edu 37 1 208206713 208206713 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:208206713C>A uc001hgz.2 - 28 5764 c.5006G>T c.(5005-5007)GGC>GTC p.G1669V NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1669 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CATCTTGCTGCCCCGGTCACC 0.602 NA 27 29 8.58068e-18 1.36631e-17 0.007291 1 0 PLXNA2 5362 broad.mit.edu 37 1 208390847 208390847 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:208390847G>A uc001hgz.2 - 2 1179 c.421C>T c.(421-423)CGG>TGG p.R141W PLXNA2_uc001hha.3_Missense_Mutation_p.R195W NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 141 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TCATCCAGCCGCAGCAGCTTG 0.572 NA 36 87 0 0 0.006999 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232579372 232579372 + Nonsense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:232579372C>T uc001hvg.2 - 10 3571 c.3413G>A c.(3412-3414)TGG>TAG p.W1138* SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.W212* NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1138 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGTGGTCTCCAGGGTCCGCT 0.498 NA 16 24 0 0 0.00499 0 0 RYR2 6262 broad.mit.edu 37 1 237670064 237670064 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237670064C>A uc001hyl.1 + 23 2788 c.2668C>A c.(2668-2670)CAT>AAT p.H890N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 890 Cytoplasmic (By similarity).|1.|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) AGAGAATATCCATGAACTCTG 0.333 NA 13 10 3.45872e-05 3.91232e-05 0.004007 1 0 RYR2 6262 broad.mit.edu 37 1 237789102 237789102 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237789102C>A uc001hyl.1 + 40 6284 c.6164C>A c.(6163-6165)TCC>TAC p.S2055Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2055 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) TCCAAAAAGTCCTGTAAGCAG 0.423 NA 6 16 3.59834e-05 4.05547e-05 0.001168 1 0 RYR2 6262 broad.mit.edu 37 1 237870278 237870278 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237870278G>A uc001hyl.1 + 68 9730 c.9610G>A c.(9610-9612)GTT>ATT p.V3204I RYR2_uc010pxz.1_Missense_Mutation_p.V159I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3204 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) TGTGGAAGATGTTTGTCCAAA 0.418 NA 35 94 0 0 0.005524 0 0 RYR2 6262 broad.mit.edu 37 1 237948103 237948103 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:237948103C>A uc001hyl.1 + 90 13211 c.13091C>A c.(13090-13092)ACC>AAC p.T4364N RYR2_uc010pya.1_Missense_Mutation_p.T779N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4364 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) GAGGATCTGACCGACTTAAAG 0.527 NA 7 28 1.06961e-07 1.33917e-07 0.00308 1 0 NLRP3 114548 broad.mit.edu 37 1 247586625 247586625 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:247586625G>T uc001icr.2 + 4 515 c.377G>T c.(376-378)AGA>ATA p.R126I NLRP3_uc001ics.2_Missense_Mutation_p.R126I|NLRP3_uc001icu.2_Missense_Mutation_p.R126I|NLRP3_uc001icw.2_Missense_Mutation_p.R126I|NLRP3_uc001icv.2_Missense_Mutation_p.R126I|NLRP3_uc010pyw.1_Missense_Mutation_p.R124I|NLRP3_uc001ict.1_Missense_Mutation_p.R124I NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 126 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TACCTTTCGAGAATCTCTATT 0.458 NA 20 62 5.49717e-05 6.17313e-05 0.00333 1 0 NLRP3 114548 broad.mit.edu 37 1 247588117 247588117 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:247588117C>A uc001icr.2 + 5 1510 c.1372C>A c.(1372-1374)CAG>AAG p.Q458K NLRP3_uc001ics.2_Missense_Mutation_p.Q458K|NLRP3_uc001icu.2_Missense_Mutation_p.Q458K|NLRP3_uc001icw.2_Missense_Mutation_p.Q458K|NLRP3_uc001icv.2_Missense_Mutation_p.Q458K|NLRP3_uc010pyw.1_Missense_Mutation_p.Q456K|NLRP3_uc001ict.1_Missense_Mutation_p.Q456K NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 458 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGGAGGGAGCCAGGAGCACGG 0.597 NA 6 22 0.00198382 0.00210951 0.001984 1 0 MYO3A 53904 broad.mit.edu 37 10 26436361 26436361 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:26436361C>T uc001isn.2 + 23 2868 c.2508C>T c.(2506-2508)GTC>GTT p.V836V MYO3A_uc009xko.1_Silent_p.V836V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 836 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 ATCAACAGGTCCTCTATAATG 0.279 NA 24 17 0 0 0.00333 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451731 37451731 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:37451731C>A uc001iza.1 + 17 1888 c.1789C>A c.(1789-1791)CCA>ACA p.P597T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 653 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAAGTCTGTCCCAAATAAAGC 0.313 NA 42 17 6.21074e-16 9.52314e-16 0.011902 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37454033 37454033 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:37454033C>A uc001iza.1 + 18 1945 c.1846C>A c.(1846-1848)CCA>ACA p.P616T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 672 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TGAGATACTCCCATCAGAATC 0.294 NA 30 14 1.07637e-12 1.5157e-12 0.004878 1 0 ZNF485 220992 broad.mit.edu 37 10 44112653 44112653 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:44112653G>T uc010qfc.1 + 5 1356 c.1162G>T c.(1162-1164)GGG>TGG p.G388W ZNF485_uc010qfd.1_Missense_Mutation_p.G297W NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 388 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAAGAAATGTGGGAAAGCCTT 0.448 NA 19 25 3.32936e-07 4.03815e-07 0.006122 1 0 OR13A1 79290 broad.mit.edu 37 10 45799823 45799823 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:45799823G>A uc001jcc.1 - 4 357 c.48C>T c.(46-48)CCC>CCT p.P16P OR13A1_uc001jcd.1_Silent_p.P12P NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTTGGGCTGGGACGGGTTT 0.512 NA 41 44 0 0 0.009718 0 0 PCDH15 65217 broad.mit.edu 37 10 56106127 56106127 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:56106127G>T uc001jju.1 - 6 987 c.592C>A c.(592-594)CCG>ACG p.P198T PCDH15_uc010qhq.1_Missense_Mutation_p.P203T|PCDH15_uc010qhr.1_Missense_Mutation_p.P198T|PCDH15_uc010qhs.1_Missense_Mutation_p.P203T|PCDH15_uc010qht.1_Missense_Mutation_p.P198T|PCDH15_uc010qhu.1_Missense_Mutation_p.P198T|PCDH15_uc001jjv.1_Missense_Mutation_p.P176T|PCDH15_uc010qhv.1_Missense_Mutation_p.P198T|PCDH15_uc010qhw.1_Missense_Mutation_p.P198T|PCDH15_uc010qhx.1_Missense_Mutation_p.P198T|PCDH15_uc010qhy.1_Missense_Mutation_p.P203T|PCDH15_uc010qhz.1_Missense_Mutation_p.P198T|PCDH15_uc010qia.1_Missense_Mutation_p.P176T|PCDH15_uc010qib.1_Missense_Mutation_p.P176T|PCDH15_uc001jjw.2_Missense_Mutation_p.P198T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 198 Extracellular (Potential).|Cadherin 2. 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) TTACATACCGGATCATCTGGA 0.308 NA HNSCC(58;0.16) 23 31 5.26018e-13 7.42402e-13 0.012319 1 0 CDH23 64072 broad.mit.edu 37 10 73572631 73572631 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:73572631G>A uc001jrx.3 + 66 9994 c.9617G>A c.(9616-9618)CGT>CAT p.R3206H CDH23_uc001jsg.3_Missense_Mutation_p.R966H|CDH23_uc001jsh.3_Missense_Mutation_p.R966H|CDH23_uc001jsi.3_Missense_Mutation_p.R966H|CDH23_uc001jsj.3_Missense_Mutation_p.R103H|CDH23_uc010qjr.1_Missense_Mutation_p.R103H NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3206 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CAGATCATTCGTGAGGGGCCA 0.597 NA 14 9 0 0 0.004007 0 0 SFTPA2 729238 broad.mit.edu 37 10 81317230 81317230 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:81317230C>A uc001kal.3 - 6 579 c.482G>T c.(481-483)CGC>CTC p.R161L SFTPA2_uc001kan.3_Missense_Mutation_p.R161L NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 161 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GACAGCAATGCGGCCGCCTGC 0.527 NA Pulmonary_Fibrosis_Idiopathic 41 113 2.10328e-26 3.71062e-26 0.00361 1 0 MMRN2 79812 broad.mit.edu 37 10 88702973 88702973 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:88702973T>C uc001kea.2 - 6 1695 c.1568A>G c.(1567-1569)GAC>GGC p.D523G MMRN2_uc010qmn.1_Missense_Mutation_p.D166G|MMRN2_uc009xtb.2_Missense_Mutation_p.D480G NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 523 extracellular space large_intestine(1) 1 CCGCCGCTCGTCCAGGCTCAC 0.682 NA 14 29 0 0 0.00245 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90670738 90670738 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:90670738C>T uc001kfk.2 + 5 813 c.390C>T c.(388-390)AAC>AAT p.N130N STAMBPL1_uc010qmx.1_Silent_p.N130N|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.N130N|STAMBPL1_uc001kfn.2_5'Flank NM_020799 NP_065850 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 130 metal ion binding|metallopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) AGAAATATAACGTAGAATACC 0.269 NA 13 53 0 0 0.00245 0 0 ANKRD1 27063 broad.mit.edu 37 10 92678728 92678728 + Missense_Mutation SNP G G T rs142354133 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:92678728G>T uc001khe.1 - 4 595 c.347C>A c.(346-348)ACG>AAG p.T116K NM_014391 NP_055206 Q15327 ANKR1_HUMAN cardiac ankyrin repeat protein 116 T -> M (in TAPVR). cellular lipid metabolic process|defense response|signal transduction DNA binding 0 Colorectal(252;0.0475) CACAGGTTCCGTCTAAAGCCA 0.363 NA 28 30 7.01153e-11 9.46557e-11 0.007291 1 0 LGI1 9211 broad.mit.edu 37 10 95557473 95557473 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:95557473C>T uc001kjc.3 + 8 1923 c.1587C>T c.(1585-1587)TCC>TCT p.S529S LGI1_uc010qnv.1_Silent_p.S481S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 529 EAR 7. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) CACATGTGTCCATTAATAAGC 0.353 NA 35 65 0 0 0.002836 0 0 CHUK 1147 broad.mit.edu 37 10 101978830 101978830 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:101978830C>A uc001kqp.2 - 7 679 c.624G>T c.(622-624)GGG>GGT p.G208G NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 208 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATACCATGGTCCCAAAGCTCC 0.418 Ovarian(159;52 1904 10536 35305 37148) NA 36 62 6.97489e-18 1.11923e-17 0.004878 1 0 TLX1 3195 broad.mit.edu 37 10 102894055 102894055 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:102894055G>T uc001ksw.2 + 2 930 c.692G>T c.(691-693)CGC>CTC p.R231L NM_005521 NP_005512 P31314 TLX1_HUMAN T-cell leukemia homeobox 1 231 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TCGGCCGAGCGCGCCGCCCTG 0.587 NA T TRB@|TRD@ T-ALL 6 9 8.12818e-05 9.07842e-05 0.001984 1 0 EIF3A 8661 broad.mit.edu 37 10 120802195 120802195 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:120802195C>G uc001ldu.2 - 19 2983 c.2837G>C c.(2836-2838)AGA>ACA p.R946T EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 946 3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AGAGGGCTCTCTATCTTCATC 0.567 NA 77 112 0 0 0.00361 0 0 C10orf137 26098 broad.mit.edu 37 10 127441455 127441455 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:127441455A>G uc001liq.1 + 23 3658 c.3365A>G c.(3364-3366)CAG>CGG p.Q1122R C10orf137_uc001lio.1_Missense_Mutation_p.Q1088R|C10orf137_uc001lip.1_Missense_Mutation_p.Q826R|C10orf137_uc001lis.1_Missense_Mutation_p.Q448R|C10orf137_uc001lit.1_Missense_Mutation_p.Q32R NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 1122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGCTTATCCAGAAGGAGCTT 0.353 NA 17 38 0 0 0.006122 0 0 EBF3 253738 broad.mit.edu 37 10 131666055 131666055 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:131666055C>T uc001lki.1 - 9 935 c.876G>A c.(874-876)GTG>GTA p.V292V NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 301 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCTCGCTCCACACCAACATAG 0.532 NA 16 18 0 0 0.003163 0 0 CYP2E1 1571 broad.mit.edu 37 10 135352302 135352302 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:135352302G>T uc001lnj.1 + 9 1349 c.1316G>T c.(1315-1317)GGA>GTA p.G439V CYP2E1_uc001lnk.1_Missense_Mutation_p.G302V|CYP2E1_uc009ybl.1_Missense_Mutation_p.G240V|CYP2E1_uc009ybm.1_Missense_Mutation_p.G93V|CYP2E1_uc001lnl.1_Intron NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 439 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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 central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTGTGTGCTGGAGAAGGCCTG 0.468 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 51 80 1.22102e-19 2.03831e-19 0.00361 1 0 MUC6 4588 broad.mit.edu 37 11 1018123 1018123 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1018123G>T uc001lsw.2 - 31 4729 c.4678C>A c.(4678-4680)CAC>AAC p.H1560N NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1560 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGTTGGTGTGGGCCACAGGG 0.582 NA 9 174 1.99824e-07 2.45238e-07 0.00499 1 0 BRSK2 9024 broad.mit.edu 37 11 1464734 1464734 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1464734G>T uc001lti.2 + 8 1035 c.649G>T c.(649-651)GAC>TAC p.D217Y BRSK2_uc009ycv.1_Missense_Mutation_p.D217Y|BRSK2_uc001lth.1_Missense_Mutation_p.D217Y|BRSK2_uc001ltj.2_Missense_Mutation_p.D217Y|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.D217Y|BRSK2_uc001ltm.2_Missense_Mutation_p.D263Y|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 217 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCTGCCCTTCGACGATGACAA 0.677 NA 8 3 5.18039e-06 6.02439e-06 0.00308 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651688 1651688 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:1651688A>T uc001lty.2 + 1 656 c.618A>T c.(616-618)TCA>TCT p.S206S NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 206 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCTGCTTCTCAGGCTGTGGAT 0.592 NA 101 60 0 0 0.00361 0 0 OR51E1 143503 broad.mit.edu 37 11 4674333 4674333 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:4674333G>T uc001lzi.3 + 2 721 c.577G>T c.(577-579)GAT>TAT p.D193Y NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 192 Extracellular (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) GCTGGCCTGTGATGATATCCG 0.498 NA 23 106 4.22769e-11 5.74485e-11 0.00632 1 0 OR56A5 390084 broad.mit.edu 37 11 5989509 5989509 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:5989509C>A uc010qzu.1 - 1 216 c.216G>T c.(214-216)CTG>CTT p.L72L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN olfactory receptor, family 56, subfamily A, 72 Helical; Name=2; (Potential). integral to membrane|plasma membrane olfactory receptor activity 0 GTACGATGTCCAGCAGGGAGA 0.572 NA 7 29 3.09899e-07 3.77347e-07 0.004482 1 0 FAM160A2 84067 broad.mit.edu 37 11 6244992 6244992 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:6244992G>A uc001mcl.3 - 3 984 c.625C>T c.(625-627)CGT>TGT p.R209C FAM160A2_uc001mck.3_Missense_Mutation_p.R209C|FAM160A2_uc001mcm.2_Missense_Mutation_p.R209C NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 209 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 AGAAGAAGACGGGGAGCGGCT 0.582 NA 78 40 0 0 0.00361 0 0 KCNC1 3746 broad.mit.edu 37 11 17794029 17794029 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:17794029C>A uc001mnk.3 + 2 1443 c.1388C>A c.(1387-1389)CCA>CAA p.P463Q KCNC1_uc009yhc.1_Missense_Mutation_p.P463Q NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 463 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 ATTCCGCGGCCACCGCAGCTG 0.468 NA 14 56 6.72482e-11 9.09829e-11 0.003163 1 0 KCNC1 3746 broad.mit.edu 37 11 17794031 17794031 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:17794031C>T uc001mnk.3 + 2 1445 c.1390C>T c.(1390-1392)CCG>TCG p.P464S KCNC1_uc009yhc.1_Missense_Mutation_p.P464S NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 464 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 TCCGCGGCCACCGCAGCTGGG 0.473 NA 14 55 0 0 0.003163 0 0 WT1 7490 broad.mit.edu 37 11 32414272 32414272 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:32414272C>A uc001mtn.1 - 8 1475 c.1279G>T c.(1279-1281)GAC>TAC p.D427Y WT1_uc001mtl.1_Missense_Mutation_p.D215Y|WT1_uc001mtm.1_Missense_Mutation_p.D198Y|WT1_uc001mto.1_Missense_Mutation_p.D427Y|WT1_uc001mtp.1_Missense_Mutation_p.D410Y|WT1_uc001mtq.1_Missense_Mutation_p.D410Y|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 359 C2H2-type 2. adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CGTTCACAGTCCTTGAAGTCA 0.443 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 8 46 0.00307968 0.00325252 0.00308 1 0 API5 8539 broad.mit.edu 37 11 43348161 43348161 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:43348161G>T uc010rfh.1 + 7 1028 c.855G>T c.(853-855)GAG>GAT p.E285D API5_uc010rfg.1_Missense_Mutation_p.E274D|API5_uc001mxf.2_Missense_Mutation_p.E285D|API5_uc010rfi.1_Missense_Mutation_p.E231D|API5_uc001mxg.2_Missense_Mutation_p.E159D NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 285 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TACAGTTGGAGGTAAGCAAAA 0.388 Pancreas(1;98 122 5625 20895 49453) NA 26 82 9.39395e-14 1.35982e-13 0.00632 1 0 OR4C46 119749 broad.mit.edu 37 11 51516152 51516152 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:51516152C>A uc010ric.1 + 1 871 c.871C>A c.(871-873)CAG>AAG p.Q291K NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAAGAATGCCCAGATGAAAAA 0.338 NA 5 37 4.68919e-08 5.96719e-08 0.008291 1 0 OR4A15 81328 broad.mit.edu 37 11 55135976 55135976 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:55135976T>A uc010rif.1 + 1 617 c.617T>A c.(616-618)CTG>CAG p.L206Q NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 206 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GACAACTTCCTGTGTGATTTG 0.438 NA 22 103 0 0 0.002299 0 0 OR9I1 219954 broad.mit.edu 37 11 57886584 57886584 + Silent SNP C C T rs144479851 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:57886584C>T uc001nml.1 - 1 333 c.333G>A c.(331-333)GAG>GAA p.E111E OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GCAGAAAGCACTCTGTGCCTG 0.557 NA 6 30 0 0 0.001168 0 0 MS4A2 2206 broad.mit.edu 37 11 59857214 59857214 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:59857214G>A uc001nop.2 + 2 208 c.106G>A c.(106-108)GGC>AGC p.G36S MS4A2_uc009ymu.2_Missense_Mutation_p.G36S NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 36 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) AGTATCTTCAGGCAGACTATT 0.463 NA 50 33 0 0 0.00361 0 0 VWCE 220001 broad.mit.edu 37 11 61040724 61040724 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:61040724C>A uc001nra.2 - 13 1925 c.1646G>T c.(1645-1647)CGG>CTG p.R549L VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 549 VWFC 3. extracellular region calcium ion binding ovary(1) 1 AGGGCCCAGCCGCCACTCTTC 0.657 NA 7 28 5.18039e-06 6.02439e-06 0.00308 1 0 DDB1 1642 broad.mit.edu 37 11 61077401 61077401 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:61077401T>C uc001nrc.3 - 20 2659 c.2433A>G c.(2431-2433)GAA>GAG p.E811E DDB1_uc010rle.1_Silent_p.E122E|DDB1_uc010rlf.1_Silent_p.E811E NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 811 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 TGAGGGCATATTCATTCTGCA 0.498 NA NER 19 85 0 0 0.012319 0 0 AHNAK 79026 broad.mit.edu 37 11 62293785 62293785 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:62293785T>A uc001ntl.2 - 5 8404 c.8104A>T c.(8104-8106)ATC>TTC p.I2702F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2702 nervous system development nucleus protein binding p.I2702M(1) ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGGGCTTTGATATTCATCTCT 0.458 NA 39 156 0 0 0.004878 0 0 CCDC87 55231 broad.mit.edu 37 11 66359007 66359007 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:66359007C>A uc001oiq.3 - 1 1548 c.1480G>T c.(1480-1482)GTC>TTC p.V494F CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 494 ovary(1)|skin(1) 2 TCCTTGTAGACCTCCCTGGTA 0.488 NA 84 76 1.02218e-41 1.94121e-41 0.00361 1 0 RBM14 10432 broad.mit.edu 37 11 66392833 66392833 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:66392833G>T uc001oit.2 + 2 1625 c.1486G>T c.(1486-1488)GGC>TGC p.G496C RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 496 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TGCGGCCACTGGCTCCTATGG 0.627 NA 87 42 5.86298e-51 1.12028e-50 0.00361 1 0 MRGPRF 116535 broad.mit.edu 37 11 68773568 68773568 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:68773568G>C uc001ooo.3 - 3 577 c.210C>G c.(208-210)GGC>GGG p.G70G MRGPRF_uc001oop.3_Silent_p.G70G NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 70 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGATGGAGAAGCCGAAAAACC 0.592 NA 7 24 0 0 0.001984 0 0 FOLR3 2352 broad.mit.edu 37 11 71850763 71850763 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:71850763G>A uc001ory.1 + 5 802 c.752G>A c.(751-753)TGC>TAC p.C251Y FOLR3_uc001orx.1_Missense_Mutation_p.C209Y P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; 207 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) AGCGGCCGCTGCATCCAGATG 0.592 NA 30 14 0 0 0.003271 0 0 CHORDC1 26973 broad.mit.edu 37 11 89944475 89944475 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:89944475G>C uc001pdg.2 - 5 751 c.341C>G c.(340-342)CCA>CGA p.P114R CHORDC1_uc009yvz.2_Missense_Mutation_p.P95R NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 114 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) ATTTGTCATTGGTTCATCTGG 0.299 NA 64 38 0 0 0.00361 0 0 ATM 472 broad.mit.edu 37 11 108137952 108137952 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:108137952G>T uc001pkb.1 + 17 2906 c.2521G>T c.(2521-2523)GAT>TAT p.D841Y ATM_uc009yxr.1_Missense_Mutation_p.D841Y|ATM_uc009yxs.1_5'Flank NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 841 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AATGGAAGATGATACTAATGG 0.403 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 22 19 8.10497e-08 1.01886e-07 0.010504 1 0 C11orf52 91894 broad.mit.edu 37 11 111796798 111796798 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:111796798G>A uc001pmh.2 + 5 730 c.247G>A c.(247-249)GTG>ATG p.V83M C11orf52_uc001pmi.2_Missense_Mutation_p.V83M NM_080659 NP_542390 Q96A22 CK052_HUMAN hypothetical protein LOC91894 83 ovary(1) 1 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) TGACATTCAAGTGTGCAGCCG 0.527 NA 19 12 0 0 0.012319 0 0 HTR3A 3359 broad.mit.edu 37 11 113853842 113853842 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:113853842C>A uc010rxb.1 + 5 626 c.393C>A c.(391-393)TTC>TTA p.F131L HTR3A_uc010rxa.1_Missense_Mutation_p.F131L|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.F110L NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 125 Extracellular (Potential). F -> L (in Ref. 2; AAB37533). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCCCGCCAGCGTGGATGTGG 0.547 NA 48 42 1.39843e-22 2.39896e-22 0.00361 1 0 MLL 4297 broad.mit.edu 37 11 118390412 118390412 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:118390412C>G uc001pta.2 + 32 11240 c.11217C>G c.(11215-11217)CAC>CAG p.H3739Q MLL_uc001ptb.2_Missense_Mutation_p.H3742Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3739 FYR C-terminal. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTGCCAAGCACTGTCGAAATT 0.522 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 70 47 0 0 0.00361 0 0 HINFP 25988 broad.mit.edu 37 11 119005060 119005060 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:119005060A>T uc001pvp.2 + 11 1595 c.1406A>T c.(1405-1407)CAG>CTG p.Q469L HINFP_uc001pvq.2_Missense_Mutation_p.Q469L|HINFP_uc001pvr.2_Missense_Mutation_p.Q222L NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 469 Interaction with NPAT. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GTGGTGAATCAGACCAATGCC 0.597 NA OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 21 0 0 0.007291 0 0 OR10G9 219870 broad.mit.edu 37 11 123894507 123894507 + Missense_Mutation SNP C C T rs148745928 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:123894507C>T uc010sad.1 + 1 788 c.788C>T c.(787-789)TCC>TTC p.S263F NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S263F(1) skin(2) 2 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;0.0399) AGACCAGGCTCCAGGGACGTC 0.517 NA 11 126 0 0 0.00245 0 0 ERC1 23085 broad.mit.edu 37 12 1399138 1399138 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:1399138G>C uc001qjb.2 + 15 2981 c.2740G>C c.(2740-2742)GCA>CCA p.A914P ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.A886P|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.A914P|ERC1_uc010sdv.1_Missense_Mutation_p.A622P|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 914 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TAATCTTCGGGCAGAGAGAAG 0.428 NA 14 95 0 0 0.004007 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1994018 1994018 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:1994018G>T uc001qjp.2 - 11 1419 c.1188C>A c.(1186-1188)TGC>TGA p.C396* CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.C315* NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 396 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGCCTGGTTGCAGAGGCTTC 0.612 Colon(2;101 179 21030 23310 28141) NA 29 8 1.50538e-07 1.85853e-07 0.00632 1 0 CACNA1C 775 broad.mit.edu 37 12 2794913 2794913 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:2794913A>T uc009zdu.1 + 47 6147 c.5834A>T c.(5833-5835)CAG>CTG p.Q1945L CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1859L|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1851L|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1870L|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1868L|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1903L|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1870L|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1910L|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1882L|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1879L|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1897L|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1890L|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qki.1_Missense_Mutation_p.Q1669L|CACNA1C_uc001qkj.1_Missense_Mutation_p.Q1633L|CACNA1C_uc001qkk.1_Missense_Mutation_p.Q1598L|CACNA1C_uc001qkm.1_Missense_Mutation_p.Q1658L|CACNA1C_uc010sea.1_Missense_Mutation_p.Q553L|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.Q180L NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1945 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCTCCTACCAGGATGACGAA 0.582 NA 31 18 0 0 0.009535 0 0 AKAP3 10566 broad.mit.edu 37 12 4736526 4736526 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:4736526C>A uc001qnb.3 - 4 1771 c.1542G>T c.(1540-1542)GAG>GAT p.E514D NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 514 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 ACATAAAATTCTCAGGTTTCT 0.502 NA 16 32 2.32078e-09 3.05341e-09 0.003163 1 0 KCNA5 3741 broad.mit.edu 37 12 5154280 5154280 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:5154280C>A uc001qni.2 + 1 1196 c.967C>A c.(967-969)CCC>ACC p.P323T NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 323 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CCTGGCCGACCCCTTCTTCAT 0.697 NA 23 105 1.22574e-08 1.58911e-08 0.002299 1 0 DDX12 440081 broad.mit.edu 37 12 9574030 9574030 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:9574030T>G uc010sgs.1 - 20 2201 c.2006A>C c.(2005-2007)AAC>ACC p.N669T 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 TAGCGGCTGGTTGGAGACCCC 0.597 NA 8 90 0 0 0.003163 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906583 13906583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:13906583G>T uc001rbt.2 - 3 857 c.678C>A c.(676-678)CCC>CCA p.P226P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 226 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGAATGATGGGGCTTTGAA 0.507 NA 116 49 1.90269e-63 3.66948e-63 0.00361 1 0 GUCY2C 2984 broad.mit.edu 37 12 14804340 14804340 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:14804340C>A uc001rcd.2 - 15 1847 c.1710_splice c.e15+1 p.R570_splice NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TGGTTTCTTACCCGGAGGGAT 0.368 NA 13 91 1.5842e-08 2.04105e-08 0.001855 1 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T A rs121913240 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:25380276T>A uc001rgp.1 - 3 363 c.182A>T c.(181-183)CAA>CTA p.Q61L KRAS_uc001rgq.1_Missense_Mutation_p.Q61L NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Q61R(PANC0213_PANCREAS)|Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 84 23 0 0 0.00361 0 0 OVCH1 341350 broad.mit.edu 37 12 29617627 29617627 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:29617627C>T uc001rix.1 - 18 1938 c.1938G>A c.(1936-1938)AGG>AGA p.R646R NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 646 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGTGTTTGGCCCTTCTCACCT 0.403 NA 72 24 0 0 0.00361 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48134736 48134736 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:48134736T>A uc009zkp.2 - 19 2325 c.1885A>T c.(1885-1887)ACG>TCG p.T629S uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_5'UTR|RAPGEF3_uc001rpx.2_Missense_Mutation_p.T86S|RAPGEF3_uc010sln.1_Missense_Mutation_p.T144S|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.T629S|RAPGEF3_uc001rpz.3_Missense_Mutation_p.T671S NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 629 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCGTGGTCCGTCAGCTGGCCT 0.682 NA 9 10 0 0 0.006214 0 0 KRT1 3848 broad.mit.edu 37 12 53071971 53071971 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:53071971C>T uc001sau.1 - 3 902 c.843G>A c.(841-843)GAG>GAA p.E281E KRT1_uc001sav.1_Silent_p.E281E NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 281 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 CAAATTCATTCTCTGCATTTG 0.403 NA 27 11 0 0 0.002836 0 0 OR6C75 390323 broad.mit.edu 37 12 55759343 55759343 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:55759343G>T uc010spk.1 + 1 449 c.449G>T c.(448-450)GGG>GTG p.G150V NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TGGCTTGCAGGGTTTCTGATC 0.453 NA 30 5 1.50538e-07 1.85853e-07 0.00632 1 0 OR6C2 341416 broad.mit.edu 37 12 55846340 55846340 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:55846340G>T uc001sgz.1 + 1 343 c.343G>T c.(343-345)GCC>TCC p.A115S NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCTCTTGGCAGCCATGTCCTA 0.413 NA 94 37 8.47766e-36 1.57623e-35 0.00361 1 0 ACACB 32 broad.mit.edu 37 12 109609686 109609686 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109609686G>T uc001tob.2 + 5 1121 c.1002G>T c.(1000-1002)CTG>CTT p.L334L ACACB_uc001toc.2_Silent_p.L334L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 334 Biotin carboxylation. 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) ACGTGGAGCTGATTGTGGACA 0.527 NA 25 6 1.16021e-09 1.5297e-09 0.007291 1 0 ACACB 32 broad.mit.edu 37 12 109680290 109680290 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109680290C>T uc001tob.2 + 37 5190 c.5071C>T c.(5071-5073)CTG>TTG p.L1691L ACACB_uc001toc.2_Silent_p.L1691L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L357L NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1691 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) GCACGGGATGCTGATCAATAC 0.532 NA 3 74 0 0 0.004672 0 0 ACACB 32 broad.mit.edu 37 12 109680382 109680382 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:109680382G>T uc001tob.2 + 37 5282 c.5163G>T c.(5161-5163)CCG>CCT p.P1721P ACACB_uc001toc.2_Silent_p.P1721P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P387P NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1721 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) ATGACTTCCCGGAAATGTTCA 0.577 NA 34 12 4.3181e-19 7.11284e-19 0.002836 1 0 CUX2 23316 broad.mit.edu 37 12 111785649 111785649 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:111785649C>A uc001tsa.1 + 22 4134 c.3981C>A c.(3979-3981)CCC>CCA p.P1327P NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1327 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCCAAGGTCCCCCCAAAGAGG 0.622 NA 5 58 1.23904e-05 1.41442e-05 0.000602 1 0 C12orf51 283450 broad.mit.edu 37 12 112622286 112622286 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:112622286C>A uc009zwc.2 - 54 9236 c.9218G>T c.(9217-9219)TGC>TTC p.C3073F NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTGCGAGCTGCAGATGGAGGC 0.687 NA 7 9 5.18039e-06 6.02439e-06 0.00308 1 0 TMEM132B 114795 broad.mit.edu 37 12 126138981 126138981 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:126138981A>G uc001uhe.1 + 9 2970 c.2962A>G c.(2962-2964)AGT>GGT p.S988G TMEM132B_uc001uhf.1_Missense_Mutation_p.S500G NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 988 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCTGAATGGCAGTTCCCAGAA 0.448 NA 18 4 0 0 0.006122 0 0 GPR133 283383 broad.mit.edu 37 12 131487810 131487810 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:131487810G>A uc001uit.3 + 10 1666 c.1107G>A c.(1105-1107)ACG>ACA p.T369T GPR133_uc010tbm.1_Silent_p.T401T NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 369 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACGGCAGCACGCCCCAGGTCA 0.617 NA 55 18 0 0 0.00361 0 0 LATS2 26524 broad.mit.edu 37 13 21549289 21549289 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:21549289G>A uc009zzs.2 - 8 3352 c.2987C>T c.(2986-2988)CCC>CTC p.P996L LATS2_uc001unr.3_Missense_Mutation_p.P996L NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 996 AGC-kinase C-terminal. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGTGTCCATGGGGTGGCTGAT 0.597 NA 16 55 0 0 0.007413 0 0 MTMR6 9107 broad.mit.edu 37 13 25840081 25840081 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:25840081C>A uc001uqf.3 - 5 786 c.467G>T c.(466-468)TGT>TTT p.C156F MTMR6_uc001uqe.1_Missense_Mutation_p.C156F NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 156 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTAAGTTTCACAAATCTGTAA 0.353 NA 16 60 3.52763e-06 4.14113e-06 0.00499 1 0 FREM2 341640 broad.mit.edu 37 13 39430390 39430390 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:39430390G>T uc001uwv.2 + 12 7362 c.7053G>T c.(7051-7053)ATG>ATT p.M2351I FREM2_uc001uww.2_Missense_Mutation_p.M437I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2351 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TAGCAGAGATGCAGGTAAGTA 0.398 NA 8 33 0.00448238 0.00470991 0.004482 1 0 NHLRC3 387921 broad.mit.edu 37 13 39621177 39621177 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:39621177G>T uc001uxc.2 + 6 1001 c.679G>T c.(679-681)GTG>TTG p.V227L NHLRC3_uc001uxd.2_Missense_Mutation_p.V160L|NHLRC3_uc001uxe.2_Missense_Mutation_p.V30L NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a 227 NHL 3. extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TGTTTCTCAGGTGTGGGTTGC 0.333 NA 21 12 7.41877e-09 9.6382e-09 0.012319 1 0 MRPS31 10240 broad.mit.edu 37 13 41345263 41345263 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:41345263T>C uc001uxm.3 - 1 85 c.10A>G c.(10-12)AGA>GGA p.R4G NM_005830 NP_005821 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 precursor 4 mitochondrion|ribosome protein domain specific binding 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GTCGAGACTCTAGGAAACATC 0.582 NA 16 25 0 0 0.00278 0 0 KIAA0564 23078 broad.mit.edu 37 13 42142415 42142415 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:42142415C>A uc001uyj.2 - 45 5706 c.5636G>T c.(5635-5637)CGG>CTG p.R1879L NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1879 VWFA. extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) AACGAAAGACCGACCAGCTGG 0.502 NA 10 29 1.08611e-07 1.35165e-07 0.010729 1 0 LPAR6 10161 broad.mit.edu 37 13 48986493 48986494 + Nonsense_Mutation DNP TG TG AT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:48986493_48986494TG>AT uc010acu.2 - 1 1160_1161 c.66_67CA>AT c.(64-69)TGCATG>TGATTG p.22_23CM>*L RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Nonsense_Mutation_p.22_23CM>*L|LPAR6_uc001vcf.2_Nonsense_Mutation_p.22_23CM>*L NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 22_23 Helical; Name=1; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 ATGCTGAACATGCACCCATACA 0.406 NA 26 24 0 0 0.004672 0 0 PCDH17 27253 broad.mit.edu 37 13 58207410 58207410 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:58207410G>T uc001vhq.1 + 1 1622 c.730G>T c.(730-732)GAG>TAG p.E244* PCDH17_uc010aec.1_Nonsense_Mutation_p.E244* NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 244 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCGGTCTTCGAGGCGCCATC 0.607 Melanoma(72;952 1291 1619 12849 33676) NA 27 21 1.2476e-16 1.93207e-16 0.00632 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329901 88329901 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:88329901C>A uc001vln.2 + 2 2477 c.2258C>A c.(2257-2259)CCC>CAC p.P753H SLITRK5_uc010tic.1_Missense_Mutation_p.P512H NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 753 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAATACATCCCCCACCCACTG 0.652 NA 12 41 4.3838e-07 5.30671e-07 0.001855 1 0 FGF14 2259 broad.mit.edu 37 13 102527578 102527578 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:102527578C>A uc001vpe.2 - 2 262 c.262G>T c.(262-264)GAT>TAT p.D88Y FGF14_uc001vpf.2_Missense_Mutation_p.D93Y NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 88 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAGCTCCATCGGGGTGCATT 0.453 NA 10 17 1.58986e-06 1.88777e-06 0.008291 1 0 F7 2155 broad.mit.edu 37 13 113773184 113773184 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:113773184C>A uc001vsv.2 + 9 1314 c.1263C>A c.(1261-1263)ATC>ATA p.I421I F7_uc001vsw.2_Silent_p.I399I|F7_uc010tjt.1_Silent_p.I352I NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 421 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TGACGGGCATCGTCAGCTGGG 0.642 NA 4 11 0.00909568 0.00941403 0.009096 1 0 LRFN5 145581 broad.mit.edu 37 14 42356124 42356124 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:42356124G>T uc001wvm.2 + 3 1494 c.296G>T c.(295-297)CGA>CTA p.R99L LRFN5_uc010ana.2_Missense_Mutation_p.R99L NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 99 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTGACCTACGAAATTTGAGG 0.358 NA HNSCC(30;0.082) 22 67 1.64293e-13 2.35083e-13 0.00333 1 0 SIX1 6495 broad.mit.edu 37 14 61113223 61113223 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:61113223C>A uc001xfb.3 - 2 881 c.633G>T c.(631-633)CCG>CCT p.P211P NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 211 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) TGGACATGAGCGGCTTGCCCC 0.527 NA 70 12 4.05715e-38 7.61174e-38 0.00361 1 0 PCNX 22990 broad.mit.edu 37 14 71500153 71500153 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:71500153G>T uc001xmo.2 + 17 4012 c.3566G>T c.(3565-3567)TGG>TTG p.W1189L PCNX_uc010are.1_Missense_Mutation_p.W1078L|PCNX_uc010arf.1_Missense_Mutation_p.W49L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1189 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGGATTCTTGGGATGGCCAG 0.353 NA 85 12 3.66348e-25 6.39052e-25 0.00361 1 0 TMEM63C 57156 broad.mit.edu 37 14 77715175 77715175 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:77715175G>C uc001xtf.2 + 20 2042 c.1830G>C c.(1828-1830)GTG>GTC p.V610V TMEM63C_uc010asq.1_Silent_p.V610V NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 610 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCAGCGTGGTGATGGCGTACA 0.567 NA 29 146 0 0 0.009535 0 0 GOLGA5 9950 broad.mit.edu 37 14 93275695 93275695 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:93275695A>C uc001yaz.1 + 4 1005 c.823A>C c.(823-825)AAG>CAG p.K275Q NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 275 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TGACCATTCAAAGAGTGATCG 0.398 NA T RET papillary thyroid 48 8 0 0 0.00361 0 0 SERPINA3 12 broad.mit.edu 37 14 95088785 95088785 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:95088785A>G uc001ydp.2 + 4 1104 c.1025A>G c.(1024-1026)GAC>GGC p.D342G SERPINA3_uc001ydo.3_Missense_Mutation_p.D367G|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D342G|SERPINA3_uc001yds.2_Missense_Mutation_p.D342G|SERPINA3_uc010avg.2_Missense_Mutation_p.D342G NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 342 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGCAAGGCTGACCTGTCAGGG 0.507 NA 72 6 0 0 0.00361 0 0 DICER1 23405 broad.mit.edu 37 14 95579450 95579450 + Silent SNP T T G rs12437122 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:95579450T>G uc001ydw.2 - 13 2201 c.2019A>C c.(2017-2019)TCA>TCC p.S673S DICER1_uc001ydv.2_Silent_p.S663S|DICER1_uc001ydx.2_Silent_p.S673S NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 673 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTCGAAGAGGTGAGTTAATTG 0.363 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 89 0 0 0.00499 0 0 OR4M2 390538 broad.mit.edu 37 15 22369185 22369185 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:22369185G>T uc010tzu.1 + 1 610 c.610G>T c.(610-612)GGT>TGT p.G204C LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGTAGTAGTGGTCTGATCTC 0.468 NA 51 178 1.47633e-17 2.33282e-17 0.00361 1 0 OR4N3P 390539 broad.mit.edu 37 15 22414141 22414141 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:22414141C>A uc001yuf.2 + 1 440 c.440C>A c.(439-441)GCG>GAG p.A147E NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CGCATACGAGCGTCTTCTTCT 0.473 NA 18 61 2.94398e-08 3.76951e-08 0.007413 1 0 OR4N3P 390539 broad.mit.edu 37 15 22414193 22414193 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:22414193C>G uc001yuf.2 + 1 492 c.492C>G c.(490-492)ATC>ATG p.I164M NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CCACCCATATCATTGTTATAT 0.488 NA 31 91 0 0 0.010818 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889461 23889461 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:23889461G>C uc001ywj.3 - 1 1715 c.1620C>G c.(1618-1620)GTC>GTG p.V540V 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) TTGTCTCCCGGACATCCAACC 0.458 NA 17 12 0 0 0.00499 0 0 RYR3 6263 broad.mit.edu 37 15 33991938 33991938 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:33991938C>T uc001zhi.2 + 41 6353 c.6283C>T c.(6283-6285)CGT>TGT p.R2095C RYR3_uc010bar.2_Missense_Mutation_p.R2095C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2095 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) TAGCTGCTGCCGTTTCCTTTG 0.443 NA 15 7 0 0 0.00245 0 0 TGM7 116179 broad.mit.edu 37 15 43572139 43572139 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:43572139C>T uc001zrf.1 - 10 1367 c.1362G>A c.(1360-1362)GAG>GAA p.E454E NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 454 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CAGCTCTCTCCTCAGGGGATC 0.567 NA 13 31 0 0 0.003163 0 0 CASC4 113201 broad.mit.edu 37 15 44630106 44630106 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:44630106G>T uc001zto.1 + 5 1020 c.721_splice c.e5+1 p.E241_splice CASC4_uc001ztp.2_Splice_Site_p.E241_splice|CASC4_uc001ztq.2_Splice_Site_p.E241_splice|CASC4_uc010bdu.1_Splice_Site NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CATGGGAAAGGTATTATTGTT 0.279 NA 16 24 3.52763e-06 4.14113e-06 0.00499 1 0 SLC24A5 283652 broad.mit.edu 37 15 48413249 48413249 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:48413249C>T uc001zwe.2 + 1 81 c.8C>T c.(7-9)ACA>ATA p.T3I SLC24A5_uc001zwd.2_Missense_Mutation_p.T3I|SLC24A5_uc010bel.2_Missense_Mutation_p.T3I NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 3 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GAAATGCAGACAAAAGGGGGC 0.562 NA 3 26 0 0 0.004672 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226373 50226373 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:50226373C>A uc001zxu.2 - 15 1436 c.1294G>T c.(1294-1296)GAG>TAG p.E432* ATP8B4_uc010ber.2_Nonsense_Mutation_p.E305*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E305*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 432 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCCACAGGCTCTTTTTCCTGT 0.348 NA 13 37 5.50884e-06 6.39437e-06 0.001368 1 0 HDC 3067 broad.mit.edu 37 15 50555433 50555433 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:50555433C>A uc001zxz.2 - 2 309 c.203G>T c.(202-204)GGG>GTG p.G68V HDC_uc010uff.1_Missense_Mutation_p.G68V|HDC_uc010bet.1_Missense_Mutation_p.G68V|HDC_uc010beu.1_Missense_Mutation_p.G68V NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 68 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GTGTCTCACCCCAGGCATGAT 0.587 GBM(95;1627 1936 6910 9570) NA 23 100 1.10513e-12 1.54918e-12 0.002299 1 0 AP4E1 23431 broad.mit.edu 37 15 51201079 51201079 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:51201079G>T uc001zyx.1 + 1 134 c.104G>T c.(103-105)AGG>ATG p.R35M AP4E1_uc010ufi.1_Missense_Mutation_p.R35M|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 35 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTCTCCTCGAGGCTGGGCAGC 0.701 NA 11 4 1.08611e-07 1.35165e-07 0.010729 1 0 LBXCOR1 390598 broad.mit.edu 37 15 68119376 68119376 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:68119376G>T uc002aqy.1 + 3 1078 c.1078G>T c.(1078-1080)GGC>TGC p.G360C NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 404 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 TACGGCCTTCGGCCTATGCCC 0.532 NA 7 18 0.000157383 0.000174216 0.00308 1 0 NOX5 79400 broad.mit.edu 37 15 69327796 69327796 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:69327796G>T uc002ars.1 + 6 978 c.958G>T c.(958-960)GTG>TTG p.V320L NOX5_uc002arp.1_Missense_Mutation_p.V302L|NOX5_uc002arq.1_Missense_Mutation_p.V274L|NOX5_uc010bid.1_Missense_Mutation_p.V285L|NOX5_uc002arr.1_Missense_Mutation_p.V292L|NOX5_uc010bie.1_Missense_Mutation_p.V120L|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 320 Ferric oxidoreductase.|Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 TATGGGCTACGTGGTAGTGGG 0.612 NA 20 19 1.2644e-06 1.51875e-06 0.010504 1 0 MYO9A 4649 broad.mit.edu 37 15 72208825 72208825 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:72208825T>C uc002atl.3 - 19 3044 c.2571A>G c.(2569-2571)CTA>CTG p.L857L MYO9A_uc010biq.2_Silent_p.L477L|MYO9A_uc002atn.1_Silent_p.L838L NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 857 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 AATTTACTTCTAGCAAGTGCT 0.338 NA 28 33 0 0 0.005443 0 0 NEO1 4756 broad.mit.edu 37 15 73409019 73409019 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:73409019G>A uc002avm.3 + 2 411 c.269G>A c.(268-270)GGA>GAA p.G90E NEO1_uc010ukx.1_Missense_Mutation_p.G90E|NEO1_uc010uky.1_Missense_Mutation_p.G90E|NEO1_uc010ukz.1_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 90 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 AAAAAAGATGGAACTTTTTTA 0.393 NA 32 96 0 0 0.003755 0 0 KIAA1199 57214 broad.mit.edu 37 15 81188358 81188358 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:81188358G>T uc002bfw.1 + 11 1628 c.1368G>T c.(1366-1368)GTG>GTT p.V456V KIAA1199_uc010unn.1_Silent_p.V456V NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 456 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AGTTCCAGGTGCTTCCCTGCA 0.473 NA 24 48 4.26978e-12 5.89229e-12 0.00333 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84373230 84373230 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:84373230G>T uc002bjz.3 + 3 383 c.159G>T c.(157-159)GAG>GAT p.E53D ADAMTSL3_uc002bjy.1_Missense_Mutation_p.E53D|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E53D|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E53D NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 53 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) CAACAGGGGAGCAGTTCCTCA 0.458 NA 84 70 1.19347e-43 2.27345e-43 0.00361 1 0 AKAP13 11214 broad.mit.edu 37 15 86236676 86236676 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:86236676T>A uc002blv.1 + 17 5628 c.5458T>A c.(5458-5460)TGT>AGT p.C1820S AKAP13_uc002blu.1_Missense_Mutation_p.C1824S|AKAP13_uc010bnf.1_Missense_Mutation_p.C442S|AKAP13_uc002blw.1_Missense_Mutation_p.C287S|AKAP13_uc002blx.1_Missense_Mutation_p.C65S NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1820 Phorbol-ester/DAG-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TGCCTATACTTGTGCAAGTAA 0.453 Melanoma(94;603 1453 3280 32295 32951) NA 27 56 0 0 0.009535 0 0 NTRK3 4916 broad.mit.edu 37 15 88679745 88679745 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:88679745C>G uc002bme.1 - 7 880 c.718G>C c.(718-720)GAT>CAT p.D240H NTRK3_uc002bmh.2_Missense_Mutation_p.D240H|NTRK3_uc002bmf.1_Missense_Mutation_p.D240H|NTRK3_uc010upl.1_Missense_Mutation_p.D142H|NTRK3_uc010bnh.1_Missense_Mutation_p.D240H|NTRK3_uc002bmg.2_Missense_Mutation_p.D240H NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 240 Ig-like C2-type 1.|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) CAGTCCACATCAGGAAGGGGT 0.562 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 15 13 0 0 0.004007 0 0 POLG 5428 broad.mit.edu 37 15 89867077 89867077 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:89867077C>A uc002bns.3 - 12 2408 c.2126G>T c.(2125-2127)CGA>CTA p.R709L POLG_uc002bnr.3_Missense_Mutation_p.R709L NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 709 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CACTGCAGCTCGCAAGTTCTC 0.567 Colon(73;648 1203 11348 18386 27782) NA DNA_polymerases_(catalytic_subunits) 6 34 2.0095e-06 2.37243e-06 0.001984 1 0 SV2B 9899 broad.mit.edu 37 15 91769503 91769503 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:91769503T>C uc002bqv.2 + 1 401 c.10T>C c.(10-12)TAC>CAC p.Y4H SV2B_uc002bqt.2_Missense_Mutation_p.Y4H|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 4 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AATGGATGACTACAAGTATCA 0.488 NA 10 11 0 0 0.010729 0 0 TARSL2 123283 broad.mit.edu 37 15 102197239 102197240 + Splice_Site DNP CC CC TA TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:102197239_102197240CC>TA uc002bxm.2 - 18 2201 c.2146_splice c.e18-1 p.V716_splice TARSL2_uc002bxl.2_Splice_Site_p.W236_splice|TARSL2_uc010usi.1_Splice_Site NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCACTGGATACCTAGAAGAAAA 0.238 NA 17 17 0 0 0.004672 0 0 VASN 114990 broad.mit.edu 37 16 4431769 4431769 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:4431769C>T uc002cwj.1 + 2 1046 c.891C>T c.(889-891)CGC>CGT p.R297R CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 297 Extracellular (Potential). extracellular region|integral to membrane 0 CAGCTGCCCGCAACCCCTTCA 0.692 NA 9 31 0 0 0.010729 0 0 TNP2 7142 broad.mit.edu 37 16 11363161 11363161 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:11363161C>A uc002das.2 - 1 1 c.-40_splice c.e1-1 C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 TCCTCATCCTCTCCCAGCAGG 0.582 NA 7 13 2.0095e-06 2.37243e-06 0.001984 1 0 PRM2 5620 broad.mit.edu 37 16 11369761 11369761 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:11369761T>A uc002dau.1 - 2 415 c.305A>T c.(304-306)CAC>CTC p.H102L C16orf75_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank|PRM2_uc010bus.1_Missense_Mutation_p.T117S NM_002762 NP_002753 P04554 PRM2_HUMAN protamine 2 102 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding 0 GGAAGCTTAGTGCCTTCTGCA 0.537 NA 3 12 0 0 0.004672 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499558 27499558 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:27499558T>A uc002dov.1 - 23 3730 c.3690A>T c.(3688-3690)AGA>AGT p.R1230S GTF3C1_uc002dou.2_Missense_Mutation_p.R1230S NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1230 Arg/Lys-rich (basic). transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CTTTCTTCTTTCTCTTGATCT 0.537 NA 35 89 0 0 0.004878 0 0 PRSS36 146547 broad.mit.edu 37 16 31157191 31157191 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:31157191G>A uc002ebd.2 - 6 698 c.639C>T c.(637-639)CCC>CCT p.P213P PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.P213P|PRSS36_uc010vfh.1_Silent_p.P213P NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 213 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 TGAAGGGACCGGGCTGGCTGT 0.627 NA 26 26 0 0 0.004656 0 0 ITGAD 3681 broad.mit.edu 37 16 31414948 31414948 + Missense_Mutation SNP C C A rs144787223 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:31414948C>A uc002ebv.1 + 7 735 c.686C>A c.(685-687)ACG>AAG p.T229K ITGAD_uc010vfl.1_Missense_Mutation_p.T229K|ITGAD_uc010cap.1_Missense_Mutation_p.T229K|ITGAD_uc002ebw.1_Missense_Mutation_p.T40K NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 229 Extracellular (Potential).|VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TTCACGGCCACGGGCATCCTG 0.607 NA 27 22 7.07758e-08 8.95148e-08 0.004656 1 0 ABCC12 94160 broad.mit.edu 37 16 48145573 48145573 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:48145573C>A uc002efc.1 - 15 2471 c.2125G>T c.(2125-2127)GAT>TAT p.D709Y ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 709 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TGTTCAGGATCCTGGAGACAA 0.507 NA 47 130 1.23713e-20 2.082e-20 0.00361 1 0 SLC9A5 6553 broad.mit.edu 37 16 67298319 67298319 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:67298319T>G uc002esm.2 + 13 1970 c.1907T>G c.(1906-1908)GTC>GGC p.V636G SLC9A5_uc010cee.2_Missense_Mutation_p.V341G|SLC9A5_uc010vji.1_Missense_Mutation_p.V140G NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 636 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GACAAGGAGGTCTTCCAGCAG 0.587 NA 5 25 0 0 0.001855 0 0 NFATC3 4775 broad.mit.edu 37 16 68156481 68156481 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:68156481G>T uc002evo.1 + 2 905 c.695G>T c.(694-696)GGA>GTA p.G232V NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.G232V|NFATC3_uc002evm.1_Missense_Mutation_p.G232V|NFATC3_uc002evn.1_Missense_Mutation_p.G232V|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 232 3 X SP repeats. 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) TATGGACTTGGACACTCATTA 0.557 NA 12 45 0.00136819 0.00146998 0.001368 1 0 HYDIN 54768 broad.mit.edu 37 16 70908242 70908242 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:70908242G>T uc002ezr.2 - 64 11039 c.10911C>A c.(10909-10911)ATC>ATA p.I3637I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3638 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGTCCTCGATGATCTCTGTGA 0.488 NA 15 93 0.00498961 0.00523403 0.00499 1 0 RFWD3 55159 broad.mit.edu 37 16 74685929 74685929 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:74685929C>A uc002fda.2 - 3 708 c.610G>T c.(610-612)GTA>TTA p.V204L RFWD3_uc010cgq.2_Missense_Mutation_p.V204L NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 204 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 TCTTCAGATACAGGATTCCTA 0.488 NA 11 46 1.58986e-06 1.88777e-06 0.008291 1 0 PLCG2 5336 broad.mit.edu 37 16 81888159 81888159 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:81888159A>T uc002fgt.2 + 3 456 c.304A>T c.(304-306)ACT>TCT p.T102S PLCG2_uc010chg.1_Missense_Mutation_p.T102S NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 102 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CCTATATGGCACTCAGTTCGT 0.493 NA 54 38 0 0 0.00361 0 0 PLCG2 5336 broad.mit.edu 37 16 81925085 81925085 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:81925085G>A uc002fgt.2 + 11 1028 c.876G>A c.(874-876)ACG>ACA p.T292T PLCG2_uc010chg.1_Silent_p.T292T NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 292 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 AGTTCCTCACGTACCTGTTTT 0.512 NA 6 22 0 0 0.00308 0 0 SLC38A8 146167 broad.mit.edu 37 16 84067060 84067060 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:84067060G>T uc002fhg.1 - 3 403 c.403C>A c.(403-405)CTG>ATG p.L135M NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 135 amino acid transport|sodium ion transport integral to membrane 0 GTGCCAGACAGGAGGGAGTCA 0.682 NA 24 26 6.12954e-19 1.007e-18 0.004656 1 0 ADAD2 161931 broad.mit.edu 37 16 84230345 84230345 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:84230345T>G uc002fhr.2 + 9 1733 c.1619T>G c.(1618-1620)CTG>CGG p.L540R ADAD2_uc002fhq.2_Missense_Mutation_p.L622R|uc002fhs.1_Intron NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 540 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 CCCTACCTCCTGGCCTTGAAG 0.687 NA 9 53 0 0 0.004482 0 0 FOXC2 2303 broad.mit.edu 37 16 86601557 86601557 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:86601557G>C uc002fjq.2 + 1 701 c.616G>C c.(616-618)GAG>CAG p.E206Q NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 206 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding 0 CGCCCCCAAGGAGGCCGAGAA 0.726 NA Late-onset_Hereditary_Lymphedema 6 17 0 0 0.00308 0 0 DEF8 54849 broad.mit.edu 37 16 90032312 90032312 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:90032312C>T uc002fpn.1 + 13 1569 c.1480C>T c.(1480-1482)CGG>TGG p.R494W DEF8_uc002fpo.1_Missense_Mutation_p.R433W|DEF8_uc002fpp.1_Missense_Mutation_p.R423W|DEF8_uc010vpq.1_Missense_Mutation_p.R373W|DEF8_uc010vpr.1_Missense_Mutation_p.R416W|DEF8_uc002fpq.1_Missense_Mutation_p.R191W NM_207514 NP_997397 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 isoform 1 494 intracellular signal transduction zinc ion binding central_nervous_system(1) 1 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CAAGTGTGCCCGGCTCAGCCT 0.647 NA 5 17 0 0 0.000602 0 0 TP53 7157 broad.mit.edu 37 17 7577100 7577100 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:7577100T>C uc002gim.2 - 8 1032 c.838A>G c.(838-840)AGA>GGA p.R280G TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148G|TP53_uc010cng.1_Missense_Mutation_p.R148G|TP53_uc002gii.1_Missense_Mutation_p.R148G|TP53_uc010cnh.1_Missense_Mutation_p.R280G|TP53_uc010cni.1_Missense_Mutation_p.R280G|TP53_uc002gij.2_Missense_Mutation_p.R280G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(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) CGCCGGTCTCTCCCAGGACAG 0.542 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) 19 6 0 0 0.007413 0 0 USP43 124739 broad.mit.edu 37 17 9613391 9613391 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:9613391G>T uc010cod.2 + 13 2130 c.2130G>T c.(2128-2130)CGG>CGT p.R710R USP43_uc002gma.3_Silent_p.R399R|USP43_uc010vva.1_Silent_p.R705R|USP43_uc010coe.2_Silent_p.R507R|USP43_uc002gmc.3_Silent_p.R222R NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 710 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATCAGAAGCGGAACAGCATCC 0.542 NA 24 10 1.64293e-13 2.35083e-13 0.00333 1 0 AKAP10 11216 broad.mit.edu 37 17 19861631 19861631 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:19861631C>A uc002gwo.2 - 4 710 c.573G>T c.(571-573)AAG>AAT p.K191N AKAP10_uc002gwp.1_Missense_Mutation_p.K191N|AKAP10_uc010cqw.1_Missense_Mutation_p.K191N|AKAP10_uc010vze.1_Missense_Mutation_p.K112N NM_007202 NP_009133 O43572 AKA10_HUMAN A-kinase anchor protein 10 precursor 191 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity skin(1) 1 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TAGTTTCATGCTTTTTAGATG 0.418 NA 27 8 8.58068e-18 1.36631e-17 0.007291 1 0 UNC45B 146862 broad.mit.edu 37 17 33491042 33491042 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:33491042G>T uc002hja.2 + 9 1105 c.1008G>T c.(1006-1008)GGG>GGT p.G336G UNC45B_uc002hjb.2_Silent_p.G336G|UNC45B_uc002hjc.2_Silent_p.G336G|UNC45B_uc010cto.2_Silent_p.G336G NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 336 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) AGGTTGTGGGGCAGGTTCCAG 0.567 NA 79 33 9.25274e-37 1.73071e-36 0.00361 1 0 ERBB2 2064 broad.mit.edu 37 17 37865605 37865605 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:37865605C>T uc002hso.2 + 4 712 c.474C>T c.(472-474)AAC>AAT p.N158N ERBB2_uc002hsm.2_Silent_p.N128N|ERBB2_uc010cwa.2_Silent_p.N143N|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Silent_p.N158N|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.N128N|ERBB2_uc002hsn.1_Silent_p.N158N NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 158 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TCCAGCGGAACCCCCAGCTCT 0.557 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 21 28 0 0 0.010504 0 0 KRT23 25984 broad.mit.edu 37 17 39092632 39092632 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:39092632G>T uc002hvm.1 - 2 813 c.224C>A c.(223-225)ACC>AAC p.T75N KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.T75N|KRT23_uc002hvn.1_Missense_Mutation_p.T75N NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 75 Rod.|Coil 1A. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) ATTCTGCATGGTGGCCTTCCC 0.617 NA 77 24 4.18771e-30 7.6263e-30 0.00361 1 0 KAT2A 2648 broad.mit.edu 37 17 40271406 40271406 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:40271406G>A uc002hyx.2 - 6 990 c.930C>T c.(928-930)CGC>CGT p.R310R NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 310 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 TGGTTTCGTAGCGGGGGAGGC 0.587 NA 56 22 0 0 0.00361 0 0 MPP3 4356 broad.mit.edu 37 17 41909256 41909256 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:41909256C>G uc002iei.3 - 3 185 c.19G>C c.(19-21)GAC>CAC p.D7H MPP3_uc002ieh.2_Missense_Mutation_p.D32H|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.D7H|MPP3_uc010wik.1_Missense_Mutation_p.D32H|MPP3_uc010czj.1_Missense_Mutation_p.D7H NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 7 L27 1. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TTACCAGAGTCCTCCGATAGC 0.617 NA 10 5 0 0 0.006214 0 0 OSBPL7 114881 broad.mit.edu 37 17 45893993 45893993 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:45893993G>A uc002ilx.1 - 10 1067 c.864C>T c.(862-864)ACC>ACT p.T288T OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 288 lipid transport lipid binding 0 GCAGCCCACGGGTGCCCGAGG 0.662 NA 21 4 0 0 0.002299 0 0 KIF2B 84643 broad.mit.edu 37 17 51900573 51900573 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:51900573G>T uc002iua.2 + 1 335 c.179G>T c.(178-180)TGG>TTG p.W60L NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 60 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACGGTAGAGTGGGTGGAGAAA 0.552 NA 51 14 4.86159e-25 8.4331e-25 0.00361 1 0 MMD 23531 broad.mit.edu 37 17 53471758 53471758 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:53471758C>A uc002iui.2 - 7 939 c.654G>T c.(652-654)GTG>GTT p.V218V NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 218 Helical; (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 CGTAGTAATGCACTGCAGCTG 0.443 NA 62 18 6.2918e-36 1.17334e-35 0.00361 1 0 LPO 4025 broad.mit.edu 37 17 56343529 56343529 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:56343529T>A uc002ivt.2 + 11 1851 c.1535T>A c.(1534-1536)CTG>CAG p.L512Q LPO_uc010wns.1_Missense_Mutation_p.L453Q|LPO_uc010dcp.2_Missense_Mutation_p.L429Q|LPO_uc010dcq.2_Missense_Mutation_p.L183Q|LPO_uc010dcr.2_Missense_Mutation_p.L75Q NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 512 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 ATTGATCCTCTGGTGCGGGGC 0.527 NA 10 4 0 0 0.008291 0 0 SCN4A 6329 broad.mit.edu 37 17 62018356 62018356 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:62018356C>A uc002jds.1 - 24 5363 c.5286G>T c.(5284-5286)GGG>GGT p.G1762G NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1762 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GGGCGTCATCCCCGCTGCCGT 0.622 NA 33 15 7.61165e-28 1.35829e-27 0.003755 1 0 AFMID 125061 broad.mit.edu 37 17 76198623 76198623 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:76198623C>T uc002jva.3 + 3 213 c.198C>T c.(196-198)GTC>GTT p.V66V AFMID_uc010dhj.2_Silent_p.V66V|AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Silent_p.V66V NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 66 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) TGCTGCATGTCCCCTATGGAG 0.587 NA 12 51 0 0 0.004007 0 0 RNF213 57674 broad.mit.edu 37 17 78350335 78350335 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr17:78350335A>C uc002jyh.1 + 27 7862 c.7639A>C c.(7639-7641)ACC>CCC p.T2547P uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T929P NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTCCCCAGCCACCATGGCGGT 0.552 NA 3 51 0 0 0.009096 0 0 LAMA1 284217 broad.mit.edu 37 18 6961967 6961967 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:6961967C>A uc002knm.2 - 52 7523 c.7429G>T c.(7429-7431)GTG>TTG p.V2477L LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.V1953L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2477 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTTTTCTCACTCCATAGGAA 0.388 NA 34 192 6.29468e-14 9.15456e-14 0.004878 1 0 RALBP1 10928 broad.mit.edu 37 18 9533746 9533746 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:9533746G>T uc002kob.2 + 9 1846 c.1623G>T c.(1621-1623)GAG>GAT p.E541D RALBP1_uc002koc.2_Missense_Mutation_p.E541D NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 541 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 ACTCCTCCGAGAGCGAGAGCG 0.537 NA 70 20 2.84776e-26 5.00979e-26 0.00361 1 0 C18orf34 374864 broad.mit.edu 37 18 30903460 30903461 + Missense_Mutation DNP GG GG TT rs142817345 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:30903460_30903461GG>TT uc002kxn.2 - 10 1158_1159 c.1016_1017CC>AA c.(1015-1017)GCC>GAA p.A339E C18orf34_uc010xbr.1_Missense_Mutation_p.A339E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A339E|C18orf34_uc002kxp.2_Missense_Mutation_p.A339E NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 339 Potential. ovary(1) 1 CTTACTTGTAGGCCTCTATGGT 0.287 NA 5 17 0 0 0.004672 0 0 ASXL3 80816 broad.mit.edu 37 18 31324221 31324221 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:31324221C>A uc010dmg.1 + 12 4464 c.4409C>A c.(4408-4410)CCG>CAG p.P1470Q ASXL3_uc002kxq.2_Missense_Mutation_p.P1177Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CGATCAATTCCGTGTAAAGTC 0.517 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 28 1.55795e-14 2.29806e-14 0.012319 1 0 PIK3C3 5289 broad.mit.edu 37 18 39537583 39537583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:39537583G>T uc002lap.2 + 2 175 c.117G>T c.(115-117)CTG>CTT p.L39L PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Silent_p.L39L NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 39 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AAGCTGTCCTGGAAGACCCAA 0.403 NSCLC(37;552 1060 2683 16430 37914) NA TSP Lung(28;0.18) 11 19 2.80697e-09 3.67749e-09 0.010729 1 0 ALPK2 115701 broad.mit.edu 37 18 56247074 56247074 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:56247074G>T uc002lhj.3 - 4 1148 c.934C>A c.(934-936)CCA>ACA p.P312T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 312 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GTTATCTCTGGGCAAAGTTCA 0.478 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 51 1.67942e-08 2.15925e-08 0.006122 1 0 ZNF532 55205 broad.mit.edu 37 18 56586014 56586014 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:56586014G>T uc002lho.2 + 4 1042 c.495G>T c.(493-495)ACG>ACT p.T165T ZNF532_uc002lhp.2_Silent_p.T163T|ZNF532_uc010xeg.1_Silent_p.T163T|ZNF532_uc002lhr.2_Silent_p.T163T|ZNF532_uc002lhs.2_Silent_p.T163T NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 ATGTGTTGACGGGGTCGGCTC 0.527 NA 20 59 1.15919e-05 1.3257e-05 0.008871 1 0 CDH7 1005 broad.mit.edu 37 18 63530152 63530152 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:63530152G>C uc002ljz.2 + 11 2188 c.1863G>C c.(1861-1863)TTG>TTC p.L621F CDH7_uc002lka.2_Missense_Mutation_p.L621F|CDH7_uc002lkb.2_Missense_Mutation_p.L621F NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 621 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TGACATTATTGGGTAGGTACT 0.498 NA 10 20 0 0 0.010729 0 0 RTTN 25914 broad.mit.edu 37 18 67684766 67684766 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:67684766C>A uc002lkp.2 - 46 6366 c.6298G>T c.(6298-6300)GGC>TGC p.G2100C RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.G1188C|RTTN_uc002lkn.2_Missense_Mutation_p.G90C|RTTN_uc010dqp.2_Missense_Mutation_p.G352C NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2100 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TCTAGACAGCCATCAAGCCTC 0.378 NA 17 32 4.14922e-12 5.75148e-12 0.004007 1 0 ZNF236 7776 broad.mit.edu 37 18 74607043 74607043 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:74607043G>T uc002lmi.2 + 10 1684 c.1486G>T c.(1486-1488)GAC>TAC p.D496Y ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 496 C2H2-type 10. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAAGCCCAGCGACCTGGTCCG 0.652 NA 23 34 3.28513e-13 4.66834e-13 0.003954 1 0 C19orf28 126321 broad.mit.edu 37 19 3551130 3551130 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:3551130C>A uc002lxz.2 - 2 531 c.361G>T c.(361-363)GCC>TCC p.A121S C19orf28_uc002lxw.2_Missense_Mutation_p.A121S|C19orf28_uc002lxx.2_Missense_Mutation_p.A121S|C19orf28_uc002lxy.2_Missense_Mutation_p.A112S NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 121 transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGGCGTGGCCGCCCCACAG 0.657 NA 15 5 3.41278e-10 4.56754e-10 0.00499 1 0 DUS3L 56931 broad.mit.edu 37 19 5788169 5788169 + Nonsense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:5788169G>A uc002mdc.2 - 5 1058 c.961C>T c.(961-963)CGA>TGA p.R321* DUS3L_uc002mdd.2_Nonsense_Mutation_p.R79*|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 321 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 CAGATCCGTCGGAAGGGCAGG 0.502 NA 29 9 0 0 0.010818 0 0 ACTL9 284382 broad.mit.edu 37 19 8808576 8808576 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:8808576C>T uc002mkl.2 - 1 597 c.476G>A c.(475-477)CGC>CAC p.R159H NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 159 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 TAGCTTCTCGCGGTTGGTGGC 0.667 NA 10 30 0 0 0.00245 0 0 MUC16 94025 broad.mit.edu 37 19 9011493 9011493 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9011493G>T uc002mkp.2 - 36 38944 c.38740C>A c.(38740-38742)CCT>ACT p.P12914T MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCTTCTCAGGCCTGGGGAAG 0.522 NA 54 23 6.60958e-23 1.13699e-22 0.00361 1 0 MUC16 94025 broad.mit.edu 37 19 9049248 9049248 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9049248A>T uc002mkp.2 - 5 32587 c.32383T>A c.(32383-32385)TCA>ACA p.S10795T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10797 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGACCATTGAGGTCACCAAC 0.493 NA 76 25 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9062525 9062525 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:9062525G>A uc002mkp.2 - 3 25125 c.24921C>T c.(24919-24921)ACC>ACT p.T8307T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8309 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGTCTGTGGTTATCACCA 0.498 NA 10 35 0 0 0.008291 0 0 ATG4D 84971 broad.mit.edu 37 19 10657598 10657598 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:10657598C>T uc002mov.2 + 4 697 c.577C>T c.(577-579)CGC>TGC p.R193C ATG4D_uc010xlg.1_Missense_Mutation_p.R216C|ATG4D_uc010xlh.1_Missense_Mutation_p.R130C|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 193 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGGGCCTGCCCGCTGGATGCC 0.716 NA 20 3 0 0 0.010504 0 0 MAST3 23031 broad.mit.edu 37 19 18255441 18255441 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:18255441G>A uc002nhz.3 + 22 2663 c.2663G>A c.(2662-2664)GGC>GAC p.G888D NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 888 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 AGTGGTGGCGGCAGTGGGGGC 0.677 NA 3 50 0 0 0.004672 0 0 ZNF98 148198 broad.mit.edu 37 19 22575523 22575523 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:22575523G>T uc002nqt.2 - 4 636 c.514C>A c.(514-516)CAT>AAT p.H172N NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CCTATCTTATGTCTGTTTGAA 0.299 NA 8 3 1.12685e-05 1.2911e-05 0.004482 1 0 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 NA 4 29 0 0 0.001984 0 0 ZNF536 9745 broad.mit.edu 37 19 31040278 31040278 + Missense_Mutation SNP C C A rs148378803 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:31040278C>A uc002nsu.1 + 4 3890 c.3752C>A c.(3751-3753)CCG>CAG p.P1251Q ZNF536_uc010edd.1_Missense_Mutation_p.P1251Q NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTGCCAAAGCCGGAGCGGGGG 0.612 NA 17 3 3.57192e-18 5.79155e-18 0.006122 1 0 CYP2A7 1549 broad.mit.edu 37 19 41386406 41386406 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:41386406G>A uc002opm.2 - 3 1013 c.471C>T c.(469-471)ATC>ATT p.I157I CYP2A7_uc002opo.2_Silent_p.I157I|CYP2A7_uc002opn.2_Silent_p.I106I NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 157 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) GGATGGCCTCGATGAGGAAGC 0.662 NA 18 18 0 0 0.008871 0 0 PSG7 5676 broad.mit.edu 37 19 43433838 43433838 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:43433838A>G uc002ovl.3 - 4 567 c.465T>C c.(463-465)AAT>AAC p.N155N PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.N33N NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 155 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) TGGGGTTGAAATTGCTGCTGG 0.522 NA 127 31 0 0 0.00361 0 0 ZNF229 7772 broad.mit.edu 37 19 44934092 44934092 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:44934092C>A uc002oze.1 - 6 1298 c.864G>T c.(862-864)TTG>TTT p.L288F ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.L282F NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GTTTCTCTTTCAAAGGTACTC 0.448 NA 48 6 2.64894e-19 4.38665e-19 0.00361 1 0 DKKL1 27120 broad.mit.edu 37 19 49877992 49877992 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:49877992A>G uc002pnk.2 + 5 650 c.436A>G c.(436-438)AAG>GAG p.K146E NM_014419 NP_055234 Q9UK85 DKKL1_HUMAN dickkopf-like 1 precursor 146 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity 0 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) GATGGAGGAGAAGGAGGCCCT 0.592 NA 37 21 0 0 0.007835 0 0 GPR32 2854 broad.mit.edu 37 19 51274608 51274608 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:51274608G>T uc010ycf.1 + 1 751 c.751G>T c.(751-753)GCC>TCC p.A251S NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 251 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGGGTCCATGCCAACCGGCC 0.617 Esophageal Squamous(113;152 1581 5732 15840 44398) NA 29 12 2.81731e-10 3.77873e-10 0.010818 1 0 HAS1 3036 broad.mit.edu 37 19 52222568 52222568 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:52222568G>T uc002pxo.1 - 2 628 c.593C>A c.(592-594)GCG>GAG p.A198E HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.A163E|HAS1_uc002pxn.1_Missense_Mutation_p.A205E|HAS1_uc002pxp.1_Missense_Mutation_p.A197E NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 198 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCTCACCAGCGCCTCCACTGC 0.572 NSCLC(132;636 2450 45807 47979) NA 10 4 4.68919e-08 5.96719e-08 0.008291 1 0 ZNF665 79788 broad.mit.edu 37 19 53669454 53669454 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:53669454C>G uc010eqm.1 - 4 389 c.289G>C c.(289-291)GAC>CAC p.D97H NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) CACTCAAAGTCGTATGTATTT 0.403 NA 115 32 0 0 0.00361 0 0 CACNG8 59283 broad.mit.edu 37 19 54485474 54485474 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:54485474G>C uc002qcs.1 + 4 752 c.646G>C c.(646-648)GAG>CAG p.E216Q MIR935_hsa-mir-935|MI0005757_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 217 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CATCCTGGCCGAGGTGATAGG 0.582 NA 17 1 0 0 0.00499 0 0 LILRB5 10990 broad.mit.edu 37 19 54760174 54760174 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:54760174C>A uc002qex.2 - 4 498 c.387G>T c.(385-387)CTG>CTT p.L129L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.L120L|LILRB5_uc002qey.2_Silent_p.L129L|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 129 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGACTCGGCAGGGCTAAAA 0.552 NA 45 10 3.70713e-34 6.83124e-34 0.00361 1 0 KIR2DL3 3804 broad.mit.edu 37 19 55263202 55263202 + Nonsense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:55263202A>T uc002qgv.2 + 6 835 c.817A>T c.(817-819)AAA>TAA p.K273* KIR2DL3_uc002qgx.2_Nonsense_Mutation_p.K273*|KIR2DL3_uc002qgy.2_Nonsense_Mutation_p.K175*|KIR2DL3_uc010erw.1_Nonsense_Mutation_p.K273*|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 273 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) CTGCAACAAAAAAAGTAAGTC 0.443 NA 28 11 0 0 0.007291 0 0 C19orf51 352909 broad.mit.edu 37 19 55671298 55671298 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:55671298C>A uc002qji.1 - 10 1166 c.1132G>T c.(1132-1134)GGC>TGC p.G378C TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.G193C|C19orf51_uc002qjj.1_Missense_Mutation_p.G425C|C19orf51_uc002qjk.1_Missense_Mutation_p.G324C|C19orf51_uc002qjl.1_Missense_Mutation_p.G445C Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 378 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TGGAATCGGCCGTTGTAGCAG 0.483 NA 26 11 2.61193e-14 3.83454e-14 0.009535 1 0 ZIM2 23619 broad.mit.edu 37 19 57286128 57286128 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:57286128G>A uc002qnr.2 - 11 1894 c.1512C>T c.(1510-1512)GGC>GGT p.G504G uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.G300G|ZIM2_uc010ygr.1_Silent_p.G300G|ZIM2_uc002qnq.2_Silent_p.G504G|ZIM2_uc010etp.2_Silent_p.G504G|ZIM2_uc010ygs.1_Silent_p.G504G NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 504 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ATGAGGGTCGGCCGAAACATT 0.438 NA 37 13 0 0 0.004289 0 0 ZNF416 55659 broad.mit.edu 37 19 58084849 58084849 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58084849C>T uc002qpf.2 - 4 594 c.423G>A c.(421-423)AAG>AAA p.K141K ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CACTATGATGCTTCTGGTCCT 0.517 NA 24 6 0 0 0.003954 0 0 ZNF671 79891 broad.mit.edu 37 19 58238788 58238788 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58238788G>C uc002qpz.3 - 1 208 c.109C>G c.(109-111)CCT>GCT p.P37A ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCGCCATAGGACCGTGGGCG 0.687 NA 15 3 0 0 0.006122 0 0 ZNF497 162968 broad.mit.edu 37 19 58867550 58867550 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr19:58867550G>A uc002qsh.1 - 3 1641 c.1452C>T c.(1450-1452)AAC>AAT p.N484N A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.N484N|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 484 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCTCGTTGAGGTTGCAACGGT 0.701 NA 10 6 0 0 0.010729 0 0 PXDN 7837 broad.mit.edu 37 2 1667392 1667392 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:1667392T>A uc002qxa.2 - 12 1616 c.1552A>T c.(1552-1554)ACT>TCT p.T518S PXDN_uc002qxb.1_Missense_Mutation_p.T518S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 518 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGCTGCACAGTCAGGTGGGCC 0.532 NA 42 36 0 0 0.00361 0 0 APOB 338 broad.mit.edu 37 2 21229598 21229598 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:21229598A>G uc002red.2 - 26 10270 c.10142T>C c.(10141-10143)TTA>TCA p.L3381S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3381 LDL receptor binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTGCCCTCTAATTTGTACTG 0.408 NA 58 61 0 0 0.00361 0 0 BRE 9577 broad.mit.edu 37 2 28521328 28521329 + Missense_Mutation DNP GG GG TT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:28521328_28521329GG>TT uc002rlr.2 + 12 1376_1377 c.1058_1059GG>TT c.(1057-1059)TGG>TTT p.W353F BRE_uc002rlp.1_Missense_Mutation_p.W353F|BRE_uc002rlq.2_Missense_Mutation_p.W353F|BRE_uc002rls.2_Missense_Mutation_p.W353F|BRE_uc002rlt.2_Missense_Mutation_p.W353F|BRE_uc002rlu.2_Missense_Mutation_p.W353F|BRE_uc002rlv.2_Missense_Mutation_p.W215F|BRE_uc002rlx.2_RNA NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 353 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) AGCCCCAGATGGGATGGAAATG 0.391 NA 43 46 0 0 0.004672 0 0 BIRC6 57448 broad.mit.edu 37 2 32836633 32836633 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:32836633A>G uc010ezu.2 + 73 14512 c.14378A>G c.(14377-14379)CAT>CGT p.H4793R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4793 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATGTCTCACCATGCAGCAGCT 0.458 Pancreas(94;175 1509 16028 18060 45422) NA 8 17 0 0 0.006214 0 0 PREPL 9581 broad.mit.edu 37 2 44553863 44553863 + Silent SNP C C A rs140525819 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:44553863C>A uc002ruf.2 - 10 1769 c.1734G>T c.(1732-1734)GCG>GCT p.A578A PREPL_uc002rug.2_Silent_p.A512A|PREPL_uc002ruh.2_Silent_p.A516A|PREPL_uc010fax.2_Silent_p.A578A|PREPL_uc002rui.3_Silent_p.A489A|PREPL_uc002ruj.1_Silent_p.A489A|PREPL_uc002ruk.1_Silent_p.A578A NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 578 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCAAAGTCACCGCTCTCACCA 0.443 NA 18 54 5.26018e-13 7.42402e-13 0.012319 1 0 MCFD2 90411 broad.mit.edu 37 2 47136246 47136246 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:47136246G>A uc002rvk.2 - 2 159 c.65C>T c.(64-66)CCA>CTA p.P22L MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.P20L|MCFD2_uc010yof.1_Intron NM_139279 NP_644808 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 22 post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) CCTGGCGCCTGGGGCACAAAA 0.582 NA 11 30 0 0 0.001368 0 0 KLRAQ1 129285 broad.mit.edu 37 2 48688331 48688331 + Silent SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:48688331C>G uc002rwm.2 + 7 839 c.654C>G c.(652-654)TCC>TCG p.S218S KLRAQ1_uc002rwi.1_Silent_p.S218S|KLRAQ1_uc002rwj.2_Silent_p.S218S|KLRAQ1_uc002rwl.2_Silent_p.S172S|KLRAQ1_uc002rwk.2_Silent_p.S218S|KLRAQ1_uc010yok.1_Silent_p.S218S NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 218 ovary(1) 1 TAGAGGAATCCTTATCAATCA 0.308 NA 18 29 0 0 0.007413 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898788 48898788 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:48898788C>T uc010yol.1 + 7 3316 c.3269C>T c.(3268-3270)ACG>ATG p.T1090M STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.T1137M|GTF2A1L_uc002rws.1_Missense_Mutation_p.T433M|GTF2A1L_uc010yom.1_Missense_Mutation_p.T399M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.T433M NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1090 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGTTTGACACGGATAATGTT 0.343 NA 46 74 0 0 0.00361 0 0 ARHGAP25 9938 broad.mit.edu 37 2 68962337 68962337 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:68962337C>T uc002seu.2 + 1 370 c.6C>T c.(4-6)TCC>TCT p.S2S ARHGAP25_uc010yqk.1_Intron|ARHGAP25_uc010fdg.2_Silent_p.S2S|ARHGAP25_uc010yql.1_Silent_p.S2S NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 2 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GCAAAATGTCCCTAAAATTGC 0.433 NA 12 57 0 0 0.010729 0 0 CLEC4F 165530 broad.mit.edu 37 2 71046978 71046978 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:71046978C>A uc002shf.2 - 2 184 c.107G>T c.(106-108)AGG>ATG p.R36M CLEC4F_uc010yqv.1_Missense_Mutation_p.R36M NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 36 Cytoplasmic (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 CTGAACGAGCCTCGGTATCTT 0.567 Colon(107;10 2157 6841 26035) NA 18 9 3.51602e-12 4.90662e-12 0.008871 1 0 ALMS1 7840 broad.mit.edu 37 2 73827957 73827957 + Missense_Mutation SNP G G T rs61741524 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:73827957G>T uc002sje.1 + 20 11935 c.11824G>T c.(11824-11826)GGT>TGT p.G3942C ALMS1_uc002sjf.1_Missense_Mutation_p.G3898C|ALMS1_uc002sjh.1_Missense_Mutation_p.G3328C NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3940 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GCTCTTTACCGGTTATCCTGA 0.388 NA 7 20 0.000274275 0.000300927 0.004482 1 0 WDR54 84058 broad.mit.edu 37 2 74652753 74652753 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:74652753T>C uc002slb.2 + 10 990 c.930T>C c.(928-930)TTT>TTC p.F310F NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 310 0 GTGCTCGATTTTGTGATTCCT 0.577 NA 45 98 0 0 0.00361 0 0 REG1A 5967 broad.mit.edu 37 2 79348687 79348687 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:79348687G>T uc002snz.2 + 3 168 c.65_splice c.e3-1 p.G22_splice REG1A_uc010ffx.1_Splice_Site_p.G22_splice|REG1A_uc010ysd.1_Splice_Site_p.G22_splice NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TTCTTTTTCAGGCCAAGAGGC 0.493 NA 55 176 1.1362e-29 2.0511e-29 0.00361 1 0 CAPG 822 broad.mit.edu 37 2 85628374 85628374 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:85628374C>T uc002spl.1 - 5 680 c.430G>A c.(430-432)GGG>AGG p.G144R CAPG_uc002spm.1_Missense_Mutation_p.G144R|CAPG_uc010ysq.1_Missense_Mutation_p.G144R|CAPG_uc010fgi.1_Missense_Mutation_p.G144R|CAPG_uc010fgj.1_Missense_Mutation_p.G38R NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 144 Nuclear localization signal (Potential). barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 TTCTTCTTCCCCTTCACCTGG 0.597 NA 20 58 0 0 0.002299 0 0 ANKRD20B 729171 broad.mit.edu 37 2 95481152 95481152 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:95481152A>G uc010fhq.1 - 2 1228 c.836T>C c.(835-837)CTA>CCA p.L279P ANKRD20B_uc010fhp.2_RNA NM_001012421 NP_001012421 ankyrin repeat domain 20 family, member A2 0 TGTTTTTCTTAGGTCATTTTG 0.343 NA 87 67 0 0 0.00361 0 0 POLR1B 84172 broad.mit.edu 37 2 113300233 113300233 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:113300233C>T uc002thw.2 + 1 742 c.162C>T c.(160-162)CTC>CTT p.L54L POLR1B_uc010fkn.2_Silent_p.L54L|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Silent_p.L54L|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc010yxn.1_Silent_p.L92L|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_5'UTR NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 54 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 ACGAGGGTCTCGGCCTCGCGG 0.672 Ovarian(16;256 576 9537 23969 41147) NA 15 16 0 0 0.004007 0 0 MARCO 8685 broad.mit.edu 37 2 119726804 119726804 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:119726804C>A uc002tln.1 + 2 298 c.166C>A c.(166-168)CTC>ATC p.L56I MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 56 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CCTGATCCTGCTCACCGCTGG 0.602 GBM(8;18 374 7467 11269 32796) NA 16 46 1.3612e-06 1.62872e-06 0.003163 1 0 POTEF 728378 broad.mit.edu 37 2 130832725 130832725 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:130832725C>A uc010fmh.2 - 17 2720 c.2320G>T c.(2320-2322)GGC>TGC p.G774C NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 774 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GTGATGATGCCGTGTTCCATG 0.582 NA 33 52 3.38236e-24 5.85082e-24 0.006999 1 0 PLEKHB2 55041 broad.mit.edu 37 2 132110713 132110713 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:132110713G>T uc002tsh.2 + 7 1104 c.544G>T c.(544-546)GTG>TTG p.V182L Q96CS7 PKHB2_HUMAN SubName: Full=Putative uncharacterized protein PLEKHB2; 47 PH. membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) GCAGATTTCTGTGCTCCTACC 0.498 NA 3 3 0.00307968 0.00325252 0.00308 1 0 THSD7B 80731 broad.mit.edu 37 2 137988681 137988681 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:137988681C>A uc002tva.1 + 7 1698 c.1698C>A c.(1696-1698)CCC>CCA p.P566P THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.P456P NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGAAATTCCCTGCCGAATGG 0.483 NA 9 22 4.68919e-08 5.96719e-08 0.008291 1 0 THSD7B 80731 broad.mit.edu 37 2 138376014 138376014 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:138376014G>C uc002tva.1 + 18 3531 c.3531G>C c.(3529-3531)AGG>AGC p.R1177S THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AAGGCGTCAGGACCCGCCTGC 0.502 NA 7 8 0 0 0.00308 0 0 LRP1B 53353 broad.mit.edu 37 2 140995809 140995809 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:140995809C>A uc002tvj.1 - 89 14444 c.13472G>T c.(13471-13473)GGC>GTC p.G4491V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4491 Cytoplasmic (Potential). 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) AGATGGATTGCCAATTTCTAC 0.313 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 23 21 3.62473e-10 4.84077e-10 0.012319 1 0 LRP1B 53353 broad.mit.edu 37 2 141458109 141458109 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:141458109C>A uc002tvj.1 - 41 7481 c.6509G>T c.(6508-6510)TGT>TTT p.C2170F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2170 Extracellular (Potential).|EGF-like 5. 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) TCCATGGGCACAAGCACAAGT 0.403 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 27 71 3.65163e-15 5.50403e-15 0.00632 1 0 GTDC1 79712 broad.mit.edu 37 2 144966344 144966344 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:144966344C>A uc002tvp.2 - 4 284 c.5G>T c.(4-6)AGT>ATT p.S2I GTDC1_uc002tvo.2_Missense_Mutation_p.S2I|GTDC1_uc002tvq.2_Missense_Mutation_p.S2I|GTDC1_uc002tvr.2_Missense_Mutation_p.S2I|GTDC1_uc010fnn.2_Missense_Mutation_p.S2I|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.S2I NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 2 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) GATGAGGATACTCATTGGCCC 0.343 NA 12 33 0.000151284 0.000167764 0.001855 1 0 LYPD6B 130576 broad.mit.edu 37 2 150069541 150069541 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:150069541A>T uc002twv.1 + 6 765 c.364A>T c.(364-366)AGC>TGC p.S122C LYPD6B_uc002tww.1_Missense_Mutation_p.S84C|LYPD6B_uc002twx.1_Missense_Mutation_p.S84C NM_177964 NP_808879 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 98 UPAR/Ly6. anchored to membrane|plasma membrane 0 TCACTTCACCAGCCACGGAAG 0.408 NA 19 21 0 0 0.008871 0 0 GALNT13 114805 broad.mit.edu 37 2 155252566 155252566 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:155252566G>T uc002tyr.3 + 10 1787 c.1220G>T c.(1219-1221)TGT>TTT p.C407F GALNT13_uc002tyt.3_Missense_Mutation_p.C407F|GALNT13_uc010foc.1_Missense_Mutation_p.C226F|GALNT13_uc010fod.2_Missense_Mutation_p.C160F NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 407 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AATCTGAAGTGTAAGCCCTTT 0.373 NA 13 29 1.5842e-08 2.04105e-08 0.001855 1 0 UPP2 151531 broad.mit.edu 37 2 158978086 158978086 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:158978086C>A uc002tzp.2 + 5 814 c.620C>A c.(619-621)CCA>CAA p.P207Q UPP2_uc002tzo.2_Missense_Mutation_p.P264Q NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 207 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 CCCAACTTCCCAACCCTCGTT 0.393 NA 15 65 6.31663e-08 8.00536e-08 0.003163 1 0 LY75 4065 broad.mit.edu 37 2 160697335 160697335 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:160697335G>T uc002ubc.3 - 25 3481 c.3412C>A c.(3412-3414)CTG>ATG p.L1138M LY75_uc002ubb.3_Missense_Mutation_p.L1138M|LY75_uc010fos.2_Missense_Mutation_p.L1138M NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1138 Extracellular (Potential).|C-type lectin 7. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) ATGCTCACCAGCTGCATGTTA 0.443 NA 51 60 2.52991e-16 3.90814e-16 0.00361 1 0 TBR1 10716 broad.mit.edu 37 2 162274207 162274207 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:162274207G>C uc002ubw.1 + 2 1015 c.713G>C c.(712-714)AGT>ACT p.S238T TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 238 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CCTTTTTTAAGTTTTAACATT 0.398 NA 60 72 0 0 0.00361 0 0 DNAJC10 54431 broad.mit.edu 37 2 183584886 183584886 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:183584886T>C uc002uow.1 + 4 772 c.357T>C c.(355-357)CGT>CGC p.R119R DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.R119R|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 119 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACTATTATCGTTATGATTTTG 0.323 Pancreas(56;860 1183 25669 35822 48585) NA 23 54 0 0 0.004656 0 0 PLCL1 5334 broad.mit.edu 37 2 198950857 198950857 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:198950857T>C uc010fsp.2 + 2 2907 c.2616T>C c.(2614-2616)TAT>TAC p.Y872Y PLCL1_uc002uuv.3_Silent_p.Y793Y NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 872 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTCGGGAATATACCATGCTCA 0.408 NA 23 10 0 0 0.00333 0 0 AOX1 316 broad.mit.edu 37 2 201473757 201473757 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:201473757G>T uc002uvx.2 + 11 1059 c.958G>T c.(958-960)GCT>TCT p.A320S AOX1_uc010zhf.1_5'Flank|AOX1_uc010fsu.2_5'Flank NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 320 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGACATTTTGGCTGATGTAGT 0.498 NA 16 9 0.006122 0.00641107 0.006122 1 0 ALS2CR11 151254 broad.mit.edu 37 2 202352544 202352544 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:202352544A>T uc002uye.2 - 15 1711 c.1663T>A c.(1663-1665)TTA>ATA p.L555I ALS2CR11_uc002uyf.2_Missense_Mutation_p.L1752I|ALS2CR11_uc010fti.2_3'UTR NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 555 large_intestine(1)|ovary(1)|skin(1) 3 CTTTTTCCTAAAAGCCTTGAT 0.353 NA 49 138 0 0 0.00361 0 0 CPS1 1373 broad.mit.edu 37 2 211465353 211465353 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:211465353A>T uc002vee.3 + 15 1756 c.1624A>T c.(1624-1626)ATG>TTG p.M542L CPS1_uc010fur.2_Missense_Mutation_p.M548L|CPS1_uc010fus.2_Missense_Mutation_p.M91L NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 542 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAGTCCATTATGGCTACGGA 0.403 NA 24 82 0 0 0.003954 0 0 ATIC 471 broad.mit.edu 37 2 216213880 216213880 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:216213880G>T uc002vex.3 + 15 1741 c.1567G>T c.(1567-1569)GAG>TAG p.E523* ATIC_uc010zjo.1_Nonsense_Mutation_p.E464*|ATIC_uc002vey.3_Nonsense_Mutation_p.E522* NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 523 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CACTGAGGCAGAGAAGAAGGA 0.448 NA T ALK ALCL 25 30 1.42536e-11 1.95829e-11 0.004656 1 0 WNT10A 80326 broad.mit.edu 37 2 219754782 219754782 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:219754782G>T uc002vjd.1 + 3 916 c.453G>T c.(451-453)CTG>CTT p.L151L NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 151 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTGTGCCCTGGGCAAACTGA 0.612 NA 8 43 0.00307968 0.00325252 0.00308 1 0 ANKZF1 55139 broad.mit.edu 37 2 220098104 220098104 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:220098104A>T uc002vkg.2 + 7 942 c.768A>T c.(766-768)TCA>TCT p.S256S ANKZF1_uc010zkv.1_Silent_p.S200S|ANKZF1_uc010zkw.1_Silent_p.S46S|ANKZF1_uc002vkh.2_Silent_p.S46S|ANKZF1_uc002vki.2_Silent_p.S256S|ANKZF1_uc002vkj.1_Silent_p.S244S NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 256 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGGCCATCACACTCTGCTG 0.522 NA 11 23 0 0 0.010729 0 0 SPEG 10290 broad.mit.edu 37 2 220326615 220326615 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:220326615T>C uc010fwg.2 + 7 2452 c.2452T>C c.(2452-2454)TCC>CCC p.S818P SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.S26P|SPEG_uc002vln.1_Missense_Mutation_p.S26P|SPEG_uc002vlp.1_Missense_Mutation_p.S26P|SPEG_uc002vlq.2_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 818 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGGTCTACATCCCCTTTCAG 0.622 NA 21 84 0 0 0.004656 0 0 EPHA4 2043 broad.mit.edu 37 2 222298988 222298988 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:222298988C>A uc002vmq.2 - 14 2412 c.2370G>T c.(2368-2370)TGG>TGT p.W790C EPHA4_uc002vmr.2_Missense_Mutation_p.W790C|EPHA4_uc010zlm.1_Missense_Mutation_p.W731C|EPHA4_uc010zln.1_Missense_Mutation_p.W790C NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 790 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTGGCGCAGTCCACCGGATAG 0.448 NA 23 73 9.86323e-18 1.56651e-17 0.003954 1 0 KCNE4 23704 broad.mit.edu 37 2 223917913 223917913 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:223917913G>T uc002vnl.3 + 2 519 c.365G>T c.(364-366)GGG>GTG p.G122V NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 122 Cytoplasmic (Potential). integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCATGGAAGGGGACAGCGTG 0.667 NA 7 30 3.09899e-07 3.77347e-07 0.004482 1 0 DOCK10 55619 broad.mit.edu 37 2 225761065 225761065 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:225761065A>G uc010fwz.1 - 4 602 c.363T>C c.(361-363)CAT>CAC p.H121H DOCK10_uc002vob.2_Silent_p.H115H|DOCK10_uc002vod.1_Silent_p.H121H NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 121 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGTTTACCACATGCCACTGGG 0.274 NA 7 6 0 0 0.00308 0 0 SP140 11262 broad.mit.edu 37 2 231090583 231090583 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:231090583G>T uc002vql.2 + 1 139 c.24G>T c.(22-24)GGG>GGT p.G8G SP140_uc010zma.1_RNA|SP140_uc002vqj.2_Silent_p.G8G|SP140_uc002vqk.2_Silent_p.G8G|SP140_uc002vqn.2_Silent_p.G8G|SP140_uc002vqm.2_Silent_p.G8G|SP140_uc010fxl.2_Silent_p.G8G NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 8 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCCAGCAGGGGCAGATGGCAA 0.547 NA 15 10 4.7546e-09 6.20296e-09 0.004007 1 0 COL6A3 1293 broad.mit.edu 37 2 238280799 238280799 + Missense_Mutation SNP G G C rs113247852 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:238280799G>C uc002vwl.2 - 9 4146 c.3861C>G c.(3859-3861)AAC>AAG p.N1287K COL6A3_uc002vwo.2_Missense_Mutation_p.N1081K|COL6A3_uc010znj.1_Missense_Mutation_p.N680K|COL6A3_uc002vwq.2_Missense_Mutation_p.N1081K|COL6A3_uc002vwr.2_Missense_Mutation_p.N880K NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1287 VWFA 7.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGGAATGGGCGTTCAGCAGGA 0.602 NA 25 23 0 0 0.005443 0 0 KIF1A 547 broad.mit.edu 37 2 241712631 241712631 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:241712631G>T uc002vzy.2 - 13 1226 c.1080C>A c.(1078-1080)ATC>ATA p.I360I KIF1A_uc010fzk.2_Silent_p.I360I|KIF1A_uc002vzz.1_Silent_p.I360I NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 360 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTCCTCATTGATGACAGCAT 0.617 NA 12 35 0.000978159 0.00105825 0.010729 1 0 D2HGDH 728294 broad.mit.edu 37 2 242707130 242707130 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:242707130G>T uc002wce.1 + 10 1485 c.1312G>T c.(1312-1314)GGT>TGT p.G438C D2HGDH_uc010fzq.1_Missense_Mutation_p.G304C|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.G137C NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 438 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 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) TCCAGGAGATGGTAACCTGCA 0.692 NA 11 41 4.36969e-10 5.81066e-10 0.001855 1 0 CSRP2BP 57325 broad.mit.edu 37 20 18143374 18143374 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:18143374C>T uc002wqj.2 + 7 2078 c.1456C>T c.(1456-1458)CCG>TCG p.P486S CSRP2BP_uc002wqk.2_Missense_Mutation_p.P358S|CSRP2BP_uc010zru.1_Missense_Mutation_p.P357S NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 486 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 TGCCATGACTCCGGAAGCTCG 0.502 NA 19 55 0 0 0.008871 0 0 DNMT3B 1789 broad.mit.edu 37 20 31388040 31388040 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:31388040G>T uc002wyc.2 + 17 2162 c.1841G>T c.(1840-1842)GGA>GTA p.G614V DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.G594V|DNMT3B_uc002wye.2_Missense_Mutation_p.G594V|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G552V|DNMT3B_uc010zua.1_Missense_Mutation_p.G518V|DNMT3B_uc002wyf.2_Missense_Mutation_p.G606V|DNMT3B_uc002wyg.2_Missense_Mutation_p.G313V|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 614 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 ATTGCTGTTGGAACCGTGAAG 0.502 NA 31 44 9.93527e-08 1.24642e-07 0.002836 1 0 AHCY 191 broad.mit.edu 37 20 32878141 32878141 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:32878141C>T uc002xai.2 - 8 1108 c.969G>A c.(967-969)CCG>CCA p.P323P AHCY_uc002xaj.2_Silent_p.P295P NM_000687 NP_000678 P23526 SAHH_HUMAN adenosylhomocysteinase isoform 1 323 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding 0 TTCTCACCTGCGGCTTGATGT 0.567 NA 35 53 0 0 0.007835 0 0 C20orf152 140894 broad.mit.edu 37 20 34596256 34596256 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:34596256C>A uc002xes.1 + 9 1164 c.1008C>A c.(1006-1008)ATC>ATA p.I336I C20orf152_uc002xer.1_Silent_p.I336I|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 336 0 Breast(12;0.00631) AATTCCAGATCAAATCATATC 0.408 NA 39 96 9.73076e-26 1.70701e-25 0.006999 1 0 PABPC1L 80336 broad.mit.edu 37 20 43552898 43552898 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:43552898G>T uc010ggv.1 + 7 1054 c.972_splice c.e7+1 p.K324_splice PABPC1L_uc010zwq.1_Splice_Site|PABPC1L_uc002xmv.2_Splice_Site NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like nucleotide binding|RNA binding ovary(1) 1 CAGTGCGAAGGTGAGGACTGG 0.577 NA 23 20 9.57634e-11 1.29e-10 0.00333 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47607618 47607618 + Silent SNP C C T rs146960510 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:47607618C>T uc002xtx.3 + 21 3008 c.2856C>T c.(2854-2856)TCC>TCT p.S952S ARFGEF2_uc010zyf.1_Silent_p.S245S NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 952 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTCGCTTCTCCCTACTCACAG 0.493 Esophageal Squamous(176;1738 1974 26285 33069 35354) NA 11 37 0 0 0.010729 0 0 ATP9A 10079 broad.mit.edu 37 20 50310572 50310572 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:50310572C>A uc002xwg.1 - 7 617 c.617G>T c.(616-618)TGC>TTC p.C206F ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 206 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CCTCTGCGTGCAGGCCACGGG 0.632 NA 34 15 3.77016e-25 6.55817e-25 0.013114 1 0 BMP7 655 broad.mit.edu 37 20 55758795 55758795 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:55758795C>T uc010gip.1 - 4 1470 c.941G>A c.(940-942)CGG>CAG p.R314Q BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R314Q NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 314 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GTTGGCCATCCGCAGGGCTTC 0.642 NA 15 46 0 0 0.004007 0 0 CTCFL 140690 broad.mit.edu 37 20 56094399 56094399 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:56094399C>T uc010gix.1 - 3 1451 c.789G>A c.(787-789)ATG>ATA p.M263I CTCFL_uc010giw.1_Missense_Mutation_p.M263I|CTCFL_uc002xym.2_Missense_Mutation_p.M263I|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.M263I|CTCFL_uc010gjb.1_Missense_Mutation_p.M263I|CTCFL_uc010gjc.1_Missense_Mutation_p.M263I|CTCFL_uc010gjd.1_Missense_Mutation_p.M263I|CTCFL_uc010gje.2_Missense_Mutation_p.M263I|CTCFL_uc010gjf.2_Missense_Mutation_p.M58I|CTCFL_uc010gjg.2_5'UTR|CTCFL_uc010gjh.1_Missense_Mutation_p.M263I|CTCFL_uc010gji.1_Missense_Mutation_p.M58I|CTCFL_uc010gjj.1_Missense_Mutation_p.M263I|CTCFL_uc010gjk.1_Missense_Mutation_p.M263I|CTCFL_uc010gjl.1_Missense_Mutation_p.M263I NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 263 C2H2-type 1. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AAGAGGTGAACATGCAGACAT 0.398 NA 16 80 0 0 0.007413 0 0 PCK1 5105 broad.mit.edu 37 20 56139537 56139537 + Splice_Site SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:56139537G>T uc002xyn.3 + 8 1350 c.1187_splice c.e8-1 p.G396_splice PCK1_uc010zzm.1_Splice_Site_p.G79_splice NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGTCTTATAGGGGAACCTTG 0.602 NA 16 50 4.96729e-08 6.30815e-08 0.008871 1 0 YTHDF1 54915 broad.mit.edu 37 20 61834033 61834033 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:61834033C>A uc002yeh.2 - 4 1553 c.1259G>T c.(1258-1260)CGC>CTC p.R420L YTHDF1_uc011aaq.1_Missense_Mutation_p.R370L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 420 YTH. ovary(2) 2 GCTGTCCAGGCGCTTGTTGCC 0.567 NA 33 40 9.17885e-22 1.56595e-21 0.003271 1 0 MYT1 4661 broad.mit.edu 37 20 62850370 62850370 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:62850370A>T uc002yii.2 + 12 2317 c.1953A>T c.(1951-1953)CCA>CCT p.P651P MYT1_uc002yih.2_Silent_p.P353P|MYT1_uc002yij.2_Silent_p.P310P NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 651 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCACGAAGCCACAGGACCTCC 0.587 GBM(59;481 1041 20555 21139 33705) NA 10 18 0 0 0.008291 0 0 MYT1 4661 broad.mit.edu 37 20 62853402 62853402 + Splice_Site SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr20:62853402T>G uc002yii.2 + 14 2760 c.2396_splice c.e14+2 p.T799_splice MYT1_uc002yih.2_Splice_Site_p.T501_splice|MYT1_uc002yij.2_Splice_Site_p.T458_splice NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCTGCTCACGTAAGTCCCTGT 0.562 GBM(59;481 1041 20555 21139 33705) NA 6 46 0 0 0.00308 0 0 TPTE 7179 broad.mit.edu 37 21 10920104 10920104 + Nonsense_Mutation SNP C C A rs142165446 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr21:10920104C>A uc002yip.1 - 19 1518 c.1150G>T c.(1150-1152)GGA>TGA p.G384* TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.G366*|TPTE_uc002yir.1_Nonsense_Mutation_p.G346*|TPTE_uc010gkv.1_Nonsense_Mutation_p.G246* NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 384 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTTTTACTCCCTGAAATTTT 0.378 NA 12 50 0.00010058 0.000111936 0.001368 1 0 KRTAP12-1 353332 broad.mit.edu 37 21 46102028 46102028 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr21:46102028G>A uc002zfv.2 - 1 51 c.11C>T c.(10-12)ACC>ATC p.T4I C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181686 NP_859014 P59990 KR121_HUMAN keratin associated protein 12-1 4 keratin filament skin(2) 2 GGAGCAGCTGGTGTGGCACAT 0.662 NA 13 8 0 0 0.004007 0 0 PIWIL3 440822 broad.mit.edu 37 22 25123945 25123945 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:25123945C>T uc003abd.1 - 16 2425 c.2008G>A c.(2008-2010)GTT>ATT p.V670I PIWIL3_uc011ajx.1_Missense_Mutation_p.V552I|PIWIL3_uc011ajy.1_Missense_Mutation_p.V552I|PIWIL3_uc010gut.1_Missense_Mutation_p.V661I NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 670 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 GTACTTGCAACAAATCCTGCT 0.343 NA 21 27 0 0 0.012319 0 0 CHEK2 11200 broad.mit.edu 37 22 29121263 29121263 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:29121263T>C uc003adu.1 - 3 484 c.412A>G c.(412-414)ACA>GCA p.T138A CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.T138A|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.T181A|CHEK2_uc003adv.1_Missense_Mutation_p.T138A|CHEK2_uc003adw.1_Missense_Mutation_p.T138A|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.T138A|CHEK2_uc003adz.1_5'UTR NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 138 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TTGCTGTATGTTCGGTATTTA 0.373 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 33 83 0 0 0.003271 0 0 LGALS2 3957 broad.mit.edu 37 22 37966684 37966684 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:37966684A>T uc003ata.2 - 3 260 c.148T>A c.(148-150)TTC>ATC p.F50I NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 50 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) GATTCGCTGAAGCGAGGGTTG 0.552 GBM(193;1840 2185 13711 20676 24505) NA 45 51 0 0 0.00361 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055719 40055719 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:40055719C>A uc003ayc.2 + 14 2466 c.2466C>A c.(2464-2466)GAC>GAA p.D822E CACNA1I_uc003ayd.2_Missense_Mutation_p.D787E|CACNA1I_uc003aye.2_Missense_Mutation_p.D737E|CACNA1I_uc003ayf.2_Missense_Mutation_p.D702E NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 822 Extracellular (Potential).|II. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCAGGAGGACTGGAACGTCG 0.582 NA 50 38 9.59835e-30 1.73778e-29 0.00361 1 0 EFCAB6 64800 broad.mit.edu 37 22 44107437 44107437 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:44107437C>A uc003bdy.1 - 10 1164 c.949G>T c.(949-951)GTG>TTG p.V317L EFCAB6_uc003bdz.1_Missense_Mutation_p.V165L|EFCAB6_uc010gzi.1_Missense_Mutation_p.V165L|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_Missense_Mutation_p.V211L|EFCAB6_uc003bea.1_Missense_Mutation_p.V314L NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 317 EF-hand 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TTAAAAGACACGTAGCCACCT 0.373 NA 20 12 2.39187e-15 3.6284e-15 0.008871 1 0 BRD1 23774 broad.mit.edu 37 22 50192297 50192297 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:50192297G>A uc003biv.2 - 4 2181 c.1694C>T c.(1693-1695)ACC>ATC p.T565I BRD1_uc011arf.1_Missense_Mutation_p.T160I|BRD1_uc011arg.1_Missense_Mutation_p.T619I|BRD1_uc011arh.1_Missense_Mutation_p.T565I|BRD1_uc003biu.3_Missense_Mutation_p.T565I NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 565 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGTCAGCGGGGTCAGCCGCAG 0.657 NA 5 11 0 0 0.000602 0 0 OGG1 4968 broad.mit.edu 37 3 9807579 9807579 + Silent SNP C C T rs150915328 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:9807579C>T uc003bsm.2 + 7 1378 c.1035C>T c.(1033-1035)ATC>ATT p.I345I OGG1_uc003bsk.2_3'UTR|OGG1_uc003bsl.2_3'UTR|OGG1_uc003bsn.2_Silent_p.I278I|OGG1_uc003bso.2_3'UTR|CAMK1_uc003bst.2_Intron|CAMK1_uc003bsu.2_Intron NM_016821 NP_058214 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 2a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) GCCCCCCTATCGGGAGAGGGG 0.582 NA BER_DNA_glycosylases 17 26 0 0 0.004007 0 0 ARPP21 10777 broad.mit.edu 37 3 35763114 35763114 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:35763114C>T uc003cgb.2 + 14 1277 c.1013C>T c.(1012-1014)TCA>TTA p.S338L ARPP21_uc003cga.2_Missense_Mutation_p.S284L|ARPP21_uc011axy.1_Missense_Mutation_p.S304L|ARPP21_uc003cgf.2_Missense_Mutation_p.S139L|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 338 Ser-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGAGATGGCTCAGGGAGAACA 0.532 NA 5 17 0 0 0.000602 0 0 SCN10A 6336 broad.mit.edu 37 3 38739735 38739735 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:38739735G>T uc003ciq.2 - 27 4976 c.4976C>A c.(4975-4977)ACG>AAG p.T1659K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1659 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCGGCCGACGTGGTAATCTG 0.597 NA 35 44 3.2961e-07 4.00563e-07 0.004878 1 0 ULK4 54986 broad.mit.edu 37 3 41504603 41504603 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:41504603G>C uc003ckv.3 - 33 3569 c.3368C>G c.(3367-3369)TCC>TGC p.S1123C NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 1123 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) TACAATACCGGAGGTATAGGT 0.453 NA 30 62 0 0 0.009535 0 0 CCR2 729230 broad.mit.edu 37 3 46399269 46399269 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:46399269T>A uc003cpn.3 + 2 736 c.251T>A c.(250-252)CTG>CAG p.L84Q CCR2_uc003cpm.3_Missense_Mutation_p.L84Q NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 84 Helical; Name=2; (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CTGCTCAACCTGGCCATCTCT 0.438 NA 81 126 0 0 0.00361 0 0 SETD2 29072 broad.mit.edu 37 3 47163563 47163563 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47163563T>A uc003cqs.2 - 3 2616 c.2563A>T c.(2563-2565)AGC>TGC p.S855C SETD2_uc003cqv.2_Missense_Mutation_p.S844C NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 855 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTACCGATGCTCTGCTTATAT 0.348 NA N|F|S|Mis clear cell renal carcinoma 29 45 0 0 0.005443 0 0 SCAP 22937 broad.mit.edu 37 3 47460980 47460980 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47460980G>T uc003crh.1 - 13 2033 c.1778C>A c.(1777-1779)TCG>TAG p.S593* SCAP_uc011baz.1_Nonsense_Mutation_p.S338*|SCAP_uc003crg.2_Nonsense_Mutation_p.S201* NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 593 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CTCGCCTGGCGACGTCTGGTT 0.632 Pancreas(149;978 1908 29304 37806 46700) NA 33 53 1.08312e-15 1.65669e-15 0.009535 1 0 SMARCC1 6599 broad.mit.edu 37 3 47703910 47703910 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:47703910G>A uc003crq.2 - 20 2190 c.2072C>T c.(2071-2073)TCA>TTA p.S691L SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.S582L NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 691 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TGGATTTCCTGACTGACTGAA 0.512 NA 23 30 0 0 0.002299 0 0 CAMKV 79012 broad.mit.edu 37 3 49896879 49896879 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:49896879G>T uc003cxt.1 - 11 1571 c.1378C>A c.(1378-1380)CCT>ACT p.P460T TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P385T|CAMKV_uc003cxv.1_Missense_Mutation_p.P432T|CAMKV_uc003cxw.1_Missense_Mutation_p.P292T|CAMKV_uc003cxx.1_Missense_Mutation_p.P292T|CAMKV_uc003cxu.2_Missense_Mutation_p.P429T|CAMKV_uc011bcz.1_Missense_Mutation_p.P392T|CAMKV_uc011bda.1_Missense_Mutation_p.P386T NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 460 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCGGCTCAGGGGTGGCAGCT 0.642 NA 40 64 5.1965e-05 5.84607e-05 0.007835 1 0 MAPKAPK3 7867 broad.mit.edu 37 3 50679165 50679165 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:50679165G>T uc003day.1 + 6 983 c.387G>T c.(385-387)AGG>AGT p.R129S MAPKAPK3_uc003daz.1_Missense_Mutation_p.R129S|MAPKAPK3_uc003dba.1_Missense_Mutation_p.R129S|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.R129S NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 129 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) TGTTCAGCAGGATTCAGGAGC 0.532 NA 16 24 4.14922e-12 5.75148e-12 0.004007 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54596898 54596898 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:54596898G>T uc003dhf.2 + 6 664 c.616G>T c.(616-618)GAC>TAC p.D206Y CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D112Y|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 206 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTTTGACCGTGACCCATCTCT 0.408 NA 9 17 1.12685e-05 1.2911e-05 0.004482 1 0 ARHGEF3 50650 broad.mit.edu 37 3 56779265 56779265 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:56779265C>T uc003dig.2 - 7 1007 c.838G>A c.(838-840)GAT>AAT p.D280N ARHGEF3_uc011bew.1_Missense_Mutation_p.D280N|ARHGEF3_uc003dih.2_Missense_Mutation_p.D312N|ARHGEF3_uc011bev.1_Missense_Mutation_p.D251N|ARHGEF3_uc003dif.2_Missense_Mutation_p.D286N|ARHGEF3_uc010hmy.1_Missense_Mutation_p.D78N|ARHGEF3_uc003dii.2_Missense_Mutation_p.D280N NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 280 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TCTGGATTATCATTTGGTGTG 0.443 NA 41 51 0 0 0.009718 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433556 73433556 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:73433556G>T uc003dpl.1 - 10 2257 c.2161C>A c.(2161-2163)CTG>ATG p.L721M PDZRN3_uc011bgh.1_Missense_Mutation_p.L378M|PDZRN3_uc010hoe.1_Missense_Mutation_p.L419M|PDZRN3_uc011bgf.1_Missense_Mutation_p.L438M|PDZRN3_uc011bgg.1_Missense_Mutation_p.L441M NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 721 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTGTTGTGCAGCATCCAGGAC 0.597 NA 14 24 0.000219431 0.000242468 0.00245 1 0 ROBO1 6091 broad.mit.edu 37 3 78766425 78766425 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:78766425C>A uc003dqe.2 - 7 1125 c.917G>T c.(916-918)AGA>ATA p.R306I ROBO1_uc003dqb.2_Missense_Mutation_p.R267I|ROBO1_uc003dqc.2_Missense_Mutation_p.R267I|ROBO1_uc003dqd.2_Missense_Mutation_p.R267I|ROBO1_uc003dqf.1_5'Flank NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 306 Extracellular (Potential).|Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGATGTGTACCTGGATTTGGG 0.448 NA 56 104 2.3441e-25 4.10052e-25 0.00361 1 0 ZBTB11 27107 broad.mit.edu 37 3 101370100 101370100 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:101370100T>A uc003dve.3 - 11 3302 c.3072A>T c.(3070-3072)TTA>TTT p.L1024F NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 1024 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GCTGTTGTGCTAATACATAAT 0.383 NA 33 79 0 0 0.002836 0 0 MYLK 4638 broad.mit.edu 37 3 123456294 123456294 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:123456294C>A uc003ego.2 - 8 967 c.685G>T c.(685-687)GGA>TGA p.G229* MYLK_uc011bjw.1_Nonsense_Mutation_p.G229*|MYLK_uc003egp.2_Nonsense_Mutation_p.G229*|MYLK_uc003egq.2_Nonsense_Mutation_p.G229*|MYLK_uc003egr.2_Nonsense_Mutation_p.G229*|MYLK_uc003egs.2_Nonsense_Mutation_p.G53*|MYLK_uc010hrs.1_Nonsense_Mutation_p.G229* NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 229 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTGTACACTCCCACGTCATCT 0.557 NA 26 72 4.26978e-12 5.89229e-12 0.00333 1 0 SOX14 8403 broad.mit.edu 37 3 137484280 137484280 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:137484280C>A uc003erm.1 + 1 702 c.654C>A c.(652-654)TAC>TAA p.Y218* NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 218 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CCGTCGCCTACATCCTCTTCC 0.652 NA 15 18 7.93312e-07 9.54742e-07 0.00245 1 0 DZIP1L 199221 broad.mit.edu 37 3 137822452 137822452 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:137822452T>A uc003erq.2 - 2 725 c.362A>T c.(361-363)CAG>CTG p.Q121L DZIP1L_uc003err.1_Missense_Mutation_p.Q121L NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 121 intracellular zinc ion binding ovary(1)|pancreas(1) 2 ACGCTGCTGCTGGCCCAGGCT 0.662 NA 5 7 0 0 0.00308 0 0 ZIC4 84107 broad.mit.edu 37 3 147108946 147108946 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:147108946G>T uc003ewd.1 - 4 1049 c.776C>A c.(775-777)ACT>AAT p.T259N ZIC4_uc003ewc.1_Missense_Mutation_p.T189N|ZIC4_uc011bno.1_Missense_Mutation_p.T309N NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 259 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CTTGTCGCTAGTGTGCACGTG 0.637 NA 12 22 3.07112e-06 3.61891e-06 0.010729 1 0 ZIC4 84107 broad.mit.edu 37 3 147114004 147114004 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:147114004G>C uc003ewd.1 - 3 596 c.323C>G c.(322-324)GCT>GGT p.A108G ZIC4_uc003ewc.1_Missense_Mutation_p.A38G|ZIC4_uc011bno.1_Missense_Mutation_p.A158G NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 108 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GTGGGGCGCAGCGAGGTTCAC 0.711 NA 9 12 0 0 0.004482 0 0 SHOX2 6474 broad.mit.edu 37 3 157820574 157820574 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:157820574C>A uc003fbr.2 - 2 587 c.448G>T c.(448-450)GAA>TAA p.E150* SHOX2_uc003fbs.2_Nonsense_Mutation_p.E174*|SHOX2_uc010hvw.2_Nonsense_Mutation_p.E150* NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 150 Homeobox. nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTGAGTTGTTCCAGGGTGAAA 0.572 NA 32 34 8.16721e-17 1.27114e-16 0.010818 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907292 164907292 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:164907292G>T uc003fej.3 - 2 1771 c.1327C>A c.(1327-1329)CGT>AGT p.R443S SLITRK3_uc003fek.2_Missense_Mutation_p.R443S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 443 LRR 8.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TAGGAAATACGATTGTTCCCC 0.408 NA HNSCC(40;0.11) 21 31 2.37509e-13 3.38287e-13 0.010504 1 0 DVL3 1857 broad.mit.edu 37 3 183888495 183888495 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:183888495C>T uc003fms.2 + 15 2243 c.2103C>T c.(2101-2103)TTC>TTT p.F701F DVL3_uc011bqw.1_Silent_p.F684F|DVL3_uc003fmt.2_Silent_p.F372F|DVL3_uc003fmu.2_Silent_p.F533F NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 701 PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199). canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GACAGTCCTTCCGCATGGCCA 0.701 NA 11 6 0 0 0.001368 0 0 AHSG 197 broad.mit.edu 37 3 186333533 186333533 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:186333533G>T uc003fqk.3 + 2 354 c.273G>T c.(271-273)GTG>GTT p.V91V AHSG_uc003fqj.2_Silent_p.V91V|AHSG_uc003fql.3_Silent_p.V91V|AHSG_uc003fqm.3_Silent_p.V90V|AHSG_uc010hyp.2_Intron NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 91 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCTGCCATGTGCTGGACCCCA 0.567 NA 20 19 1.50039e-11 2.0523e-11 0.012319 1 0 HRG 3273 broad.mit.edu 37 3 186395105 186395105 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:186395105C>A uc003fqq.2 + 7 1034 c.1011C>A c.(1009-1011)GCC>GCA p.A337A NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 337 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) CAAATGGGGCCCAAAGACATT 0.328 NA 14 16 1.3612e-06 1.62872e-06 0.003163 1 0 C3orf21 152002 broad.mit.edu 37 3 194991426 194991426 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:194991426G>T uc003fum.3 - 1 470 c.362C>A c.(361-363)GCG>GAG p.A121E NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 121 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) TGAGCGCAGCGCGACGCGGGC 0.682 NA 7 17 3.09899e-07 3.77347e-07 0.004482 1 0 MFSD7 84179 broad.mit.edu 37 4 680325 680325 + Missense_Mutation SNP G G A rs139449222 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:680325G>A uc003gay.2 - 2 347 c.290C>T c.(289-291)GCG>GTG p.A97V MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A97V|MFSD7_uc003gaz.2_Missense_Mutation_p.A75V|MFSD7_uc003gba.2_Missense_Mutation_p.A97V|MFSD7_uc003gbb.1_Missense_Mutation_p.A33V NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 97 transmembrane transport integral to membrane 0 ACTCACCGCCGCACGGAGCCC 0.662 NA 20 31 0 0 0.010504 0 0 WHSC2 7469 broad.mit.edu 37 4 1989724 1989724 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:1989724G>A uc003gem.2 - 4 828 c.588C>T c.(586-588)ACC>ACT p.T196T WHSC2_uc003gek.2_5'Flank|WHSC2_uc003gel.2_Silent_p.T110T|WHSC2_uc003gen.2_Silent_p.T50T|MIR943_hsa-mir-943|MI0005768_5'Flank NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 185 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) ACTGCTGGGCGGTCTCCGTGG 0.617 NA 3 10 0 0 0.004672 0 0 BOD1L 259282 broad.mit.edu 37 4 13601770 13601770 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:13601770C>A uc003gmz.1 - 10 6871 c.6754G>T c.(6754-6756)GGG>TGG p.G2252W BOD1L_uc010idr.1_Missense_Mutation_p.G1589W NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2252 DNA binding ovary(5)|breast(1) 6 ATGCCACTCCCGTCTTTTTCT 0.527 NA 9 11 0.00448238 0.00470991 0.004482 1 0 TBC1D19 55296 broad.mit.edu 37 4 26661218 26661219 + Splice_Site DNP GG GG TT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:26661218_26661219GG>TT uc003gsf.3 + 8 751 c.481_splice c.e8-1 p.V161_splice TBC1D19_uc010iew.2_Splice_Site_p.V161_splice|TBC1D19_uc011bxu.1_Splice_Site_p.V96_splice NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) TGTTTTTAAAGGTATTAATTAA 0.302 NA 4 32 0 0 0.004672 0 0 PTTG2 10744 broad.mit.edu 37 4 37962455 37962455 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:37962455C>G uc011bye.1 + 1 400 c.400C>G c.(400-402)CGC>GGC p.R134G TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 134 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding 0 GCCTGAAGAGCGCCAGATTGC 0.483 NA 19 55 0 0 0.007413 0 0 GABRB1 2560 broad.mit.edu 37 4 47405585 47405585 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:47405585C>A uc003gxh.2 + 7 1066 c.692C>A c.(691-693)CCA>CAA p.P231Q GABRB1_uc011bze.1_Missense_Mutation_p.P161Q NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 231 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGAGCGTATCCACGACTGTCA 0.413 NA 35 28 1.30998e-17 2.07525e-17 0.005524 1 0 KDR 3791 broad.mit.edu 37 4 55976632 55976632 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:55976632A>G uc003has.2 - 9 1495 c.1193T>C c.(1192-1194)GTC>GCC p.V398A KDR_uc003hat.1_Missense_Mutation_p.V398A|KDR_uc011bzx.1_Missense_Mutation_p.V398A NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 398 Ig-like C2-type 4.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGTAAGGATGACAGTGTAATT 0.418 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 33 30 0 0 0.00623 0 0 TECRL 253017 broad.mit.edu 37 4 65147209 65147209 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:65147209G>C uc003hcv.2 - 10 1010 c.901C>G c.(901-903)CCT>GCT p.P301A TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 301 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GTGTAGTTAGGACATGAAACC 0.318 NA 9 32 0 0 0.008291 0 0 Unknown 0 broad.mit.edu 37 4 69340476 69340476 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:69340476C>A uc003hdz.3 + 6 590 c.526C>A c.(526-528)CAT>AAT p.H176N NM_014058 NP_054777 transmembrane protease, serine 11E NA CTATCTAAACCATTGTAAGtt 0.338 NA 31 106 6.00712e-18 9.68941e-18 0.012213 1 0 UGT2B10 7365 broad.mit.edu 37 4 69682288 69682288 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:69682288G>C uc003hee.2 + 1 576 c.551G>C c.(550-552)GGA>GCA p.G184A UGT2B10_uc011cam.1_Intron NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 184 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 AGGCACAGTGGAGGATTTATT 0.413 Melanoma(133;755 1763 25578 26334 46021) NA 50 49 0 0 0.00361 0 0 CSN2 1447 broad.mit.edu 37 4 70823408 70823408 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:70823408G>A uc003hes.3 - 5 272 c.259C>T c.(259-261)CCT>TCT p.P87S CSN2_uc003het.3_Missense_Mutation_p.P86S NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 87 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 ACCACAGCAGGCTGAGCAAGA 0.473 NA 13 48 0 0 0.00245 0 0 GRSF1 2926 broad.mit.edu 37 4 71701992 71701992 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:71701992G>A uc010iia.1 - 2 480 c.397C>T c.(397-399)CCT>TCT p.P133S GRSF1_uc011caz.1_Missense_Mutation_p.P15S|GRSF1_uc003hfs.2_5'UTR NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 133 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) TCATACTCAGGGGGTGGTGGA 0.423 NA 7 41 0 0 0.00308 0 0 ADH1C 126 broad.mit.edu 37 4 100268269 100268269 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:100268269C>A uc003huu.2 - 3 238 c.153G>T c.(151-153)GAG>GAT p.E51D NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 51 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TAACCACATGCTCATCTGAAC 0.468 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 30 91 6.07407e-21 1.025e-20 0.007291 1 0 C4orf21 55345 broad.mit.edu 37 4 113541332 113541332 + Missense_Mutation SNP A A T rs143057821 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:113541332A>T uc003iau.2 - 5 388 c.177T>A c.(175-177)GAT>GAA p.D59E C4orf21_uc003iaw.2_Missense_Mutation_p.D59E NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTCTAAGTCATCTCCAGGTT 0.269 NA 16 51 0 0 0.006122 0 0 SYNPO2 171024 broad.mit.edu 37 4 119979067 119979067 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:119979067G>T uc010inb.2 + 5 3960 c.3764G>T c.(3763-3765)AGG>ATG p.R1255M SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.R1125M NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform a Error:Variant_position_missing_in_Q9UMS6_after_alignment nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CCACACCCAAGGGGATGGAGA 0.403 NA 14 28 3.35478e-16 5.16952e-16 0.003163 1 0 SC4MOL 6307 broad.mit.edu 37 4 166254679 166254679 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:166254679G>C uc003ire.2 + 2 287 c.157G>C c.(157-159)GGA>CGA p.G53R SC4MOL_uc010irb.2_Missense_Mutation_p.G53R|SC4MOL_uc003irf.2_Intron NM_006745 NP_006736 Q15800 ERG25_HUMAN sterol-C4-methyl oxidase-like isoform 1 53 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding 0 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0875) NADH(DB00157) TGCAACATGGGGATCCCTTAT 0.299 NA 14 39 0 0 0.00245 0 0 KLKB1 3818 broad.mit.edu 37 4 187179225 187179225 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:187179225G>T uc003iyy.2 + 15 1847 c.1776G>T c.(1774-1776)TTG>TTT p.L592F KLKB1_uc011clc.1_Missense_Mutation_p.L390F|KLKB1_uc011cld.1_Missense_Mutation_p.G508C NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 592 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGTGGCGTTTGGTGGGCATCA 0.478 NA 26 25 3.65163e-15 5.50403e-15 0.00632 1 0 FAT1 2195 broad.mit.edu 37 4 187509957 187509957 + Missense_Mutation SNP T T G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr4:187509957T>G uc003izf.2 - 27 13744 c.13556A>C c.(13555-13557)TAC>TCC p.Y4519S FAT1_uc010isn.2_Missense_Mutation_p.Y166S|FAT1_uc003ize.2_Missense_Mutation_p.Y410S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4519 Cytoplasmic (Potential). 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 CCCTGGCGGGTAAGGGGCATG 0.527 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 9 30 0 0 0.004482 0 0 CCDC127 133957 broad.mit.edu 37 5 205950 205950 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:205950C>A uc003jam.1 - 3 345 c.245G>T c.(244-246)CGG>CTG p.R82L NM_145265 NP_660308 Q96BQ5 CC127_HUMAN coiled-coil domain containing 127 82 Potential. 0 all cancers(22;0.0236)|Lung(60;0.113) GACAGCACGCCGATTTTCTGA 0.478 NA 31 26 5.91797e-21 1.00138e-20 0.012213 1 0 SLC6A19 340024 broad.mit.edu 37 5 1208962 1208962 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:1208962G>T uc003jbw.3 + 2 360 c.304G>T c.(304-306)GGT>TGT p.G102C NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 102 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGCAGCCTGGGTGTGTGGAG 0.682 NA 9 24 0.00621372 0.00649616 0.006214 1 0 ANKH 56172 broad.mit.edu 37 5 14712990 14712990 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:14712990C>T uc003jfm.3 - 11 1689 c.1358G>A c.(1357-1359)CGG>CAG p.R453Q ANKH_uc003jfl.3_Missense_Mutation_p.R166Q NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 453 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 CACCTGCTTCCGGTAGACATA 0.657 NA 3 6 0 0 0.009096 0 0 MARCH11 441061 broad.mit.edu 37 5 16177991 16177991 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:16177991C>T uc003jfo.2 - 2 751 c.538_splice c.e2-1 p.G180_splice uc003jfp.2_5'Flank NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 ACAACTCACCCTAAAAAGAAA 0.428 NA 5 15 0 0 0.000602 0 0 PRDM9 56979 broad.mit.edu 37 5 23509160 23509160 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:23509160C>T uc003jgo.2 + 2 200 c.18C>T c.(16-18)TCC>TCT p.S6S NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 6 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CTGAAAAGTCCCAAGAGGAGA 0.562 NA HNSCC(3;0.000094) 8 18 0 0 0.004482 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33535096 33535096 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:33535096C>A uc003jia.1 - 23 4611 c.4448G>T c.(4447-4449)TGT>TTT p.C1483F ADAMTS12_uc010iuq.1_Missense_Mutation_p.C1398F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1483 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGAAGTGGAACACTGAAAGAG 0.488 NA HNSCC(64;0.19) 8 29 2.17888e-05 2.47364e-05 0.006214 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33535098 33535098 + Splice_Site SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:33535098C>A uc003jia.1 - 23 4610 c.4447_splice c.e23-1 p.C1483_splice ADAMTS12_uc010iuq.1_Splice_Site_p.C1398_splice NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGTGGAACACTGAAAGAGAA 0.488 NA HNSCC(64;0.19) 8 28 2.17888e-05 2.47364e-05 0.006214 1 0 RAI14 26064 broad.mit.edu 37 5 34803879 34803879 + Nonsense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:34803879C>T uc003jir.2 + 5 515 c.319C>T c.(319-321)CAG>TAG p.Q107* RAI14_uc010iur.2_Nonsense_Mutation_p.Q107*|RAI14_uc011coj.1_Nonsense_Mutation_p.Q107*|RAI14_uc010ius.1_Nonsense_Mutation_p.Q36*|RAI14_uc003jis.2_Nonsense_Mutation_p.Q110*|RAI14_uc003jit.2_Nonsense_Mutation_p.Q107*|RAI14_uc011cok.1_Nonsense_Mutation_p.Q99* NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 107 ANK 3. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) GAAGCTGCTTCAGGTAAGCTG 0.358 NA 8 9 0 0 0.00308 0 0 RICTOR 253260 broad.mit.edu 37 5 38963016 38963016 + Nonsense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:38963016G>A uc003jlp.2 - 17 1552 c.1528C>T c.(1528-1530)CAG>TAG p.Q510* RICTOR_uc003jlo.2_Nonsense_Mutation_p.Q510*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.Q225* NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 510 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) CGGAGATACTGATCCCGTTTC 0.363 NA 33 74 0 0 0.00623 0 0 CARD6 84674 broad.mit.edu 37 5 40853331 40853331 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:40853331A>G uc003jmg.2 + 3 1972 c.1897A>G c.(1897-1899)ATG>GTG p.M633V NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 633 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CCAGGAAGTGATGTTCTCTTC 0.527 NA 66 75 0 0 0.00361 0 0 HTR1A 3350 broad.mit.edu 37 5 63256879 63256879 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:63256879C>T uc011cqt.1 - 1 668 c.668G>A c.(667-669)CGC>CAC p.R223H NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 223 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GATGCGGAAGCGCGCAGCTCG 0.567 NA 41 68 0 0 0.00874 0 0 CENPH 64946 broad.mit.edu 37 5 68491617 68491617 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:68491617A>T uc003jvp.2 + 4 400 c.313A>T c.(313-315)AGG>TGG p.R105W CENPH_uc010ixc.2_Missense_Mutation_p.S105C NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN centromere protein H 105 Potential. cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding large_intestine(1) 1 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) TGCATTAGACAGGTAATTATT 0.328 NA 14 26 0 0 0.00245 0 0 CMYA5 202333 broad.mit.edu 37 5 79032837 79032837 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:79032837C>T uc003kgc.2 + 2 8321 c.8249C>T c.(8248-8250)TCA>TTA p.S2750L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2750 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTAGAAAAGTCAAGCAGAGAT 0.383 NA 4 34 0 0 0.009096 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937482 82937482 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:82937482C>A uc003kim.2 - 4 969 c.898G>T c.(898-900)GGA>TGA p.G300* HAPLN1_uc003kin.2_Nonsense_Mutation_p.G300* NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 300 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CGGTCATATCCGAGAATTTTC 0.557 NA 69 106 2.17656e-39 4.09588e-39 0.00361 1 0 FER 2241 broad.mit.edu 37 5 108203468 108203468 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:108203468G>T uc003kop.1 + 6 866 c.482G>T c.(481-483)GGG>GTG p.G161V FER_uc011cve.1_Missense_Mutation_p.G101V|FER_uc011cvf.1_RNA|FER_uc011cvg.1_5'UTR NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 161 Potential.|Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TTTTTTTCAGGGAAGGAAACT 0.338 Colon(146;1051 1799 9836 27344 47401) NA 11 16 0.000978159 0.00105825 0.010729 1 0 AQPEP 206338 broad.mit.edu 37 5 115361800 115361800 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:115361800A>G uc003kro.2 + 20 3122 c.2958A>G c.(2956-2958)CTA>CTG p.L986L AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 986 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CTGCGTGGCTAAGGAGAAACA 0.403 NA 21 21 0 0 0.002299 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175792 140175792 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140175792C>A uc003lhd.2 + 1 1349 c.1243C>A c.(1243-1245)CGC>AGC p.R415S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R415S|PCDHA2_uc011czy.1_Missense_Mutation_p.R415S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 415 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGGACCGCGAGAGCGT 0.627 NA 71 89 3.58576e-35 6.62726e-35 0.00361 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263227 140263227 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140263227C>A uc003lif.2 + 1 1374 c.1374C>A c.(1372-1374)CCC>CCA p.P458P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P458P|PCDHA13_uc003lid.2_Silent_p.P458P NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 458 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P458S(1) ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGCAGCCCGAGTACACGG 0.682 Melanoma(147;1739 1852 5500 27947 37288) NA 38 44 9.84934e-19 1.60536e-18 0.010771 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475761 140475761 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140475761C>A uc003lil.2 + 1 1525 c.1387C>A c.(1387-1389)CGC>AGC p.R463S PCDHB2_uc003lim.1_Missense_Mutation_p.R124S NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 463 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGTTCGTCCGCGAGAACAA 0.632 NA 43 79 9.40535e-28 1.67356e-27 0.00361 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554470 140554470 + Missense_Mutation SNP C C A rs17844475 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140554470C>A uc003lit.2 + 1 2228 c.2054C>A c.(2053-2055)ACC>AAC p.T685N PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 685 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTCGCTCACCGTCTACCTG 0.711 NA 46 120 8.00217e-19 1.30772e-18 0.00361 1 0 PCDHB10 56126 broad.mit.edu 37 5 140572519 140572519 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140572519G>C uc003lix.2 + 1 568 c.394G>C c.(394-396)GTA>CTA p.V132L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 132 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACGCGCCAGTATTTCAGGA 0.403 NA 39 63 0 0 0.005524 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627409 140627409 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140627409C>A uc003lje.2 + 1 2263 c.2263C>A c.(2263-2265)CTG>ATG p.L755M NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 755 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGGTGTGTCTGACGGGAGG 0.522 NA 83 119 1.68136e-41 3.18331e-41 0.00361 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750841 140750841 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140750841C>A uc003ljw.1 + 1 880 c.880C>A c.(880-882)CTG>ATG p.L294M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.L294M|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 294 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGTTCAAGCTGGACAGTAA 0.448 NA 52 73 9.59835e-30 1.73778e-29 0.00361 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140752016 140752016 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140752016G>A uc003ljw.1 + 1 2055 c.2055G>A c.(2053-2055)CAG>CAA p.Q685Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.Q685Q|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 685 Extracellular (Potential). 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) CTGACCCTCAGGCGGAGCTAC 0.567 NA 29 37 0 0 0.008361 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763012 140763012 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140763012G>A uc003lka.1 + 1 546 c.546G>A c.(544-546)GTG>GTA p.V182V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.V182V NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 182 Extracellular (Potential).|Cadherin 2. 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) CCCTGGCTGTGCAAAGTGGAG 0.602 NA 7 19 0 0 0.001984 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779392 140779392 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:140779392C>G uc003lkf.1 + 1 1698 c.1698C>G c.(1696-1698)GAC>GAG p.D566E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D566E NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 566 Cadherin 6.|Extracellular (Potential). 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) TGGGTCCCGACGGCTCTGCGC 0.682 NA 14 19 0 0 0.00245 0 0 PCDH1 5097 broad.mit.edu 37 5 141248253 141248253 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:141248253T>A uc003llq.2 - 2 901 c.784A>T c.(784-786)AGC>TGC p.S262C PCDH1_uc003llp.2_Missense_Mutation_p.S262C|PCDH1_uc011dbf.1_Missense_Mutation_p.S240C NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 262 Extracellular (Potential).|Cadherin 2. S -> T (in Ref. 4; AAA36419). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AGGGCACTGCTGGCGCGTGGG 0.607 Ovarian(132;1609 1739 4190 14731 45037) NA 8 15 0 0 0.004482 0 0 RBM27 54439 broad.mit.edu 37 5 145643117 145643117 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:145643117C>T uc003lnz.3 + 14 2420 c.2254C>T c.(2254-2256)CTT>TTT p.L752F RBM27_uc003lny.2_Missense_Mutation_p.L697F NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 752 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAACATCGTCTTGGACATGC 0.388 NA 49 79 0 0 0.00361 0 0 SLC36A3 285641 broad.mit.edu 37 5 150657056 150657056 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:150657056G>A uc003ltw.2 - 10 1730 c.1311C>T c.(1309-1311)ATC>ATT p.I437I GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.I422I|SLC36A3_uc003ltx.2_Silent_p.I478I NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 437 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGGCCCACGATGCTAATCA 0.522 NA 35 49 0 0 0.003271 0 0 LARP1 23367 broad.mit.edu 37 5 154182849 154182849 + Splice_Site SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:154182849G>A uc003lvp.2 + 12 2539 c.2110_splice c.e12-1 p.Q704_splice LARP1_uc003lvo.2_Splice_Site_p.Q627_splice|LARP1_uc010jie.1_Splice_Site_p.Q499_splice NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GACCTCTGCAGCAAGAAGTCG 0.517 NA 3 58 0 0 0.004672 0 0 FAM71B 153745 broad.mit.edu 37 5 156590160 156590160 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:156590160C>A uc003lwn.2 - 2 1216 c.1116G>T c.(1114-1116)TTG>TTT p.L372F NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 372 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACGCCGCACTCAAGCTGCTGT 0.577 NA 11 17 1.08611e-07 1.35165e-07 0.010729 1 0 ADAM19 8728 broad.mit.edu 37 5 156915298 156915298 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:156915298G>T uc003lwz.2 - 21 2589 c.2525C>A c.(2524-2526)CCC>CAC p.P842H ADAM19_uc003lww.1_Missense_Mutation_p.P575H|ADAM19_uc003lwy.2_Missense_Mutation_p.P441H|ADAM19_uc011ddr.1_Missense_Mutation_p.P773H NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 842 Cytoplasmic (Potential).|SH3-binding (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTTGGTGCGGGGGGAATTGG 0.562 NA 42 108 1.89013e-27 3.35362e-27 0.00361 1 0 UNC5A 90249 broad.mit.edu 37 5 176297470 176297470 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr5:176297470G>A uc003mey.2 + 6 1013 c.821G>A c.(820-822)GGA>GAA p.G274E UNC5A_uc003mex.1_Missense_Mutation_p.G274E|UNC5A_uc010jkg.1_Missense_Mutation_p.G234E NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 274 TSP type-1.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCGCAACGGAGGGGAGGAG 0.642 NA 15 50 0 0 0.004007 0 0 F13A1 2162 broad.mit.edu 37 6 6318847 6318847 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:6318847G>A uc003mwv.2 - 2 174 c.51C>T c.(49-51)CCC>CCT p.P17P F13A1_uc011dib.1_Silent_p.P17P NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 17 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TAGAGTTATTGGGTGGAACTG 0.502 NA 28 108 0 0 0.012213 0 0 ELOVL2 54898 broad.mit.edu 37 6 10995395 10995395 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:10995395C>A uc003mzp.3 - 5 511 c.350G>T c.(349-351)TGG>TTG p.W117L NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN elongation of very long chain fatty acids-like 117 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) ATAGTACCACCAAAGCACCTT 0.438 NA 19 26 3.8784e-16 5.96161e-16 0.012319 1 0 SLC17A1 6568 broad.mit.edu 37 6 25813179 25813179 + Silent SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:25813179A>C uc003nfh.3 - 8 893 c.777T>G c.(775-777)CTT>CTG p.L259L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.L257L|SLC17A1_uc010jqc.1_Intron NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 259 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GAAGCGACTTAAGTATAGCCT 0.383 NA 30 23 0 0 0.003755 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26157085 26157085 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:26157085A>G uc003ngq.2 + 1 527 c.467A>G c.(466-468)AAG>AGG p.K156R HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 156 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 AAGACCCCAAAGAAGGCGAAG 0.627 NA 5 6 0 0 0.000602 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158556 26158556 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:26158556C>A uc003ngr.2 + 1 208 c.159C>A c.(157-159)ACC>ACA p.T53T HIST1H2BD_uc003ngs.2_Silent_p.T53T NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 53 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 ATCCCGACACCGGCATCTCTT 0.557 NA 91 75 6.04572e-29 1.08196e-28 0.00361 1 0 OR11A1 26531 broad.mit.edu 37 6 29394980 29394980 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:29394980C>A uc003nmg.2 - 1 530 c.439G>T c.(439-441)GTC>TTC p.V147F NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAGGTTGTGACCACCAGCCCC 0.567 NA 13 31 1.5842e-08 2.04105e-08 0.001855 1 0 C6orf15 29113 broad.mit.edu 37 6 31079369 31079369 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:31079369T>C uc003nsk.1 - 2 767 c.767A>G c.(766-768)TAT>TGT p.Y256C NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 256 Gly-rich. 0 GCCTCCTGGATACCGATTAAT 0.522 NA 27 20 0 0 0.009535 0 0 BAT2 7916 broad.mit.edu 37 6 31599147 31599147 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:31599147C>T uc003nvb.3 + 16 2946 c.2697C>T c.(2695-2697)GGC>GGT p.G899G BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.G899G NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 899 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CAGAAGCAGGCCGAAAGCCTG 0.667 NA 8 14 0 0 0.004482 0 0 TNXB 7148 broad.mit.edu 37 6 32014146 32014146 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:32014146A>T uc003nzl.2 - 31 10608 c.10406T>A c.(10405-10407)GTA>GAA p.V3469E TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3516 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GCCCTGGGCTACCGTCCAGGA 0.662 NA 9 8 0 0 0.006214 0 0 TAP1 6890 broad.mit.edu 37 6 32818283 32818283 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:32818283C>A uc003ocg.2 - 5 1397 c.1242G>T c.(1240-1242)GTG>GTT p.V414V TAP1_uc011dqi.1_Silent_p.V153V NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 414 Cytoplasmic (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 CCCGCACCTGCACTTCCAGCA 0.527 NA 7 25 2.0095e-06 2.37243e-06 0.001984 1 0 SPDEF 25803 broad.mit.edu 37 6 34512074 34512074 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:34512074C>A uc003ojq.1 - 2 574 c.159G>T c.(157-159)CAG>CAT p.Q53H SPDEF_uc011dsq.1_Missense_Mutation_p.Q53H NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 53 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 CGGACAGGCCCTGCTCGGGCG 0.682 NA 16 16 2.4624e-09 3.23287e-09 0.008871 1 0 CPNE5 57699 broad.mit.edu 37 6 36724072 36724073 + Missense_Mutation DNP CC CC AA TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:36724072_36724073CC>AA uc003omr.1 - 13 925_926 c.858_859GG>TT c.(856-861)GTGGTA>GTTTTA p.V287L CPNE5_uc003omp.1_5'UTR|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN copine V 287 skin(1) 1 TTCGGGTTTACCACCTGCAGGA 0.53 NA 7 20 0 0 0.004672 0 0 LRFN2 57497 broad.mit.edu 37 6 40399866 40399866 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:40399866C>A uc003oph.1 - 2 1452 c.987G>T c.(985-987)CTG>CTT p.L329L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 329 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTTCCCTACCAGGCGGTCAT 0.587 NA 17 18 7.81268e-19 1.28013e-18 0.00499 1 0 EFHC1 114327 broad.mit.edu 37 6 52343958 52343958 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:52343958G>T uc003pap.3 + 8 1617 c.1402G>T c.(1402-1404)GGC>TGC p.G468C EFHC1_uc011dwv.1_Missense_Mutation_p.G377C|EFHC1_uc011dww.1_Missense_Mutation_p.G449C NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 468 DM10 3. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) CAAGTACCTTGGCAGGACTAA 0.453 NA 20 81 8.10497e-08 1.01886e-07 0.010504 1 0 HCRTR2 3062 broad.mit.edu 37 6 55119937 55119937 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:55119937G>T uc003pcl.2 + 3 721 c.406G>T c.(406-408)GTG>TTG p.V136L HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.V71L NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 136 Helical; Name=3; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCTCTAGACCGTGTCGGTGTC 0.413 NA 19 19 1.9806e-07 2.44038e-07 0.002299 1 0 ZNF451 26036 broad.mit.edu 37 6 57012581 57012581 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:57012581A>G uc003pdm.1 + 10 1922 c.1698A>G c.(1696-1698)GTA>GTG p.V566V ZNF451_uc003pdl.2_Silent_p.V566V|ZNF451_uc003pdn.1_Silent_p.V566V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.V566V NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGGATGAGGTAGAAGGTGAAA 0.378 NA 55 44 0 0 0.00361 0 0 PRIM2 5558 broad.mit.edu 37 6 57398234 57398234 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:57398234C>A uc003pdx.2 + 10 1024 c.937C>A c.(937-939)CTG>ATG p.L313M NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 313 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TGTCCTATTTCTGAAGGGCAT 0.388 NA 22 96 2.32416e-17 3.6632e-17 0.002299 1 0 BAI3 577 broad.mit.edu 37 6 70049223 70049223 + Splice_Site SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:70049223A>T uc003pev.3 + 26 3736 c.3288_splice c.e26-2 p.M1096_splice BAI3_uc010kak.2_Splice_Site_p.M1096_splice|BAI3_uc011dxx.1_Splice_Site_p.M302_splice|BAI3_uc003pex.1_Splice_Site_p.M226_splice NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 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) TGGTCTCAACAGGGCGTCTCT 0.483 NA 82 110 0 0 0.00361 0 0 ASCC3 10973 broad.mit.edu 37 6 101214441 101214441 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:101214441C>A uc003pqk.2 - 10 2066 c.1737G>T c.(1735-1737)CAG>CAT p.Q579H ASCC3_uc011eai.1_Missense_Mutation_p.Q481H|ASCC3_uc003pql.2_Missense_Mutation_p.Q579H NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 579 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AACAACATACCTGAGTTCGTA 0.308 NA 33 36 4.4194e-11 5.99225e-11 0.002836 1 0 GRIK2 2898 broad.mit.edu 37 6 102372516 102372517 + Missense_Mutation DNP CC CC AA TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:102372516_102372517CC>AA uc003pqp.3 + 12 2038_2039 c.1789_1790CC>AA c.(1789-1791)CCT>AAT p.P597N GRIK2_uc003pqo.3_Missense_Mutation_p.P597N|GRIK2_uc010kcw.2_Missense_Mutation_p.P597N NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 597 Cytoplasmic (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCCTTGCAACCCTGACTCAGAC 0.396 NA 26 50 0 0 0.004672 0 0 FYN 2534 broad.mit.edu 37 6 112025246 112025246 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:112025246T>A uc003pvj.2 - 6 843 c.503A>T c.(502-504)AAC>ATC p.N168I FYN_uc003pvi.2_Missense_Mutation_p.N168I|FYN_uc003pvk.2_Missense_Mutation_p.N168I|FYN_uc003pvh.2_Missense_Mutation_p.N168I|FYN_uc010kdy.1_5'Flank NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 168 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ACCTCTTGGGTTTCCAAAGGA 0.393 NA 33 20 0 0 0.003755 0 0 GPR126 57211 broad.mit.edu 37 6 142630733 142630733 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:142630733C>T uc010khc.2 + 2 466 c.55C>T c.(55-57)CCT>TCT p.P19S GPR126_uc010khd.2_Missense_Mutation_p.P19S|GPR126_uc010khe.2_Missense_Mutation_p.P19S|GPR126_uc010khf.2_Missense_Mutation_p.P19S|GPR126_uc003qix.2_Missense_Mutation_p.P19S NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GAAGCCCAGTCCTCTCCTGTT 0.413 NA 3 4 0 0 0.004672 0 0 LPA 4018 broad.mit.edu 37 6 160998325 160998325 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:160998325G>T uc003qtl.2 - 29 4594 c.4474C>A c.(4474-4476)CCA>ACA p.P1492T NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4000 Kringle 36. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTCTCAGGTGGTGCTGAAATT 0.433 NA 27 14 1.5548e-18 2.52757e-18 0.005443 1 0 PARK2 5071 broad.mit.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:161969941G>T uc003qtx.3 - 9 1162 c.1028C>A c.(1027-1029)CCG>CAG p.P343Q PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.P152Q|PARK2_uc003qtw.3_Missense_Mutation_p.P152Q|PARK2_uc003qty.3_Missense_Mutation_p.P315Q|PARK2_uc003qtz.3_Missense_Mutation_p.P194Q|PARK2_uc010kke.1_Missense_Mutation_p.P362Q|PARK2_uc011egf.1_Missense_Mutation_p.P17Q NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 343 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTCAGGCTCCGGCAGCAGCCC 0.637 NA 52 18 3.76525e-18 6.08911e-18 0.00361 1 0 TCP10L2 401285 broad.mit.edu 37 6 167592552 167592552 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:167592552A>T uc010kkp.2 + 6 842 c.711A>T c.(709-711)CCA>CCT p.P237P NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 237 0 GAAAATCACCAGTGCAGGCTT 0.577 NA 6 0 0 0 0.008291 0 0 MAD1L1 8379 broad.mit.edu 37 7 2108973 2108973 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:2108973G>A uc003slh.1 - 12 1340 c.1074C>T c.(1072-1074)AGC>AGT p.S358S MAD1L1_uc003sle.1_Silent_p.S87S|MAD1L1_uc003slf.1_Silent_p.S358S|MAD1L1_uc003slg.1_Silent_p.S358S|MAD1L1_uc010ksh.1_Silent_p.S358S|MAD1L1_uc003sli.1_Silent_p.S266S|MAD1L1_uc010ksi.1_Silent_p.S311S|MAD1L1_uc010ksj.2_Silent_p.S358S NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 358 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCCCCCGGGCGCTGCATGGGA 0.662 NA 10 12 0 0 0.008291 0 0 TTYH3 80727 broad.mit.edu 37 7 2696151 2696151 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:2696151C>T uc003smp.2 + 11 1420 c.1233C>T c.(1231-1233)CAC>CAT p.H411H TTYH3_uc010ksn.2_Silent_p.H131H|TTYH3_uc003smq.2_Silent_p.H240H NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 411 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCGTCCCGCACACCTGGCAGC 0.632 NA 10 47 0 0 0.008291 0 0 GLCCI1 113263 broad.mit.edu 37 7 8062173 8062174 + Missense_Mutation DNP TG TG AT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:8062173_8062174TG>AT uc003srk.2 + 3 1229_1230 c.670_671TG>AT c.(670-672)TGG>ATG p.W224M NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 224 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTCTGCGTCATGGGGGAGTGCT 0.356 NA 16 11 0 0 0.004672 0 0 DNAH11 8701 broad.mit.edu 37 7 21730382 21730382 + Splice_Site SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:21730382G>C uc003svc.2 + 36 5977 c.5946_splice c.e36-1 p.R1982_splice NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTTATGGTAGATTTGTATTT 0.353 NA Kartagener_syndrome 26 73 0 0 0.005443 0 0 HOXA6 3203 broad.mit.edu 37 7 27185361 27185361 + Silent SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:27185361G>C uc003syo.1 - 2 618 c.618C>G c.(616-618)CGC>CGG p.R206R HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank NM_024014 NP_076919 P31267 HXA6_HUMAN homeobox A6 206 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 ACTTCATGCGGCGGTTCTGGA 0.602 NA 43 118 0 0 0.009718 0 0 HOXA13 3209 broad.mit.edu 37 7 27238027 27238027 + Nonsense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:27238027A>C uc003szb.1 - 2 986 c.957T>G c.(955-957)TAT>TAG p.Y319* uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 319 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 TCCCCCTCCTATAGGAGCTGG 0.512 NA T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 72 0 0 0.00333 0 0 AEBP1 165 broad.mit.edu 37 7 44148746 44148746 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:44148746C>T uc003tkb.2 + 8 1364 c.1059C>T c.(1057-1059)ACC>ACT p.T353T AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 353 cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGGAGGAGACCGACAAGTGGG 0.612 NA 8 14 0 0 0.008291 0 0 PKD1L1 168507 broad.mit.edu 37 7 47842854 47842854 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:47842854C>T uc003tny.1 - 53 7916 c.7916G>A c.(7915-7917)TGC>TAC p.C2639Y C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2639 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CATGGAGGAGCAGGATGCCAT 0.483 NA 9 39 0 0 0.006214 0 0 ZPBP 11055 broad.mit.edu 37 7 50070781 50070781 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:50070781G>T uc003tou.2 - 5 683 c.613C>A c.(613-615)CTT>ATT p.L205I ZPBP_uc011kci.1_Missense_Mutation_p.L131I|ZPBP_uc010kyw.2_Missense_Mutation_p.L204I NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 205 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TCACATGAAAGGTCAAGAAGC 0.358 NA 12 58 7.03913e-09 9.16415e-09 0.001368 1 0 DDC 1644 broad.mit.edu 37 7 50605628 50605628 + Missense_Mutation SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:50605628A>C uc003tpf.3 - 4 451 c.365T>G c.(364-366)CTC>CGC p.L122R DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.L122R NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 122 2.|2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CATCTTCCCGAGCCAGTCCAT 0.552 NA 17 16 0 0 0.00499 0 0 ZNF716 441234 broad.mit.edu 37 7 57522863 57522863 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:57522863C>A uc011kdi.1 + 3 363 c.251C>A c.(250-252)GCC>GAC p.A84D NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GAGATGGTAGCCAAACACCCA 0.438 NA 16 50 4.14922e-12 5.75148e-12 0.004007 1 0 FZD9 8326 broad.mit.edu 37 7 72849355 72849355 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:72849355C>G uc003tyb.2 + 1 1247 c.1018C>G c.(1018-1020)CTG>GTG p.L340V NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 340 Cytoplasmic (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CACCTGGTTCCTGGCTGCCGG 0.642 Pancreas(144;909 1878 36867 38226 39554) NA 26 35 0 0 0.010818 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86537030 86537030 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:86537030C>A uc011kha.1 - 18 2699 c.2514G>T c.(2512-2514)AGG>AGT p.R838S KIAA1324L_uc003uif.1_Missense_Mutation_p.R598S|KIAA1324L_uc011kgz.1_Missense_Mutation_p.R724S|KIAA1324L_uc003uie.2_Missense_Mutation_p.R671S NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 838 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TAGGATTACACCTCATTTTCA 0.358 NA 31 36 2.61193e-14 3.83454e-14 0.009535 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86568131 86568131 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:86568131T>C uc011kha.1 - 7 1178 c.993A>G c.(991-993)CAA>CAG p.Q331Q KIAA1324L_uc003uif.1_Silent_p.Q91Q|KIAA1324L_uc011kgz.1_Silent_p.Q217Q|KIAA1324L_uc003uie.2_Silent_p.Q164Q NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 331 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TACCTGAAAATTGAGAGTCGT 0.378 NA 23 69 0 0 0.003954 0 0 DBF4 10926 broad.mit.edu 37 7 87530130 87530130 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:87530130G>A uc003ujf.1 + 10 1365 c.861G>A c.(859-861)TTG>TTA p.L287L DBF4_uc003ujh.1_Silent_p.L27L|DBF4_uc003ujg.1_Silent_p.L63L|DBF4_uc011khf.1_Silent_p.L54L NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 287 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) AACTCCAGTTGAAAGAGAAGA 0.353 NA 28 77 0 0 0.010818 0 0 DBF4 10926 broad.mit.edu 37 7 87537065 87537065 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:87537065A>G uc003ujf.1 + 12 2116 c.1612A>G c.(1612-1614)AGT>GGT p.S538G DBF4_uc003ujh.1_Missense_Mutation_p.S278G|DBF4_uc003ujg.1_Missense_Mutation_p.S314G|DBF4_uc011khf.1_Missense_Mutation_p.S305G NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 538 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) AACAATAAACAGTTCACAAGA 0.393 NA 20 55 0 0 0.00278 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762522 92762522 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:92762522G>A uc003umh.1 - 5 3979 c.2763C>T c.(2761-2763)CTC>CTT p.L921L SAMD9L_uc003umj.1_Silent_p.L921L|SAMD9L_uc003umi.1_Silent_p.L921L|SAMD9L_uc010lfb.1_Silent_p.L921L|SAMD9L_uc003umk.1_Silent_p.L921L|SAMD9L_uc010lfc.1_Silent_p.L921L|SAMD9L_uc010lfd.1_Silent_p.L921L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 921 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGAAGGAAATGAGTTGTGCTT 0.358 NA 17 20 0 0 0.007413 0 0 COL1A2 1278 broad.mit.edu 37 7 94052404 94052404 + Missense_Mutation SNP G G A rs72658196 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:94052404G>A uc003ung.1 + 40 3010 c.2539G>A c.(2539-2541)GGT>AGT p.G847S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 847 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGAGAAGGGTCCCTCTGG 0.502 NA HNSCC(75;0.22) 13 55 0 0 0.00245 0 0 PEG10 23089 broad.mit.edu 37 7 94292998 94292998 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:94292998C>A uc011kie.1 + 2 575 c.358C>A c.(358-360)CTT>ATT p.L120I NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 44 Potential. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAACACCACCCTTCGAGAGCA 0.552 NA 5 7 0.000602214 0.000654948 0.000602 1 0 Unknown 0 broad.mit.edu 37 7 99580803 99580803 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:99580803C>A uc003usi.2 + 2 124 c.113C>A c.(112-114)TCC>TAC p.S38Y RecName: Full=Putative zinc-alpha-2-glycoprotein-like 2; Flags: Precursor; NA ACTGGGCTGTCCAGGTCTGGC 0.557 NA 7 4 5.18039e-06 6.02439e-06 0.00308 1 0 C7orf59 389541 broad.mit.edu 37 7 99746545 99746545 + Translation_Start_Site SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:99746545A>T uc003utq.2 + 1 16 c.-50A>T c.(-52--48)GAAGC>GATGC NM_001008395 NP_001008396 Q0VGL1 CG059_HUMAN hypothetical protein LOC389541 0 CGGGGCCTGAAGCCGGAAGCT 0.652 NA 14 30 0 0 0.003163 0 0 TFR2 7036 broad.mit.edu 37 7 100225567 100225567 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:100225567G>T uc003uvv.1 - 13 1609 c.1568C>A c.(1567-1569)CCC>CAC p.P523H TFR2_uc010lhc.1_Missense_Mutation_p.P64H|TFR2_uc003uvu.1_Missense_Mutation_p.P352H NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 523 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGTCAGAAGGGGGCTGGTCTT 0.607 NA 36 33 2.40579e-17 3.78227e-17 0.00623 1 0 RELN 5649 broad.mit.edu 37 7 103234901 103234902 + Missense_Mutation DNP GG GG TT TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103234901_103234902GG>TT uc003vca.2 - 26 3737_3738 c.3577_3578CC>AA c.(3577-3579)CCT>AAT p.P1193N RELN_uc010liz.2_Missense_Mutation_p.P1193N NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1193 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) CCTGGTGCAAGGGGTCTTGGCA 0.48 NSCLC(146;835 1944 15585 22231 52158) NA 32 117 0 0 0.004672 0 0 RELN 5649 broad.mit.edu 37 7 103292158 103292158 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103292158A>T uc003vca.2 - 15 2002 c.1842T>A c.(1840-1842)GCT>GCA p.A614A RELN_uc010liz.2_Silent_p.A614A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 614 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) GGTGGGGTCCAGCACAGATCT 0.473 NSCLC(146;835 1944 15585 22231 52158) NA 7 35 0 0 0.001984 0 0 RELN 5649 broad.mit.edu 37 7 103292171 103292171 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103292171G>C uc003vca.2 - 15 1989 c.1829C>G c.(1828-1830)CCT>CGT p.P610R RELN_uc010liz.2_Missense_Mutation_p.P610R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 610 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) ACAGATCTCAGGTAAGCATTC 0.473 NSCLC(146;835 1944 15585 22231 52158) NA 6 34 0 0 0.001168 0 0 RELN 5649 broad.mit.edu 37 7 103322703 103322703 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103322703G>T uc003vca.2 - 11 1309 c.1149C>A c.(1147-1149)AGC>AGA p.S383R RELN_uc010liz.2_Missense_Mutation_p.S383R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 383 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) CTGACTGACAGCTATGCTGTA 0.408 NSCLC(146;835 1944 15585 22231 52158) NA 17 58 3.99206e-14 5.84686e-14 0.007413 1 0 ORC5L 5001 broad.mit.edu 37 7 103838232 103838232 + Nonsense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:103838232C>A uc003vcb.2 - 4 493 c.382G>T c.(382-384)GAG>TAG p.E128* ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Nonsense_Mutation_p.E128*|ORC5L_uc003vcd.2_Nonsense_Mutation_p.E128* NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 128 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 CTTAGATACTCTGCTTTATCT 0.199 NA 20 16 2.39556e-15 3.6284e-15 0.00278 1 0 LAMB4 22798 broad.mit.edu 37 7 107696229 107696229 + Silent SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:107696229A>G uc010ljo.1 - 25 3687 c.3603T>C c.(3601-3603)GCT>GCC p.A1201A LAMB4_uc003vey.2_Silent_p.A1201A|LAMB4_uc010ljp.1_Silent_p.A170A NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1201 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CTTCCATGTTAGCAGCCAGTC 0.458 NA 13 43 0 0 0.00245 0 0 THAP5 168451 broad.mit.edu 37 7 108205269 108205269 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:108205269T>A uc003vfm.2 - 3 708 c.554A>T c.(553-555)AAC>ATC p.N185I THAP5_uc003vfl.2_Missense_Mutation_p.N143I NM_001130475 NP_001123947 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 isoform 1 185 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding 0 TGTATCTTGGTTAACTGATGT 0.333 NA 11 28 0 0 0.001368 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432001 117432001 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:117432001G>T uc003vjf.2 - 4 1341 c.1249C>A c.(1249-1251)CCT>ACT p.P417T NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 417 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGTTCTGAGGAGCTATGCCT 0.527 NA 55 61 1.48341e-19 2.4697e-19 0.00361 1 0 GPR37 2861 broad.mit.edu 37 7 124404849 124404849 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:124404849T>A uc003vli.2 - 1 833 c.182A>T c.(181-183)AAT>ATT p.N61I NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 61 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TCTTGCAGAATTTCCCGGTCC 0.687 NA 21 14 0 0 0.012319 0 0 LRGUK 136332 broad.mit.edu 37 7 133881855 133881855 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:133881855G>T uc003vrm.1 + 13 1559 c.1543G>T c.(1543-1545)GAA>TAA p.E515* NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 515 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 TATGGAAATAGAAGTAAGTGT 0.224 NA 10 39 1.58986e-06 1.88777e-06 0.008291 1 0 DGKI 9162 broad.mit.edu 37 7 137263069 137263069 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:137263069C>A uc003vtt.2 - 16 1646 c.1645G>T c.(1645-1647)GCA>TCA p.A549S DGKI_uc003vtu.2_Missense_Mutation_p.A249S NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 549 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TCTGGATTTGCTTCTGTGAAA 0.378 NA 6 37 0.00198382 0.00210951 0.001984 1 0 OR9A4 130075 broad.mit.edu 37 7 141619191 141619191 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:141619191T>C uc003vwu.1 + 1 516 c.516T>C c.(514-516)AAT>AAC p.N172N NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) GCAAATCAAATGTGGTGAACA 0.393 NA 39 88 0 0 0.006999 0 0 FAM131B 9715 broad.mit.edu 37 7 143054044 143054044 + Missense_Mutation SNP A A G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:143054044A>G uc003wct.2 - 6 2304 c.598T>C c.(598-600)TCG>CCG p.S200P FAM131B_uc010loz.2_Missense_Mutation_p.S168P|FAM131B_uc003wcu.3_Missense_Mutation_p.S200P|FAM131B_uc010lpa.2_Missense_Mutation_p.S228P NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 200 0 Melanoma(164;0.205) GCATCTGACGACCCCAGACAG 0.557 NA 5 30 0 0 0.001168 0 0 FAM131B 9715 broad.mit.edu 37 7 143057165 143057165 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:143057165G>T uc003wct.2 - 1 1728 c.22C>A c.(22-24)CAC>AAC p.H8N FAM131B_uc010loz.2_5'Flank|FAM131B_uc003wcu.3_Missense_Mutation_p.H8N|FAM131B_uc010lpa.2_Missense_Mutation_p.H36N|ZYX_uc011ktd.1_5'Flank NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 8 0 Melanoma(164;0.205) CTGCTCCCGTGCAGTGAGCTG 0.572 NA 6 13 5.18039e-06 6.02439e-06 0.00308 1 0 AGAP3 116988 broad.mit.edu 37 7 150839674 150839674 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:150839674G>C uc003wjg.1 + 16 2229 c.2226G>C c.(2224-2226)TGG>TGC p.W742C AGAP3_uc003wje.1_Missense_Mutation_p.W411C|AGAP3_uc003wjj.1_Missense_Mutation_p.W241C|AGAP3_uc003wjk.1_Missense_Mutation_p.W160C NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 706 Arf-GAP. 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 ACAGCGTCTGGGAGGGGGCCT 0.662 NA 13 16 0 0 0.001855 0 0 CSMD1 64478 broad.mit.edu 37 8 3265713 3265713 + Silent SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:3265713C>T uc011kwk.1 - 14 2172 c.1782G>A c.(1780-1782)GGG>GGA p.G594G CSMD1_uc011kwj.1_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 594 Extracellular (Potential).|CUB 4. 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) ACAGAATAATCCCAGATGATG 0.373 NA 5 9 0 0 0.00308 0 0 SPAG11A 653423 broad.mit.edu 37 8 7718286 7718286 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:7718286G>T uc003wrx.2 + 3 500 c.465G>T c.(463-465)AGG>AGT p.R155S SPAG11A_uc003wry.2_3'UTR|SPAG11A_uc003wrz.2_Intron|SPAG11A_uc003wsa.2_Intron|SPAG11A_uc003wsb.2_Intron NM_001081552 NP_001075021 Q6PDA7 SG11A_HUMAN sperm associated antigen 11A Error:Variant_position_missing_in_Q6PDA7_after_alignment extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCTGGAATAGGTGTTGCGTAT 0.358 NA 7 30 1.12685e-05 1.2911e-05 0.004482 1 0 RP1L1 94137 broad.mit.edu 37 8 10480505 10480505 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:10480505G>T uc003wtc.2 - 2 436 c.207C>A c.(205-207)TCC>TCA p.S69S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 69 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCACGCGCTGGGAGAGCTCGT 0.652 NA 6 12 3.59834e-05 4.05547e-05 0.001168 1 0 EPHX2 2053 broad.mit.edu 37 8 27364421 27364421 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:27364421G>T uc003xfu.2 + 5 651 c.570G>T c.(568-570)CTG>CTT p.L190L EPHX2_uc010lut.1_Silent_p.L190L|EPHX2_uc010luu.2_Silent_p.L190L|EPHX2_uc010luv.2_Silent_p.L124L|EPHX2_uc003xfv.2_Silent_p.L137L|EPHX2_uc010luw.2_Silent_p.L124L|EPHX2_uc011lam.1_Silent_p.L46L NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 190 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GGGCTAATCTGAAGCCAGCCC 0.498 NA 19 29 9.7654e-05 0.000108875 0.007413 1 0 KCNU1 157855 broad.mit.edu 37 8 36793073 36793073 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:36793073C>A uc010lvw.2 + 27 3172 c.3085C>A c.(3085-3087)CCT>ACT p.P1029T NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1029 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAAGCTGCTGCCTTCAGATCT 0.438 NA 56 58 2.40265e-35 4.45387e-35 0.00361 1 0 FGFR1 2260 broad.mit.edu 37 8 38274924 38274924 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:38274924T>C uc003xlp.2 - 13 2505 c.1563A>G c.(1561-1563)ACA>ACG p.T521T FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.T519T|FGFR1_uc011lbp.1_Silent_p.T432T|FGFR1_uc011lbq.1_Silent_p.T430T|FGFR1_uc010lwk.2_Silent_p.T511T NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 521 Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AGTCTTTCTCTGTTGCGTCCG 0.502 Melanoma(146;1153 1840 21453 21841 43625) 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 66 26 0 0 0.00361 0 0 CLVS1 157807 broad.mit.edu 37 8 62212569 62212569 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:62212569C>G uc003xuh.2 + 2 507 c.183C>G c.(181-183)ATC>ATG p.I61M CLVS1_uc003xug.2_Missense_Mutation_p.I61M|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.I61M NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 61 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 ACATGATCATCACCAGGCCTG 0.473 NA 26 60 0 0 0.003954 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992626 66992626 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:66992626C>A uc003xvs.1 + 5 639 c.348C>A c.(346-348)ATC>ATA p.I116I DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 116 protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TGTTTGTCATCGTTGGCCTCT 0.423 NA 27 69 4.34311e-12 5.9802e-12 0.003271 1 0 MYBL1 4603 broad.mit.edu 37 8 67509761 67509761 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:67509761C>A uc003xwj.2 - 5 723 c.316G>T c.(316-318)GGG>TGG p.G106W MYBL1_uc003xwl.2_Missense_Mutation_p.G106W|MYBL1_uc003xwk.2_Missense_Mutation_p.G106W NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 106 HTH myb-type 2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CTTTTTGGCCCATATTTCTGA 0.299 NA 23 27 2.89027e-11 3.93609e-11 0.002299 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768253 77768253 + Silent SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:77768253T>A uc003yav.2 + 10 9348 c.8961T>A c.(8959-8961)ATT>ATA p.I2987I ZFHX4_uc003yau.1_Silent_p.I3032I|ZFHX4_uc003yaw.1_Silent_p.I2987I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2987 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) AACAGCACATTTCAAAAGTGA 0.532 NA HNSCC(33;0.089) 21 43 0 0 0.012319 0 0 PSKH2 85481 broad.mit.edu 37 8 87081723 87081723 + Silent SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:87081723C>A uc011lfy.1 - 1 129 c.129G>T c.(127-129)GCG>GCT p.A43A NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 43 ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) GTATCCTCTGCGCCGCCTGGG 0.697 NA 15 9 1.99824e-07 2.45238e-07 0.00499 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242304 87242305 + Missense_Mutation DNP GC GC AG TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:87242304_87242305GC>AG uc003ydq.1 - 1 300_301 c.202_203GC>CT c.(202-204)GCA>CTA p.A68L SLC7A13_uc003ydr.1_Missense_Mutation_p.A68L NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 68 Cytoplasmic (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 ACTTATCTCTGCAGAGCAAAGA 0.48 NA 42 31 0 0 0.004672 0 0 NBN 4683 broad.mit.edu 37 8 90949303 90949303 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:90949303C>G uc003yej.1 - 15 2295 c.2185G>C c.(2185-2187)GTA>CTA p.V729L NBN_uc003yei.1_Missense_Mutation_p.V647L|NBN_uc011lgb.1_Intron NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 729 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGATTTTGTACCTGTCAAAAT 0.313 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 35 35 0 0 0.002836 0 0 OSR2 116039 broad.mit.edu 37 8 99961564 99961564 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:99961564G>C uc003yir.2 + 2 919 c.384G>C c.(382-384)GAG>GAC p.E128D OSR2_uc010mbn.2_Missense_Mutation_p.E128D|OSR2_uc003yiq.2_Missense_Mutation_p.E128D|OSR2_uc011lgx.1_Missense_Mutation_p.E249D NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 128 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CCACGCAAGAGGATCCGCCTA 0.617 NA 49 130 0 0 0.00361 0 0 NCALD 83988 broad.mit.edu 37 8 102731843 102731843 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:102731843G>A uc003yke.2 - 2 384 c.15C>T c.(13-15)AAC>AAT p.N5N NCALD_uc003ykf.2_Silent_p.N5N|NCALD_uc003ykg.2_Silent_p.N5N|NCALD_uc003ykh.2_Silent_p.N5N|NCALD_uc003yki.2_Silent_p.N5N|NCALD_uc003ykj.2_Silent_p.N5N|NCALD_uc003ykk.2_Silent_p.N5N|NCALD_uc003ykl.2_Silent_p.N5N NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 5 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GCAGCTTGCTGTTCTGTTTCC 0.453 NA 41 105 0 0 0.010771 0 0 LRP12 29967 broad.mit.edu 37 8 105503136 105503136 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:105503136C>A uc003yma.2 - 7 2440 c.2345G>T c.(2344-2346)GGA>GTA p.G782V LRP12_uc003ymb.2_Missense_Mutation_p.G763V|LRP12_uc003ylz.2_Missense_Mutation_p.G188V NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 782 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTCTGAAGATCCATCAGAAAT 0.408 NA 31 108 2.08457e-15 3.17284e-15 0.010818 1 0 CSMD3 114788 broad.mit.edu 37 8 113299337 113299337 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:113299337C>G uc003ynu.2 - 58 9446 c.9287G>C c.(9286-9288)TGT>TCT p.C3096S CSMD3_uc003yns.2_Missense_Mutation_p.C2298S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3056S|CSMD3_uc011lhx.1_Missense_Mutation_p.C2927S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3096 Extracellular (Potential).|Sushi 22. 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 ATTAGCTAAACATGTTCTTTC 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 104 0 0 0.010771 0 0 CSMD3 114788 broad.mit.edu 37 8 113347651 113347651 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:113347651C>A uc003ynu.2 - 45 7231 c.7072G>T c.(7072-7074)GCT>TCT p.A2358S CSMD3_uc003yns.2_Missense_Mutation_p.A1560S|CSMD3_uc003ynt.2_Missense_Mutation_p.A2318S|CSMD3_uc011lhx.1_Missense_Mutation_p.A2254S|CSMD3_uc003ynw.1_Missense_Mutation_p.A69S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2358 Extracellular (Potential).|CUB 13. 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 GATTCCAAAGCGGTATTGCCA 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 30 7.11191e-15 1.06679e-14 0.002836 1 0 COL14A1 7373 broad.mit.edu 37 8 121228707 121228707 + Missense_Mutation SNP C C G rs150549316 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:121228707C>G uc003yox.2 + 14 1980 c.1715C>G c.(1714-1716)GCA>GGA p.A572G COL14A1_uc003yoy.2_Missense_Mutation_p.A250G|COL14A1_uc010mde.1_Missense_Mutation_p.A250G NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 572 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TATAACAATGCAGATGGGACT 0.323 NA 70 65 0 0 0.00361 0 0 TG 7038 broad.mit.edu 37 8 133945830 133945830 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:133945830G>A uc003ytw.2 + 24 4882 c.4841G>A c.(4840-4842)AGC>AAC p.S1614N TG_uc010mdw.2_Missense_Mutation_p.S373N|TG_uc011ljb.1_Missense_Mutation_p.S47N NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1614 Type IIIA. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGCCTGCAGCTTCTTCACC 0.572 NA 39 109 0 0 0.009718 0 0 SLA 6503 broad.mit.edu 37 8 134050794 134050794 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:134050794G>T uc003ytz.2 - 9 1638 c.806C>A c.(805-807)TCA>TAA p.S269* TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Nonsense_Mutation_p.S286*|SLA_uc011ljf.1_Nonsense_Mutation_p.S161*|SLA_uc011ljg.1_Nonsense_Mutation_p.S242*|SLA_uc011ljd.1_Nonsense_Mutation_p.S309* NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 269 SLA C-terminal. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) AGGTGGTGATGAGAAGAATGA 0.468 NA 62 155 3.86002e-21 6.54937e-21 0.00361 1 0 COL22A1 169044 broad.mit.edu 37 8 139788254 139788254 + Splice_Site SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:139788254C>G uc003yvd.2 - 16 2206 c.1759_splice c.e16-1 p.G587_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTGGAGACCCTGGGGGACAA 0.507 NA HNSCC(7;0.00092) 18 92 0 0 0.006122 0 0 OPLAH 26873 broad.mit.edu 37 8 145113021 145113021 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:145113021C>T uc003zar.3 - 8 1062 c.980G>A c.(979-981)GGG>GAG p.G327E OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.G105E NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 327 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CTCGAATTCCCCAGCATAGCG 0.682 NA 24 76 0 0 0.003954 0 0 CPSF1 29894 broad.mit.edu 37 8 145634558 145634558 + Splice_Site SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:145634558T>A uc003zcj.2 - 2 62 c.-13_splice c.e2-1 CPSF1_uc011lle.1_5'UTR|CPSF1_uc011llf.1_Splice_Site|CPSF1_uc003zcl.1_Splice_Site NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 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) CAACCCGGGCTGCGCAAGGCC 0.468 NSCLC(133;1088 1848 27708 34777 35269) NA 60 42 0 0 0.00361 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776906 18776906 + Silent SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:18776906G>T uc003zne.3 + 19 2806 c.2679G>T c.(2677-2679)ACG>ACT p.T893T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 893 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TCCCCAAGACGGCGGTGGTGC 0.682 NA 37 4 9.62906e-15 1.44088e-14 0.00623 1 0 TMC1 117531 broad.mit.edu 37 9 75357402 75357402 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:75357402G>T uc004aiz.1 + 10 1036 c.496G>T c.(496-498)GCG>TCG p.A166S TMC1_uc010moz.1_Missense_Mutation_p.A124S|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A20S|TMC1_uc010mpa.1_Missense_Mutation_p.A20S NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 166 Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane ovary(1) 1 CTTCAAAGCTGCGTGTGTCCC 0.368 Pancreas(75;173 1345 14232 34245 43413) NA 15 21 1.15088e-07 1.42939e-07 0.004007 1 0 TRPM6 140803 broad.mit.edu 37 9 77377235 77377235 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:77377235C>A uc004ajl.1 - 26 4590 c.4352G>T c.(4351-4353)GGA>GTA p.G1451V TRPM6_uc004ajk.1_Missense_Mutation_p.G1446V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.G407V NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1451 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTTTACATATCCACCTCCAGT 0.478 NA 27 29 8.58068e-18 1.36631e-17 0.007291 1 0 PRUNE2 158471 broad.mit.edu 37 9 79321559 79321559 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:79321559C>A uc010mpk.2 - 8 5755 c.5631G>T c.(5629-5631)GAG>GAT p.E1877D PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1877 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTTCCACGGGCTCAATATCAC 0.463 NA 9 10 1.12685e-05 1.2911e-05 0.004482 1 0 PRUNE2 158471 broad.mit.edu 37 9 79323135 79323135 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:79323135G>C uc010mpk.2 - 8 4179 c.4055C>G c.(4054-4056)GCC>GGC p.A1352G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1352 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AATCCCTGAGGCATTCTCCAC 0.502 NA 25 24 0 0 0.004656 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88292465 88292465 + Nonsense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:88292465T>A uc011ltd.1 - 5 355 c.322A>T c.(322-324)AAA>TAA p.K108* AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.K50*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.K108*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.K160* NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 108 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GAACCACCTTTGGTGACTAAG 0.284 NA 16 42 0 0 0.006122 0 0 S1PR3 1903 broad.mit.edu 37 9 91616117 91616117 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:91616117T>A uc004aqe.2 + 2 398 c.2T>A c.(1-3)ATG>AAG p.M1K NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 1 Extracellular (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 TGCCAAGTGATGGCAACTGCC 0.607 NA OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 53 0 0 0.010504 0 0 ZNF484 83744 broad.mit.edu 37 9 95609812 95609812 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:95609812C>A uc004asu.1 - 5 1406 c.1257G>T c.(1255-1257)AAG>AAT p.K419N ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.K421N|ZNF484_uc010mrb.1_Missense_Mutation_p.K383N|ZNF484_uc004asv.1_Missense_Mutation_p.K383N NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 419 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGATAAAGGCCTTCCCACATT 0.358 NA 26 35 1.1804e-14 1.75786e-14 0.003954 1 0 COL15A1 1306 broad.mit.edu 37 9 101748161 101748161 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:101748161A>T uc004azb.1 + 3 621 c.415A>T c.(415-417)ACG>TCG p.T139S COL15A1_uc004aza.2_Missense_Mutation_p.T139S NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 139 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CCTCTACTACACGGAGCCAGG 0.612 NA 14 49 0 0 0.00245 0 0 MURC 347273 broad.mit.edu 37 9 103348395 103348395 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:103348395G>T uc004bba.2 + 2 847 c.757G>T c.(757-759)GAG>TAG p.E253* NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 253 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) ACAGTCAGGGGAGAGGTTTAA 0.502 NA 17 72 2.35188e-11 3.20993e-11 0.006122 1 0 KIAA0368 23392 broad.mit.edu 37 9 114156013 114156013 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:114156013G>T uc004bfe.1 - 28 3458 c.3458C>A c.(3457-3459)TCT>TAT p.S1153Y NM_001080398 NP_001073867 KIAA0368 protein 0 TTTAAGATGAGACTGAAAGAA 0.303 NA 5 23 0.000602214 0.000654948 0.000602 1 0 AKNA 80709 broad.mit.edu 37 9 117118346 117118346 + Missense_Mutation SNP T T A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:117118346T>A uc004biq.3 - 13 3052 c.2917A>T c.(2917-2919)AGG>TGG p.R973W AKNA_uc004bin.3_Missense_Mutation_p.R220W|AKNA_uc004bio.3_Missense_Mutation_p.R433W|AKNA_uc004bip.3_Missense_Mutation_p.R892W|AKNA_uc004bir.3_Missense_Mutation_p.R973W|AKNA_uc004bis.3_Missense_Mutation_p.R973W|AKNA_uc010mve.2_Missense_Mutation_p.R854W|AKNA_uc004bit.1_5'Flank NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 973 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 AGAGAACCCCTGGCCTTGGGG 0.632 NA 22 26 0 0 0.012319 0 0 TTLL11 158135 broad.mit.edu 37 9 124801637 124801637 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:124801637C>A uc004blt.1 - 2 931 c.743G>T c.(742-744)GGC>GTC p.G248V TTLL11_uc011lyl.1_Missense_Mutation_p.G248V|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_5'UTR|TTLL11_uc004blu.1_Missense_Mutation_p.G248V NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 248 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CAAGCGCCGGCCAAATGGGAA 0.438 NA 17 9 0.000566183 0.000619014 0.00499 1 0 OR1J4 26219 broad.mit.edu 37 9 125282291 125282291 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:125282291G>T uc011lyw.1 + 1 872 c.872G>T c.(871-873)AGC>ATC p.S291I NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCATTTATAGCCTAAGGAAC 0.448 NA 7 26 0.00448238 0.00470991 0.004482 1 0 PRDM12 59335 broad.mit.edu 37 9 133542010 133542010 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:133542010C>G uc004bzt.1 + 2 299 c.239C>G c.(238-240)TCC>TGC p.S80C NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CAGAAGCTGTCCAGCCTGGTG 0.687 NA 27 24 0 0 0.005443 0 0 TSC1 7248 broad.mit.edu 37 9 135781222 135781222 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:135781222G>A uc004cca.2 - 15 1977 c.1743C>T c.(1741-1743)TTC>TTT p.F581F TSC1_uc004ccb.3_Silent_p.F580F|TSC1_uc011mcq.1_Silent_p.F530F|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 581 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GACTGGGAGTGAAGATACTGG 0.537 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 9 22 0 0 0.006214 0 0 QSOX2 169714 broad.mit.edu 37 9 139107123 139107123 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:139107123T>C uc010nbi.2 - 10 1275 c.1237A>G c.(1237-1239)ATA>GTA p.I413V NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 413 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) ACCCACTTTATGTGATTAGTA 0.393 NA 16 9 0 0 0.00499 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071195 141071195 + Missense_Mutation SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:141071195C>T uc004com.2 + 4 859 c.598C>T c.(598-600)CCA>TCA p.P200S TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGGCTTTGCCCCACTGACCAG 0.622 NA 13 49 0 0 0.00245 0 0 CSF2RA 1438 broad.mit.edu 37 X 1419441 1419441 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:1419441G>T uc010nct.2 + 11 1190 c.868G>T c.(868-870)GCA>TCA p.A290S CSF2RA_uc011mhb.1_Missense_Mutation_p.A290S|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.A290S|CSF2RA_uc004cpo.2_Missense_Mutation_p.A290S|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.A157S|CSF2RA_uc004cpp.2_Missense_Mutation_p.A290S|CSF2RA_uc010ncv.2_Missense_Mutation_p.A290S|CSF2RA_uc004cpr.2_Missense_Mutation_p.A290S NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 290 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGAGCCCAGAGCAAAACACAG 0.443 Esophageal Squamous(131;723 1707 25334 40494 41806) NA 24 53 1.10513e-12 1.54918e-12 0.002299 1 0 MXRA5 25878 broad.mit.edu 37 X 3229560 3229560 + Silent SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:3229560A>T uc004crg.3 - 7 6841 c.6684T>A c.(6682-6684)GGT>GGA p.G2228G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2228 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTAGTCATCACCAACCTTAT 0.498 NA 35 9 0 0 0.004878 0 0 ARHGAP6 395 broad.mit.edu 37 X 11682515 11682515 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:11682515C>A uc004cup.1 - 1 1307 c.434G>T c.(433-435)GGG>GTG p.G145V ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.G145V NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 145 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 ACTGGCTGGCCCGGCCAGGAC 0.617 NA 15 0 7.93312e-07 9.54742e-07 0.00245 1 0 TLR7 51284 broad.mit.edu 37 X 12904999 12904999 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:12904999C>A uc004cvc.2 + 3 1511 c.1372C>A c.(1372-1374)CAG>AAG p.Q458K NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 458 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TTATGAACCCCAGGTCCTGGA 0.368 NA 68 14 7.75977e-34 1.42569e-33 0.00361 1 0 POLA1 5422 broad.mit.edu 37 X 24767091 24767091 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:24767091G>A uc004dbl.2 + 26 2951 c.2928G>A c.(2926-2928)GTG>GTA p.V976V NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 976 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) CTGCCTTGGTGACATACAAAG 0.408 NA 27 9 0 0 0.007291 0 0 FAM47B 170062 broad.mit.edu 37 X 34962075 34962075 + Missense_Mutation SNP A A T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:34962075A>T uc004ddi.1 + 1 1145 c.1127A>T c.(1126-1128)AAG>ATG p.K376M NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 376 ovary(3)|breast(1) 4 GAACTCACCAAGCCTGGTAAA 0.537 NA 23 4 0 0 0.00278 0 0 ZNF81 347344 broad.mit.edu 37 X 47775357 47775357 + Nonsense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:47775357G>T uc010nhy.1 + 6 1680 c.1312G>T c.(1312-1314)GGA>TGA p.G438* NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 438 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) AATTCATACAGGAGAGAGGTC 0.433 NA 28 5 4.87955e-14 7.11315e-14 0.005443 1 0 CDX4 1046 broad.mit.edu 37 X 72667443 72667443 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:72667443T>C uc011mqk.1 + 1 354 c.354T>C c.(352-354)CCT>CCC p.P118P NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 118 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) ACTTGGGCCCTGTGGGCGGTG 0.662 NA 8 3 0 0 0.008291 0 0 TBX22 50945 broad.mit.edu 37 X 79282284 79282284 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:79282284C>G uc010nmg.1 + 6 849 c.715C>G c.(715-717)CAG>GAG p.Q239E TBX22_uc004edi.1_Missense_Mutation_p.Q119E|TBX22_uc004edj.1_Missense_Mutation_p.Q239E NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 239 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GTCCCAGATTCAGTCCTTGCC 0.448 NA 32 5 0 0 0.010818 0 0 BRWD3 254065 broad.mit.edu 37 X 79936987 79936987 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:79936987C>A uc004edt.2 - 40 4770 c.4507G>T c.(4507-4509)GCT>TCT p.A1503S BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.A1099S|BRWD3_uc004edp.2_Missense_Mutation_p.A1332S|BRWD3_uc004edq.2_Missense_Mutation_p.A1099S|BRWD3_uc010nmj.1_Missense_Mutation_p.A1099S|BRWD3_uc004edr.2_Missense_Mutation_p.A1173S|BRWD3_uc004eds.2_Missense_Mutation_p.A1099S|BRWD3_uc004edu.2_Missense_Mutation_p.A1173S|BRWD3_uc004edv.2_Missense_Mutation_p.A1099S|BRWD3_uc004edw.2_Missense_Mutation_p.A1099S|BRWD3_uc004edx.2_Missense_Mutation_p.A1099S|BRWD3_uc004edy.2_Missense_Mutation_p.A1099S|BRWD3_uc004edz.2_Missense_Mutation_p.A1173S|BRWD3_uc004eea.2_Missense_Mutation_p.A1173S|BRWD3_uc004eeb.2_Missense_Mutation_p.A1099S NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1503 ovary(4) 4 AGCCCTTCAGCAGCATCTGAA 0.368 NA 40 9 1.67305e-13 2.38842e-13 0.00623 1 0 HDX 139324 broad.mit.edu 37 X 83591885 83591885 + Missense_Mutation SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:83591885T>C uc004eek.1 - 7 1773 c.1664A>G c.(1663-1665)GAG>GGG p.E555G HDX_uc011mqv.1_Missense_Mutation_p.E555G|HDX_uc004eel.1_Missense_Mutation_p.E497G NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 555 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TTCATTGGGCTCTTCTACAGA 0.323 Pancreas(53;231 1169 36156 43751 51139) NA 16 1 0 0 0.006122 0 0 CHM 1121 broad.mit.edu 37 X 85233835 85233835 + Missense_Mutation SNP C C G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:85233835C>G uc004eet.2 - 4 280 c.250G>C c.(250-252)GAA>CAA p.E84Q CHM_uc011mqz.1_Intron|CHM_uc004eeu.3_RNA|CHM_uc004eev.3_Missense_Mutation_p.E84Q NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 84 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) GCAATGGCTTCTTCATTTTCA 0.363 NA 40 7 0 0 0.00874 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177268 89177268 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:89177268G>T uc004efe.2 + 2 233 c.184G>T c.(184-186)GTT>TTT p.V62F NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 62 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGCCGAGTCCGTTAAGATCCT 0.468 NA 44 2 1.46156e-29 2.6232e-29 0.00361 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299759 125299759 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:125299759C>A uc004euk.1 - 1 176 c.149G>T c.(148-150)AGG>ATG p.R50M NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 50 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GTGCACCAGCCTGCGACGCGT 0.726 NA 20 3 6.33239e-15 9.52158e-15 0.010504 1 0 ZNF449 203523 broad.mit.edu 37 X 134494750 134494750 + Silent SNP A A C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134494750A>C uc004eys.2 + 5 1471 c.1306A>C c.(1306-1308)AGA>CGA p.R436R ZNF449_uc004eyt.2_Silent_p.R316R|ZNF449_uc004eyu.2_Silent_p.R242R NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 436 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAAACCTCATAGATGTCATAA 0.353 NA 50 16 0 0 0.00361 0 0 DDX26B 203522 broad.mit.edu 37 X 134655006 134655006 + Missense_Mutation SNP G G T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134655006G>T uc004eyw.3 + 1 452 c.89G>T c.(88-90)GGC>GTC p.G30V NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) ATTGCCAAAGGCGCTGTGGAG 0.552 NA 64 10 1.17253e-29 2.11055e-29 0.00361 1 0 DDX26B 203522 broad.mit.edu 37 X 134709151 134709151 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:134709151G>C uc004eyw.3 + 13 2136 c.1773G>C c.(1771-1773)AAG>AAC p.K591N DDX26B_uc004eyx.3_Missense_Mutation_p.K192N NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 591 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGATAAGAAGGTAGGATACC 0.368 NA 64 13 0 0 0.00361 0 0 GPR112 139378 broad.mit.edu 37 X 135485469 135485469 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:135485469C>A uc004ezu.1 + 22 8933 c.8642C>A c.(8641-8643)CCA>CAA p.P2881Q GPR112_uc010nsb.1_Missense_Mutation_p.P2676Q NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2881 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACTCTGAGCCCAACAACTCCG 0.488 NA 8 5 0.00307968 0.00325252 0.00308 1 0 GPR112 139378 broad.mit.edu 37 X 135485479 135485479 + Silent SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:135485479G>A uc004ezu.1 + 22 8943 c.8652G>A c.(8650-8652)CCG>CCA p.P2884P GPR112_uc010nsb.1_Silent_p.P2679P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2884 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CAACAACTCCGTTGTAAGTAC 0.498 NA 7 4 0 0 0.001984 0 0 SPRY3 10251 broad.mit.edu 37 X 155003584 155003584 + Missense_Mutation SNP G G C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:155003584G>C uc004fnq.1 + 2 505 c.51G>C c.(49-51)CAG>CAC p.Q17H SPRY3_uc010nvl.1_Missense_Mutation_p.Q17H NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 17 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTATTGAACAGCTGCGCTCTA 0.483 NA 35 72 0 0 0.003271 0 0 HFM1 164045 broad.mit.edu 37 1 91841140 91841141 + Frame_Shift_Del DEL TG TG - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr1:91841140_91841141delTG uc001doa.3 - 12 1639_1640 c.1539_1540delCA c.(1537-1542)CTCAACfs p.L513fs HFM1_uc010osu.1_Frame_Shift_Del_p.L192fs|HFM1_uc010osv.1_Frame_Shift_Del_p.L197fs NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 513_514 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATTTTGTAGTTGAGGGTTAAAT 0.356 NA 22 65 --- --- --- --- NA NA NA NA NA SFTPA2 729238 broad.mit.edu 37 10 81319205 81319205 + Frame_Shift_Del DEL A A - rs72659394 TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:81319205delA uc001kal.3 - 3 132 c.35delT c.(34-36)TTGfs p.L12fs SFTPA2_uc001kan.3_Frame_Shift_Del_p.L12fs|SFTPA2_uc001kam.2_RNA NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 12 L -> W. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGCTGCCATCAAGATGAGGGT 0.647 NA Pulmonary_Fibrosis_Idiopathic 16 35 --- --- --- --- NA NA NA NA NA SFTPA1 653509 broad.mit.edu 37 10 81371615 81371615 + Frame_Shift_Del DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr10:81371615delT uc001kap.2 + 3 155 c.34delT c.(34-36)TTGfs p.L12fs SFTPA1_uc001kao.2_RNA|SFTPA1_uc001kaq.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc009xry.2_Frame_Shift_Del_p.L27fs|SFTPA1_uc001kar.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc010qlt.1_Intron|SFTPA1_uc009xrz.2_Frame_Shift_Del_p.L22fs|SFTPA1_uc009xsa.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 12 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CAACCTCATCTTGATGGCAGC 0.632 NA 23 212 --- --- --- --- NA NA NA NA NA BSX 390259 broad.mit.edu 37 11 122850161 122850161 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr11:122850161delC uc010rzs.1 - 2 267 c.267delG c.(265-267)ATGfs p.M89fs NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 89 0 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;0.0361) CTGGGACTGGCATCCCTGCAG 0.522 NA 36 18 --- --- --- --- NA NA NA NA NA HOXC4 3221 broad.mit.edu 37 12 54448073 54448073 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr12:54448073delG uc001seu.2 + 3 1047 c.367delG c.(367-369)GACfs p.D123fs HOXC4_uc001sex.2_Frame_Shift_Del_p.D123fs NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCAGCCCCCGACCATCCCTC 0.607 NA 13 3 --- --- --- --- NA NA NA NA NA DCLK1 9201 broad.mit.edu 37 13 36385037 36385037 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:36385037delG uc001uvf.2 - 12 1856 c.1623delC c.(1621-1623)GACfs p.D541fs DCLK1_uc001uve.3_Frame_Shift_Del_p.D234fs|DCLK1_uc010teh.1_Frame_Shift_Del_p.D234fs|DCLK1_uc010abk.2_Frame_Shift_Del_p.D61fs NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 541 Protein kinase. 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) ACAGGGGGCCGTCTACAATGG 0.463 NA 42 107 --- --- --- --- NA NA NA NA NA LCP1 3936 broad.mit.edu 37 13 46726995 46726995 + Frame_Shift_Del DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr13:46726995delT uc001vaz.3 - 7 785 c.659delA c.(658-660)AAGfs p.K220fs LCP1_uc001vba.3_Frame_Shift_Del_p.K220fs NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 220 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CAGATAAGGCTTCCCCTCCTT 0.502 NA T BCL6 NHL 9 32 --- --- --- --- NA NA NA NA NA AKAP6 9472 broad.mit.edu 37 14 33015489 33015489 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr14:33015489delC uc001wrq.2 + 4 1800 c.1630delC c.(1630-1632)CCAfs p.P544fs AKAP6_uc010aml.2_Frame_Shift_Del_p.P541fs NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 544 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATAGAGGGGCCACAAACAAA 0.453 Melanoma(49;821 1200 7288 13647 42351) NA 87 15 --- --- --- --- NA NA NA NA NA ARRDC4 91947 broad.mit.edu 37 15 98509171 98509172 + Frame_Shift_Del DEL TG TG - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr15:98509171_98509172delTG uc010bom.2 + 3 580_581 c.421_422delTG c.(421-423)TGTfs p.C141fs ARRDC4_uc002bui.3_Frame_Shift_Del_p.C54fs NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 141 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CATTCAGTACTGTGTGCGGGCA 0.431 NA 25 58 --- --- --- --- NA NA NA NA NA OTOA 146183 broad.mit.edu 37 16 21698946 21698947 + Frame_Shift_Del DEL GC GC - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr16:21698946_21698947delGC uc002djh.2 + 7 613_614 c.612_613delGC c.(610-615)CTGCGCfs p.L204fs uc002diq.3_Intron|OTOA_uc010vbj.1_Frame_Shift_Del_p.L125fs NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 204_205 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) CTCGGGACCTGCGCGAGGATGC 0.426 NA 11 24 --- --- --- --- NA NA NA NA NA ZFP161 7541 broad.mit.edu 37 18 5290892 5290892 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr18:5290892delC uc002kmq.2 - 4 1476 c.1315delG c.(1315-1317)GCAfs p.A439fs ZFP161_uc002kmr.2_Frame_Shift_Del_p.A439fs|ZFP161_uc010dkp.2_Frame_Shift_Del_p.A439fs NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 439 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGCTGTTCTGCTTCCGCAGCC 0.547 NA 18 82 --- --- --- --- NA NA NA NA NA GFPT1 2673 broad.mit.edu 37 2 69577211 69577211 + Frame_Shift_Del DEL T T - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:69577211delT uc002sfh.2 - 9 969 c.790delA c.(790-792)AGTfs p.S264fs GFPT1_uc002sfi.1_3'UTR NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 282 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 GAAGCTCACCTTGCATCAGAA 0.428 NA 11 9 --- --- --- --- NA NA NA NA NA DGUOK 1716 broad.mit.edu 37 2 74166144 74166145 + Frame_Shift_Ins INS - - A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:74166144_74166145insA uc002sjx.2 + 2 335_336 c.250_251insA c.(250-252)CAAfs p.Q84fs DGUOK_uc002sjy.2_Frame_Shift_Ins_p.Q84fs|DGUOK_uc002sjz.2_Intron NM_080916 NP_550438 Q16854 DGUOK_HUMAN deoxyguanosine kinase isoform a precursor 84 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor 0 TGCTGGCACCCAAAAAGTAAGT 0.416 NA 15 46 --- --- --- --- NA NA NA NA NA GPR45 11250 broad.mit.edu 37 2 105858804 105858804 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:105858804delG uc002tco.1 + 1 605 c.489delG c.(487-489)GCGfs p.A163fs NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 163 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TCTGCATCGCGGGGCCCTCGC 0.697 NA 21 11 --- --- --- --- NA NA NA NA NA FAM128A 653784 broad.mit.edu 37 2 132241761 132241761 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:132241761delC uc002tsw.3 - 3 465 c.350delG c.(349-351)GGAfs p.G117fs FAM128A_uc002tsv.3_RNA NM_001085365 NP_001078834 Q6P582 MZT2A_HUMAN hypothetical protein LOC653784 117 centrosome|gamma-tubulin ring complex|spindle 0 BRCA - Breast invasive adenocarcinoma(221;0.13) GGCCAATACTCCCCCGAGGGC 0.632 NA 13 84 --- --- --- --- NA NA NA NA NA LOC150776 150776 broad.mit.edu 37 2 132276832 132276832 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:132276832delG uc002tsz.3 + 1 540 c.93delG c.(91-93)CTGfs p.L31fs LOC150776_uc002tsy.3_RNA Homo sapiens cDNA FLJ41352 fis, clone BRAWH2014645. 0 AGAAGGCCCTGGAGTACCTGC 0.602 NA 17 26 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179497479 179497480 + Frame_Shift_Del DEL TT TT - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:179497479_179497480delTT uc010zfg.1 - 184 35773_35774 c.35549_35550delAA c.(35548-35550)AAAfs p.K11850fs TTN_uc010zfh.1_Frame_Shift_Del_p.K5545fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K5478fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K5353fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12777 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) TCTCGAAGACTTTAACATCACT 0.426 NA 32 91 --- --- --- --- NA NA NA NA NA AGAP1 116987 broad.mit.edu 37 2 236649676 236649677 + Frame_Shift_Ins INS - - C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr2:236649676_236649677insC uc002vvs.2 + 4 975_976 c.380_381insC c.(379-381)GGCfs p.G127fs AGAP1_uc002vvt.2_Frame_Shift_Ins_p.G127fs NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 127 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 GATGAAGGGGGCCCCCCGGAGG 0.49 NA 16 27 --- --- --- --- NA NA NA NA NA ZNF280B 140883 broad.mit.edu 37 22 22843330 22843330 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr22:22843330delG uc002zwc.1 - 4 1170 c.394delC c.(394-396)CAAfs p.Q132fs LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GGCACAACTTGTGGTGAACTA 0.388 NA 39 131 --- --- --- --- NA NA NA NA NA SCN5A 6331 broad.mit.edu 37 3 38592373 38592373 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:38592373delG uc003cio.2 - 28 5684 c.5490delC c.(5488-5490)CCCfs p.P1830fs SCN5A_uc003cin.2_Frame_Shift_Del_p.P1829fs|SCN5A_uc003cil.3_Frame_Shift_Del_p.P1830fs|SCN5A_uc010hhi.2_Frame_Shift_Del_p.P1812fs|SCN5A_uc010hhk.2_Frame_Shift_Del_p.P1797fs|SCN5A_uc011ayr.1_Frame_Shift_Del_p.P1776fs NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1830 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTATCTGGTTGGGCTTGGCGA 0.537 NA 35 54 --- --- --- --- NA NA NA NA NA IGF2BP2 10644 broad.mit.edu 37 3 185390353 185390353 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr3:185390353delG uc003fpo.2 - 10 1255 c.1176delC c.(1174-1176)CCCfs p.P392fs IGF2BP2_uc010hyi.2_Frame_Shift_Del_p.P335fs|IGF2BP2_uc010hyj.2_Frame_Shift_Del_p.P329fs|IGF2BP2_uc010hyk.2_Frame_Shift_Del_p.P256fs|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Frame_Shift_Del_p.P397fs NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 392 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) AGGGGGCAGCGGGGGGAGCTC 0.597 NA 5 8 --- --- --- --- NA NA NA NA NA PGK2 5232 broad.mit.edu 37 6 49754088 49754088 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr6:49754088delG uc003ozu.2 - 1 920 c.813delC c.(811-813)GCCfs p.A271fs NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 271 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TTTGTGCTTTGGCCATGATAT 0.428 NA 25 114 --- --- --- --- NA NA NA NA NA CALD1 800 broad.mit.edu 37 7 134644834 134644834 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:134644834delC uc003vrz.2 + 12 2630 c.2171delC c.(2170-2172)TCCfs p.S724fs CALD1_uc003vry.2_Frame_Shift_Del_p.S469fs|CALD1_uc003vsa.2_Frame_Shift_Del_p.S495fs|CALD1_uc003vsb.2_Frame_Shift_Del_p.S469fs|CALD1_uc010lmm.2_Frame_Shift_Del_p.S494fs|CALD1_uc011kpt.1_Frame_Shift_Del_p.S243fs|CALD1_uc003vsc.2_Frame_Shift_Del_p.S489fs|CALD1_uc003vsd.2_Frame_Shift_Del_p.S463fs|CALD1_uc011kpu.1_Frame_Shift_Del_p.S474fs|CALD1_uc011kpv.1_Frame_Shift_Del_p.S333fs|CALD1_uc003vse.2_Frame_Shift_Del_p.S587fs|CALD1_uc010lmn.2_RNA NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 724 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 GTGTTTTCATCCCCCACTGCA 0.453 NA 40 32 --- --- --- --- NA NA NA NA NA ZC3HAV1 56829 broad.mit.edu 37 7 138764850 138764850 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr7:138764850delG uc003vun.2 - 4 1225 c.837delC c.(835-837)ATCfs p.I279fs ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Frame_Shift_Del_p.I279fs NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 279 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 CCCTGTGGCTGATCTGATCTG 0.582 NA 40 123 --- --- --- --- NA NA NA NA NA NAT1 9 broad.mit.edu 37 8 18079724 18079725 + Frame_Shift_Ins INS - - G TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:18079724_18079725insG uc010ltd.2 + 5 535_536 c.168_169insG c.(166-171)TTTGATfs p.F56fs NAT1_uc003wyt.2_Frame_Shift_Ins_p.F118fs|NAT1_uc003wyu.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wyv.2_Frame_Shift_Ins_p.F56fs|NAT1_uc010ltc.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wys.2_Frame_Shift_Ins_p.F118fs|NAT1_uc003wyr.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wyq.2_Frame_Shift_Ins_p.F56fs|NAT1_uc011kyl.1_Frame_Shift_Ins_p.F56fs NM_001160179 NP_001153651 P18440 ARY1_HUMAN N-acetyltransferase 1 isoform a 56_57 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity 0 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) AGGCCATTTTTGATCAAGTTGT 0.465 NA 44 64 --- --- --- --- NA NA NA NA NA RIMS2 9699 broad.mit.edu 37 8 104897708 104897708 + Frame_Shift_Del DEL G G - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:104897708delG uc003yls.2 + 2 456 c.215delG c.(214-216)AGGfs p.R72fs RIMS2_uc003ylp.2_Frame_Shift_Del_p.R294fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.R102fs|RIMS2_uc003ylq.2_Frame_Shift_Del_p.R102fs|RIMS2_uc003ylr.2_Frame_Shift_Del_p.R102fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 325 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) TTAAGTTATAGGGACTCCAAC 0.408 NA HNSCC(12;0.0054) 36 86 --- --- --- --- NA NA NA NA NA ATAD2 29028 broad.mit.edu 37 8 124408447 124408447 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr8:124408447delC uc003yqh.3 - 1 259 c.151delG c.(151-153)GCGfs p.A51fs ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Frame_Shift_Del_p.A51fs NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCTGTGGTCGCCGCGGGTTTC 0.746 NA 15 6 --- --- --- --- NA NA NA NA NA CDC37L1 55664 broad.mit.edu 37 9 4706108 4706109 + Frame_Shift_Del DEL TA TA - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chr9:4706108_4706109delTA uc003zio.2 + 7 1220_1221 c.1010_1011delTA c.(1009-1011)GTAfs p.V337fs NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 337 Required for interaction with STIP1.|Interaction with Hsp70. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) ATGGACACTGTATAATTTGGTT 0.376 NA 67 17 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47038768 47038768 + Frame_Shift_Del DEL C C - TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c209d392-7d3a-481c-8cc7-398a6b90290a aac91e18-9d58-4f9a-83db-0159e65c37c6 g.chrX:47038768delC uc004dhf.2 + 9 1154 c.775delC c.(775-777)CCAfs p.P259fs RBM10_uc004dhg.2_Frame_Shift_Del_p.P182fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.P259fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.P182fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.P324fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 259 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 GCAGACACTGCCACTGGGTGG 0.677 Melanoma(171;120 2705 19495 39241) NA 7 3 --- --- --- --- NA NA NA NA NA