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 MTOR 2475 broad.mit.edu 37 1 11300433 11300433 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:11300433C>A uc001asd.2 - 11 1834 c.1713G>T c.(1711-1713)ACG>ACT p.T571T NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 571 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CAGGGAGGGTCGTGAGGCCAG 0.577 NA 20 37 2.94398e-08 4.7036e-08 0.007413 1 0 UBIAD1 29914 broad.mit.edu 37 1 11333865 11333865 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:11333865G>T uc001asg.2 + 1 611 c.277G>T c.(277-279)GCT>TCT p.A93S NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 93 Helical; (Potential). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GGCTGTCCTGGCTGTGCACGG 0.562 NA 42 56 3.54909e-21 7.18432e-21 0.002852 1 0 IGSF21 84966 broad.mit.edu 37 1 18703331 18703331 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:18703331G>T uc001bau.1 + 8 1522 c.1139G>T c.(1138-1140)CGG>CTG p.R380L IGSF21_uc001bav.1_Missense_Mutation_p.R201L NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 380 Ig-like 2. extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACGTGGACGCGGGTTGGGAGC 0.642 NA 17 14 6.94344e-10 1.19153e-09 0.006122 1 0 TAS1R2 80834 broad.mit.edu 37 1 19180775 19180775 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:19180775G>T uc001bba.1 - 3 1190 c.1189C>A c.(1189-1191)CAT>AAT p.H397N NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 397 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGCAGGGCATGGGCCACAGCA 0.607 NA 10 18 3.07112e-06 4.64006e-06 0.000978 1 0 ZBTB40 9923 broad.mit.edu 37 1 22839540 22839540 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:22839540G>A uc001bft.2 + 13 3096 c.2585G>A c.(2584-2586)CGC>CAC p.R862H ZBTB40_uc001bfu.2_Missense_Mutation_p.R862H|ZBTB40_uc009vqi.1_Missense_Mutation_p.R750H NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 862 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ACCGGGGACCGCCCGTTCATG 0.577 NA 6 25 0 0 0.001168 0 0 NFYC 4802 broad.mit.edu 37 1 41232320 41232320 + Nonsense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:41232320C>G uc001cge.2 + 7 781 c.773C>G c.(772-774)TCA>TGA p.S258* NFYC_uc010ojm.1_Nonsense_Mutation_p.S164*|NFYC_uc001cfx.3_Nonsense_Mutation_p.S258*|NFYC_uc009vwd.2_Nonsense_Mutation_p.S258*|NFYC_uc001cfz.2_Nonsense_Mutation_p.S258*|NFYC_uc010ojn.1_Nonsense_Mutation_p.S220*|NFYC_uc001cfy.3_Nonsense_Mutation_p.S258*|NFYC_uc001cgc.2_Nonsense_Mutation_p.S224*|NFYC_uc001cgb.2_Nonsense_Mutation_p.S258*|NFYC_uc001cgd.3_Nonsense_Mutation_p.S258* NM_001142588 NP_001136060 Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma isoform 1 258 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|kidney(1) 3 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) CAGCCTGTATCAGGCACTCAA 0.537 NA 7 29 0 0 0.006214 0 0 CYP4X1 260293 broad.mit.edu 37 1 47489498 47489498 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:47489498C>G uc001cqt.2 + 1 259 c.9C>G c.(7-9)TTC>TTG p.F3L CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 3 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 CCATGGAATTCTCCTGGCTGG 0.697 NA 3 29 0 0 0.000248 0 0 PTGER3 5733 broad.mit.edu 37 1 71512943 71512943 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:71512943G>A uc001dfg.1 - 1 549 c.318C>T c.(316-318)ACC>ACT p.T106T PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.T106T|PTGER3_uc001dfl.1_Silent_p.T106T|PTGER3_uc009wbm.1_Silent_p.T106T|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.T106T|PTGER3_uc009wbn.1_Silent_p.T106T|PTGER3_uc009wbo.2_Silent_p.T106T|PTGER3_uc001dfo.2_Silent_p.T106T|PTGER3_uc001dfp.1_Silent_p.T106T|PTGER3_uc001dfq.2_Silent_p.T106T|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 106 Helical; Name=2; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) CGACCGGGGTGGTGAGAAGCT 0.642 NA 3 5 0 0 0.004672 0 0 GPSM2 29899 broad.mit.edu 37 1 109441561 109441561 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:109441561C>T uc010ovc.1 + 7 1238 c.742C>T c.(742-744)CTT>TTT p.L248F AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.L248F|GPSM2_uc010ove.1_Missense_Mutation_p.L248F NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 248 TPR 6. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) ATATAGCAACCTTGGAAATGC 0.299 NA 15 19 0 0 0.00245 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 6 120 0 0 0.001168 0 0 CRNN 49860 broad.mit.edu 37 1 152383274 152383274 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:152383274C>T uc001ezx.2 - 3 358 c.284G>A c.(283-285)GGA>GAA p.G95E NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 95 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGCAGGCTCCCTCAGCACT 0.562 NA 16 314 0 0 0.006122 0 0 KPRP 448834 broad.mit.edu 37 1 152732360 152732360 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:152732360C>A uc001fal.1 + 2 354 c.296C>A c.(295-297)GCA>GAA p.A99E NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 99 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCAGGCTGCATCCCAATCT 0.542 NA 74 245 9.53419e-23 1.9585e-22 0.00361 1 0 NUP210L 91181 broad.mit.edu 37 1 153974346 153974346 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:153974346C>A uc001fdw.2 - 36 5118 c.5046G>T c.(5044-5046)AAG>AAT p.K1682N NUP210L_uc009woq.2_Missense_Mutation_p.K591N|NUP210L_uc010peh.1_Intron NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1682 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCATTCCATTCTTGCTACGTT 0.478 NA 73 81 2.23852e-25 4.71447e-25 0.00361 1 0 C1orf43 25912 broad.mit.edu 37 1 154192836 154192836 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:154192836C>T uc001fei.2 - 1 438 c.48G>A c.(46-48)GTG>GTA p.V16V C1orf43_uc001feg.2_Silent_p.V16V|C1orf43_uc001feh.2_Silent_p.V16V|C1orf43_uc001fej.2_Silent_p.V16V|C1orf43_uc009wos.1_Silent_p.V16V|C1orf43_uc001fek.2_Silent_p.V16V|C1orf43_uc001fel.2_Silent_p.V16V|UBAP2L_uc009wot.2_Intron|UBAP2L_uc010pek.1_5'Flank|UBAP2L_uc001fep.3_5'Flank|UBAP2L_uc010pel.1_5'Flank|UBAP2L_uc001fen.1_5'Flank|UBAP2L_uc010pem.1_5'Flank NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 16 Helical; (Potential). integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) CGTAGGCCATCACCAGCACGA 0.602 NA 33 137 0 0 0.002836 0 0 UBAP2L 9898 broad.mit.edu 37 1 154233427 154233427 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:154233427G>T uc001fep.3 + 23 2805 c.2638G>T c.(2638-2640)GCC>TCC p.A880S UBAP2L_uc009wot.2_Missense_Mutation_p.A880S|UBAP2L_uc010pek.1_Missense_Mutation_p.A872S|UBAP2L_uc010pel.1_Missense_Mutation_p.A890S|UBAP2L_uc010pen.1_Missense_Mutation_p.A794S|UBAP2L_uc001feq.2_Missense_Mutation_p.A76S|UBAP2L_uc001fer.2_Missense_Mutation_p.A76S NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 880 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CACAACCTTGGCCCAACCCCA 0.597 NA 22 83 3.28513e-13 5.95608e-13 0.003954 1 0 OR6Y1 391112 broad.mit.edu 37 1 158516940 158516940 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:158516940C>A uc010pil.1 - 1 956 c.956G>T c.(955-957)GGA>GTA p.G319V NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 319 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGCCCCATTTCCCTGGGGCCC 0.448 NA 23 89 2.89027e-11 5.12869e-11 0.002299 1 0 DCAF8 50717 broad.mit.edu 37 1 160249886 160249886 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:160249886C>G uc010pjc.1 - 4 576 c.304G>C c.(304-306)GAG>CAG p.E102Q PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.E249Q|PEX19_uc001fvt.2_Missense_Mutation_p.E159Q NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 Error:Variant_position_missing_in_Q5TAQ9_after_alignment CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 AGCACCATCTCAAAACGAGCC 0.493 NA 8 277 0 0 0.00308 0 0 TNN 63923 broad.mit.edu 37 1 175086284 175086284 + Missense_Mutation SNP G G T rs147066934 TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:175086284G>T uc001gkl.1 + 10 2442 c.2329G>T c.(2329-2331)GTG>TTG p.V777L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 777 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CACGGTGCACGTGTGGGCCCA 0.592 NA 21 88 2.4624e-09 4.15716e-09 0.008871 1 0 CEP350 9857 broad.mit.edu 37 1 180000550 180000550 + Missense_Mutation SNP A A C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:180000550A>C uc001gnt.2 + 15 4029 c.3646A>C c.(3646-3648)AGC>CGC p.S1216R CEP350_uc009wxl.2_Missense_Mutation_p.S1215R|CEP350_uc001gnu.2_Missense_Mutation_p.S1049R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1216 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 TGGGACCAGCAGCAAACTTTC 0.398 NA 6 28 0 0 0.001168 0 0 CACNA1E 777 broad.mit.edu 37 1 181721322 181721322 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:181721322G>T uc001gow.2 + 27 3940 c.3775G>T c.(3775-3777)GTG>TTG p.V1259L CACNA1E_uc009wxs.2_Missense_Mutation_p.V1147L|CACNA1E_uc001gox.1_Missense_Mutation_p.V485L|CACNA1E_uc009wxt.2_Missense_Mutation_p.V485L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1259 III.|Helical; Name=S4 of repeat III. 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 GTCTCTGCGGGTGCTCCGAGT 0.498 NA 22 87 9.80776e-20 1.94754e-19 0.00632 1 0 LAMC2 3918 broad.mit.edu 37 1 183212376 183212376 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:183212376G>T uc001gqa.2 + 23 3737 c.3423G>T c.(3421-3423)ATG>ATT p.M1141I NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 1141 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TGCGGCCCATGATGTCAGAGC 0.537 NA 56 60 5.99346e-17 1.15174e-16 0.00361 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213414361 213414361 + Silent SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:213414361A>G uc010ptr.1 + 11 1701 c.1542A>G c.(1540-1542)ACA>ACG p.T514T RPS6KC1_uc001hkd.2_Silent_p.T502T|RPS6KC1_uc010pts.1_Silent_p.T302T|RPS6KC1_uc010ptt.1_Silent_p.T302T|RPS6KC1_uc010ptu.1_Silent_p.T333T|RPS6KC1_uc010ptv.1_Silent_p.T49T|RPS6KC1_uc001hke.2_Silent_p.T333T NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 514 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GTTATTTAACATTATGCAATG 0.398 NA 23 28 0 0 0.003954 0 0 USH2A 7399 broad.mit.edu 37 1 215987179 215987179 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:215987179G>T uc001hku.1 - 49 10025 c.9638C>A c.(9637-9639)CCG>CAG p.P3213Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3213 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGAACAAACGGGATATACTT 0.418 NA HNSCC(13;0.011) 27 62 1.33986e-20 2.68617e-20 0.004656 1 0 USH2A 7399 broad.mit.edu 37 1 216373289 216373289 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:216373289G>T uc001hku.1 - 17 3878 c.3491C>A c.(3490-3492)TCT>TAT p.S1164Y USH2A_uc001hkv.2_Missense_Mutation_p.S1164Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1164 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGTGTCACAGAGTCTGAGCC 0.448 NA HNSCC(13;0.011) 102 50 2.07245e-51 4.828e-51 0.00361 1 0 DISP1 84976 broad.mit.edu 37 1 223178606 223178606 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:223178606G>T uc001hnu.1 + 8 4014 c.3867G>T c.(3865-3867)CAG>CAT p.Q1289H NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1289 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CTTGCCAGCAGATGGGGGACT 0.532 NA 63 173 4.09106e-26 8.74858e-26 0.00361 1 0 HEATR1 55127 broad.mit.edu 37 1 236751262 236751262 + Missense_Mutation SNP T T C rs149485004 byFrequency TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:236751262T>C uc001hyd.1 - 13 1737 c.1612A>G c.(1612-1614)ATA>GTA p.I538V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 538 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AAAGCACTTATAGCCGACAAA 0.348 NA 37 18 0 0 0.005524 0 0 ZP4 57829 broad.mit.edu 37 1 238048735 238048735 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:238048735G>T uc001hym.2 - 8 1116 c.1116C>A c.(1114-1116)AGC>AGA p.S372R LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 372 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGGGGTCAGTGCTGGGTGTTG 0.532 NSCLC(166;160 2029 11600 18754 19936) NA 23 69 1.22574e-08 1.99661e-08 0.002299 1 0 EXO1 9156 broad.mit.edu 37 1 242013757 242013757 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:242013757C>G uc001hzh.2 + 4 570 c.30C>G c.(28-30)ATC>ATG p.I10M EXO1_uc001hzi.2_Missense_Mutation_p.I10M|EXO1_uc001hzj.2_Missense_Mutation_p.I10M|EXO1_uc009xgq.2_Missense_Mutation_p.I10M NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 10 N-domain. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TACAATTTATCAAAGAAGCTT 0.388 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 5 86 0 0 0.001168 0 0 OR2G6 391211 broad.mit.edu 37 1 248685673 248685673 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:248685673G>T uc001ien.1 + 1 726 c.726G>T c.(724-726)TCG>TCT p.S242S NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACCTGTTCGTCTCACCTGG 0.463 NA 28 103 1.39806e-14 2.63796e-14 0.008361 1 0 WDR37 22884 broad.mit.edu 37 10 1130413 1130413 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:1130413G>T uc001igf.1 + 6 640 c.467G>T c.(466-468)CGG>CTG p.R156L WDR37_uc001ige.2_Missense_Mutation_p.R156L|WDR37_uc009xhm.1_Missense_Mutation_p.R156L|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN WD repeat domain 37 156 WD 1. 0 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) ATCGGCCACCGGGACGGCATC 0.597 NA 19 30 5.03518e-11 8.85937e-11 0.007413 1 0 ITGA8 8516 broad.mit.edu 37 10 15760819 15760819 + Missense_Mutation SNP G G T rs35729957 TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:15760819G>T uc001ioc.1 - 2 289 c.289C>A c.(289-291)CCT>ACT p.P97T ITGA8_uc010qcb.1_Missense_Mutation_p.P97T NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 97 Extracellular (Potential).|FG-GAP 1. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.P97T(1) ovary(3)|lung(3) 6 GCGGGCCAAGGACAGTAATAG 0.572 NA 28 45 3.80469e-20 7.59118e-20 0.001786 1 0 PLXDC2 84898 broad.mit.edu 37 10 20436785 20436785 + Missense_Mutation SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:20436785A>G uc001iqg.1 + 6 1374 c.737A>G c.(736-738)CAG>CGG p.Q246R PLXDC2_uc001iqh.1_Missense_Mutation_p.Q197R|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 246 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TTCACATTCCAGGCAACCCTG 0.438 NA 3 36 0 0 0.004672 0 0 PLXDC2 84898 broad.mit.edu 37 10 20508007 20508007 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:20508007G>A uc001iqg.1 + 12 1925 c.1288G>A c.(1288-1290)GCA>ACA p.A430T PLXDC2_uc001iqh.1_Missense_Mutation_p.A381T|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 430 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TACCAAGATAGCACTACATCT 0.284 NA 5 12 0 0 0.000602 0 0 FZD8 8325 broad.mit.edu 37 10 35930182 35930182 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:35930182T>A uc001iyz.1 - 1 181 c.176A>T c.(175-177)CAC>CTC p.H59L NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 59 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 TTGCGTGTCGTGGTTGAACTG 0.607 NA 12 19 0 0 0.001368 0 0 C10orf71 118461 broad.mit.edu 37 10 50530874 50530874 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:50530874G>T uc010qgp.1 + 3 623 c.284G>T c.(283-285)TGG>TTG p.W95L NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 95 0 CATTCGGGCTGGGCGGCCACC 0.577 NA 30 41 1.45844e-13 2.6674e-13 0.002836 1 0 BICC1 80114 broad.mit.edu 37 10 60546724 60546724 + Silent SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:60546724A>G uc001jki.1 + 5 429 c.429A>G c.(427-429)GAA>GAG p.E143E NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 143 KH 1. multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 CACATACAGAACATTCACATG 0.368 NA 8 24 0 0 0.00308 0 0 FAM13C 220965 broad.mit.edu 37 10 61043179 61043179 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:61043179T>A uc001jkn.2 - 7 670 c.536A>T c.(535-537)AAG>ATG p.K179M FAM13C_uc001jko.2_Missense_Mutation_p.K179M|FAM13C_uc010qid.1_Missense_Mutation_p.K96M|FAM13C_uc010qie.1_Missense_Mutation_p.K96M|FAM13C_uc010qif.1_Missense_Mutation_p.K201M|FAM13C_uc001jkp.2_Missense_Mutation_p.K96M NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 179 ovary(2) 2 CGCCGGGTCCTTGACTCCATG 0.532 NA 56 69 0 0 0.00361 0 0 COL17A1 1308 broad.mit.edu 37 10 105792028 105792028 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:105792028G>T uc001kxr.2 - 56 4628 c.4459C>A c.(4459-4461)CGG>AGG p.R1487R COL17A1_uc001kxq.2_RNA NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1487 Extracellular (Potential).|Nonhelical region (NC1). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTCCTTCTCCGCCCAGCATAG 0.498 NA 15 18 7.93312e-07 1.21622e-06 0.00245 1 0 SORCS3 22986 broad.mit.edu 37 10 107016584 107016584 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:107016584G>C uc001kyi.1 + 25 3572 c.3345G>C c.(3343-3345)TTG>TTC p.L1115F NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1115 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAGCTCCATTGGTGGACTCCA 0.458 NSCLC(116;1497 1690 7108 13108 14106) NA 13 16 0 0 0.001368 0 0 EMX2 2018 broad.mit.edu 37 10 119305203 119305203 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:119305203G>A uc001ldh.3 + 2 1290 c.467G>A c.(466-468)CGG>CAG p.R156Q EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron NM_004098 NP_004089 Q04743 EMX2_HUMAN empty spiracles homeobox 2 isoform 1 156 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) AAGCCCAAGCGGATCCGAACC 0.607 NA 4 29 0 0 0.000602 0 0 RGS10 6001 broad.mit.edu 37 10 121285608 121285608 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr10:121285608C>G uc001lee.2 - 2 167 c.167G>C c.(166-168)AGT>ACT p.S56T RGS10_uc001lef.2_Missense_Mutation_p.S50T|RGS10_uc001leg.2_Missense_Mutation_p.S64T NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 56 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) ATTTTCTTCACTGAATTCCTT 0.299 NA 16 35 0 0 0.00499 0 0 OR52R1 119695 broad.mit.edu 37 11 4825267 4825267 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:4825267G>T uc010qym.1 - 1 581 c.581C>A c.(580-582)TCT>TAT p.S194Y NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGCACCCCAGACTCCACAGA 0.527 NA 38 40 7.61001e-30 1.6702e-29 0.005524 1 0 TRIM22 10346 broad.mit.edu 37 11 5730492 5730492 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:5730492G>T uc001mbr.2 + 8 1388 c.1111G>T c.(1111-1113)GTA>TTA p.V371L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.V367L|TRIM22_uc010qzm.1_Missense_Mutation_p.V199L|TRIM22_uc009yeu.2_Missense_Mutation_p.V182L|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 371 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GATCCTGGGCGTACACAGTAA 0.393 GBM(104;491 2336 5222) NA 24 32 1.64293e-13 2.99172e-13 0.00333 1 0 OR52E4 390081 broad.mit.edu 37 11 5905530 5905530 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:5905530C>A uc010qzs.1 + 1 8 c.8C>A c.(7-9)TCT>TAT p.S3Y TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAATGCCTTCTATCAATGAC 0.428 NA 44 70 8.86878e-18 1.72817e-17 0.00361 1 0 INSC 387755 broad.mit.edu 37 11 15222462 15222462 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:15222462C>T uc001mly.2 + 7 973 c.927C>T c.(925-927)TGC>TGT p.C309C INSC_uc001mlz.2_Silent_p.C262C|INSC_uc001mma.2_Silent_p.C262C|INSC_uc010rcs.1_Silent_p.C297C|INSC_uc001mmb.2_Silent_p.C262C|INSC_uc001mmc.2_Intron NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 309 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CCTCCATCTGCTGCGTGGAAG 0.632 NA 4 2 0 0 0.000248 0 0 INSC 387755 broad.mit.edu 37 11 15260597 15260597 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:15260597C>G uc001mly.2 + 11 1557 c.1511C>G c.(1510-1512)GCA>GGA p.A504G INSC_uc001mlz.2_Missense_Mutation_p.A457G|INSC_uc001mma.2_Missense_Mutation_p.A457G|INSC_uc010rcs.1_Missense_Mutation_p.A492G|INSC_uc001mmb.2_Missense_Mutation_p.A457G|INSC_uc001mmc.2_Missense_Mutation_p.A415G NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 504 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CCAGATGTGGCACGGGAGGCC 0.617 NA 13 20 0 0 0.001368 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399051 22399051 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:22399051G>T uc001mqk.2 + 12 1927 c.1514G>T c.(1513-1515)TGG>TTG p.W505L NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 505 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 AAACAACCCTGGGCAGACCCG 0.403 NA 9 17 7.48243e-07 1.15136e-06 0.006214 1 0 EXT2 2132 broad.mit.edu 37 11 44254029 44254029 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:44254029G>A uc001mxz.2 + 11 2123 c.1789G>A c.(1789-1791)GCA>ACA p.A597T EXT2_uc010rfo.1_Missense_Mutation_p.A625T|EXT2_uc001mxy.2_Missense_Mutation_p.A610T|EXT2_uc009ykt.2_Missense_Mutation_p.A607T|EXT2_uc001mya.2_Missense_Mutation_p.A630T NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 597 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GCTCACTGGGGCAGCTTTTTA 0.463 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 12 18 0 0 0.001368 0 0 MS4A13 503497 broad.mit.edu 37 11 60296836 60296836 + Splice_Site SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:60296836A>G uc001nps.2 + 6 630 c.307_splice c.e6-2 p.K103_splice MS4A13_uc009ync.2_Splice_Site_p.K63_splice|MS4A13_uc009ynd.2_Splice_Site_p.K44_splice NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member integral to membrane 0 TTTTGGTTATAGAAACTTGGG 0.343 NA 11 23 0 0 0.000978 0 0 DAGLA 747 broad.mit.edu 37 11 61495745 61495745 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:61495745G>A uc001nsa.2 + 7 868 c.757G>A c.(757-759)GCC>ACC p.A253T NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 253 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CAAGCGCAACGCCGTGCTGGA 0.647 NA 24 51 0 0 0.005443 0 0 ODZ4 26011 broad.mit.edu 37 11 78440614 78440614 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:78440614G>A uc001ozl.3 - 22 3676 c.3213C>T c.(3211-3213)TAC>TAT p.Y1071Y NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1071 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGACAGATTTGTAGCCAGGGG 0.567 NA 22 25 0 0 0.001882 0 0 RAB30 27314 broad.mit.edu 37 11 82693351 82693351 + Silent SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:82693351A>G uc001ozu.2 - 6 729 c.468T>C c.(466-468)TCT>TCC p.S156S RAB30_uc009yve.2_Silent_p.S154S|RAB30_uc010rst.1_Silent_p.S154S|RAB30_uc001ozv.2_Missense_Mutation_p.L153P NM_014488 NP_055303 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 156 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity 0 CCACATTATCAGATTCCTTGG 0.473 NA 3 57 0 0 0.000248 0 0 MMP13 4322 broad.mit.edu 37 11 102815025 102815025 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:102815025G>T uc001phl.2 - 10 1414 c.1386C>A c.(1384-1386)GTC>GTA p.V462V NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 462 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.V462I(1) ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTGCTGGCATGACGCGAACAA 0.358 NA 56 85 4.73848e-44 1.08568e-43 0.00361 1 0 DDI1 414301 broad.mit.edu 37 11 103907842 103907842 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:103907842G>A uc001phr.2 + 1 535 c.292G>A c.(292-294)GGC>AGC p.G98S PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 98 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AGACTTCAGTGGCATTGCGGT 0.642 NA 43 54 0 0 0.002222 0 0 CEP164 22897 broad.mit.edu 37 11 117253620 117253620 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:117253620G>T uc001prc.2 + 14 1833 c.1686G>T c.(1684-1686)AAG>AAT p.K562N CEP164_uc001prb.2_Missense_Mutation_p.K565N|CEP164_uc010rxk.1_Missense_Mutation_p.K536N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 562 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CTGAGGAGAAGGTGGCGGTCA 0.642 NA 13 14 5.50884e-06 8.26326e-06 0.001368 1 0 DSCAML1 57453 broad.mit.edu 37 11 117387188 117387188 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:117387188C>A uc001prh.1 - 8 1959 c.1957G>T c.(1957-1959)GTC>TTC p.V653F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 593 Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTACCTTTGACGGCTACGTGA 0.617 NA 9 19 6.40141e-05 9.33353e-05 0.000978 1 0 FOXR1 283150 broad.mit.edu 37 11 118851416 118851416 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:118851416C>A uc001pui.2 + 5 1053 c.828C>A c.(826-828)ATC>ATA p.I276I FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Silent_p.I107I NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 276 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TAGAAAGTATCCAACAGTGCA 0.612 NA 14 14 1.5842e-08 2.56051e-08 0.001855 1 0 SPA17 53340 broad.mit.edu 37 11 124564341 124564341 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:124564341G>A uc001qap.2 + 5 591 c.455G>A c.(454-456)TGA>TAA p.*152* NM_017425 NP_059121 Q15506 SP17_HUMAN sperm autoantigenic protein 17 152 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) GAAAACAAGTGAGGACACTGG 0.388 NA 13 60 0 0 0.001368 0 0 OVCH1 341350 broad.mit.edu 37 12 29648354 29648354 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr12:29648354C>A uc001rix.1 - 4 318 c.318G>T c.(316-318)GAG>GAT p.E106D NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 106 Peptidase S1 1. 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) AGAGGCTGTACTCCCCAGAAG 0.378 NA 19 32 2.94398e-08 4.7036e-08 0.007413 1 0 ALX1 8092 broad.mit.edu 37 12 85677598 85677598 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr12:85677598G>T uc001tae.3 + 2 479 c.475G>T c.(475-477)GTG>TTG p.V159L NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 159 Homeobox. brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TTACCCGGATGTGTATGTCAG 0.493 NA 32 48 1.30293e-26 2.81515e-26 0.003271 1 0 POLR3B 55703 broad.mit.edu 37 12 106772119 106772119 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr12:106772119G>A uc001tlp.2 + 8 793 c.571G>A c.(571-573)GTG>ATG p.V191M POLR3B_uc001tlq.2_Missense_Mutation_p.V133M NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 191 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CAGGATCATCGTGGAGGCTGA 0.408 NA 7 93 0 0 0.001984 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138920 126138920 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr12:126138920G>C uc001uhe.1 + 9 2909 c.2901G>C c.(2899-2901)GAG>GAC p.E967D TMEM132B_uc001uhf.1_Missense_Mutation_p.E479D NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 967 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) CATCAGAGGAGTGCACAACCA 0.512 NA 16 19 0 0 0.004007 0 0 ELF1 1997 broad.mit.edu 37 13 41525519 41525519 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr13:41525519C>T uc001uxs.2 - 4 680 c.307G>A c.(307-309)GAG>AAG p.E103K ELF1_uc010tfc.1_Missense_Mutation_p.E103K|ELF1_uc010acd.2_5'UTR NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 103 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) AGGAGTGCCTCAGCAGCCTCA 0.368 NA 8 66 0 0 0.008291 0 0 MLNR 2862 broad.mit.edu 37 13 49795193 49795193 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr13:49795193G>A uc010tgj.1 + 1 720 c.720G>A c.(718-720)GCG>GCA p.A240A NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 240 Extracellular (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CGAGCCCCGCGCAGCTGGGCG 0.731 NA 14 28 0 0 0.003163 0 0 DIS3 22894 broad.mit.edu 37 13 73345120 73345120 + Silent SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr13:73345120T>C uc001vix.3 - 13 2051 c.1677A>G c.(1675-1677)GCA>GCG p.A559A DIS3_uc001viy.3_Silent_p.A529A|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 559 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TACATGAAAATGCCAGCCTGT 0.318 NA Multiple Myeloma(4;0.011) 4 6 0 0 0.000248 0 0 TPP2 7174 broad.mit.edu 37 13 103292686 103292686 + Silent SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr13:103292686A>T uc001vpi.3 + 16 2083 c.1980A>T c.(1978-1980)CGA>CGT p.R660R NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 660 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTCAAATTCGAAGGCATTTTA 0.323 NA 6 12 0 0 0.004482 0 0 SOX1 6656 broad.mit.edu 37 13 112722025 112722025 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr13:112722025C>A uc001vsb.1 + 1 113 c.53C>A c.(52-54)GCC>GAC p.A18D NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 18 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) GGCGCCCAGGCCCCCACGAAC 0.567 NA 5 4 1.23904e-05 1.84528e-05 0.000602 1 0 METT11D1 64745 broad.mit.edu 37 14 21461276 21461276 + Splice_Site SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:21461276G>A uc001vyn.2 + 6 726 c.529_splice c.e6-1 p.I177_splice METT11D1_uc001vym.2_Splice_Site_p.I177_splice|METT11D1_uc001vyo.2_Splice_Site_p.I177_splice|METT11D1_uc001vyp.2_Splice_Site_p.I19_splice|METT11D1_uc001vyq.2_Splice_Site_p.I19_splice NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) TATTTCTTCAGATCCGGGCTC 0.423 NA 49 66 0 0 0.00361 0 0 MYH7 4625 broad.mit.edu 37 14 23886369 23886369 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:23886369G>T uc001wjx.2 - 32 4618 c.4512C>A c.(4510-4512)AAC>AAA p.N1504K NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1504 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CACCCTGCAGGTTTTTGTTCT 0.592 NA 62 84 2.94687e-45 6.78921e-45 0.00361 1 0 FAM179B 23116 broad.mit.edu 37 14 45501514 45501514 + Silent SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:45501514A>G uc001wvv.2 + 11 3956 c.3747A>G c.(3745-3747)CTA>CTG p.L1249L FAM179B_uc001wvw.2_Silent_p.L1249L|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1249 binding skin(2)|upper_aerodigestive_tract(1) 3 TGTCAGAACTACGACCATTCT 0.363 NA 9 12 0 0 0.006214 0 0 GPHB5 122876 broad.mit.edu 37 14 63784522 63784522 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:63784522G>A uc010apu.2 - 1 42 c.42C>T c.(40-42)CTC>CTT p.L14L GPHB5_uc001xgc.2_Silent_p.L4L NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 14 extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CAGCCAGAAGGAGGAGGGCCA 0.577 NA 17 24 0 0 0.00499 0 0 C14orf143 90141 broad.mit.edu 37 14 90420982 90420982 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:90420982G>C uc001xxt.2 - 1 108 c.23C>G c.(22-24)GCC>GGC p.A8G C14orf143_uc001xxs.2_5'Flank|C14orf143_uc001xxv.1_RNA|TDP1_uc010atm.2_5'Flank|TDP1_uc001xxy.2_5'Flank|TDP1_uc001xxz.2_5'Flank|TDP1_uc010atn.2_5'Flank|TDP1_uc001xya.2_5'Flank|TDP1_uc001xyb.2_5'Flank|C14orf143_uc001xxw.1_5'Flank|C14orf143_uc001xxx.1_Missense_Mutation_p.A8G NM_145231 NP_660274 Q9BUY7 EFC11_HUMAN hypothetical protein LOC90141 8 calcium ion binding 0 all_cancers(154;0.136) Epithelial(152;0.194) CCGCGACCTGGCTCTGGCCTC 0.642 NA 3 3 0 0 0.000248 0 0 KIAA1409 57578 broad.mit.edu 37 14 94066930 94066930 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:94066930C>A uc001ybv.1 + 22 2940 c.2857C>A c.(2857-2859)CTT>ATT p.L953I KIAA1409_uc001ybs.1_Missense_Mutation_p.L953I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1130 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATGTCTTTGTCTTGACTTCCA 0.378 NA 16 39 1.5739e-10 2.73465e-10 0.004007 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102469195 102469195 + Silent SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr14:102469195G>C uc001yks.2 + 23 4940 c.4776G>C c.(4774-4776)CTG>CTC p.L1592L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1592 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGGATGTTCTGAACATCCAGG 0.433 NA 5 42 0 0 0.000602 0 0 TMOD2 29767 broad.mit.edu 37 15 52065968 52065968 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr15:52065968C>T uc002abk.2 + 4 564 c.343C>T c.(343-345)CTT>TTT p.L115F TMOD2_uc002abl.3_Missense_Mutation_p.L115F|TMOD2_uc010bfb.2_Missense_Mutation_p.L71F NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 115 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) AAAAGTGACCCTTGACCCAGA 0.423 NA 35 42 0 0 0.002445 0 0 WDR72 256764 broad.mit.edu 37 15 53907848 53907849 + Missense_Mutation DNP CC CC AA TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr15:53907848_53907849CC>AA uc002acj.2 - 15 2596_2597 c.2554_2555GG>TT c.(2554-2556)GGA>TTA p.G852L WDR72_uc010bfi.1_Missense_Mutation_p.G852L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 852 lung(1)|skin(1) 2 all cancers(107;0.0511) TTTTATCATTCCACTATTGCAT 0.351 NA 21 35 0 0 0.004672 0 0 RAB8B 51762 broad.mit.edu 37 15 63481946 63481946 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr15:63481946C>T uc002alz.2 + 1 219 c.123C>T c.(121-123)ATC>ATT p.I41I RAB8B_uc010uih.1_Silent_p.I41I NM_016530 NP_057614 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 41 Effector region (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1)|kidney(1) 2 TCTCCACCATCGGTGAGGGAG 0.443 NA 5 20 0 0 0.001168 0 0 NTRK3 4916 broad.mit.edu 37 15 88576139 88576139 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr15:88576139C>T uc002bme.1 - 13 1696 c.1534G>A c.(1534-1536)GAG>AAG p.E512K NTRK3_uc002bmh.2_Missense_Mutation_p.E504K|NTRK3_uc002bmf.1_Missense_Mutation_p.E512K|NTRK3_uc010upl.1_Missense_Mutation_p.E414K|NTRK3_uc010bnh.1_Missense_Mutation_p.E504K|NTRK3_uc002bmg.2_Missense_Mutation_p.E512K|NTRK3_uc010bni.2_RNA NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 512 Cytoplasmic (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) TGGGGGTTCTCAATGACAGGG 0.602 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 6 24 0 0 0.001984 0 0 NTRK3 4916 broad.mit.edu 37 15 88726685 88726685 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr15:88726685G>T uc002bme.1 - 4 521 c.359C>A c.(358-360)CCC>CAC p.P120H NTRK3_uc002bmh.2_Missense_Mutation_p.P120H|NTRK3_uc002bmf.1_Missense_Mutation_p.P120H|NTRK3_uc010upl.1_Missense_Mutation_p.P22H|NTRK3_uc010bnh.1_Missense_Mutation_p.P120H|NTRK3_uc002bmg.2_Missense_Mutation_p.P120H NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 120 LRR 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) AAAGGCTCTGGGCTGAATGCT 0.493 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 43 51 5.73435e-26 1.22001e-25 0.00361 1 0 PDIA2 64714 broad.mit.edu 37 16 335343 335343 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:335343T>A uc002cgn.1 + 11 1935 c.827T>A c.(826-828)CTC>CAC p.L276H PDIA2_uc010bqt.1_Missense_Mutation_p.L121H|PDIA2_uc002cgo.1_Missense_Mutation_p.L276H NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 276 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCAGGATCCTCAACCACCTG 0.647 NA 21 17 0 0 0.001882 0 0 C16orf11 146325 broad.mit.edu 37 16 613534 613534 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:613534C>T uc002chk.2 + 2 519 c.240C>T c.(238-240)TCC>TCT p.S80S NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 80 central_nervous_system(1) 1 GCCGTGGCTCCACCACGCCTA 0.687 NA 4 12 0 0 0.000248 0 0 CREBBP 1387 broad.mit.edu 37 16 3860676 3860676 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:3860676C>A uc002cvv.2 - 3 1107 c.903G>T c.(901-903)CAG>CAT p.Q301H CREBBP_uc002cvw.2_Missense_Mutation_p.Q301H NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 301 Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGACCATGCTCTGTTTGCTGG 0.493 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 43 54 1.76056e-25 3.72666e-25 0.002852 1 0 CLEC16A 23274 broad.mit.edu 37 16 11154765 11154765 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:11154765C>T uc002dao.2 + 19 2232 c.2002C>T c.(2002-2004)CGG>TGG p.R668W CLEC16A_uc002dan.3_Missense_Mutation_p.R650W NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 668 ovary(1)|central_nervous_system(1) 2 CCAGGCCATCCGGGTGTTCTT 0.532 NA 23 198 0 0 0.00333 0 0 XYLT1 64131 broad.mit.edu 37 16 17353202 17353202 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:17353202G>C uc002dfa.2 - 3 641 c.556C>G c.(556-558)CCG>GCG p.P186A NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 186 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 TGTCTACTCGGTGGCTTCTTC 0.527 NA 43 62 0 0 0.002522 0 0 VWA3A 146177 broad.mit.edu 37 16 22161194 22161194 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:22161194T>C uc010vbq.1 + 29 3167 c.3071T>C c.(3070-3072)ATG>ACG p.M1024T VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.M102T|VWA3A_uc010bxe.1_Missense_Mutation_p.M126T NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1024 VWFA 2. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CATGAGGCTATGCAATGGGTG 0.552 NA 19 26 0 0 0.006122 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499675 27499675 + Nonsense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:27499675C>T uc002dov.1 - 23 3613 c.3573G>A c.(3571-3573)TGG>TGA p.W1191* GTF3C1_uc002dou.2_Nonsense_Mutation_p.W1191* NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1191 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ACTGCTCTTCCCAGCCAGCAC 0.562 NA 6 174 0 0 0.001168 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485687 31485687 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:31485687C>G uc002ecd.1 + 6 456 c.430C>G c.(430-432)CCT>GCT p.P144A TGFB1I1_uc002ece.1_Missense_Mutation_p.P127A|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 144 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CAGCCCGTCTCCTGGCCTCCC 0.557 NA 12 64 0 0 0.001368 0 0 ABCC12 94160 broad.mit.edu 37 16 48122480 48122480 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:48122480C>T uc002efc.1 - 24 3797 c.3451G>A c.(3451-3453)GGG>AGG p.G1151R 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 1151 ABC transporter 2. 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) CCAACAATCCCGACTGTCTGC 0.463 NA 7 48 0 0 0.004482 0 0 ZNF423 23090 broad.mit.edu 37 16 49670203 49670203 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:49670203C>A uc002efs.2 - 5 3158 c.2860G>T c.(2860-2862)GGC>TGC p.G954C ZNF423_uc010vgn.1_Missense_Mutation_p.G837C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 954 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TTGGCAGGGCCCCGGTGCGTC 0.577 NA 17 34 0.000958276 0.00135 0.007413 1 0 CYLD 1540 broad.mit.edu 37 16 50813827 50813827 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr16:50813827C>T uc002egp.1 + 9 1805 c.1390C>T c.(1390-1392)CCT>TCT p.P464S CYLD_uc002ego.2_Missense_Mutation_p.P461S|CYLD_uc010cbs.1_Missense_Mutation_p.P461S|CYLD_uc002egq.1_Missense_Mutation_p.P461S|CYLD_uc002egr.1_Missense_Mutation_p.P461S|CYLD_uc002egs.1_Missense_Mutation_p.P461S NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 464 Interaction with TRAF2.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GGCCATGCCTCCTGGGAACTC 0.527 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 7 47 0 0 0.001984 0 0 KIAA0664 23277 broad.mit.edu 37 17 2595924 2595924 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:2595924C>A uc002fuy.1 - 21 3348 c.3262G>T c.(3262-3264)GCC>TCC p.A1088S KIAA0664_uc002fux.1_Missense_Mutation_p.A1021S|KIAA0664_uc010ckc.1_Missense_Mutation_p.A74S NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 1088 binding breast(2) 2 AGGTAGCGGGCGCGGTACAGC 0.706 NA 10 11 6.40141e-05 9.33353e-05 0.000978 1 0 PITPNM3 83394 broad.mit.edu 37 17 6381406 6381406 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:6381406G>A uc002gdd.3 - 8 940 c.789C>T c.(787-789)ATC>ATT p.I263I PITPNM3_uc010cln.2_Silent_p.I227I|PITPNM3_uc002gdc.3_5'UTR NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 263 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CACAGTCCCCGATGAGACACA 0.677 NA 16 31 0 0 0.003163 0 0 C17orf68 80169 broad.mit.edu 37 17 8140817 8140817 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:8140817T>A uc002gkq.3 - 5 727 c.668A>T c.(667-669)CAG>CTG p.Q223L C17orf68_uc010cnv.2_Intron NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 223 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 CAGGTTTCGCTGCACACCTCT 0.323 NA 13 14 0 0 0.003163 0 0 MYH1 4619 broad.mit.edu 37 17 10415802 10415802 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:10415802C>G uc002gmo.2 - 12 1164 c.1070G>C c.(1069-1071)GGG>GCG p.G357A uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 357 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CATCACAGCCCCTGTGAGCTT 0.453 NA 32 38 0 0 0.002096 0 0 SYNRG 11276 broad.mit.edu 37 17 35930960 35930960 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:35930960C>T uc002hoa.2 - 10 1206 c.1123G>A c.(1123-1125)GAT>AAT p.D375N SYNRG_uc010wde.1_Missense_Mutation_p.D297N|SYNRG_uc010wdf.1_Missense_Mutation_p.D297N|SYNRG_uc002hoc.2_Missense_Mutation_p.D296N|SYNRG_uc002hoe.2_Missense_Mutation_p.D297N|SYNRG_uc002hod.2_Missense_Mutation_p.D297N|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.D375N|SYNRG_uc002hof.2_Missense_Mutation_p.D87N|SYNRG_uc010cvd.1_Missense_Mutation_p.D175N|SYNRG_uc002hog.1_Missense_Mutation_p.D509N NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 375 EH. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TTTAAAGCATCAGGACTCATT 0.458 NA 12 103 0 0 0.00245 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39382920 39382920 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:39382920G>T uc002hwf.2 + 1 21 c.14G>T c.(13-15)TGC>TTC p.C5F NM_031961 NP_114167 Q9BYQ4 KRA92_HUMAN keratin associated protein 9.2 5 keratin filament protein binding upper_aerodigestive_tract(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) ACCCACTGTTGCTCCCCTTGC 0.582 NA 42 120 1.35964e-18 2.68706e-18 0.00361 1 0 KRTAP9-4 85280 broad.mit.edu 37 17 39405986 39405986 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:39405986G>T uc002hwi.2 + 1 48 c.14G>T c.(13-15)TGC>TTC p.C5F KRTAP9-9_uc010wfq.1_Intron NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 5 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) ACCCACTGTTGCTCCCCTTGC 0.577 NA 8 92 2.27111e-07 3.52064e-07 0.001368 1 0 MRPL10 124995 broad.mit.edu 37 17 45901816 45901816 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:45901816T>C uc002ilz.2 - 5 567 c.541A>G c.(541-543)ATT>GTT p.I181V OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.I142V|MRPL10_uc002ily.2_Missense_Mutation_p.I191V NM_145255 NP_660298 Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 precursor 181 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome ovary(1) 1 GTGTCATCAATGCAGCCACCT 0.537 NA 23 16 0 0 0.00333 0 0 CA10 56934 broad.mit.edu 37 17 49731063 49731063 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:49731063G>A uc002itw.3 - 5 1486 c.500C>T c.(499-501)ACG>ATG p.T167M CA10_uc002itu.3_Missense_Mutation_p.T96M|CA10_uc002itv.3_Missense_Mutation_p.T173M|CA10_uc002itx.3_Missense_Mutation_p.T167M|CA10_uc002ity.3_Missense_Mutation_p.T167M|CA10_uc002itz.2_Missense_Mutation_p.T167M NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 167 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTGACATTCGTATATAGCTC 0.403 NA 10 14 0 0 0.008291 0 0 INTS2 57508 broad.mit.edu 37 17 59968907 59968907 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:59968907C>A uc002izn.2 - 14 1942 c.1866G>T c.(1864-1866)CAG>CAT p.Q622H INTS2_uc002izm.2_Missense_Mutation_p.Q614H NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 622 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TGAGTATCTCCTGTTCTGTGA 0.333 NA 41 67 6.31075e-24 1.30925e-23 0.00361 1 0 KCNJ16 3773 broad.mit.edu 37 17 68128776 68128776 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr17:68128776G>T uc002jin.2 + 5 1034 c.548G>T c.(547-549)CGT>CTT p.R183L KCNJ16_uc002jio.2_Missense_Mutation_p.R183L|KCNJ16_uc002jip.2_Missense_Mutation_p.R183L|KCNJ16_uc002jiq.2_Missense_Mutation_p.R215L NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 183 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CAAACCATTCGTTTCAGCTAC 0.458 NA 21 43 3.8784e-16 7.38491e-16 0.001882 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14851935 14851935 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr18:14851935A>T uc010dlo.2 + 36 3815 c.3635A>T c.(3634-3636)CAA>CTA p.Q1212L ANKRD30B_uc010xal.1_Missense_Mutation_p.Q354L NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1297 ovary(1)|skin(1) 2 GCTCCTTTGCAAGGAATAATG 0.383 NA 5 4 0 0 0.000602 0 0 DSC3 1825 broad.mit.edu 37 18 28611062 28611062 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr18:28611062C>T uc002kwj.3 - 3 386 c.231G>A c.(229-231)GGG>GGA p.G77G DSC3_uc002kwi.3_Silent_p.G77G NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 77 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGTACACTGACCCATCATTTA 0.418 NA 7 18 0 0 0.001984 0 0 CCBE1 147372 broad.mit.edu 37 18 57122083 57122083 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr18:57122083C>A uc002lib.2 - 6 724 c.654G>T c.(652-654)AAG>AAT p.K218N CCBE1_uc010dpq.2_5'UTR|CCBE1_uc002lia.2_Missense_Mutation_p.K71N NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 218 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) CGGCACGTACCTTTTGCTTCA 0.507 NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524) NA 22 23 1.50039e-11 2.68525e-11 0.001882 1 0 C19orf29 58509 broad.mit.edu 37 19 3611989 3611989 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:3611989G>A uc002lyh.2 - 10 2262 c.2209C>T c.(2209-2211)CGC>TGC p.R737C C19orf29_uc010xho.1_Missense_Mutation_p.R196C|C19orf29_uc010dtn.2_Missense_Mutation_p.R585C|C19orf29_uc002lyi.3_Missense_Mutation_p.R737C|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 737 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) AACTGGCAGCGGAAGCCGTGG 0.632 NA 5 55 0 0 0.000602 0 0 C3 718 broad.mit.edu 37 19 6696469 6696469 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:6696469C>A uc002mfm.2 - 23 2933 c.2871G>T c.(2869-2871)GTG>GTT p.V957V NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 957 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTCTTTCTGCACTCCTTCTG 0.572 NA 13 16 1.5842e-08 2.56051e-08 0.001855 1 0 FBN3 84467 broad.mit.edu 37 19 8196582 8196582 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:8196582C>A uc002mjf.2 - 14 1867 c.1846G>T c.(1846-1848)GTG>TTG p.V616L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 616 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GTGCTGCGCACGTGGGTGTCC 0.677 NA 10 19 0.000673444 0.000951953 0.008291 1 0 FBXL12 54850 broad.mit.edu 37 19 9921644 9921644 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:9921644C>A uc002mme.2 - 3 1151 c.909G>T c.(907-909)CTG>CTT p.L303L FBXL12_uc002mmd.2_Silent_p.L250L|FBXL12_uc002mmf.2_Silent_p.L250L|FBXL12_uc002mmg.2_Silent_p.L250L|FBXL12_uc002mmh.2_Silent_p.L250L NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 303 protein binding lung(1)|kidney(1) 2 GCCCCTTACACAGGATCTTCT 0.597 NA 16 14 1.99824e-07 3.12084e-07 0.00499 1 0 COL5A3 50509 broad.mit.edu 37 19 10107298 10107298 + Missense_Mutation SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:10107298A>G uc002mmq.1 - 12 1417 c.1331T>C c.(1330-1332)ATG>ACG p.M444T NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 444 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TACCGGCATCATGATCACAGT 0.532 NA 19 33 0 0 0.007413 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10224379 10224379 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:10224379C>T uc002mna.2 + 13 1350 c.1350C>T c.(1348-1350)TTC>TTT p.F450F PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.S471F|P2RY11_uc002mnc.2_Silent_p.F30F NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGGGGGACTTCCTGTGGCCCA 0.637 NA OREG0025230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 18 0 0 0.007413 0 0 KEAP1 9817 broad.mit.edu 37 19 10600474 10600474 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:10600474T>C uc002moq.1 - 4 1537 c.1381A>G c.(1381-1383)ATC>GTC p.I461V KEAP1_uc002mop.1_Missense_Mutation_p.I179V|KEAP1_uc002mor.1_Missense_Mutation_p.I461V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 461 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCCACCCCGATCCTTCGTGTC 0.552 NA 12 15 0 0 0.001368 0 0 ZNF700 90592 broad.mit.edu 37 19 12061049 12061049 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:12061049G>A uc002msu.2 + 4 2336 c.2210G>A c.(2209-2211)TGT>TAT p.C737Y ZNF700_uc010xme.1_Missense_Mutation_p.C755Y|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTAAGGATTGTGGGAAAGCA 0.398 NA 11 19 0 0 0.001855 0 0 ZNF44 51710 broad.mit.edu 37 19 12383799 12383799 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:12383799T>C uc010xmj.1 - 5 1620 c.1415A>G c.(1414-1416)AAG>AGG p.K472R ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.K424R NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 472 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CCCACATTGCTTGCATTCATA 0.423 NA 27 32 0 0 0.00632 0 0 NCAN 1463 broad.mit.edu 37 19 19356128 19356128 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:19356128G>A uc002nlz.2 + 13 3598 c.3499G>A c.(3499-3501)GAG>AAG p.E1167K NCAN_uc002nma.2_Intron NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1167 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCAGCAATTTGAGAACTGGCG 0.607 NA 17 18 0 0 0.006122 0 0 ZNF257 113835 broad.mit.edu 37 19 22271945 22271945 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:22271945G>T uc010ecx.2 + 4 1562 c.1393G>T c.(1393-1395)GGC>TGC p.G465C ZNF257_uc010ecy.2_Missense_Mutation_p.G433C NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 465 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAAGAGTGTGGCAAAGCCTT 0.403 NA 11 27 4.68919e-08 7.43495e-08 0.008291 1 0 ZNF99 7652 broad.mit.edu 37 19 22952782 22952782 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:22952782C>G uc010xrh.1 - 1 3 c.3G>C c.(1-3)ATG>ATC p.M1I NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACCAAAAAGACATGTTGAGTT 0.159 NA 7 16 0 0 0.00308 0 0 KCNK6 9424 broad.mit.edu 37 19 38817582 38817582 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:38817582G>T uc002oic.2 + 2 782 c.672G>T c.(670-672)GAG>GAT p.E224D KCNK6_uc002oid.2_Missense_Mutation_p.E90D NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 224 voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) TGCCCGGGGAGGCCCCTGGCC 0.637 NA 43 58 1.02591e-13 1.89293e-13 0.002522 1 0 AKT2 208 broad.mit.edu 37 19 40748459 40748459 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:40748459G>A uc002onf.2 - 5 685 c.423C>T c.(421-423)AGC>AGT p.S141S AKT2_uc010egs.2_Silent_p.S141S|AKT2_uc010egt.2_Silent_p.S79S|AKT2_uc010xvj.1_Silent_p.S79S|AKT2_uc010egu.1_Silent_p.S79S|AKT2_uc010xvk.1_Silent_p.S141S|AKT2_uc002one.2_Silent_p.S37S NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 141 insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) CCCGTGCCTTGCTGACCGCCA 0.647 NA A ovarian|pancreatic 56 73 0 0 0.00361 0 0 PLD3 23646 broad.mit.edu 37 19 40884020 40884020 + Silent SNP T T G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:40884020T>G uc002onm.3 + 13 1811 c.1413T>G c.(1411-1413)CCT>CCG p.P471P PLD3_uc002onj.3_Silent_p.P471P|PLD3_uc002onk.3_Silent_p.P471P|PLD3_uc002onl.3_Silent_p.P471P|PLD3_uc002onn.2_Silent_p.P471P NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 471 Lumenal (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GGGACTCCCCTTACAGCCATG 0.682 NA 58 68 0 0 0.00361 0 0 ZNF480 147657 broad.mit.edu 37 19 52825717 52825717 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:52825717G>T uc010ydl.1 + 5 1284 c.1214G>T c.(1213-1215)GGA>GTA p.G405V ZNF480_uc002pyv.2_Missense_Mutation_p.G328V|ZNF480_uc010ydm.1_Missense_Mutation_p.G362V|ZNF480_uc010epn.2_Missense_Mutation_p.G236V|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 405 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AATGAATGTGGAAAAGTATTT 0.338 NA 15 55 6.31663e-08 9.93975e-08 0.003163 1 0 ZNF813 126017 broad.mit.edu 37 19 53989948 53989948 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:53989948C>G uc002qbu.2 + 3 206 c.78C>G c.(76-78)GAC>GAG p.D26E ZNF813_uc010eqq.1_RNA NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AATGCCTGGACCCTGCTCAGA 0.478 NA 46 95 0 0 0.00361 0 0 NLRP12 91662 broad.mit.edu 37 19 54299200 54299200 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:54299200T>A uc002qch.3 - 9 3231 c.3011A>T c.(3010-3012)TAC>TTC p.Y1004F NLRP12_uc010eqw.2_Missense_Mutation_p.Y230F|NLRP12_uc002qci.3_Missense_Mutation_p.Y947F|NLRP12_uc002qcj.3_Missense_Mutation_p.Y1005F|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 1004 LRR 7. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GTTGGTCAGGTAAAGGTCGGT 0.557 NA 20 19 0 0 0.008871 0 0 NLRP4 147945 broad.mit.edu 37 19 56373374 56373374 + Missense_Mutation SNP T T G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr19:56373374T>G uc002qmd.3 + 5 2457 c.2035T>G c.(2035-2037)TTT>GTT p.F679V NLRP4_uc002qmf.2_Missense_Mutation_p.F604V|NLRP4_uc010etf.2_Missense_Mutation_p.F510V NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 679 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TAACGTTTCCTTTTCTGGCCA 0.428 NA 23 45 0 0 0.003954 0 0 MTA3 57504 broad.mit.edu 37 2 42909573 42909573 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:42909573C>T uc002rso.1 + 10 1237 c.567C>T c.(565-567)AGC>AGT p.S189S MTA3_uc002rsp.1_Silent_p.S189S|MTA3_uc002rsq.2_Silent_p.S245S|MTA3_uc002rsr.2_Silent_p.S245S NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 245 ELM2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ATAGACACAGCTATGATTTGA 0.373 NA 5 10 0 0 0.000602 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316265 73316265 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:73316265C>T uc002siu.3 - 2 851 c.610G>A c.(610-612)GAT>AAT p.D204N RAB11FIP5_uc002sit.3_Missense_Mutation_p.D126N NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 204 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GATTCCAGATCATACTTCTTC 0.542 NA 20 118 0 0 0.008871 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316441 73316441 + Nonsense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:73316441C>T uc002siu.3 - 2 675 c.434G>A c.(433-435)TGG>TAG p.W145* RAB11FIP5_uc002sit.3_Nonsense_Mutation_p.W67* NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 145 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CAGCTTGTACCACCTGTGAGA 0.607 NA 27 150 0 0 0.004656 0 0 REG3G 130120 broad.mit.edu 37 2 79253884 79253884 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:79253884C>G uc002snw.2 + 3 207 c.122C>G c.(121-123)CCC>CGC p.P41R REG3G_uc002snx.2_Missense_Mutation_p.P41R|REG3G_uc010ffu.2_Missense_Mutation_p.P41R NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 41 acute-phase response extracellular region sugar binding 0 ATCAGCTGTCCCAAAGGCTCC 0.532 NA 30 15 0 0 0.007291 0 0 REG3G 130120 broad.mit.edu 37 2 79253909 79253909 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:79253909C>A uc002snw.2 + 3 232 c.147C>A c.(145-147)TCC>TCA p.S49S REG3G_uc002snx.2_Silent_p.S49S|REG3G_uc010ffu.2_Silent_p.S49S NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 49 C-type lectin. acute-phase response extracellular region sugar binding 0 CCTATGGCTCCCCCTGCTATG 0.522 NA 15 32 2.32078e-09 3.93401e-09 0.003163 1 0 CKAP2L 150468 broad.mit.edu 37 2 113513884 113513884 + Missense_Mutation SNP T T G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:113513884T>G uc002tie.2 - 4 1143 c.1064A>C c.(1063-1065)CAG>CCG p.Q355P CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.Q190P|CKAP2L_uc010yxq.1_Missense_Mutation_p.Q190P NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 355 centrosome 0 GCTGGACTTCTGATCTTGCTT 0.423 NA 8 92 0 0 0.00308 0 0 ITGB6 3694 broad.mit.edu 37 2 161029180 161029180 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:161029180G>C uc002ubh.2 - 6 837 c.821C>G c.(820-822)TCT>TGT p.S274C ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.S274C|ITGB6_uc010zcq.1_Missense_Mutation_p.S232C|ITGB6_uc010fov.1_Missense_Mutation_p.S274C NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 274 Extracellular (Potential).|VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TCCAAAATGAGAATCAGCATC 0.453 NA 10 100 0 0 0.001855 0 0 SCN3A 6328 broad.mit.edu 37 2 165947810 165947810 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:165947810G>T uc002ucx.2 - 28 5345 c.4853C>A c.(4852-4854)ACC>AAC p.T1618N SCN3A_uc010zcy.1_Missense_Mutation_p.T101N|SCN3A_uc002ucy.2_Missense_Mutation_p.T1569N|SCN3A_uc002ucz.2_Missense_Mutation_p.T1569N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1618 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TCGGAACAAGGTAGGGGACAC 0.443 NA 38 53 3.54561e-26 7.62122e-26 0.002222 1 0 RBM45 129831 broad.mit.edu 37 2 178985109 178985109 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:178985109G>A uc002ulv.2 + 4 738 c.646G>A c.(646-648)GAA>AAA p.E216K NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 216 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TTTGGGACATGAACCTAGAGT 0.318 NA 7 26 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179414882 179414882 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:179414882G>C uc010zfg.1 - 286 84203 c.83979C>G c.(83977-83979)TTC>TTG p.F27993L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F21688L|TTN_uc010zfi.1_Missense_Mutation_p.F21621L|TTN_uc010zfj.1_Missense_Mutation_p.F21496L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28920 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) CTCCATCTTTGAACCAAGTTA 0.438 NA 21 141 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179580343 179580343 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:179580343A>T uc010zfg.1 - 86 22290 c.22066T>A c.(22066-22068)TTC>ATC p.F7356I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F4017I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8283 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) GAGTCAACGAATGACATTCTG 0.463 NA 15 18 0 0 0.004007 0 0 C2orf67 151050 broad.mit.edu 37 2 211018910 211018910 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:211018910T>A uc002vds.2 - 2 605 c.397A>T c.(397-399)ATC>TTC p.I133F C2orf67_uc002vdt.2_Missense_Mutation_p.I133F|C2orf67_uc002vdw.2_Missense_Mutation_p.I133F|C2orf67_uc002vdy.1_Missense_Mutation_p.I133F|C2orf67_uc002vdv.2_Missense_Mutation_p.I133F|C2orf67_uc002vdx.1_Missense_Mutation_p.I133F NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 133 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TCCTTTTTGATGAACTCTTCA 0.368 NA 19 24 0 0 0.007413 0 0 CPS1 1373 broad.mit.edu 37 2 211441117 211441117 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:211441117C>A uc002vee.3 + 3 416 c.284C>A c.(283-285)ACA>AAA p.T95K CPS1_uc010fur.2_Missense_Mutation_p.T101K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 95 Anthranilate phosphoribosyltransferase homolog. 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) CAGATTCTCACAATGGCCAAC 0.413 NA 31 45 3.99451e-17 7.71162e-17 0.001786 1 0 DGKD 8527 broad.mit.edu 37 2 234372909 234372909 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:234372909G>T uc002vui.1 + 27 3298 c.3286G>T c.(3286-3288)GCA>TCA p.A1096S DGKD_uc002vuj.1_Missense_Mutation_p.A1052S|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 1096 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CTGCCAGTCCGCAGAGCCCGG 0.647 NA 20 22 4.35082e-09 7.25716e-09 0.001523 1 0 KIF1A 547 broad.mit.edu 37 2 241679756 241679756 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:241679756G>A uc002vzy.2 - 34 3618 c.3472C>T c.(3472-3474)CGT>TGT p.R1158C KIF1A_uc010fzk.2_Missense_Mutation_p.R1259C|KIF1A_uc002vzz.1_Missense_Mutation_p.R1259C NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1158 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) ATGCCCCCACGGTGGTCCACC 0.662 NA 4 38 0 0 0.001168 0 0 DDRGK1 65992 broad.mit.edu 37 20 3175885 3175885 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:3175885C>T uc002wic.2 - 5 647 c.625G>A c.(625-627)GAG>AAG p.E209K DDRGK1_uc010gaw.2_RNA|DDRGK1_uc010gax.1_Missense_Mutation_p.E209K NM_023935 NP_076424 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 precursor 209 endoplasmic reticulum protein binding 0 ACCTGTTCCTCAGTCATGGTC 0.642 NA 11 71 0 0 0.001855 0 0 DDRGK1 65992 broad.mit.edu 37 20 3175889 3175889 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:3175889C>T uc002wic.2 - 5 643 c.621G>A c.(619-621)ATG>ATA p.M207I DDRGK1_uc010gaw.2_RNA|DDRGK1_uc010gax.1_Missense_Mutation_p.M207I NM_023935 NP_076424 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 precursor 207 endoplasmic reticulum protein binding 0 GTTCCTCAGTCATGGTCTCTC 0.637 NA 12 70 0 0 0.001855 0 0 DDRGK1 65992 broad.mit.edu 37 20 3175940 3175940 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:3175940C>T uc002wic.2 - 5 592 c.570G>A c.(568-570)CTG>CTA p.L190L DDRGK1_uc010gaw.2_RNA|DDRGK1_uc010gax.1_Silent_p.L190L NM_023935 NP_076424 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 precursor 190 endoplasmic reticulum protein binding 0 CCTTCAGTTTCAGGTACTCCT 0.617 NA 9 58 0 0 0.004482 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210254 3210254 + Nonsense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:3210254G>C uc002wig.2 - 13 1754 c.1706C>G c.(1705-1707)TCA>TGA p.S569* SLC4A11_uc010zqe.1_Nonsense_Mutation_p.S596*|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Nonsense_Mutation_p.S553* NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 569 Extracellular (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CGCCTGGCCTGAGTGTGTGGC 0.667 NSCLC(190;922 2139 10266 10292 38692) NA 11 19 0 0 0.000978 0 0 PLCB1 23236 broad.mit.edu 37 20 8689341 8689341 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:8689341T>A uc002wnb.2 + 12 1195 c.1192T>A c.(1192-1194)TGT>AGT p.C398S PLCB1_uc010zrb.1_Missense_Mutation_p.C297S|PLCB1_uc002wna.2_Missense_Mutation_p.C398S|PLCB1_uc002wnc.1_Missense_Mutation_p.C297S NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 398 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AATTGCGGAGTGTGCATTTAA 0.343 NA 8 18 0 0 0.004482 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841670 36841670 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:36841670G>T uc002xhy.1 - 14 3649 c.3377C>A c.(3376-3378)CCA>CAA p.P1126Q KIAA1755_uc002xhv.1_Missense_Mutation_p.P190Q|KIAA1755_uc002xhw.1_Missense_Mutation_p.P181Q|KIAA1755_uc002xhx.1_Missense_Mutation_p.P404Q NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 1126 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TTCCTGGGGTGGAGAGCCTGC 0.607 NA 6 17 3.59834e-05 5.30214e-05 0.001168 1 0 TOX2 84969 broad.mit.edu 37 20 42694462 42694462 + Silent SNP G G T rs148482710 TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:42694462G>T uc002xlf.3 + 6 1034 c.1017G>T c.(1015-1017)ACG>ACT p.T339T TOX2_uc010ggo.2_Silent_p.T357T|TOX2_uc002xle.3_Silent_p.T315T|TOX2_uc010ggp.2_Silent_p.T315T|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.T235T NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCTTCCTGACGCCGTCGGACC 0.662 NA 25 53 9.86323e-18 1.91301e-17 0.003954 1 0 C20orf43 51507 broad.mit.edu 37 20 55092258 55092258 + Splice_Site SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:55092258G>T uc002xxt.2 + 8 849 c.742_splice c.e8+1 p.A248_splice C20orf43_uc010zzf.1_Splice_Site_p.A278_splice|C20orf43_uc002xxu.2_Splice_Site_p.A247_splice|C20orf43_uc002xxv.2_Splice_Site_p.Q229_splice|GCNT7_uc010zzg.1_Intron NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 ovary(1) 1 Colorectal(105;0.202) AAAAGCACAGGTGGGTCCTGT 0.542 NA 5 9 0.000602214 0.000854161 0.000602 1 0 VAPB 9217 broad.mit.edu 37 20 57016113 57016113 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:57016113C>T uc002xza.2 + 5 818 c.547C>T c.(547-549)CTA>TTA p.L183L VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_Silent_p.L60L|VAPB_uc002xzc.2_Intron NM_004738 NP_004729 O95292 VAPB_HUMAN VAMP-associated protein B/C 183 Potential.|Cytoplasmic (Potential). cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(1) 1 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) AGTTCAGAGGCTACGGGAGGA 0.423 NA 3 9 0 0 0.004672 0 0 PHACTR3 116154 broad.mit.edu 37 20 58348444 58348444 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:58348444C>A uc002yau.2 + 6 1329 c.862C>A c.(862-864)CTT>ATT p.L288I PHACTR3_uc002yat.2_Missense_Mutation_p.L285I|PHACTR3_uc010zzw.1_Missense_Mutation_p.L247I|PHACTR3_uc002yav.2_Missense_Mutation_p.L247I|PHACTR3_uc002yaw.2_Missense_Mutation_p.L247I|PHACTR3_uc002yax.2_Missense_Mutation_p.L177I NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 288 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCACCGGCCTCTTCCCCCAAG 0.672 NA 20 18 4.96729e-08 7.84606e-08 0.008871 1 0 TIAM1 7074 broad.mit.edu 37 21 32508251 32508251 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr21:32508251C>A uc002yow.1 - 24 4355 c.3883G>T c.(3883-3885)GTC>TTC p.V1295F TIAM1_uc011adk.1_Missense_Mutation_p.V1295F|TIAM1_uc011adl.1_Missense_Mutation_p.V1235F NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1295 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TGATACACACCGAATGCTGCC 0.448 NA 22 26 1.87028e-06 2.84638e-06 0.001882 1 0 TIAM1 7074 broad.mit.edu 37 21 32638875 32638875 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr21:32638875G>A uc002yow.1 - 5 886 c.414C>T c.(412-414)GAC>GAT p.D138D TIAM1_uc011adk.1_Silent_p.D138D|TIAM1_uc011adl.1_Silent_p.D138D|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 138 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AATATGTAGCGTCATCCCCGT 0.537 NA 21 43 0 0 0.008871 0 0 SLC25A18 83733 broad.mit.edu 37 22 18065397 18065397 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:18065397C>G uc002zmp.1 + 6 762 c.268C>G c.(268-270)CGG>GGG p.R90G SLC25A18_uc010gqx.2_Missense_Mutation_p.R90G|SLC25A18_uc002zmq.1_Missense_Mutation_p.R90G NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 90 Solcar 1. integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CGACTTTTTCCGGCGGCTGCT 0.542 Colon(118;1560 1625 18964 29606 50093) NA 5 2 0 0 0.001168 0 0 ZNF74 7625 broad.mit.edu 37 22 20755021 20755021 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:20755021G>C uc010gsm.2 + 4 432 c.220G>C c.(220-222)GAG>CAG p.E74Q ZNF74_uc002zsg.2_Missense_Mutation_p.E3Q|ZNF74_uc002zsh.2_Missense_Mutation_p.E74Q|ZNF74_uc002zsi.2_Missense_Mutation_p.E3Q|ZNF74_uc010gsn.2_Missense_Mutation_p.E3Q NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 74 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTGATGTTGGAGAACTACCA 0.542 NA 15 79 0 0 0.00245 0 0 MMP11 4320 broad.mit.edu 37 22 24122785 24122785 + Missense_Mutation SNP G G T rs142391582 by1000genomes TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:24122785G>T uc002zxx.2 + 4 521 c.499G>T c.(499-501)GAC>TAC p.D167Y MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 167 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GCATGGGGACGACCTGCCGTT 0.647 NA 7 22 8.12818e-05 0.000117282 0.001984 1 0 PVALB 5816 broad.mit.edu 37 22 37209698 37209698 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:37209698C>A uc010gwz.2 - 3 326 c.296G>T c.(295-297)GGG>GTG p.G99V PVALB_uc003apx.2_Missense_Mutation_p.G99V NM_002854 NP_002845 P20472 PRVA_HUMAN parvalbumin 99 EF-hand 2.|2. Missing (in Ref. 1; CAA45134). calcium ion binding skin(1) 1 ACCGTCAACCCCAATTTTGCC 0.512 NA 52 83 1.63038e-21 3.31643e-21 0.00361 1 0 LGALS2 3957 broad.mit.edu 37 22 37966365 37966365 + Nonsense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:37966365C>A uc003ata.2 - 4 416 c.304G>T c.(304-306)GAG>TAG p.E102* NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 102 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) AAAGTCAGCTCGTGCCCATCT 0.527 GBM(193;1840 2185 13711 20676 24505) NA 7 55 8.12818e-05 0.000117282 0.001984 1 0 TCF20 6942 broad.mit.edu 37 22 42608404 42608404 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr22:42608404C>A uc003bcj.1 - 1 3042 c.2908G>T c.(2908-2910)GCA>TCA p.A970S TCF20_uc003bck.1_Missense_Mutation_p.A970S|TCF20_uc003bnt.2_Missense_Mutation_p.A970S NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 970 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TCATGGGTTGCTGCTCCAGGG 0.562 NA 27 44 7.26314e-15 1.3767e-14 0.007291 1 0 CHL1 10752 broad.mit.edu 37 3 432804 432804 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:432804C>T uc003bou.2 + 21 2976 c.2705C>T c.(2704-2706)CCT>CTT p.P902L CHL1_uc003bot.2_Missense_Mutation_p.P918L|CHL1_uc003bow.1_Missense_Mutation_p.P902L|CHL1_uc011asi.1_Missense_Mutation_p.P918L NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 902 Fibronectin type-III 3.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGAGCTGGTCCTGAAAGTGAG 0.383 NA 19 27 0 0 0.008871 0 0 CNTN4 152330 broad.mit.edu 37 3 2861215 2861215 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:2861215G>T uc003bpc.2 + 6 625 c.404G>T c.(403-405)CGT>CTT p.R135L CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R135L NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 135 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GTGTCTGTCCGTCGAGGTCAA 0.403 NA 19 30 1.55795e-14 2.92641e-14 0.001882 1 0 EDEM1 9695 broad.mit.edu 37 3 5244822 5244822 + Missense_Mutation SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:5244822A>G uc003bqi.2 + 5 1162 c.1030A>G c.(1030-1032)ACA>GCA p.T344A EDEM1_uc011asz.1_Missense_Mutation_p.T122A|EDEM1_uc003bqh.2_Missense_Mutation_p.T344A NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 344 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GAGCAATGATACAGGATTACT 0.537 NA 38 55 0 0 0.004878 0 0 DCLK3 85443 broad.mit.edu 37 3 36779795 36779795 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:36779795G>T uc003cgi.2 - 2 847 c.356C>A c.(355-357)GCA>GAA p.A119E NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 119 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 CTCTCCCCTTGCGTGCCTCTC 0.572 NA 66 96 1.74474e-33 3.93275e-33 0.00361 1 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T rs121913403 TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:41266113C>T uc010hia.1 + 4 266 c.110C>T c.(109-111)TCT>TTT p.S37F CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F|CTNNB1_uc011azf.1_Missense_Mutation_p.S30F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 37 S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498 Colon(6;3 56 14213 18255) S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 14 19 0 0 0.001855 0 0 ZNF35 7584 broad.mit.edu 37 3 44700297 44700297 + Nonsense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:44700297C>T uc003cnq.2 + 4 663 c.442C>T c.(442-444)CAA>TAA p.Q148* ZNF35_uc003cnr.2_5'UTR NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 148 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AGCTGATCCTCAAGGACCTGA 0.388 NA 6 47 0 0 0.00308 0 0 ZNF501 115560 broad.mit.edu 37 3 44775979 44775979 + Silent SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:44775979A>G uc003cnu.1 + 3 467 c.66A>G c.(64-66)TCA>TCG p.S22S ZNF501_uc003cnv.1_Silent_p.S22S NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 22 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) AGAAACCTTCAAAGTGTAGTG 0.413 NA 15 16 0 0 0.008871 0 0 ALS2CL 259173 broad.mit.edu 37 3 46717892 46717892 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:46717892C>A uc003cqa.1 - 19 2219 c.2029G>T c.(2029-2031)GCT>TCT p.A677S ALS2CL_uc003cpx.1_Missense_Mutation_p.A24S|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.A192S|ALS2CL_uc003cqb.1_Missense_Mutation_p.A677S|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 677 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TTGCTCAGAGCCTGGGCCAGT 0.592 NA 14 25 2.31682e-05 3.43813e-05 0.003163 1 0 CCDC51 79714 broad.mit.edu 37 3 48474184 48474184 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:48474184C>T uc003csz.2 - 4 991 c.870G>A c.(868-870)CCG>CCA p.P290P PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Silent_p.P181P|CCDC51_uc003ctb.2_Silent_p.P181P|CCDC51_uc003ctc.2_Silent_p.P290P|CCDC51_uc003ctd.2_Silent_p.P181P NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 290 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTCTCTGGTCGGGGGACTAC 0.562 NA 21 57 0 0 0.001882 0 0 P4HTM 54681 broad.mit.edu 37 3 49043295 49043295 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:49043295G>A uc003cvg.2 + 7 1508 c.1159G>A c.(1159-1161)GAA>AAA p.E387K P4HTM_uc003cvh.2_Missense_Mutation_p.E448K|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 387 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) AACCTACGATGAAATGGTAAG 0.498 NA 10 124 0 0 0.000978 0 0 FEZF2 55079 broad.mit.edu 37 3 62358282 62358282 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:62358282G>T uc003dlh.2 - 1 469 c.262C>A c.(262-264)CTG>ATG p.L88M FEZF2_uc003dli.2_Missense_Mutation_p.L88M NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 88 transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) TAACTGAGCAGTGTCTTTGAC 0.507 NSCLC(170;1772 2053 12525 15604 23984) NA 15 27 1.01871e-10 1.77742e-10 0.008871 1 0 WDR52 55779 broad.mit.edu 37 3 113084966 113084966 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:113084966C>T uc003eae.1 - 19 2681 c.2635G>A c.(2635-2637)GAT>AAT p.D879N WDR52_uc003ead.1_Missense_Mutation_p.D60N NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 879 WD 9. central_nervous_system(1) 1 ATATTGCCATCTGCTCCAGCA 0.363 NA 7 52 0 0 0.001984 0 0 FGF12 2257 broad.mit.edu 37 3 192125822 192125822 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:192125822C>T uc003fsx.2 - 1 1017 c.191G>A c.(190-192)CGG>CAG p.R64Q FGF12_uc003fsy.2_Intron NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 64 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ACCTGGTCTCCGCCTCACCGG 0.667 NA 13 112 0 0 0.004007 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132463 193132463 + Silent SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:193132463G>C uc003ftd.2 - 26 3027 c.2919C>G c.(2917-2919)CTC>CTG p.L973L ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 973 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AAATCACAGAGAGTAGCAGAG 0.463 NA 6 8 0 0 0.001168 0 0 MUC4 4585 broad.mit.edu 37 3 195489086 195489086 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:195489086C>A uc011bto.1 - 15 14460 c.14000G>T c.(13999-14001)CGC>CTC p.R4667L MUC4_uc003fuz.2_Missense_Mutation_p.R393L|MUC4_uc003fva.2_Missense_Mutation_p.R275L|MUC4_uc003fvb.2_Missense_Mutation_p.R311L|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R311L|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R275L|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R359L|MUC4_uc011bti.1_Missense_Mutation_p.R359L|MUC4_uc011btj.1_Missense_Mutation_p.R536L|MUC4_uc011btk.1_Missense_Mutation_p.R275L|MUC4_uc011btl.1_Missense_Mutation_p.R304L|MUC4_uc011btm.1_Missense_Mutation_p.R484L|MUC4_uc011btn.1_Missense_Mutation_p.R275L|MUC4_uc003fvo.2_Missense_Mutation_p.R559L|MUC4_uc003fvp.2_Missense_Mutation_p.R508L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1552 VWFD. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGCCGTTGCGGCTCAGGAG 0.697 NA 3 3 0.004672 0.0064725 0.004672 1 0 RGS12 6002 broad.mit.edu 37 4 3319586 3319586 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:3319586C>T uc003ggw.2 + 2 2593 c.1689C>T c.(1687-1689)GGC>GGT p.G563G RGS12_uc003ggu.2_Silent_p.G563G|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.G563G|RGS12_uc003ggx.1_Silent_p.G563G NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 563 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCACCGATGGCTGGTCCAGCA 0.642 NA 19 51 0 0 0.007413 0 0 SLC2A9 56606 broad.mit.edu 37 4 9909889 9909889 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:9909889C>A uc003gmc.2 - 8 1144 c.1083G>T c.(1081-1083)GGG>GGT p.G361G SLC2A9_uc003gmd.2_Silent_p.G332G NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 361 Helical; Name=8; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.G332G(1) ovary(3) 3 TCTCGATGCCCCCTGTACTCA 0.483 NA 11 23 7.03913e-09 1.15564e-08 0.001368 1 0 SLIT2 9353 broad.mit.edu 37 4 20487859 20487859 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:20487859G>T uc003gpr.1 + 7 780 c.576G>T c.(574-576)GTG>GTT p.V192V SLIT2_uc003gps.1_Silent_p.V192V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 192 LRR 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GACTTTCTGTGGCAAGTTTCA 0.274 NA 11 24 2.27111e-07 3.52064e-07 0.001368 1 0 GABRA4 2557 broad.mit.edu 37 4 46994843 46994843 + Splice_Site SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:46994843A>T uc003gxg.2 - 2 344 c.205_splice c.e2+1 p.G69_splice NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AATCGTTCATACCCCCAAATC 0.378 Ovarian(6;283 369 8234 12290 33402) NA 9 20 0 0 0.004482 0 0 ADH4 127 broad.mit.edu 37 4 100048406 100048406 + Silent SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:100048406T>C uc003hun.2 - 7 1009 c.933A>G c.(931-933)CCA>CCG p.P311P uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.P330P NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 311 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TTAGCTCCTCTGGAAAAATAG 0.408 NA 19 26 0 0 0.001523 0 0 DNAJB14 79982 broad.mit.edu 37 4 100822192 100822192 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:100822192C>T uc003hvl.2 - 8 1284 c.1133G>A c.(1132-1134)GGA>GAA p.G378E DNAJB14_uc003hvk.2_Missense_Mutation_p.G293E|DNAJB14_uc010ili.2_Missense_Mutation_p.G311E NM_001031723 NP_001026893 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 378 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) AGTTCATCCTCCTTTATAAAG 0.378 NA 4 49 0 0 0.000602 0 0 SEC24B 10427 broad.mit.edu 37 4 110394165 110394165 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:110394165G>A uc003hzk.2 + 3 938 c.883G>A c.(883-885)GAT>AAT p.D295N SEC24B_uc003hzl.2_Missense_Mutation_p.D295N|SEC24B_uc011cfp.1_Missense_Mutation_p.D326N|SEC24B_uc011cfq.1_Missense_Mutation_p.D295N|SEC24B_uc011cfr.1_Missense_Mutation_p.D295N NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 295 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTCAGTTGCAGATTCTTTATC 0.303 NA 7 52 0 0 0.00308 0 0 KIAA0922 23240 broad.mit.edu 37 4 154556719 154556719 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:154556719C>G uc003inm.3 + 34 4602 c.4550C>G c.(4549-4551)TCT>TGT p.S1517C KIAA0922_uc010ipp.2_Missense_Mutation_p.S1518C|KIAA0922_uc010ipq.2_Missense_Mutation_p.S1286C NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1517 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TTCATCAGCTCTCCGGTCAGT 0.532 NA 8 20 0 0 0.00308 0 0 TLL1 7092 broad.mit.edu 37 4 166999170 166999170 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:166999170C>T uc003irh.1 + 18 3077 c.2430C>T c.(2428-2430)CAC>CAT p.H810H TLL1_uc011cjn.1_Silent_p.H833H|TLL1_uc011cjo.1_Silent_p.H634H NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 810 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTCCTGGCCACCGAATCAAAT 0.463 NA 18 24 0 0 0.006122 0 0 ASB5 140458 broad.mit.edu 37 4 177136761 177136761 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr4:177136761T>A uc003iuq.1 - 7 996 c.980A>T c.(979-981)CAG>CTG p.Q327L ASB5_uc003iup.1_Missense_Mutation_p.Q274L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 327 SOCS box. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TTATCGATACTGTAAGAAATT 0.333 NA 8 13 0 0 0.00308 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457453 5457453 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:5457453G>T uc003jdm.3 + 12 922 c.700G>T c.(700-702)GCC>TCC p.A234S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 234 ovary(1)|central_nervous_system(1) 2 AGAAAAACCTGCCAAAGCAAT 0.428 NA 10 12 7.03913e-09 1.15564e-08 0.001368 1 0 NSUN2 54888 broad.mit.edu 37 5 6605502 6605502 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:6605502G>A uc003jdu.2 - 15 1686 c.1621C>T c.(1621-1623)CCT>TCT p.P541S NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Missense_Mutation_p.P305S|NSUN2_uc011cmk.1_Missense_Mutation_p.P506S|NSUN2_uc003jdv.2_Missense_Mutation_p.P305S NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 541 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 GGGAATGAAGGATCCAAAGCA 0.383 NA 7 69 0 0 0.00308 0 0 CDH12 1010 broad.mit.edu 37 5 21783516 21783516 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:21783516G>T uc010iuc.2 - 8 1802 c.1344C>A c.(1342-1344)GAC>GAA p.D448E CDH12_uc011cno.1_Missense_Mutation_p.D408E|CDH12_uc003jgk.2_Missense_Mutation_p.D448E NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 448 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TGCTTTCTCTGTCTAGTAATT 0.368 NA HNSCC(59;0.17) 32 75 2.61193e-14 4.8842e-14 0.001786 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577084 33577084 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:33577084G>T uc003jia.1 - 19 3210 c.3047C>A c.(3046-3048)CCA>CAA p.P1016Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.P931Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1016 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TAGTGTTGGTGGGTTTTTTCC 0.537 NA HNSCC(64;0.19) 43 66 1.96642e-18 3.86791e-18 0.006999 1 0 BDP1 55814 broad.mit.edu 37 5 70785481 70785481 + Silent SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:70785481G>C uc003kbp.1 + 10 1727 c.1464G>C c.(1462-1464)GCG>GCC p.A488A BDP1_uc003kbn.1_Silent_p.A488A|BDP1_uc003kbo.2_Silent_p.A488A NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 488 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTGTTCAGGCGGGTCCTTCTA 0.348 NA 17 28 0 0 0.007413 0 0 FNIP1 96459 broad.mit.edu 37 5 131008179 131008179 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:131008179G>A uc003kvs.1 - 14 2100 c.1958C>T c.(1957-1959)TCT>TTT p.S653F RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.S625F|FNIP1_uc010jdm.1_Missense_Mutation_p.S608F NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 653 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTGGCAGTCAGAAGGAGAAAT 0.383 NA 9 115 0 0 0.004482 0 0 P4HA2 8974 broad.mit.edu 37 5 131543483 131543483 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:131543483C>G uc003kwh.2 - 8 1562 c.998G>C c.(997-999)TGG>TCG p.W333S P4HA2_uc003kwg.2_Missense_Mutation_p.W333S|P4HA2_uc003kwi.2_Missense_Mutation_p.W333S|P4HA2_uc003kwk.2_Missense_Mutation_p.W333S|P4HA2_uc003kwl.2_Missense_Mutation_p.W333S|P4HA2_uc003kwj.2_Missense_Mutation_p.W333S NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 333 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CGGGCTGTCCCACTCGTCCTC 0.527 Esophageal Squamous(68;117 1135 17362 19256 34242) NA 43 66 0 0 0.002522 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188067 140188067 + Nonsense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:140188067C>A uc003lhi.2 + 1 1396 c.1295C>A c.(1294-1296)TCG>TAG p.S432* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.S432*|PCDHA4_uc011daa.1_Nonsense_Mutation_p.S432* NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 432 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCGCTG 0.617 NA 59 64 4.6707e-30 1.03052e-29 0.00361 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553265 140553265 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:140553265C>T uc003lit.2 + 1 1023 c.849C>T c.(847-849)TAC>TAT p.Y283Y NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 283 Extracellular (Potential).|Cadherin 3. 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) CATTTTCTTACGCCACTGAAA 0.428 NA 32 35 0 0 0.002096 0 0 PCDH12 51294 broad.mit.edu 37 5 141335212 141335212 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:141335212C>G uc003llx.2 - 1 3416 c.2205G>C c.(2203-2205)TTG>TTC p.L735F NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 735 Helical; (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACATGAACAAAGCCAGGA 0.592 NA 12 25 0 0 0.000978 0 0 DPYSL3 1809 broad.mit.edu 37 5 146780289 146780289 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:146780289T>A uc003lon.1 - 10 1186 c.1076A>T c.(1075-1077)GAG>GTG p.E359V DPYSL3_uc003loo.2_Missense_Mutation_p.E473V NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 359 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCGCTCCTCCACACCATT 0.567 NA 27 25 0 0 0.00632 0 0 TNIP1 10318 broad.mit.edu 37 5 150422465 150422465 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:150422465C>T uc003ltf.2 - 10 1583 c.994G>A c.(994-996)GAG>AAG p.E332K TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E332K|TNIP1_uc010jhn.2_Missense_Mutation_p.E332K|TNIP1_uc011dco.1_Missense_Mutation_p.E332K|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E332K|TNIP1_uc003ltg.2_Missense_Mutation_p.E279K|TNIP1_uc003ltj.2_Missense_Mutation_p.E332K|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E279K|TNIP1_uc010jhp.1_Missense_Mutation_p.E279K|TNIP1_uc010jhr.1_Missense_Mutation_p.E332K|TNIP1_uc003ltk.2_Missense_Mutation_p.E332K NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 332 Potential.|Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTTCTGCTCATACTGCTGC 0.567 NA 13 231 0 0 0.001855 0 0 ADAM19 8728 broad.mit.edu 37 5 156946889 156946889 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr5:156946889C>A uc003lwz.2 - 6 622 c.558G>T c.(556-558)TGG>TGT p.W186C ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.W117C NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 186 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) ACTGAAGAGCCCAGTCCCTGG 0.552 NA 61 73 7.73544e-29 1.68884e-28 0.00361 1 0 FARS2 10667 broad.mit.edu 37 6 5613521 5613521 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:5613521G>C uc010jnv.1 + 6 1521 c.1185G>C c.(1183-1185)AAG>AAC p.K395N FARS2_uc003mwr.2_Missense_Mutation_p.K395N NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 395 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TGGTGGAAAAGGTTGATCTCA 0.378 NA 12 64 0 0 0.000978 0 0 BMP6 654 broad.mit.edu 37 6 7845379 7845379 + Missense_Mutation SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:7845379A>G uc003mxu.3 + 2 849 c.671A>G c.(670-672)TAC>TGC p.Y224C NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 224 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) ATAGTGGAGTACGACAAGGAG 0.483 NA 28 63 0 0 0.001786 0 0 CDKAL1 54901 broad.mit.edu 37 6 21108643 21108643 + Missense_Mutation SNP G G C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:21108643G>C uc003ndc.1 + 13 1422 c.1248G>C c.(1246-1248)AGG>AGC p.R416S CDKAL1_uc003ndd.1_Missense_Mutation_p.R416S|CDKAL1_uc003nde.1_Intron|CDKAL1_uc003ndf.1_Missense_Mutation_p.R12S NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 416 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) AAAAGCAAAGGACAAAAGATC 0.299 NA 8 30 0 0 0.004482 0 0 LRRC16A 55604 broad.mit.edu 37 6 25600552 25600552 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:25600552A>T uc011djw.1 + 33 3506 c.3130A>T c.(3130-3132)ACA>TCA p.T1044S LRRC16A_uc010jpx.2_Missense_Mutation_p.T1044S|LRRC16A_uc010jpy.2_Missense_Mutation_p.T1044S NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1044 Inhibits capping activity of CAPZA2 (By similarity). actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GAAATGGTCAACAAGAGGCTC 0.373 NA 31 64 0 0 0.003755 0 0 TNXB 7148 broad.mit.edu 37 6 32036264 32036264 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:32036264G>A uc003nzl.2 - 17 6325 c.6123C>T c.(6121-6123)ACC>ACT p.T2041T NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2123 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGCCCGAGATGGTGACCCCTT 0.607 NA 28 26 0 0 0.00632 0 0 SLC22A7 10864 broad.mit.edu 37 6 43270461 43270461 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:43270461G>T uc003out.2 + 9 1444 c.1345G>T c.(1345-1347)GCC>TCC p.A449S SLC22A7_uc010jyl.1_Missense_Mutation_p.A450S|SLC22A7_uc003ous.2_Missense_Mutation_p.A447S NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 449 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTTCACCACTGCCTACCTGTT 0.532 NA 5 12 1.26484e-09 2.15282e-09 0.00308 1 0 AARS2 57505 broad.mit.edu 37 6 44272162 44272162 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:44272162C>A uc010jza.1 - 13 1864 c.1861G>T c.(1861-1863)GAT>TAT p.D621Y SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 621 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CTTACCTCATCCACATGCAGC 0.592 NA OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 37 9.39395e-14 1.74101e-13 0.00632 1 0 MUT 4594 broad.mit.edu 37 6 49426796 49426796 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:49426796C>A uc003ozg.3 - 2 639 c.384G>T c.(382-384)AAG>AAT p.K128N NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 128 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAATCTCACCCTTAATGTTGT 0.353 NA 17 17 7.05477e-17 1.34947e-16 0.00499 1 0 POPDC3 64208 broad.mit.edu 37 6 105609469 105609469 + Nonsense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr6:105609469G>A uc003prb.2 - 2 718 c.316C>T c.(316-318)CGA>TGA p.R106* uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 106 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TGGAATTCTCGGGCAAAGGTT 0.438 NA 12 75 0 0 0.00245 0 0 PMS2 5395 broad.mit.edu 37 7 6018269 6018269 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:6018269T>C uc003spl.2 - 13 2320 c.2233A>G c.(2233-2235)ATA>GTA p.I745V PMS2_uc003spj.2_Missense_Mutation_p.I639V|PMS2_uc003spk.2_Missense_Mutation_p.I610V|PMS2_uc011jwl.1_Missense_Mutation_p.I610V|PMS2_uc010ktg.2_Missense_Mutation_p.I434V|PMS2_uc010kte.2_Missense_Mutation_p.I344V|PMS2_uc010ktf.1_Intron NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 745 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTTCTAAATATTTCCAGATTT 0.259 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 5 9 0 0 0.004482 0 0 DPY19L1 23333 broad.mit.edu 37 7 35050942 35050942 + Nonsense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:35050942C>A uc003tem.3 - 5 596 c.451G>T c.(451-453)GGA>TGA p.G151* NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 151 integral to membrane 0 AGAAACTTACCTTCACAGCTT 0.274 NA 12 23 3.27435e-08 5.21147e-08 0.00245 1 0 ABCA13 154664 broad.mit.edu 37 7 48443409 48443409 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:48443409G>T uc003toq.2 + 39 12028 c.12003G>T c.(12001-12003)GAG>GAT p.E4001D ABCA13_uc010kys.1_Missense_Mutation_p.E1075D|ABCA13_uc003tos.1_Missense_Mutation_p.E827D|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4001 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTCTGGATGAGCCCACCAGTG 0.577 NA 11 15 3.86212e-05 5.67079e-05 0.008291 1 0 EGFR 1956 broad.mit.edu 37 7 55266427 55266427 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:55266427T>A uc003tqk.2 + 23 2965 c.2719T>A c.(2719-2721)TTG>ATG p.L907M EGFR_uc010kzg.1_Missense_Mutation_p.L862M|EGFR_uc011kco.1_Missense_Mutation_p.L854M NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 907 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGTTTGGGAGTTGATGACCTT 0.488 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 46 58 0 0 0.00361 0 0 SEMA3C 10512 broad.mit.edu 37 7 80433566 80433566 + Splice_Site SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:80433566T>C uc003uhj.2 - 8 1221 c.659_splice c.e8-1 p.E220_splice SEMA3C_uc011kgw.1_Splice_Site_p.E238_splice|SEMA3C_uc011kgx.1_Splice_Site_p.E72_splice NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor immune response|response to drug membrane receptor activity ovary(1) 1 ACATAGGTTCTAGAAAAAAAG 0.373 NA 10 16 0 0 0.008291 0 0 ABCB1 5243 broad.mit.edu 37 7 87199522 87199522 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:87199522C>A uc003uiz.1 - 6 722 c.304G>T c.(304-306)GGG>TGG p.G102W ABCB1_uc011khc.1_Missense_Mutation_p.G102W NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 102 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATGAAGAACCCTGTATCATTG 0.308 NA 11 32 0.000978159 0.00136877 0.000978 1 0 STEAP1 26872 broad.mit.edu 37 7 89790150 89790150 + Missense_Mutation SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:89790150A>G uc003ujx.2 + 3 316 c.116A>G c.(115-117)AAA>AGA p.K39R STEAP1_uc010lem.2_Missense_Mutation_p.K39R NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 39 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) AGCATGCTAAAAAGACCTGTG 0.408 NA 25 52 0 0 0.004656 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519846 113519846 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:113519846C>A uc010ljy.1 - 4 1332 c.1301G>T c.(1300-1302)AGC>ATC p.S434I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 434 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GACTTCTTTGCTGCCAGTATG 0.423 NA 50 54 6.03219e-31 1.33799e-30 0.00361 1 0 OPN1SW 611 broad.mit.edu 37 7 128413907 128413907 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:128413907C>G uc003vnt.3 - 4 723 c.723G>C c.(721-723)CAG>CAC p.Q241H NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 241 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 GTTCAGCCTTCTGGGTCGTAG 0.547 NA 24 25 0 0 0.005443 0 0 MKLN1 4289 broad.mit.edu 37 7 131113898 131113898 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:131113898A>T uc011kpm.1 + 9 1018 c.954A>T c.(952-954)GAA>GAT p.E318D MKLN1_uc011kpl.1_Missense_Mutation_p.E295D|MKLN1_uc010lmh.2_Missense_Mutation_p.E318D|MKLN1_uc003vqs.2_Missense_Mutation_p.E111D NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 318 Kelch 1. signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) GAGACACTGAAAAAGAGGCAA 0.413 NA 15 25 0 0 0.00245 0 0 OR9A4 130075 broad.mit.edu 37 7 141619371 141619371 + Silent SNP T T G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:141619371T>G uc003vwu.1 + 1 696 c.696T>G c.(694-696)TCT>TCG p.S232S NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CGTCATCCTCTGGCCGGAGGA 0.483 NA 31 59 0 0 0.002445 0 0 CLCN1 1180 broad.mit.edu 37 7 143029565 143029565 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:143029565C>A uc003wcr.1 + 11 1307 c.1220C>A c.(1219-1221)CCA>CAA p.P407Q CLCN1_uc011ktc.1_Missense_Mutation_p.P69Q NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 407 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTCACCTTCCCACCAGGAATG 0.483 NA 38 44 3.38236e-24 7.05221e-24 0.006999 1 0 CSMD1 64478 broad.mit.edu 37 8 2813272 2813272 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:2813272G>T uc011kwk.1 - 64 10226 c.9836C>A c.(9835-9837)CCA>CAA p.P3279Q CSMD1_uc011kwj.1_Missense_Mutation_p.P2608Q|CSMD1_uc010lrg.2_Missense_Mutation_p.P1170Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3279 Sushi 28.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGGGGTTTCTGGCTGTCTGCA 0.448 NA 53 39 1.54043e-34 3.49109e-34 0.00361 1 0 CSMD1 64478 broad.mit.edu 37 8 3000123 3000123 + Nonsense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:3000123G>T uc011kwk.1 - 41 6498 c.6108C>A c.(6106-6108)TAC>TAA p.Y2036* CSMD1_uc011kwj.1_Nonsense_Mutation_p.Y1428*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.Y104* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2036 Extracellular (Potential).|CUB 12. 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) GGCTGGTGTGGTAAGGTCCAT 0.438 NA 67 48 5.10652e-33 1.14485e-32 0.00361 1 0 MFHAS1 9258 broad.mit.edu 37 8 8748915 8748915 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:8748915G>A uc003wsj.1 - 1 2217 c.1654C>T c.(1654-1656)CTG>TTG p.L552L NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 552 Roc. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TGAATGTCCAGACATTTCTCC 0.657 Melanoma(103;1201 2045 17515 28966) NA 7 16 0 0 0.00308 0 0 VPS37A 137492 broad.mit.edu 37 8 17132344 17132344 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:17132344A>T uc003wxj.2 + 5 872 c.519A>T c.(517-519)TTA>TTT p.L173F VPS37A_uc003wxk.2_Missense_Mutation_p.L148F|VPS37A_uc003wxl.2_5'UTR NM_152415 NP_689628 Q8NEZ2 VP37A_HUMAN hepatocellular carcinoma related protein 1 173 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus 0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) TCACTTCTTTATCTGTTGCTG 0.438 NA 22 6 0 0 0.00278 0 0 DUSP26 78986 broad.mit.edu 37 8 33454976 33454976 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:33454976T>C uc003xjp.2 - 2 391 c.58A>G c.(58-60)AGT>GGT p.S20G DUSP26_uc003xjq.2_Missense_Mutation_p.S20G NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 20 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CTTGAGCTACTCCGGGAGAAG 0.552 NA 36 23 0 0 0.006999 0 0 PXDNL 137902 broad.mit.edu 37 8 52321891 52321891 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:52321891G>T uc003xqu.3 - 17 2394 c.2293C>A c.(2293-2295)CGC>AGC p.R765S PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 765 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCGAGCCCGCGGGGCGCGCGG 0.786 NA 6 2 0.00116845 0.00162957 0.001168 1 0 CHD7 55636 broad.mit.edu 37 8 61748737 61748737 + Missense_Mutation SNP T T A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:61748737T>A uc003xue.2 + 16 4361 c.3884T>A c.(3883-3885)ATT>AAT p.I1295N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1295 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTAGTGCTGATTGACAAGCTG 0.473 NA 15 22 0 0 0.003163 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619931 77619931 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:77619931C>T uc003yav.2 + 3 3050 c.2663C>T c.(2662-2664)TCT>TTT p.S888F ZFHX4_uc003yat.1_Missense_Mutation_p.S888F|ZFHX4_uc003yau.1_Missense_Mutation_p.S914F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S888F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 888 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) AAATTCACCTCTGACAGCCTG 0.522 NA HNSCC(33;0.089) 29 15 0 0 0.001786 0 0 RAD21 5885 broad.mit.edu 37 8 117874162 117874162 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:117874162C>G uc003yod.2 - 4 580 c.292G>C c.(292-294)GAG>CAG p.E98Q NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 98 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CGATTTTCCTCAGGCAGGTCA 0.388 NA 10 25 0 0 0.000978 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921057 5921057 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:5921057C>T uc003zjq.3 - 8 5155 c.4939G>A c.(4939-4941)GCA>ACA p.A1647T KIAA2026_uc010mht.2_Missense_Mutation_p.A822T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1647 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ACTGCTCTTGCTGAAGAAACC 0.423 NA 19 31 0 0 0.006122 0 0 PTPRD 5789 broad.mit.edu 37 9 8518092 8518092 + Silent SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:8518092G>A uc003zkk.2 - 20 2010 c.1299C>T c.(1297-1299)ACC>ACT p.T433T PTPRD_uc003zkp.2_Silent_p.T433T|PTPRD_uc003zkq.2_Silent_p.T433T|PTPRD_uc003zkr.2_Silent_p.T427T|PTPRD_uc003zks.2_Silent_p.T423T|PTPRD_uc003zkl.2_Silent_p.T433T|PTPRD_uc003zkm.2_Silent_p.T420T|PTPRD_uc003zkn.2_Silent_p.T433T|PTPRD_uc003zko.2_Silent_p.T430T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 433 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTACCAAAATGGTGGTCGAAC 0.507 NA TSP Lung(15;0.13) 42 72 0 0 0.00874 0 0 TAF1L 138474 broad.mit.edu 37 9 32633465 32633466 + Nonsense_Mutation DNP CC CC AA TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:32633465_32633466CC>AA uc003zrg.1 - 1 2202_2203 c.2112_2113GG>TT c.(2110-2115)GAGGAA>GATTAA p.704_705EE>D* uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 704_705 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGTCCATTTTCCTCACTATATT 0.431 NA 31 54 0 0 0.004672 0 0 GADD45G 10912 broad.mit.edu 37 9 92220729 92220729 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:92220729G>T uc004aqq.2 + 3 413 c.303G>T c.(301-303)CTG>CTT p.L101L GADD45G_uc004aqr.2_Silent_p.L83L NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 101 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 TGCAGCGGCTGGCGGCTATCG 0.652 Colon(131;320 2336 18973 23919) NA 10 12 0.00621372 0.00855155 0.006214 1 0 ZNF367 195828 broad.mit.edu 37 9 99160522 99160522 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:99160522G>T uc004awf.2 - 2 850 c.495C>A c.(493-495)AGC>AGA p.S165R ZNF367_uc004awg.2_Missense_Mutation_p.S165R NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 165 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) AACGGATTCTGCTGGATGAAT 0.408 NA 40 73 4.67007e-22 9.54616e-22 0.00874 1 0 C9orf84 158401 broad.mit.edu 37 9 114470151 114470151 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:114470151C>T uc004bfr.2 - 17 2485 c.2350G>A c.(2350-2352)GAA>AAA p.E784K C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E745K|C9orf84_uc010mug.2_Missense_Mutation_p.E695K NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 784 ovary(2) 2 AAAACACCTTCAGATTCCAGA 0.214 NA 10 103 0 0 0.000978 0 0 PTGS1 5742 broad.mit.edu 37 9 125145816 125145816 + Nonsense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:125145816C>A uc004bmg.1 + 8 926 c.791C>A c.(790-792)TCG>TAG p.S264* PTGS1_uc011lys.1_Nonsense_Mutation_p.S239*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.S155*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.S264*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.S155*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.S155* NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 264 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TACCCGCCCTCGGTAGAAGAG 0.612 NA 15 13 4.7546e-09 7.89908e-09 0.004007 1 0 DENND1A 57706 broad.mit.edu 37 9 126144289 126144289 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:126144289G>A uc004bnz.1 - 22 2685 c.2452C>T c.(2452-2454)CCC>TCC p.P818S DENND1A_uc011lzl.1_Missense_Mutation_p.P636S|DENND1A_uc004bny.1_Missense_Mutation_p.P600S|DENND1A_uc011lzm.1_Missense_Mutation_p.P829S|DENND1A_uc010mwh.1_Missense_Mutation_p.P239S NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 818 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 CCTGCAGGGGGGAAGCTGAAT 0.672 NA 5 13 0 0 0.000602 0 0 LRSAM1 90678 broad.mit.edu 37 9 130257628 130257628 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:130257628G>T uc004brb.1 + 22 1974 c.1629G>T c.(1627-1629)AGG>AGT p.R543S LRSAM1_uc010mxk.1_Missense_Mutation_p.R516S|LRSAM1_uc004brc.1_Missense_Mutation_p.R543S|LRSAM1_uc004brd.1_Missense_Mutation_p.R543S|LRSAM1_uc004bre.1_Missense_Mutation_p.R123S|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_5'UTR NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 543 Potential. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GTGAAACCAGGCAGGAAAATT 0.453 NA 12 19 2.80697e-09 4.70084e-09 0.000978 1 0 TOR1A 1861 broad.mit.edu 37 9 132576287 132576287 + Silent SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:132576287C>A uc004byl.2 - 5 1040 c.963G>T c.(961-963)ACG>ACT p.T321T TOR1A_uc004bym.2_RNA NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 321 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) TGGTGAACACCGTTTTGCAGC 0.438 NA 20 27 5.03518e-11 8.85937e-11 0.007413 1 0 PNPLA4 8228 broad.mit.edu 37 X 7889850 7889850 + Silent SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:7889850C>T uc011mhq.1 - 4 477 c.315G>A c.(313-315)GAG>GAA p.E105E PNPLA4_uc011mhr.1_Silent_p.E105E|PNPLA4_uc011mhs.1_Silent_p.E18E NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 105 Patatin. lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) TCTGGGCCAGCTCGTGAGCGC 0.443 NA 11 22 0 0 0.008291 0 0 AMELX 265 broad.mit.edu 37 X 11316772 11316772 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:11316772C>A uc004cut.2 + 5 317 c.249C>A c.(247-249)CAC>CAA p.H83Q ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.H97Q|AMELX_uc004cuu.2_Missense_Mutation_p.H67Q NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 83 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 AGCCTCATCACCACATCCCAG 0.602 NA 50 74 1.46357e-32 3.26369e-32 0.00361 1 0 GPM6B 2824 broad.mit.edu 37 X 13795473 13795473 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:13795473C>T uc004cvz.2 - 5 940 c.649G>A c.(649-651)GAG>AAG p.E217K GPM6B_uc004cvx.2_Missense_Mutation_p.E198K|GPM6B_uc011min.1_Missense_Mutation_p.E131K|GPM6B_uc004cwa.2_Missense_Mutation_p.E198K|GPM6B_uc004cvw.2_Missense_Mutation_p.E257K|GPM6B_uc011mim.1_Missense_Mutation_p.E231K|GPM6B_uc004cvy.2_Missense_Mutation_p.E257K NM_005278 NP_005269 Q13491 GPM6B_HUMAN glycoprotein M6B isoform 3 217 cell differentiation|nervous system development integral to membrane 0 GAGTTTACCTCGTTTGTGTTG 0.433 NA 5 28 0 0 0.000602 0 0 MOSPD2 158747 broad.mit.edu 37 X 14915307 14915307 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:14915307G>T uc004cwi.2 + 5 512 c.424G>T c.(424-426)GGG>TGG p.G142W MOSPD2_uc004cwj.2_Missense_Mutation_p.G79W NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 142 CRAL-TRIO. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) GAGGGAAAATGGGAAACCTGT 0.378 NA 34 55 6.97489e-18 1.36551e-17 0.004878 1 0 ZFX 7543 broad.mit.edu 37 X 24197628 24197628 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:24197628G>T uc004dbf.2 + 4 645 c.387G>T c.(385-387)ATG>ATT p.M129I ZFX_uc004dbd.1_Missense_Mutation_p.M129I|ZFX_uc010nfx.1_Intron|ZFX_uc004dbe.2_Missense_Mutation_p.M129I|ZFX_uc011mjv.1_Missense_Mutation_p.M168I|ZFX_uc010nfy.1_Missense_Mutation_p.M129I NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 CAATGTCTATGCCAGAACACG 0.348 Esophageal Squamous(20;306 562 7346 32868 37983) NA 83 133 3.89792e-41 8.88216e-41 0.00361 1 0 RBM10 8241 broad.mit.edu 37 X 47045157 47045157 + Nonsense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:47045157G>T uc004dhf.2 + 21 2777 c.2398G>T c.(2398-2400)GAG>TAG p.E800* RBM10_uc004dhg.2_Nonsense_Mutation_p.E722*|RBM10_uc004dhh.2_Nonsense_Mutation_p.E799*|RBM10_uc010nhq.2_Nonsense_Mutation_p.E723*|RBM10_uc004dhi.2_Nonsense_Mutation_p.E865* NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 800 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 GTCAGAAAACGAGCTAGAAGC 0.572 Melanoma(171;120 2705 19495 39241) NA 8 13 1.11149e-13 2.04181e-13 0.008291 1 0 TBC1D25 4943 broad.mit.edu 37 X 48418002 48418002 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:48418002G>T uc004dka.1 + 6 817 c.706G>T c.(706-708)GTG>TTG p.V236L TBC1D25_uc011mly.1_Missense_Mutation_p.V178L|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.V240L|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 236 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 CCCTGGGCAGGTGGTGTGGCG 0.567 NA 11 15 0.000978159 0.00136877 0.000978 1 0 OTUD5 55593 broad.mit.edu 37 X 48781242 48781242 + Silent SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:48781242G>T uc004dlu.2 - 7 1427 c.1366C>A c.(1366-1368)CGG>AGG p.R456R OTUD5_uc004dlt.3_Silent_p.R451R|OTUD5_uc004dlv.2_Silent_p.R451R|OTUD5_uc011mmp.1_Silent_p.R234R NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 456 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 GCTGAACTCCGCTGCCGCGGG 0.637 NA 7 13 2.0095e-06 3.04713e-06 0.001984 1 0 RIBC1 158787 broad.mit.edu 37 X 53457342 53457342 + Splice_Site SNP A A G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:53457342A>G uc004dsk.2 + 7 817 c.664_splice c.e7-2 p.A222_splice RIBC1_uc011mog.1_Splice_Site_p.A107_splice NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 isoform 1 0 GGGCTCCACCAGGCAGCTGTG 0.587 NA 12 10 0 0 0.001368 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524388 73524388 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:73524388G>T uc004ebs.3 + 1 364 c.287G>T c.(286-288)AGA>ATA p.R96I NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 96 CCHC-type 4. nucleic acid binding|zinc ion binding 0 ACCTGCGGCAGACTAGGACAT 0.517 NA 34 39 2.48696e-23 5.13397e-23 0.003271 1 0 BRWD3 254065 broad.mit.edu 37 X 79932688 79932688 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:79932688C>A uc004edt.2 - 41 5092 c.4829G>T c.(4828-4830)GGA>GTA p.G1610V BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1206V|BRWD3_uc004edp.2_Missense_Mutation_p.G1439V|BRWD3_uc004edq.2_Missense_Mutation_p.G1206V|BRWD3_uc010nmj.1_Missense_Mutation_p.G1206V|BRWD3_uc004edr.2_Missense_Mutation_p.G1280V|BRWD3_uc004eds.2_Missense_Mutation_p.G1206V|BRWD3_uc004edu.2_Missense_Mutation_p.G1280V|BRWD3_uc004edv.2_Missense_Mutation_p.G1206V|BRWD3_uc004edw.2_Missense_Mutation_p.G1206V|BRWD3_uc004edx.2_Missense_Mutation_p.G1206V|BRWD3_uc004edy.2_Missense_Mutation_p.G1206V|BRWD3_uc004edz.2_Missense_Mutation_p.G1280V|BRWD3_uc004eea.2_Missense_Mutation_p.G1280V|BRWD3_uc004eeb.2_Missense_Mutation_p.G1206V|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1610 ovary(4) 4 TAAACTGGATCCTAACTCTCC 0.299 NA 43 57 9.14704e-12 1.6441e-11 0.00874 1 0 POU3F4 5456 broad.mit.edu 37 X 82763435 82763435 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:82763435C>A uc004eeg.2 + 1 167 c.103C>A c.(103-105)CAG>AAG p.Q35K NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 35 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CCGCAACCCTCAGAAACTTCT 0.597 NA 9 16 3.09899e-07 4.78621e-07 0.004482 1 0 POU3F4 5456 broad.mit.edu 37 X 82764250 82764251 + Nonsense_Mutation DNP GG GG TT TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:82764250_82764251GG>TT uc004eeg.2 + 1 982_983 c.918_919GG>TT c.(916-921)CAGGAG>CATTAG p.306_307QE>H* NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 306_307 Homeobox. sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CTGCCGCGCAGGAGATCTCCTC 0.569 NA 13 7 0 0 0.004672 0 0 TEX13B 56156 broad.mit.edu 37 X 107224606 107224606 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:107224606G>T uc004enn.1 - 3 736 c.643C>A c.(643-645)CAG>AAG p.Q215K NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 215 ovary(1) 1 CCCAGCCCCTGCAAGACCTCT 0.597 NA 51 152 6.08268e-21 1.22535e-20 0.00361 1 0 NKRF 55922 broad.mit.edu 37 X 118724577 118724577 + Missense_Mutation SNP C C G TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:118724577C>G uc004erq.2 - 2 1464 c.811G>C c.(811-813)GTA>CTA p.V271L NKRF_uc004err.2_Missense_Mutation_p.V271L NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 271 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 AAGAGTTTTACAGCTAGCTCT 0.453 NA 49 64 0 0 0.00361 0 0 SOX3 6658 broad.mit.edu 37 X 139586865 139586865 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:139586865C>A uc004fbd.1 - 1 361 c.361G>T c.(361-363)GGC>TGC p.G121C NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 121 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) CTGCTGCCGCCGCCCGAGTTC 0.726 NA 10 12 0.00621372 0.00855155 0.006214 1 0 FMR1 2332 broad.mit.edu 37 X 147011469 147011469 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:147011469G>T uc010nst.2 + 6 611 c.422G>T c.(421-423)TGT>TTT p.C141F FMR1_uc011mwz.1_Missense_Mutation_p.C141F|FMR1_uc004fcj.2_Missense_Mutation_p.C141F|FMR1_uc004fck.3_Missense_Mutation_p.C141F|FMR1_uc004fcl.3_Missense_Mutation_p.C2F|FMR1_uc011mxa.1_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 141 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) atttCTAGGTGTGCCAAAGAG 0.323 NA Fragile_X_syndrome 14 16 9.31168e-06 1.39175e-05 0.001855 1 0 AFF2 2334 broad.mit.edu 37 X 147743891 147743891 + Missense_Mutation SNP T T C TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:147743891T>C uc004fcp.2 + 3 1122 c.643T>C c.(643-645)TCT>CCT p.S215P AFF2_uc004fco.2_Missense_Mutation_p.S211P|AFF2_uc004fcq.2_Missense_Mutation_p.S211P|AFF2_uc004fcr.2_Missense_Mutation_p.S211P|AFF2_uc011mxb.1_Missense_Mutation_p.S215P|AFF2_uc004fcs.2_Missense_Mutation_p.S211P NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 215 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GTCAAACCCATCTGCAAAGGA 0.453 NA 9 222 0 0 0.004482 0 0 CNGA2 1260 broad.mit.edu 37 X 150912084 150912084 + Missense_Mutation SNP A A T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:150912084A>T uc004fey.1 + 7 1333 c.1109A>T c.(1108-1110)AAT>ATT p.N370I NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 370 Helical; Name=H5; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATCGTGGGAAATGTGGGCTCC 0.512 NA 48 60 0 0 0.00361 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092682 151092682 + Nonsense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:151092682C>A uc004fez.2 + 3 702 c.546C>A c.(544-546)TGC>TGA p.C182* MAGEA4_uc004ffa.2_Nonsense_Mutation_p.C182*|MAGEA4_uc004ffb.2_Nonsense_Mutation_p.C182*|MAGEA4_uc004ffc.2_Nonsense_Mutation_p.C182*|MAGEA4_uc004ffd.2_Nonsense_Mutation_p.C182* NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 182 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTGTCACCTGCCTGGGCCTTT 0.532 NA 64 89 7.05995e-25 1.4794e-24 0.00361 1 0 PNMA5 114824 broad.mit.edu 37 X 152159340 152159340 + Missense_Mutation SNP G G T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:152159340G>T uc010ntw.2 - 3 1142 c.803C>A c.(802-804)CCC>CAC p.P268H PNMA5_uc004fha.3_Missense_Mutation_p.P268H|PNMA5_uc010ntx.2_Missense_Mutation_p.P268H|PNMA5_uc004fgy.3_Missense_Mutation_p.P268H NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 268 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CTGCAGCAGGGGCTCTAAGCG 0.537 NA 21 46 1.22574e-08 1.99661e-08 0.002299 1 0 DUSP9 1852 broad.mit.edu 37 X 152914840 152914840 + Missense_Mutation SNP C C A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:152914840C>A uc004fhx.3 + 3 731 c.527C>A c.(526-528)TCC>TAC p.S176Y DUSP9_uc004fhy.3_Missense_Mutation_p.S176Y NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 176 inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATGCGGAATCCGAGGCTGAC 0.701 NA 21 16 2.89027e-11 5.12869e-11 0.002299 1 0 FUNDC2 65991 broad.mit.edu 37 X 154261779 154261779 + Missense_Mutation SNP G G A TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chrX:154261779G>A uc004fmw.2 + 2 385 c.235G>A c.(235-237)GAA>AAA p.E79K NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 79 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACCTTCAGCAGAAAAGTATAG 0.463 NA 6 127 0 0 0.001984 0 0 MSH4 4438 broad.mit.edu 37 1 76347047 76347047 + Frame_Shift_Del DEL C C - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:76347047delC uc001dhd.1 + 14 1939 c.1898delC c.(1897-1899)TCTfs p.S633fs NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 633 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TGCACTCTTTCTGACTATGGT 0.299 NA MMR 29 31 --- --- --- --- NA NA NA NA NA TCHH 7062 broad.mit.edu 37 1 152079960 152079960 + Frame_Shift_Del DEL C C - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr1:152079960delC uc001ezp.2 - 2 5733 c.5733delG c.(5731-5733)CGGfs p.R1911fs TCHH_uc009wne.1_Frame_Shift_Del_p.R1911fs NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1911 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCCAGAAGCCGCCCATGGC 0.567 NA 35 122 --- --- --- --- NA NA NA NA NA GAS2 2620 broad.mit.edu 37 11 22747844 22747844 + Frame_Shift_Del DEL C C - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr11:22747844delC uc009yie.2 + 4 580 c.274delC c.(274-276)CCGfs p.P92fs GAS2_uc001mqm.2_Frame_Shift_Del_p.P92fs|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Frame_Shift_Del_p.P92fs NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 92 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TCAGAATCTACCGTTGAAGAA 0.383 NA 23 37 --- --- --- --- NA NA NA NA NA ADNP2 22850 broad.mit.edu 37 18 77895677 77895681 + Frame_Shift_Del DEL TGGGG TGGGG - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 TGGGG TGGGG - - TGGGG TGGGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr18:77895677_77895681delTGGGG uc002lnw.2 + 4 2836_2840 c.2381_2385delTGGGG c.(2380-2385)CTGGGGfs p.L794fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 794_795 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AATAGGCACCTGGGGAAGAAGAAGT 0.459 NA 24 76 --- --- --- --- NA NA NA NA NA NEB 4703 broad.mit.edu 37 2 152512848 152512870 + Frame_Shift_Del DEL TTTTTCTTGTACTCCCGATCAGA TTTTTCTTGTACTCCCGATCAGA - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 TTTTTCTTGTACTCCCGATCAGA TTTTTCTTGTACTCCCGATCAGA - - TTTTTCTTGTACTCCCGATCAGA TTTTTCTTGTACTCCCGATCAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr2:152512848_152512870delTTTTTCTTGTACTCCCGATCAGA uc010fnx.2 - 49 6483_6505 c.6292_6314delTCTGATCGGGAGTACAAGAAAAA c.(6292-6315)TCTGATCGGGAGTACAAGAAAAACfs p.S2098fs NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2098_2105 Nebulin 55. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTTCTCATAGTTTTTCTTGTACTCCCGATCAGATTGCATCTTA 0.466 NA 17 94 --- --- --- --- NA NA NA NA NA TAF4 6874 broad.mit.edu 37 20 60581656 60581656 + Frame_Shift_Del DEL G G - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr20:60581656delG uc002ybs.2 - 7 2133 c.2133delC c.(2131-2133)GCCfs p.A711fs NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 711 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGGTCACGGTGGCCGCCGTCT 0.721 NA 7 9 --- --- --- --- NA NA NA NA NA ZIC4 84107 broad.mit.edu 37 3 147114028 147114028 + Frame_Shift_Del DEL C C - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr3:147114028delC uc003ewd.1 - 3 572 c.299delG c.(298-300)GGCfs p.G100fs ZIC4_uc003ewc.1_Frame_Shift_Del_p.G30fs|ZIC4_uc011bno.1_Frame_Shift_Del_p.G150fs NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 100 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CAGGTTCATGCCCCCGTAGCC 0.687 NA 14 16 --- --- --- --- NA NA NA NA NA C7orf51 222950 broad.mit.edu 37 7 100084609 100084609 + Frame_Shift_Del DEL G G - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr7:100084609delG uc003uvd.1 + 3 393 c.234delG c.(232-234)ATGfs p.M78fs C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 78 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGCGCCATGGCCCCACGCT 0.721 NA 5 8 --- --- --- --- NA NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113694670 113694671 + Splice_Site DEL CC CC - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr8:113694670_113694671delCC uc003ynu.2 - 16 2836 c.2677_splice c.e16+1 p.A893_splice CSMD3_uc003yns.2_Splice_Site_p.A165_splice|CSMD3_uc003ynt.2_Splice_Site_p.A853_splice|CSMD3_uc011lhx.1_Splice_Site_p.A789_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 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 ACTACACTTACCTCCACATTTT 0.351 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 77 --- --- --- --- NA NA NA NA NA FAM75C1 441452 broad.mit.edu 37 9 90537868 90537868 + Frame_Shift_Del DEL G G - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:90537868delG uc010mqi.2 + 4 3075 c.3046delG c.(3046-3048)GGAfs p.G1016fs FAM75C1_uc004apq.3_Frame_Shift_Del_p.G999fs NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 AAGCCACTTTGGAGAAAACAT 0.428 NA 23 21 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 9 90744923 90744923 + Frame_Shift_Del DEL C C - TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 199bbb0f-996c-40c1-b06d-2066f04be778 3f4bced4-f89a-43d2-9c5f-6f9683897fa7 g.chr9:90744923delC uc011lti.1 - 4 3058 c.3029delG c.(3028-3030)GGAfs p.G1010fs uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA GATGTTTTCTCCAAAGTGGCT 0.433 NA 36 202 --- --- --- --- NA NA NA NA NA