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 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 isArtifactMode oxoGCut AGRN 375790 broad.mit.edu 37 1 979269 979269 + Missense_Mutation SNP G G T rs140789461 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:979269G>T uc001ack.1 + 10 1915 c.1865G>T c.(1864-1866)CGG>CTG p.R622L NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 622 Kazal-like 7. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GTGTGTCCCCGGTGTGAGCAC 0.682 NA 6 51 3.6e-05 4.07e-05 1 0 TAS1R3 83756 broad.mit.edu 37 1 1267466 1267466 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:1267466C>A uc010nyk.1 + 3 555 c.555C>A c.(553-555)CGC>CGA p.R185R NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 185 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCTTCTTCCGCACCGTGCCCA 0.682 NA 35 70 7.04e-22 9.98e-22 1 0 SPEN 23013 broad.mit.edu 37 1 16255029 16255029 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:16255029G>A uc001axk.1 + 11 2498 c.2294G>A c.(2293-2295)AGC>AAC p.S765N SPEN_uc010obp.1_Missense_Mutation_p.S724N NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 765 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CGGAGTGGAAGCTGTAGCTCA 0.498 NA 21 93 0 0 0 0 RUNX3 864 broad.mit.edu 37 1 25254161 25254161 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:25254161C>A uc001bjq.2 - 2 754 c.343G>T c.(343-345)GAG>TAG p.E115* RUNX3_uc010oen.1_Nonsense_Mutation_p.E115*|RUNX3_uc009vrj.2_Nonsense_Mutation_p.E129*|RUNX3_uc001bjr.2_Nonsense_Mutation_p.E129* NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 115 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GAGTAGTTCTCGTCATTGCCT 0.627 NA 78 203 1.41e-23 2.02e-23 1 0 YTHDF2 51441 broad.mit.edu 37 1 29095450 29095450 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:29095450G>A uc001brc.2 + 5 2223 c.1726G>A c.(1726-1728)GGT>AGT p.G576S YTHDF2_uc001brd.2_Missense_Mutation_p.G573S|YTHDF2_uc010ofx.1_Missense_Mutation_p.G526S|YTHDF2_uc001bre.2_Missense_Mutation_p.G526S NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 576 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GGAACGTCAAGGTCGTGGGAA 0.343 NA 8 63 0 0 0 0 PHC2 1912 broad.mit.edu 37 1 33832992 33832992 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:33832992G>A uc001bxg.1 - 6 755 c.701C>T c.(700-702)GCG>GTG p.A234V PHC2_uc001bxh.1_Missense_Mutation_p.A205V|PHC2_uc009vuh.1_Missense_Mutation_p.A234V|PHC2_uc001bxi.1_Missense_Mutation_p.A234V NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 234 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGCTGCTGCCGCTGGTGTCTG 0.622 NA OREG0013344 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 153 0 0 0 0 DLGAP3 58512 broad.mit.edu 37 1 35350638 35350638 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:35350638G>C uc001byc.2 - 6 1941 c.1941C>G c.(1939-1941)ACC>ACG p.T647T NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 647 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) TCCTGTTCTCGGTGTCCGAAT 0.607 NA 33 68 0 0 0 0 CSF3R 1441 broad.mit.edu 37 1 36933736 36933736 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:36933736C>G uc001caw.1 - 13 1841 c.1663G>C c.(1663-1665)GGG>CGG p.G555R CSF3R_uc001cat.1_Missense_Mutation_p.G118R|CSF3R_uc009vvc.1_Missense_Mutation_p.G84R|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.G555R|CSF3R_uc001cax.1_Missense_Mutation_p.G555R|CSF3R_uc001cay.1_Missense_Mutation_p.G555R NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 555 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGGCTCTTCCCCAGCTCAGGG 0.592 NA 42 82 0 0 0 0 DMAP1 55929 broad.mit.edu 37 1 44685699 44685699 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:44685699G>A uc001clq.1 + 10 1142 c.1062G>A c.(1060-1062)CCG>CCA p.P354P DMAP1_uc001clr.1_Silent_p.P354P|DMAP1_uc001cls.1_Silent_p.P354P|DMAP1_uc010oku.1_Silent_p.P344P NM_001034024 NP_001029196 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 354 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding 0 Acute lymphoblastic leukemia(166;0.155) AGCTGAGCCCGACACCTACGG 0.622 NA 7 42 0 0 0 0 TTC39A 22996 broad.mit.edu 37 1 51768088 51768088 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:51768088C>A uc001csl.2 - 11 1045 c.940G>T c.(940-942)GGT>TGT p.G314C TTC39A_uc001csk.2_Missense_Mutation_p.G279C|TTC39A_uc010ond.1_Missense_Mutation_p.G251C|TTC39A_uc010one.1_Missense_Mutation_p.G278C|TTC39A_uc010onf.1_Missense_Mutation_p.G282C|TTC39A_uc001csn.2_Missense_Mutation_p.G313C|TTC39A_uc001cso.1_Missense_Mutation_p.G310C|TTC39A_uc009vyy.1_Missense_Mutation_p.G251C NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 314 binding skin(1) 1 AAGATGGCACCCTGCAATGAC 0.592 NA 3 23 2.56e-06 2.97e-06 1 0 DAB1 1600 broad.mit.edu 37 1 57528566 57528566 + Missense_Mutation SNP T T A rs148730065 by1000genomes TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:57528566T>A uc001cys.1 - 11 1388 c.714A>T c.(712-714)CAA>CAT p.Q238H DAB1_uc001cyt.1_Missense_Mutation_p.Q238H|DAB1_uc001cyq.1_Missense_Mutation_p.Q203H|DAB1_uc001cyr.1_Missense_Mutation_p.Q119H|DAB1_uc009vzw.1_Missense_Mutation_p.Q203H|DAB1_uc009vzx.1_Missense_Mutation_p.Q238H NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 238 cell differentiation|nervous system development skin(2)|ovary(1) 3 CACTTACAGGTTGACTTTTTG 0.463 NA 24 90 0 0 0 0 C1orf87 127795 broad.mit.edu 37 1 60463339 60463339 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:60463339C>G uc001czs.1 - 11 1514 c.1422G>C c.(1420-1422)TGG>TGC p.W474C C1orf87_uc001czr.1_Missense_Mutation_p.W66C NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 474 calcium ion binding ovary(1)|breast(1) 2 ACCTGTCTATCCACGTCTCAC 0.468 NA 39 91 0 0 0 0 IL12RB2 3595 broad.mit.edu 37 1 67861485 67861485 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:67861485A>G uc001ddu.2 + 16 2942 c.2302A>G c.(2302-2304)AAG>GAG p.K768E IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.K682E|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 768 Cytoplasmic (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 GGATCTGTACAAGGTGCTGGA 0.582 NA 39 123 0 0 0 0 SERBP1 26135 broad.mit.edu 37 1 67891881 67891881 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:67891881C>A uc001ddv.2 - 2 541 c.401G>T c.(400-402)CGT>CTT p.R134L SERBP1_uc001ddx.2_Missense_Mutation_p.R134L|SERBP1_uc001ddy.2_Missense_Mutation_p.R134L|SERBP1_uc001ddw.2_Missense_Mutation_p.R134L NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 134 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 TCTTCGTTCACGAGGTGGTCG 0.358 NA 114 282 9.62e-41 1.45e-40 1 0 TNNI3K 51086 broad.mit.edu 37 1 74833001 74833001 + Silent SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:74833001T>C uc001dgf.1 + 12 1290 c.1239T>C c.(1237-1239)TGT>TGC p.C413C TNNI3K_uc001dgc.1_Silent_p.C514C|TNNI3K_uc001dgd.2_Silent_p.C514C|TNNI3K_uc001dge.1_Silent_p.C514C NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 413 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 AATTGCCCTGTAATGAATATT 0.358 NA 60 139 0 0 0 0 IFI44L 10964 broad.mit.edu 37 1 79093997 79093997 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:79093997G>T uc010oro.1 + 2 576 c.397G>T c.(397-399)GAT>TAT p.D133Y IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 133 cytoplasm 0 AATTTATCTAGATAAAATGAT 0.299 NA 15 42 2.32e-05 2.63e-05 1 0 OLFM3 118427 broad.mit.edu 37 1 102312602 102312602 + Splice_Site SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:102312602C>G uc001duf.2 - 1 1 c.-70_splice c.e1-1 OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Splice_Site NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GGAGGCGTGACTGCAGCGCGC 0.552 NA 11 38 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103381240 103381240 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:103381240C>A uc001dul.2 - 50 4081 c.3763G>T c.(3763-3765)GGT>TGT p.G1255C COL11A1_uc001duk.2_Missense_Mutation_p.G451C|COL11A1_uc001dum.2_Missense_Mutation_p.G1267C|COL11A1_uc001dun.2_Missense_Mutation_p.G1216C|COL11A1_uc009weh.2_Missense_Mutation_p.G1139C NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1255 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGTTCACCCTATATAGAG 0.353 NA 70 114 1.71e-16 2.32e-16 1 0 COL11A1 1301 broad.mit.edu 37 1 103488414 103488414 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:103488414C>A uc001dul.2 - 8 1447 c.1129G>T c.(1129-1131)GAT>TAT p.D377Y COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D389Y|COL11A1_uc001dun.2_Missense_Mutation_p.D338Y|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 377 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCGCCTAAATCTCCATCTACC 0.378 NA 28 139 4.88e-14 6.46e-14 1 0 NOTCH2 4853 broad.mit.edu 37 1 120462937 120462937 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:120462937G>C uc001eik.2 - 30 5650 c.5394C>G c.(5392-5394)GAC>GAG p.D1798E NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1798 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTACGGATGTCTGCAGCTT 0.557 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 50 86 0 0 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129588 150129588 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:150129588G>C uc001ett.2 + 5 711 c.433G>C c.(433-435)GAG>CAG p.E145Q PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_Intron|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 145 Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs). cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCACCGTTGAGGAGGACAG 0.557 NA 20 88 0 0 0 0 CLK2 1196 broad.mit.edu 37 1 155236610 155236610 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:155236610T>A uc001fjy.2 - 7 1038 c.748A>T c.(748-750)ACC>TCC p.T250S RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.T249S|CLK2_uc001fjx.2_Missense_Mutation_p.T22S|CLK2_uc009wqm.2_Missense_Mutation_p.T250S NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 250 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAATCGAAGGTGCTAAGGCCC 0.542 NA Other_conserved_DNA_damage_response_genes 37 70 0 0 0 0 SYT11 23208 broad.mit.edu 37 1 155851056 155851056 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:155851056G>A uc001fmg.2 + 4 1316 c.1053G>A c.(1051-1053)AAG>AAA p.K351K SYT11_uc010pgq.1_Silent_p.K44K NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 351 C2 2.|Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CCCATGTGAAGAAGTGCACTT 0.473 NA 95 646 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158582745 158582745 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:158582745G>T uc001fst.1 - 51 7195 c.6996C>A c.(6994-6996)GGC>GGA p.G2332G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2332 EF-hand 2.|2 (Potential). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTGAGACATAGCCCTTCCTGT 0.473 NA 33 71 9.78e-22 1.38e-21 1 0 OR6N1 128372 broad.mit.edu 37 1 158735613 158735613 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:158735613G>T uc010piq.1 - 1 860 c.860C>A c.(859-861)CCC>CAC p.P287H NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GTAGATGAAGGGGTTGAGGAA 0.522 NA 45 239 5.34e-22 7.58e-22 1 0 MAEL 84944 broad.mit.edu 37 1 166974632 166974632 + Silent SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:166974632A>T uc001gdy.1 + 8 914 c.843A>T c.(841-843)ACA>ACT p.T281T MAEL_uc001gdz.1_Silent_p.T250T|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 281 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 CTAGCAACACAAGGTATTGCT 0.373 NA 45 92 0 0 0 0 MAEL 84944 broad.mit.edu 37 1 166987197 166987197 + Splice_Site SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:166987197G>T uc001gdy.1 + 10 1112 c.1041_splice c.e10+1 p.Q347_splice MAEL_uc001gdz.1_Splice_Site_p.Q316_splice|MAEL_uc009wvf.1_Splice_Site NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 GCGTTACCAGGTAAGGAACTG 0.443 NA 44 100 5.24e-18 7.27e-18 1 0 DNM3 26052 broad.mit.edu 37 1 172357712 172357712 + Splice_Site SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:172357712G>T uc001gie.2 + 20 2462 c.2286_splice c.e20-1 p.R762_splice DNM3_uc001gif.2_Splice_Site_p.R758_splice|DNM3_uc001gih.1_Splice_Site_p.R118_splice NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TTTTTCCTCAGGTCACCTCCT 0.458 NA 20 52 1.56e-12 2.04e-12 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525640 176525640 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:176525640C>G uc001gkz.2 + 2 1346 c.182C>G c.(181-183)GCT>GGT p.A61G PAPPA2_uc001gky.1_Missense_Mutation_p.A61G|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 61 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGACCCAGAGCTTCTCCACAG 0.557 NA 100 216 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181727125 181727125 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:181727125C>T uc001gow.2 + 31 4537 c.4372C>T c.(4372-4374)CGC>TGC p.R1458C CACNA1E_uc009wxs.2_Missense_Mutation_p.R1346C|CACNA1E_uc001gox.1_Missense_Mutation_p.R684C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R684C NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1458 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ACCTCTCACCCGCTACATGCC 0.517 NA 30 135 0 0 0 0 LAMC2 3918 broad.mit.edu 37 1 183177137 183177137 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:183177137G>A uc001gqa.2 + 2 515 c.201G>A c.(199-201)AAG>AAA p.K67K LAMC2_uc001gpz.3_Silent_p.K67K|LAMC2_uc010poa.1_Translation_Start_Site NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 67 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 ACTGCGAGAAGTGCAAGAATG 0.498 NA 207 366 0 0 0 0 CACNA1S 779 broad.mit.edu 37 1 201061195 201061195 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:201061195G>A uc001gvv.2 - 4 673 c.446C>T c.(445-447)ACA>ATA p.T149I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 149 Extracellular (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CATTGGGGCTGTGTGGCTTTG 0.597 NA 49 74 0 0 0 0 NFASC 23114 broad.mit.edu 37 1 204923419 204923419 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:204923419G>T uc001hbj.2 + 6 647 c.319G>T c.(319-321)GGG>TGG p.G107W NFASC_uc001hbh.2_Missense_Mutation_p.G107W|NFASC_uc010pqz.1_Missense_Mutation_p.G101W|NFASC_uc010pra.1_Missense_Mutation_p.G101W|NFASC_uc001hbi.2_Missense_Mutation_p.G101W|NFASC_uc009xbg.1_Missense_Mutation_p.G174W|NFASC_uc010prb.1_Missense_Mutation_p.G101W|NFASC_uc010prc.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 107 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCGCAGTGGCGGGCGGCCGGA 0.582 NA 18 60 1.97e-08 2.4e-08 1 0 PROX1 5629 broad.mit.edu 37 1 214170736 214170736 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:214170736C>T uc001hkh.2 + 2 1130 c.858C>T c.(856-858)GCC>GCT p.A286A PROX1_uc001hkg.1_Silent_p.A286A NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 286 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCCTGGATGCCAGGGCCCAGG 0.502 NA 39 94 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214171345 214171345 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:214171345G>A uc001hkh.2 + 2 1739 c.1467G>A c.(1465-1467)ATG>ATA p.M489I PROX1_uc001hkg.1_Missense_Mutation_p.M489I NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 489 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TTCCCTTGATGGCCTATCCAT 0.602 NA 64 170 0 0 0 0 PTPN14 5784 broad.mit.edu 37 1 214551325 214551325 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:214551325T>A uc001hkk.1 - 14 2936 c.2665A>T c.(2665-2667)ACC>TCC p.T889S PTPN14_uc010pty.1_Missense_Mutation_p.T790S NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 889 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGAACCCGGGTGGCATCAACT 0.567 NA 42 94 0 0 0 0 HHIPL2 79802 broad.mit.edu 37 1 222700357 222700357 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:222700357C>A uc001hnh.1 - 7 1817 c.1759G>T c.(1759-1761)GCC>TCC p.A587S NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 587 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GGTGCATAGGCACTTGGGTAA 0.433 NA 19 37 3.62e-10 4.58e-10 1 0 RHOU 58480 broad.mit.edu 37 1 228879196 228879196 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:228879196G>T uc001htf.2 + 3 1107 c.486G>T c.(484-486)CAG>CAT p.Q162H NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 162 GTP. regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) TTGGAACGCAGTCGGATCTCA 0.527 NA 76 143 2.05e-37 3.07e-37 1 0 NID1 4811 broad.mit.edu 37 1 236154329 236154329 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:236154329G>T uc001hxo.2 - 14 2887 c.2785C>A c.(2785-2787)CAA>AAA p.Q929K NID1_uc009xgd.2_Missense_Mutation_p.Q796K|NID1_uc009xgc.2_Missense_Mutation_p.Q15K NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 929 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCAGGTCCTTGGTGAATCGGG 0.547 NA 22 29 9.86e-18 1.36e-17 1 0 RGS7 6000 broad.mit.edu 37 1 240964755 240964755 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:240964755C>G uc001hyv.2 - 17 1743 c.1413G>C c.(1411-1413)GTG>GTC p.V471V RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron|RGS7_uc001hyt.2_Silent_p.V303V NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 471 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTAAACTTACCACATTCTGTG 0.239 NA 3 40 0 0 0 0 CNST 163882 broad.mit.edu 37 1 246805333 246805333 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:246805333G>A uc001ibp.2 + 8 1309 c.931G>A c.(931-933)GAG>AAG p.E311K CNST_uc001ibo.3_Missense_Mutation_p.E311K NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 311 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 TACCACCAAAGAGTCAGGTAT 0.418 NA 8 32 0 0 0 0 OR6F1 343169 broad.mit.edu 37 1 247875544 247875544 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:247875544G>C uc001idj.1 - 1 514 c.514C>G c.(514-516)CGT>GGT p.R172G NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTGATGGCACGGGGGCCACAG 0.597 NA 49 146 0 0 0 0 OR2T4 127074 broad.mit.edu 37 1 248525300 248525300 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:248525300G>T uc001ieh.1 + 1 418 c.418G>T c.(418-420)GCA>TCA p.A140S NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 140 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGTGACACTAGCAGGTTCAGA 0.522 NA 53 277 4.45e-29 6.5e-29 1 0 OR2T3 343173 broad.mit.edu 37 1 248636987 248636987 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:248636987G>T uc001iel.1 + 1 336 c.336G>T c.(334-336)CTG>CTT p.L112L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTGACCCTGGCTGGAGCTG 0.547 NA 55 96 3.74e-36 5.59e-36 1 0 OR2T34 127068 broad.mit.edu 37 1 248737450 248737450 + Silent SNP G G T rs148163660 byFrequency TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:248737450G>T uc001iep.1 - 1 609 c.609C>A c.(607-609)CTC>CTA p.L203L NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGGTACGTGAGCATCTTAT 0.517 NA 68 324 6.09e-36 9.1e-36 1 0 OR14I1 401994 broad.mit.edu 37 1 248844884 248844884 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:248844884G>A uc001ieu.1 - 1 722 c.722C>T c.(721-723)CCC>CTC p.P241L NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AATGAGCTGGGGGGAGCAGGT 0.468 NA 47 124 0 0 0 0 DIP2C 22982 broad.mit.edu 37 10 394634 394634 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:394634G>A uc001ifp.2 - 26 3268 c.3178C>T c.(3178-3180)CCG>TCG p.P1060S DIP2C_uc009xhi.1_Missense_Mutation_p.P446S NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1060 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGTGGGTGCGGGGGACGGACG 0.542 NA 152 165 0 0 0 0 ASB13 79754 broad.mit.edu 37 10 5693182 5693182 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:5693182T>G uc001iig.2 - 3 420 c.376A>C c.(376-378)ATG>CTG p.M126L ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.M126L NM_024701 NP_078977 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box-containing protein 126 ANK 4. intracellular signal transduction protein binding ovary(1) 1 GBM - Glioblastoma multiforme(2;9.59e-09) TCACCGCTCATGCAGGCCTCG 0.612 NA 31 211 0 0 0 0 ITIH2 3698 broad.mit.edu 37 10 7773950 7773950 + Silent SNP G G A rs150260189 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:7773950G>A uc001ijs.2 + 13 1800 c.1638G>A c.(1636-1638)ACG>ACA p.T546T NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 546 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 GCGTTATCACGGCGACTTCGG 0.438 NA 14 148 0 0 0 0 PTER 9317 broad.mit.edu 37 10 16526679 16526679 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:16526679C>A uc001iog.1 + 3 503 c.296C>A c.(295-297)ACA>AAA p.T99K PTER_uc001ioh.1_Missense_Mutation_p.T99K|PTER_uc001ioi.1_Missense_Mutation_p.T99K|PTER_uc009xjp.1_Missense_Mutation_p.T99K NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 99 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 GTGGAAAACACAACCACTGGG 0.443 NA 15 104 1.15e-07 1.39e-07 1 0 CUBN 8029 broad.mit.edu 37 10 16955852 16955852 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:16955852C>A uc001ioo.2 - 48 7543 c.7491G>T c.(7489-7491)CTG>CTT p.L2497L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2497 CUB 18. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGCCAGCCTCAGGTTGTTAA 0.517 NA 43 261 2.01e-17 2.76e-17 1 0 CUBN 8029 broad.mit.edu 37 10 17032445 17032445 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:17032445G>T uc001ioo.2 - 29 4290 c.4238C>A c.(4237-4239)CCA>CAA p.P1413Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1413 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCCTTGTTTGGTGGATACCT 0.512 NA 24 143 3.67e-16 4.97e-16 1 0 VIM 7431 broad.mit.edu 37 10 17275622 17275622 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:17275622G>C uc001iou.2 + 4 1074 c.661G>C c.(661-663)GAA>CAA p.E221Q VIM_uc001iov.1_Missense_Mutation_p.E221Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E221Q|VIM_uc001ioy.1_Missense_Mutation_p.E221Q|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E221Q|VIM_uc001ipc.1_Missense_Mutation_p.E221Q NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 221 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TCTTGACCTTGAACGCAAAGT 0.423 NA 60 81 0 0 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250541 18250541 + Missense_Mutation SNP C C A rs150700069 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:18250541C>A uc001ipo.2 + 3 566 c.293C>A c.(292-294)GCT>GAT p.A98D SLC39A12_uc001ipn.2_Missense_Mutation_p.A98D|SLC39A12_uc001ipp.2_Missense_Mutation_p.A98D|SLC39A12_uc010qck.1_Translation_Start_Site NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 98 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTACTAATAGCTGGAGGAAAT 0.358 NA 89 84 6.32e-53 9.63e-53 1 0 MKX 283078 broad.mit.edu 37 10 28030397 28030397 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:28030397C>T uc001ity.3 - 3 450 c.225G>A c.(223-225)CGG>CGA p.R75R MKX_uc001itx.3_Silent_p.R75R NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 75 Homeobox; TALE-type. muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCAGGGCCTGCCGCTTGTGCC 0.662 NA 4 58 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29762806 29762806 + Silent SNP C C G rs139597633 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:29762806C>G uc001iut.1 - 30 6243 c.5490G>C c.(5488-5490)GCG>GCC p.A1830A LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.A744A|SVIL_uc001iuu.1_Silent_p.A1404A NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1830 Gelsolin-like 3. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CCGTCATCAGCGCCGACGTGC 0.647 NA 24 80 0 0 0 0 MAPK8 5599 broad.mit.edu 37 10 49632604 49632604 + Missense_Mutation SNP G G T rs139339988 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:49632604G>T uc009xnz.2 + 7 888 c.664G>T c.(664-666)GGT>TGT p.G222C MAPK8_uc001jgl.2_Missense_Mutation_p.G222C|MAPK8_uc001jgm.2_Missense_Mutation_p.G222C|MAPK8_uc001jgo.2_Missense_Mutation_p.G222C|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.G222C|MAPK8_uc010qgk.1_Missense_Mutation_p.G222C|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 222 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GATCAAAGGTGGTGTTTTGTT 0.343 NA 73 103 9.1e-53 1.39e-52 1 0 RTKN2 219790 broad.mit.edu 37 10 63964747 63964747 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:63964747T>C uc001jlw.2 - 10 1152 c.1055A>G c.(1054-1056)AAG>AGG p.K352R RTKN2_uc009xpf.1_Missense_Mutation_p.K154R|RTKN2_uc001jlv.2_Missense_Mutation_p.K6R NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 352 PH. signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) GATTCTTTTCTTGGCATCCTT 0.348 NA 30 77 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967944 64967944 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:64967944T>A uc001jmn.2 - 10 3785 c.3485A>T c.(3484-3486)AAG>ATG p.K1162M JMJD1C_uc001jml.2_Missense_Mutation_p.K943M|JMJD1C_uc001jmm.2_Missense_Mutation_p.K874M|JMJD1C_uc010qiq.1_Missense_Mutation_p.K980M|JMJD1C_uc009xpi.2_Missense_Mutation_p.K980M|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.K199M NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1162 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTCTGGTATCTTGCCTACTAA 0.393 NA 83 147 0 0 0 0 LRIT2 340745 broad.mit.edu 37 10 85984691 85984691 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:85984691C>G uc001kcy.2 - 2 298 c.290G>C c.(289-291)GGA>GCA p.G97A LRIT2_uc010qmc.1_Missense_Mutation_p.G97A NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 97 LRR 1. integral to membrane ovary(2) 2 TTCCAGGGCTCCTAGGTGGAT 0.517 NA 58 168 0 0 0 0 RGR 5995 broad.mit.edu 37 10 86014184 86014184 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:86014184G>T uc001kdc.1 + 5 653 c.615G>T c.(613-615)AAG>AAT p.K205N RGR_uc001kdd.1_Missense_Mutation_p.K209N|RGR_uc001kde.1_Missense_Mutation_p.K205N NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 205 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 AACTGGGGAAGAGTGGCCATC 0.363 NA 18 77 2.35e-11 3.02e-11 1 0 CYP2C18 1562 broad.mit.edu 37 10 96495160 96495160 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:96495160C>A uc001kjv.3 + 9 1758 c.1432C>A c.(1432-1434)CGT>AGT p.R478S CYP2C18_uc001kjw.3_Missense_Mutation_p.R419S|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 478 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R478L(1) ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGCATTTGGTCGTGTGCCACC 0.478 NA 41 155 1.32e-16 1.8e-16 1 0 ZDHHC16 84287 broad.mit.edu 37 10 99215802 99215802 + Splice_Site SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:99215802G>C uc001knj.2 + 11 1368 c.1019_splice c.e11+1 p.R340_splice ZDHHC16_uc001knp.2_Splice_Site_p.R270_splice|ZDHHC16_uc001knk.2_Splice_Site_p.R340_splice|ZDHHC16_uc001knl.2_Splice_Site_p.R324_splice|ZDHHC16_uc001knm.2_Splice_Site_p.R259_splice|ZDHHC16_uc001knn.2_Splice_Site_p.R301_splice|ZDHHC16_uc010qow.1_Splice_Site_p.R322_splice|ZDHHC16_uc009xvq.2_Splice_Site|ZDHHC16_uc001kno.2_Splice_Site_p.R306_splice|ZDHHC16_uc009xvr.2_Splice_Site_p.R331_splice NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Abl-philin 2 isoform 1 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) ATACAGGAAGGTAATGTAAGA 0.438 NA 14 58 0 0 0 0 HPSE2 60495 broad.mit.edu 37 10 100219421 100219421 + Silent SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:100219421A>T uc001kpn.1 - 12 1749 c.1689T>A c.(1687-1689)CTT>CTA p.L563L HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Silent_p.L495L|HPSE2_uc009xwd.1_Silent_p.L441L NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 563 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GGCCGGCCCGAAGGGGGCGGG 0.557 NA 14 40 0 0 0 0 DNMBP 23268 broad.mit.edu 37 10 101658519 101658519 + Splice_Site SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:101658519T>C uc001kqj.2 - 8 2795 c.2703_splice c.e8-1 p.K901_splice DNMBP_uc010qpl.1_5'Flank|DNMBP_uc001kqg.2_Splice_Site_p.K189_splice|DNMBP_uc001kqh.2_Splice_Site_p.K533_splice NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TATAGGCTCCTGCAAGGCAGT 0.368 NA 42 120 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106675638 106675638 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:106675638G>A uc001kyi.1 + 3 970 c.743G>A c.(742-744)GGT>GAT p.G248D NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 248 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) GACAAAGTGGGTTTGAAGACT 0.468 NA 26 73 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108389039 108389039 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:108389039G>T uc001kym.2 - 19 2591 c.2583C>A c.(2581-2583)AAC>AAA p.N861K SORCS1_uc001kyl.2_Missense_Mutation_p.N861K|SORCS1_uc009xxs.2_Missense_Mutation_p.N861K|SORCS1_uc001kyn.1_Missense_Mutation_p.N861K|SORCS1_uc001kyo.2_Missense_Mutation_p.N861K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 861 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAATGCCCACGTTCTGATAGA 0.493 NA 28 30 2.49e-11 3.2e-11 1 0 ATRNL1 26033 broad.mit.edu 37 10 117486770 117486770 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:117486770G>T uc001lcg.2 + 27 4194 c.3808G>T c.(3808-3810)GAA>TAA p.E1270* ATRNL1_uc010qsm.1_Nonsense_Mutation_p.E399*|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1270 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACTGCTTCGAGAACGACAGCA 0.438 NA 25 42 2.13e-12 2.77e-12 1 0 MKI67 4288 broad.mit.edu 37 10 129901414 129901414 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr10:129901414T>A uc001lke.2 - 13 8885 c.8690A>T c.(8689-8691)GAT>GTT p.D2897V MKI67_uc001lkf.2_Missense_Mutation_p.D2537V|MKI67_uc009yav.1_Missense_Mutation_p.D2472V|MKI67_uc009yaw.1_Missense_Mutation_p.D2047V NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2897 16 X 122 AA approximate repeats.|16. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCCAATTACATCTTCTGCGTC 0.557 NA 67 264 0 0 0 0 PKP3 11187 broad.mit.edu 37 11 404053 404053 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:404053G>A uc001lpc.2 + 11 2264 c.2188G>A c.(2188-2190)GTG>ATG p.V730M NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 730 ARM 8. V -> G (in Ref. 3; BAD97231). cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAACCTGGTGGTGGCCAGCCC 0.612 NA 35 128 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1271606 1271606 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:1271606C>A uc009ycr.1 + 51 15041 c.14915C>A c.(14914-14916)TCC>TAC p.S4972Y MUC5B_uc001ltb.2_Missense_Mutation_p.S4502Y NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4499 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTCCCTCCTCCAGTCCAGGG 0.642 NA 77 119 3.71e-27 5.4e-27 1 0 ART1 417 broad.mit.edu 37 11 3681086 3681086 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:3681086G>A uc001lye.1 + 3 438 c.337G>A c.(337-339)GAG>AAG p.E113K ART1_uc009yeb.1_Missense_Mutation_p.E113K NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 113 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CTTCCGCGATGAGCATGGGGT 0.682 NA 14 40 0 0 0 0 OR52W1 120787 broad.mit.edu 37 11 6220867 6220867 + Silent SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:6220867T>A uc010qzz.1 + 1 414 c.414T>A c.(412-414)CCT>CCA p.P138P NM_001005178 NP_001005178 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCACTACCCTGTCCTGGTCA 0.537 NA 13 75 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6661920 6661920 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:6661920C>G uc001mem.1 - 2 1335 c.925G>C c.(925-927)GCA>CCA p.A309P NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 309 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCGTGTGTGCGTCGATGGAG 0.607 NA 38 81 0 0 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789752 6789752 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:6789752G>T uc001meq.1 - 1 437 c.437C>A c.(436-438)GCC>GAC p.A146D NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCAGGATGTGGCCACCATGAT 0.507 NA 42 58 6.08e-31 8.94e-31 1 0 PTH 5741 broad.mit.edu 37 11 13513984 13513984 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:13513984C>T uc001mlb.2 - 3 431 c.316G>A c.(316-318)GTG>ATG p.V106M NM_000315 NP_000306 P01270 PTHY_HUMAN parathyroid hormone preproprotein 106 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) AATACATTCACATCAGCTTTG 0.428 NA 14 81 0 0 0 0 SOX6 55553 broad.mit.edu 37 11 16071443 16071443 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:16071443G>C uc001mme.2 - 11 1365 c.1332C>G c.(1330-1332)CCC>CCG p.P444P SOX6_uc001mmd.2_Silent_p.P393P|SOX6_uc001mmf.2_Silent_p.P390P|SOX6_uc001mmg.2_Silent_p.P431P NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 431 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 CTGCTGTCTTGGGTCGGGATG 0.463 NA 156 299 0 0 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673942 20673942 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:20673942C>T uc001mqd.2 + 15 2451 c.2178C>T c.(2176-2178)GTC>GTT p.V726V SLC6A5_uc009yic.2_Silent_p.V491V NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 726 Helical; Name=12; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) CCTGTTCCGTCATCTGGATCC 0.473 NA 49 267 0 0 0 0 SLC17A6 57084 broad.mit.edu 37 11 22387106 22387106 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:22387106G>T uc001mqk.2 + 7 1175 c.762G>T c.(760-762)ATG>ATT p.M254I NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 254 Helical; (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 GCTTTGGAATGGTCTGGTACA 0.398 NA 40 130 4.92e-23 7.02e-23 1 0 SLC17A6 57084 broad.mit.edu 37 11 22397537 22397537 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:22397537T>G uc001mqk.2 + 10 1597 c.1184T>G c.(1183-1185)ATG>AGG p.M395R NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 395 Helical; (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 GGTTTTGGCATGGAAGCCACA 0.393 NA 52 90 0 0 0 0 DCDC1 341019 broad.mit.edu 37 11 31327905 31327905 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:31327905C>A uc001msv.2 - 5 667 c.465G>T c.(463-465)CAG>CAT p.Q155H DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 155 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TCCGGGCTGACTGAAATTTTA 0.333 NA 14 46 1.5e-05 1.71e-05 1 0 OR5I1 10798 broad.mit.edu 37 11 55703542 55703542 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:55703542G>T uc010ris.1 - 1 335 c.335C>A c.(334-336)ACA>AAA p.T112K NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAAGGATTCTGTATCTGCAAA 0.438 NA 33 26 3.9e-15 5.22e-15 1 0 OR5J2 282775 broad.mit.edu 37 11 55944458 55944458 + Missense_Mutation SNP G G T rs151315491 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:55944458G>T uc010rjb.1 + 1 365 c.365G>T c.(364-366)CGC>CTC p.R122L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GCCTATGACCGCTATGTGGCC 0.453 NA 71 68 1.56e-33 2.31e-33 1 0 OR5T1 390155 broad.mit.edu 37 11 56043301 56043301 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:56043301G>T uc001nio.1 + 1 187 c.187G>T c.(187-189)GGG>TGG p.G63W NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 63 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) ACCGATCATTGGGGATTTCTG 0.363 NA 23 74 1.5e-11 1.94e-11 1 0 OR5M3 219482 broad.mit.edu 37 11 56237387 56237387 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:56237387G>A uc010rjk.1 - 1 587 c.587C>T c.(586-588)ACA>ATA p.T196I NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TATGATCATTGTATATTCTTT 0.408 NA 91 84 0 0 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995542 57995542 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:57995542G>T uc010rkd.1 - 1 806 c.806C>A c.(805-807)TCC>TAC p.S269Y NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) TGAGGTGCTGGACCGAGGACG 0.602 NA 26 31 4.72e-08 5.73e-08 1 0 C11orf48 79081 broad.mit.edu 37 11 62437249 62437249 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:62437249C>G uc001nue.2 - 3 612 c.177G>C c.(175-177)CCG>CCC p.P59P C11orf48_uc001nuf.2_Silent_p.P59P|C11orf48_uc010rmd.1_Silent_p.P59P|C11orf83_uc001nui.3_5'Flank NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 85 0 CCACAATAGACGGCAGATGGG 0.537 NA 41 161 0 0 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751493 62751493 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:62751493G>A uc001nwk.2 - 2 703 c.396C>T c.(394-396)GCC>GCT p.A132A SLC22A6_uc001nwl.2_Silent_p.A132A|SLC22A6_uc001nwj.2_Silent_p.A132A|SLC22A6_uc001nwm.2_Silent_p.A132A NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 132 Extracellular (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GCTGGCGTAGGGCCCTGTGAG 0.617 NA 19 18 0 0 0 0 SHANK2 22941 broad.mit.edu 37 11 70505947 70505947 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:70505947C>A uc001oqc.2 - 14 2125 c.2047G>T c.(2047-2049)GAC>TAC p.D683Y SHANK2_uc010rqn.1_Missense_Mutation_p.D95Y|SHANK2_uc001opz.2_Missense_Mutation_p.D95Y|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.D95Y NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 304 PDZ. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ATCAAGAAGTCCCCGGTCCTT 0.587 NA 8 35 7.48e-07 8.86e-07 1 0 INPPL1 3636 broad.mit.edu 37 11 71942179 71942179 + Nonsense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:71942179G>A uc001osf.2 + 12 1590 c.1443G>A c.(1441-1443)TGG>TGA p.W481* INPPL1_uc001osg.2_Nonsense_Mutation_p.W239* NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 481 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 ACCGCGAGTGGCTGGACCTAC 0.617 NA 158 263 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 84996411 84996411 + Splice_Site SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:84996411T>A uc001pak.2 - 4 353 c.41_splice c.e4-1 p.D14_splice NM_001142699 NP_001136171 Q15700 DLG2_HUMAN chapsyn-110 isoform 1 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTTGGATATCTGTAAAGAAAA 0.313 NA 25 77 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92498219 92498219 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:92498219C>A uc001pdj.3 + 5 4176 c.4159C>A c.(4159-4161)CAG>AAG p.Q1387K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1387 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGTGTCTGTGCAGCCAGCTAA 0.423 NA TCGA Ovarian(4;0.039) 8 27 0.00307968 0.00326572 1 0 IGSF9B 22997 broad.mit.edu 37 11 133790286 133790286 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr11:133790286G>A uc001qgx.3 - 18 3565 c.3334C>T c.(3334-3336)CCT>TCT p.P1112S NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1112 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTGGGACAGGGCCCCTGCCG 0.682 NA 5 59 0 0 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995443 1995443 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:1995443G>T uc001qjp.2 - 8 1170 c.939C>A c.(937-939)ACC>ACA p.T313T CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 313 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGGTGGTGATGGTGTGCTTGG 0.473 NA 11 79 7.04e-09 8.68e-09 1 0 CHD4 1108 broad.mit.edu 37 12 6690915 6690915 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:6690915G>C uc001qpo.2 - 31 4745 c.4581C>G c.(4579-4581)AAC>AAG p.N1527K CHD4_uc001qpn.2_Missense_Mutation_p.N1520K|CHD4_uc001qpp.2_Missense_Mutation_p.N1552K|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1527 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACATCTTCTTGTTTTCCTCCA 0.547 NA 54 193 0 0 0 0 LRRC23 10233 broad.mit.edu 37 12 7016479 7016479 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:7016479G>A uc001qrt.3 + 5 883 c.491G>A c.(490-492)GGG>GAG p.G164E LRRC23_uc001qrn.1_Missense_Mutation_p.G164E|LRRC23_uc001qrp.2_Missense_Mutation_p.G164E|LRRC23_uc001qrq.2_Missense_Mutation_p.G164E|LRRC23_uc001qrr.2_Missense_Mutation_p.G113E|LRRC23_uc001qrs.2_Missense_Mutation_p.G113E|LRRC23_uc009zfh.2_Intron NM_001135217 NP_001128689 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 isoform a 164 LRR 4. ovary(1) 1 TCCTCCCCAGGGAACAGCATC 0.547 NA 118 187 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20769239 20769239 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:20769239G>T uc001reh.1 + 4 1367 c.1345G>T c.(1345-1347)GGT>TGT p.G449C NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 449 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTCGGCCACAGGTCTACCCAC 0.562 NA 73 102 5.02e-34 7.48e-34 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21375295 21375295 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:21375295C>T uc001req.3 + 13 1848 c.1744C>T c.(1744-1746)CTA>TTA p.L582L NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 582 Helical; Name=11; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TATACGAGCACTAGGTATGAT 0.204 NA 22 69 0 0 0 0 MCRS1 10445 broad.mit.edu 37 12 49952509 49952509 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:49952509C>T uc001ruk.1 - 15 1497 c.1306G>A c.(1306-1308)GCC>ACC p.A436T MCRS1_uc001rui.1_Missense_Mutation_p.A449T|MCRS1_uc001ruj.1_Missense_Mutation_p.A423T|MCRS1_uc001rul.1_Missense_Mutation_p.A436T|MCRS1_uc009zlj.1_Missense_Mutation_p.A245T|MCRS1_uc001rum.1_Missense_Mutation_p.A423T NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 436 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 CGCAGGCTGGCGATCTGGGTG 0.577 NA 41 79 0 0 0 0 KRT2 3849 broad.mit.edu 37 12 53045402 53045402 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:53045402C>T uc001sat.2 - 1 558 c.525G>A c.(523-525)AAG>AAA p.K175K NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 175 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) GCTCTTGGGCCTTCACATTCT 0.532 NA 62 156 0 0 0 0 KIF5A 3798 broad.mit.edu 37 12 57974825 57974825 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:57974825G>A uc001sor.1 + 24 2833 c.2625G>A c.(2623-2625)CTG>CTA p.L875L KIF5A_uc010srr.1_Silent_p.L786L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 875 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TTAAGGCCCTGGAGGGTGCAC 0.572 NA 19 49 0 0 0 0 AVPR1A 552 broad.mit.edu 37 12 63544528 63544528 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:63544528C>G uc001sro.1 - 1 2063 c.89G>C c.(88-90)CGG>CCG p.R30P NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 30 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCGGCCTCCCGGCTTGTGTT 0.706 NA 23 91 0 0 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77216208 77216208 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:77216208C>A uc001syk.1 + 8 957 c.794C>A c.(793-795)GCA>GAA p.A265E ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 265 Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 CTTGATTTGGCAAAACAGAGA 0.363 NA 19 46 1.98e-07 2.38e-07 1 0 NAV3 89795 broad.mit.edu 37 12 78444924 78444924 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:78444924G>C uc001syp.2 + 11 2686 c.2513G>C c.(2512-2514)AGT>ACT p.S838T NAV3_uc001syo.2_Missense_Mutation_p.S838T|NAV3_uc010sub.1_Missense_Mutation_p.S338T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 838 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GACATCAACAGTGGGTAAGTA 0.453 NA HNSCC(70;0.22) 32 66 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81610681 81610681 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:81610681G>T uc001szl.1 + 10 1447 c.1356G>T c.(1354-1356)GAG>GAT p.E452D ACSS3_uc001szm.1_Missense_Mutation_p.E451D|ACSS3_uc001szn.1_Missense_Mutation_p.E134D NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 452 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTTTTCCAGAGACTGGATCTC 0.408 NA 20 92 8.05e-18 1.11e-17 1 0 MRPL42 28977 broad.mit.edu 37 12 93873224 93873224 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:93873224G>C uc001tcr.2 + 4 353 c.195G>C c.(193-195)GTG>GTC p.V65V MRPL42_uc001tcq.2_Silent_p.V65V|MRPL42_uc001tcs.2_Silent_p.V65V|MRPL42_uc001tct.2_RNA NM_172177 NP_751917 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 isoform a 65 translation mitochondrial small ribosomal subunit structural constituent of ribosome ovary(2) 2 ACCCTTCTGTGGACATTCCAT 0.328 NA 33 68 0 0 0 0 SLC41A2 84102 broad.mit.edu 37 12 105260337 105260337 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:105260337G>T uc001tla.2 - 6 1215 c.1048C>A c.(1048-1050)CCA>ACA p.P350T NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 350 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCAACTAATGGAGAAATGTAG 0.343 NA 40 71 4.92e-23 7.02e-23 1 0 BTBD11 121551 broad.mit.edu 37 12 108051315 108051315 + Nonsense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:108051315T>A uc001tmk.1 + 17 3656 c.3135T>A c.(3133-3135)TAT>TAA p.Y1045* BTBD11_uc001tml.1_Nonsense_Mutation_p.Y582*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Y124* NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 1045 integral to membrane DNA binding skin(2)|ovary(1) 3 TCTCAGCATATTGCGAAGGCT 0.463 NA 33 66 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 118198938 118198938 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:118198938C>T uc001two.2 - 4 832 c.777G>A c.(775-777)CCG>CCA p.P259P NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 288 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGGGTCCCCGGGGGCTTCA 0.682 NA 70 425 0 0 0 0 ACADS 35 broad.mit.edu 37 12 121175737 121175737 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:121175737G>C uc001tza.3 + 5 688 c.570G>C c.(568-570)TGG>TGC p.W190C ACADS_uc010szl.1_Intron|ACADS_uc001tzb.3_Missense_Mutation_p.W117C NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 190 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CCAATGCCTGGGAGGCTTCGG 0.642 NA 29 82 0 0 0 0 PITPNM2 57605 broad.mit.edu 37 12 123494588 123494588 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:123494588T>A uc001uej.1 - 5 591 c.452A>T c.(451-453)AAC>ATC p.N151I PITPNM2_uc001uek.1_Missense_Mutation_p.N151I|PITPNM2_uc009zxu.1_Missense_Mutation_p.N151I NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 151 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CTTATACTCGTTGTGGGGCAC 0.557 NA 91 197 0 0 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138491 126138491 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:126138491G>A uc001uhe.1 + 9 2480 c.2472G>A c.(2470-2472)CAG>CAA p.Q824Q TMEM132B_uc001uhf.1_Silent_p.Q336Q NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 824 Extracellular (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) AAGGAAACCAGGAGAGAGCAG 0.502 NA 32 111 0 0 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24233278 24233278 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:24233278G>A uc001uov.1 + 6 599 c.535G>A c.(535-537)GCC>ACC p.A179T TNFRSF19_uc001uot.2_Missense_Mutation_p.A179T|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A47T|TNFRSF19_uc001uow.2_Missense_Mutation_p.A179T NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 179 Helical; (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) CAGCGCTCTGGCCACCGTCCT 0.552 NA 28 45 0 0 0 0 ATP12A 479 broad.mit.edu 37 13 25262596 25262596 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:25262596C>T uc001upp.2 + 4 555 c.368C>T c.(367-369)GCC>GTC p.A123V ATP12A_uc010aaa.2_Missense_Mutation_p.A123V NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 123 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TGGGTGGGCGCCTTTCTCTGT 0.572 NA 241 406 0 0 0 0 NUPL1 9818 broad.mit.edu 37 13 25901160 25901160 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:25901160A>G uc001uqi.2 + 11 1384 c.1138A>G c.(1138-1140)ATA>GTA p.I380V NUPL1_uc001uqg.1_Missense_Mutation_p.I380V|NUPL1_uc001uqj.2_Missense_Mutation_p.I368V NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 380 14 X 2 AA repeats of F-G.|Potential. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TAATTCACATATAACCCCTCA 0.363 NA 35 126 0 0 0 0 ATP8A2 51761 broad.mit.edu 37 13 26413696 26413696 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:26413696C>T uc001uqk.2 + 30 3032 c.2890C>T c.(2890-2892)CAC>TAC p.H964Y ATP8A2_uc010tdi.1_Missense_Mutation_p.H899Y|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.H514Y NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 924 Helical; (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TTTCTGGGGTCACTGCATCAA 0.498 NA 26 202 0 0 0 0 KATNAL1 84056 broad.mit.edu 37 13 30784522 30784522 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:30784522T>A uc001uss.2 - 10 1306 c.1205A>T c.(1204-1206)GAT>GTT p.D402V KATNAL1_uc001ust.2_Missense_Mutation_p.D402V NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 402 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) CAGTTGAATATCAGGATCTAA 0.378 NA 22 113 0 0 0 0 USPL1 10208 broad.mit.edu 37 13 31233367 31233367 + Silent SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:31233367A>G uc001utc.2 + 9 3585 c.3153A>G c.(3151-3153)TTA>TTG p.L1051L USPL1_uc001utd.2_Silent_p.L722L|USPL1_uc001ute.1_Silent_p.L722L NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 1051 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TTAGAACATTAAACTTGGAGA 0.398 NA 29 120 0 0 0 0 PDS5B 23047 broad.mit.edu 37 13 33344509 33344509 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:33344509G>T uc010abf.2 + 32 4033 c.3875G>T c.(3874-3876)CGA>CTA p.R1292L PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1292 A.T hook 2. cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AAAAGAGGCCGACCACCAAAA 0.418 NA 9 41 7.48e-07 8.86e-07 1 0 NBEA 26960 broad.mit.edu 37 13 35733576 35733576 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:35733576G>C uc001uvb.2 + 23 3474 c.3268G>C c.(3268-3270)GTG>CTG p.V1090L NBEA_uc010abi.2_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1090 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGTGCCCTTGTGGAGGTTGA 0.383 NA 11 41 0 0 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049804 36049804 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:36049804C>T uc001uvc.2 - 1 1029 c.472G>A c.(472-474)GTG>ATG p.V158M NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 158 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CTCAGTTTCACTTCGCTGGTG 0.572 NA 35 56 0 0 0 0 DCLK1 9201 broad.mit.edu 37 13 36700076 36700076 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:36700076G>T uc001uvf.2 - 2 432 c.199C>A c.(199-201)CGA>AGA p.R67R NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 67 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TTGAAGTATCGATCTCCGTTT 0.547 NA 29 124 8.58e-18 1.19e-17 1 0 NEK5 341676 broad.mit.edu 37 13 52650229 52650229 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:52650229A>T uc001vge.2 - 19 1838 c.1698T>A c.(1696-1698)AGT>AGA p.S566R NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 566 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTGGATTTTTACTTTCCTTTG 0.348 NA 24 42 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208417 58208417 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:58208417C>T uc001vhq.1 + 1 2629 c.1737C>T c.(1735-1737)AAC>AAT p.N579N PCDH17_uc010aec.1_Silent_p.N579N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 579 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGAATGACAACGCGCCAGTGA 0.642 NA 11 69 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101844272 101844272 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:101844272G>T uc001vox.1 - 14 1949 c.1760C>A c.(1759-1761)ACT>AAT p.T587N NALCN_uc001voy.2_Missense_Mutation_p.T302N|NALCN_uc001voz.2_Missense_Mutation_p.T587N|NALCN_uc001vpa.2_Missense_Mutation_p.T587N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 587 Helical; Name=S6 of repeat II; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACTCACCAGAGTGGCAAAAAG 0.393 NA 19 18 1.56e-14 2.07e-14 1 0 FAM155A 728215 broad.mit.edu 37 13 107862932 107862932 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr13:107862932C>T uc001vql.2 - 2 1603 c.1087G>A c.(1087-1089)GGG>AGG p.G363R NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 363 integral to membrane binding skin(1) 1 GGCACTGTACCTGTACAGATG 0.458 NA 29 51 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20248711 20248711 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:20248711C>A uc010tku.1 + 1 230 c.230C>A c.(229-231)ACA>AAA p.T77K NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTCCATTACAGCCCCTAAA 0.438 NA 208 590 2.46e-77 3.77e-77 1 0 OR4K2 390431 broad.mit.edu 37 14 20344521 20344521 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:20344521C>T uc001vwh.1 + 1 95 c.95C>T c.(94-96)TCA>TTA p.S32L NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGGTGTTTTCATTGCTTTAT 0.413 NA 188 525 0 0 0 0 TMEM55B 90809 broad.mit.edu 37 14 20928404 20928404 + Nonsense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:20928404A>T uc001vxl.2 - 3 540 c.387T>A c.(385-387)TGT>TGA p.C129* TMEM55B_uc001vxk.2_Nonsense_Mutation_p.C136* NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 129 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) AGATAAGGAGACAGTTACAGG 0.493 NA 10 89 0 0 0 0 SUPT16H 11198 broad.mit.edu 37 14 21831310 21831310 + Splice_Site SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:21831310T>G uc001wao.2 - 13 1735 c.1396_splice c.e13-1 p.N466_splice NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CATTTCATTCTGGTGAATGGA 0.388 NA 39 163 0 0 0 0 C14orf119 55017 broad.mit.edu 37 14 23567116 23567116 + Silent SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:23567116T>C uc001wiu.2 + 2 291 c.249T>C c.(247-249)TCT>TCC p.S83S ACIN1_uc001wit.3_5'Flank|ACIN1_uc010akg.2_5'Flank|ACIN1_uc010tnj.1_5'Flank NM_017924 NP_060394 Q9NWQ9 CN119_HUMAN chromosome 14 open reading frame 119 83 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00649) TTAGTGTGTCTGGGGCAGACC 0.527 NA 41 167 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30066838 30066838 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:30066838C>T uc001wqh.2 - 16 2474 c.2293G>A c.(2293-2295)GAC>AAC p.D765N NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 765 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GACCACATGTCTAGAGAGCGA 0.493 NA 34 157 0 0 0 0 KIAA0586 9786 broad.mit.edu 37 14 58917324 58917324 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:58917324G>A uc001xdv.3 + 8 1262 c.989G>A c.(988-990)AGT>AAT p.S330N KIAA0586_uc010trr.1_Missense_Mutation_p.S371N|KIAA0586_uc001xdt.3_Missense_Mutation_p.S286N|KIAA0586_uc001xdu.3_Missense_Mutation_p.S315N|KIAA0586_uc010trs.1_Missense_Mutation_p.S245N|KIAA0586_uc010trt.1_Missense_Mutation_p.S190N|KIAA0586_uc010tru.1_Missense_Mutation_p.S190N NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 330 ovary(1) 1 GAAGATACGAGTTTTGATAAA 0.328 NA 16 33 0 0 0 0 DCAF5 8816 broad.mit.edu 37 14 69529205 69529205 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:69529205C>G uc001xkp.2 - 8 1189 c.970G>C c.(970-972)GGA>CGA p.G324R DCAF5_uc001xkq.2_Missense_Mutation_p.G323R NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 324 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 ATGAAGGCTCCGTTGACCACC 0.413 NA 12 93 0 0 0 0 ZNF410 57862 broad.mit.edu 37 14 74371737 74371737 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:74371737G>A uc001xoz.1 + 7 1046 c.864G>A c.(862-864)AAG>AAA p.K288K ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_Silent_p.K19K|ZNF410_uc010tuh.1_Silent_p.K215K|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Silent_p.K305K|ZNF410_uc001xpa.1_Silent_p.K92K|ZNF410_uc001xpb.1_Silent_p.K288K|ZNF410_uc001xpc.1_Silent_p.K235K|ZNF410_uc010tuj.1_Silent_p.K92K NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 288 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) GCTGTGGTAAGCAGTTTACTA 0.527 NA 24 97 0 0 0 0 C14orf145 145508 broad.mit.edu 37 14 81259118 81259118 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:81259118C>T uc001xux.2 - 13 1717 c.1546G>A c.(1546-1548)GGC>AGC p.G516S C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 516 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TTATTCTTGCCTGTCAGTTCA 0.383 NA 39 212 0 0 0 0 ZC3H14 79882 broad.mit.edu 37 14 89041109 89041109 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:89041109G>T uc001xww.2 + 7 1159 c.934G>T c.(934-936)GGA>TGA p.G312* ZC3H14_uc010twd.1_Nonsense_Mutation_p.G312*|ZC3H14_uc010twe.1_Nonsense_Mutation_p.G312*|ZC3H14_uc001xwx.2_Nonsense_Mutation_p.G312*|ZC3H14_uc010twf.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xwy.2_Nonsense_Mutation_p.G278*|ZC3H14_uc010twg.1_Nonsense_Mutation_p.G157*|ZC3H14_uc001xxa.2_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 312 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 CAATCATGATGGAGAAGAGGA 0.413 NA 10 55 0.000442599 0.000482734 1 0 CCDC88C 440193 broad.mit.edu 37 14 91763774 91763774 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:91763774C>T uc010aty.2 - 22 3940 c.3841G>A c.(3841-3843)GAG>AAG p.E1281K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1281 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GTTTTCAGCTCCTTGGTGTGG 0.547 NA 5 6 0 0 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958015 92958015 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:92958015G>T uc001yak.2 + 15 1517 c.1493G>T c.(1492-1494)GGG>GTG p.G498V SLC24A4_uc001yai.2_Missense_Mutation_p.G451V|SLC24A4_uc010twm.1_Missense_Mutation_p.G496V|SLC24A4_uc001yaj.2_Missense_Mutation_p.G479V|SLC24A4_uc010auj.2_Missense_Mutation_p.G387V|SLC24A4_uc010twn.1_Missense_Mutation_p.G271V|SLC24A4_uc001yan.2_Missense_Mutation_p.G209V NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 515 Cytoplasmic (Potential).|Alpha-2. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GCAGGCCTTGGGGACATGGCA 0.478 NA 28 67 8.58e-18 1.19e-17 1 0 SLC24A4 123041 broad.mit.edu 37 14 92958081 92958081 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:92958081C>A uc001yak.2 + 15 1583 c.1559C>A c.(1558-1560)CCG>CAG p.P520Q SLC24A4_uc001yai.2_Missense_Mutation_p.P473Q|SLC24A4_uc010twm.1_Missense_Mutation_p.P518Q|SLC24A4_uc001yaj.2_Missense_Mutation_p.P501Q|SLC24A4_uc010auj.2_Missense_Mutation_p.P409Q|SLC24A4_uc010twn.1_Missense_Mutation_p.P293Q|SLC24A4_uc001yan.2_Missense_Mutation_p.P231Q NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 537 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CTTGGTGTACCGTGGGGCCTG 0.483 NA 34 93 6.71e-13 8.8e-13 1 0 SERPINA3 12 broad.mit.edu 37 14 95080961 95080961 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:95080961C>A uc001ydp.2 + 2 262 c.183C>A c.(181-183)TAC>TAA p.Y61* SERPINA3_uc001ydo.3_Nonsense_Mutation_p.Y86*|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc001yds.2_Nonsense_Mutation_p.Y61*|SERPINA3_uc010avg.2_Nonsense_Mutation_p.Y61* NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 61 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TCAGCCTGTACAAGCAGTTAG 0.557 NA 80 127 1.43e-34 2.13e-34 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102453804 102453804 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:102453804G>T uc001yks.2 + 9 2717 c.2553G>T c.(2551-2553)CTG>CTT p.L851L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 851 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 ATGATCTGCTGATCATTGAAG 0.353 NA 21 61 7.45e-12 9.65e-12 1 0 TDRD9 122402 broad.mit.edu 37 14 104474748 104474748 + Splice_Site SNP A A C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:104474748A>C uc001yom.3 + 20 2083 c.2053_splice c.e20-2 p.D685_splice TDRD9_uc001yon.3_Splice_Site_p.D423_splice NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATATATTTAAAGGATGAACTT 0.264 NA 32 57 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408280 105408280 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr14:105408280T>C uc010axc.1 - 7 13628 c.13508A>G c.(13507-13509)CAG>CGG p.Q4503R AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4403R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4503 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGGTCCCCCTGCATGGAGGG 0.597 NA 42 211 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22382673 22382673 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:22382673C>A uc001yuc.1 + 7 1182 c.201C>A c.(199-201)GCC>GCA p.A67A LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GCAACTTGGCCTTCCTGGATG 0.483 NA 25 499 1.46e-29 2.14e-29 1 0 C15orf2 23742 broad.mit.edu 37 15 24921726 24921726 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:24921726G>C uc001ywo.2 + 1 1186 c.712G>C c.(712-714)GCC>CCC p.A238P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 238 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGAAGGCCCTGCCATGCCCAG 0.622 NA 24 40 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25959218 25959218 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:25959218G>A uc010ayu.2 - 10 2053 c.1947C>T c.(1945-1947)GGC>GGT p.G649G NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 649 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGAGAAGCATGCCGTCGCTGG 0.677 NA 22 43 0 0 0 0 FMN1 342184 broad.mit.edu 37 15 33261044 33261044 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:33261044G>T uc001zhf.3 - 4 2189 c.2189C>A c.(2188-2190)CCC>CAC p.P730H NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 953 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GGGAGGTGGGGGTGCAAGTCC 0.522 NA 26 56 4.27e-12 5.54e-12 1 0 ACTC1 70 broad.mit.edu 37 15 35085611 35085611 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:35085611G>C uc001ziu.1 - 3 532 c.289C>G c.(289-291)CGT>GGT p.R97G uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 97 R -> C (in CMH11). apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GGAGCCACACGGAGCTCATTG 0.562 NA 72 119 0 0 0 0 MEIS2 4212 broad.mit.edu 37 15 37388489 37388489 + Splice_Site SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:37388489C>A uc001zjr.2 - 3 1424 c.387_splice c.e3+1 p.Q129_splice MEIS2_uc001zjl.2_Splice_Site_p.Q116_splice|MEIS2_uc010ucj.1_Splice_Site_p.Q116_splice|MEIS2_uc001zjm.2_Splice_Site_p.Q41_splice|MEIS2_uc001zjn.2_Intron|MEIS2_uc001zjo.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjp.2_Splice_Site_p.Q129_splice|MEIS2_uc001zjs.2_Splice_Site_p.Q129_splice|MEIS2_uc001zju.2_Splice_Site_p.Q116_splice|MEIS2_uc001zjt.2_Splice_Site_p.Q129_splice NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GAAGGCTGGACCTGCTTGGCG 0.607 NA 4 24 0.00024832 0.000272669 1 0 C15orf33 196951 broad.mit.edu 37 15 49869035 49869035 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:49869035C>A uc001zxl.2 - 7 743 c.449G>T c.(448-450)AGC>ATC p.S150I C15orf33_uc001zxm.2_Missense_Mutation_p.S150I NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 150 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TCCTGTGAAGCTGCAACCCTA 0.328 NA 18 27 3.53e-06 4.07e-06 1 0 UNC13C 440279 broad.mit.edu 37 15 54307972 54307972 + Nonsense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:54307972C>T uc002ack.2 + 1 2872 c.2872C>T c.(2872-2874)CAG>TAG p.Q958* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 958 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CATTCCTGAACAGCCAGTGGA 0.403 NA 4 21 0 0 0 0 IQCH 64799 broad.mit.edu 37 15 67652185 67652185 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:67652185G>T uc002aqo.1 + 8 762 c.715G>T c.(715-717)GGG>TGG p.G239W IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Missense_Mutation_p.G66W|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 239 skin(3)|ovary(1) 4 Colorectal(3;0.0856) TTCATTGTAGGGGAAAAGCAG 0.418 NA 26 186 3.73e-12 4.86e-12 1 0 ETFA 2108 broad.mit.edu 37 15 76588079 76588079 + Splice_Site SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:76588079C>A uc002bbt.2 - 2 121 c.40_splice c.e2-1 p.A14_splice ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Splice_Site_p.A14_splice NM_000126 NP_000117 P13804 ETFA_HUMAN electron transfer flavoprotein, alpha respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity 0 GCAATGAGGCCTAAAAAGAGC 0.353 NA 16 49 6.94e-10 8.75e-10 1 0 FAH 2184 broad.mit.edu 37 15 80450432 80450432 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:80450432G>A uc002bfj.2 + 3 194 c.112G>A c.(112-114)GAC>AAC p.D38N FAH_uc002bfk.1_Missense_Mutation_p.D38N|FAH_uc002bfm.1_Missense_Mutation_p.D38N|FAH_uc002bfn.1_5'UTR|FAH_uc010unl.1_Missense_Mutation_p.D38N|FAH_uc002bfl.1_Missense_Mutation_p.D38N NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 38 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 GGCCATTGGCGACCAGATCCT 0.527 NA Tyrosinemia_type_1 41 202 0 0 0 0 TMC3 342125 broad.mit.edu 37 15 81650821 81650821 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:81650821A>T uc002bgo.1 - 6 522 c.522T>A c.(520-522)TTT>TTA p.F174L TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.F174L NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 174 Extracellular (Potential). integral to membrane ovary(1)|liver(1) 2 CTGTGCTTCCAAAGGGCTGGC 0.567 NA 8 30 0 0 0 0 AP3B2 8120 broad.mit.edu 37 15 83333627 83333627 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:83333627G>T uc010uoh.1 - 17 2217 c.2040C>A c.(2038-2040)GAC>GAA p.D680E AP3B2_uc010uoi.1_Missense_Mutation_p.D699E|AP3B2_uc010uoj.1_Missense_Mutation_p.D648E|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.D316E|AP3B2_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 680 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCCCCTCAGAGTCCGAGTAGA 0.567 NA 3 21 0.004672 0.00490617 1 0 AP3B2 8120 broad.mit.edu 37 15 83335614 83335614 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:83335614C>A uc010uoh.1 - 15 1914 c.1737G>T c.(1735-1737)GCG>GCT p.A579A AP3B2_uc010uoi.1_Silent_p.A579A|AP3B2_uc010uoj.1_Silent_p.A547A|AP3B2_uc010uog.1_Silent_p.A215A NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 579 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GGGTGAAGCGCGCCCGGTCGC 0.597 NA 28 92 1.04e-07 1.26e-07 1 0 SPATA8 145946 broad.mit.edu 37 15 97327404 97327404 + Silent SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:97327404A>G uc002bue.2 + 2 321 c.111A>G c.(109-111)TCA>TCG p.S37S uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 37 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GACATTTCTCAGAAGCCATGA 0.582 NA 34 86 0 0 0 0 PIGQ 9091 broad.mit.edu 37 16 632905 632905 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:632905G>T uc002cho.2 + 10 1656 c.1554G>T c.(1552-1554)CCG>CCT p.P518P PIGQ_uc010bqw.2_Missense_Mutation_p.R539L|PIGQ_uc002chn.2_Missense_Mutation_p.R539L|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Silent_p.P88P|uc010uuj.1_3'UTR NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 518 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 Hepatocellular(780;0.00335) CCCTACAGCCGCGTGGTGCAC 0.667 NA 103 145 4.85e-53 7.41e-53 1 0 CEMP1 752014 broad.mit.edu 37 16 2580803 2580803 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:2580803C>T uc002cqr.2 - 1 628 c.272G>A c.(271-273)TGT>TAT p.C91Y AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR NM_001048212 NP_001041677 Q6PRD7 CEMP1_HUMAN cementum protein 1 91 cytoplasm skin(1) 1 TCTCAGCCCACAAGCCCCAGG 0.657 NA 29 47 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17202577 17202577 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:17202577A>G uc002dfa.2 - 12 2940 c.2855T>C c.(2854-2856)GTC>GCC p.V952A NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 952 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 ATCAGGTTTGACTGCCCCCAG 0.662 NA 5 42 0 0 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801674 24801674 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:24801674G>A uc002dmm.2 + 6 1825 c.1711G>A c.(1711-1713)GGT>AGT p.G571S TNRC6A_uc010bxs.2_Missense_Mutation_p.G318S|TNRC6A_uc010vcc.1_Missense_Mutation_p.G318S|TNRC6A_uc002dmn.2_Missense_Mutation_p.G318S|TNRC6A_uc002dmo.2_Missense_Mutation_p.G318S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 571 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AAACAAAGGAGGTGGTGTGTG 0.488 NA 27 96 0 0 0 0 ZNF720 124411 broad.mit.edu 37 16 31733987 31733987 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:31733987G>T uc002ecn.3 + 2 248 c.44G>T c.(43-45)CGG>CTG p.R15L ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.R17L NM_001130913 NP_001124385 Q7Z2F6 ZN720_HUMAN zinc finger protein 720 15 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 GAATTCTCTCGGGAGGAGTGG 0.458 NA 31 123 9.86e-13 1.29e-12 1 0 ABCC11 85320 broad.mit.edu 37 16 48232119 48232119 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:48232119C>T uc002eff.1 - 15 2500 c.2150G>A c.(2149-2151)AGT>AAT p.S717N ABCC11_uc002efg.1_Missense_Mutation_p.S717N|ABCC11_uc002efh.1_Missense_Mutation_p.S717N|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 717 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CATTAACTCACTGTGAGTTCC 0.403 NA Cerumen_Type 30 150 0 0 0 0 LONP2 83752 broad.mit.edu 37 16 48278415 48278415 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:48278415T>A uc002efi.1 + 1 205 c.116T>A c.(115-117)CTG>CAG p.L39Q LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.L39Q|ABCC11_uc010vgl.1_Intron NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 39 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GCCCGCAACCTGCAGCTGGTG 0.701 NA 6 5 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49669635 49669635 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:49669635T>A uc002efs.2 - 5 3726 c.3428A>T c.(3427-3429)CAC>CTC p.H1143L ZNF423_uc010vgn.1_Missense_Mutation_p.H1026L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1143 C2H2-type 26. 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) GAGGTCACGGTGGTCCACCTG 0.672 NA 35 181 0 0 0 0 HP 3240 broad.mit.edu 37 16 72094424 72094424 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:72094424C>A uc002fbr.3 + 7 900 c.856C>A c.(856-858)CGA>AGA p.R286R TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.R227R|HP_uc002fbt.3_Silent_p.R227R|HP_uc002fbu.1_Silent_p.R24R|HP_uc002fbv.3_Silent_p.R197R|HP_uc002fbw.3_Silent_p.R108R|HP_uc002fbx.3_Silent_p.R108R|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 286 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) TGGCTGGGGGCGAAATGCCAA 0.468 NA 39 33 6.29e-14 8.33e-14 1 0 ZNF778 197320 broad.mit.edu 37 16 89294059 89294059 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr16:89294059G>T uc002fmv.2 + 6 1618 c.1279G>T c.(1279-1281)GGG>TGG p.G427W ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G385W|ZNF778_uc010vpg.1_Missense_Mutation_p.G190W NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 427 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) TAAGGACTGCGGGAAAGCCTT 0.502 NA 21 109 1.11e-09 1.39e-09 1 0 MYBBP1A 10514 broad.mit.edu 37 17 4442815 4442815 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:4442815C>G uc002fyb.3 - 26 3944 c.3882G>C c.(3880-3882)GCG>GCC p.A1294A MYBBP1A_uc002fxz.3_Silent_p.A1294A|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Silent_p.A239A|MYBBP1A_uc010vsa.1_Silent_p.A336A NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 1294 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 TCCGTGCCAGCGCGGACAGTG 0.582 NA 92 398 0 0 0 0 ZMYND15 84225 broad.mit.edu 37 17 4646665 4646665 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:4646665G>C uc002fyt.2 + 6 1251 c.1212G>C c.(1210-1212)TGG>TGC p.W404C ZMYND15_uc002fyv.2_Missense_Mutation_p.W404C|ZMYND15_uc002fyu.2_Missense_Mutation_p.W404C NM_032265 NP_115641 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 isoform 2 404 zinc ion binding 0 GTGGCTATTGGACCCAGCTCA 0.612 NA 139 270 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 97 62 2.29e-32 3.38e-32 1 0 MYH13 8735 broad.mit.edu 37 17 10267796 10267796 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:10267796G>A uc002gmk.1 - 3 142 c.52C>T c.(52-54)CGG>TGG p.R18W NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 18 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTGGTTTCCGGAGGTAGGGA 0.493 NA 16 13 0 0 0 0 MYH3 4621 broad.mit.edu 37 17 10545739 10545739 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:10545739G>A uc002gmq.1 - 15 1960 c.1883C>T c.(1882-1884)GCG>GTG p.A628V NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 628 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTTACCATCCGCCGTGGCAAA 0.507 NA 16 102 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11543689 11543689 + Missense_Mutation SNP G G C rs111906560 byFrequency TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:11543689G>C uc002gne.2 + 10 1957 c.1889G>C c.(1888-1890)CGC>CCC p.R630P NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 630 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AACTTTGGACGCATCACACAC 0.557 NA 37 179 0 0 0 0 ZNF18 7566 broad.mit.edu 37 17 11895761 11895761 + Nonsense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:11895761C>T uc002gng.1 - 4 991 c.386G>A c.(385-387)TGG>TAG p.W129* ZNF18_uc002gnh.1_Nonsense_Mutation_p.W129*|ZNF18_uc002gni.1_Nonsense_Mutation_p.W129* NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 129 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TCTGCTTACCCATTGCCACAG 0.458 NA 44 79 0 0 0 0 SLC5A10 125206 broad.mit.edu 37 17 18862478 18862478 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:18862478G>T uc002guu.1 + 3 255 c.214G>T c.(214-216)GGC>TGC p.G72C SLC5A10_uc002gur.1_Missense_Mutation_p.G16C|SLC5A10_uc002gut.1_Missense_Mutation_p.G72C|SLC5A10_uc002guv.1_Missense_Mutation_p.G72C|SLC5A10_uc010vyl.1_Missense_Mutation_p.G72C NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 72 Cytoplasmic (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 CAGCAGCGAGGGCTCTGGCCT 0.652 NA 13 58 7.88e-20 1.1e-19 1 0 C17orf57 124989 broad.mit.edu 37 17 45419337 45419337 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:45419337C>T uc002iln.2 + 6 653 c.242C>T c.(241-243)TCA>TTA p.S81L ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Missense_Mutation_p.S81L|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S81L NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 81 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TCTGATTTTTCAGGAGAAAAA 0.289 NA 15 41 0 0 0 0 NGFR 4804 broad.mit.edu 37 17 47589374 47589374 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:47589374G>A uc002ioz.3 + 5 1067 c.942G>A c.(940-942)CTG>CTA p.L314L NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 314 Cytoplasmic (Potential). anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GCCAGAGCCTGCATGACCAGC 0.637 NA 20 27 0 0 0 0 CA10 56934 broad.mit.edu 37 17 49713340 49713340 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:49713340A>G uc002itw.3 - 7 1651 c.665T>C c.(664-666)ATA>ACA p.I222T CA10_uc002itu.3_Missense_Mutation_p.I151T|CA10_uc002itv.3_Missense_Mutation_p.I228T|CA10_uc002itx.3_Missense_Mutation_p.I222T|CA10_uc002ity.3_Missense_Mutation_p.I222T|CA10_uc002itz.2_Missense_Mutation_p.I222T NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 222 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TAGTTCCTCTATATTAAGCCC 0.368 NA 33 109 0 0 0 0 PSMC5 5705 broad.mit.edu 37 17 61905529 61905529 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:61905529G>T uc002jcb.2 + 2 97 c.56G>T c.(55-57)GGA>GTA p.G19V FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_5'UTR|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.G11V|PSMC5_uc002jcd.2_Missense_Mutation_p.G11V NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 19 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 GCAGGCAGCGGACTCCGCCAA 0.542 NA 29 65 8.17e-17 1.12e-16 1 0 SCN4A 6329 broad.mit.edu 37 17 62049720 62049720 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:62049720G>A uc002jds.1 - 2 461 c.384C>T c.(382-384)CTC>CTT p.L128L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 128 I. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ATGCATGGATGAGCACCTTGA 0.612 NA 6 29 0 0 0 0 SCN4A 6329 broad.mit.edu 37 17 62049989 62049989 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:62049989G>T uc002jds.1 - 1 290 c.213C>A c.(211-213)CCC>CCA p.P71P NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 71 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCTCCGGCGGGGGGTCTCCGT 0.542 NA 3 15 6.4e-05 7.16e-05 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62855907 62855907 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:62855907C>A uc002jey.2 - 11 4888 c.4357G>T c.(4357-4359)GAC>TAC p.D1453Y LRRC37A3_uc010wqg.1_Missense_Mutation_p.D571Y|LRRC37A3_uc002jex.1_Missense_Mutation_p.D430Y|LRRC37A3_uc010wqf.1_Missense_Mutation_p.D491Y|LRRC37A3_uc010dek.1_Missense_Mutation_p.D459Y NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1453 Extracellular (Potential). integral to membrane 0 GGGGACAGGTCAGTGCCCACG 0.502 NA 26 125 1.14e-10 1.45e-10 1 0 HELZ 9931 broad.mit.edu 37 17 65147297 65147297 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:65147297C>T uc010wqk.1 - 18 2411 c.2224G>A c.(2224-2226)GTG>ATG p.V742M HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V741M NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TACTGATGCACAACTGGGTGG 0.378 NA 31 153 0 0 0 0 SOX9 6662 broad.mit.edu 37 17 70120399 70120399 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:70120399C>A uc002jiw.2 + 3 1773 c.1401C>A c.(1399-1401)ACC>ACA p.T467T NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 467 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CCACCTTCACCTACATGAACC 0.642 NA 29 135 0.000184323 0.000203949 1 0 UBE2O 63893 broad.mit.edu 37 17 74388027 74388027 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:74388027C>G uc002jrm.3 - 16 3179 c.3114G>C c.(3112-3114)AAG>AAC p.K1038N UBE2O_uc002jrl.3_Missense_Mutation_p.K642N NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1038 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TGACACACACCTTCCCATTGT 0.607 NA 8 27 0 0 0 0 TBC1D16 125058 broad.mit.edu 37 17 77914883 77914883 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:77914883G>A uc002jxj.2 - 12 2195 c.2079C>T c.(2077-2079)TTC>TTT p.F693F uc002jxg.1_5'Flank|TBC1D16_uc002jxh.2_Silent_p.F331F|TBC1D16_uc002jxi.2_Silent_p.F318F NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 693 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GCAGGAGGCGGAACTGGTACA 0.677 NA 3 18 0 0 0 0 TMEM105 284186 broad.mit.edu 37 17 79287662 79287662 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:79287662G>A uc002kad.1 - 3 729 c.179C>T c.(178-180)CCA>CTA p.P60L NM_178520 NP_848615 Q8N8V8 TM105_HUMAN transmembrane protein 105 60 integral to membrane ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) AGACCGAGGTGGGGACCCCTG 0.632 NA 28 131 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6956666 6956666 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:6956666C>A uc002knm.2 - 56 8157 c.8063G>T c.(8062-8064)AGC>ATC p.S2688I LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.S141I|LAMA1_uc010wzj.1_Missense_Mutation_p.S2164I NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2688 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGAGCTTGCTGTCCTCTGC 0.552 NA 23 170 1.23e-08 1.5e-08 1 0 LAMA1 284217 broad.mit.edu 37 18 7038870 7038870 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:7038870G>C uc002knm.2 - 11 1596 c.1502C>G c.(1501-1503)TCC>TGC p.S501C LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 501 Laminin EGF-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGCACTCGGAGCAGCCCCG 0.537 NA 105 365 0 0 0 0 CDH20 28316 broad.mit.edu 37 18 59221456 59221456 + Missense_Mutation SNP A A C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:59221456A>C uc010dps.1 + 11 1946 c.1934A>C c.(1933-1935)CAC>CCC p.H645P CDH20_uc002lif.2_Missense_Mutation_p.H639P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 645 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) ATGAGGCGGCACCGGAAACAA 0.557 NA 52 53 0 0 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569789 61569789 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:61569789C>A uc010xeu.1 + 8 1163 c.830C>A c.(829-831)ACT>AAT p.T277N SERPINB2_uc002ljo.2_Missense_Mutation_p.T277N|SERPINB2_uc010dqh.2_Missense_Mutation_p.T207N|SERPINB2_uc002ljp.1_Missense_Mutation_p.T82N|SERPINB2_uc002ljq.1_Missense_Mutation_p.T82N NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 277 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GATGTGTCCACTGGCTTGGAG 0.418 NA 83 96 7.49e-41 1.13e-40 1 0 CDH19 28513 broad.mit.edu 37 18 64197182 64197182 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:64197182G>C uc002lkc.1 - 9 1496 c.1358C>G c.(1357-1359)TCG>TGG p.S453W CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S453W NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 453 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CAGTGGGATCGAAGAGATCTG 0.303 NA 66 53 0 0 0 0 DSEL 92126 broad.mit.edu 37 18 65181244 65181244 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr18:65181244C>G uc002lke.1 - 2 1856 c.632G>C c.(631-633)TGG>TCG p.W211S NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 201 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AGTAATAACCCATATTTTTTC 0.383 NA 41 38 0 0 0 0 APC2 10297 broad.mit.edu 37 19 1455209 1455209 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:1455209C>G uc002lsr.1 + 5 683 c.475C>G c.(475-477)CTG>GTG p.L159V APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.L159V|APC2_uc002lsu.1_Missense_Mutation_p.L159V NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 159 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTACTCTCAGCTGCAGGGCCT 0.682 NA 8 14 0 0 0 0 TICAM1 148022 broad.mit.edu 37 19 4818041 4818041 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:4818041C>T uc002mbi.2 - 2 600 c.349G>A c.(349-351)GCC>ACC p.A117T NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 117 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TCCTGGTAGGCCACGTCCCGC 0.677 NA 17 80 0 0 0 0 TMEM146 257062 broad.mit.edu 37 19 5768221 5768221 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:5768221C>G uc002mda.2 + 18 1663 c.1602C>G c.(1600-1602)ACC>ACG p.T534T TMEM146_uc010duj.1_Silent_p.T192T NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 534 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACCCCTTGACCCTGCAAGACA 0.522 NA 17 129 0 0 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389458 6389458 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:6389458C>A uc002meq.2 - 4 608 c.323G>T c.(322-324)AGG>ATG p.R108M GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.R80M NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 108 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 CACTTACTTCCTGCCTGATTT 0.612 NA 85 119 4.87e-31 7.17e-31 1 0 SLC25A41 284427 broad.mit.edu 37 19 6430127 6430127 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:6430127G>C uc010dus.2 - 3 495 c.409C>G c.(409-411)CAG>GAG p.Q137E SLC25A41_uc010dut.2_5'UTR NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 137 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 ACCATGCTCTGTAGCCCCCCC 0.617 NA 15 16 0 0 0 0 C3 718 broad.mit.edu 37 19 6686812 6686812 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:6686812G>A uc002mfm.2 - 28 3653 c.3591C>T c.(3589-3591)GCC>GCT p.A1197A C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1197 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) TGCCCATCTGGGCCAGAGCAT 0.542 NA 132 196 0 0 0 0 C3 718 broad.mit.edu 37 19 6707204 6707204 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:6707204G>C uc002mfm.2 - 17 2190 c.2128C>G c.(2128-2130)CGG>GGG p.R710G NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 710 Anaphylatoxin-like. 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) AAACGGGTCCGGCGCTGGCAC 0.657 NA 13 53 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10610576 10610576 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:10610576G>T uc002moq.1 - 2 290 c.134C>A c.(133-135)TCC>TAC p.S45Y KEAP1_uc002mor.1_Missense_Mutation_p.S45Y NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.S45S(1) 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) GCCATGCTGGGAGGGCGTCAC 0.637 NA 39 168 7.05e-23 1e-22 1 0 SMARCA4 6597 broad.mit.edu 37 19 11144002 11144002 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:11144002C>A uc002mqf.3 + 26 3867 c.3583C>A c.(3583-3585)CAG>AAG p.Q1195K SMARCA4_uc010dxp.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxo.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxq.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxr.2_Missense_Mutation_p.Q1195K|SMARCA4_uc002mqj.3_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxs.2_Missense_Mutation_p.Q1195K|SMARCA4_uc010dxt.1_Missense_Mutation_p.Q415K|SMARCA4_uc002mqh.3_Missense_Mutation_p.Q318K|SMARCA4_uc002mqi.1_Missense_Mutation_p.Q398K NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1195 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCGCATCGGGCAGCAGAACGA 0.612 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 27 107 6.33e-13 8.31e-13 1 0 LPHN1 22859 broad.mit.edu 37 19 14268735 14268735 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:14268735G>A uc010xnn.1 - 14 2805 c.2509C>T c.(2509-2511)CAC>TAC p.H837Y LPHN1_uc010xno.1_Missense_Mutation_p.H832Y|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 837 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 TTGGTGAGGTGGCTGCAGGCA 0.607 NA 29 72 0 0 0 0 OR7A5 26659 broad.mit.edu 37 19 14938984 14938984 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:14938984G>T uc002mzw.2 - 1 293 c.70C>A c.(70-72)CAA>AAA p.Q24K OR7A5_uc010xoa.1_Missense_Mutation_p.Q24K NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 AGGAAGGGTTGCAGTCCAGGT 0.473 NA 43 69 7.63e-17 1.05e-16 1 0 NOTCH3 4854 broad.mit.edu 37 19 15299972 15299972 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:15299972G>A uc002nan.2 - 8 1282 c.1206C>T c.(1204-1206)TGC>TGT p.C402C NOTCH3_uc002nao.1_Silent_p.C402C NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 402 Extracellular (Potential).|EGF-like 10; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCAAGTGCTCGCAGGGGTTGG 0.652 NA 19 65 0 0 0 0 OR10H1 26539 broad.mit.edu 37 19 15918353 15918353 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:15918353G>A uc002nbq.2 - 1 584 c.495C>T c.(493-495)CAC>CAT p.H165H NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGAAGGCGAGGTGGAAAATGG 0.607 NA 50 73 0 0 0 0 CYP4F2 8529 broad.mit.edu 37 19 16001226 16001226 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:16001226C>T uc002nbs.1 - 6 593 c.543G>A c.(541-543)CTG>CTA p.L181L CYP4F2_uc010xot.1_Silent_p.L32L|CYP4F2_uc010xou.1_Silent_p.L32L NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 181 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CCTCTGAGGCCAGGAGCTGCC 0.557 NA 30 32 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17040011 17040011 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:17040011T>C uc002nfb.2 - 24 3058 c.3026A>G c.(3025-3027)CAG>CGG p.Q1009R NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 962 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CTGCACATACTGGAACTCATA 0.587 NA 18 60 0 0 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368706 18368706 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:18368706G>A uc002nin.2 - 4 3043 c.2827C>T c.(2827-2829)CGT>TGT p.R943C PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1130C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R897C|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 943 IQ 2. mitochondrion ovary(2) 2 ATCCTGCGACGCGCCAGGTAG 0.672 NA 50 71 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22940817 22940817 + Nonsense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:22940817G>A uc010xrh.1 - 5 1621 c.1621C>T c.(1621-1623)CAG>TAG p.Q541* 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) GTTGAGGACTGGCTAAAAGCT 0.388 NA 38 69 0 0 0 0 ANKRD27 84079 broad.mit.edu 37 19 33117730 33117730 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:33117730T>G uc002ntn.1 - 16 1580 c.1424A>C c.(1423-1425)CAG>CCG p.Q475P NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 475 ANK 2. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GAGGGATGCCTGCCCTGCAGA 0.567 NA 9 14 0 0 0 0 NPHS1 4868 broad.mit.edu 37 19 36321757 36321757 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:36321757C>T uc002oby.2 - 28 3583 c.3583G>A c.(3583-3585)GAA>AAA p.E1195K NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1195 Binds to NPHS2.|Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATCTGCACTTCATCGTAGAGG 0.468 NA 51 187 0 0 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915308 39915308 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:39915308C>T uc010xuz.1 + 19 3860 c.3535C>T c.(3535-3537)CCT>TCT p.P1179S PLEKHG2_uc010xuy.1_Missense_Mutation_p.P1120S|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P957S NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1179 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGCGGCTGCACCTCCACTTCC 0.572 NA 41 233 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40362807 40362807 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:40362807G>T uc002omp.3 - 32 15271 c.15263C>A c.(15262-15264)GCC>GAC p.A5088D NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5088 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCACAGGAAGGCTTTGTCACC 0.652 NA 79 117 2.67e-37 4e-37 1 0 SPTBN4 57731 broad.mit.edu 37 19 41009736 41009736 + Splice_Site SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:41009736G>T uc002ony.2 + 12 1449 c.1363_splice c.e12-1 p.D455_splice SPTBN4_uc002onx.2_Splice_Site_p.D455_splice|SPTBN4_uc002onz.2_Splice_Site_p.D455_splice NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACTGCCCCAGGACAACTTTG 0.602 NA 8 18 0.00307968 0.00326572 1 0 PSG8 440533 broad.mit.edu 37 19 43268276 43268276 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:43268276G>T uc002ouo.2 - 2 320 c.222C>A c.(220-222)GAC>GAA p.D74E PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.D74E|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.D74E|PSG8_uc002oum.3_Missense_Mutation_p.D74E|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.D74E NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 74 Ig-like V-type. extracellular region 0 Prostate(69;0.00899) AATGGTAGAGGTCCCTGATTT 0.423 NA 184 574 8.44e-94 1.3e-93 1 0 SIX5 147912 broad.mit.edu 37 19 46268861 46268861 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:46268861C>A uc002pdb.2 - 3 2513 c.2118G>T c.(2116-2118)CTG>CTT p.L706L SIX5_uc002pdc.2_3'UTR NM_175875 NP_787071 Q8N196 SIX5_HUMAN SIX homeobox 5 706 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) CGGTGGCCCCCAGGAGCAGCC 0.672 NA 67 109 9.08e-34 1.35e-33 1 0 FPR2 2358 broad.mit.edu 37 19 52272482 52272482 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:52272482C>A uc002pxr.2 + 2 616 c.571C>A c.(571-573)CTG>ATG p.L191M FPR2_uc002pxs.3_Missense_Mutation_p.L191M|FPR2_uc010epf.2_Missense_Mutation_p.L191M NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 191 Extracellular (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 TGAGGAGAGGCTGAAGGTGGC 0.488 NA 20 137 1.16e-05 1.33e-05 1 0 NLRP8 126205 broad.mit.edu 37 19 56466176 56466176 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:56466176C>T uc002qmh.2 + 3 823 c.752C>T c.(751-753)ACG>ATG p.T251M NLRP8_uc010etg.2_Missense_Mutation_p.T251M NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 251 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGAACCAGACGACAGACCAG 0.512 NA 49 210 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57176029 57176029 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:57176029A>T uc010ygo.1 - 2 604 c.604T>A c.(604-606)TAC>AAC p.Y202N ZNF835_uc010ygn.1_Missense_Mutation_p.Y180N NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GACGCCAGGTACGAGCCCTGG 0.706 NA 7 6 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57327145 57327145 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:57327145G>T uc002qnu.2 - 7 3016 c.2665C>A c.(2665-2667)CGC>AGC p.R889S ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R860S|PEG3_uc002qnv.2_Missense_Mutation_p.R889S|PEG3_uc002qnw.2_Missense_Mutation_p.R765S|PEG3_uc002qnx.2_Missense_Mutation_p.R763S|PEG3_uc010etr.2_Missense_Mutation_p.R889S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 889 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCATAGTTGCGATTCTTACTG 0.443 NA 26 128 3.8e-18 5.27e-18 1 0 USP29 57663 broad.mit.edu 37 19 57642105 57642105 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:57642105C>A uc002qny.2 + 4 2418 c.2062C>A c.(2062-2064)CAT>AAT p.H688N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 688 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTGCCTCAACATCCAGAACT 0.433 NA 15 58 7.93e-07 9.35e-07 1 0 ZNF460 10794 broad.mit.edu 37 19 57803285 57803285 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:57803285G>T uc002qog.2 + 3 1698 c.1376G>T c.(1375-1377)CGG>CTG p.R459L ZNF460_uc010ygv.1_Missense_Mutation_p.R418L NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 459 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCCTTTTGTCGGACCACAAAC 0.527 NA 21 98 3.88e-16 5.25e-16 1 0 PXDN 7837 broad.mit.edu 37 2 1677464 1677464 + Silent SNP G G A rs61746899 by1000genomes TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:1677464G>A uc002qxa.2 - 9 1033 c.969C>T c.(967-969)GCC>GCT p.A323A PXDN_uc002qxb.1_Silent_p.A323A|PXDN_uc002qxc.1_Silent_p.A140A NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 323 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCACCTCTCCGGCCACGTTCT 0.562 NA 59 263 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1906998 1906998 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:1906998G>C uc002qxe.2 - 14 2713 c.1886C>G c.(1885-1887)ACG>AGG p.T629R MYT1L_uc002qxd.2_Missense_Mutation_p.T627R|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 629 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGAACGCGGCGTAGTTGTGGG 0.463 NA 15 43 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11741112 11741112 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:11741112C>T uc002rbk.1 + 16 2820 c.2520C>T c.(2518-2520)TCC>TCT p.S840S GREB1_uc002rbo.1_Silent_p.S474S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 840 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCCTGCCTCCTGCAGTAATG 0.532 NA 20 86 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11758774 11758774 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:11758774T>C uc002rbk.1 + 22 4073 c.3773T>C c.(3772-3774)ATT>ACT p.I1258T GREB1_uc002rbp.1_Missense_Mutation_p.I256T NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1258 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CAGCCACCCATTGTCTTCTTG 0.667 NA 18 26 0 0 0 0 TRIB2 28951 broad.mit.edu 37 2 12880596 12880596 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:12880596C>T uc002rbv.3 + 3 2144 c.708C>T c.(706-708)GAC>GAT p.D236D TRIB2_uc010yjp.1_Silent_p.D100D NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 236 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAGCAGCCGACGTGTGGAGCC 0.592 NA 11 85 0 0 0 0 C2orf44 80304 broad.mit.edu 37 2 24255744 24255744 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:24255744T>C uc002rep.2 - 3 2022 c.1891A>G c.(1891-1893)ACA>GCA p.T631A C2orf44_uc010eya.2_Intron NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 631 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGAACTGTACTGAGCCTT 0.408 NA 39 177 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33411996 33411996 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:33411996C>A uc002ros.2 + 6 1275 c.1275C>A c.(1273-1275)TTC>TTA p.F425L LTBP1_uc002rot.2_Missense_Mutation_p.F99L|LTBP1_uc002rou.2_Missense_Mutation_p.F99L|LTBP1_uc002rov.2_Missense_Mutation_p.F99L|LTBP1_uc010ymz.1_Missense_Mutation_p.F99L|LTBP1_uc010yna.1_Missense_Mutation_p.F99L NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 425 EGF-like 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTCCAAATTTCACAGGAAAAC 0.483 NA 39 68 8.74e-17 1.19e-16 1 0 LTBP1 4052 broad.mit.edu 37 2 33525538 33525538 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:33525538G>T uc002ros.2 + 21 3259 c.3259G>T c.(3259-3261)GGG>TGG p.G1087W LTBP1_uc002rot.2_Missense_Mutation_p.G761W|LTBP1_uc002rou.2_Missense_Mutation_p.G760W|LTBP1_uc002rov.2_Missense_Mutation_p.G707W|LTBP1_uc010ymz.1_Missense_Mutation_p.G760W|LTBP1_uc010yna.1_Missense_Mutation_p.G707W|LTBP1_uc010ynb.1_Missense_Mutation_p.G26W NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1086 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATGTCAGCAAGGGAATCTATG 0.488 NA 15 90 4.75e-09 5.91e-09 1 0 VRK2 7444 broad.mit.edu 37 2 58276056 58276056 + Silent SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:58276056A>T uc002rzo.2 + 5 835 c.90A>T c.(88-90)GTA>GTT p.V30V VRK2_uc010fcb.2_Silent_p.V30V|VRK2_uc002rzs.2_Silent_p.V30V|VRK2_uc002rzr.2_Silent_p.V30V|VRK2_uc010fcc.2_5'UTR|VRK2_uc002rzv.2_Silent_p.V30V|VRK2_uc010fcd.2_Silent_p.V7V|VRK2_uc002rzp.2_Silent_p.V30V|VRK2_uc010ypg.1_Silent_p.V30V|VRK2_uc002rzq.2_Silent_p.V30V|VRK2_uc002rzu.2_Silent_p.V30V|VRK2_uc002rzt.2_5'UTR NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 30 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 ATCAGTGGGTACTGGGCAAGA 0.368 NA 20 91 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71742778 71742778 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:71742778G>A uc002sie.2 + 7 1065 c.689G>A c.(688-690)CGC>CAC p.R230H DYSF_uc010feg.2_Missense_Mutation_p.R261H|DYSF_uc010feh.2_Missense_Mutation_p.R230H|DYSF_uc002sig.3_Missense_Mutation_p.R230H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R230H|DYSF_uc010fef.2_Missense_Mutation_p.R261H|DYSF_uc010fei.2_Missense_Mutation_p.R261H|DYSF_uc010fek.2_Missense_Mutation_p.R262H|DYSF_uc010fej.2_Missense_Mutation_p.R231H|DYSF_uc010fel.2_Missense_Mutation_p.R231H|DYSF_uc010feo.2_Missense_Mutation_p.R262H|DYSF_uc010fem.2_Missense_Mutation_p.R231H|DYSF_uc010fen.2_Missense_Mutation_p.R262H|DYSF_uc002sif.2_Missense_Mutation_p.R231H NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 230 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ATCGAGGGGCGCCAGCTGCCG 0.592 NA 56 160 0 0 0 0 C2orf65 130951 broad.mit.edu 37 2 74789507 74789507 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:74789507G>C uc002smy.2 - 8 1235 c.1118C>G c.(1117-1119)CCA>CGA p.P373R C2orf65_uc010ysa.1_Missense_Mutation_p.P373R|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.P129R NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 373 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 GCTGTGTCCTGGGCCCGGTGG 0.527 NA 32 88 0 0 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975838 76975838 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:76975838C>G uc002snr.2 - 4 2171 c.1756G>C c.(1756-1758)GAG>CAG p.E586Q LRRTM4_uc002snq.2_Missense_Mutation_p.E586Q NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 586 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GCAATTCTCTCTAGGTAGATG 0.597 NA 45 124 0 0 0 0 REG1A 5967 broad.mit.edu 37 2 79349177 79349177 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:79349177T>A uc002snz.2 + 4 350 c.247T>A c.(247-249)TTT>ATT p.F83I REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.F83I NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 83 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CGAGGGTGCCTTTGTGGCCTC 0.522 NA 29 111 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100625372 100625372 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:100625372C>T uc002tag.2 - 4 312 c.76G>A c.(76-78)GCA>ACA p.A26T AFF3_uc002taf.2_Missense_Mutation_p.A51T|AFF3_uc010fiq.1_Missense_Mutation_p.A26T|AFF3_uc010yvr.1_Missense_Mutation_p.A180T|AFF3_uc002tah.1_Missense_Mutation_p.A51T|AFF3_uc010fir.1_Missense_Mutation_p.A103T|AFF3_uc002tai.2_5'Flank NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 26 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CTCCGTAATGCATTTCTATCT 0.398 NA 8 29 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 115200370 115200370 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:115200370C>A uc002tla.1 + 1 472 c.15C>A c.(13-15)GCC>GCA p.A5A NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 5 Mediates effects on KCND2.|Cytoplasmic (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ACCAAACTGCCAGCGTGTCCC 0.468 NA 15 47 3.33e-07 3.98e-07 1 0 LIMS2 55679 broad.mit.edu 37 2 128414981 128414981 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:128414981T>G uc002tpa.2 - 2 333 c.167A>C c.(166-168)TAT>TCT p.Y56S LIMS2_uc002tox.2_Missense_Mutation_p.Y80S|LIMS2_uc010fmb.2_5'UTR|LIMS2_uc002toy.2_Missense_Mutation_p.Y51S|LIMS2_uc010yzm.1_Missense_Mutation_p.Y78S|LIMS2_uc002toz.2_Missense_Mutation_p.Y51S|LIMS2_uc002tpb.2_Missense_Mutation_p.Y51S NM_001161403 NP_001154875 Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 56 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CCTCACCTCATAGAAGAGCCC 0.627 NA 55 105 0 0 0 0 CXCR4 7852 broad.mit.edu 37 2 136872794 136872794 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:136872794C>G uc002tuz.2 - 2 799 c.704G>C c.(703-705)CGC>CCC p.R235P CXCR4_uc002tuy.2_Missense_Mutation_p.R239P|CXCR4_uc010fnk.2_Missense_Mutation_p.R220P NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 235 Cytoplasmic. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GAGGGCCTTGCGCTTCTGGTG 0.522 NA 100 173 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 138376011 138376011 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:138376011C>T uc002tva.1 + 18 3528 c.3528C>T c.(3526-3528)GTC>GTT p.V1176V THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCAAGGCGTCAGGACCCGCC 0.507 NA 6 42 0 0 0 0 NR4A2 4929 broad.mit.edu 37 2 157182511 157182511 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:157182511C>A uc002tyz.3 - 8 1964 c.1542G>T c.(1540-1542)GAG>GAT p.E514D NR4A2_uc002tyx.3_Missense_Mutation_p.E451D|NR4A2_uc010zcf.1_Missense_Mutation_p.E514D NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 514 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCCCGTGTCTCTCTGCAGAAA 0.423 NA 9 62 0.000274275 0.000299902 1 0 LRP2 4036 broad.mit.edu 37 2 170063612 170063612 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:170063612C>A uc002ues.2 - 39 6831 c.6618G>T c.(6616-6618)TGG>TGT p.W2206C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2206 LDL-receptor class B 22.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATAGTCAGCCCAGAAGAGGT 0.483 NA 114 249 5.16e-52 7.85e-52 1 0 ITGA6 3655 broad.mit.edu 37 2 173333907 173333907 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:173333907C>G uc002uhp.1 + 4 645 c.442C>G c.(442-444)CGA>GGA p.R148G ITGA6_uc010fqk.1_Missense_Mutation_p.R34G|ITGA6_uc010zdy.1_Missense_Mutation_p.R34G|ITGA6_uc002uho.1_Missense_Mutation_p.R148G|ITGA6_uc010fql.2_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 148 Extracellular (Potential).|FG-GAP 2. blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GCAGGAATCCCGAGACATCTT 0.458 NA 56 374 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179529453 179529453 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:179529453G>T uc010zfk.1 - 12 1116 c.568C>A c.(568-570)CTC>ATC p.L190I TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCTTGGAGAGCTTCAGGC 0.383 NA 41 26 3.55e-21 5e-21 1 0 TTN 7273 broad.mit.edu 37 2 179593122 179593122 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:179593122G>T uc010zfg.1 - 64 15921 c.15697C>A c.(15697-15699)CAA>AAA p.Q5233K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1894K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6160 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E5233K(1) 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) GGAATATTTTGATCTGTCCAA 0.373 NA 13 14 9.05e-12 1.17e-11 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803442 185803442 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:185803442G>T uc002uph.2 + 4 3913 c.3319G>T c.(3319-3321)GCT>TCT p.A1107S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1107 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 gcagcagcacgctgcagctgc 0.373 NA 22 22 1.27e-14 1.69e-14 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803545 185803545 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:185803545C>A uc002uph.2 + 4 4016 c.3422C>A c.(3421-3423)ACC>AAC p.T1141N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1141 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTCACCAGAACCTCATTACCT 0.408 NA 79 75 9.43e-34 1.4e-33 1 0 ERBB4 2066 broad.mit.edu 37 2 212488770 212488770 + Splice_Site SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:212488770C>A uc002veg.1 - 18 2178 c.2080_splice c.e18-1 p.L694_splice ERBB4_uc002veh.1_Splice_Site_p.L694_splice|ERBB4_uc010zji.1_Splice_Site_p.L684_splice|ERBB4_uc010zjj.1_Splice_Site_p.L684_splice|ERBB4_uc010fut.1_Splice_Site_p.L694_splice NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTTCCACCAACTGCAAAGCGG 0.368 NA TSP Lung(8;0.080) 47 39 1.83e-24 2.64e-24 1 0 ABCB6 10058 broad.mit.edu 37 2 220083227 220083227 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:220083227C>A uc002vkc.1 - 1 446 c.169G>T c.(169-171)GCT>TCT p.A57S ABCB6_uc010fwe.1_Missense_Mutation_p.A57S|ABCB6_uc010zku.1_RNA|ATG9A_uc002vkd.1_RNA NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 57 cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGCACCAGCGGGCCGCTCC 0.687 NA 8 11 3.1e-07 3.71e-07 1 0 NRSN2 80023 broad.mit.edu 37 20 330327 330327 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:330327G>T uc002wdi.3 + 3 578 c.40G>T c.(40-42)GGC>TGC p.G14C NRSN2_uc002wdj.2_Intron|NRSN2_uc002wdl.2_Missense_Mutation_p.G13C NM_024958 NP_079234 Q9GZP1 NRSN2_HUMAN neurensin 2 14 integral to membrane|plasma membrane|transport vesicle 0 all_cancers(10;0.0834) CTGCAGCCGCGGCCCCAGCGT 0.632 NA 27 48 3.93e-24 5.66e-24 1 0 SIRPB1 10326 broad.mit.edu 37 20 1552462 1552462 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:1552462C>T uc010gai.2 - 3 754 c.655G>A c.(655-657)GGG>AGG p.G219R SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 219 Ig-like C1-type 1.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 TGAACGTCCCCACGGGTCAGC 0.582 NA 63 131 0 0 0 0 PDYN 5173 broad.mit.edu 37 20 1961152 1961152 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:1961152G>A uc010gaj.2 - 3 824 c.582C>T c.(580-582)GAC>GAT p.D194D uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.D194D|PDYN_uc010zpt.1_Silent_p.D39D NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 194 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 TGCTATCCCCGTCCCCCTCCC 0.592 NA 93 158 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9561465 9561465 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:9561465G>A uc002wnl.2 - 5 862 c.317C>T c.(316-318)CCC>CTC p.P106L PAK7_uc002wnk.2_Missense_Mutation_p.P106L|PAK7_uc002wnj.2_Missense_Mutation_p.P106L|PAK7_uc010gby.1_Missense_Mutation_p.P106L NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 106 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ATCTGGGGTGGGTGGGCTTTC 0.542 NA 127 185 0 0 0 0 MAFB 9935 broad.mit.edu 37 20 39317053 39317053 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:39317053C>A uc002xji.2 - 1 824 c.438G>T c.(436-438)CCG>CCT p.P146P NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 146 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) CGCCGGCGCCCGGGTACGCgt 0.587 NA T IGH@ MM 13 14 2.63e-14 3.48e-14 1 0 ZNF831 128611 broad.mit.edu 37 20 57767409 57767409 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:57767409C>A uc002yan.2 + 1 1335 c.1335C>A c.(1333-1335)CCC>CCA p.P445P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 445 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TGCCCACGCCCTACACCTACA 0.682 NA 15 71 7.93e-07 9.35e-07 1 0 LAMA5 3911 broad.mit.edu 37 20 60905980 60905980 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr20:60905980C>G uc002ycq.2 - 30 3738 c.3671G>C c.(3670-3672)CGC>CCC p.R1224P NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1224 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTTGGGAAGCGCGAGGGCAG 0.721 NA 2 5 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10944708 10944708 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:10944708A>G uc002yip.1 - 11 894 c.526T>C c.(526-528)TAC>CAC p.Y176H TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y158H|TPTE_uc002yir.1_Missense_Mutation_p.Y138H|TPTE_uc010gkv.1_Missense_Mutation_p.Y38H NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 176 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAAAAATGTAAACGACATCA 0.294 NA 27 308 0 0 0 0 HSPA13 6782 broad.mit.edu 37 21 15748099 15748099 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:15748099C>A uc002yjt.2 - 4 691 c.622G>T c.(622-624)GCT>TCT p.A208S HSPA13_uc011abx.1_5'UTR NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 208 endoplasmic reticulum|microsome ATP binding kidney(1) 1 TAGGCCATAGCTGCTGCTGTG 0.443 NA 50 94 1.63e-21 2.3e-21 1 0 SAMSN1 64092 broad.mit.edu 37 21 15870888 15870888 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:15870888T>C uc002yju.1 - 7 876 c.794A>G c.(793-795)AAT>AGT p.N265S SAMSN1_uc010gky.1_Missense_Mutation_p.N97S|SAMSN1_uc002yjv.1_Missense_Mutation_p.N333S NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 265 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CTCATAACCATTGAGCAAAAG 0.284 NA 35 101 0 0 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338240 28338240 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:28338240C>A uc002ymg.2 - 1 1200 c.471G>T c.(469-471)GCG>GCT p.A157A NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 157 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CGTGCTTGACCGCGAAGAAGC 0.662 NA 9 44 0.00448238 0.00474928 1 0 RWDD2B 10069 broad.mit.edu 37 21 30391545 30391545 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:30391545C>T uc002yms.2 - 1 141 c.54G>A c.(52-54)GGG>GGA p.G18G RWDD2B_uc002ymt.2_5'UTR|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 18 0 GAGCCGTGGCCCCCTCACTGC 0.582 NA 4 9 0 0 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127484 32127484 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:32127484G>T uc011adi.1 - 1 213 c.213C>A c.(211-213)TGC>TGA p.C71* NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 71 intermediate filament breast(1) 1 ATCTTCTAAAGCAAAATGGCC 0.299 NA 37 205 2.49e-23 3.56e-23 1 0 GAB4 128954 broad.mit.edu 37 22 17451084 17451084 + Splice_Site SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:17451084C>G uc002zlw.2 - 4 795 c.687_splice c.e4-1 p.R229_splice GAB4_uc010gqs.1_Intron NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGGCACTCCTAAGAGAGAG 0.532 NA 24 82 0 0 0 0 DGCR14 8220 broad.mit.edu 37 22 19127505 19127505 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:19127505G>A uc002zou.2 - 4 470 c.433C>T c.(433-435)CTG>TTG p.L145L DGCR14_uc002zot.2_Silent_p.L66L|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 145 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) AGGCTGGGCAGCGGCTCCTTC 0.612 NA 85 131 0 0 0 0 FBXO7 25793 broad.mit.edu 37 22 32889195 32889195 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:32889195G>C uc003amq.2 + 7 1354 c.1071G>C c.(1069-1071)GCG>GCC p.A357A FBXO7_uc003amr.2_Silent_p.A243A|FBXO7_uc003ams.2_Silent_p.A201A|FBXO7_uc003amt.2_Silent_p.A278A|FBXO7_uc003amu.2_Silent_p.A243A|FBXO7_uc003amv.2_Silent_p.A56A NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 357 F-box. cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 CTTTGTCTGCGGTTTGTCGTG 0.448 NA 89 187 0 0 0 0 NCF4 4689 broad.mit.edu 37 22 37266473 37266473 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:37266473C>G uc003apy.3 + 5 543 c.359C>G c.(358-360)CCG>CGG p.P120R NCF4_uc003apz.3_Missense_Mutation_p.P120R NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 120 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 CTCAGCCTGCCGGTCTGGGTG 0.642 NA 30 89 0 0 0 0 SMC1B 27127 broad.mit.edu 37 22 45779421 45779421 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:45779421T>C uc003bgc.2 - 12 2036 c.1984A>G c.(1984-1986)AAG>GAG p.K662E SMC1B_uc003bgd.2_Missense_Mutation_p.K662E|SMC1B_uc003bge.1_Missense_Mutation_p.K445E NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 662 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CATCTAGCCTTGTATTTTAAG 0.363 NA 67 108 0 0 0 0 MOV10L1 54456 broad.mit.edu 37 22 50552123 50552123 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr22:50552123T>G uc003bjj.2 + 6 873 c.790T>G c.(790-792)TTG>GTG p.L264V MOV10L1_uc003bjk.3_Missense_Mutation_p.L264V|MOV10L1_uc011arp.1_Missense_Mutation_p.L244V|MOV10L1_uc011arq.1_Missense_Mutation_p.L25V|MOV10L1_uc010hao.1_5'Flank NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 264 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGGAACGATTTTGCTGAAGAA 0.473 NA 47 115 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1337387 1337387 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:1337387T>A uc003boz.2 + 6 824 c.557T>A c.(556-558)GTG>GAG p.V186E CNTN6_uc010hbo.2_Missense_Mutation_p.V181E|CNTN6_uc011asj.1_Missense_Mutation_p.V114E|CNTN6_uc003bpa.2_Missense_Mutation_p.V186E NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 186 Ig-like C2-type 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTGCCAAAGTGGAACCATCA 0.443 NA 21 70 0 0 0 0 TRIM71 131405 broad.mit.edu 37 3 32933213 32933213 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:32933213G>A uc003cff.2 + 4 2580 c.2517G>A c.(2515-2517)GGG>GGA p.G839G NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 839 NHL 6. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GCGGCTTTGGGCAGATGGACC 0.547 NA 46 220 0 0 0 0 SLC6A20 54716 broad.mit.edu 37 3 45800531 45800531 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:45800531G>T uc011bai.1 - 11 1842 c.1718C>A c.(1717-1719)GCG>GAG p.A573E SLC6A20_uc003cow.2_Missense_Mutation_p.A223E|SLC6A20_uc011baj.1_Missense_Mutation_p.A536E NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 573 Helical; Name=12; (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCCCAGGGCCGCCAGGGGGAT 0.612 NA 42 39 2.55e-27 3.71e-27 1 0 PTH1R 5745 broad.mit.edu 37 3 46944837 46944837 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:46944837C>A uc003cqm.2 + 16 1676 c.1473C>A c.(1471-1473)AGC>AGA p.S491R PTH1R_uc003cqn.2_Missense_Mutation_p.S491R NM_000316 NP_000307 Q03431 PTH1R_HUMAN parathyroid hormone receptor 1 precursor 491 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1) 1 GCAGCGGGAGCAGCAGCTATA 0.622 NA Ollier_disease_/_Maffuci_syndrome 24 23 7.44e-23 1.06e-22 1 0 CELSR3 1951 broad.mit.edu 37 3 48696506 48696506 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:48696506G>T uc003cul.2 - 1 3843 c.3562C>A c.(3562-3564)CCG>ACG p.P1188T CELSR3_uc003cuf.1_Missense_Mutation_p.P1258T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1188 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATGCCCGACGGGAAGGTGTCT 0.537 NA 61 52 2.91e-39 4.4e-39 1 0 WDR6 11180 broad.mit.edu 37 3 49050668 49050668 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:49050668C>G uc003cvj.2 + 2 1929 c.1791C>G c.(1789-1791)CAC>CAG p.H597Q WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.H541Q|WDR6_uc011bbz.1_Missense_Mutation_p.H516Q NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 567 WD 9. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CCTCTCTGCACGGGAAGCAGG 0.597 NA 4 55 0 0 0 0 NISCH 11188 broad.mit.edu 37 3 52526337 52526337 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:52526337G>A uc011beg.1 + 22 4426 c.4354G>A c.(4354-4356)GGG>AGG p.G1452R NISCH_uc003ded.3_Missense_Mutation_p.G1452R|NISCH_uc003dee.3_Missense_Mutation_p.G941R|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.G201R NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1452 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GGACCACTTTGGGGAGGTGCC 0.617 NA 166 160 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74334568 74334568 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:74334568G>C uc003dpm.1 - 19 2672 c.2592C>G c.(2590-2592)GCC>GCG p.A864A NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 864 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCCGTAGTCTGGCTGATGTCT 0.547 NA 44 163 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77629206 77629206 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:77629206G>A uc003dpy.3 + 16 3080 c.2437G>A c.(2437-2439)GAG>AAG p.E813K ROBO2_uc003dpz.2_Missense_Mutation_p.E817K|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E817K NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 813 Fibronectin type-III 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATACCGGGTAGAGGTTGCAGC 0.438 NA 47 58 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 86114784 86114784 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:86114784C>G uc003dqj.2 + 9 1719 c.1093C>G c.(1093-1095)CCT>GCT p.P365A CADM2_uc003dqk.2_Missense_Mutation_p.P334A|CADM2_uc003dql.2_Missense_Mutation_p.P367A NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 365 Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CCAGAATGGCCCTGACCATGC 0.403 NA 37 37 0 0 0 0 PROS1 5627 broad.mit.edu 37 3 93615516 93615516 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:93615516G>A uc003drb.3 - 9 1210 c.869C>T c.(868-870)CCC>CTC p.P290L PROS1_uc010hoo.2_Missense_Mutation_p.P159L|PROS1_uc003dqz.3_Missense_Mutation_p.P159L NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 290 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AAGGTTCAAGGGAAGGCACAC 0.368 NA 60 176 0 0 0 0 COL8A1 1295 broad.mit.edu 37 3 99514875 99514875 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:99514875C>A uc003dtg.1 + 5 2375 c.2130C>A c.(2128-2130)CCC>CCA p.P710P COL8A1_uc003dth.1_Silent_p.P710P|COL8A1_uc003dti.1_Silent_p.P711P NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 710 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 TGCTCAGGCCCGGAGACCGGG 0.542 NA 27 76 1.18e-12 1.54e-12 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101572505 101572505 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:101572505A>T uc003dvp.2 + 5 1250 c.1135A>T c.(1135-1137)AGC>TGC p.S379C NFKBIZ_uc003dvo.2_Missense_Mutation_p.S279C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S279C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S257C NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 379 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 CATGATGCCCAGCAGCGCCTG 0.493 NA 64 139 0 0 0 0 SIDT1 54847 broad.mit.edu 37 3 113323815 113323815 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:113323815T>A uc003eak.2 + 14 2047 c.1396T>A c.(1396-1398)TAT>AAT p.Y466N SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.Y466N|SIDT1_uc011big.1_Missense_Mutation_p.Y219N|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 466 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 GGTCATTACCTATCAGACAGT 0.498 NA 35 103 0 0 0 0 DRD3 1814 broad.mit.edu 37 3 113858352 113858352 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:113858352G>T uc003ebd.2 - 6 1141 c.718C>A c.(718-720)CAG>AAG p.Q240K DRD3_uc010hqn.1_Missense_Mutation_p.Q240K|DRD3_uc003ebb.1_Missense_Mutation_p.Q240K|DRD3_uc003ebc.1_Missense_Mutation_p.Q240K NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 240 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CTTACTTGCTGGGGGAAGCCA 0.512 NA 75 212 1.43e-34 2.13e-34 1 0 FSTL1 11167 broad.mit.edu 37 3 120121736 120121736 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:120121736C>T uc003eds.2 - 9 899 c.724G>A c.(724-726)GAT>AAT p.D242N FSTL1_uc011bjh.1_Missense_Mutation_p.D207N NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 242 VWFC. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) TCAGCTCCATCTGCATACGTT 0.537 NA 52 130 0 0 0 0 POLQ 10721 broad.mit.edu 37 3 121195496 121195496 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:121195496C>A uc003eee.3 - 20 6425 c.6296G>T c.(6295-6297)TGT>TTT p.C2099F POLQ_uc003eed.2_Missense_Mutation_p.C1271F NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2099 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CTGACTTTCACATTCTGCAGT 0.428 NA DNA_polymerases_(catalytic_subunits) 32 81 1.75e-11 2.25e-11 1 0 SEC61A1 29927 broad.mit.edu 37 3 127783719 127783719 + Splice_Site SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:127783719G>A uc003ekb.2 + 8 801 c.617_splice c.e8-1 p.G206_splice RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Splice_Site_p.G153_splice|SEC61A1_uc003ekd.2_Splice_Site_p.G86_splice|SEC61A1_uc003ekg.2_5'Flank NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 TCTGCCAACAGGAATGGAATT 0.468 NA 36 67 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130285860 130285860 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:130285860C>A uc010htl.2 + 4 1628 c.1597C>A c.(1597-1599)CGA>AGA p.R533R NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 533 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AAAGAAGCAGCGAGGAAACAA 0.483 NA 38 112 6.53e-20 9.15e-20 1 0 MED12L 116931 broad.mit.edu 37 3 150911327 150911327 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:150911327G>T uc003eyp.2 + 14 2057 c.2019G>T c.(2017-2019)TTG>TTT p.L673F MED12L_uc011bnz.1_Missense_Mutation_p.L533F|MED12L_uc003eyn.2_Missense_Mutation_p.L708F|MED12L_uc003eyo.2_Missense_Mutation_p.L673F NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 673 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACACTTCGTTGGGCAGAAGAA 0.388 NA 97 97 2.15e-58 3.29e-58 1 0 SI 6476 broad.mit.edu 37 3 164741477 164741477 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:164741477C>T uc003fei.2 - 26 3042 c.2980G>A c.(2980-2982)GGT>AGT p.G994S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 994 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCTGTTATACCCATGGATGAA 0.403 NA HNSCC(35;0.089) 46 142 0 0 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169546666 169546666 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:169546666G>T uc003fgb.2 + 2 1140 c.1140G>T c.(1138-1140)GGG>GGT p.G380G NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 380 LRR 16. 0 TATACATTGGGCAAGACCAGG 0.438 NA 36 167 9.46e-24 1.36e-23 1 0 TNIK 23043 broad.mit.edu 37 3 170912383 170912383 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:170912383C>G uc003fhh.2 - 5 693 c.348G>C c.(346-348)CTG>CTC p.L116L TNIK_uc003fhi.2_Silent_p.L116L|TNIK_uc003fhj.2_Silent_p.L116L|TNIK_uc003fhk.2_Silent_p.L116L|TNIK_uc003fhl.2_Silent_p.L116L|TNIK_uc003fhm.2_Silent_p.L116L|TNIK_uc003fhn.2_Silent_p.L116L|TNIK_uc003fho.2_Silent_p.L116L NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 116 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TGTTCTTGATCAGGTCGGTGA 0.468 NA 173 197 0 0 0 0 PCGF3 10336 broad.mit.edu 37 4 737282 737282 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:737282G>C uc011bva.1 + 8 758 c.283G>C c.(283-285)GAG>CAG p.E95Q PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.E95Q|PCGF3_uc010ibh.2_Missense_Mutation_p.E95Q|PCGF3_uc003gbg.1_Missense_Mutation_p.E61Q|PCGF3_uc003gbh.2_Missense_Mutation_p.E61Q NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN ring finger protein 3 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding 0 AAAGCAGAGGGAGTTCTATCA 0.468 NA 8 38 0 0 0 0 CPLX1 10815 broad.mit.edu 37 4 786337 786337 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:786337C>A uc003gbi.2 - 3 282 c.91G>T c.(91-93)GCC>TCC p.A31S CPLX1_uc003gbj.2_Missense_Mutation_p.A31S NM_006651 NP_006642 O14810 CPLX1_HUMAN complexin 1 31 Potential. glutamate secretion cytosol 0 Colorectal(103;0.187) TCCTTCTTGGCGGCGTCTGGG 0.657 NA 31 113 4.32e-10 5.45e-10 1 0 ZFYVE28 57732 broad.mit.edu 37 4 2306406 2306406 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:2306406G>T uc003gex.1 - 8 1980 c.1661C>A c.(1660-1662)ACT>AAT p.T554N ZFYVE28_uc011bvk.1_Missense_Mutation_p.T484N|ZFYVE28_uc011bvl.1_Missense_Mutation_p.T524N|ZFYVE28_uc003gew.1_Missense_Mutation_p.T440N NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 554 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GGTGGCCCCAGTGCTAAGCTT 0.687 NA 7 51 7.48e-07 8.86e-07 1 0 NOP14 8602 broad.mit.edu 37 4 2940652 2940652 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:2940652G>A uc003ggj.1 - 18 2552 c.2480C>T c.(2479-2481)GCG>GTG p.A827V C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Missense_Mutation_p.A827V NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 827 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 CTTTCTTTCCGCATCCCTAAA 0.428 NA 4 134 0 0 0 0 PI4K2B 55300 broad.mit.edu 37 4 25256888 25256888 + Splice_Site SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:25256888G>A uc003grk.2 + 3 757 c.624_splice c.e3+1 p.K208_splice PI4K2B_uc011bxs.1_Splice_Site_p.K112_splice NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) TAAAACAAAGGTAAGCCAGAC 0.403 NA 29 107 0 0 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780751 25780751 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:25780751G>A uc003gru.3 - 16 2684 c.2532C>T c.(2530-2532)TAC>TAT p.Y844Y SEL1L3_uc003grv.2_Silent_p.Y251Y NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 844 Sel1-like 7. integral to membrane binding 0 CTGTGATATAGTAGAGAGAAC 0.443 NA 24 114 0 0 0 0 TMEM165 55858 broad.mit.edu 37 4 56283323 56283323 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:56283323G>C uc003hax.2 + 3 785 c.518G>C c.(517-519)AGA>ACA p.R173T TMEM165_uc011bzy.1_Missense_Mutation_p.R110T NM_018475 NP_060945 Q9HC07 TM165_HUMAN transmembrane protein 165 173 integral to membrane 0 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) TTTGGCATTAGAATGCTTCGG 0.398 NA 37 178 0 0 0 0 TMEM165 55858 broad.mit.edu 37 4 56283406 56283406 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:56283406G>C uc003hax.2 + 3 868 c.601G>C c.(601-603)GAT>CAT p.D201H TMEM165_uc011bzy.1_Missense_Mutation_p.D138H NM_018475 NP_060945 Q9HC07 TM165_HUMAN transmembrane protein 165 201 integral to membrane 0 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) AAAGAAGAAAGATGAAGAAGT 0.438 NA 26 118 0 0 0 0 NPFFR2 10886 broad.mit.edu 37 4 72897871 72897871 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:72897871G>A uc003hgg.2 + 1 351 c.253G>A c.(253-255)GCT>ACT p.A85T NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 85 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CTGCAGACGGGCTTGGTGGAT 0.672 NA 14 29 0 0 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012843 73012843 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:73012843A>G uc003hgg.2 + 4 981 c.883A>G c.(883-885)AGA>GGA p.R295G NPFFR2_uc010iig.1_Missense_Mutation_p.R77G|NPFFR2_uc003hgi.2_Missense_Mutation_p.R196G|NPFFR2_uc003hgh.2_Missense_Mutation_p.R193G|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 295 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TTACCGAGTGAGACTCAACTC 0.438 NA 87 212 0 0 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82380494 82380494 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:82380494A>T uc003hmi.1 - 2 313 c.169T>A c.(169-171)TAT>AAT p.Y57N RASGEF1B_uc003hmj.1_Missense_Mutation_p.Y57N|RASGEF1B_uc010ijq.1_Missense_Mutation_p.Y57N|RASGEF1B_uc003hmk.2_Missense_Mutation_p.Y57N NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 57 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 ACATCTGGATAGTAATCCACA 0.428 NA 89 173 0 0 0 0 AFF1 4299 broad.mit.edu 37 4 88036203 88036203 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:88036203G>A uc003hqj.3 + 11 2604 c.2197G>A c.(2197-2199)GAC>AAC p.D733N AFF1_uc011ccz.1_Missense_Mutation_p.D740N|AFF1_uc003hqk.3_Missense_Mutation_p.D733N|AFF1_uc011cda.1_Missense_Mutation_p.D371N NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 733 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GGTCCAGGAGGACAGCCGCAA 0.607 NA 16 30 0 0 0 0 C4orf21 55345 broad.mit.edu 37 4 113540786 113540786 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:113540786C>A uc003iau.2 - 6 623 c.412G>T c.(412-414)GCT>TCT p.A138S C4orf21_uc003iaw.2_Missense_Mutation_p.A138S NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TGTGATGCAGCTGATTCACCA 0.388 NA 37 105 4.18e-13 5.5e-13 1 0 ANK2 287 broad.mit.edu 37 4 114238951 114238951 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:114238951A>G uc003ibe.3 + 25 2882 c.2782A>G c.(2782-2784)ATT>GTT p.I928V ANK2_uc003ibd.3_Missense_Mutation_p.I907V|ANK2_uc003ibf.3_Missense_Mutation_p.I928V|ANK2_uc011cgc.1_Missense_Mutation_p.I137V|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.I904V|ANK2_uc011cgb.1_Missense_Mutation_p.I943V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 928 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTCAGTTGTGATTCCCAGTCA 0.473 NA 37 69 0 0 0 0 GYPA 2993 broad.mit.edu 37 4 145039886 145039886 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:145039886G>T uc003ijo.3 - 4 368 c.252C>A c.(250-252)GCC>GCA p.A84A GYPA_uc003ijn.2_Silent_p.A84A|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.A51A|GYPA_uc003ijp.3_Silent_p.A52A|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Silent_p.A19A|GYPA_uc010ios.1_Intron NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 84 Extracellular. A -> P (in ENEP/HAG antigen). interspecies interaction between organisms membrane fraction receptor activity p.A84T(1) central_nervous_system(2) 2 all_hematologic(180;0.15) AGAAATGATGGGCAAGTTGTA 0.313 NA 44 129 8.3e-39 1.25e-38 1 0 DCHS2 54798 broad.mit.edu 37 4 155256095 155256095 + Nonsense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:155256095T>A uc003inw.2 - 8 1141 c.1141A>T c.(1141-1143)AAG>TAG p.K381* DCHS2_uc003inx.2_Nonsense_Mutation_p.K880* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 381 Cadherin 3.|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AAAGTGTACTTAGGCCTTTCA 0.448 NA 60 115 0 0 0 0 DDX60 55601 broad.mit.edu 37 4 169201720 169201720 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:169201720C>A uc003irp.2 - 14 2036 c.1744G>T c.(1744-1746)GCT>TCT p.A582S NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 582 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTCTCTCTAGCAATTATTTCA 0.348 NA 20 57 0.000229342 0.000253114 1 0 DDX60L 91351 broad.mit.edu 37 4 169348297 169348297 + Silent SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:169348297A>G uc003irq.3 - 14 2075 c.1854T>C c.(1852-1854)AAT>AAC p.N618N DDX60L_uc003irr.1_Silent_p.N618N|DDX60L_uc003irs.1_Silent_p.N345N NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 618 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ATTTCACTGAATTACTTGCAC 0.353 NA 14 26 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175896751 175896751 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:175896751C>T uc003iuc.2 + 5 745 c.75C>T c.(73-75)CCC>CCT p.P25P ADAM29_uc003iud.2_Silent_p.P25P|ADAM29_uc010irr.2_Silent_p.P25P|ADAM29_uc011cki.1_Silent_p.P25P NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 25 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATGAGCACCCCCAATATCACA 0.517 NA 51 114 0 0 0 0 ASB5 140458 broad.mit.edu 37 4 177142615 177142615 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:177142615T>C uc003iuq.1 - 4 537 c.521A>G c.(520-522)GAG>GGG p.E174G ASB5_uc003iup.1_Missense_Mutation_p.E121G NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 174 ANK 4. 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) ACTGGCGGCCTCATGCGTTGG 0.493 NA 42 219 0 0 0 0 NEIL3 55247 broad.mit.edu 37 4 178283595 178283595 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:178283595G>T uc003iut.2 + 10 1905 c.1788G>T c.(1786-1788)GGG>GGT p.G596G NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 596 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CAGAAAATGGGCCAGGAATAA 0.363 NA BER_DNA_glycosylases 51 123 1.04e-30 1.53e-30 1 0 LPCAT1 79888 broad.mit.edu 37 5 1474683 1474683 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:1474683C>A uc003jcm.2 - 10 1134 c.1017G>T c.(1015-1017)CGG>CGT p.R339R NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 339 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) ACCCGAGGCCCCGCACGAGCC 0.612 NA 24 24 9.86e-18 1.36e-17 1 0 ADCY2 108 broad.mit.edu 37 5 7727344 7727344 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:7727344T>A uc003jdz.1 + 14 1908 c.1841T>A c.(1840-1842)ATC>AAC p.I614N ADCY2_uc011cmo.1_Missense_Mutation_p.I434N NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 614 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTCTTCTGCATCTTCATTGTG 0.493 NA 67 80 0 0 0 0 CCT5 22948 broad.mit.edu 37 5 10262656 10262656 + Missense_Mutation SNP G G A rs11557654 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:10262656G>A uc003jeq.2 + 9 1414 c.1243G>A c.(1243-1245)GAT>AAT p.D415N CCT5_uc003jer.2_Missense_Mutation_p.D415N|CCT5_uc010its.2_Missense_Mutation_p.D415N|CCT5_uc011cmr.1_Missense_Mutation_p.D360N|CCT5_uc011cms.1_Missense_Mutation_p.D377N|CCT5_uc011cmt.1_Missense_Mutation_p.D322N NM_012073 NP_036205 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 415 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding ovary(2) 2 CCTCATCCGCGATAATCGTGT 0.493 NA 30 135 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13721328 13721328 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:13721328C>A uc003jfd.2 - 71 12102 c.12060G>T c.(12058-12060)ATG>ATT p.M4020I DNAH5_uc003jfc.2_Missense_Mutation_p.M188I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4020 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATTTTTCTCCCATGGAGTCCA 0.393 NA Kartagener_syndrome 71 81 2.3e-22 3.26e-22 1 0 DNAH5 1767 broad.mit.edu 37 5 13792157 13792157 + Silent SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:13792157A>G uc003jfd.2 - 50 8436 c.8394T>C c.(8392-8394)TCT>TCC p.S2798S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2798 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCCAGACCCGAGAAAGATCTC 0.408 NA Kartagener_syndrome 13 80 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21755861 21755861 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:21755861C>G uc010iuc.2 - 11 2182 c.1724G>C c.(1723-1725)AGC>ACC p.S575T CDH12_uc011cno.1_Missense_Mutation_p.S535T|CDH12_uc003jgk.2_Missense_Mutation_p.S575T|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 575 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GACAGGGTAGCTGCTGTCTTC 0.453 NA HNSCC(59;0.17) 31 139 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23522816 23522816 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:23522816C>G uc003jgo.2 + 8 886 c.704C>G c.(703-705)CCC>CGC p.P235R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 235 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAGGGGCACCCCAACCGTTCA 0.562 NA HNSCC(3;0.000094) 30 55 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23527713 23527713 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:23527713G>A uc003jgo.2 + 11 2698 c.2516G>A c.(2515-2517)CGG>CAG p.R839Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 839 C2H2-type 13. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GAGTGTGGGCGGGGCTTTCGC 0.592 NA HNSCC(3;0.000094) 70 188 0 0 0 0 PRLR 5618 broad.mit.edu 37 5 35065550 35065550 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:35065550C>A uc003jjm.2 - 10 2040 c.1510G>T c.(1510-1512)GCT>TCT p.A504S PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A403S NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 504 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGGGTTTAGCGGAGCCAAAG 0.522 NA 72 160 4.15e-37 6.2e-37 1 0 LIFR 3977 broad.mit.edu 37 5 38486048 38486048 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:38486048G>A uc010ive.1 - 17 2702 c.2370C>T c.(2368-2370)GAC>GAT p.D790D LIFR_uc003jli.2_Silent_p.D790D NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 790 Fibronectin type-III 6.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TCTGGGATATGTCAGTAATAT 0.408 NA T PLAG1 salivary adenoma 14 74 0 0 0 0 FYB 2533 broad.mit.edu 37 5 39135036 39135036 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:39135036C>T uc003jls.2 - 7 1663 c.1596G>A c.(1594-1596)AAG>AAA p.K532K FYB_uc003jlt.2_Silent_p.K532K|FYB_uc003jlu.2_Silent_p.K532K|FYB_uc011cpl.1_Silent_p.K542K NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 532 SH3. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GCTCTCCTTGCTTGAAGCTCA 0.423 NA 60 85 0 0 0 0 C7 730 broad.mit.edu 37 5 40931225 40931225 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:40931225G>A uc003jmh.2 + 3 236 c.122G>A c.(121-123)GGC>GAC p.G41D C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 41 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GAATGCAATGGCTGTACCAAG 0.423 NA 25 54 0 0 0 0 MSH3 4437 broad.mit.edu 37 5 80168934 80168934 + Splice_Site SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:80168934G>T uc003kgz.2 + 23 3384 c.3131_splice c.e23-1 p.G1044_splice NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TTATTTCACAGGCGCAGCAGA 0.363 NA MMR 38 120 4.18e-13 5.5e-13 1 0 MEF2C 4208 broad.mit.edu 37 5 88027668 88027668 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:88027668C>T uc003kjj.2 - 7 1361 c.688G>A c.(688-690)GGT>AGT p.G230S MEF2C_uc003kji.2_Missense_Mutation_p.G230S|MEF2C_uc003kjk.2_Missense_Mutation_p.G230S|MEF2C_uc003kjm.2_Missense_Mutation_p.G228S|MEF2C_uc003kjl.2_Missense_Mutation_p.G248S NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 230 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TTCAAGTTACCAGGTGAGACC 0.423 NA HNSCC(66;0.2) 10 36 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90073745 90073745 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:90073745T>C uc003kju.2 + 62 12647 c.12551T>C c.(12550-12552)TTG>TCG p.L4184S GPR98_uc003kjt.2_Missense_Mutation_p.L1890S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4184 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCAGGGATTTTGGGGGAGGTC 0.423 NA 13 43 0 0 0 0 MCTP1 79772 broad.mit.edu 37 5 94619883 94619883 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:94619883C>A uc003kkx.2 - 1 397 c.397G>T c.(397-399)GTA>TTA p.V133L NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 133 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GGCCCCTTTACGGCGGGGAGC 0.602 NA 4 5 1.24e-05 1.42e-05 1 0 SLCO4C1 353189 broad.mit.edu 37 5 101597728 101597728 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:101597728G>T uc003knm.2 - 5 1196 c.909C>A c.(907-909)GTC>GTA p.V303V NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 303 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CATCCTCAGTGACATCAGTGC 0.358 NA 13 52 1.58e-08 1.94e-08 1 0 PPIP5K2 23262 broad.mit.edu 37 5 102491630 102491630 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:102491630G>A uc003kod.3 + 14 1940 c.1421G>A c.(1420-1422)GGA>GAA p.G474E PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G474E|PPIP5K2_uc010jbo.1_Missense_Mutation_p.G396E NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 474 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 CATTTTTCTGGAATAAATCGT 0.333 NA 18 34 0 0 0 0 STARD4 134429 broad.mit.edu 37 5 110835766 110835766 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:110835766C>T uc003kph.1 - 6 520 c.436G>A c.(436-438)GTT>ATT p.V146I STARD4_uc010jbw.1_Missense_Mutation_p.V48I|STARD4_uc010jbx.1_Missense_Mutation_p.V48I|STARD4_uc003kpi.1_RNA NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 146 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TATCCTCGAACAAATTCTGGT 0.363 NA 23 72 0 0 0 0 AQPEP 206338 broad.mit.edu 37 5 115298688 115298688 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:115298688T>C uc003kro.2 + 1 538 c.374T>C c.(373-375)TTG>TCG p.L125S AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 125 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 GCCGGGTCTTTGCCCTTCACT 0.687 NA 28 87 0 0 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630517 131630517 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:131630517C>A uc003kwq.2 + 1 373 c.208C>A c.(208-210)CGG>AGG p.R70R uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 70 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGTCCCGCTGCGGCTGCGGGA 0.721 NA 6 23 2.01e-06 2.34e-06 1 0 MYOT 9499 broad.mit.edu 37 5 137206561 137206561 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:137206561A>T uc011cye.1 + 2 238 c.221A>T c.(220-222)AAG>ATG p.K74M MYOT_uc003lbv.2_Missense_Mutation_p.Q74L|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 74 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTTCTCCCAAGCAGCATGCT 0.532 NA 32 80 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175845 140175845 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140175845G>A uc003lhd.2 + 1 1402 c.1296G>A c.(1294-1296)TCG>TCA p.S432S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S432S|PCDHA2_uc011czy.1_Silent_p.S432S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 432 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGGGGCTCGCCTTCACTGT 0.627 NA 28 78 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182638 140182638 + Missense_Mutation SNP G G A rs146046778 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140182638G>A uc003lhf.2 + 1 1856 c.1856G>A c.(1855-1857)CGC>CAC p.R619H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.R619H NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 619 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGTGCGCGCATCCCGTTT 0.672 NA 4 70 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203530 140203530 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140203530G>T uc003lhl.2 + 1 2170 c.2170G>T c.(2170-2172)GCG>TCG p.A724S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A724S|PCDHA5_uc003lhj.1_Missense_Mutation_p.A724S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 724 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGTGCTCGGCGCAGCCCAC 0.657 NA 24 52 4.78e-09 5.92e-09 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215375 140215375 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140215375G>T uc003lhq.2 + 1 1407 c.1407G>T c.(1405-1407)CCG>CCT p.P469P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.P469P NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 469 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding p.P469P(1) ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCGCCGGGCTGCC 0.682 NA 17 47 9.58e-11 1.22e-10 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140389511 140389511 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140389511A>T uc003lii.2 + 4 3253 c.3013A>T c.(3013-3015)AGT>TGT p.S1005C PCDHA1_uc003lha.2_Missense_Mutation_p.S684C|PCDHA1_uc003lhb.2_Missense_Mutation_p.S948C|PCDHA2_uc003lhd.2_Missense_Mutation_p.S946C|PCDHA3_uc003lhf.2_Missense_Mutation_p.S948C|PCDHA4_uc003lhi.2_Missense_Mutation_p.S945C|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Missense_Mutation_p.S934C|PCDHA6_uc003lhn.2_Missense_Mutation_p.S684C|PCDHA6_uc003lho.2_Missense_Mutation_p.S948C|PCDHA7_uc003lhq.2_Missense_Mutation_p.S935C|PCDHA8_uc003lhs.2_Missense_Mutation_p.S948C|PCDHA9_uc003lhu.2_Missense_Mutation_p.S948C|PCDHA10_uc003lhw.2_Missense_Mutation_p.S683C|PCDHA10_uc003lhx.2_Missense_Mutation_p.S946C|PCDHA11_uc003lia.2_Missense_Mutation_p.S947C|PCDHA12_uc003lic.2_Missense_Mutation_p.S939C|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Missense_Mutation_p.S948C|PCDHAC1_uc003lih.2_Missense_Mutation_p.S961C NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 1005 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTGACAACAGTGACCAGTG 0.363 NA 32 81 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531310 140531310 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140531310C>A uc003lir.2 + 1 1472 c.1472C>A c.(1471-1473)CCC>CAC p.P491H PCDHB6_uc011dah.1_Missense_Mutation_p.P355H NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 491 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCTGCCGCCCCAGGACCCG 0.657 NA 17 118 4.35e-09 5.42e-09 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589727 140589727 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140589727G>A uc003liz.2 + 1 1437 c.1248G>A c.(1246-1248)GAG>GAA p.E416E PCDHB12_uc011dak.1_Silent_p.E79E NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 416 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGAGCCGAGTACAACATCA 0.522 NA 18 60 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711622 140711622 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140711622C>A uc003lji.1 + 1 1371 c.1371C>A c.(1369-1371)TAC>TAA p.Y457* PCDHGA1_uc011dan.1_Nonsense_Mutation_p.Y457* NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 457 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACTCCTACTCTGCCTACA 0.478 NA 38 103 1.04e-10 1.33e-10 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723908 140723908 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140723908T>A uc003ljm.1 + 1 308 c.308T>A c.(307-309)CTG>CAG p.L103Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.L103Q NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 103 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCTGTGTCTGGTAAAAATT 0.433 NA 19 49 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768224 140768224 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:140768224G>T uc003lkc.1 + 1 773 c.773G>T c.(772-774)GGG>GTG p.G258V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.G258V NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 258 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTACCCGGGGACCACGGTG 0.498 NA 44 150 1.3e-32 1.93e-32 1 0 SH3TC2 79628 broad.mit.edu 37 5 148427468 148427468 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:148427468C>G uc003lpu.2 - 3 388 c.236G>C c.(235-237)TGG>TCG p.W79S SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.W79S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.W79S NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 79 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAGTGCCCAGAGCCGCCT 0.393 NA 40 139 0 0 0 0 IL12B 3593 broad.mit.edu 37 5 158750296 158750296 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:158750296C>A uc003lxr.1 - 3 172 c.130G>T c.(130-132)GAA>TAA p.E44* NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 44 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCACCATTTCTCCAGGGGCA 0.413 NA 13 35 1.58e-08 1.94e-08 1 0 NSD1 64324 broad.mit.edu 37 5 176638275 176638275 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:176638275G>T uc003mfr.3 + 5 3013 c.2875G>T c.(2875-2877)GGA>TGA p.G959* NSD1_uc003mft.3_Nonsense_Mutation_p.G690*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G856*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G607* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 959 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTTGGTTTCAGGAGGCTCCAC 0.512 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 12 39 6.4e-05 7.16e-05 1 0 NSD1 64324 broad.mit.edu 37 5 176707725 176707725 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr5:176707725G>T uc003mfr.3 + 18 5920 c.5782G>T c.(5782-5784)GGA>TGA p.G1928* NSD1_uc003mft.3_Nonsense_Mutation_p.G1659*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G1825*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G1576* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1928 AWS. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTGTCCTGCCGGAGGGCGCTG 0.512 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 17 63 3.41e-10 4.32e-10 1 0 HIST1H3B 8358 broad.mit.edu 37 6 26032089 26032089 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:26032089G>C uc003nfs.1 - 1 200 c.200C>G c.(199-201)CCG>CGG p.P67R NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 67 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 GCGCTGGAACGGCAGCTTCCG 0.617 NA 12 138 0 0 0 0 BTN3A3 10384 broad.mit.edu 37 6 26451920 26451920 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:26451920C>A uc003nhz.2 + 11 1216 c.1036C>A c.(1036-1038)CCA>ACA p.P346T BTN3A3_uc003nia.2_Missense_Mutation_p.P304T|BTN3A3_uc011dkn.1_Missense_Mutation_p.P297T NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 346 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 GATTCTGGATCCAGACACGGC 0.552 NA 24 43 2.89e-11 3.71e-11 1 0 ZNF192 7745 broad.mit.edu 37 6 28120855 28120855 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:28120855A>G uc003nkn.1 + 6 981 c.797A>G c.(796-798)AAC>AGC p.N266S ZNF192_uc010jqx.1_Missense_Mutation_p.N266S|ZNF192_uc010jqy.1_Missense_Mutation_p.N79S|ZNF192_uc011dkz.1_Missense_Mutation_p.N79S NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 266 KRAB. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGGAGTGAGAACAGGGAATTA 0.418 NA 17 112 0 0 0 0 SCAND3 114821 broad.mit.edu 37 6 28547174 28547174 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:28547174T>G uc003nlo.2 - 2 1061 c.443A>C c.(442-444)CAG>CCG p.Q148P NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 148 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGAAACTTCCTGCCCATATGT 0.408 NA 20 136 0 0 0 0 OR14J1 442191 broad.mit.edu 37 6 29275361 29275361 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:29275361C>A uc011dln.1 + 1 895 c.895C>A c.(895-897)CTG>ATG p.L299M NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAAGGCAGCACTGAGGAAGAT 0.303 NA 83 97 4e-42 6.07e-42 1 0 OR10C1 442194 broad.mit.edu 37 6 29408401 29408401 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:29408401C>A uc011dlp.1 + 1 609 c.609C>A c.(607-609)GCC>GCA p.A203A OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGCAACAGCCCTCCTCATCC 0.577 NA 121 238 2.75e-45 4.18e-45 1 0 TAP2 6891 broad.mit.edu 37 6 32805816 32805816 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:32805816C>G uc003occ.2 - 1 226 c.195G>C c.(193-195)CTG>CTC p.L65L TAP2_uc011dqf.1_Silent_p.L65L|TAP2_uc003ocb.1_Silent_p.L65L|TAP2_uc003ocd.2_Silent_p.L65L NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 65 Helical; Name=2; (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GCGGGAGCAGCAGTGTCCCCA 0.672 NA 24 98 0 0 0 0 PIM1 5292 broad.mit.edu 37 6 37138806 37138806 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:37138806T>C uc003onk.2 + 3 669 c.239T>C c.(238-240)CTG>CCG p.L80P PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 171 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) TGGGGAGAGCTGGTGAGTGCC 0.677 NA T BCL6 NHL 4 131 0 0 0 0 MEP1A 4224 broad.mit.edu 37 6 46800982 46800982 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:46800982G>A uc010jzh.1 + 11 1358 c.1316G>A c.(1315-1317)CGG>CAG p.R439Q MEP1A_uc011dwg.1_Missense_Mutation_p.R161Q|MEP1A_uc011dwh.1_Missense_Mutation_p.R467Q|MEP1A_uc011dwi.1_Missense_Mutation_p.R339Q NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 439 MATH.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TGGACAGTCCGGAATTTCTCC 0.512 NA 32 103 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51732776 51732776 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:51732776G>C uc003pah.1 - 48 7894 c.7618C>G c.(7618-7620)CTT>GTT p.L2540V PKHD1_uc010jzn.1_Missense_Mutation_p.L523V|PKHD1_uc003pai.2_Missense_Mutation_p.L2540V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2540 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATAGAAGCAAGAATGTGACTT 0.438 NA 12 78 0 0 0 0 DST 667 broad.mit.edu 37 6 56496758 56496758 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:56496758G>A uc003pdf.2 - 28 3815 c.3787C>T c.(3787-3789)CGG>TGG p.R1263W DST_uc003pcz.3_Missense_Mutation_p.R1085W|DST_uc011dxj.1_Missense_Mutation_p.R1114W|DST_uc011dxk.1_Missense_Mutation_p.R1125W|DST_uc003pcy.3_Missense_Mutation_p.R759W|DST_uc003pdb.2_Missense_Mutation_p.R759W|DST_uc003pdc.3_Missense_Mutation_p.R759W|DST_uc003pdd.3_Missense_Mutation_p.R759W NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1085 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTAATCAGCCGATCTTCACAG 0.388 NA 35 103 0 0 0 0 BAI3 577 broad.mit.edu 37 6 69646437 69646438 + Missense_Mutation DNP CA CA TC TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:69646437_69646438CA>TC uc003pev.3 + 5 1343_1344 c.895_896CA>TC c.(895-897)CAG>TCG p.Q299S BAI3_uc010kak.2_Missense_Mutation_p.Q299S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 299 TSP type-1 1.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGAGTGGTCCCAGTGGAGCACA 0.46 NA 19 26 0 0 0 0 C6orf221 154288 broad.mit.edu 37 6 74073333 74073333 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:74073333G>A uc003pgt.3 + 3 457 c.404G>A c.(403-405)CGG>CAG p.R135Q NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 135 skin(2) 2 GAGACCCAGCGGTCTTCAATA 0.637 NA 21 85 0 0 0 0 LCA5 167691 broad.mit.edu 37 6 80201313 80201313 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:80201313G>A uc003pix.2 - 6 1525 c.1090C>T c.(1090-1092)CTT>TTT p.L364F LCA5_uc003piy.2_Missense_Mutation_p.L364F|LCA5_uc011dyq.1_RNA NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 364 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) ACCAAAGTAAGATGTCCTGGT 0.343 NA 40 197 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90472244 90472244 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:90472244T>G uc003pnn.1 - 16 2266 c.2150A>C c.(2149-2151)AAA>ACA p.K717T MDN1_uc003pno.1_Missense_Mutation_p.K135T NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 717 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTCCACCGGTTTATAACTGAA 0.408 NA 17 72 0 0 0 0 FHL5 9457 broad.mit.edu 37 6 97051592 97051592 + Missense_Mutation SNP C C A rs138154376 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:97051592C>A uc003pos.1 + 3 508 c.103C>A c.(103-105)CGT>AGT p.R35S FHL5_uc003pot.1_Missense_Mutation_p.R35S NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 35 nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) ATGTTATGATCGTGTATTTTC 0.368 NA 47 100 3.05e-18 4.25e-18 1 0 FHL5 9457 broad.mit.edu 37 6 97053872 97053872 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:97053872C>A uc003pos.1 + 5 834 c.429C>A c.(427-429)ATC>ATA p.I143I FHL5_uc003pot.1_Silent_p.I143I NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 143 LIM zinc-binding 2. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AGCCTTTGATCTCCAAAGAGA 0.413 NA 34 72 3.11e-16 4.23e-16 1 0 KLHL32 114792 broad.mit.edu 37 6 97562024 97562024 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:97562024C>A uc010kcm.1 + 7 1465 c.993C>A c.(991-993)CCC>CCA p.P331P KLHL32_uc003poy.2_Silent_p.P331P|KLHL32_uc011ead.1_Silent_p.P295P|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.P262P|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 331 Kelch 1. P -> S (in Ref. 1; BAB70899). ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AGCTGGCTCCCATGCCTGTGG 0.567 NA 23 89 1.66e-10 2.11e-10 1 0 AIM1 202 broad.mit.edu 37 6 106987308 106987308 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:106987308G>A uc003prh.2 + 7 4012 c.3525G>A c.(3523-3525)CAG>CAA p.Q1175Q AIM1_uc003pri.2_5'Flank NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1175 Beta/gamma crystallin 'Greek key' 4. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CTGGATTTCAGGGTGTTCCTT 0.453 NA 41 188 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112469437 112469437 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:112469437G>T uc003pvu.2 - 18 2584 c.2275C>A c.(2275-2277)CTA>ATA p.L759I LAMA4_uc003pvv.2_Missense_Mutation_p.L752I|LAMA4_uc003pvt.2_Missense_Mutation_p.L752I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 759 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGTTGGTTAGATTGTTGGCC 0.517 NA 27 108 4.78e-09 5.92e-09 1 0 C6orf174 387104 broad.mit.edu 37 6 127797032 127797032 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:127797032G>T uc003qbd.2 - 6 3004 c.2139C>A c.(2137-2139)AAC>AAA p.N713K C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 713 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CGCTGAGCTCGTTGATCTGCA 0.652 NA 31 139 1.07e-11 1.38e-11 1 0 EYA4 2070 broad.mit.edu 37 6 133769305 133769305 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:133769305T>A uc003qec.3 + 5 723 c.265T>A c.(265-267)TCT>ACT p.S89T EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.S89T|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Missense_Mutation_p.S89T|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 89 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAACACCCCCTCTTCTGCAAC 0.453 NA 21 48 0 0 0 0 TBPL1 9519 broad.mit.edu 37 6 134305618 134305618 + Splice_Site SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:134305618G>A uc010kgg.2 + 5 946 c.386_splice c.e5+1 p.S129_splice TBPL1_uc003qel.2_Splice_Site_p.S129_splice NM_004865 NP_004856 P62380 TBPL1_HUMAN TBP-like 1 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter cytoplasm DNA binding|protein binding|transcription coactivator activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848) CTCATGCCAGGTAAGTCTTTG 0.318 NA 19 58 0 0 0 0 AHI1 54806 broad.mit.edu 37 6 135788738 135788738 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:135788738T>C uc003qgi.2 - 6 554 c.170A>G c.(169-171)AAA>AGA p.K57R AHI1_uc003qgh.2_Missense_Mutation_p.K57R|AHI1_uc003qgj.2_Missense_Mutation_p.K57R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K57R NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 57 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTAGTTTCTTTCATATAGTG 0.343 NA 11 39 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596736 136596736 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:136596736G>T uc003qgx.1 - 6 2039 c.1786C>A c.(1786-1788)CAG>AAG p.Q596K BCLAF1_uc003qgw.1_Missense_Mutation_p.Q423K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q594K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q594K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 596 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGCTGGCCTGTGGCAACTTA 0.398 NA 19 289 7.42e-09 9.12e-09 1 0 SHPRH 257218 broad.mit.edu 37 6 146244822 146244822 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:146244822T>A uc003qlf.2 - 18 3901 c.3502A>T c.(3502-3504)AGC>TGC p.S1168C SHPRH_uc003qld.2_Missense_Mutation_p.S1177C|SHPRH_uc003qle.2_Missense_Mutation_p.S1177C|SHPRH_uc003qlg.1_Missense_Mutation_p.S724C|SHPRH_uc003qlh.2_Missense_Mutation_p.S93C|SHPRH_uc003qli.1_Missense_Mutation_p.S93C NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1168 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTGTAGTTGCTGGTTATTTCA 0.358 NA 65 114 0 0 0 0 RAB32 10981 broad.mit.edu 37 6 146865142 146865142 + Nonsense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:146865142C>G uc003qln.1 + 1 315 c.135C>G c.(133-135)TAC>TAG p.Y45* NM_006834 NP_006825 Q13637 RAB32_HUMAN RAB32, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction mitochondrion GTP binding 0 Ovarian(120;0.142) OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608) TCAAGCGCTACGTCCACCAGC 0.557 NA 17 75 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152640010 152640010 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:152640010T>A uc010kiw.2 - 85 16979 c.16377A>T c.(16375-16377)AAA>AAT p.K5459N SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.K5388N|SYNE1_uc003qou.3_Missense_Mutation_p.K5459N|SYNE1_uc010kiz.2_Missense_Mutation_p.K1214N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5459 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTGGTCAGTTTTAGCTTGAA 0.363 NA HNSCC(10;0.0054) 10 50 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152702445 152702445 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:152702445G>C uc010kiw.2 - 56 9307 c.8705C>G c.(8704-8706)TCG>TGG p.S2902W SYNE1_uc003qot.3_Missense_Mutation_p.S2909W|SYNE1_uc003qou.3_Missense_Mutation_p.S2902W|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.S2885W NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2902 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGGAGCCAGCGACTCCACTCT 0.542 NA HNSCC(10;0.0054) 40 245 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155578189 155578189 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:155578189C>G uc003qqb.2 + 29 6313 c.5040C>G c.(5038-5040)GTC>GTG p.V1680V TIAM2_uc003qqe.2_Silent_p.V1680V|TIAM2_uc010kjj.2_Silent_p.V1242V|TIAM2_uc003qqf.2_Silent_p.V1056V|TIAM2_uc011efl.1_Silent_p.V1024V|TIAM2_uc003qqg.2_Silent_p.V992V|TIAM2_uc003qqh.2_Silent_p.V605V|uc003qqi.1_5'Flank NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1680 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AATTCAGTGTCCAGAGTTTAA 0.428 NA 15 75 0 0 0 0 NOX3 50508 broad.mit.edu 37 6 155743931 155743931 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:155743931C>T uc003qqm.2 - 10 1308 c.1205G>A c.(1204-1206)TGT>TAT p.C402Y NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 402 Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AACGCACACACACACTGGGTA 0.532 NA 33 196 0 0 0 0 IGF2R 3482 broad.mit.edu 37 6 160511018 160511018 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:160511018A>G uc003qta.2 + 44 6686 c.6538A>G c.(6538-6540)ATC>GTC p.I2180V NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2180 15.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ACTTTCCTCCATCACAAGCTC 0.512 NA 61 92 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165749685 165749685 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:165749685C>G uc003qun.2 - 22 2405 c.2164G>C c.(2164-2166)GCC>CCC p.A722P PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.A652P|PDE10A_uc003quo.2_Missense_Mutation_p.A732P NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 722 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ATGGCCACGGCATTGTAGAAC 0.453 NA 9 57 0 0 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585706 167585706 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:167585706G>T uc010kkp.2 + 2 205 c.74G>T c.(73-75)GGG>GTG p.G25V NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 25 0 CCGGGAGCTGGGGCTGCCATG 0.652 NA 13 24 1.03e-11 1.33e-11 1 0 C6orf120 387263 broad.mit.edu 37 6 170102735 170102735 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:170102735C>A uc003qxb.2 + 1 479 c.180C>A c.(178-180)AAC>AAA p.N60K WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.N79K NM_001029863 NP_001025034 Q7Z4R8 CF120_HUMAN hypothetical protein LOC387263 precursor 60 extracellular region 0 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) TGCGGCTGAACCACGAGGGCA 0.647 NA 36 60 8.74e-17 1.19e-16 1 0 EIF2AK1 27102 broad.mit.edu 37 7 6066485 6066485 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:6066485C>A uc003spp.2 - 14 1784 c.1638G>T c.(1636-1638)CCG>CCT p.P546P EIF2AK1_uc003spq.2_Silent_p.P545P|EIF2AK1_uc011jwm.1_Silent_p.P422P NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 546 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) GGAGGGATTCCGGCAACTGAC 0.498 NA 66 122 2.19e-23 3.14e-23 1 0 COL28A1 340267 broad.mit.edu 37 7 7400084 7400084 + Missense_Mutation SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:7400084T>G uc003src.1 - 34 3259 c.3142A>C c.(3142-3144)ACC>CCC p.T1048P COL28A1_uc011jxe.1_Missense_Mutation_p.T731P NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 1048 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCAGATGAGGTAGTGGCAGGC 0.517 NA 50 79 0 0 0 0 HDAC9 9734 broad.mit.edu 37 7 18975437 18975437 + Missense_Mutation SNP G G T rs78483718 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:18975437G>T uc003suh.2 + 22 2841 c.2800G>T c.(2800-2802)GGT>TGT p.G934C HDAC9_uc003sue.2_Missense_Mutation_p.G934C|HDAC9_uc003sui.2_Missense_Mutation_p.G937C|HDAC9_uc003suj.2_Missense_Mutation_p.G893C|HDAC9_uc003suk.2_Missense_Mutation_p.G182C NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 934 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGTAGGTTTTGGTCATTTGAC 0.343 NA 86 155 3.01e-42 4.58e-42 1 0 MACC1 346389 broad.mit.edu 37 7 20198323 20198323 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:20198323C>A uc003sus.3 - 5 1970 c.1661G>T c.(1660-1662)GGG>GTG p.G554V MACC1_uc010kug.2_Missense_Mutation_p.G554V NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 554 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 CAGGGTTACCCCATAGTTGCT 0.378 NA 38 248 6.34e-27 9.21e-27 1 0 AMPH 273 broad.mit.edu 37 7 38431464 38431464 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:38431464T>A uc003tgu.2 - 19 1832 c.1763A>T c.(1762-1764)CAG>CTG p.Q588L AMPH_uc003tgv.2_Missense_Mutation_p.Q546L|AMPH_uc003tgt.2_Missense_Mutation_p.Q473L|AMPH_uc003tgw.1_Missense_Mutation_p.Q611L|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 588 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GATAGGCTTCTGCTCCGTAGC 0.622 NA 24 30 0 0 0 0 AMPH 273 broad.mit.edu 37 7 38530704 38530704 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:38530704C>G uc003tgu.2 - 5 411 c.342G>C c.(340-342)GTG>GTC p.V114V AMPH_uc003tgv.2_Silent_p.V114V NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 114 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 AGGACCCATCCACGAGTTTTT 0.403 NA 140 211 0 0 0 0 GCK 2645 broad.mit.edu 37 7 44184836 44184836 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:44184836T>A uc003tkl.2 - 10 1767 c.1297A>T c.(1297-1299)AGC>TGC p.S433C GCK_uc003tkh.1_Missense_Mutation_p.S106C|GCK_uc003tki.1_Missense_Mutation_p.S111C|GCK_uc003tkj.1_Missense_Mutation_p.S432C|GCK_uc003tkk.1_Missense_Mutation_p.S434C NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 433 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 ATCTCGCAGCTGGGCGTCAGC 0.657 NA 15 25 0 0 0 0 CAMK2B 816 broad.mit.edu 37 7 44259804 44259804 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:44259804T>A uc003tkq.2 - 23 2068 c.1858A>T c.(1858-1860)ATC>TTC p.I620F CAMK2B_uc003tkp.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkx.2_Missense_Mutation_p.I456F|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I472F|CAMK2B_uc003tks.2_Missense_Mutation_p.I471F|CAMK2B_uc003tku.2_Missense_Mutation_p.I457F|CAMK2B_uc003tkv.2_Missense_Mutation_p.I433F|CAMK2B_uc003tkt.2_Missense_Mutation_p.I446F|CAMK2B_uc003tkw.2_Missense_Mutation_p.I403F|CAMK2B_uc010kyc.2_Missense_Mutation_p.I496F|CAMK2B_uc003tkn.2_Missense_Mutation_p.I253F NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 620 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 GTGAGCCGGATGTAAGCGATG 0.642 NA 9 40 0 0 0 0 H2AFV 94239 broad.mit.edu 37 7 44880522 44880522 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:44880522C>A uc003tma.2 - 3 326 c.171G>T c.(169-171)GCG>GCT p.A57A H2AFV_uc003tlz.2_Silent_p.A57A|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Silent_p.A57A|H2AFV_uc003tmd.2_Silent_p.A31A NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 57 nucleosome assembly nucleosome|nucleus DNA binding 0 ACTCCAGAATCGCAGCACTGT 0.512 NA 9 47 7.48e-07 8.86e-07 1 0 PURB 5814 broad.mit.edu 37 7 44924479 44924479 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:44924479A>T uc003tme.2 - 1 482 c.469T>A c.(469-471)TTC>ATC p.F157I NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 157 Gly-rich.|By similarity. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 cccgcgccgAAGCCGCCACCG 0.577 NA 3 6 0 0 0 0 PKD1L1 168507 broad.mit.edu 37 7 47870817 47870817 + Nonsense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:47870817G>C uc003tny.1 - 42 6471 c.6471C>G c.(6469-6471)TAC>TAG p.Y2157* C7orf69_uc003toa.1_RNA NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2157 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CAGCTCACCTGTAGGCTAGAA 0.507 NA 58 84 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48356867 48356867 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:48356867C>T uc003toq.2 + 27 9998 c.9973C>T c.(9973-9975)CCA>TCA p.P3325S ABCA13_uc010kys.1_Missense_Mutation_p.P399S|ABCA13_uc003tos.1_Missense_Mutation_p.P151S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3325 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACCAAACACTCCAGAAATTAA 0.333 NA 8 50 0 0 0 0 HIP1 3092 broad.mit.edu 37 7 75174442 75174442 + Nonsense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:75174442C>T uc003uds.1 - 26 2645 c.2604G>A c.(2602-2604)TGG>TGA p.W868* HIP1_uc011kfz.1_Nonsense_Mutation_p.W694* NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 868 Important for actin binding (By similarity).|I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GTCCTTCTGTCCATCGAGAGT 0.393 NA T PDGFRB CMML 72 215 0 0 0 0 PTPN12 5782 broad.mit.edu 37 7 77256227 77256227 + Missense_Mutation SNP A A C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:77256227A>C uc003ugh.2 + 13 1322 c.1231A>C c.(1231-1233)AAA>CAA p.K411Q PTPN12_uc011kgp.1_Missense_Mutation_p.K292Q|PTPN12_uc011kgq.1_Missense_Mutation_p.K281Q|PTPN12_uc010lds.2_Missense_Mutation_p.K143Q NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 411 Interaction with TGFB1I1 (By similarity). soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 AAACTATAGTAAATCAACAGA 0.368 NA 14 82 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81620521 81620521 + Silent SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:81620521A>T uc003uhr.1 - 21 2032 c.1776T>A c.(1774-1776)CCT>CCA p.P592P NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 611 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCCATTGACAGGTGTCCATG 0.303 NA 16 105 0 0 0 0 CALCR 799 broad.mit.edu 37 7 93106955 93106955 + Silent SNP A A G rs139631014 byFrequency TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:93106955A>G uc003umv.1 - 5 546 c.285T>C c.(283-285)GAT>GAC p.D95D CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.D77D|CALCR_uc003umw.2_Silent_p.D77D NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 77 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ACAGCCATCCATCCCAGGTGC 0.428 NA 29 63 0 0 0 0 BET1 10282 broad.mit.edu 37 7 93628607 93628607 + Splice_Site SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:93628607C>A uc003unf.1 - 2 182 c.20_splice c.e2-1 p.G7_splice BET1_uc003une.3_Splice_Site NM_005868 NP_005859 O15155 BET1_HUMAN blocked early in transport 1 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding 0 all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218) Breast(660;0.000162)|Ovarian(593;0.000626) STAD - Stomach adenocarcinoma(171;0.000967) ACTCCTTCACCTGCAAGGATC 0.458 NA 33 66 5.83e-16 7.89e-16 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113519481 113519481 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:113519481C>T uc010ljy.1 - 4 1697 c.1666G>A c.(1666-1668)GGA>AGA p.G556R NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 556 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTACTAGCTCCAATCCCTGCC 0.418 NA 64 136 0 0 0 0 C7orf58 79974 broad.mit.edu 37 7 120764512 120764512 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:120764512C>A uc003vjq.3 + 8 1493 c.1046C>A c.(1045-1047)CCA>CAA p.P349Q C7orf58_uc003vjr.1_Missense_Mutation_p.P349Q|C7orf58_uc003vjs.3_Missense_Mutation_p.P349Q|C7orf58_uc003vjt.3_Missense_Mutation_p.P129Q|C7orf58_uc010lkk.1_Missense_Mutation_p.P129Q NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 349 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ACTCTGGGACCAAAGACCTTC 0.338 NA 23 79 6.33e-13 8.31e-13 1 0 DGKI 9162 broad.mit.edu 37 7 137206698 137206698 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:137206698G>C uc003vtt.2 - 21 2163 c.2162C>G c.(2161-2163)CCA>CGA p.P721R DGKI_uc003vtu.2_Missense_Mutation_p.P421R NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 721 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CAGACGATCTGGGACAGACTG 0.458 NA 15 46 0 0 0 0 TRPV5 56302 broad.mit.edu 37 7 142605970 142605970 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:142605970C>T uc003wby.1 - 15 2164 c.1900G>A c.(1900-1902)GAG>AAG p.E634K NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 634 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TTGTGGTTCTCAACCCTGATA 0.502 NA 33 82 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844745 147844745 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:147844745G>C uc003weu.1 + 17 3233 c.2717G>C c.(2716-2718)CGC>CCC p.R906P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 906 Laminin G-like 3.|Extracellular (Potential). R -> H. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGCAGATCCGCAAGGCCCCA 0.557 NA HNSCC(39;0.1) 35 79 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154519576 154519576 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:154519576C>T uc003wlk.2 + 8 991 c.862C>T c.(862-864)CTC>TTC p.L288F DPP6_uc003wli.2_Missense_Mutation_p.L224F|DPP6_uc003wlm.2_Missense_Mutation_p.L226F|DPP6_uc011kvq.1_Missense_Mutation_p.L181F NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 288 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTACAATGGCCTCAGTGACTG 0.428 NA 26 61 0 0 0 0 NCAPG2 54892 broad.mit.edu 37 7 158445168 158445168 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr7:158445168C>T uc003wnv.1 - 23 2896 c.2751G>A c.(2749-2751)AAG>AAA p.K917K NCAPG2_uc010lqu.1_Silent_p.K709K|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.K917K|NCAPG2_uc011kwe.1_Silent_p.K917K|NCAPG2_uc011kwc.1_Silent_p.K418K|NCAPG2_uc011kwd.1_Silent_p.K360K NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 917 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AAAAAAATCCCTTCACTAGAA 0.303 NA 18 53 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10465328 10465328 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:10465328C>T uc003wtc.2 - 4 6509 c.6280G>A c.(6280-6282)GCC>ACC p.A2094T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2094 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCTGGCTGGGCCTCCCCTTCT 0.627 NA 171 177 0 0 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733170 52733170 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:52733170G>C uc003xqx.3 - 6 1156 c.815C>G c.(814-816)GCT>GGT p.A272G PCMTD1_uc011ldm.1_Missense_Mutation_p.A142G|PCMTD1_uc003xqw.3_Missense_Mutation_p.A272G|PCMTD1_uc011ldn.1_Missense_Mutation_p.A84G|PCMTD1_uc010lya.2_Missense_Mutation_p.A196G NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 272 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TTTGGGTGGAGCCCTTTGAGG 0.403 NA 37 320 0 0 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54669197 54669197 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:54669197C>A uc003xrl.2 - 12 1347 c.1195G>T c.(1195-1197)GAA>TAA p.E399* ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.E359*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.E399*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.E381*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.E319*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.E335* NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 399 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TCTGACACTTCCAAAAGTTTT 0.378 NA 9 53 0.000274275 0.000299902 1 0 XKR4 114786 broad.mit.edu 37 8 56015496 56015496 + Missense_Mutation SNP T T C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:56015496T>C uc003xsf.2 + 1 480 c.448T>C c.(448-450)TTC>CTC p.F150L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 150 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) GCTCACGCTCTTCTTCGTGGT 0.662 NA 13 59 0 0 0 0 CLVS1 157807 broad.mit.edu 37 8 62212769 62212769 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:62212769G>C uc003xuh.2 + 2 707 c.383G>C c.(382-384)GGG>GCG p.G128A CLVS1_uc003xug.2_Missense_Mutation_p.G128A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.G128A NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 128 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GGGTTCCCCGGGGTGCTGGAA 0.478 NA 33 56 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93029586 93029586 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:93029586T>A uc003yfd.2 - 2 178 c.94A>T c.(94-96)ACT>TCT p.T32S RUNX1T1_uc003yfc.1_Missense_Mutation_p.T5S|RUNX1T1_uc003yfe.1_5'UTR|RUNX1T1_uc010mao.2_Missense_Mutation_p.T5S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T43S|RUNX1T1_uc003yfh.1_5'UTR|RUNX1T1_uc003yfb.1_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.1_5'UTR NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 32 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCTTCTCAGTACGATCTGGA 0.458 NA 13 92 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448575 110448575 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:110448575C>G uc003yne.2 + 30 3618 c.3514C>G c.(3514-3516)CTA>GTA p.L1172V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1172 Extracellular (Potential).|IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGTGGTACTCTACTGACTTT 0.308 NA HNSCC(38;0.096) 10 89 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535590 110535590 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:110535590C>T uc003yne.2 + 76 12563 c.12459C>T c.(12457-12459)TAC>TAT p.Y4153Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4153 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGGCCAACTACACAGACCTTA 0.393 NA HNSCC(38;0.096) 58 75 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113599296 113599296 + Missense_Mutation SNP T T A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:113599296T>A uc003ynu.2 - 23 4043 c.3884A>T c.(3883-3885)AAG>ATG p.K1295M CSMD3_uc003yns.2_Missense_Mutation_p.K567M|CSMD3_uc003ynt.2_Missense_Mutation_p.K1255M|CSMD3_uc011lhx.1_Missense_Mutation_p.K1191M NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1295 Extracellular (Potential).|CUB 7. 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 TTCACCTACCTTAAGAACATC 0.249 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 67 57 0 0 0 0 EIF3H 8667 broad.mit.edu 37 8 117658759 117658759 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:117658759G>C uc003yoa.2 - 7 938 c.912C>G c.(910-912)CTC>CTG p.L304L EIF3H_uc003yob.2_Silent_p.L318L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 304 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) GTGGTTTGAAGAGTTTGGACA 0.542 NA 54 357 0 0 0 0 SNTB1 6641 broad.mit.edu 37 8 121823957 121823957 + Nonsense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:121823957C>A uc010mdg.2 - 1 353 c.127G>T c.(127-129)GAG>TAG p.E43* SNTB1_uc003ype.2_Nonsense_Mutation_p.E43* NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 43 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) AGGGCGTCCTCGCTCAAGTTC 0.607 NA 3 60 0.00024832 0.000272669 1 0 TG 7038 broad.mit.edu 37 8 134031938 134031938 + Missense_Mutation SNP G G A rs114404536 by1000genomes TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:134031938G>A uc003ytw.2 + 39 6915 c.6874G>A c.(6874-6876)GTG>ATG p.V2292M TG_uc010mdw.2_Missense_Mutation_p.V1051M|TG_uc011ljb.1_Missense_Mutation_p.V661M|TG_uc011ljc.1_Missense_Mutation_p.V425M NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2292 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCCTCAGAATGTGGTGAGTTC 0.512 NA 14 96 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139158221 139158221 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:139158221A>G uc003yuy.2 - 15 3692 c.3521T>C c.(3520-3522)CTA>CCA p.L1174P FAM135B_uc003yux.2_Missense_Mutation_p.L1075P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L736P|FAM135B_uc003yvb.2_Silent_p.P701P NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1174 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCAGACATTAGGAAGTCCAG 0.433 NA HNSCC(54;0.14) 42 132 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139833581 139833581 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:139833581C>A uc003yvd.2 - 7 1490 c.1043G>T c.(1042-1044)AGG>ATG p.R348M NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 348 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAAGACCACCCTGACAGCATC 0.572 NA HNSCC(7;0.00092) 44 240 1.97e-11 2.54e-11 1 0 PUF60 22827 broad.mit.edu 37 8 144900183 144900183 + Silent SNP T T G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:144900183T>G uc003yzs.2 - 8 730 c.666A>C c.(664-666)GCA>GCC p.A222A SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.A162A|PUF60_uc003yzt.2_Silent_p.A205A|PUF60_uc003yzq.2_Silent_p.A179A|PUF60_uc003yzu.1_Silent_p.A211A NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 222 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGAAGGCCCGTGCCTCCTCAG 0.587 NA 5 43 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144994359 144994359 + Silent SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:144994359C>G uc003zaf.1 - 32 10211 c.10041G>C c.(10039-10041)CTG>CTC p.L3347L PLEC_uc003zab.1_Silent_p.L3210L|PLEC_uc003zac.1_Silent_p.L3214L|PLEC_uc003zad.2_Silent_p.L3210L|PLEC_uc003zae.1_Silent_p.L3178L|PLEC_uc003zag.1_Silent_p.L3188L|PLEC_uc003zah.2_Silent_p.L3196L|PLEC_uc003zaj.2_Silent_p.L3237L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3347 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTGAGAGCGGCAGCAGGCTCA 0.682 NA 5 45 0 0 0 0 PARP10 84875 broad.mit.edu 37 8 145058522 145058522 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:145058522C>A uc003zal.3 - 6 1644 c.1536G>T c.(1534-1536)GTG>GTT p.V512V PARP10_uc003zak.3_Silent_p.V218V|PARP10_uc011lku.1_Silent_p.V524V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.V512V NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 512 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGCACAACACATGGCAGC 0.637 NA 30 88 2.61e-14 3.47e-14 1 0 RECQL4 9401 broad.mit.edu 37 8 145738813 145738813 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:145738813C>A uc003zdj.2 - 14 2284 c.2252G>T c.(2251-2253)CGG>CTG p.R751L NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 751 Helicase C-terminal. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCGCCGTTCCCGGCTGCACAT 0.672 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 16 30 4.97e-08 6.02e-08 1 0 C9orf93 203238 broad.mit.edu 37 9 15695323 15695323 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:15695323C>A uc003zmd.2 + 11 1621 c.1306C>A c.(1306-1308)CAG>AAG p.Q436K C9orf93_uc010mih.1_Missense_Mutation_p.Q436K|C9orf93_uc003zme.2_Missense_Mutation_p.Q343K|C9orf93_uc011lmu.1_Missense_Mutation_p.Q436K NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 436 0 GBM - Glioblastoma multiforme(50;4.84e-07) TGTGTCGGGCCAGTGGACATC 0.413 NA 58 47 6.27e-30 9.2e-30 1 0 PGM5 5239 broad.mit.edu 37 9 71094402 71094402 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:71094402C>T uc004agr.2 + 8 1457 c.1228C>T c.(1228-1230)CGG>TGG p.R410W NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 410 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity p.R410Q(1) ovary(1)|pancreas(1) 2 TATTGCTGCCCGGAAGCAGAG 0.527 NA 43 250 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74332976 74332976 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:74332976C>A uc011lsa.1 - 13 2827 c.2287G>T c.(2287-2289)GCA>TCA p.A763S TMEM2_uc010mos.2_Missense_Mutation_p.A700S|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 763 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCGGGGTTTGCATCCTGATGA 0.348 NA 100 94 1.07e-64 1.64e-64 1 0 PRUNE2 158471 broad.mit.edu 37 9 79325172 79325172 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:79325172G>T uc010mpk.2 - 8 2142 c.2018C>A c.(2017-2019)TCC>TAC p.S673Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 673 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTGTTCACTGGAACTCCACGC 0.493 NA 72 57 2.85e-26 4.13e-26 1 0 FLJ46321 389763 broad.mit.edu 37 9 84607717 84607717 + Nonsense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:84607717G>T uc004amn.2 + 4 2379 c.2332G>T c.(2332-2334)GAG>TAG p.E778* NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 778 integral to membrane 0 ATACAGCCAGGAGACTGTCCC 0.468 NA 28 156 6.07e-21 8.54e-21 1 0 DAPK1 1612 broad.mit.edu 37 9 90317991 90317991 + Silent SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:90317991G>T uc004apc.2 + 25 3057 c.2919G>T c.(2917-2919)CTG>CTT p.L973L DAPK1_uc004apd.2_Silent_p.L973L|DAPK1_uc011ltg.1_Silent_p.L907L|DAPK1_uc011lth.1_Silent_p.L710L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 973 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TCTCCACGCTGCCTTCCTGGA 0.597 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 33 127 1.22e-17 1.69e-17 1 0 FAM75C1 441452 broad.mit.edu 37 9 90535265 90535265 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:90535265G>A uc010mqi.2 + 4 472 c.443G>A c.(442-444)CGG>CAG p.R148Q FAM75C1_uc004apq.3_Missense_Mutation_p.R131Q NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GGAGCCTCCCGGTCCTCTCAT 0.587 NA 179 143 0 0 0 0 SHC3 53358 broad.mit.edu 37 9 91656972 91656972 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:91656972C>A uc004aqg.2 - 10 1636 c.1329G>T c.(1327-1329)GAG>GAT p.E443D NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 443 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 TTGGGCTGCTCTCAGCACTGC 0.517 NA 26 140 1.08e-15 1.46e-15 1 0 ZNF484 83744 broad.mit.edu 37 9 95609023 95609023 + Missense_Mutation SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:95609023A>T uc004asu.1 - 5 2195 c.2046T>A c.(2044-2046)CAT>CAA p.H682Q ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H684Q|ZNF484_uc010mrb.1_Missense_Mutation_p.H646Q|ZNF484_uc004asv.1_Missense_Mutation_p.H646Q NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 682 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGATTGCTGATGTATATGGA 0.398 NA 155 101 0 0 0 0 GALNT12 79695 broad.mit.edu 37 9 101608273 101608273 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:101608273G>A uc004ayz.2 + 9 1473 c.1473G>A c.(1471-1473)ACG>ACA p.T491T NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 491 Ricin B-type lectin.|Lumenal (Potential). T -> M (in CRCS1; germline mutation; loss of activity). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) TCGAGTACACGTCCCAGAAAG 0.473 NA 18 54 0 0 0 0 DBC1 1620 broad.mit.edu 37 9 122004402 122004402 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:122004402C>T uc004bkc.2 - 4 958 c.502G>A c.(502-504)GCA>ACA p.A168T DBC1_uc004bkd.2_Missense_Mutation_p.A168T NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 168 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TAGGATGATGCGAGCTGGTGC 0.512 NA 28 189 0 0 0 0 CEL 1056 broad.mit.edu 37 9 135947074 135947074 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:135947074G>T uc010naa.1 + 11 2210 c.2194G>T c.(2194-2196)GGT>TGT p.G732C NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 729 16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GCCCCCCACGGGTGACTCTGA 0.682 NA 15 82 2.32e-09 2.9e-09 1 0 DDX53 168400 broad.mit.edu 37 X 23019337 23019337 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:23019337C>T uc004daj.2 + 1 1251 c.1163C>T c.(1162-1164)CCC>CTC p.P388L NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 388 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 GAATTTGAACCCCAGATAAGG 0.403 NA 44 84 0 0 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157130 26157130 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:26157130C>A uc004dbq.1 + 2 215 c.28C>A c.(28-30)CGT>AGT p.R10S NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 10 protein binding central_nervous_system(1) 1 GAGTAAGCTCCGTGCCCGTGA 0.542 NA 8 8 5.49e-09 6.8e-09 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938141 29938141 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:29938141G>T uc004dby.2 + 8 1495 c.987G>T c.(985-987)TTG>TTT p.L329F NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 329 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 AAGGTGACTTGGGAAATTACT 0.418 NA 48 38 1.62e-15 2.18e-15 1 0 NR0B1 190 broad.mit.edu 37 X 30326412 30326412 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:30326412G>T uc004dcf.3 - 1 1084 c.1069C>A c.(1069-1071)CAG>AAG p.Q357K NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 357 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) GCTTGGACCTGGGAGGCGGAG 0.637 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 26 2.71e-06 3.14e-06 1 0 ELK1 2002 broad.mit.edu 37 X 47497248 47497248 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:47497248C>A uc004dik.3 - 5 1310 c.988G>T c.(988-990)GGG>TGG p.G330W ELK1_uc010nhv.2_Missense_Mutation_p.G330W|ELK1_uc010nhw.2_Missense_Mutation_p.G220W|ELK1_uc004dil.3_Intron NM_001114123 NP_001107595 P19419 ELK1_HUMAN ELK1 protein 330 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GGTCCCGGCCCACCTAGCAGG 0.701 NA 3 2 0.004672 0.00490617 1 0 GSPT2 23708 broad.mit.edu 37 X 51488354 51488354 + Missense_Mutation SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:51488354C>A uc004dpl.2 + 1 1858 c.1632C>A c.(1630-1632)CAC>CAA p.H544Q NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 544 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) CGGTGCTGCACATTCATACTT 0.423 NA 47 47 2.02e-29 2.96e-29 1 0 KLF8 11279 broad.mit.edu 37 X 56296753 56296753 + Silent SNP A A T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:56296753A>T uc004dur.2 + 5 1843 c.897A>T c.(895-897)ACA>ACT p.T299T KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAATCCATACAGGTCTGCCCA 0.318 NA 9 6 0 0 0 0 CYLC1 1538 broad.mit.edu 37 X 83128538 83128538 + Silent SNP G G A rs148140928 TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:83128538G>A uc004eei.1 + 4 843 c.822G>A c.(820-822)AAG>AAA p.K274K CYLC1_uc004eeh.1_Silent_p.K273K NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 274 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATAATTCAAAGAATTATTCTT 0.318 NA 6 17 0 0 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83351277 83351277 + Silent SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:83351277C>T uc004eej.1 - 20 1973 c.1896G>A c.(1894-1896)GAG>GAA p.E632E RPS6KA6_uc011mqt.1_Silent_p.E632E|RPS6KA6_uc011mqu.1_Silent_p.E529E NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 632 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 GCAGCAGTATCTCTTCAGGAG 0.358 NA 21 20 0 0 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011320 105011320 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:105011320G>T uc004elz.1 + 11 2483 c.1727G>T c.(1726-1728)GGA>GTA p.G576V NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 576 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GCAGAACAAGGACTTTTTGGA 0.438 NA 29 38 7.38e-10 9.29e-10 1 0 CXorf57 55086 broad.mit.edu 37 X 105855463 105855463 + Silent SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:105855463G>A uc004emi.3 + 1 304 c.153G>A c.(151-153)GAG>GAA p.E51E CXorf57_uc004emj.3_Silent_p.E51E|CXorf57_uc004emh.2_Silent_p.E51E NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 51 ovary(1)|lung(1)|breast(1) 3 AGGTTCTTGAGCAGATTATGG 0.607 NA 48 43 0 0 0 0 STAG2 10735 broad.mit.edu 37 X 123217393 123217393 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:123217393G>A uc004etz.3 + 28 3386 c.3047G>A c.(3046-3048)AGA>AAA p.R1016K STAG2_uc004eua.2_Missense_Mutation_p.R1016K|STAG2_uc004eub.2_Missense_Mutation_p.R1016K|STAG2_uc004euc.2_Missense_Mutation_p.R1016K|STAG2_uc004eud.2_Missense_Mutation_p.R1016K|STAG2_uc004eue.2_Missense_Mutation_p.R1016K NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1016 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CAAGACAAAAGAACAGTGTAT 0.358 NA 25 30 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717166 142717166 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:142717166G>T uc004fbx.2 - 2 2135 c.1759C>A c.(1759-1761)CCG>ACG p.P587T SLITRK4_uc004fby.2_Missense_Mutation_p.P587T NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 587 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGTGCAGACGGCTTATTTAAA 0.453 NA 37 47 2.1e-21 2.96e-21 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905021 144905021 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:144905021C>G uc004fcd.2 + 5 2068 c.1078C>G c.(1078-1080)CAA>GAA p.Q360E SLITRK2_uc010nsp.2_Missense_Mutation_p.Q360E|SLITRK2_uc010nso.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwq.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mwr.1_Missense_Mutation_p.Q360E|SLITRK2_uc011mws.1_Missense_Mutation_p.Q360E|SLITRK2_uc004fcg.2_Missense_Mutation_p.Q360E|SLITRK2_uc011mwt.1_Missense_Mutation_p.Q360E NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 360 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TGTAAACTGCCAAGAAAGGAA 0.473 NA 31 22 0 0 0 0 PNMA3 29944 broad.mit.edu 37 X 152225666 152225666 + Missense_Mutation SNP A A G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:152225666A>G uc004fhc.2 + 2 590 c.254A>G c.(253-255)AAG>AGG p.K85R PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 85 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ataccaggaaagggggggccc 0 NA 13 23 0 0 0 0 SPRY3 10251 broad.mit.edu 37 X 155004162 155004162 + Missense_Mutation SNP C C T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:155004162C>T uc004fnq.1 + 2 1083 c.629C>T c.(628-630)CCC>CTC p.P210L SPRY3_uc010nvl.1_Missense_Mutation_p.P111L NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 210 SPR.|Cys-rich. multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCTGATGAGCCCTGCTCTTGT 0.562 NA 90 198 0 0 0 0 IL9R 3581 broad.mit.edu 37 X 155233355 155233355 + Missense_Mutation SNP G G A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:155233355G>A uc004fnv.1 + 4 447 c.268G>A c.(268-270)GGC>AGC p.G90S IL9R_uc010nvn.2_Missense_Mutation_p.G69S|IL9R_uc004fnu.1_Silent_p.L134L NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 90 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGGCTCCTGGCGGCACACA 0.577 NA 7 18 0 0 0 0 KIAA0494 9813 broad.mit.edu 37 1 47154099 47154100 + Frame_Shift_Ins INS - - CTGGGTAAGATTA TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:47154099_47154100insCTGGGTAAGATTA uc001cqk.3 - 7 1889_1890 c.912_913insTAATCTTACCCAG c.(910-915)CAGAGAfs p.Q304fs KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Frame_Shift_Ins_p.Q304fs NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 304_305 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) AGGTTGACTCTCTGGGTAAGAT 0.441 NA 19 331 --- --- --- --- NA NA NA NA DBT 1629 broad.mit.edu 37 1 100672035 100672035 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:100672035delG uc001dta.2 - 9 1208 c.1175delC c.(1174-1176)ACAfs p.T392fs DBT_uc010oug.1_Frame_Shift_Del_p.T211fs NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 392 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TGTTCCTCCTGTAAGATCAGT 0.378 NA 77 398 --- --- --- --- NA NA NA NA COL11A1 1301 broad.mit.edu 37 1 103480115 103480115 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:103480115delG uc001dul.2 - 13 1842 c.1524delC c.(1522-1524)ACCfs p.T508fs COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Frame_Shift_Del_p.T520fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.T469fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.T392fs NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 508 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAGCAGAGATGGTTGGTCCTT 0.418 NA 60 105 --- --- --- --- NA NA NA NA C1orf114 57821 broad.mit.edu 37 1 169394069 169394069 + Frame_Shift_Del DEL T T - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:169394069delT uc001gga.1 - 2 265 c.97delA c.(97-99)AGTfs p.S33fs C1orf114_uc001gfz.1_Frame_Shift_Del_p.S33fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggb.2_Frame_Shift_Del_p.S33fs|C1orf114_uc001ggc.1_Frame_Shift_Del_p.S33fs NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 33 0 all_hematologic(923;0.208) CTGGCATCACTTTTTTCATTT 0.224 NA 53 125 --- --- --- --- NA NA NA NA RGS1 5996 broad.mit.edu 37 1 192547358 192547358 + Frame_Shift_Del DEL A A - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:192547358delA uc001gsi.1 + 4 353 c.287delA c.(286-288)CAAfs p.Q96fs RGS1_uc010pou.1_Frame_Shift_Del_p.Q96fs NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 96 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) TTAGCTGGTCAAAATGTCTTT 0.338 NA 123 254 --- --- --- --- NA NA NA NA CHRM3 1131 broad.mit.edu 37 1 240070839 240070839 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr1:240070839delC uc001hyp.2 + 5 867 c.88delC c.(88-90)CCCfs p.P30fs NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 30 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGCAGGGCTGCCCCCGGGAAC 0.542 NA 66 190 --- --- --- --- NA NA NA NA PPFIA2 8499 broad.mit.edu 37 12 81839439 81839439 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr12:81839439delC uc001szo.1 - 6 627 c.466delG c.(466-468)GTGfs p.V156fs PPFIA2_uc010sue.1_Frame_Shift_Del_p.V56fs|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 82 ovary(3)|lung(2)|pancreas(1) 6 CGTTTTACCACCGTCATTCTT 0.428 NA 27 45 --- --- --- --- NA NA NA NA RASGRF1 5923 broad.mit.edu 37 15 79292140 79292140 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr15:79292140delG uc002beq.2 - 18 3114 c.2739delC c.(2737-2739)GCCfs p.A913fs RASGRF1_uc002bep.2_Frame_Shift_Del_p.A897fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.A822fs|RASGRF1_uc002ber.3_Frame_Shift_Del_p.A897fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.A308fs|RASGRF1_uc002beo.2_Frame_Shift_Del_p.A129fs NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 915 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGCCCTCGTTGGCCCCGGCGG 0.582 NA 30 187 --- --- --- --- NA NA NA NA MPP2 4355 broad.mit.edu 37 17 41959835 41959836 + Frame_Shift_Del DEL GC GC - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr17:41959835_41959836delGC uc010wip.1 - 6 689_690 c.632_633delGC c.(631-633)CGCfs p.R211fs MPP2_uc002ien.1_Frame_Shift_Del_p.R183fs|MPP2_uc010wim.1_Frame_Shift_Del_p.R155fs|MPP2_uc002ieo.1_Frame_Shift_Del_p.R166fs|MPP2_uc010win.1_Frame_Shift_Del_p.R27fs|MPP2_uc010wio.1_Frame_Shift_Del_p.R155fs|MPP2_uc010czm.1_Frame_Shift_Del_p.R149fs NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 190 PDZ. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CATGCAGAATGCGCGCGATCAC 0.609 NA 44 77 --- --- --- --- NA NA NA NA ZNF224 7767 broad.mit.edu 37 19 44610618 44610618 + Frame_Shift_Del DEL A A - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr19:44610618delA uc002oyh.1 + 6 607 c.305delA c.(304-306)CAAfs p.Q102fs uc002oyi.2_RNA NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 102 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) TCCTTCCAGCAAATCTGGGAA 0.418 NA 44 75 --- --- --- --- NA NA NA NA PEX13 5194 broad.mit.edu 37 2 61275876 61275876 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:61275876delG uc002sau.3 + 4 1266 c.1183delG c.(1183-1185)GGGfs p.G395fs NM_002618 NP_002609 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 395 Cytoplasmic (Potential). cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) TGATTCCATTGGGAAAGATGG 0.358 NA 33 121 --- --- --- --- NA NA NA NA GAD1 2571 broad.mit.edu 37 2 171702239 171702240 + Frame_Shift_Ins INS - - G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr2:171702239_171702240insG uc002ugi.2 + 9 1313_1314 c.891_892insG c.(889-894)GCTGGGfs p.A297fs NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 297_298 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TAAAGAAAGCTGGGGCTGCACT 0.426 NA 57 131 --- --- --- --- NA NA NA NA DSCAM 1826 broad.mit.edu 37 21 41516604 41516604 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr21:41516604delG uc002yyq.1 - 17 3525 c.3073delC c.(3073-3075)CGAfs p.R1025fs DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1025 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGTACTCTCGGTAACCTATT 0.453 NA 39 82 --- --- --- --- NA NA NA NA RFC4 5984 broad.mit.edu 37 3 186512478 186512478 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr3:186512478delC uc003fqz.2 - 5 602 c.379delG c.(379-381)GCTfs p.A127fs RFC4_uc011bsc.1_Frame_Shift_Del_p.A127fs|RFC4_uc011bsd.1_Frame_Shift_Del_p.A127fs NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 127 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) GTTAATTGAGCAAAATTTTTC 0.348 NA 19 155 --- --- --- --- NA NA NA NA GABRG1 2565 broad.mit.edu 37 4 46060593 46060593 + Frame_Shift_Del DEL G G - rs139684526 byFrequency TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:46060593delG uc003gxb.2 - 6 824 c.672delC c.(670-672)TCCfs p.S224fs NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 224 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCACTTCTACGGAGGGCTTTT 0.353 NA 30 62 --- --- --- --- NA NA NA NA OTUD4 54726 broad.mit.edu 37 4 146071685 146071685 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr4:146071685delC uc003ika.3 - 13 1182 c.1044delG c.(1042-1044)CGGfs p.R348fs OTUD4_uc003ijz.3_Frame_Shift_Del_p.R347fs NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 412 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) GTGAAGGTGTCCGGCTAAGAT 0.398 NA 20 241 --- --- --- --- NA NA NA NA PARK2 5071 broad.mit.edu 37 6 162683695 162683695 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr6:162683695delC uc003qtx.3 - 3 408 c.274delG c.(274-276)GCGfs p.A92fs PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Frame_Shift_Del_p.A92fs|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Frame_Shift_Del_p.A92fs NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 92 A -> V (in PARK2). aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CAGCCTCCCGCCGCGTTTCTG 0.582 NA 29 139 --- --- --- --- NA NA NA NA WRN 7486 broad.mit.edu 37 8 30958449 30958449 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:30958449delC uc003xio.3 + 18 2854 c.2066delC c.(2065-2067)TCCfs p.S689fs WRN_uc010lvk.2_Frame_Shift_Del_p.S156fs NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 689 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAGTTGGGCTCCCTAAAGACA 0.433 NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 23 23 --- --- --- --- NA NA NA NA PREX2 80243 broad.mit.edu 37 8 69129909 69129909 + Frame_Shift_Del DEL C C - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr8:69129909delC uc003xxv.1 + 38 4690 c.4663delC c.(4663-4665)CCAfs p.P1555fs NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1555 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CCACGGACTGCCACCTCGTTA 0.552 NA 19 82 --- --- --- --- NA NA NA NA FAM75C1 441452 broad.mit.edu 37 9 90536403 90536403 + Frame_Shift_Del DEL G G - TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chr9:90536403delG uc010mqi.2 + 4 1610 c.1581delG c.(1579-1581)CTGfs p.L527fs FAM75C1_uc004apq.3_Frame_Shift_Del_p.L510fs NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GGCAAATTCTGGGTGAGACCC 0.577 NA 62 62 --- --- --- --- NA NA NA NA UPF3B 65109 broad.mit.edu 37 X 118979179 118979180 + Frame_Shift_Ins INS - - T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b24fc60a-fe83-4743-a6d3-d90b807412e1 53489efb-ec71-4932-9980-aaacd8347b17 g.chrX:118979179_118979180insT uc004erz.1 - 4 527_528 c.450_451insA c.(448-453)AAAGTCfs p.K150fs UPF3B_uc004esa.1_Frame_Shift_Ins_p.K150fs NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 150_151 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 ATAGTCCCGACTTTGGTATCTC 0.342 NA 37 66 --- --- --- --- NA NA NA NA