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 DNAJC11 55735 broad.mit.edu 37 1 6738499 6738499 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:6738499G>A uc001aof.2 - 3 337 c.231C>T c.(229-231)ATC>ATT p.I77I DNAJC11_uc010nzt.1_Silent_p.I39I|DNAJC11_uc001aog.2_Silent_p.I77I|DNAJC11_uc010nzu.1_Intron NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 77 J. protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) ATATATCATAGATGGCCCTGG 0.388 NA 11 48 0 0 0 0 SLC2A7 155184 broad.mit.edu 37 1 9067373 9067373 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:9067373C>T uc009vmo.1 - 10 1188 c.1188G>A c.(1186-1188)GGG>GGA p.G396G NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 396 Helical; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) ACTCACTGGGCCCAATGGAAT 0.433 NA 4 53 0 0 0 0 ZBTB17 7709 broad.mit.edu 37 1 16273491 16273491 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:16273491G>C uc001axl.3 - 4 572 c.333C>G c.(331-333)CTC>CTG p.L111L ZBTB17_uc010obq.1_Nonsense_Mutation_p.S21*|ZBTB17_uc010obr.1_Silent_p.L111L|ZBTB17_uc010obs.1_Silent_p.L35L|ZBTB17_uc010obt.1_Intron|ZBTB17_uc010obu.1_Silent_p.L35L|ZBTB17_uc009vom.1_Intron|ZBTB17_uc010obv.1_Silent_p.L111L NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 111 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CAAGTGACTTGAGGGCATGGC 0.602 NA 8 45 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22170783 22170783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:22170783C>T uc001bfj.2 - 65 8514 c.8474G>A c.(8473-8475)GGA>GAA p.G2825E HSPG2_uc009vqd.2_Missense_Mutation_p.G2826E NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2825 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGTGGGGCTCCACCTGGGGC 0.682 NA 10 67 0 0 0 0 XKR8 55113 broad.mit.edu 37 1 28293631 28293631 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:28293631C>A uc001bph.1 + 3 1185 c.1108C>A c.(1108-1110)CAG>AAG p.Q370K NM_018053 NP_060523 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related 370 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) TCAGCTGCCTCAGAACAGGCG 0.577 NA 10 71 9.7e-10 1.07e-09 1 0 SERINC2 347735 broad.mit.edu 37 1 31897634 31897634 + Silent SNP C C T rs35593581 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:31897634C>T uc010ogh.1 + 3 519 c.318C>T c.(316-318)TTC>TTT p.F106F SERINC2_uc010ogg.1_Silent_p.F103F|SERINC2_uc009vtw.1_Silent_p.F102F|SERINC2_uc001bst.2_Silent_p.F102F|SERINC2_uc001bsu.2_Silent_p.F47F|SERINC2_uc001bsv.2_Silent_p.F47F NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 102 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) GCATGTGCTTCGCCACGGCGG 0.657 NA 3 22 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32165443 32165443 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:32165443C>T uc001btk.1 - 4 602 c.237G>A c.(235-237)CTG>CTA p.L79L COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Silent_p.L79L NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 79 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGCCGCCCCCAGGCGCAGGA 0.592 NA 14 83 0 0 0 0 INPP5B 3633 broad.mit.edu 37 1 38345771 38345771 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:38345771G>A uc001ccg.1 - 15 1621 c.1527C>T c.(1525-1527)GAC>GAT p.D509D INPP5B_uc009vvk.1_Silent_p.D450D|INPP5B_uc001ccf.1_Silent_p.D345D|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 589 GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TATCCCAGTCGTCAGAGCCCG 0.478 NA 19 78 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44422118 44422118 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:44422118C>T uc001ckx.2 + 3 1743 c.948C>T c.(946-948)GGC>GGT p.G316G NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 316 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGGCCCTGGGCGAGAACCACT 0.597 NA 16 52 0 0 0 0 UROD 7389 broad.mit.edu 37 1 45480410 45480410 + Silent SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:45480410C>A uc001cna.1 + 8 885 c.777C>A c.(775-777)ATC>ATA p.I259I UROD_uc001cnb.1_Silent_p.I224I|UROD_uc010olj.1_3'UTR|UROD_uc001cnc.1_Silent_p.I164I NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 259 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) TTTTCTAGATCATCTTTGCTA 0.527 NA Porphyria_Cutanea_Tarda_Type_II OREG0013449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 33 0.00909568 0.00940813 1 0 MUTYH 4595 broad.mit.edu 37 1 45797203 45797203 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:45797203G>A uc001cnm.2 - 13 1419 c.1203C>T c.(1201-1203)TTC>TTT p.F401F MUTYH_uc009vxn.2_Silent_p.F226F|MUTYH_uc001cnf.2_Silent_p.F376F|MUTYH_uc009vxo.2_Silent_p.F376F|MUTYH_uc001cng.2_Silent_p.F387F|MUTYH_uc001cnj.2_Silent_p.F284F|MUTYH_uc001cni.2_Silent_p.F376F|MUTYH_uc001cnh.2_Silent_p.F377F|MUTYH_uc001cno.2_Silent_p.F284F|MUTYH_uc001cnk.2_Silent_p.F261F|MUTYH_uc010oll.1_Silent_p.F85F|MUTYH_uc001cnl.2_Silent_p.F390F|MUTYH_uc009vxp.2_Silent_p.F404F|MUTYH_uc001cnn.2_Silent_p.F391F NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 401 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) TCACGGACGGGAACTCCCACA 0.657 NA Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 15 56 0 0 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042150 59042150 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:59042150C>T uc001cyz.3 - 1 1017 c.679G>A c.(679-681)GAG>AAG p.E227K NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 227 Extracellular (Potential). cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) ATGTCCCTCTCGAAGTAGTAG 0.632 NA 4 20 0 0 0 0 KIAA1324 57535 broad.mit.edu 37 1 109714534 109714534 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:109714534G>A uc001dwq.2 + 5 650 c.514G>A c.(514-516)GAA>AAA p.E172K KIAA1324_uc009wex.1_Missense_Mutation_p.E172K|KIAA1324_uc009wey.2_Missense_Mutation_p.E172K|KIAA1324_uc010ovg.1_Missense_Mutation_p.E70K NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 172 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CAACACGGACGAATGCACAGC 0.532 NA 17 71 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109815344 109815344 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:109815344C>A uc001dxa.3 + 30 8198 c.8137C>A c.(8137-8139)CAG>AAG p.Q2713K NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2713 Cytoplasmic (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCAAGACCAGCAGCATGGTGA 0.622 NA 12 50 0.000978159 0.00103547 1 0 LRIG2 9860 broad.mit.edu 37 1 113657144 113657144 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:113657144C>T uc001edf.1 + 15 2374 c.2176C>T c.(2176-2178)CGT>TGT p.R726C LRIG2_uc009wgn.1_Missense_Mutation_p.R623C NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 726 Ig-like C2-type 3.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TCCTGCCCCTCGTCTCAACTG 0.498 NA 11 70 0 0 0 0 VPS45 11311 broad.mit.edu 37 1 150040002 150040002 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:150040002G>C uc001etp.2 + 1 661 c.88G>C c.(88-90)GAG>CAG p.E30Q VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_5'UTR|VPS45_uc010pbs.1_Intron|VPS45_uc009wlm.1_Missense_Mutation_p.E30Q|VPS45_uc010pbr.1_Intron NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 30 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 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) CATGGATAAAGAGACGGTGAG 0.433 NA 4 49 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152284258 152284258 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:152284258G>C uc001ezu.1 - 3 3140 c.3104C>G c.(3103-3105)TCC>TGC p.S1035C uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1035 Filaggrin 6.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGTGGCGGGATCCGTGTCT 0.567 NA Ichthyosis 41 651 0 0 0 0 LCE2C 353140 broad.mit.edu 37 1 152648718 152648718 + Missense_Mutation SNP A A G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:152648718A>G uc001fah.2 + 2 282 c.227A>G c.(226-228)CAC>CGC p.H76R NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 76 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGCCACCACAGGCCCCGT 0.682 NA 4 143 0 0 0 0 PEA15 8682 broad.mit.edu 37 1 160181434 160181434 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:160181434G>A uc001fvk.2 + 2 290 c.100G>A c.(100-102)GAA>AAA p.E34K uc001fvj.1_5'Flank|PEA15_uc001fvl.2_Missense_Mutation_p.E55K|PEA15_uc001fvm.2_Missense_Mutation_p.E34K NM_003768 NP_003759 Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 34 DED. anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import cytoplasm|microtubule associated complex protein binding 0 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCCCCAGCGAAAAGAGTGA 0.557 NA 12 75 0 0 0 0 KLHL20 27252 broad.mit.edu 37 1 173744918 173744918 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:173744918G>C uc001gjc.2 + 10 1754 c.1575G>C c.(1573-1575)GAG>GAC p.E525D KLHL20_uc010pmr.1_Missense_Mutation_p.E336D|KLHL20_uc009wwf.2_Missense_Mutation_p.E507D NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 525 Kelch 5. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 GCAGTGCTGAGAGATACAACC 0.453 NA 5 75 0 0 0 0 TNN 63923 broad.mit.edu 37 1 175097823 175097823 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:175097823G>A uc001gkl.1 + 15 3384 c.3271G>A c.(3271-3273)GAT>AAT p.D1091N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1091 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGCATGGCGATGCCAGCCG 0.602 NA 10 82 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740227 176740227 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:176740227C>T uc001gkz.2 + 17 5790 c.4626C>T c.(4624-4626)CTC>CTT p.L1542L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1542 Sushi 3. 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 CTCACTGCCTCCAGGACAACC 0.488 NA 7 61 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183103932 183103932 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:183103932G>C uc001gpy.3 + 23 4244 c.3987G>C c.(3985-3987)AAG>AAC p.K1329N NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1329 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAAGGCAAGACTGAACAGC 0.428 NA 32 174 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183106903 183106903 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:183106903G>C uc001gpy.3 + 26 4671 c.4414G>C c.(4414-4416)GAA>CAA p.E1472Q NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1472 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGGAAGCAGAAAAAGAGCT 0.428 NA 6 32 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186276564 186276565 + Missense_Mutation DNP CA CA TG TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:186276564_186276565CA>TG uc001gru.3 + 7 1764_1765 c.1713_1714CA>TG c.(1711-1716)ACCACC>ACTGCC p.T572A PRG4_uc001grt.3_Missense_Mutation_p.T531A|PRG4_uc009wyl.2_Missense_Mutation_p.T479A|PRG4_uc009wym.2_Missense_Mutation_p.T438A|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|29. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTGCACCCACCACCCCCAAGAA 0.644 NA 4 106 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186277112 186277112 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:186277112C>G uc001gru.3 + 7 2312 c.2261C>G c.(2260-2262)CCT>CGT p.P754R PRG4_uc001grt.3_Missense_Mutation_p.P713R|PRG4_uc009wyl.2_Missense_Mutation_p.P661R|PRG4_uc009wym.2_Missense_Mutation_p.P620R|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 754 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|47; approximate. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCAACTACCCCTAAGGGGACT 0.602 NA 40 172 0 0 0 0 C1orf106 55765 broad.mit.edu 37 1 200880920 200880920 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:200880920G>A uc001gvo.2 + 9 1584 c.1554G>A c.(1552-1554)CCG>CCA p.P518P C1orf106_uc010ppm.1_Silent_p.P433P NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 518 skin(2)|ovary(1) 3 GCTATTTCCCGGCGGGGCGGT 0.726 NA 13 48 0 0 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227268658 227268658 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:227268658C>A uc001hqr.2 - 17 3359 c.2416G>T c.(2416-2418)GAT>TAT p.D806Y CDC42BPA_uc001hqq.2_Missense_Mutation_p.D70Y|CDC42BPA_uc001hqs.2_Missense_Mutation_p.D725Y|CDC42BPA_uc009xes.2_Missense_Mutation_p.D806Y|CDC42BPA_uc010pvs.1_Missense_Mutation_p.D806Y|CDC42BPA_uc001hqp.2_5'UTR|CDC42BPA_uc001hqu.1_5'UTR NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 806 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TCTGCTAGATCTTTAACCTCT 0.358 NA 18 64 2e-07 2.19e-07 1 0 CUBN 8029 broad.mit.edu 37 10 17164832 17164832 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:17164832C>G uc001ioo.2 - 6 607 c.555G>C c.(553-555)CAG>CAC p.Q185H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 185 EGF-like 2; calcium-binding (Potential). 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) TGCCTCCATTCTGGCAGCTCA 0.383 NA 12 45 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317105 30317105 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:30317105C>G uc001iux.2 - 2 2031 c.1972G>C c.(1972-1974)GAC>CAC p.D658H KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.D520H|KIAA1462_uc009xle.1_Missense_Mutation_p.D658H NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 658 ovary(4) 4 GTTTGTCTGTCTTCTTCTGGT 0.517 NA 8 51 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87487785 87487785 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:87487785C>G uc001kdl.1 - 10 1461 c.1360G>C c.(1360-1362)GAG>CAG p.E454Q GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E25Q NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 454 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGGATGTTCTCAGCCACCATC 0.448 NA Multiple Myeloma(13;0.14) 17 156 0 0 0 0 FAM35A 54537 broad.mit.edu 37 10 88946848 88946848 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:88946848G>A uc001kei.3 + 8 2313 c.2199G>A c.(2197-2199)GCG>GCA p.A733A FAM35A_uc001kej.3_Silent_p.A179A NM_019054 NP_061927 Q86V20 FA35A_HUMAN hypothetical protein LOC54537 733 ovary(2)|skin(2) 4 GTAGGCCAGCGTTAATGACTG 0.353 NA 4 44 0 0 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362900 105362900 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:105362900G>C uc001kxj.1 - 14 2131 c.1991C>G c.(1990-1992)TCA>TGA p.S664* SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Nonsense_Mutation_p.S499*|SH3PXD2A_uc010qqt.1_Nonsense_Mutation_p.S541*|SH3PXD2A_uc009xxn.1_Nonsense_Mutation_p.S499*|SH3PXD2A_uc010qqu.1_Nonsense_Mutation_p.S607* NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 692 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGTGATGGATGAGGAAAAGGA 0.458 NA 26 144 0 0 0 0 COL17A1 1308 broad.mit.edu 37 10 105814753 105814753 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:105814753C>G uc001kxr.2 - 20 1899 c.1730G>C c.(1729-1731)AGT>ACT p.S577T COL17A1_uc010qqv.1_Missense_Mutation_p.S561T NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 577 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGGGCCTGGACTTCCCATGTC 0.383 NA 3 26 0 0 0 0 BTBD16 118663 broad.mit.edu 37 10 124097537 124097537 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:124097537G>C uc001lgc.1 + 16 1709 c.1458G>C c.(1456-1458)TTG>TTC p.L486F BTBD16_uc001lgd.1_Missense_Mutation_p.L485F NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 486 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTTAGACCTTGAAAATCCAAA 0.403 NA 6 38 0 0 0 0 DUSP8 1850 broad.mit.edu 37 11 1579116 1579116 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:1579116G>A uc001lts.2 - 6 857 c.729C>T c.(727-729)ATC>ATT p.I243I NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 243 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GACAGTGGACGATGACTTGGC 0.617 NA 13 60 0 0 0 0 TRIM68 55128 broad.mit.edu 37 11 4622349 4622349 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:4622349G>C uc001lzf.1 - 6 1053 c.815C>G c.(814-816)TCT>TGT p.S272C TRIM68_uc001lzg.1_Missense_Mutation_p.S49C|TRIM68_uc010qyj.1_Intron NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 272 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAGCTCCAAGATTTGCTCCT 0.547 NA 12 95 0 0 0 0 OR52E2 119678 broad.mit.edu 37 11 5080352 5080352 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:5080352G>A uc010qyw.1 - 1 506 c.506C>T c.(505-507)CCC>CTC p.P169L NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCACAGAAGGGCAACCGCAA 0.418 NA 3 24 0 0 0 0 OR56A1 120796 broad.mit.edu 37 11 6048851 6048851 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:6048851C>G uc010qzw.1 - 1 84 c.84G>C c.(82-84)CAG>CAC p.Q28H NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 28 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCCAACTCTGGAAGTTGG 0.577 NA 7 111 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22301307 22301307 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:22301307T>C uc001mqi.2 + 22 3055 c.2738T>C c.(2737-2739)CTC>CCC p.L913P ANO5_uc001mqj.2_Missense_Mutation_p.L912P NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 913 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AAATCAACACTCTAATCAGTA 0.408 NA 5 22 0 0 0 0 TTC17 55761 broad.mit.edu 37 11 43436245 43436245 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:43436245G>C uc001mxi.2 + 16 2184 c.2170G>C c.(2170-2172)GAG>CAG p.E724Q TTC17_uc001mxh.2_Missense_Mutation_p.E724Q|TTC17_uc010rfj.1_Missense_Mutation_p.E667Q|TTC17_uc001mxj.2_Missense_Mutation_p.E494Q NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 724 binding ovary(5) 5 CAAATGTCCAGAGTGTGAAAA 0.438 NA 9 91 0 0 0 0 PYGM 5837 broad.mit.edu 37 11 64521767 64521767 + Silent SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:64521767C>G uc001oax.3 - 9 1867 c.1050G>C c.(1048-1050)CTG>CTC p.L350L PYGM_uc001oay.3_Silent_p.L262L NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 350 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GGATCCTCATCAGCTCGGGGA 0.632 NA 5 66 0 0 0 0 SF3B2 10992 broad.mit.edu 37 11 65829169 65829169 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:65829169G>A uc001ogy.1 + 15 1832 c.1792G>A c.(1792-1794)GAG>AAG p.E598K NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 598 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 GAAGGAGTTCGAGACACGACT 0.498 NA 8 35 0 0 0 0 DPP3 10072 broad.mit.edu 37 11 66272236 66272236 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:66272236C>T uc001oig.1 + 17 2094 c.2032C>T c.(2032-2034)CGC>TGC p.R678C DPP3_uc001oif.1_Missense_Mutation_p.R678C|DPP3_uc010rpe.1_Missense_Mutation_p.R667C|DPP3_uc001oih.1_Silent_p.L45L NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 678 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 GCCCAACACTCGCCTTGAAGG 0.567 NA 19 101 0 0 0 0 CTSF 8722 broad.mit.edu 37 11 66335085 66335085 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:66335085G>A uc001oip.2 - 3 451 c.361C>T c.(361-363)CGG>TGG p.R121W NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 121 proteolysis lysosome cysteine-type endopeptidase activity 0 CAGTCCTTCCGCAGCAGCACG 0.592 NA 12 135 0 0 0 0 APOA5 116519 broad.mit.edu 37 11 116662530 116662530 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:116662530G>A uc001ppr.2 - 1 55 c.47C>T c.(46-48)TCA>TTA p.S16L APOA5_uc009yze.2_Missense_Mutation_p.S16L|APOA5_uc009yzf.2_Missense_Mutation_p.S16L|APOA5_uc009yzg.2_Intron NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 16 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) AGACCCACCTGAAAGAAGAGC 0.632 NA OREG0021366|OREG0003485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 30 0 0 0 0 ABCG4 64137 broad.mit.edu 37 11 119025544 119025544 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:119025544C>G uc001pvs.2 + 6 941 c.605C>G c.(604-606)TCT>TGT p.S202C ABCG4_uc009zar.2_Missense_Mutation_p.S202C NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 202 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCCTGCTCTCTGGCGGGCAG 0.622 NA 17 142 0 0 0 0 OR8B4 283162 broad.mit.edu 37 11 124294739 124294739 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr11:124294739G>A uc010sak.1 - 1 29 c.29C>T c.(28-30)ACT>ATT p.T10I NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GATAAACTCAGTCACTGAGGA 0.488 NA 6 45 0 0 0 0 C12orf5 57103 broad.mit.edu 37 12 4459054 4459054 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:4459054C>T uc001qmp.2 + 4 341 c.262C>T c.(262-264)CGG>TGG p.R88W NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 88 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) CTCAAGACTTCGGGAAAGGGT 0.353 NA 8 27 0 0 0 0 PCBP2 5094 broad.mit.edu 37 12 53849783 53849783 + Nonsense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:53849783G>T uc001sdl.3 + 5 591 c.241G>T c.(241-243)GAG>TAG p.E81* PCBP2_uc001sdc.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdb.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sde.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdi.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdd.3_Nonsense_Mutation_p.E81*|PCBP2_uc001sdf.3_Nonsense_Mutation_p.E81*|PCBP2_uc009zna.2_Intron|PCBP2_uc010soh.1_Nonsense_Mutation_p.E81*|PCBP2_uc009zmz.1_Intron NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 81 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 CAAACTGGAAGAGGTTTGTTG 0.413 NA 15 189 2.35e-11 2.61e-11 1 0 GRIP1 23426 broad.mit.edu 37 12 66786483 66786483 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:66786483G>T uc001stk.2 - 17 2328 c.2087C>A c.(2086-2088)ACC>AAC p.T696N GRIP1_uc010sta.1_Missense_Mutation_p.T640N|GRIP1_uc001stj.2_Missense_Mutation_p.T478N|GRIP1_uc001stl.1_Missense_Mutation_p.T588N|GRIP1_uc001stm.2_Missense_Mutation_p.T696N NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 748 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AATTTTCAAGGTGACAGTCTC 0.428 NA 10 94 0.000442599 0.000474089 1 0 PTPRB 5787 broad.mit.edu 37 12 70931979 70931979 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:70931979C>G uc001swb.3 - 26 5278 c.5248G>C c.(5248-5250)GAT>CAT p.D1750H uc001svz.2_RNA|PTPRB_uc010sto.1_Missense_Mutation_p.D1660H|PTPRB_uc010stp.1_Missense_Mutation_p.D1660H|PTPRB_uc001swc.3_Missense_Mutation_p.D1968H|PTPRB_uc001swa.3_Missense_Mutation_p.D1880H NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1750 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGATCATCATCTACATTGGAG 0.428 NA 10 58 0 0 0 0 PMCH 5367 broad.mit.edu 37 12 102591364 102591364 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:102591364G>T uc001tjl.2 - 1 251 c.185C>A c.(184-186)TCC>TAC p.S62Y NM_002674 NP_002665 P20382 MCH_HUMAN pro-melanin-concentrating hormone 62 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity 0 TTGTTCCAGGGAAGGAGCAAT 0.353 NA 10 39 0.00621372 0.0064766 1 0 APPL2 55198 broad.mit.edu 37 12 105568151 105568151 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:105568151G>A uc001tlf.1 - 21 2154 c.1936C>T c.(1936-1938)CAA>TAA p.Q646* APPL2_uc010swt.1_Nonsense_Mutation_p.Q603*|APPL2_uc001tlg.1_Nonsense_Mutation_p.Q400*|APPL2_uc010swu.1_Nonsense_Mutation_p.Q652* NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 646 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 TCATCTGGTTGATCGTTTAAC 0.453 NA 7 43 0 0 0 0 RIC8B 55188 broad.mit.edu 37 12 107245264 107245264 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:107245264G>A uc001tlx.2 + 7 1323 c.1198G>A c.(1198-1200)GAA>AAA p.E400K RIC8B_uc001tlw.2_Missense_Mutation_p.E400K|RIC8B_uc001tly.2_Missense_Mutation_p.E360K|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 400 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 AAATCGACCTGAAGTTGGCTC 0.448 NA 8 76 0 0 0 0 RIC8B 55188 broad.mit.edu 37 12 107245315 107245315 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:107245315G>A uc001tlx.2 + 7 1374 c.1249G>A c.(1249-1251)GAC>AAC p.D417N RIC8B_uc001tlw.2_Missense_Mutation_p.D417N|RIC8B_uc001tly.2_Missense_Mutation_p.D377N|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 417 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 GACACATGTTGACCTTGGAGT 0.448 NA 6 68 0 0 0 0 ATXN2 6311 broad.mit.edu 37 12 111956093 111956093 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:111956093G>A uc001tsj.2 - 9 1767 c.1605C>T c.(1603-1605)TTC>TTT p.F535F ATXN2_uc001tsh.2_Silent_p.F270F|ATXN2_uc001tsi.2_Silent_p.F246F|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.F270F NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 535 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 AATTCGGGTTGAAATCTGAAG 0.423 NA 15 73 0 0 0 0 MED13L 23389 broad.mit.edu 37 12 116429339 116429339 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:116429339G>C uc001tvw.2 - 17 3475 c.3420C>G c.(3418-3420)ATC>ATG p.I1140M NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1140 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCGCCCCTTTGATGTTCATGT 0.473 NA 16 70 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42873613 42873613 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:42873613C>T uc001uys.1 + 8 906 c.731C>T c.(730-732)TCA>TTA p.S244L NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 244 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CAGCAGAAGTCATTGGCTAAA 0.443 NA 15 56 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58208221 58208221 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:58208221C>T uc001vhq.1 + 1 2433 c.1541C>T c.(1540-1542)TCG>TTG p.S514L PCDH17_uc010aec.1_Missense_Mutation_p.S514L NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 514 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) ATCCTGCCCTCGCACATCGGC 0.592 NA 8 39 0 0 0 0 RNF219 79596 broad.mit.edu 37 13 79209281 79209281 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:79209281C>T uc001vkw.1 - 5 661 c.602G>A c.(601-603)CGA>CAA p.R201Q RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 201 Potential. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGCCTTCAGTCGTAAATTCTC 0.343 NA 7 50 0 0 0 0 GPC6 10082 broad.mit.edu 37 13 94938726 94938726 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr13:94938726C>A uc001vlt.2 + 5 1633 c.1001C>A c.(1000-1002)TCT>TAT p.S334Y GPC6_uc010tig.1_Missense_Mutation_p.S334Y NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 334 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ATGCAGGTGTCTGCAAAGGTA 0.418 NA 5 41 0.00116845 0.0012321 1 0 CDH24 64403 broad.mit.edu 37 14 23523465 23523465 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:23523465G>A uc001wil.2 - 6 1117 c.857C>T c.(856-858)CCA>CTA p.P286L CDH24_uc010akf.2_Missense_Mutation_p.P286L|CDH24_uc001win.3_Missense_Mutation_p.P286L NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 286 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCCCAGGTCTGGGTCCTGGGC 0.637 NA 35 164 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23897712 23897712 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:23897712C>T uc001wjx.2 - 15 1681 c.1575G>A c.(1573-1575)GAG>GAA p.E525E NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 525 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGGCACCTTCTCGATGAGGT 0.502 NA 7 50 0 0 0 0 FAM179B 23116 broad.mit.edu 37 14 45432505 45432505 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:45432505C>G uc001wvv.2 + 1 1090 c.881C>G c.(880-882)TCT>TGT p.S294C FAM179B_uc001wvw.2_Missense_Mutation_p.S294C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.S294C|FAM179B_uc001wvu.2_Missense_Mutation_p.S294C NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 294 binding skin(2)|upper_aerodigestive_tract(1) 3 AGGTTTCAATCTTACATTTCT 0.498 NA 20 89 0 0 0 0 PPM1A 5494 broad.mit.edu 37 14 60750214 60750214 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:60750214G>C uc010apn.2 + 3 1195 c.793G>C c.(793-795)GAG>CAG p.E265Q PPM1A_uc001xew.3_Missense_Mutation_p.E338Q|PPM1A_uc001xex.3_Missense_Mutation_p.E265Q|PPM1A_uc001xey.3_Missense_Mutation_p.E265Q NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 265 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGATGACCTTGAGAAAGTTTG 0.348 NA 8 86 0 0 0 0 ESRRB 2103 broad.mit.edu 37 14 76966231 76966231 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:76966231C>G uc001xsr.2 + 10 1693 c.1322C>G c.(1321-1323)TCT>TGT p.S441C ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 441 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTTAGAGGATCTCCCAAGGAT 0.512 NA 6 53 0 0 0 0 ASB2 51676 broad.mit.edu 37 14 94417555 94417555 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:94417555G>C uc001ycc.1 - 4 1015 c.526C>G c.(526-528)CTG>GTG p.L176V ASB2_uc001ycd.2_Missense_Mutation_p.L224V|ASB2_uc001yce.1_Missense_Mutation_p.L122V NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 176 ANK 4. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGCTGCACCAGAATCTTCACG 0.617 NA 5 57 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476268 102476268 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:102476268C>T uc001yks.2 + 30 6230 c.6066C>T c.(6064-6066)TAC>TAT p.Y2022Y NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2022 AAA 1 (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 ACCCTGGCTACGCGGGCCGGT 0.552 NA 7 38 0 0 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552205 102552205 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr14:102552205G>A uc001yku.3 - 3 609 c.419C>T c.(418-420)TCT>TTT p.S140F HSP90AA1_uc001ykv.3_Missense_Mutation_p.S262F|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.S129F NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 140 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CAAATAAGCAGAATAAAAACC 0.473 NA 16 52 0 0 0 0 NIPA2 81614 broad.mit.edu 37 15 23012399 23012399 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:23012399G>A uc001yux.2 - 7 941 c.328C>T c.(328-330)CTT>TTT p.L110F NIPA2_uc001yuy.2_Missense_Mutation_p.L110F|NIPA2_uc001yuz.2_Missense_Mutation_p.L110F|NIPA2_uc001yva.2_Missense_Mutation_p.L91F|NIPA2_uc001yvb.2_Missense_Mutation_p.L110F|NIPA2_uc010ayb.2_Missense_Mutation_p.L91F NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 110 Helical; (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) TTCCCATGAAGATTAAGTCTT 0.333 NA 9 67 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34131070 34131070 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:34131070G>A uc001zhi.2 + 89 12959 c.12889G>A c.(12889-12891)GAA>AAA p.E4297K RYR3_uc010bar.2_Missense_Mutation_p.E4292K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4297 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCATGGGCCTGAAGTGGGTTT 0.458 NA 7 34 0 0 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056145 48056145 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:48056145G>C uc010bek.2 + 10 1206 c.846G>C c.(844-846)CTG>CTC p.L282L SEMA6D_uc001zvw.2_Silent_p.L282L|SEMA6D_uc001zvx.1_Silent_p.L282L|SEMA6D_uc001zvy.2_Silent_p.L282L|SEMA6D_uc001zvz.2_Silent_p.L282L|SEMA6D_uc001zwa.2_Silent_p.L282L|SEMA6D_uc001zwb.2_Silent_p.L282L|SEMA6D_uc001zwc.2_Silent_p.L282L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 282 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGGCTCGGCTGAACTGTTCTG 0.488 NA 11 86 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90167507 90167507 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr15:90167507G>C uc002boe.2 + 20 3966 c.3966G>C c.(3964-3966)AAG>AAC p.K1322N C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1322 Pro-rich. cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCTCCAAGAAGAGTCCATTTA 0.463 NA 10 128 0 0 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962054 1962054 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:1962054G>A uc002cnf.2 - 2 473 c.473C>T c.(472-474)TCC>TTC p.S158F NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 158 0 GGCGTAGTCGGAGATGGCCCG 0.716 NA 5 31 0 0 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751533 27751533 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:27751533G>C uc002dow.2 + 15 1939 c.1915G>C c.(1915-1917)GAA>CAA p.E639Q NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 639 Potential. ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TCACTCGGAAGAAAGCAAAGG 0.562 NA 7 59 0 0 0 0 SRCAP 10847 broad.mit.edu 37 16 30749246 30749246 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:30749246G>A uc002dze.1 + 34 8270 c.7885G>A c.(7885-7887)GAG>AAG p.E2629K SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2424K NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2629 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGATTCTGCTGAGGGGACCAC 0.582 NA 16 80 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49672763 49672763 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:49672763G>A uc002efs.2 - 5 598 c.300C>T c.(298-300)CTC>CTT p.L100L ZNF423_uc010vgn.1_5'UTR NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 100 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) CCACCCAGGAGAGTTGTGGGT 0.587 NA 6 45 0 0 0 0 TK2 7084 broad.mit.edu 37 16 66562953 66562953 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:66562953C>T uc002eos.2 - 6 744 c.519G>A c.(517-519)TTG>TTA p.L173L TK2_uc010vip.1_Silent_p.L34L|TK2_uc002eor.2_Silent_p.L100L|TK2_uc010cdq.2_Silent_p.L100L|TK2_uc010cdr.2_Silent_p.L82L|TK2_uc010viq.1_Silent_p.L155L|TK2_uc010vir.1_Silent_p.L148L NM_004614 NP_004605 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 131 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) ACCTCTCCATCAACCGTACAG 0.393 NA 16 76 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72984803 72984803 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr16:72984803C>T uc002fck.2 - 3 3454 c.2781G>A c.(2779-2781)CTG>CTA p.L927L ZFHX3_uc002fcl.2_Silent_p.L13L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 927 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CCAGGTTCATCAGCTCCTCTG 0.617 NA 10 58 0 0 0 0 ALOX15 246 broad.mit.edu 37 17 4535217 4535217 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:4535217G>A uc002fyh.2 - 13 1790 c.1776C>T c.(1774-1776)ATC>ATT p.I592I ALOX15_uc010vsd.1_Silent_p.I553I|ALOX15_uc010vse.1_Silent_p.I614I NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 592 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GCTGCCAAGTGATGGACATCT 0.627 NA 4 47 0 0 0 0 CCDC144A 9720 broad.mit.edu 37 17 16594003 16594003 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:16594003G>C uc002gqk.1 + 1 365 c.289G>C c.(289-291)GAG>CAG p.E97Q NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 97 0 CCCTGGGGTGGAGCACATCTT 0.647 NA 69 197 0 0 0 0 KRT13 3860 broad.mit.edu 37 17 39659616 39659616 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:39659616G>A uc002hwu.1 - 3 721 c.658C>T c.(658-660)CTG>TTG p.L220L KRT13_uc002hwv.1_Silent_p.L220L|KRT13_uc002hww.2_Silent_p.L113L|KRT13_uc010wfr.1_Silent_p.L113L|KRT13_uc010cxo.2_Silent_p.L220L|KRT13_uc002hwx.1_Silent_p.L208L NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 220 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) GTCTTAGACAGAGTGAGCTCA 0.527 NA 20 111 0 0 0 0 WNT3 7473 broad.mit.edu 37 17 44895960 44895960 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:44895960C>G uc002ikv.2 - 1 123 c.4G>C c.(4-6)GAG>CAG p.E2Q NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 2 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGGTGGGGCTCCATTAGAAGA 0.602 NA 2 9 0 0 0 0 CSHL1 1444 broad.mit.edu 37 17 61988231 61988231 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:61988231G>C uc002jda.1 - 2 126 c.64C>G c.(64-66)CAA>GAA p.Q22E CSHL1_uc002jcz.1_Missense_Mutation_p.Q22E|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Missense_Mutation_p.Q22E|CSHL1_uc002jde.2_Missense_Mutation_p.Q50E|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.Q22E|CSHL1_uc002jdh.2_Intron NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 22 extracellular region hormone activity|metal ion binding 0 CCAGCCTCTTGAAGCCAGGGC 0.612 NA 5 57 0 0 0 0 COG1 9382 broad.mit.edu 37 17 71189326 71189326 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:71189326G>C uc002jjg.2 + 1 154 c.118G>C c.(118-120)GAG>CAG p.E40Q COG1_uc002jjh.2_Missense_Mutation_p.E40Q|COG1_uc002jjf.1_Missense_Mutation_p.E40Q NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 40 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) GGTTCGGGCCGAGATCGAGCA 0.687 NA 5 17 0 0 0 0 C17orf77 146723 broad.mit.edu 37 17 72588192 72588192 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:72588192G>A uc002jla.1 + 3 369 c.7G>A c.(7-9)GAA>AAA p.E3K CD300LD_uc002jkz.2_Intron NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 3 extracellular region 0 ATGGATGGATGAATTGGCGCT 0.443 NA 19 139 0 0 0 0 HGS 9146 broad.mit.edu 37 17 79663007 79663007 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:79663007C>T uc002kbg.2 + 15 1448 c.1371C>T c.(1369-1371)CTC>CTT p.L457L NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 457 Interaction with STAM1 (By similarity).|Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TGGAGCTGCTCAACCAGCTGG 0.672 NA 4 49 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31318686 31318686 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:31318686G>A uc010dmg.1 + 11 1373 c.1318G>A c.(1318-1320)GAG>AAG p.E440K ASXL3_uc002kxq.2_Missense_Mutation_p.E147K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATTGGAGTCAGAGGATATCTT 0.413 NA 13 49 0 0 0 0 TCF4 6925 broad.mit.edu 37 18 52928732 52928732 + Missense_Mutation SNP G G T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:52928732G>T uc002lfz.2 - 12 1567 c.955C>A c.(955-957)CAG>AAG p.Q319K TCF4_uc002lfw.3_Missense_Mutation_p.Q159K|TCF4_uc010xdu.1_Missense_Mutation_p.Q189K|TCF4_uc010xdv.1_Missense_Mutation_p.Q189K|TCF4_uc002lfx.2_Missense_Mutation_p.Q248K|TCF4_uc010xdw.1_Missense_Mutation_p.Q189K|TCF4_uc002lfy.2_Missense_Mutation_p.Q277K|TCF4_uc010xdx.1_Missense_Mutation_p.Q295K|TCF4_uc010dph.1_Missense_Mutation_p.Q319K|TCF4_uc010xdy.1_Missense_Mutation_p.Q295K|TCF4_uc002lga.2_Missense_Mutation_p.Q421K|TCF4_uc002lgb.1_Missense_Mutation_p.Q159K|TCF4_uc010dpi.2_Missense_Mutation_p.Q325K|TCF4_uc002lfv.2_Missense_Mutation_p.Q103K NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 319 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TCTCCAGTCTGGGAGCTGCCG 0.458 NA 43 227 8.17e-37 9.14e-37 1 0 MALT1 10892 broad.mit.edu 37 18 56402442 56402442 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr18:56402442G>C uc002lhm.1 + 13 1742 c.1484G>C c.(1483-1485)GGA>GCA p.G495A MALT1_uc002lhn.1_Missense_Mutation_p.G484A NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 495 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 aggtGTCAAGGAGCAGAAGCT 0.169 NA T BIRC3 MALT 4 22 0 0 0 0 C3 718 broad.mit.edu 37 19 6697749 6697749 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:6697749G>A uc002mfm.2 - 20 2559 c.2497C>T c.(2497-2499)CTG>TTG p.L833L NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 833 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) GGTAGCCGCAGGTCGATGAAG 0.567 NA 3 33 0 0 0 0 FBN3 84467 broad.mit.edu 37 19 8137035 8137035 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:8137035G>A uc002mjf.2 - 62 8006 c.7985C>T c.(7984-7986)CCG>CTG p.P2662L FBN3_uc002mje.2_Missense_Mutation_p.P458L NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2662 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CTCTTTGTCCGGGGTGTCCTG 0.662 NA 29 172 0 0 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10204163 10204163 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:10204163C>T uc002mmx.1 - 5 1202 c.1084G>A c.(1084-1086)GAT>AAT p.D362N ANGPTL6_uc002mmy.1_Missense_Mutation_p.D362N NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 362 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) GAGAAGCCATCATAGTGGGCA 0.622 NA 12 58 0 0 0 0 ZGLP1 100125288 broad.mit.edu 37 19 10415872 10415872 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:10415872G>A uc002mnw.3 - 4 1587 c.711C>T c.(709-711)TAC>TAT p.Y237Y NM_001103167 NP_001096637 P0C6A0 ZGLP1_HUMAN GATA like protein-1 237 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGCGAGTGCCGTATTTCTTGT 0.562 NA 8 46 0 0 0 0 ELOF1 84337 broad.mit.edu 37 19 11665079 11665079 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:11665079G>A uc002mse.1 - 2 148 c.84C>T c.(82-84)TTC>TTT p.F28F ELOF1_uc002msd.1_Silent_p.F49F NM_032377 NP_115753 P60002 ELOF1_HUMAN elongation factor 1 homolog (ELF1, S. 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding 0 CGTGGTTGCAGAAGGGGCAGG 0.572 NA 14 114 0 0 0 0 EMR2 30817 broad.mit.edu 37 19 14884783 14884783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:14884783C>T uc002mzp.1 - 4 622 c.166G>A c.(166-168)GAG>AAG p.E56K EMR2_uc010xnw.1_Missense_Mutation_p.E56K|EMR2_uc002mzo.1_Missense_Mutation_p.E56K|EMR2_uc002mzq.1_Missense_Mutation_p.E56K|EMR2_uc002mzr.1_Missense_Mutation_p.E56K|EMR2_uc002mzs.1_Missense_Mutation_p.E56K|EMR2_uc002mzt.1_Missense_Mutation_p.E56K|EMR2_uc002mzu.1_Missense_Mutation_p.E56K|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 56 Extracellular (Potential).|EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GTGATGATCTCAGAAAAAGAG 0.602 NA 29 109 0 0 0 0 F2RL3 9002 broad.mit.edu 37 19 17000712 17000712 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:17000712G>C uc002nfa.2 + 2 613 c.438G>C c.(436-438)GAG>GAC p.E146D NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 146 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CCTTCGGGGAGGCCGCCTGCC 0.706 NA 3 11 0 0 0 0 ZNF599 148103 broad.mit.edu 37 19 35251156 35251156 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:35251156G>C uc010edn.1 - 4 938 c.550C>G c.(550-552)CAA>GAA p.Q184E ZNF599_uc010edm.1_Missense_Mutation_p.Q147E NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CCTGGTCCTTGAGAGTCACAC 0.473 NA 7 127 0 0 0 0 LGI4 163175 broad.mit.edu 37 19 35616221 35616221 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:35616221G>A uc002nxx.2 - 9 2084 c.1490C>T c.(1489-1491)CCG>CTG p.P497L LGI4_uc002nxy.1_Missense_Mutation_p.P325L|LGI4_uc002nxz.1_3'UTR NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 497 extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CACCAGGGCCGGAGGCCCCAG 0.642 NA 10 51 0 0 0 0 CYP2B6 1555 broad.mit.edu 37 19 41522664 41522664 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:41522664C>G uc002opr.1 + 9 1415 c.1408C>G c.(1408-1410)CTG>GTG p.L470V CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.L270V NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 470 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AGACATCGATCTGACACCCCA 0.582 NA 7 24 0 0 0 0 POU2F2 5452 broad.mit.edu 37 19 42600050 42600050 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:42600050T>C uc002osp.2 - 9 762 c.695A>G c.(694-696)TAC>TGC p.Y232C POU2F2_uc002osn.2_Missense_Mutation_p.Y216C|POU2F2_uc002oso.2_Missense_Mutation_p.Y5C|POU2F2_uc002osq.2_Missense_Mutation_p.Y216C|POU2F2_uc002osr.1_Missense_Mutation_p.Y232C NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 232 POU-specific. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) GTCGTTGCCGTAGAGCTTGCC 0.652 NA 22 105 0 0 0 0 TRPM4 54795 broad.mit.edu 37 19 49692319 49692319 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:49692319C>T uc002pmw.2 + 14 2062 c.1990C>T c.(1990-1992)CGT>TGT p.R664C TRPM4_uc010emu.2_Missense_Mutation_p.R664C|TRPM4_uc010yak.1_Missense_Mutation_p.R128C|TRPM4_uc002pmx.2_Missense_Mutation_p.R490C|TRPM4_uc010emv.2_Missense_Mutation_p.R549C|TRPM4_uc010yal.1_Missense_Mutation_p.R310C|TRPM4_uc002pmy.2_Missense_Mutation_p.R6C NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 664 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) AGCTGACGCCCGTGCCTTCTT 0.622 NA 25 108 0 0 0 0 RCN3 57333 broad.mit.edu 37 19 50042435 50042435 + Silent SNP C C T rs151007768 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:50042435C>T uc002poj.2 + 5 1125 c.678C>T c.(676-678)ATC>ATT p.I226I NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 226 EF-hand 4. endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) AGGAGTACATCGGTGAGTGGG 0.577 NA 7 53 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55450689 55450689 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:55450689C>T uc002qih.3 - 4 1574 c.1498G>A c.(1498-1500)GTA>ATA p.V500I NLRP7_uc002qig.3_Missense_Mutation_p.V500I|NLRP7_uc002qii.3_Missense_Mutation_p.V500I|NLRP7_uc010esk.2_Missense_Mutation_p.V500I|NLRP7_uc010esl.2_Missense_Mutation_p.V528I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 500 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGCTTCTGTACGTCCCCGATG 0.567 NA 11 72 0 0 0 0 ZNF417 147687 broad.mit.edu 37 19 58420667 58420667 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr19:58420667T>C uc002qqq.2 - 3 1178 c.979A>G c.(979-981)AGA>GGA p.R327G ZNF417_uc010yhm.1_Missense_Mutation_p.R284G|ZNF417_uc002qqr.2_Missense_Mutation_p.R326G NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 327 C2H2-type 5; degenerate. 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)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CCATATTCTCTACACTCATAA 0.463 NA 12 257 0 0 0 0 TMEM178 130733 broad.mit.edu 37 2 39893244 39893244 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:39893244G>C uc002rrt.2 + 1 155 c.130G>C c.(130-132)GAG>CAG p.E44Q TMEM178_uc010fam.1_Missense_Mutation_p.E44Q NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 44 Extracellular (Potential). integral to membrane 0 all_hematologic(82;0.248) GGAGAGCTGCGAGCGCAGCCG 0.642 NA 5 24 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55546086 55546086 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:55546086C>G uc002ryv.2 - 19 4056 c.3214G>C c.(3214-3216)GAG>CAG p.E1072Q CCDC88A_uc010yoz.1_Missense_Mutation_p.E1073Q|CCDC88A_uc010ypa.1_Missense_Mutation_p.E1072Q|CCDC88A_uc002ryu.2_Missense_Mutation_p.E355Q|CCDC88A_uc002rys.2_Missense_Mutation_p.E58Q|CCDC88A_uc002ryw.2_Missense_Mutation_p.E356Q|CCDC88A_uc010fby.1_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1073 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TTCTGTGTCTCAAGTTGCTTC 0.383 NA 4 53 0 0 0 0 RGPD4 285190 broad.mit.edu 37 2 108487257 108487257 + Nonsense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:108487257C>T uc010ywk.1 + 20 2879 c.2797C>T c.(2797-2799)CAA>TAA p.Q933* RGPD4_uc002tdu.2_Nonsense_Mutation_p.Q120*|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 933 intracellular transport binding skin(2) 2 ACCAGGAAATCAAGAAAAGGA 0.413 NA 54 258 0 0 0 0 GALNT3 2591 broad.mit.edu 37 2 166615260 166615260 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:166615260G>A uc010fph.1 - 6 1575 c.1188C>T c.(1186-1188)TTC>TTT p.F396F GALNT3_uc010fpi.1_Silent_p.F396F NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 396 Catalytic subdomain B.|Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 AACTTACTCTGAAAGACATTT 0.308 NA 8 54 0 0 0 0 STK39 27347 broad.mit.edu 37 2 169023849 169023849 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:169023849G>A uc002uea.2 - 3 550 c.390C>T c.(388-390)GTC>GTT p.V130V NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 130 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 GTTCATCTTTGACCACAAAAG 0.378 NA 4 37 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170101261 170101261 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:170101261C>T uc002ues.2 - 22 3585 c.3372G>A c.(3370-3372)AAG>AAA p.K1124K LRP2_uc010zdf.1_Silent_p.K987K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1124 LDL-receptor class A 10.|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) AGACCCAGTTCTTTGAGATAC 0.493 NA 20 114 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175432655 175432655 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:175432655C>G uc002uiy.2 - 7 1608 c.1276G>C c.(1276-1278)GGG>CGG p.G426R uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G426R|WIPF1_uc010fqt.1_Missense_Mutation_p.G426R|WIPF1_uc002uiz.2_Missense_Mutation_p.G426R|WIPF1_uc002ujb.1_Missense_Mutation_p.G426R NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 426 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGAGGTGCCCCAGCACTGGGC 0.602 NA 10 64 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179414566 179414566 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:179414566C>T uc010zfg.1 - 287 84403 c.84179G>A c.(84178-84180)AGA>AAA p.R28060K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21755K|TTN_uc010zfi.1_Missense_Mutation_p.R21688K|TTN_uc010zfj.1_Missense_Mutation_p.R21563K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28987 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) ATTGGTGAATCTTATTGGCCC 0.403 NA 5 109 0 0 0 0 AOX1 316 broad.mit.edu 37 2 201534448 201534448 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:201534448G>A uc002uvx.2 + 34 4050 c.3949G>A c.(3949-3951)GAC>AAC p.D1317N AOX1_uc010zhf.1_Missense_Mutation_p.D873N|AOX1_uc010fsu.2_Missense_Mutation_p.D683N NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1317 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.D1317V(1) ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGCCTGTGAAGACAAGTTCAC 0.448 NA 17 114 0 0 0 0 PNKD 25953 broad.mit.edu 37 2 219204763 219204763 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:219204763C>A uc002vhn.2 + 4 508 c.364C>A c.(364-366)CTT>ATT p.L122I PNKD_uc002vhq.2_Missense_Mutation_p.L98I NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 122 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTGAAGGTGCTTCCCATCCC 0.652 NA 13 63 0.000151284 0.000162691 1 0 EPHA4 2043 broad.mit.edu 37 2 222298867 222298867 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:222298867G>A uc002vmq.2 - 14 2533 c.2491C>T c.(2491-2493)CAA>TAA p.Q831* EPHA4_uc002vmr.2_Nonsense_Mutation_p.Q831*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.Q772*|EPHA4_uc010zln.1_Nonsense_Mutation_p.Q831* NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 831 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTTACATCTTGATTGGACATA 0.408 NA 9 70 0 0 0 0 CHRNG 1146 broad.mit.edu 37 2 233405103 233405103 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:233405103G>A uc002vsx.1 + 3 229 c.208G>A c.(208-210)GAA>AAA p.E70K CHRNG_uc010fyd.2_Missense_Mutation_p.E70K|CHRNG_uc010fye.1_Missense_Mutation_p.E70K NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 70 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGAGCGAGAGGAAGCCCTCAC 0.632 NA 17 78 0 0 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949960 235949960 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr2:235949960G>A uc002vvp.2 + 4 940 c.547G>A c.(547-549)GAG>AAG p.E183K SH3BP4_uc010fym.2_Missense_Mutation_p.E183K|SH3BP4_uc002vvq.2_Missense_Mutation_p.E183K NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 183 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGCCTGGATGAGCTGAATCC 0.493 NA 29 115 0 0 0 0 TGM6 343641 broad.mit.edu 37 20 2378615 2378615 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:2378615G>A uc002wfy.1 + 5 656 c.595G>A c.(595-597)GGT>AGT p.G199S TGM6_uc010gal.1_Missense_Mutation_p.G199S NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 199 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) TCGAAGCCCCGGTCACCAAAA 0.587 NA 6 69 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9520219 9520219 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:9520219C>G uc002wnl.2 - 11 2595 c.2050G>C c.(2050-2052)GAG>CAG p.E684Q PAK7_uc002wnk.2_Missense_Mutation_p.E684Q|PAK7_uc002wnj.2_Missense_Mutation_p.E684Q|PAK7_uc010gby.1_Missense_Mutation_p.E597Q NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 684 Protein kinase. 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) TGAGAGGGCTCCCTCACCAAC 0.507 NA 26 152 0 0 0 0 CST9 128822 broad.mit.edu 37 20 23586433 23586433 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:23586433G>C uc002wtl.2 - 1 178 c.69C>G c.(67-69)CTC>CTG p.L23L NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 23 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) AAGTCACCAGGAGCTGGAAGC 0.532 NA 14 104 0 0 0 0 RBM39 9584 broad.mit.edu 37 20 34302145 34302145 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:34302145G>A uc002xeb.2 - 11 1402 c.1058C>T c.(1057-1059)ACA>ATA p.T353I RBM39_uc002xdz.2_Missense_Mutation_p.T329I|RBM39_uc002xea.2_Missense_Mutation_p.T196I|RBM39_uc010gfn.2_Missense_Mutation_p.T196I|RBM39_uc010zvm.1_Missense_Mutation_p.T331I|RBM39_uc002xeg.2_Missense_Mutation_p.T331I|RBM39_uc002xec.2_Missense_Mutation_p.T353I|RBM39_uc002xed.2_Missense_Mutation_p.T71I|RBM39_uc002xee.2_Missense_Mutation_p.T196I|RBM39_uc002xef.2_Missense_Mutation_p.T196I|RBM39_uc010zvn.1_Missense_Mutation_p.T196I NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 353 Activating domain (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) ACGACCAGTTGTTCCCAAATC 0.408 NA 8 66 0 0 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869389 36869389 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:36869389C>G uc002xhy.1 - 3 1416 c.1144G>C c.(1144-1146)GAC>CAC p.D382H KIAA1755_uc002xhz.1_Missense_Mutation_p.D382H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 382 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GAGGCACAGTCCAGTGCGTCC 0.547 NA 30 172 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57429096 57429096 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:57429096C>T uc002xzw.2 + 1 1061 c.776C>T c.(775-777)GCG>GTG p.A259V GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCGGCAGTCGCGGCCTCGAGT 0.667 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 6 28 0 0 0 0 ARFRP1 10139 broad.mit.edu 37 20 62331810 62331810 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr20:62331810C>G uc002yga.2 - 7 1158 c.591G>C c.(589-591)CAG>CAC p.Q197H ARFRP1_uc002ygc.2_Missense_Mutation_p.Q197H|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.Q197H|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 197 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) TGATGTCCCTCTGCCGCGGCG 0.682 NA 3 62 0 0 0 0 SON 6651 broad.mit.edu 37 21 34923116 34923116 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr21:34923116C>T uc002yse.1 + 3 1628 c.1579C>T c.(1579-1581)CAT>TAT p.H527Y SON_uc002ysb.1_Missense_Mutation_p.H527Y|SON_uc002ysc.2_Missense_Mutation_p.H527Y|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 527 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 ACATCCTGGGCATCCTGAGGT 0.592 NA 21 125 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38525425 38525425 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr21:38525425G>C uc002yvz.2 + 27 2693 c.2588G>C c.(2587-2589)AGA>ACA p.R863T TTC3_uc011aee.1_Missense_Mutation_p.R553T|TTC3_uc002ywa.2_Missense_Mutation_p.R863T|TTC3_uc002ywb.2_Missense_Mutation_p.R863T|TTC3_uc010gnf.2_Missense_Mutation_p.R628T|TTC3_uc002ywc.2_Missense_Mutation_p.R553T|TTC3_uc011aed.1_Missense_Mutation_p.R553T NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 863 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TTTTCTAGCAGAAATTTTCTA 0.348 NA 18 86 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr22:36708234C>T uc003apg.2 - 14 1819 c.1588G>A c.(1588-1590)GAG>AAG p.E530K MYH9_uc003aph.1_Missense_Mutation_p.E394K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 530 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CAGCACTCCTCGTCCAGCAGG 0.637 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 12 65 0 0 0 0 MST1 4485 broad.mit.edu 37 3 49722464 49722464 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:49722464G>C uc003cxg.2 - 14 1675 c.1603C>G c.(1603-1605)CGG>GGG p.R535G NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 521 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGCACTGCCGGGCAGTCAGT 0.592 NA 3 18 0 0 0 0 TOPBP1 11073 broad.mit.edu 37 3 133368367 133368367 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:133368367G>C uc003eps.2 - 10 1496 c.1364C>G c.(1363-1365)TCA>TGA p.S455* NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 455 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 AGGCTTATGTGAAACTGGAAT 0.393 NA Other_conserved_DNA_damage_response_genes 35 124 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134911464 134911464 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:134911464G>C uc003eqt.2 + 11 2149 c.1929G>C c.(1927-1929)AAG>AAC p.K643N EPHB1_uc003equ.2_Missense_Mutation_p.K204N NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 643 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TGCCAGGCAAGAGGGAAATCT 0.527 NA 10 37 0 0 0 0 ESYT3 83850 broad.mit.edu 37 3 138187688 138187688 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:138187688G>A uc003esk.2 + 14 1625 c.1399G>A c.(1399-1401)GAA>AAA p.E467K ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 467 C2 2. integral to membrane|plasma membrane 0 CCTGAATGGTGAATATCGAGC 0.463 NA 44 363 0 0 0 0 ATR 545 broad.mit.edu 37 3 142241603 142241603 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:142241603G>A uc003eux.3 - 23 4355 c.4233C>T c.(4231-4233)AGC>AGT p.S1411S NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1411 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTTGAGCTCGGCTATTATCAG 0.358 NA Other_conserved_DNA_damage_response_genes 42 121 0 0 0 0 ATR 545 broad.mit.edu 37 3 142285073 142285073 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:142285073G>C uc003eux.3 - 3 304 c.182C>G c.(181-183)TCT>TGT p.S61C NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 61 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GGTTGGCTGAGAGTCAGTTTT 0.378 NA Other_conserved_DNA_damage_response_genes 4 36 0 0 0 0 C3orf79 152118 broad.mit.edu 37 3 153202424 153202424 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:153202424C>G uc003ezt.2 + 1 141 c.79C>G c.(79-81)CTT>GTT p.L27V NM_001101337 NP_001094807 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 27 0 CAGTTGCCATCTTCTGCCTAC 0.413 NA 19 236 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155200325 155200325 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:155200325G>A uc011bok.1 - 23 3791 c.3514C>T c.(3514-3516)CTG>TTG p.L1172L PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.L1134L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1172 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTCTCCTGCAGAATTGCAGTT 0.458 NA 8 42 0 0 0 0 DGKG 1608 broad.mit.edu 37 3 185882740 185882740 + Silent SNP G G A rs137961016 byFrequency TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:185882740G>A uc003fqa.2 - 23 2700 c.2163C>T c.(2161-2163)ACC>ACT p.T721T DGKG_uc003fqb.2_Silent_p.T682T|DGKG_uc003fqc.2_Silent_p.T696T|DGKG_uc011brx.1_Silent_p.T662T NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 721 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCTTCAGGCCGGTGTAGATCT 0.587 NA 13 52 0 0 0 0 FETUB 26998 broad.mit.edu 37 3 186358276 186358276 + Silent SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186358276C>A uc010hyq.2 + 2 288 c.27C>A c.(25-27)CTC>CTA p.L9L FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.L9L|FETUB_uc003fqo.2_Translation_Start_Site|FETUB_uc010hyr.2_Silent_p.L9L|FETUB_uc010hys.2_Translation_Start_Site|FETUB_uc003fqp.3_Silent_p.L9L NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 9 L -> P (in Ref. 6; AAH74734). extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCCTGGCACTCTGCATCCTAG 0.597 NA 77 209 1.41e-51 1.58e-51 1 0 ST6GAL1 6480 broad.mit.edu 37 3 186793540 186793540 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186793540C>T uc003frb.2 + 8 1602 c.1170C>T c.(1168-1170)ATC>ATT p.I390I ST6GAL1_uc003frc.2_Silent_p.I159I|ST6GAL1_uc003frd.2_Silent_p.I390I NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 390 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) ATGAGGACATCTACCTGCTTG 0.507 NA 5 81 0 0 0 0 RTP1 132112 broad.mit.edu 37 3 186917561 186917561 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:186917561C>G uc003frg.2 + 2 525 c.495C>G c.(493-495)TGC>TGG p.C165W NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 165 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GCGAGCAGTGCTACGGCGAGC 0.687 NA 21 29 0 0 0 0 C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 NA 4 46 0 0 0 0 IQCG 84223 broad.mit.edu 37 3 197665630 197665630 + Nonsense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr3:197665630C>A uc003fyo.2 - 4 450 c.304G>T c.(304-306)GAA>TAA p.E102* IQCG_uc003fyn.2_Nonsense_Mutation_p.E4*|IQCG_uc003fyp.2_Nonsense_Mutation_p.E102*|IQCG_uc003fyq.3_Nonsense_Mutation_p.E102* NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 102 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TTCGTTCCTTCTAGATTCATT 0.338 NA 27 184 2.45e-14 2.72e-14 1 0 DGKQ 1609 broad.mit.edu 37 4 957073 957073 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:957073C>T uc003gbw.2 - 16 1814 c.1740G>A c.(1738-1740)GCG>GCA p.A580A DGKQ_uc010ibn.2_Silent_p.A567A NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 580 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGGGCAGCTTCGCGTGCTGAC 0.652 NA 10 38 0 0 0 0 ADRA2C 152 broad.mit.edu 37 4 3768939 3768939 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:3768939C>T uc003ghm.2 + 1 644 c.606C>T c.(604-606)TGC>TGT p.C202C ADRA2C_uc010icx.2_Silent_p.C202C NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 202 Extracellular (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) ACCCGCAGTGCGGCCTCAACG 0.672 NA 3 25 0 0 0 0 WDR19 57728 broad.mit.edu 37 4 39276495 39276495 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:39276495C>T uc003gtv.2 + 33 3787 c.3633C>T c.(3631-3633)TTC>TTT p.F1211F WDR19_uc011byi.1_Silent_p.F1051F|WDR19_uc003gtw.1_Silent_p.F808F NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1211 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ACTCTGCTTTCAGCTTCGCAG 0.488 NA 8 96 0 0 0 0 GUF1 60558 broad.mit.edu 37 4 44700691 44700691 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:44700691C>G uc003gww.3 + 17 2210 c.2003C>G c.(2002-2004)TCT>TGT p.S668C GUF1_uc011bza.1_Missense_Mutation_p.S75C NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 668 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 ACACAATCTTCTAAATAATTG 0.308 NA 9 26 0 0 0 0 RUFY3 22902 broad.mit.edu 37 4 71628306 71628306 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:71628306G>C uc003hfq.2 + 2 844 c.249G>C c.(247-249)TTG>TTC p.L83F RUFY3_uc003hfp.3_Missense_Mutation_p.L143F|RUFY3_uc011cax.1_Missense_Mutation_p.L101F|RUFY3_uc003hfr.2_Missense_Mutation_p.L83F|RUFY3_uc011cay.1_Missense_Mutation_p.L19F NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 83 negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) TCAAGGGCTTGATTGAATCAG 0.473 NA 29 200 0 0 0 0 GK2 2712 broad.mit.edu 37 4 80328806 80328806 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:80328806G>C uc003hlu.2 - 1 567 c.549C>G c.(547-549)ATC>ATG p.I183M NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 183 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TCAAACTCCAGATAAGCCATG 0.403 NA 4 80 0 0 0 0 THAP9 79725 broad.mit.edu 37 4 83838784 83838784 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:83838784G>C uc003hnt.2 + 5 1538 c.1419G>C c.(1417-1419)CTG>CTC p.L473L THAP9_uc003hns.1_Silent_p.L329L|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Silent_p.L190L NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 473 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) ATCATGTACTGAAAGTGAATA 0.388 NA 21 104 0 0 0 0 MEPE 56955 broad.mit.edu 37 4 88766888 88766888 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:88766888G>A uc003hqy.2 + 4 907 c.868G>A c.(868-870)GAA>AAA p.E290K MEPE_uc010ikn.2_Missense_Mutation_p.E177K NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 290 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGGCCCAAGTGAAGCTGAGAG 0.448 NA 9 55 0 0 0 0 FAM13A 10144 broad.mit.edu 37 4 89652580 89652580 + Splice_Site SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:89652580C>G uc003hse.1 - 23 3052 c.2844_splice c.e23-1 p.I948_splice FAM13A_uc011cdp.1_Splice_Site_p.I50_splice|FAM13A_uc003hsa.1_Splice_Site_p.I391_splice|FAM13A_uc003hsb.1_Splice_Site_p.I622_splice|FAM13A_uc003hsd.1_Splice_Site_p.I594_splice|FAM13A_uc003hsc.1_Splice_Site_p.I608_splice|FAM13A_uc011cdq.1_Splice_Site_p.I594_splice|FAM13A_uc003hsf.1_Splice_Site_p.I534_splice|FAM13A_uc003hsg.1_Intron NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GAGTTCAGGTCTAAGAGAGAG 0.398 NA 4 31 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111397596 111397596 + Missense_Mutation SNP C C G rs147278588 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:111397596C>G uc003iab.3 + 1 368 c.26C>G c.(25-27)TCT>TGT p.S9C NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 9 Cytoplasmic (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AGAGAGGGCTCTAAGAGATAC 0.433 NA 17 121 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114158298 114158298 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:114158298G>C uc003ibe.3 + 6 739 c.639G>C c.(637-639)CAG>CAC p.Q213H ANK2_uc003ibd.3_Missense_Mutation_p.Q192H|ANK2_uc003ibf.3_Missense_Mutation_p.Q213H|ANK2_uc003ibc.2_Missense_Mutation_p.Q189H|ANK2_uc011cgb.1_Missense_Mutation_p.Q228H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 213 ANK 6. 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) TTCTGCTTCAGAATGACCACA 0.488 NA 11 125 0 0 0 0 TNIP3 79931 broad.mit.edu 37 4 122068285 122068285 + Silent SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:122068285T>C uc010ing.2 - 7 850 c.654A>G c.(652-654)CGA>CGG p.R218R TNIP3_uc010inh.2_Silent_p.R218R|TNIP3_uc011cgj.1_Silent_p.R276R NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 218 Potential. ovary(1) 1 TAAGTCTCTCTCGATCCGATC 0.373 NA 7 70 0 0 0 0 QRFPR 84109 broad.mit.edu 37 4 122301463 122301463 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:122301463C>A uc010inj.1 - 1 719 c.340G>T c.(340-342)GGT>TGT p.G114C QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.G114C|QRFPR_uc010inl.1_Missense_Mutation_p.G114C NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 114 Extracellular (Potential). plasma membrane neuropeptide Y receptor activity 0 CGACTCTTACCCCCCAGCCAG 0.443 NA 12 73 0.000978159 0.00103547 1 0 MFSD8 256471 broad.mit.edu 37 4 128842692 128842692 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:128842692C>A uc003ifp.2 - 12 1500 c.1337G>T c.(1336-1338)GGA>GTA p.G446V MFSD8_uc011cgu.1_Missense_Mutation_p.G401V|MFSD8_uc011cgv.1_3'UTR NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 446 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 AGGTTTTGGTCCTAGAATTTT 0.378 NA 6 50 0.00116845 0.0012321 1 0 MAML3 55534 broad.mit.edu 37 4 140811093 140811093 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:140811093C>T uc003ihz.1 - 2 2249 c.1497G>A c.(1495-1497)CAG>CAA p.Q499Q MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 499 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.264 NA 3 46 0 0 0 0 GLRB 2743 broad.mit.edu 37 4 158057783 158057783 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:158057783C>T uc003ipj.2 + 5 662 c.460C>T c.(460-462)CAT>TAT p.H154Y NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 154 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TGCCAATTTTCATGATGTGAC 0.353 NA 17 106 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187532590 187532590 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187532590G>C uc003izf.2 - 14 9991 c.9803C>G c.(9802-9804)TCA>TGA p.S3268* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3268 Extracellular (Potential).|Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACTTATTATTGAGTAGGTGAT 0.403 NA HNSCC(5;0.00058) 7 27 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187539227 187539227 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187539227G>C uc003izf.2 - 10 8701 c.8513C>G c.(8512-8514)TCA>TGA p.S2838* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2838 Extracellular (Potential).|Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTTGGTTCCTGAGTCAGCATC 0.448 NA HNSCC(5;0.00058) 15 106 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187629184 187629184 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr4:187629184G>A uc003izf.2 - 2 1986 c.1798C>T c.(1798-1800)CAG>TAG p.Q600* FAT1_uc010iso.1_Nonsense_Mutation_p.Q600* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 600 Extracellular (Potential).|Cadherin 5. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGTACCAACTGAAGTTCATCT 0.408 NA HNSCC(5;0.00058) 6 41 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13841896 13841896 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:13841896G>C uc003jfd.2 - 33 5431 c.5389C>G c.(5389-5391)CAG>GAG p.Q1797E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1797 Stem (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) AATGAGGACTGAGATTCTTCC 0.438 NA Kartagener_syndrome 7 50 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13883188 13883188 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:13883188G>A uc003jfd.2 - 20 3041 c.2999C>T c.(2998-3000)TCT>TTT p.S1000F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1000 Stem (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) CTTCATGTTAGAGGCACTGTT 0.378 NA Kartagener_syndrome 13 92 0 0 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122518 36122518 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:36122518C>A uc003jkb.1 - 9 1399 c.984G>T c.(982-984)CAG>CAT p.Q328H NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 328 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCAAAAGAATCTGCCATTGTA 0.408 NA 4 40 0.00909568 0.00940813 1 0 TTC33 23548 broad.mit.edu 37 5 40747077 40747077 + Nonsense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:40747077G>C uc003jma.2 - 2 192 c.44C>G c.(43-45)TCA>TGA p.S15* TTC33_uc011cpm.1_5'UTR|TTC33_uc010ivg.2_Nonsense_Mutation_p.S15* NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 15 binding ovary(1) 1 AGTGACCTTTGAGACCTTCTC 0.388 NA 6 46 0 0 0 0 C6 729 broad.mit.edu 37 5 41203191 41203191 + Missense_Mutation SNP T T C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:41203191T>C uc003jmk.2 - 2 352 c.142A>G c.(142-144)AGA>GGA p.R48G C6_uc003jml.1_Missense_Mutation_p.R48G NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 48 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACACCCACCTGTGTCTGCTC 0.478 NA 6 238 0 0 0 0 BTF3 689 broad.mit.edu 37 5 72798854 72798854 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:72798854G>C uc003kcr.1 + 4 672 c.429G>C c.(427-429)CTG>CTC p.L143L BTF3_uc003kcq.1_Silent_p.L99L|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA NM_001037637 NP_001032726 P20290 BTF3_HUMAN basic transcription factor 3 isoform A 143 NAC-A/B. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding 0 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CAAAGCAGCTGACAGAAATGC 0.473 NA 15 86 0 0 0 0 REEP5 7905 broad.mit.edu 37 5 112256898 112256898 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:112256898G>C uc003kqe.1 - 2 318 c.174C>G c.(172-174)CTC>CTG p.L58L REEP5_uc011cvw.1_Silent_p.L31L|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.L58L|REEP5_uc011cvz.1_RNA NM_005669 NP_005660 Q00765 REEP5_HUMAN receptor accessory protein 5 58 integral to membrane protein binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TCAGGTTGCAGAGGAGAGAGG 0.597 NA 7 43 0 0 0 0 HSD17B4 3295 broad.mit.edu 37 5 118832266 118832266 + Silent SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:118832266G>C uc003ksj.2 + 12 1020 c.897G>C c.(895-897)CTG>CTC p.L299L HSD17B4_uc011cwg.1_Silent_p.L275L|HSD17B4_uc011cwh.1_Silent_p.L281L|HSD17B4_uc011cwi.1_Silent_p.L324L|HSD17B4_uc003ksk.3_Silent_p.L152L|HSD17B4_uc011cwj.1_Silent_p.L152L|HSD17B4_uc010jcn.1_Silent_p.L37L NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 299 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TTGAAGTTCTGAGTAAAATAG 0.333 NA 8 115 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131930643 131930643 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:131930643G>A uc003kxi.2 + 12 2263 c.1876G>A c.(1876-1878)GAA>AAA p.E626K RAD50_uc003kxh.2_Missense_Mutation_p.E487K NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 626 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCCAGTTACGAAGACAAGCT 0.338 NA Homologous_recombination 12 63 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176795 140176795 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140176795C>T uc003lhd.2 + 1 2352 c.2246C>T c.(2245-2247)TCT>TTT p.S749F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S749F|PCDHA2_uc011czy.1_Missense_Mutation_p.S749F NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 749 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. 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) GGGAGCTGGTCTTACTCGCAG 0.672 NA 19 77 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263342 140263342 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140263342C>T uc003lif.2 + 1 1489 c.1489C>T c.(1489-1491)CGG>TGG p.R497W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R497W|PCDHA13_uc003lid.2_Missense_Mutation_p.R497W NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 497 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAGCGGCGGGTGGG 0.662 NA 12 85 0 0 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741419 140741419 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140741419G>A uc003ljs.1 + 1 1717 c.1717G>A c.(1717-1719)GCC>ACC p.A573T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A573T|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 573 Extracellular (Potential).|Cadherin 6. 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) TGATGGCTCCGCCCTCTTCGA 0.667 NA 12 54 0 0 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779485 140779485 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:140779485C>T uc003lkf.1 + 1 1791 c.1791C>T c.(1789-1791)AAC>AAT p.N597N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.N597N NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 597 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGACACAACGCCTGGCTGT 0.677 NA 12 71 0 0 0 0 RELL2 285613 broad.mit.edu 37 5 141019745 141019745 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:141019745G>A uc003lli.2 + 6 1610 c.762G>A c.(760-762)GGG>GGA p.G254G RELL2_uc003llh.2_Silent_p.G254G|RELL2_uc003llg.2_Silent_p.G188G|RELL2_uc010jgf.2_Silent_p.G188G|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR NM_001130029 NP_001123501 Q8NC24 RELL2_HUMAN RELT-like 2 254 integral to membrane|plasma membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTTGAAGGGAACCCCAGAG 0.647 NA 4 58 0 0 0 0 STK32A 202374 broad.mit.edu 37 5 146750271 146750271 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr5:146750271G>C uc010jgn.1 + 9 995 c.715G>C c.(715-717)GAG>CAG p.E239Q STK32A_uc003lom.2_Missense_Mutation_p.E239Q|STK32A_uc011dbw.1_Missense_Mutation_p.E239Q NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 239 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACACGTTTGAGACGACTGT 0.398 NA 9 131 0 0 0 0 GCNT2 2651 broad.mit.edu 37 6 10529667 10529667 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:10529667G>A uc010joo.2 + 3 1074 c.523G>A c.(523-525)GAA>AAA p.E175K GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.E174K|GCNT2_uc010jon.2_Missense_Mutation_p.E174K NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 175 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GAACTGCCTGGAAGACCTTGT 0.507 NA 21 39 0 0 0 0 OR2J3 442186 broad.mit.edu 37 6 29079743 29079743 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:29079743C>G uc011dll.1 + 1 76 c.76C>G c.(76-78)CTG>GTG p.L26V NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGGCCTCATCTGGAAGTAGT 0.383 NA 33 109 0 0 0 0 MDC1 9656 broad.mit.edu 37 6 30671732 30671732 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:30671732G>C uc003nrg.3 - 10 5668 c.5228C>G c.(5227-5229)TCT>TGT p.S1743C MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1350C NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1743 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CAAGGGTGCAGAGCAAGGCTT 0.562 NA Other_conserved_DNA_damage_response_genes 19 66 0 0 0 0 PSORS1C2 170680 broad.mit.edu 37 6 31106763 31106763 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:31106763C>A uc003nso.3 - 1 365 c.41G>T c.(40-42)TGC>TTC p.C14F PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron NM_014069 NP_054788 Q9UIG4 PS1C2_HUMAN SPR1 protein precursor 14 extracellular region 0 GGTGTGCAGGCAAAGGACCAG 0.597 NA 10 51 0.00829132 0.00862552 1 0 DST 667 broad.mit.edu 37 6 56374648 56374648 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:56374648G>A uc003pdf.2 - 68 12475 c.12447C>T c.(12445-12447)ATC>ATT p.I4149I DST_uc003pcz.3_Silent_p.I3971I|DST_uc011dxj.1_Silent_p.I4000I|DST_uc011dxk.1_Silent_p.I4011I|DST_uc003pcy.3_Silent_p.I3645I NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6057 Spectrin 12. 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) GGCTCTCAAGGATCTGATCTA 0.398 NA 5 45 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83810518 83810518 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:83810518G>C uc003pjs.1 + 4 493 c.233G>C c.(232-234)GGA>GCA p.G78A DOPEY1_uc011dyy.1_Missense_Mutation_p.G78A|DOPEY1_uc010kbl.1_Missense_Mutation_p.G78A NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 78 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTACCAGGTGGAGTTCATCGG 0.363 NA 26 181 0 0 0 0 RARS2 57038 broad.mit.edu 37 6 88251661 88251661 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:88251661G>C uc003pme.2 - 8 647 c.587C>G c.(586-588)TCC>TGC p.S196C RARS2_uc003pmb.2_Missense_Mutation_p.S21C|RARS2_uc003pmc.2_Missense_Mutation_p.S21C|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 196 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) TAGAGGATTGGACTGCAGTTT 0.363 NA 4 26 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111696128 111696128 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:111696128C>T uc003puy.3 - 13 3753 c.3430G>A c.(3430-3432)GAA>AAA p.E1144K REV3L_uc003pux.3_Missense_Mutation_p.E1066K|REV3L_uc003puz.3_Missense_Mutation_p.E1066K NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1144 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCCTCTTTTTCTGCAGCAGCC 0.418 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 15 117 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129714246 129714246 + Missense_Mutation SNP A A G rs141950826 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:129714246A>G uc003qbn.2 + 37 5396 c.5291A>G c.(5290-5292)GAA>GGA p.E1764G LAMA2_uc003qbo.2_Missense_Mutation_p.E1764G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1764 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCCCGGGGGGAAAATGAAGAA 0.453 NA 3 73 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152557387 152557387 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:152557387C>G uc010kiw.2 - 110 20853 c.20251G>C c.(20251-20253)GAT>CAT p.D6751H SYNE1_uc010kiv.2_Missense_Mutation_p.D1275H|SYNE1_uc003qos.3_Missense_Mutation_p.D1275H|SYNE1_uc003qot.3_Missense_Mutation_p.D6680H|SYNE1_uc003qou.3_Missense_Mutation_p.D6751H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6751 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) TTCCCATCATCTAATACTTGA 0.328 NA HNSCC(10;0.0054) 5 50 0 0 0 0 CCR6 1235 broad.mit.edu 37 6 167550802 167550802 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr6:167550802G>A uc003qvl.2 + 13 3560 c.1084G>A c.(1084-1086)GAG>AAG p.E362K CCR6_uc010kkm.2_Missense_Mutation_p.E362K|CCR6_uc003qvn.3_Missense_Mutation_p.E362K|CCR6_uc003qvm.3_Missense_Mutation_p.E362K NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 362 Cytoplasmic (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GCAGACCAGTGAGACCGCAGA 0.438 NA 5 52 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31683300 31683300 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:31683300G>A uc003tcj.1 + 11 3309 c.2316G>A c.(2314-2316)TTG>TTA p.L772L CCDC129_uc011kad.1_Silent_p.L782L|CCDC129_uc003tci.1_Silent_p.L623L|CCDC129_uc011kae.1_Silent_p.L798L|CCDC129_uc003tck.1_Silent_p.L680L NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 772 0 ACAAGACCTTGACACATGGGC 0.502 NA 17 79 0 0 0 0 HECW1 23072 broad.mit.edu 37 7 43531746 43531746 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:43531746C>G uc003tid.1 + 18 3912 c.3307C>G c.(3307-3309)CGA>GGA p.R1103G HECW1_uc011kbi.1_Missense_Mutation_p.R1069G NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1103 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.R1103H(1) ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGCTGCTATTCGAAGCCAACA 0.423 NA 9 73 0 0 0 0 C7orf57 136288 broad.mit.edu 37 7 48092304 48092304 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:48092304C>G uc003toh.3 + 7 825 c.613C>G c.(613-615)CAA>GAA p.Q205E C7orf57_uc003toi.3_Intron NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 205 ovary(1) 1 AAGGCCTGGTCAAAAAAACAG 0.408 NA 5 99 0 0 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513306 50513306 + Silent SNP C C T rs143012740 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:50513306C>T uc003tpc.2 - 4 2057 c.1680G>A c.(1678-1680)GTG>GTA p.V560V FIGNL1_uc003tpb.2_Silent_p.V449V|FIGNL1_uc003tpd.2_Silent_p.V560V|FIGNL1_uc003tpe.2_Silent_p.V560V|FIGNL1_uc010kyy.2_Silent_p.V560V NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 560 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) AAAGCCTTTTCACCAATCTTC 0.433 NA 4 92 0 0 0 0 CCDC146 57639 broad.mit.edu 37 7 76924175 76924175 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:76924175G>C uc003uga.2 + 19 2987 c.2860G>C c.(2860-2862)GAA>CAA p.E954Q CCDC146_uc010ldp.2_Missense_Mutation_p.E668Q|CCDC146_uc003ugc.2_Missense_Mutation_p.E291Q NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 954 ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAAGCCAGTTGAAATCTGAAT 0.413 NA 4 27 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86468876 86468876 + Missense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:86468876C>A uc003uid.2 + 4 3145 c.2046C>A c.(2044-2046)TTC>TTA p.F682L GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.F554L|GRM3_uc010leh.2_Missense_Mutation_p.F274L NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 682 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGCCAAAATTCATCAGCCCCA 0.542 NA 18 71 2.35e-11 2.61e-11 1 0 C7orf63 79846 broad.mit.edu 37 7 89939442 89939442 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:89939442C>T uc010lep.2 + 23 2967 c.2716C>T c.(2716-2718)CTG>TTG p.L906L C7orf63_uc011khj.1_Silent_p.L888L|C7orf63_uc011khk.1_Silent_p.L422L NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 906 binding ovary(1) 1 AGGAGGACCTCTGGTTGATAC 0.433 NA 6 74 0 0 0 0 HBP1 26959 broad.mit.edu 37 7 106826264 106826264 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:106826264C>T uc003vdy.2 + 4 603 c.417C>T c.(415-417)ATC>ATT p.I139I HBP1_uc011klv.1_Silent_p.I149I|HBP1_uc003vdz.2_Silent_p.I139I|HBP1_uc003vea.2_Silent_p.I139I|HBP1_uc003veb.1_Silent_p.I139I NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 139 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 CTGTACACATCATAGCCACTA 0.403 NA 18 133 0 0 0 0 RBM28 55131 broad.mit.edu 37 7 127961459 127961459 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:127961459G>C uc003vmp.2 - 14 1538 c.1423C>G c.(1423-1425)CAG>GAG p.Q475E RBM28_uc003vmo.2_Missense_Mutation_p.Q92E|RBM28_uc011koj.1_Missense_Mutation_p.Q334E NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 475 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 TTGAGTTTCTGATGCTTCAGC 0.433 NA 6 47 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536831 146536831 + Silent SNP C C T rs145162968 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:146536831C>T uc003weu.1 + 3 753 c.237C>T c.(235-237)AGC>AGT p.S79S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 79 F5/8 type C.|Extracellular (Potential). 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) CATCAGACAGCGACCATTATC 0.448 NA HNSCC(39;0.1) 11 54 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147869376 147869376 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr7:147869376C>T uc003weu.1 + 18 3332 c.2816C>T c.(2815-2817)TCC>TTC p.S939F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 939 Laminin G-like 3.|Extracellular (Potential). 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) TGCATCCGCTCCTTGAGGATG 0.542 NA HNSCC(39;0.1) 10 65 0 0 0 0 PIWIL2 55124 broad.mit.edu 37 8 22167484 22167484 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:22167484G>A uc003xbn.2 + 15 1845 c.1697G>A c.(1696-1698)CGT>CAT p.R566H PIWIL2_uc011kzf.1_Missense_Mutation_p.R566H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R566H NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 566 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ATTGAAGGACGTGTTCTGCCA 0.383 NA 6 49 0 0 0 0 PLAT 5327 broad.mit.edu 37 8 42038171 42038171 + Nonsense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:42038171G>A uc003xos.2 - 10 1131 c.922C>T c.(922-924)CAG>TAG p.Q308* PLAT_uc010lxf.1_Nonsense_Mutation_p.Q225*|PLAT_uc010lxg.1_Nonsense_Mutation_p.Q133*|PLAT_uc003xot.2_Nonsense_Mutation_p.Q262*|PLAT_uc011lcm.1_Nonsense_Mutation_p.Q219*|PLAT_uc011lcn.1_Nonsense_Mutation_p.Q182* NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 308 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATGCGAAACTGAGGCTGGCTG 0.632 NA 8 35 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48842538 48842538 + Nonsense_Mutation SNP C C A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:48842538C>A uc003xqi.2 - 18 1984 c.1927G>T c.(1927-1929)GAA>TAA p.E643* PRKDC_uc003xqj.2_Nonsense_Mutation_p.E643*|PRKDC_uc011ldh.1_Nonsense_Mutation_p.E643* NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 643 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACCCATGGTTCAAAAAATTCT 0.318 NA NHEJ 5 80 5.94e-07 6.49e-07 1 0 RGS20 8601 broad.mit.edu 37 8 54866838 54866838 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:54866838G>A uc003xrp.2 + 5 1038 c.946G>A c.(946-948)GAA>AAA p.E316K RGS20_uc003xrq.2_Missense_Mutation_p.E201K|RGS20_uc010lye.2_Missense_Mutation_p.E108K|RGS20_uc010lyf.2_Missense_Mutation_p.E80K|RGS20_uc003xrs.2_Missense_Mutation_p.E169K|RGS20_uc003xrt.2_Missense_Mutation_p.E50K NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 316 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GATAATCTATGAAGACTACAT 0.378 NA 6 47 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972554 92972554 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:92972554C>T uc003yfd.2 - 11 1815 c.1731G>A c.(1729-1731)GGG>GGA p.G577G RUNX1T1_uc003yfc.1_Silent_p.G550G|RUNX1T1_uc003yfe.1_Silent_p.G540G|RUNX1T1_uc010mao.2_Silent_p.G550G|RUNX1T1_uc011lgi.1_Silent_p.G588G|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.G202G|RUNX1T1_uc003yfb.1_Silent_p.G540G NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 577 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) CCATCGGGCTCCCAGCCCCGC 0.622 NA 8 39 0 0 0 0 HAS2 3037 broad.mit.edu 37 8 122626424 122626424 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:122626424C>T uc003yph.2 - 4 2122 c.1584G>A c.(1582-1584)ACG>ACA p.T528T NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 528 Helical; Name=7; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CTACATACAGCGTCAAAAGCA 0.408 NA 14 84 0 0 0 0 PUF60 22827 broad.mit.edu 37 8 144899260 144899260 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr8:144899260C>T uc003yzs.2 - 11 1264 c.1200G>A c.(1198-1200)GTG>GTA p.V400V SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.V340V|PUF60_uc003yzt.2_Silent_p.V383V|PUF60_uc003yzq.2_Silent_p.V357V|PUF60_uc003yzu.1_Silent_p.V389V NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 400 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) GGATGGGGTTCACCACTCCCA 0.622 NA 3 25 0 0 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921788 5921788 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:5921788G>C uc003zjq.3 - 8 4424 c.4208C>G c.(4207-4209)TCT>TGT p.S1403C KIAA2026_uc010mht.2_Missense_Mutation_p.S578C NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1403 Ser-rich. ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAGAGTACTAGAACAAATAGA 0.393 NA 15 92 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:21971028C>T uc003zpk.2 - 2 542 c.330G>A c.(328-330)TGG>TGA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 23 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35698089 35698089 + Missense_Mutation SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:35698089C>G uc003zxt.2 - 56 7806 c.7452G>C c.(7450-7452)GAG>GAC p.E2484D NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 2484 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGTCTCATTCTCCTGCTCTT 0.562 NA 15 93 0 0 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422154 115422154 + Silent SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:115422154C>T uc004bgf.1 + 4 2131 c.1956C>T c.(1954-1956)TTC>TTT p.F652F KIAA1958_uc011lwx.1_Silent_p.F680F NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 652 skin(1) 1 AGTCCCCCTTCTACCTGACTG 0.577 NA 6 35 0 0 0 0 LCN6 158062 broad.mit.edu 37 9 139639631 139639631 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr9:139639631C>T uc004ciy.2 - 4 448 c.403G>A c.(403-405)GAG>AAG p.E135K LCN10_uc004civ.2_5'Flank|LCN10_uc011med.1_5'Flank|LCN10_uc010nbq.2_5'Flank|LCN10_uc011mee.1_5'Flank|LCN10_uc011mef.1_5'Flank|LCN10_uc004ciw.2_RNA|uc004ciz.1_5'Flank NM_198946 NP_945184 P62502 LCN6_HUMAN lipocalin 6 precursor 135 single fertilization extracellular region binding 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CTGTACAGCTCCACGGTGTTG 0.627 NA 10 51 0 0 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999311 27999311 + Silent SNP C C G TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:27999311C>G uc004dbx.1 - 1 256 c.141G>C c.(139-141)TCG>TCC p.S47S NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 47 ovary(3)|skin(1) 4 CATCTCCGGTCGATGGCTCTG 0.532 NA 9 28 0 0 0 0 XK 7504 broad.mit.edu 37 X 37587032 37587032 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:37587032G>C uc004ddq.2 + 3 734 c.652G>C c.(652-654)GAG>CAG p.E218Q NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 218 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) GAGGAGCTTTGAGATTGCCAC 0.458 NA 8 17 0 0 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377069 50377069 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377069G>A uc004dpe.2 - 4 2030 c.2004C>T c.(2002-2004)CTC>CTT p.L668L SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.L552L NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 668 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GGGCTTGGCTGAGGCACTCGG 0.527 NA 7 15 0 0 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377082 50377082 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377082G>A uc004dpe.2 - 4 2017 c.1991C>T c.(1990-1992)TCT>TTT p.S664F SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.S548F NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 664 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GCACTCGGAAGACCTAGCTCT 0.532 NA 9 17 0 0 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377856 50377856 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:50377856G>C uc004dpe.2 - 4 1243 c.1217C>G c.(1216-1218)ACA>AGA p.T406R SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.T290R NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 406 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GCGATGCCCTGTGGGTCCTAT 0.567 NA 5 11 0 0 0 0 ATP7A 538 broad.mit.edu 37 X 77243873 77243873 + Missense_Mutation SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:77243873G>A uc004ecx.3 + 3 416 c.256G>A c.(256-258)GAC>AAC p.D86N ATP7A_uc004ecw.2_Missense_Mutation_p.D86N NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 86 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TGTTTTAACTGACACCTTGTT 0.443 NA 72 166 0 0 0 0 MID2 11043 broad.mit.edu 37 X 107169397 107169397 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:107169397G>A uc004enl.2 + 9 2244 c.1671G>A c.(1669-1671)GAG>GAA p.E557E MID2_uc004enk.2_Silent_p.E527E NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 557 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TGCAGATGGAGAAGGATGAAA 0.423 NA 19 51 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 148059934 148059934 + Silent SNP G G A TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:148059934G>A uc004fcp.2 + 18 3998 c.3519G>A c.(3517-3519)CTG>CTA p.L1173L AFF2_uc004fcq.2_Silent_p.L1163L|AFF2_uc004fcr.2_Silent_p.L1134L|AFF2_uc011mxb.1_Silent_p.L1138L|AFF2_uc004fcs.2_Silent_p.L1138L|AFF2_uc011mxc.1_Silent_p.L814L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1173 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGTTTAAGCTGAAGAAGGACC 0.348 NA 10 43 0 0 0 0 FAM3A 60343 broad.mit.edu 37 X 153735753 153735753 + Missense_Mutation SNP C C T TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chrX:153735753C>T uc004fls.1 - 7 731 c.454G>A c.(454-456)GAC>AAC p.D152N FAM3A_uc004flt.1_Missense_Mutation_p.D166N|FAM3A_uc011mzp.1_Missense_Mutation_p.D135N|FAM3A_uc004flu.1_Missense_Mutation_p.D149N|FAM3A_uc011mzq.1_Missense_Mutation_p.D152N|FAM3A_uc004flw.1_Missense_Mutation_p.D152N NM_021806 NP_068578 P98173 FAM3A_HUMAN family 3, member A protein precursor 152 extracellular region large_intestine(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGGGTCGTCGTAGGATGCC 0.602 NA 8 16 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367753 145367753 + Frame_Shift_Del DEL G G - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr1:145367753delG uc001end.3 + 85 10609 c.10574delG c.(10573-10575)AGAfs p.R3525fs NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3450 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) agaaggggaagaagatcaaag 0.244 NA 13 102 --- --- --- --- NA NA NA NA MTPAP 55149 broad.mit.edu 37 10 30653930 30653932 + In_Frame_Del DEL TCC TCC - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr10:30653930_30653932delTCC uc001ivb.3 - 9 1622_1624 c.250_252delGGA c.(250-252)GGAdel p.G84del LOC729668_uc001ivd.2_RNA|uc001ive.1_RNA|uc001ivg.1_5'Flank NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor Error:Variant_position_missing_in_Q9NVV4_after_alignment cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 CCTGATGATGTCCTCCTCCTCCT 0.507 NA 7 28 --- --- --- --- NA NA NA NA TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr12:113704096_113704098delCTG uc001tuw.2 + 4 646_648 c.349_351delCTG c.(349-351)CTGdel p.L122del TPCN1_uc001tux.2_In_Frame_Del_p.L194del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 122 Helical; Name=S1 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 GGCCACGGCCCTGCTGCTGCTGC 0.64 NA 7 552 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578217 7578218 + Frame_Shift_Del DEL GT GT - TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dac99486-00bc-41ad-92b4-8bed1a28b122 def25278-359f-4d7f-8a33-48f56f668541 g.chr17:7578217_7578218delGT uc002gim.2 - 6 825_826 c.631_632delAC c.(631-633)ACTfs p.T211fs TP53_uc002gig.1_Frame_Shift_Del_p.T211fs|TP53_uc002gih.2_Frame_Shift_Del_p.T211fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.T79fs|TP53_uc010cng.1_Frame_Shift_Del_p.T79fs|TP53_uc002gii.1_Frame_Shift_Del_p.T79fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T211fs|TP53_uc010cni.1_Frame_Shift_Del_p.T211fs|TP53_uc002gij.2_Frame_Shift_Del_p.T211fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.T118fs|TP53_uc002gio.2_Frame_Shift_Del_p.T79fs|TP53_uc010vug.1_Frame_Shift_Del_p.T172fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 211 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; 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.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.T211A(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.T211_F212insX(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(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) ATGTCGAAAAGTGTTTCTGTCA 0.535 111 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) 12 29 --- --- --- --- NA NA NA NA