Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut Unknown 0 broad.mit.edu 37 1 1854900 1854900 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:1854900A>C uc001aik.2 - 8 1276 c.426T>G c.(424-426)TGT>TGG p.C142W uc001ail.2_Missense_Mutation_p.C142W RecName: Full=Uncharacterized protein C1orf222; NA TCATGTGCTGACAGGCGGCAC 0.627 NA 7 9 0 0 0.004482 0 0 MEGF6 1953 broad.mit.edu 37 1 3511967 3511967 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:3511967G>T uc001akl.2 - 3 538 c.311C>A c.(310-312)GCC>GAC p.A104D NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 104 EMI. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CACGGTCCGGGCCTCCGTGGT 0.642 Ovarian(73;978 3658) NA 13 25 0.00498961 0.00533343 0.00499 1 0 AJAP1 55966 broad.mit.edu 37 1 4829965 4829965 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:4829965A>T uc001alm.1 + 3 1263 c.882A>T c.(880-882)ATA>ATT p.I294I AJAP1_uc001aln.2_Silent_p.I294I NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 294 Helical; Signal-anchor for type III membrane protein; (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TCATGGTCATAGCTGCTCTCA 0.527 NA 17 79 0 0 0.007413 0 0 H6PD 9563 broad.mit.edu 37 1 9324728 9324728 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:9324728C>G uc001apt.2 + 5 2449 c.2176C>G c.(2176-2178)CAC>GAC p.H726D NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 726 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTCCCAGCCACACCGCCGCAT 0.647 NA 6 10 0 0 0.003163 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16057111 16057111 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:16057111T>A uc010obo.1 + 15 2520 c.2293T>A c.(2293-2295)TGC>AGC p.C765S NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 765 Interaction with sifA. Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCCCTGCCACTGCTCACCCCC 0.652 NA 3 3 0 0 0.004672 0 0 NBPF1 55672 broad.mit.edu 37 1 16892237 16892237 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:16892237A>C uc009vos.1 - 28 4068 c.3180T>G c.(3178-3180)TGT>TGG p.C1060W uc001ayw.2_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 1060 NBPF 7. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGTTGAATAACATCTATCCA 0.473 NA 9 876 0 0 0.004482 0 0 TMCO4 255104 broad.mit.edu 37 1 20082238 20082238 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:20082238C>T uc001bcn.2 - 7 646 c.404G>A c.(403-405)AGA>AAA p.R135K TMCO4_uc001bcm.2_Missense_Mutation_p.R135K|TMCO4_uc001bco.1_Missense_Mutation_p.R135K|TMCO4_uc001bcp.1_Missense_Mutation_p.R135K|TMCO4_uc009vpn.1_Missense_Mutation_p.R135K|TMCO4_uc001bcq.1_Missense_Mutation_p.R135K NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 135 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AACGAGGACTCTGGCCCGGGC 0.478 NA 22 59 0 0 0.002299 0 0 OTUD3 23252 broad.mit.edu 37 1 20216956 20216956 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:20216956G>T uc001bcs.3 + 2 419 c.300G>T c.(298-300)GTG>GTT p.V100V NM_015207 NP_056022 Q5T2D3 OTUD3_HUMAN OTU domain containing 3 100 OTU. 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGACAGTGGACTACATGA 0.443 NA 37 72 4.11147e-13 6.21116e-13 0.003755 1 0 IL22RA1 58985 broad.mit.edu 37 1 24463712 24463712 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:24463712G>A uc001biq.1 - 3 303 c.264C>T c.(262-264)CTC>CTT p.L88L IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Silent_p.L88L NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 88 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) AGAGCTCCGTGAGGTTGCCCG 0.612 NA 7 35 0 0 0.00308 0 0 RHCE 6006 broad.mit.edu 37 1 25717390 25717390 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:25717390C>A uc001bkf.2 - 5 737 c.651G>T c.(649-651)TGG>TGT p.W217C RHCE_uc001bkg.2_Missense_Mutation_p.W217C|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.W201C NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 217 Helical; (Potential). W -> R (in Ref. 13; ACK75569). integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GCCAGAACATCCACAAGAAGA 0.527 NA 17 93 9.16793e-09 1.21223e-08 0.00499 1 0 AHDC1 27245 broad.mit.edu 37 1 27877205 27877205 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:27877205C>A uc009vsy.2 - 6 2391 c.1422G>T c.(1420-1422)ATG>ATT p.M474I AHDC1_uc009vsz.1_Missense_Mutation_p.M474I NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 474 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCTTCACCACCATGCGCCGCA 0.627 NA 11 12 3.03607e-14 4.74433e-14 0.001368 1 0 ZSCAN20 7579 broad.mit.edu 37 1 33945125 33945126 + Missense_Mutation DNP GG GG TT TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:33945125_33945126GG>TT uc001bxj.3 + 2 403_404 c.236_237GG>TT c.(235-237)TGG>TTT p.W79F ZSCAN20_uc001bxk.2_Missense_Mutation_p.W79F|ZSCAN20_uc009vui.2_Missense_Mutation_p.W79F NM_145238 NP_660281 P17040 ZSC20_HUMAN zinc finger protein 31 79 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGCTGTCGTTGGCTGAGGCCGG 0.624 NA 6 29 0 0 0.004672 0 0 MACF1 23499 broad.mit.edu 37 1 39893130 39893130 + Silent SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:39893130A>G uc010oiu.1 + 26 11771 c.11640A>G c.(11638-11640)CAA>CAG p.Q3880Q MACF1_uc010ois.1_Silent_p.Q3378Q|MACF1_uc001cda.1_Silent_p.Q3265Q|MACF1_uc001cdc.1_Silent_p.Q2444Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5445 Spectrin 7. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTGTAGGCAAAAACAGCTGG 0.383 NA 26 58 0 0 0.007291 0 0 YBX1 4904 broad.mit.edu 37 1 43162350 43162350 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:43162350T>C uc001chs.2 + 5 563 c.392T>C c.(391-393)GTT>GCT p.V131A NM_004559 NP_004550 P67809 YBOX1_HUMAN nuclease sensitive element binding protein 1 131 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(4)|upper_aerodigestive_tract(1) 5 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGGTGGTGTTCCAGTTCAA 0.438 NA 22 26 0 0 0.002299 0 0 YBX1 4904 broad.mit.edu 37 1 43166670 43166670 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:43166670A>T uc001chs.2 + 7 1130 c.959A>T c.(958-960)CAG>CTG p.Q320L NM_004559 NP_004550 P67809 YBOX1_HUMAN nuclease sensitive element binding protein 1 320 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(4)|upper_aerodigestive_tract(1) 5 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGCTGAGCAGGGCGGGGCT 0.547 NA 15 20 0 0 0.006122 0 0 KIAA0467 23334 broad.mit.edu 37 1 43870102 43870102 + Missense_Mutation SNP C C T rs34426631 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:43870102C>T uc009vws.1 + 4 463 c.379C>T c.(379-381)CGC>TGC p.R127C C1orf84_uc001cjh.2_Missense_Mutation_p.R125C|C1orf84_uc001cji.1_RNA Q5T011 SZT2_HUMAN Homo sapiens mRNA for KIAA0467 protein, partial cds. 127 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCCCTGTCCCGCTGCTTAGG 0.547 NA 11 55 0 0 0.000978 0 0 STIL 6491 broad.mit.edu 37 1 47746154 47746154 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:47746154G>A uc001crc.1 - 12 2131 c.1976C>T c.(1975-1977)TCA>TTA p.S659L TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S612L|STIL_uc010omo.1_Missense_Mutation_p.S659L|STIL_uc001crd.1_Missense_Mutation_p.S659L|STIL_uc001cre.1_Missense_Mutation_p.S659L|STIL_uc001crf.1_Missense_Mutation_p.S272L|STIL_uc001crg.1_Missense_Mutation_p.S612L NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 659 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) AGGACTACTTGAAGAACAGAA 0.468 NA 5 79 0 0 0.000602 0 0 SPATA6 54558 broad.mit.edu 37 1 48918776 48918776 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:48918776C>G uc001crr.1 - 2 244 c.79G>C c.(79-81)GAC>CAC p.D27H SPATA6_uc001crs.1_Missense_Mutation_p.D27H|SPATA6_uc010omv.1_Missense_Mutation_p.D27H|SPATA6_uc001crt.2_5'UTR NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 27 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 TCCTCTTTGTCTTTAAGCACG 0.388 NA 9 51 0 0 0.006214 0 0 CC2D1B 200014 broad.mit.edu 37 1 52819274 52819274 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:52819274C>A uc001ctq.1 - 24 2632 c.2494G>T c.(2494-2496)GTG>TTG p.V832L CC2D1B_uc001ctr.2_Missense_Mutation_p.V372L|CC2D1B_uc001cts.2_Splice_Site_p.K516_splice NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 832 ovary(2) 2 CGCAGCCTCACCTTCACCTCC 0.612 NA 7 10 0.000274275 0.000309838 0.004482 1 0 FOXD3 27022 broad.mit.edu 37 1 63789229 63789229 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:63789229T>A uc001dax.2 + 1 500 c.500T>A c.(499-501)ATC>AAC p.I167N NM_012183 NP_036315 Q9UJU5 FOXD3_HUMAN forkhead box D3 167 Fork-head. axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CTGAGCGGCATCTGCGAGTTC 0.582 Pancreas(68;276 1750 11966 31252) NA 4 75 0 0 0.009096 0 0 CACHD1 57685 broad.mit.edu 37 1 65098382 65098382 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:65098382G>C uc001dbo.1 + 6 697 c.592G>C c.(592-594)GAC>CAC p.D198H CACHD1_uc001dbp.1_Intron|CACHD1_uc001dbq.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 249 Extracellular (Potential).|VWFA. calcium ion transport integral to membrane ovary(2) 2 GATTGCCAAGGACGCTGCTCA 0.522 NA 20 24 0 0 0.001882 0 0 JAK1 3716 broad.mit.edu 37 1 65323453 65323453 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:65323453G>A uc001dbu.1 - 10 1593 c.1344C>T c.(1342-1344)TAC>TAT p.Y448Y JAK1_uc009wam.1_Silent_p.Y436Y NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 448 SH2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TATTGATGGCGTATTCTGTAC 0.517 NA Mis ALL 6 24 0 0 0.001984 0 0 SGIP1 84251 broad.mit.edu 37 1 67155937 67155937 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:67155937C>A uc001dcr.2 + 17 1725 c.1508C>A c.(1507-1509)GCT>GAT p.A503D SGIP1_uc010opd.1_Missense_Mutation_p.A103D|SGIP1_uc001dcs.2_Missense_Mutation_p.A103D|SGIP1_uc001dct.2_Missense_Mutation_p.A103D|SGIP1_uc009wat.2_Missense_Mutation_p.A297D NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 503 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TTAGCGCGGGCTGAAAGCACT 0.458 NA 23 91 1.66031e-10 2.34136e-10 0.003954 1 0 LRRC7 57554 broad.mit.edu 37 1 70452024 70452024 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:70452024C>A uc001dep.2 + 8 802 c.772C>A c.(772-774)CTC>ATC p.L258I LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 258 LRR 11. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCTTGAGGACCTCTTATTGTC 0.328 NA 3 35 0.00909568 0.00960939 0.009096 1 0 LRRC40 55631 broad.mit.edu 37 1 70618156 70618156 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:70618156C>A uc001der.1 - 12 1451 c.1399G>T c.(1399-1401)GAG>TAG p.E467* NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 467 LRR 15. ovary(1) 1 ACACATAACTCCAAGGATATA 0.289 NA 14 19 9.16793e-09 1.21223e-08 0.00499 1 0 COL24A1 255631 broad.mit.edu 37 1 86590978 86590978 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:86590978G>A uc001dlj.2 - 3 1083 c.1041C>T c.(1039-1041)TTC>TTT p.F347F COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.F347F NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 347 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGACAGGCTGAAATTTGTCT 0.413 NA 16 67 0 0 0.00499 0 0 GBP5 115362 broad.mit.edu 37 1 89730567 89730567 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:89730567C>G uc001dnc.2 - 8 1488 c.951G>C c.(949-951)TTG>TTC p.L317F GBP5_uc001dnd.2_Missense_Mutation_p.L317F|GBP5_uc001dne.1_Missense_Mutation_p.L317F NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 317 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CTCTCTGAGCCAAGGCCAGGA 0.522 NA 28 33 0 0 0.004656 0 0 EPHX4 253152 broad.mit.edu 37 1 92511171 92511171 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:92511171G>T uc001don.2 + 4 662 c.558G>T c.(556-558)GTG>GTT p.V186V NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 186 integral to membrane hydrolase activity central_nervous_system(1) 1 CTGAAATGGTGATGAAGCTTA 0.373 GBM(140;473 1857 5172 22066 49719) NA 33 50 2.47316e-13 3.77275e-13 0.003271 1 0 KIAA1324 57535 broad.mit.edu 37 1 109737059 109737059 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:109737059A>G uc001dwq.2 + 16 2100 c.1964A>G c.(1963-1965)TAC>TGC p.Y655C KIAA1324_uc009wex.1_Missense_Mutation_p.Y605C|KIAA1324_uc009wey.2_Missense_Mutation_p.Y568C|KIAA1324_uc010ovg.1_Missense_Mutation_p.Y553C|KIAA1324_uc001dwr.2_Missense_Mutation_p.Y305C NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 655 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) TCTCTGTGCTACAACGATTGC 0.577 NA 3 29 0 0 0.001168 0 0 GPR61 83873 broad.mit.edu 37 1 110086428 110086428 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:110086428C>G uc001dxy.2 + 2 1467 c.784C>G c.(784-786)CGC>GGC p.R262G NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 262 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TCTCAGCAGCCGCTCCACGAT 0.682 NA 21 76 0 0 0.001882 0 0 TRIM33 51592 broad.mit.edu 37 1 114969832 114969832 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:114969832G>A uc001eew.2 - 8 1471 c.1387C>T c.(1387-1389)CCC>TCC p.P463S TRIM33_uc010owr.1_Missense_Mutation_p.P71S|TRIM33_uc010ows.1_Missense_Mutation_p.P71S|TRIM33_uc001eex.2_Missense_Mutation_p.P463S NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 463 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGAAGGTGGGATCACAATGG 0.368 NA T RET papillary thyroid 13 51 0 0 0.001855 0 0 IGSF3 3321 broad.mit.edu 37 1 117122093 117122093 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:117122093C>A uc001egr.1 - 10 3960 c.3255G>T c.(3253-3255)TGG>TGT p.W1085C IGSF3_uc001egq.1_Missense_Mutation_p.W1105C NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 1085 Ig-like C2-type 8.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGCTGGGCAGCCACTCCTCCA 0.592 NA 17 29 1.5739e-10 2.24439e-10 0.004007 1 0 VTCN1 79679 broad.mit.edu 37 1 117699283 117699283 + Missense_Mutation SNP C C T rs144508898 by1000genomes TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:117699283C>T uc001ehb.2 - 3 430 c.358G>A c.(358-360)GTG>ATG p.V120M VTCN1_uc001ehc.2_Missense_Mutation_p.V25M|VTCN1_uc009whf.1_Intron NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation 120 Ig-like V-type 1.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) GTGAGTTGCACGTTTTTCAGC 0.448 NA 6 54 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145303954 145303954 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:145303954G>A uc001end.3 + 9 1386 c.1351G>A c.(1351-1353)GAG>AAG p.E451K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Missense_Mutation_p.E382K|NBPF9_uc010oyg.1_Missense_Mutation_p.E416K|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.E180K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 396 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGAGGTGGCTGAGAAAGTGCA 0.433 NA 7 300 0 0 0.00308 0 0 NBPF10 100132406 broad.mit.edu 37 1 145304535 145304535 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:145304535G>C uc001end.3 + 10 1503 c.1468G>C c.(1468-1470)GAC>CAC p.D490H NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Missense_Mutation_p.D421H|NBPF9_uc010oyg.1_Missense_Mutation_p.D455H|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Missense_Mutation_p.D29H|NBPF10_uc001emq.1_Missense_Mutation_p.D219H NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGCTCTTATGACTCCAACCA 0.468 NA 6 421 0 0 0.001984 0 0 PDIA3P 171423 broad.mit.edu 37 1 146650133 146650133 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:146650133A>C uc001epg.1 + 1 704 c.441A>C c.(439-441)AAA>AAC p.K147N NR_002305 SubName: Full=cDNA FLJ53558, highly similar to Protein disulfide-isomerase A3 (EC 5.3.4.1); 0 AATTTAAGAAATTCATTAGTG 0.448 NA 34 53 0 0 0.002836 0 0 SV2A 9900 broad.mit.edu 37 1 149879341 149879341 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:149879341A>G uc001etg.2 - 10 2080 c.1589T>C c.(1588-1590)CTG>CCG p.L530P SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.L530P NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 530 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTCTTCAAACAGGGAATCCTC 0.502 NA 19 49 0 0 0.008871 0 0 SV2A 9900 broad.mit.edu 37 1 149884838 149884838 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:149884838C>T uc001etg.2 - 2 1046 c.555G>A c.(553-555)GTG>GTA p.V185V SV2A_uc001eth.2_Silent_p.V185V NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 185 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CGAAGCCCACCACAAAGACCT 0.582 NA 20 73 0 0 0.010504 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529802 150529802 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:150529802T>C uc001eux.2 + 12 2274 c.2038T>C c.(2038-2040)TGC>CGC p.C680R ADAMTSL4_uc001euw.2_Missense_Mutation_p.C680R|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.C703R|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.C641R|ADAMTSL4_uc009wlx.2_5'Flank NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 680 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTCAGCGTCCTGCGGGAAAGG 0.657 NA 4 9 0 0 0.000602 0 0 THEM5 284486 broad.mit.edu 37 1 151824854 151824854 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:151824854G>T uc009wnd.2 - 2 337 c.205C>A c.(205-207)CTG>ATG p.L69M NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 69 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTTGGTACAGGCTCAGCATG 0.502 NA 31 85 2.61193e-14 4.0916e-14 0.009535 1 0 FLG 2312 broad.mit.edu 37 1 152277046 152277046 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:152277046C>A uc001ezu.1 - 3 10352 c.10316G>T c.(10315-10317)GGG>GTG p.G3439V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3439 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) TCTGCTTGACCCCGGGTGTCC 0.597 NA Ichthyosis 111 230 4.36517e-90 8.36219e-90 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152327656 152327656 + Missense_Mutation SNP G G T rs34309186 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:152327656G>T uc001ezw.3 - 3 2679 c.2606C>A c.(2605-2607)TCT>TAT p.S869Y uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 869 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAAAGCCAGATGTCTGTCC 0.498 NA 139 74 1.04606e-72 1.99788e-72 0.00361 1 0 KPRP 448834 broad.mit.edu 37 1 152732371 152732371 + Nonsense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:152732371C>T uc001fal.1 + 2 365 c.307C>T c.(307-309)CAA>TAA p.Q103* NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 103 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCCAATCTCAAACTTCCTC 0.537 NA 6 242 0 0 0.001168 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153283102 153283102 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:153283102C>A uc001fbn.1 - 1 93 c.40G>T c.(40-42)GGT>TGT p.G14C NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 precursor 14 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCTGGAGACCCAGAATGAAG 0.502 NA 44 101 1.86633e-21 3.3249e-21 0.00361 1 0 NPR1 4881 broad.mit.edu 37 1 153660630 153660630 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:153660630T>C uc001fcs.3 + 15 2771 c.2350T>C c.(2350-2352)TGG>CGG p.W784R NPR1_uc010pdz.1_Missense_Mutation_p.W530R|NPR1_uc010pea.1_Missense_Mutation_p.W262R NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 784 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCAGCGGTGCTGGGCTGAGGA 0.642 Pancreas(141;1349 1870 15144 15830 40702) NA 33 61 0 0 0.003271 0 0 CRTC2 200186 broad.mit.edu 37 1 153920685 153920685 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:153920685T>A uc010ped.1 - 14 2052 c.1982A>T c.(1981-1983)GAG>GTG p.E661V DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.E197V NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 661 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCAGTGGCTCCATGCGCAG 0.597 NA 31 74 0 0 0.009535 0 0 ADAM15 8751 broad.mit.edu 37 1 155030752 155030752 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:155030752G>A uc001fgr.1 + 15 1853 c.1752G>A c.(1750-1752)CAG>CAA p.Q584Q ADAM15_uc001fgq.1_Silent_p.Q269Q|ADAM15_uc010pet.1_Silent_p.Q568Q|ADAM15_uc010peu.1_Silent_p.Q601Q|ADAM15_uc001fgt.1_Silent_p.Q584Q|ADAM15_uc010pev.1_Silent_p.Q594Q|ADAM15_uc001fgs.1_Silent_p.Q584Q|ADAM15_uc001fgu.1_Silent_p.Q584Q|ADAM15_uc001fgw.1_Silent_p.Q584Q|ADAM15_uc001fgv.1_Silent_p.Q584Q|ADAM15_uc001fgx.1_Silent_p.Q584Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 584 Extracellular (Potential).|Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCCAGTGCCAGACAGGTAGGA 0.587 NA 6 42 0 0 0.00308 0 0 MUC1 4582 broad.mit.edu 37 1 155160273 155160273 + Missense_Mutation SNP C C A rs144273480 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:155160273C>A uc010pfj.1 - 4 1037 c.631G>T c.(631-633)GAC>TAC p.D211Y RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Missense_Mutation_p.D41Y|MUC1_uc001fhz.2_Missense_Mutation_p.D41Y|MUC1_uc010pfb.1_Missense_Mutation_p.D41Y|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_Missense_Mutation_p.D41Y|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_RNA|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Missense_Mutation_p.D41Y|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Missense_Mutation_p.D187Y|MUC1_uc010pfi.1_Missense_Mutation_p.D187Y|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Missense_Mutation_p.D63Y|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Missense_Mutation_p.D72Y|MUC1_uc009wpo.2_Missense_Mutation_p.D78Y|MUC1_uc009wps.2_Missense_Mutation_p.D99Y|MUC1_uc009wpt.2_Missense_Mutation_p.D102Y|MUC1_uc001fic.2_Missense_Mutation_p.D90Y|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Missense_Mutation_p.D104Y|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Missense_Mutation_p.D100Y|MUC1_uc001fid.2_Missense_Mutation_p.D91Y|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Missense_Mutation_p.D125Y|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Missense_Mutation_p.D41Y|MUC1_uc001fiq.2_Missense_Mutation_p.D41Y|MUC1_uc009wpz.2_Missense_Mutation_p.D143Y|MUC1_uc010pfn.1_Missense_Mutation_p.D116Y|MUC1_uc009wqa.2_Missense_Mutation_p.D199Y|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Missense_Mutation_p.D116Y|MUC1_uc009wqc.2_Missense_Mutation_p.D113Y|MUC1_uc009wqd.2_Missense_Mutation_p.D137Y|MUC1_uc009wqb.2_Missense_Mutation_p.D41Y|MUC1_uc010pfq.1_Missense_Mutation_p.D113Y|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Missense_Mutation_p.D41Y|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Missense_Mutation_p.D134Y|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Missense_Mutation_p.D134Y|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Missense_Mutation_p.D125Y|MUC1_uc001fis.1_Intron P15941 MUC1_HUMAN SubName: Full=Mucin 1, cell surface associated; 1116 Extracellular (Potential).|SEA. D->A: Greatly reduced formation of isoform 5/isoform 7 complex.|D->E: No effect on formation of isoform 5/isoform 7 complex. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTCTCCACGTCGTGGACATTG 0.542 NA T IGH@ B-NHL 8 20 0.000157383 0.000180353 0.00308 1 0 CD5L 922 broad.mit.edu 37 1 157805829 157805829 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:157805829C>A uc001frk.3 - 3 315 c.172G>T c.(172-174)GTG>TTG p.V58L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 58 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AACACAGCCACGTCCTTAATG 0.607 NA 52 109 6.4308e-24 1.17192e-23 0.00361 1 0 OR10Z1 128368 broad.mit.edu 37 1 158577102 158577102 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:158577102C>A uc010pio.1 + 1 874 c.874C>A c.(874-876)CTA>ATA p.L292I NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGTTTATAGTCTAAGGAATAG 0.463 NA 101 167 2.54621e-43 4.79109e-43 0.00361 1 0 IFI16 3428 broad.mit.edu 37 1 159021489 159021490 + Nonsense_Mutation DNP TG TG CT TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:159021489_159021490TG>CT uc001ftg.2 + 9 1808_1809 c.1518_1519TG>CT c.(1516-1521)ACTGAA>ACCTAA p.E507* IFI16_uc010pis.1_Nonsense_Mutation_p.E507*|IFI16_uc001fth.2_Nonsense_Mutation_p.E50*|IFI16_uc010pit.1_Nonsense_Mutation_p.E106* NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GACTGAAGACTGAACCTGAAGA 0.426 NA 26 45 0 0 0.004672 0 0 OR10J5 127385 broad.mit.edu 37 1 159505015 159505015 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:159505015C>T uc010piw.1 - 1 783 c.783G>A c.(781-783)CCG>CCA p.P261P NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) TTTCTGACTTCGGCTTGAGGT 0.502 NA 3 68 0 0 0.009096 0 0 ATP1A4 480 broad.mit.edu 37 1 160137163 160137163 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:160137163G>C uc001fve.3 + 10 1931 c.1452G>C c.(1450-1452)AAG>AAC p.K484N ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 484 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAAACCCCAAGGTGGCAGAGA 0.522 NA 37 81 0 0 0.004289 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954010 161954010 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:161954010C>A uc001gbu.2 - 8 2132 c.1708G>T c.(1708-1710)GTA>TTA p.V570L OLFML2B_uc001gbt.2_Missense_Mutation_p.V53L|OLFML2B_uc010pkq.1_Missense_Mutation_p.V571L NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 570 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCATTGTATACCACGTGGCCT 0.577 NA 17 51 2.37509e-13 3.6399e-13 0.010504 1 0 NUF2 83540 broad.mit.edu 37 1 163313600 163313600 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:163313600G>C uc001gcq.1 + 10 1047 c.747G>C c.(745-747)GAG>GAC p.E249D NUF2_uc001gcp.2_Missense_Mutation_p.E249D|NUF2_uc001gcr.1_Missense_Mutation_p.E249D|NUF2_uc009wvc.1_Missense_Mutation_p.E249D NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 249 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) ATTCTCCAGAGAAGTTAAAGA 0.274 NA 10 34 0 0 0.000978 0 0 SELP 6403 broad.mit.edu 37 1 169581604 169581604 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:169581604C>T uc001ggi.3 - 6 877 c.812G>A c.(811-813)GGA>GAA p.G271E SELP_uc001ggh.2_Missense_Mutation_p.G106E|SELP_uc009wvr.2_Missense_Mutation_p.G271E NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 271 Extracellular (Potential).|Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGTCATGTTTCCTCGTTCAGG 0.478 NA 17 42 0 0 0.00499 0 0 TNFSF4 7292 broad.mit.edu 37 1 173176276 173176276 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:173176276C>A uc001giw.2 - 1 196 c.40G>T c.(40-42)GCA>TCA p.A14S TNFSF4_uc001giv.2_5'Flank NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 14 Cytoplasmic (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 GGCCTGGCTGCATTTCCCACA 0.507 NA 16 43 2.23348e-06 2.71087e-06 0.004007 1 0 PAPPA2 60676 broad.mit.edu 37 1 176564445 176564445 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:176564445G>A uc001gkz.2 + 3 2869 c.1705G>A c.(1705-1707)GTC>ATC p.V569I PAPPA2_uc001gky.1_Missense_Mutation_p.V569I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 569 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCAGCTGAGCGTCCACCAGGT 0.567 NA 23 53 0 0 0.001882 0 0 C1orf125 126859 broad.mit.edu 37 1 179347807 179347807 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:179347807A>T uc001gmo.2 + 5 537 c.410A>T c.(409-411)AAA>ATA p.K137I C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K137I NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 137 0 ACATATGCCAAAGGACAGACT 0.368 NA 30 52 0 0 0.00632 0 0 CFH 3075 broad.mit.edu 37 1 196642292 196642292 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:196642292G>T uc001gtj.3 + 2 483 c.243G>T c.(241-243)CAG>CAT p.Q81H CFH_uc001gti.3_Missense_Mutation_p.Q81H|CFH_uc009wyw.2_Missense_Mutation_p.Q81H|CFH_uc009wyx.2_Missense_Mutation_p.Q81H NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 81 Sushi 1. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGAAATGTCAGAGTAAGTACT 0.318 NA 17 62 7.81268e-19 1.33572e-18 0.00499 1 0 ATP2B4 493 broad.mit.edu 37 1 203669926 203669926 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:203669926G>T uc001gzw.2 + 6 1660 c.776G>T c.(775-777)GGG>GTG p.G259V ATP2B4_uc001gzv.2_Missense_Mutation_p.G259V|ATP2B4_uc009xaq.2_Missense_Mutation_p.G259V NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 259 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCCCGTGTAGGGACCCATGTC 0.453 NA 7 40 0.00198382 0.00216046 0.001984 1 0 USH2A 7399 broad.mit.edu 37 1 215848721 215848721 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:215848721G>C uc001hku.1 - 63 12919 c.12532C>G c.(12532-12534)CCT>GCT p.P4178A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4178 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGTTAACAGGCTCAGACCAG 0.507 NA HNSCC(13;0.011) 8 38 0 0 0.00308 0 0 TGFB2 7042 broad.mit.edu 37 1 218610720 218610720 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:218610720A>G uc001hlm.2 + 6 1621 c.968A>G c.(967-969)TAC>TGC p.Y323C TGFB2_uc001hln.2_Missense_Mutation_p.Y351C|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 323 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CGTCCACTTTACATTGATTTC 0.408 NA 24 58 0 0 0.003954 0 0 C1orf198 84886 broad.mit.edu 37 1 230979457 230979457 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:230979457G>C uc001hub.2 - 3 614 c.570C>G c.(568-570)TTC>TTG p.F190L C1orf198_uc009xfh.1_Missense_Mutation_p.F60L|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.F152L NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 190 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TGATCTTCCAGAATGACGCTT 0.637 NA 5 98 0 0 0.000602 0 0 LYST 1130 broad.mit.edu 37 1 235969372 235969372 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:235969372G>T uc001hxj.2 - 6 3239 c.3064C>A c.(3064-3066)CAG>AAG p.Q1022K LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.Q1022K NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1022 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTAAATCCTGGTTTTCATTT 0.338 NA Chediak-Higashsyndrome 34 69 1.62565e-12 2.43273e-12 0.002445 1 0 HEATR1 55127 broad.mit.edu 37 1 236727849 236727849 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:236727849C>T uc001hyd.1 - 32 4673 c.4548G>A c.(4546-4548)TTG>TTA p.L1516L HEATR1_uc009xgh.1_Silent_p.L678L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1516 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGACACTGACAAAAATTTAA 0.348 NA 22 42 0 0 0.002299 0 0 RYR2 6262 broad.mit.edu 37 1 237608780 237608780 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:237608780G>C uc001hyl.1 + 14 1370 c.1250G>C c.(1249-1251)CGA>CCA p.R417P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 417 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGCACAGCCCGAGTTATCCGG 0.383 NA 13 49 0 0 0.001368 0 0 NLRP3 114548 broad.mit.edu 37 1 247587436 247587436 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:247587436G>A uc001icr.2 + 5 829 c.691G>A c.(691-693)GGG>AGG p.G231R NLRP3_uc001ics.2_Missense_Mutation_p.G231R|NLRP3_uc001icu.2_Missense_Mutation_p.G231R|NLRP3_uc001icw.2_Missense_Mutation_p.G231R|NLRP3_uc001icv.2_Missense_Mutation_p.G231R|NLRP3_uc010pyw.1_Missense_Mutation_p.G229R|NLRP3_uc001ict.1_Missense_Mutation_p.G229R NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 231 ATP (Potential).|NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGCAGGGATTGGGAAAACAAT 0.542 NA 10 16 0 0 0.008291 0 0 OR13G1 441933 broad.mit.edu 37 1 247836335 247836335 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:247836335G>T uc001idi.1 - 1 9 c.9C>A c.(7-9)CAC>CAA p.H3Q NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTACAACGCTGTGATTCATCC 0.403 NA 11 41 2.27111e-07 2.84897e-07 0.001368 1 0 OR2W3 343171 broad.mit.edu 37 1 248059478 248059478 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:248059478G>T uc001idp.1 + 3 859 c.590G>T c.(589-591)GGC>GTC p.G197V OR2W3_uc010pzb.1_Missense_Mutation_p.G197V NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 197 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCATCGAAGGCACCGTCTTT 0.592 NA 16 66 3.80469e-20 6.61144e-20 0.009535 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129425 248129425 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:248129425C>A uc010pzd.1 + 1 792 c.792C>A c.(790-792)AGC>AGA p.S264R OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 264 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGTGGCAAGCCTGTTCTATG 0.493 Melanoma(45;390 1181 23848 28461 41504) NA 11 33 3.86212e-05 4.51527e-05 0.008291 1 0 OR2T3 343173 broad.mit.edu 37 1 248637201 248637201 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:248637201T>A uc001iel.1 + 1 550 c.550T>A c.(550-552)TGT>AGT p.C184S NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGTTTTTTCTGTGAGACTCC 0.517 NA 17 63 0 0 0.008871 0 0 OR2G6 391211 broad.mit.edu 37 1 248685394 248685394 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:248685394G>T uc001ien.1 + 1 447 c.447G>T c.(445-447)TGG>TGT p.W149C NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGAGCATGGCTCAGCGGCC 0.582 NA 7 30 0.00307968 0.00331979 0.00308 1 0 PGBD2 267002 broad.mit.edu 37 1 249211251 249211251 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:249211251C>T uc001ifh.2 + 3 615 c.468C>T c.(466-468)TTC>TTT p.F156F PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Silent_p.F153F NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 156 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CAATTAATTTCATTGTTAATG 0.383 NA 8 98 0 0 0.006214 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939506 14939506 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:14939506A>C uc001inh.2 + 2 715 c.659A>C c.(658-660)TAT>TCT p.Y220S SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Missense_Mutation_p.Y220S|SUV39H2_uc001inj.2_Missense_Mutation_p.Y220S NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 280 SET. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 GTCATGGAATATGTTGGAGAG 0.383 NA 3 58 0 0 0.004672 0 0 CUBN 8029 broad.mit.edu 37 10 16982167 16982167 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:16982167C>A uc001ioo.2 - 37 5464 c.5412G>T c.(5410-5412)ACG>ACT p.T1804T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1804 CUB 12. 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) CCAAGTGACCCGTGGCATTTC 0.448 NA 52 199 9.86064e-34 1.83911e-33 0.00361 1 0 MRC1 4360 broad.mit.edu 37 10 17891603 17891603 + Missense_Mutation SNP T T G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:17891603T>G uc001ipk.2 + 7 1187 c.1084T>G c.(1084-1086)TGT>GGT p.C362G NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 362 Extracellular (Potential). receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 GCCTACTCACTGTCCTAGTCA 0.358 GBM(115;1153 1594 28187 28781 35884) NA 18 87 0 0 0.005443 0 0 DNAJC1 64215 broad.mit.edu 37 10 22207776 22207776 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:22207776C>G uc001irc.2 - 6 948 c.661G>C c.(661-663)GAT>CAT p.D221H DNAJC1_uc001ird.2_Missense_Mutation_p.D107H NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 221 Cytoplasmic (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) GGAAGCAAATCATGCCACTGT 0.373 NA 11 21 0 0 0.001368 0 0 SPAG6 9576 broad.mit.edu 37 10 22680714 22680714 + Silent SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:22680714T>A uc001iri.2 + 8 1204 c.1062T>A c.(1060-1062)GCT>GCA p.A354A SPAG6_uc001irj.2_Silent_p.A354A|SPAG6_uc010qct.1_Silent_p.A324A|SPAG6_uc009xkh.2_Silent_p.A332A NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 354 ARM 7. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 ATATTAAGGCTGCAGCTGCTT 0.483 NA 12 29 0 0 0.004007 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22880696 22880696 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:22880696C>T uc001irl.3 - 4 602 c.354G>A c.(352-354)AGG>AGA p.R118R PIP4K2A_uc010qcu.1_5'UTR NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 118 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 GGGGTGCGCTCCTGGTCAGGG 0.522 NA 18 26 0 0 0.010504 0 0 LOC387646 387646 broad.mit.edu 37 10 27539347 27539347 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:27539347C>G uc001its.2 - 1 1889 c.46G>C c.(46-48)GGT>CGT p.G16R NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 ACAGGAGGACCTGGAGGCTCA 0.597 NA 4 23 0 0 0.009096 0 0 ZNF25 219749 broad.mit.edu 37 10 38246347 38246347 + Splice_Site SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:38246347C>A uc001ize.1 - 3 247 c.142_splice c.e3+1 p.G48_splice ZNF25_uc001izf.1_Splice_Site_p.G12_splice NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GTTTTCCTCACCCACTGAGAC 0.423 NA 22 68 1.66031e-10 2.34136e-10 0.003954 1 0 ZNF485 220992 broad.mit.edu 37 10 44112805 44112805 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:44112805G>T uc010qfc.1 + 5 1508 c.1314G>T c.(1312-1314)ATG>ATT p.M438I ZNF485_uc010qfd.1_Missense_Mutation_p.M347I NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGAGCCATGAAATGTAGTT 0.343 NA 13 15 3.27435e-08 4.24132e-08 0.00245 1 0 C10orf72 196740 broad.mit.edu 37 10 50255081 50255081 + Missense_Mutation SNP C C A rs149594660 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:50255081C>A uc001jhf.2 - 7 813 c.784G>T c.(784-786)GCC>TCC p.A262S NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 262 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 AACGTGGGGGCTATCGGAGCT 0.478 NA 37 48 2.95478e-19 5.09279e-19 0.00874 1 0 PGBD3 267004 broad.mit.edu 37 10 50724060 50724060 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:50724060C>A uc001jht.2 - 2 1356 c.1101G>T c.(1099-1101)ATG>ATT p.M367I ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.M835I|PGBD3_uc001jhu.2_Missense_Mutation_p.M835I NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 367 pancreas(1)|breast(1)|skin(1) 3 CCTGATGTCCCATTGAACTGA 0.393 NA 29 49 0.000184323 0.000210845 0.007291 1 0 DDX50 79009 broad.mit.edu 37 10 70694664 70694664 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:70694664A>T uc001jou.2 + 10 1618 c.1511A>T c.(1510-1512)GAA>GTA p.E504V DDX50_uc010qjc.1_Missense_Mutation_p.E504V NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 504 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 AGATATGTGGAACAAAAAGCA 0.373 NA 25 35 0 0 0.004656 0 0 H2AFY2 55506 broad.mit.edu 37 10 71851628 71851628 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:71851628C>A uc001jqm.2 + 4 854 c.395C>A c.(394-396)CCA>CAA p.P132Q H2AFY2_uc001jqn.2_RNA NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 132 Lys-rich. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding skin(1) 1 TCCCCACCCCCAGAGAAAAGA 0.597 NA 19 17 8.10497e-08 1.03509e-07 0.010504 1 0 LDB3 11155 broad.mit.edu 37 10 88441349 88441349 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:88441349G>T uc001kdv.2 + 4 501 c.478G>T c.(478-480)GAC>TAC p.D160Y LDB3_uc010qml.1_Missense_Mutation_p.D160Y|LDB3_uc010qmm.1_Missense_Mutation_p.D160Y|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Missense_Mutation_p.D160Y|LDB3_uc001kds.2_Missense_Mutation_p.D160Y|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 160 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 CGAGGCCTCTGACCCTGGCCC 0.736 NA 10 31 1.58986e-06 1.94079e-06 0.008291 1 0 PLCE1 51196 broad.mit.edu 37 10 95791904 95791904 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:95791904G>T uc001kjk.2 + 2 1735 c.1101G>T c.(1099-1101)AAG>AAT p.K367N PLCE1_uc010qnx.1_Missense_Mutation_p.K367N NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 367 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TAGATCAGAAGAGAAATGGTC 0.483 NA 17 31 1.5739e-10 2.24439e-10 0.004007 1 0 ENTPD1 953 broad.mit.edu 37 10 97607405 97607405 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:97607405C>A uc001klh.3 + 7 1340 c.1016C>A c.(1015-1017)CCT>CAT p.P339H ENTPD1_uc001kli.3_Missense_Mutation_p.P346H|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.P351H|ENTPD1_uc010qok.1_Missense_Mutation_p.P231H|ENTPD1_uc010qol.1_Missense_Mutation_p.P231H|ENTPD1_uc010qom.1_Missense_Mutation_p.P298H|ENTPD1_uc010qon.1_Missense_Mutation_p.P201H|ENTPD1_uc009xva.2_Missense_Mutation_p.P201H|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 339 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) AGTTACTGCCCTTACTCCCAG 0.418 NA 28 55 6.38683e-12 9.44657e-12 0.008361 1 0 FBXW4 6468 broad.mit.edu 37 10 103384540 103384540 + Silent SNP G G A rs148535514 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:103384540G>A uc001kto.2 - 6 1144 c.798C>T c.(796-798)TGC>TGT p.C266C NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 266 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) AGAAGTGCCCGCAACAAGCCG 0.517 NA 6 24 0 0 0.004482 0 0 C10orf79 80217 broad.mit.edu 37 10 105902094 105902094 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:105902094C>T uc001kxw.2 - 33 4332 c.4216G>A c.(4216-4218)GAG>AAG p.E1406K C10orf79_uc009xxq.2_Missense_Mutation_p.E685K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1406 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCTTCCTCCTCAACTCTCTTC 0.403 NA 10 68 0 0 0.006214 0 0 PDCD4 27250 broad.mit.edu 37 10 112641277 112641277 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:112641277G>T uc001kzh.2 + 3 573 c.330G>T c.(328-330)AGG>AGT p.R110S PDCD4_uc001kzg.2_Missense_Mutation_p.R99S|PDCD4_uc010qre.1_Missense_Mutation_p.R96S NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 110 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) GGAAAGGAAGGGGACTACCAA 0.443 Ovarian(115;1498 1603 9363 40056 40885) NA 10 23 0.000442599 0.000496461 0.006214 1 0 GRK5 2869 broad.mit.edu 37 10 121214575 121214575 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr10:121214575G>T uc001led.2 + 16 2002 c.1769G>T c.(1768-1770)AGC>ATC p.S590I GRK5_uc009xzh.2_Missense_Mutation_p.S455I NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 590 G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) ACCGGAAGCAGCTAGTTTCGG 0.552 NA 11 18 0.00136819 0.0015003 0.001368 1 0 OSBPL5 114879 broad.mit.edu 37 11 3123481 3123481 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:3123481C>G uc001lxk.2 - 12 1515 c.1357G>C c.(1357-1359)GGG>CGG p.G453R OSBPL5_uc010qxq.1_Missense_Mutation_p.G364R|OSBPL5_uc009ydw.2_Missense_Mutation_p.G385R|OSBPL5_uc001lxl.2_Missense_Mutation_p.G385R|OSBPL5_uc009ydx.2_Missense_Mutation_p.G477R NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 453 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AAGGTCTCCCCCAGGATGGGG 0.597 NA 3 1 0 0 0.004672 0 0 OR52N4 390072 broad.mit.edu 37 11 5776568 5776568 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:5776568T>A uc001mbu.2 + 1 646 c.598T>A c.(598-600)TAT>AAT p.Y200N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CAATGCCATCTATGGTCTGAT 0.502 NA 26 47 0 0 0.003954 0 0 OR52N2 390077 broad.mit.edu 37 11 5841931 5841931 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:5841931G>T uc010qzp.1 + 1 366 c.366G>T c.(364-366)CTG>CTT p.L122L TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATGGCCCTGGACCGCTATG 0.537 NA 8 52 5.4927e-09 7.44853e-09 0.004482 1 0 OR56A3 390083 broad.mit.edu 37 11 5968952 5968952 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:5968952C>A uc010qzt.1 + 1 376 c.376C>A c.(376-378)CGT>AGT p.R126S NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCTATGATCGTTATGTAGC 0.458 NA 28 65 1.55811e-20 2.72241e-20 0.008361 1 0 OR10A4 283297 broad.mit.edu 37 11 6898490 6898490 + Silent SNP T T G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:6898490T>G uc010rat.1 + 1 612 c.612T>G c.(610-612)ACT>ACG p.T204T NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGACAGCCACTGTCCTATTCA 0.522 NA 11 53 0 0 0.000978 0 0 IPO7 10527 broad.mit.edu 37 11 9459724 9459724 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:9459724C>T uc001mho.2 + 22 2729 c.2587C>T c.(2587-2589)CCG>TCG p.P863S NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 863 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity p.P863P(1) lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACAGATTTTGCCGGCTTTTAT 0.343 NA 5 184 0 0 0.001168 0 0 MYOD1 4654 broad.mit.edu 37 11 17742882 17742882 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:17742882C>A uc001mni.2 + 3 1010 c.790C>A c.(790-792)CCT>ACT p.P264T NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 264 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CACCGAGAGCCCTGCGGCGCC 0.726 NA 5 10 1.23904e-05 1.47295e-05 0.000602 1 0 MRGPRX1 259249 broad.mit.edu 37 11 18955987 18955987 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:18955987G>A uc001mpg.2 - 1 563 c.345C>T c.(343-345)GCC>GCT p.A115A NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 115 Helical; Name=3; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 CGGTGCTCACGGCACTCAGAA 0.567 NA 16 88 0 0 0.003163 0 0 TRAF6 7189 broad.mit.edu 37 11 36511949 36511949 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:36511949G>A uc001mwr.1 - 8 1348 c.1008C>T c.(1006-1008)ACC>ACT p.T336T uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Silent_p.T336T NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 336 Potential.|Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) TGTCCTCAAGGGTTCGAATGG 0.423 NA 21 110 0 0 0.00278 0 0 F2 2147 broad.mit.edu 37 11 46744801 46744801 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:46744801C>A uc001ndf.3 + 5 431 c.388C>A c.(388-390)CAG>AAG p.Q130K F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 130 Kringle 1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CATTGAGTGCCAGCTATGGAG 0.607 Esophageal Squamous(147;1147 1808 2148 38609 51144) NA 18 76 9.16793e-09 1.21223e-08 0.00499 1 0 CKAP5 9793 broad.mit.edu 37 11 46772905 46772905 + Silent SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:46772905T>C uc001ndi.1 - 39 5423 c.5313A>G c.(5311-5313)AAA>AAG p.K1771K CKAP5_uc009ylg.1_Silent_p.K1657K|CKAP5_uc001ndj.1_Silent_p.K1711K|CKAP5_uc001ndh.1_Silent_p.K700K NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1771 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CCTTGGGCCCTTTTAATTTGC 0.443 Ovarian(4;85 273 2202 4844 13323) NA 3 116 0 0 0.004672 0 0 NR1H3 10062 broad.mit.edu 37 11 47282972 47282972 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:47282972G>T uc009ylm.2 + 5 901 c.680G>T c.(679-681)CGC>CTC p.R227L NR1H3_uc009yll.1_Missense_Mutation_p.R233L|NR1H3_uc010rhk.1_Missense_Mutation_p.R233L|NR1H3_uc001nek.2_Missense_Mutation_p.R182L|NR1H3_uc001nej.2_Missense_Mutation_p.R227L|NR1H3_uc001nel.2_Missense_Mutation_p.R182L|NR1H3_uc001nen.3_Missense_Mutation_p.R227L|NR1H3_uc001nem.2_Missense_Mutation_p.R227L|NR1H3_uc001nep.2_Missense_Mutation_p.R136L NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 227 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 TGTAACCGGCGCTCCTTTTCT 0.617 NA 13 23 2.31682e-05 2.7287e-05 0.003163 1 0 CELF1 10658 broad.mit.edu 37 11 47506016 47506016 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:47506016T>C uc001nfl.2 - 4 380 c.370A>G c.(370-372)ATC>GTC p.I124V CELF1_uc001nfm.2_Missense_Mutation_p.I124V|CELF1_uc001nfn.2_Missense_Mutation_p.I124V|CELF1_uc001nfo.1_Missense_Mutation_p.I150V|CELF1_uc010rhm.1_Missense_Mutation_p.I123V|CELF1_uc001nfp.2_Missense_Mutation_p.I151V|CELF1_uc001nfq.1_Missense_Mutation_p.I124V|CELF1_uc001nfr.1_Missense_Mutation_p.I124V NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 124 RRM 2. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 ATGACTCGGATGTCATTTTCA 0.403 Pancreas(163;1949 1966 9906 43218 43785) NA 21 38 0 0 0.010504 0 0 AGBL2 79841 broad.mit.edu 37 11 47712103 47712103 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:47712103C>T uc001ngg.2 - 9 1256 c.1156G>A c.(1156-1158)GAC>AAC p.D386N AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.D348N|AGBL2_uc001ngh.1_Missense_Mutation_p.D330N NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 386 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 GTGTCCTGGTCATATGGAAAC 0.458 NA 25 47 0 0 0.003954 0 0 OR4C46 119749 broad.mit.edu 37 11 51516184 51516184 + Silent SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:51516184T>C uc010ric.1 + 1 903 c.903T>C c.(901-903)AGT>AGC p.S301S NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AATTGTGTAGTAGAAAGGACA 0.274 NA 16 22 0 0 0.00499 0 0 OR5D14 219436 broad.mit.edu 37 11 55563359 55563359 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:55563359G>T uc010rim.1 + 1 328 c.328G>T c.(328-330)GTG>TTG p.V110L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CTGCACTGCTGTGGTGACAGA 0.488 NA 16 21 3.45872e-05 4.05857e-05 0.004007 1 0 OR8H2 390151 broad.mit.edu 37 11 55873241 55873241 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:55873241C>A uc010riy.1 + 1 723 c.723C>A c.(721-723)TGC>TGA p.C241* NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TCTCTACTTGCGTCTCTCATC 0.378 NA HNSCC(53;0.14) 20 41 1.90627e-21 3.38655e-21 0.001882 1 0 OR8J3 81168 broad.mit.edu 37 11 55904269 55904269 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:55904269C>A uc010riz.1 - 1 926 c.926G>T c.(925-927)TGT>TTT p.C309F NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) AAAGGAGTAACATGGATTTTC 0.313 NA 17 37 8.10497e-08 1.03509e-07 0.010504 1 0 OR5T3 390154 broad.mit.edu 37 11 56020158 56020158 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:56020158G>A uc010rjd.1 + 1 483 c.483G>A c.(481-483)CTG>CTA p.L161L NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 161 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ACCCTCTCCTGTATTCAGTGA 0.413 NA 22 127 0 0 0.002299 0 0 EHD1 10938 broad.mit.edu 37 11 64622062 64622062 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:64622062C>T uc001obu.1 - 5 1603 c.1348G>A c.(1348-1350)GAG>AAG p.E450K EHD1_uc001obt.1_Missense_Mutation_p.E133K|EHD1_uc001obv.1_Missense_Mutation_p.E450K|EHD1_uc010rnq.1_Missense_Mutation_p.E464K NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 450 EH. blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 TAGAAGATCTCGTCGTAGGTG 0.637 NA 19 32 0 0 0.010504 0 0 RHOD 29984 broad.mit.edu 37 11 66833438 66833438 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:66833438C>T uc001ojv.2 + 2 289 c.204C>T c.(202-204)CAC>CAT p.H68H NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 68 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 TGCACCTCCACATCTGGGACA 0.622 NA 6 6 0 0 0.001168 0 0 GSTP1 2950 broad.mit.edu 37 11 67353590 67353590 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:67353590G>T uc001omf.2 + 6 601 c.352G>T c.(352-354)GAC>TAC p.D118Y GSTP1_uc001omg.1_Missense_Mutation_p.D99Y NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 118 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) GGGCAAGGATGACTATGTGAA 0.597 NA 5 6 0.000602214 0.000668426 0.000602 1 0 PANX1 24145 broad.mit.edu 37 11 93912816 93912816 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:93912816G>T uc001per.2 + 4 979 c.594G>T c.(592-594)CAG>CAT p.Q198H PANX1_uc001peq.2_Missense_Mutation_p.Q198H NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 198 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGTGGAGCAGTACTTGAAGA 0.368 NA 7 13 1.06961e-07 1.36327e-07 0.00308 1 0 MMP10 4319 broad.mit.edu 37 11 102647152 102647152 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:102647152G>T uc001phg.1 - 6 813 c.791C>A c.(790-792)CCT>CAT p.P264H NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 264 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GGCAGGGGGAGGTCCTAAAGG 0.473 NA 11 21 2.27111e-07 2.84897e-07 0.001368 1 0 DSCAML1 57453 broad.mit.edu 37 11 117392117 117392117 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:117392117G>A uc001prh.1 - 6 1123 c.1121C>T c.(1120-1122)CCC>CTC p.P374L DSCAML1_uc001pri.1_Missense_Mutation_p.P178L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 314 Extracellular (Potential).|Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACATGAAGGGGATCTGGGCC 0.592 NA 9 10 0 0 0.000978 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18719923 18719923 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:18719923C>T uc001rdt.2 + 28 3936 c.3820C>T c.(3820-3822)CAC>TAC p.H1274Y PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.H1315Y|PIK3C2G_uc010sic.1_Missense_Mutation_p.H1093Y NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1274 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) AAATTCAGATCACAGAAGATT 0.284 NA 14 26 0 0 0.00499 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20870080 20870080 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:20870080G>T uc001rej.3 + 8 1046 c.691G>T c.(691-693)GTT>TTT p.V231F SLCO1C1_uc010sii.1_Missense_Mutation_p.V231F|SLCO1C1_uc010sij.1_Missense_Mutation_p.V182F|SLCO1C1_uc009zip.2_Missense_Mutation_p.V65F|SLCO1C1_uc001rei.2_Missense_Mutation_p.V231F|SLCO1C1_uc010sik.1_Missense_Mutation_p.V113F NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 231 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TGTGCAGACGGTTGCAATTAT 0.333 NA 13 26 0.000308642 0.000346813 0.003163 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20896250 20896250 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:20896250C>A uc001rej.3 + 14 2100 c.1745C>A c.(1744-1746)CCA>CAA p.P582Q SLCO1C1_uc010sii.1_Missense_Mutation_p.P582Q|SLCO1C1_uc010sij.1_Missense_Mutation_p.P533Q|SLCO1C1_uc009zip.2_Missense_Mutation_p.P416Q|SLCO1C1_uc001rei.2_Missense_Mutation_p.P582Q|SLCO1C1_uc010sik.1_Missense_Mutation_p.P464Q NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 582 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TGCATTAAGCCACAGCTTAAG 0.323 NA 47 72 1.61004e-24 2.94248e-24 0.00361 1 0 C12orf77 196415 broad.mit.edu 37 12 25148752 25148752 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:25148752C>T uc001rgf.2 - 3 601 c.396G>A c.(394-396)GGG>GGA p.G132G NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 132 0 TGCAGTATATCCCCAACAGGA 0.418 NA 5 12 0 0 0.001984 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 11 0.00307968 0.00331979 0.00308 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43858522 43858522 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:43858522C>A uc010skx.1 - 10 1381 c.1381G>T c.(1381-1383)GAA>TAA p.E461* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 461 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGAAGACATTCCCCGTAACCA 0.363 NA 10 17 1.76689e-08 2.30275e-08 0.006214 1 0 SFRS2IP 9169 broad.mit.edu 37 12 46342248 46342248 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:46342248A>C uc001rox.2 - 5 657 c.370T>G c.(370-372)TGT>GGT p.C124G SFRS2IP_uc001roy.1_Missense_Mutation_p.C198G NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 124 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTTCATGACAGGAGACCTGT 0.308 NA 14 22 0 0 0.004007 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037160 50037160 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:50037160C>T uc001rur.1 + 22 2361 c.2297C>T c.(2296-2298)TCC>TTC p.S766F FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.S787F|PRPF40B_uc001ruq.1_Missense_Mutation_p.S753F|PRPF40B_uc001rus.1_Missense_Mutation_p.S708F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 766 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GGCTCCCCTTCCTCCCATCTT 0.592 NA 30 38 0 0 0.009535 0 0 KRT71 112802 broad.mit.edu 37 12 52941958 52941958 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:52941958G>T uc001sao.2 - 5 1026 c.956C>A c.(955-957)GCT>GAT p.A319D NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 319 Coil 2.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) CAGGGCCTCAGCCTCGGCCTT 0.577 NA 6 35 0.00307968 0.00331979 0.00308 1 0 HOXC13 3229 broad.mit.edu 37 12 54338921 54338921 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:54338921C>G uc001sei.2 + 2 989 c.874C>G c.(874-876)CGC>GGC p.R292G HOXC13_uc010sop.1_RNA NM_017410 NP_059106 P31276 HXC13_HUMAN homeobox C13 292 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GAAGCGCCGGCGCATCTCCGC 0.582 NA T NUP98 AML 18 28 0 0 0.006122 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58024791 58024791 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:58024791A>T uc001spg.1 - 4 894 c.462T>A c.(460-462)GTT>GTA p.V154V B4GALNT1_uc010sru.1_Silent_p.V99V|B4GALNT1_uc010srv.1_Silent_p.V154V|B4GALNT1_uc001sph.2_Silent_p.V154V|B4GALNT1_uc001spi.2_Silent_p.V154V NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 154 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGAGGGGCTGAACTTCCACAC 0.642 NA 13 21 0 0 0.00245 0 0 BEST3 144453 broad.mit.edu 37 12 70049458 70049458 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:70049458G>T uc001svg.2 - 10 1463 c.1236C>A c.(1234-1236)AGC>AGA p.S412R BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S199R|BEST3_uc010stm.1_Missense_Mutation_p.S306R NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 412 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCCTCCTGTAGCTTCTTCTTC 0.562 NA 28 34 4.22769e-11 6.15289e-11 0.00632 1 0 TRHDE 29953 broad.mit.edu 37 12 73056892 73056892 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:73056892G>C uc001sxa.2 + 19 3022 c.2992G>C c.(2992-2994)GAA>CAA p.E998Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 998 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ACGAGCTGTGGAAACTGTCGA 0.388 NA 19 18 0 0 0.008871 0 0 DCN 1634 broad.mit.edu 37 12 91539908 91539908 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:91539908T>A uc001tbs.2 - 7 1101 c.1007A>T c.(1006-1008)TAC>TTC p.Y336F DCN_uc001tbo.2_Missense_Mutation_p.Y227F|DCN_uc001tbp.2_Missense_Mutation_p.Y189F|DCN_uc001tbq.2_Missense_Mutation_p.Y149F|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.Y336F|DCN_uc001tbu.2_Missense_Mutation_p.Y336F NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 336 LRR 12. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 TATCTCCCAGTACTGGACCGG 0.448 NA 5 45 0 0 0.000602 0 0 NT5DC3 51559 broad.mit.edu 37 12 104190758 104190758 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:104190758C>A uc010swe.1 - 6 708 c.667G>T c.(667-669)GAG>TAG p.E223* NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 223 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 AGGGTCATCTCGGGCAGGGAG 0.498 NA 21 24 1.64113e-05 1.94732e-05 0.010504 1 0 MAPKAPK5 8550 broad.mit.edu 37 12 112323739 112323739 + Nonsense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr12:112323739G>T uc001tta.2 + 10 1127 c.868G>T c.(868-870)GAG>TAG p.E290* MAPKAPK5_uc001tsz.2_Nonsense_Mutation_p.E290*|MAPKAPK5_uc001ttb.2_Nonsense_Mutation_p.E223* NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 290 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 GGTCAAACCGGAGGAGAGACT 0.557 NA 13 9 2.27111e-07 2.84897e-07 0.001368 1 0 FAM123A 219287 broad.mit.edu 37 13 25744194 25744194 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:25744194C>A uc001uqb.2 - 1 1664 c.1564G>T c.(1564-1566)GAG>TAG p.E522* FAM123A_uc001uqa.2_Nonsense_Mutation_p.E403*|FAM123A_uc001uqc.2_Nonsense_Mutation_p.E403* NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 522 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CAGTAGCCCTCGTCGCTGTTG 0.662 NA 19 25 2.39556e-15 3.88668e-15 0.00278 1 0 GPR12 2835 broad.mit.edu 37 13 27333191 27333191 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:27333191C>A uc010aal.2 - 2 996 c.774G>T c.(772-774)GGG>GGT p.G258G GPR12_uc010tdl.1_Silent_p.G99G NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 258 Helical; Name=6; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CAGCAAACGTCCCCAGGATGA 0.587 NA 12 14 3.07112e-06 3.71337e-06 0.000978 1 0 POLR1D 51082 broad.mit.edu 37 13 28240074 28240074 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:28240074G>T uc001urp.2 + 3 471 c.353G>T c.(352-354)CGG>CTG p.R118L POLR1D_uc010aam.2_Missense_Mutation_p.R90L|POLR1D_uc001urq.2_RNA NM_152705 NP_689918 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 2 Error:Variant_position_missing_in_Q9Y2S0_after_alignment termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) TACGAAAAGCGGTCCAACCGG 0.652 NA 11 24 2.68362e-12 4.00653e-12 0.001368 1 0 TRPC4 7223 broad.mit.edu 37 13 38225483 38225483 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:38225483G>A uc001uws.2 - 8 2233 c.1998C>T c.(1996-1998)CTC>CTT p.L666L TRPC4_uc010abv.2_Silent_p.L246L|TRPC4_uc001uwt.2_Silent_p.L666L|TRPC4_uc010tey.1_Silent_p.L666L|TRPC4_uc010abw.2_Silent_p.L493L|TRPC4_uc010abx.2_Silent_p.L666L|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 666 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCAGGTACCAGAGAGACTTGG 0.423 NA 7 48 0 0 0.00308 0 0 DACH1 1602 broad.mit.edu 37 13 72049302 72049302 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:72049302C>A uc010thn.1 - 11 2477 c.2054G>T c.(2053-2055)GGC>GTC p.G685V DACH1_uc010tho.1_Missense_Mutation_p.G537V|DACH1_uc010thp.1_Missense_Mutation_p.G483V NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 737 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATCTGTTCTGCCGCCACTGCG 0.408 NA 18 34 2.4624e-09 3.3607e-09 0.008871 1 0 DACH1 1602 broad.mit.edu 37 13 72146989 72146989 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:72146989C>G uc010thn.1 - 5 1705 c.1282G>C c.(1282-1284)GAG>CAG p.E428Q DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 480 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ACTGATGTCTCAACTCTGGAT 0.408 NA 3 65 0 0 0.004672 0 0 STK24 8428 broad.mit.edu 37 13 99127110 99127110 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:99127110G>A uc001vnm.1 - 5 833 c.598C>T c.(598-600)CCC>TCC p.P200S STK24_uc001vnn.1_Missense_Mutation_p.P188S|STK24_uc010tim.1_Missense_Mutation_p.P169S NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 200 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) ATGACCTCGGGTGCCATCCAG 0.622 NA 22 64 0 0 0.00333 0 0 KDELC1 79070 broad.mit.edu 37 13 103443386 103443386 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:103443386T>A uc001vpq.3 - 6 1332 c.948A>T c.(946-948)AGA>AGT p.R316S KDELC1_uc001vpr.3_Missense_Mutation_p.R97S NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 316 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCAGCTCGAGTCTCTCTTTGC 0.478 NA 15 32 0 0 0.004007 0 0 ERCC5 2073 broad.mit.edu 37 13 103520541 103520541 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:103520541G>T uc001vpw.2 + 12 3055 c.2612G>T c.(2611-2613)TGT>TTT p.C871F ERCC5_uc001vpu.1_Missense_Mutation_p.C1325F|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.C703F NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 871 I-domain. EGIPTVGCV -> GNTNCGLC (in Ref. 2; BAA03812). negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACTGTGGGTTGTGTAACCGCC 0.363 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 22 54 5.45024e-15 8.73137e-15 0.00333 1 0 SLC10A2 6555 broad.mit.edu 37 13 103718307 103718307 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:103718307A>G uc001vpy.3 - 1 890 c.293T>C c.(292-294)GTA>GCA p.V98A NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 98 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAGCACCACTACGGCCTGGAG 0.532 NA 14 59 0 0 0.004007 0 0 MYO16 23026 broad.mit.edu 37 13 109318301 109318301 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr13:109318301C>A uc001vqt.1 + 2 156 c.30C>A c.(28-30)TCC>TCA p.S10S MYO16_uc010agk.1_Silent_p.S32S NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 10 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TGCTAGAGTCCCTTCCCCTTG 0.522 NA 13 20 4.3838e-07 5.45616e-07 0.001855 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215940 20215940 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:20215940C>A uc010tkt.1 + 1 354 c.354C>A c.(352-354)GTC>GTA p.V118V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCTGACAGTCATGGCCTATG 0.498 NA 17 69 9.16793e-09 1.21223e-08 0.00499 1 0 OR4N2 390429 broad.mit.edu 37 14 20295622 20295622 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:20295622C>A uc010tkv.1 + 1 15 c.15C>A c.(13-15)AAC>AAA p.N5K NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAAGCGAGAACAGAACAGTGA 0.373 NA 36 116 2.51541e-25 4.6237e-25 0.004878 1 0 OR11G2 390439 broad.mit.edu 37 14 20666456 20666456 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:20666456C>A uc010tlb.1 + 1 962 c.962C>A c.(961-963)CCA>CAA p.P321Q NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 321 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) gttgttaccccactgcttaac 0.214 NA 23 58 1.10923e-09 1.53031e-09 0.00278 1 0 OR11H6 122748 broad.mit.edu 37 14 20692663 20692663 + Silent SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:20692663G>C uc010tlc.1 + 1 795 c.795G>C c.(793-795)GTG>GTC p.V265V NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ACCTAATGGTGGTGTCTCTAT 0.478 NA 30 44 0 0 0.008361 0 0 RNASE3 6037 broad.mit.edu 37 14 21359949 21359949 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:21359949C>A uc001vyj.2 + 2 158 c.104C>A c.(103-105)GCT>GAT p.A35D NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 35 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) TTTACGAGGGCTCAGTGGTTT 0.498 NA 31 60 5.91797e-21 1.03973e-20 0.002445 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21795831 21795831 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:21795831A>T uc001wag.2 + 17 2760 c.2760A>T c.(2758-2760)CAA>CAT p.Q920H RPGRIP1_uc001wah.2_Missense_Mutation_p.Q562H|RPGRIP1_uc001wai.2_Missense_Mutation_p.Q246H|RPGRIP1_uc001wak.2_Missense_Mutation_p.Q395H|RPGRIP1_uc010aim.2_Missense_Mutation_p.Q303H|RPGRIP1_uc001wal.2_Missense_Mutation_p.Q279H|RPGRIP1_uc001wam.2_Missense_Mutation_p.Q237H NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 920 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GATCTATTCAAGTGCAACTGG 0.428 NA 19 31 0 0 0.010504 0 0 EFS 10278 broad.mit.edu 37 14 23828659 23828659 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:23828659C>A uc001wjo.2 - 4 1636 c.1028G>T c.(1027-1029)CGC>CTC p.R343L EFS_uc001wjp.2_Missense_Mutation_p.R250L|EFS_uc010tnm.1_Missense_Mutation_p.R174L NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 343 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) ACCAGGCAGGCGGGGTGGGGG 0.692 NA 11 43 7.03913e-09 9.4449e-09 0.001368 1 0 MYH7 4625 broad.mit.edu 37 14 23884706 23884706 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:23884706G>T uc001wjx.2 - 36 5273 c.5167C>A c.(5167-5169)CTC>ATC p.L1723I NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1723 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGTTGATGAGGCTGGTGTTC 0.557 NA 13 36 0.00136819 0.0015003 0.001368 1 0 FOXG1 2290 broad.mit.edu 37 14 29237064 29237064 + Silent SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:29237064C>G uc001wqe.2 + 1 778 c.579C>G c.(577-579)GCC>GCG p.A193A NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 193 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCATGATGGCCATCCGGCAGA 0.438 NA 11 22 0 0 0.001368 0 0 FOXG1 2290 broad.mit.edu 37 14 29237494 29237494 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:29237494C>A uc001wqe.2 + 1 1208 c.1009C>A c.(1009-1011)CAC>AAC p.H337N NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 337 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CTACCCCAGCCACCCCATGCC 0.652 NA 30 94 0.000279167 0.000314805 0.009535 1 0 RPL10L 140801 broad.mit.edu 37 14 47120456 47120456 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:47120456G>T uc001wwg.2 - 1 573 c.484C>A c.(484-486)CGC>AGC p.R162S NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 162 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 ATCTTCTGGCGTCCAGGGAAC 0.502 NA 23 34 4.26978e-12 6.34481e-12 0.00333 1 0 OTUB2 78990 broad.mit.edu 37 14 94510400 94510400 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr14:94510400C>T uc001yci.2 + 4 462 c.302C>T c.(301-303)GCT>GTT p.A101V NM_023112 NP_075601 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 101 OTU. cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity 0 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) TTCTTCAATGCTGTGAGTTCA 0.567 NA 39 54 0 0 0.00623 0 0 OR4M2 390538 broad.mit.edu 37 15 22369380 22369380 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:22369380C>A uc010tzu.1 + 1 805 c.805C>A c.(805-807)CTA>ATA p.L269I LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCGTTTTCCCTAGATAAAGT 0.418 NA 24 155 9.57634e-11 1.37175e-10 0.00333 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22864307 22864307 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:22864307G>T uc001yur.3 + 16 2395 c.2265G>T c.(2263-2265)GTG>GTT p.V755V TUBGCP5_uc001yuq.2_Silent_p.V755V NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 755 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GGCAGAATGTGTCTTTTCTTA 0.353 NA 7 38 0.000157383 0.000180353 0.00308 1 0 APBA2 321 broad.mit.edu 37 15 29346220 29346220 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:29346220G>T uc001zck.2 + 3 340 c.133G>T c.(133-135)GGC>TGC p.G45C APBA2_uc010azj.2_Missense_Mutation_p.G45C|APBA2_uc010uat.1_Missense_Mutation_p.G45C|APBA2_uc001zcl.2_Missense_Mutation_p.G45C|APBA2_uc010uas.1_Missense_Mutation_p.G45C NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 45 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGTGCCCGAGGGCCTGGAGCT 0.657 NA 5 34 0.000602214 0.000668426 0.000602 1 0 RYR3 6263 broad.mit.edu 37 15 33895391 33895391 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:33895391C>A uc001zhi.2 + 18 2060 c.1990C>A c.(1990-1992)CTG>ATG p.L664M RYR3_uc010bar.2_Missense_Mutation_p.L664M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 664 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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) GTACTTCGAGCTGATTATCGA 0.567 NA 15 97 3.45872e-05 4.05857e-05 0.004007 1 0 RYR3 6263 broad.mit.edu 37 15 34113753 34113753 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:34113753C>A uc001zhi.2 + 80 11015 c.10945C>A c.(10945-10947)CTG>ATG p.L3649M RYR3_uc010bar.2_Missense_Mutation_p.L3644M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3649 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) GGTTGAGACGCTGAAGCTGGG 0.552 NA 5 22 0.00116845 0.00128792 0.001168 1 0 ZNF770 54989 broad.mit.edu 37 15 35273923 35273923 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:35273923G>A uc001ziw.2 - 3 2024 c.1713C>T c.(1711-1713)GTC>GTT p.V571V NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CTGACTCTGAGACCTCGTATT 0.398 NA 23 122 0 0 0.00278 0 0 PAK6 56924 broad.mit.edu 37 15 40564712 40564712 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:40564712A>T uc010bbl.2 + 6 1586 c.1146A>T c.(1144-1146)ACA>ACT p.T382T PAK6_uc010bbm.2_Silent_p.T382T|PAK6_uc001zky.3_Silent_p.T382T|PAK6_uc010bbn.2_Silent_p.T382T|PAK6_uc001zlb.2_Silent_p.T382T NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 382 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GTGAGGACACAGGTGTTGTGA 0.647 NA 5 18 0 0 0.001168 0 0 C15orf43 145645 broad.mit.edu 37 15 45253761 45253761 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:45253761C>A uc001zuk.2 + 4 344 c.327C>A c.(325-327)GAC>GAA p.D109E NM_152448 NP_689661 Q8NHR7 CO043_HUMAN hypothetical protein LOC145645 109 0 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) GGGAACAAGACCAACATTTTC 0.284 NA 12 56 0.000219431 0.000250105 0.00245 1 0 MYO1E 4643 broad.mit.edu 37 15 59553681 59553681 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:59553681C>A uc002aga.2 - 3 547 c.175G>T c.(175-177)GTC>TTC p.V59F NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 59 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) AAAGGGTTGACTGAGATTAAT 0.338 NA 24 54 3.6726e-16 6.03559e-16 0.003954 1 0 TLE3 7090 broad.mit.edu 37 15 70358421 70358421 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:70358421C>A uc002asm.2 - 7 1628 c.509G>T c.(508-510)GGC>GTC p.G170V TLE3_uc002ask.2_Missense_Mutation_p.G114V|TLE3_uc002asl.2_Missense_Mutation_p.G175V|TLE3_uc010ukd.1_Missense_Mutation_p.G163V|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.G170V|TLE3_uc002asn.2_Missense_Mutation_p.G170V|TLE3_uc002asp.2_Missense_Mutation_p.G170V|TLE3_uc002aso.2_Missense_Mutation_p.G170V|TLE3_uc010bim.1_RNA NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 170 Gly/Pro-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 GCCCAGGGCGCCCAGTGCCAG 0.682 NA 9 18 4.68919e-08 6.0249e-08 0.008291 1 0 UNC45A 55898 broad.mit.edu 37 15 91489890 91489890 + Nonsense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr15:91489890C>T uc002bqg.2 + 10 1586 c.1246C>T c.(1246-1248)CAG>TAG p.Q416* UNC45A_uc002bqd.2_Nonsense_Mutation_p.Q401*|UNC45A_uc010uqr.1_5'Flank|UNC45A_uc002bqi.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 416 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACGGGCCATCCAGACGGTGTC 0.622 NA 4 13 0 0 0.009096 0 0 WDR90 197335 broad.mit.edu 37 16 712767 712767 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:712767A>T uc002cii.1 + 34 4288 c.4234A>T c.(4234-4236)ACC>TCC p.T1412S WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.T939S|WDR90_uc002cil.1_Intron|WDR90_uc002cim.1_Missense_Mutation_p.T588S|WDR90_uc002cin.1_Missense_Mutation_p.T27S|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1412 ovary(1) 1 Hepatocellular(780;0.0218) CGTCGTGGGCACCACGGCGGG 0.637 NA 7 17 0 0 0.001984 0 0 TPSD1 23430 broad.mit.edu 37 16 1306527 1306527 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:1306527G>T uc002clb.1 + 2 102 c.93G>T c.(91-93)CAG>CAT p.Q31H TPSD1_uc010brm.1_Translation_Start_Site NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 31 proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CCCCAGGCCAGGCCCTGCAGC 0.701 NA 17 52 3.41278e-10 4.79146e-10 0.00499 1 0 PRSS21 10942 broad.mit.edu 37 16 2868692 2868692 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:2868692G>C uc002crt.2 + 4 378 c.272G>C c.(271-273)AGT>ACT p.S91T PRSS21_uc002crs.2_Missense_Mutation_p.S89T|PRSS21_uc002crr.2_Missense_Mutation_p.S91T NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN testisin isoform 1 91 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity ovary(1)|skin(1) 2 AGTGACCTTAGTGATCCCTCC 0.567 NA 16 49 0 0 0.00499 0 0 NLRC3 197358 broad.mit.edu 37 16 3600416 3600416 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:3600416C>T uc010btn.2 - 12 2844 c.2433G>A c.(2431-2433)CTG>CTA p.L811L NLRC3_uc010bto.1_Silent_p.L76L NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 811 LRR 8. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GGACTCACTCCAGGCTCTCCA 0.572 NA 10 21 0 0 0.008291 0 0 A2BP1 54715 broad.mit.edu 37 16 7568325 7568325 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:7568325C>A uc002cys.2 + 5 1192 c.204C>A c.(202-204)CCC>CCA p.P68P A2BP1_uc010buf.1_Silent_p.P68P|A2BP1_uc002cyr.1_Silent_p.P68P|A2BP1_uc002cyt.2_Silent_p.P68P|A2BP1_uc010uxz.1_Silent_p.P111P|A2BP1_uc010uya.1_Silent_p.P104P|A2BP1_uc002cyv.1_Silent_p.P68P|A2BP1_uc010uyb.1_Silent_p.P68P|A2BP1_uc002cyw.2_Silent_p.P88P|A2BP1_uc002cyy.2_Silent_p.P88P|A2BP1_uc002cyx.2_Silent_p.P88P|A2BP1_uc010uyc.1_Silent_p.P88P NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 68 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TGTACCCTCCCGCCCAGACGC 0.642 NA 54 111 4.33383e-22 7.78621e-22 0.00361 1 0 DNAH3 55567 broad.mit.edu 37 16 21011740 21011740 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:21011740G>C uc010vbe.1 - 43 6227 c.6227C>G c.(6226-6228)ACA>AGA p.T2076R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2076 AAA 3 (By similarity).|ATP (Potential). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCCAGTGCCTGTGGGACCCAC 0.498 NA 12 27 0 0 0.001368 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364156 23364156 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:23364156G>T uc002dln.2 + 3 522 c.346G>T c.(346-348)GAT>TAT p.D116Y NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 116 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GAAGGACCTGGATGAGCTGAT 0.502 NA 26 42 1.42536e-11 2.10331e-11 0.004656 1 0 ARHGAP17 55114 broad.mit.edu 37 16 24981854 24981854 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:24981854C>A uc002dnb.2 - 4 339 c.246G>T c.(244-246)TCG>TCT p.S82S ARHGAP17_uc002dnc.2_Silent_p.S82S|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_5'Flank|ARHGAP17_uc002dng.1_Silent_p.S82S NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 82 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CCAGCTGAGTCGATGCTTCTT 0.463 NA 55 156 5.86059e-21 1.0325e-20 0.00361 1 0 KIAA0556 23247 broad.mit.edu 37 16 27751579 27751579 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:27751579A>G uc002dow.2 + 15 1985 c.1961A>G c.(1960-1962)GAG>GGG p.E654G NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 654 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GGGGACAAGGAGCTTGGTCTC 0.507 NA 9 48 0 0 0.006214 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761018 27761018 + Missense_Mutation SNP C C T rs150681595 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:27761018C>T uc002dow.2 + 16 2761 c.2737C>T c.(2737-2739)CGC>TGC p.R913C NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 913 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CCACCGGGGACGCATCTCCAA 0.642 NA 26 44 0 0 0.008361 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29889672 29889672 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:29889672C>A uc002duq.3 - 10 1888 c.1648G>T c.(1648-1650)GGC>TGC p.G550C uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G480C|SEZ6L2_uc002dur.3_Missense_Mutation_p.G480C|SEZ6L2_uc002dus.3_Missense_Mutation_p.G436C|SEZ6L2_uc010vec.1_Missense_Mutation_p.G550C|SEZ6L2_uc010ved.1_Missense_Mutation_p.G506C NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 550 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CAGTCTTGGCCCGGGCTATAG 0.602 NA 9 32 7.03913e-09 9.4449e-09 0.001368 1 0 FBXL19 54620 broad.mit.edu 37 16 30941500 30941500 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:30941500G>T uc002eab.2 + 7 1114 c.956G>T c.(955-957)CGG>CTG p.R319L FBXL19_uc002dzz.1_Missense_Mutation_p.R7L|FBXL19_uc002eaa.1_Missense_Mutation_p.R218L NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 319 DNA binding|zinc ion binding ovary(2)|lung(1)|breast(1) 4 CTGCTGGAACGGGTGCCTGAC 0.657 NA 17 41 1.67942e-08 2.20605e-08 0.006122 1 0 ITGAD 3681 broad.mit.edu 37 16 31422671 31422671 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:31422671G>T uc002ebv.1 + 14 1589 c.1540G>T c.(1540-1542)GGC>TGC p.G514C ITGAD_uc010cap.1_Missense_Mutation_p.G515C NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 514 FG-GAP 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGGTGAGCAGGGCCACCCCTG 0.627 NA 43 97 1.68508e-10 2.37105e-10 0.009718 1 0 SLC5A2 6524 broad.mit.edu 37 16 31500068 31500068 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:31500068G>A uc002ecf.3 + 10 1274 c.1255G>A c.(1255-1257)GAC>AAC p.D419N SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 419 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 ACGCGCCGGCGACCGCGAGCT 0.711 NA 10 14 0 0 0.008291 0 0 FAM101B 359845 broad.mit.edu 37 17 293213 293213 + Silent SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:293213C>G uc002frj.2 - 2 451 c.177G>C c.(175-177)GCG>GCC p.A59A NM_182705 NP_874364 Q8N5W9 F101B_HUMAN hypothetical protein LOC359845 129 0 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) AGGAGGCCACCGCCAGGCCCA 0.662 NA 24 26 0 0 0.003954 0 0 TP53 7157 broad.mit.edu 37 17 7577565 7577565 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:7577565T>C uc002gim.2 - 7 910 c.716A>G c.(715-717)AAC>AGC p.N239S TP53_uc002gig.1_Missense_Mutation_p.N239S|TP53_uc002gih.2_Missense_Mutation_p.N239S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.N107S|TP53_uc010cng.1_Missense_Mutation_p.N107S|TP53_uc002gii.1_Missense_Mutation_p.N107S|TP53_uc010cnh.1_Missense_Mutation_p.N239S|TP53_uc010cni.1_Missense_Mutation_p.N239S|TP53_uc002gij.2_Missense_Mutation_p.N239S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.N146S|TP53_uc002gio.2_Missense_Mutation_p.N107S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 239 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). N -> Y (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (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.N239D(31)|p.N239S(19)|p.N239fs*25(12)|p.0?(7)|p.N239Y(6)|p.N239K(6)|p.N239T(4)|p.N239_C242delNSSC(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M237_N239delMCN(1)|p.N239fs*26(1)|p.C238fs*21(1)|p.N239N(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*0(1)|p.N239_C242del(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) GCAGGAACTGTTACACATGTA 0.572 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 11 0 0 0.004482 0 0 C17orf59 54785 broad.mit.edu 37 17 8092736 8092736 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:8092736G>A uc010vut.1 - 1 829 c.723C>T c.(721-723)CCC>CCT p.P241P NM_017622 NP_060092 Q96GS4 CQ059_HUMAN hypothetical protein LOC54785 241 Pro-rich. 0 GCGCTGGGCAGGGCCGCGCAG 0.701 NA 9 2 0 0 0.004482 0 0 RAI1 10743 broad.mit.edu 37 17 17701461 17701461 + Silent SNP G G T rs146112263 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:17701461G>T uc002grm.2 + 3 5668 c.5199G>T c.(5197-5199)TCG>TCT p.S1733S RAI1_uc002grn.1_Silent_p.S1733S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1733 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) AGGAGGCCTCGCTGCCGCTTG 0.642 NA 13 29 7.03913e-09 9.4449e-09 0.001368 1 0 CYTSB 92521 broad.mit.edu 37 17 20000015 20000015 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:20000015C>T uc002gwq.2 + 2 196 c.51C>T c.(49-51)CAC>CAT p.H17H CYTSB_uc010cqx.2_Silent_p.H17H|CYTSB_uc002gwr.2_Silent_p.H17H|CYTSB_uc002gws.2_Silent_p.H17H NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 17 nucleus 0 CAGGGGGCCACGGCCCAGACC 0.567 NA 8 120 0 0 0.00308 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319719 21319719 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:21319719C>A uc002gyv.1 + 3 1770 c.1065C>A c.(1063-1065)CCC>CCA p.P355P NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 355 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCTCTACGCCCCGCTGCAGTG 0.577 NA Prostate(3;0.18) 15 68 2.32078e-09 3.18108e-09 0.003163 1 0 EFCAB5 374786 broad.mit.edu 37 17 28380557 28380557 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:28380557G>T uc002het.2 + 10 1777 c.1585G>T c.(1585-1587)GGC>TGC p.G529C EFCAB5_uc010wbi.1_Missense_Mutation_p.G272C|EFCAB5_uc010wbj.1_Missense_Mutation_p.G473C|EFCAB5_uc010wbk.1_Missense_Mutation_p.G186C|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.G408C|EFCAB5_uc010csf.2_Missense_Mutation_p.G408C NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 529 calcium ion binding ovary(1)|skin(1) 2 ACAACAACAAGGCAAAAAGCC 0.428 NA 10 23 6.40141e-05 7.47027e-05 0.000978 1 0 SLFN11 91607 broad.mit.edu 37 17 33690157 33690157 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:33690157G>T uc010ctp.2 - 4 1112 c.670C>A c.(670-672)CAA>AAA p.Q224K SLFN11_uc010ctq.2_Missense_Mutation_p.Q224K|SLFN11_uc002hjh.3_Missense_Mutation_p.Q224K|SLFN11_uc002hjg.3_Missense_Mutation_p.Q224K|SLFN11_uc010ctr.2_Missense_Mutation_p.Q224K NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 224 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACATATTCTTGGAAGTGTTTT 0.373 NA 38 101 2.87052e-16 4.72966e-16 0.005524 1 0 KRT39 390792 broad.mit.edu 37 17 39119941 39119941 + Missense_Mutation SNP G G T rs145339869 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:39119941G>T uc002hvo.1 - 3 682 c.646C>A c.(646-648)CTA>ATA p.L216I KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 216 Rod.|Coil 1B. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) TGTGCCTCTAGGTCGGCCTTG 0.498 NA 20 65 1.55795e-14 2.45869e-14 0.001882 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:39254054A>T uc010wfo.1 - 1 322 c.283T>A c.(283-285)TGC>AGC p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15. keratin filament 0 ctggagatgcagcagcTAGGG 0.318 NA 5 28 0 0 0.000602 0 0 HAP1 9001 broad.mit.edu 37 17 39888998 39888998 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:39888998G>T uc002hxm.1 - 2 534 c.522C>A c.(520-522)GTC>GTA p.V174V JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.V174V|HAP1_uc002hxo.1_Silent_p.V174V|HAP1_uc002hxp.1_Silent_p.V174V NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 174 HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACATCACTTTGACGTCTTCCT 0.522 NA 19 58 5.03518e-11 7.27813e-11 0.007413 1 0 STAT5B 6777 broad.mit.edu 37 17 40364013 40364013 + Nonsense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:40364013G>A uc002hzh.2 - 13 1838 c.1669C>T c.(1669-1671)CAG>TAG p.Q557* NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 557 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CTGTTGAACTGGGACCAGGAC 0.587 NA 4 10 0 0 0.009096 0 0 MAP3K14 9020 broad.mit.edu 37 17 43368045 43368045 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:43368045G>A uc002iiw.1 - 2 176 c.67C>T c.(67-69)CCC>TCC p.P23S MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 23 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 TTGGCTTTGGGGAGTTCCTTC 0.592 NA 14 27 0 0 0.004007 0 0 OSBPL7 114881 broad.mit.edu 37 17 45895647 45895647 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:45895647G>A uc002ilx.1 - 7 789 c.586C>T c.(586-588)CGC>TGC p.R196C OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 196 lipid transport lipid binding 0 TGAGAGCAGCGGTCCAGCCCA 0.622 NA 16 51 0 0 0.006122 0 0 HOXB3 3213 broad.mit.edu 37 17 46628425 46628425 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:46628425C>A uc002inn.2 - 2 967 c.567G>T c.(565-567)AAG>AAT p.K189N HOXB3_uc010wlm.1_Missense_Mutation_p.K116N|HOXB3_uc010dbf.2_Missense_Mutation_p.K189N|HOXB3_uc010dbg.2_Missense_Mutation_p.K189N|HOXB3_uc002ino.2_Missense_Mutation_p.K189N|HOXB3_uc010wlk.1_Missense_Mutation_p.K57N|HOXB3_uc010wll.1_Missense_Mutation_p.K116N NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 189 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCCGCGCCCGCTTGGACGCCG 0.478 NA 14 56 9.16793e-09 1.21223e-08 0.00499 1 0 KIF2B 84643 broad.mit.edu 37 17 51900813 51900813 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:51900813G>C uc002iua.2 + 1 575 c.419G>C c.(418-420)TGT>TCT p.C140S uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 140 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGCAAACCTTGTCTGATGAAG 0.572 NA 23 56 0 0 0.00278 0 0 TRIM25 7706 broad.mit.edu 37 17 54969341 54969341 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:54969341G>A uc002iut.2 - 9 1673 c.1613C>T c.(1612-1614)CCA>CTA p.P538L TRIM25_uc010dcj.2_Missense_Mutation_p.P330L NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 538 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) CCTGCTTTCTGGGCCCTGCCG 0.582 NA 30 75 0 0 0.002445 0 0 C17orf47 284083 broad.mit.edu 37 17 56620524 56620524 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:56620524G>T uc002iwq.1 - 1 1160 c.1024C>A c.(1024-1026)CAG>AAG p.Q342K SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 342 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCTACTGACTGTACCCCTGGG 0.532 NA 8 34 0.00307968 0.00331979 0.00308 1 0 TBX4 9496 broad.mit.edu 37 17 59560841 59560841 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:59560841A>T uc002izi.2 + 8 1647 c.1602A>T c.(1600-1602)TCA>TCT p.S534S TBX4_uc010ddo.2_Silent_p.S535S|TBX4_uc010woy.1_Silent_p.S535S NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 534 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 AGTACCATTCAGGAATGGGGA 0.527 NA 18 27 0 0 0.007413 0 0 MRC2 9902 broad.mit.edu 37 17 60743900 60743900 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:60743900G>T uc002jad.2 + 4 1181 c.779G>T c.(778-780)AGG>ATG p.R260M MRC2_uc002jac.2_Missense_Mutation_p.R260M NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 260 Extracellular (Potential).|C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTGTCGTGGAGGGAGGCCTGG 0.617 NA 5 15 0.00198382 0.00216046 0.001984 1 0 DNAI2 64446 broad.mit.edu 37 17 72277987 72277987 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:72277987C>A uc002jkf.2 + 2 130 c.31C>A c.(31-33)CGC>AGC p.R11S DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 11 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CGTCAAGAAGCGCAGCGAGTT 0.632 NA Kartagener_syndrome 18 42 1.45105e-14 2.30142e-14 0.006122 1 0 GRB2 2885 broad.mit.edu 37 17 73316501 73316501 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:73316501T>A uc002jnx.3 - 6 959 c.602A>T c.(601-603)CAG>CTG p.Q201L GRB2_uc002jny.3_Missense_Mutation_p.Q160L NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 201 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) CATGCCGGTCTGCCCGTGGCA 0.493 NA 41 131 0 0 0.002852 0 0 SLC16A3 9123 broad.mit.edu 37 17 80194624 80194624 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:80194624C>A uc002kea.2 + 3 382 c.243C>A c.(241-243)TGC>TGA p.C81* SLC16A3_uc002kee.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002keb.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002kec.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002ked.2_Nonsense_Mutation_p.C81* NM_001042422 NP_001035887 O15427 MOT4_HUMAN solute carrier family 16, member 3 81 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity upper_aerodigestive_tract(1)|lung(1) 2 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) GCAGTGTGTGCGTGAACCGCT 0.667 Pancreas(52;652 1135 19190 37282 52456) NA OREG0024821 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 46 7.87624e-14 1.22178e-13 0.00278 1 0 CSNK1D 1453 broad.mit.edu 37 17 80213371 80213371 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:80213371C>A uc002kej.2 - 3 586 c.270G>T c.(268-270)GAG>GAT p.E90D SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.E90D|CSNK1D_uc002kei.2_Missense_Mutation_p.E90D|CSNK1D_uc010wvj.1_Translation_Start_Site|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 90 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) TGAAGAGGTCCTCCAGGCTTG 0.547 NA 24 50 6.32553e-13 9.53326e-13 0.004656 1 0 DLGAP1 9229 broad.mit.edu 37 18 3502601 3502601 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:3502601C>A uc002kmf.2 - 9 2681 c.2614G>T c.(2614-2616)GGG>TGG p.G872W DLGAP1_uc010wyz.1_Missense_Mutation_p.G872W|DLGAP1_uc002kme.1_Missense_Mutation_p.G570W|DLGAP1_uc010dkn.2_Missense_Mutation_p.G580W|DLGAP1_uc010wyw.1_Missense_Mutation_p.G578W|DLGAP1_uc010wyx.1_Missense_Mutation_p.G594W|DLGAP1_uc010wyy.1_Missense_Mutation_p.G556W|DLGAP1_uc002kmg.2_Missense_Mutation_p.G570W NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 872 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TCCCAAAACCCCGCCAAATCC 0.408 NA 22 41 1.1804e-14 1.88626e-14 0.003954 1 0 C18orf34 374864 broad.mit.edu 37 18 30950088 30950088 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:30950088G>T uc002kxn.2 - 5 416 c.274C>A c.(274-276)CCA>ACA p.P92T C18orf34_uc010xbr.1_Missense_Mutation_p.P92T|C18orf34_uc010dmf.1_Missense_Mutation_p.P92T|C18orf34_uc002kxo.2_Missense_Mutation_p.P92T|C18orf34_uc002kxp.2_Missense_Mutation_p.P92T NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 92 ovary(1) 1 CAAGGTGCTGGAATATTTACT 0.378 NA 19 19 2.37509e-13 3.6399e-13 0.010504 1 0 SKA1 220134 broad.mit.edu 37 18 47908532 47908532 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:47908532G>T uc002let.2 + 4 431 c.247G>T c.(247-249)GAC>TAC p.D83Y SKA1_uc002leu.2_Missense_Mutation_p.D83Y|SKA1_uc010xdl.1_Missense_Mutation_p.D83Y NM_145060 NP_659497 Q96BD8 SKA1_HUMAN spindle and KT associated 1 83 Potential. cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 AGATTACAAAGACATAGAACA 0.343 NA 5 16 2.0095e-06 2.44367e-06 0.001984 1 0 TCF4 6925 broad.mit.edu 37 18 52896228 52896228 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:52896228C>A uc002lfz.2 - 18 2329 c.1717G>T c.(1717-1719)GAG>TAG p.E573* TCF4_uc002lfw.3_Nonsense_Mutation_p.E417*|TCF4_uc010xdu.1_Nonsense_Mutation_p.E443*|TCF4_uc010xdv.1_Nonsense_Mutation_p.E443*|TCF4_uc002lfx.2_Nonsense_Mutation_p.E506*|TCF4_uc010xdw.1_Nonsense_Mutation_p.E443*|TCF4_uc002lfy.2_Nonsense_Mutation_p.E531*|TCF4_uc010xdx.1_Nonsense_Mutation_p.E549*|TCF4_uc010dph.1_Nonsense_Mutation_p.E577*|TCF4_uc010xdy.1_Nonsense_Mutation_p.E553*|TCF4_uc002lga.2_Nonsense_Mutation_p.E679*|TCF4_uc002lgb.1_Nonsense_Mutation_p.E413*|TCF4_uc010dpi.2_Nonsense_Mutation_p.E583*|TCF4_uc002lfv.2_Nonsense_Mutation_p.E356* NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 573 Basic motif. 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) CGCAGACGCTCTCGGGCATTG 0.572 NA 38 40 7.53189e-24 1.36865e-23 0.007835 1 0 WDR7 23335 broad.mit.edu 37 18 54363593 54363593 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:54363593C>T uc002lgk.1 + 12 1689 c.1478C>T c.(1477-1479)TCA>TTA p.S493L WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Missense_Mutation_p.S493L NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 493 WD 6. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GTGGATTTTTCAGTCATAATT 0.403 NA 4 57 0 0 0.000602 0 0 CDH19 28513 broad.mit.edu 37 18 64212068 64212068 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr18:64212068T>C uc002lkc.1 - 6 986 c.848A>G c.(847-849)AAT>AGT p.N283S CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.N283S|CDH19_uc002lkd.2_Missense_Mutation_p.N283S NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 283 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TCCTATGTCATTATCATATGC 0.358 NA 9 15 0 0 0.004482 0 0 MATK 4145 broad.mit.edu 37 19 3784122 3784122 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:3784122G>A uc002lyt.2 - 5 762 c.362C>T c.(361-363)CCG>CTG p.P121L MATK_uc002lyv.2_Missense_Mutation_p.P122L|MATK_uc002lyu.2_Missense_Mutation_p.P80L|MATK_uc010dtq.2_Missense_Mutation_p.P121L NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 121 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCACTCACGGCATGAGGCT 0.701 NA 8 12 0 0 0.008291 0 0 SEMA6B 10501 broad.mit.edu 37 19 4558098 4558098 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:4558098G>A uc010duc.1 - 2 223 c.185C>T c.(184-186)GCT>GTT p.A62V SEMA6B_uc010dud.2_Missense_Mutation_p.A62V|SEMA6B_uc010xih.1_Missense_Mutation_p.A62V NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 62 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGTCGTCAGCACCTTCTGC 0.527 NA 4 5 0 0 0.000602 0 0 TUBB4 10382 broad.mit.edu 37 19 6495933 6495933 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:6495933C>G uc002mfg.1 - 4 684 c.577G>C c.(577-579)GTG>CTG p.V193L TUBB4_uc002mff.1_Missense_Mutation_p.V121L|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 193 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GTATTCTCCACCAGCTGGTGC 0.592 NA 29 57 0 0 0.007291 0 0 FBN3 84467 broad.mit.edu 37 19 8152944 8152944 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:8152944C>A uc002mjf.2 - 51 6517 c.6496G>T c.(6496-6498)GAC>TAC p.D2166Y FBN3_uc002mje.2_Missense_Mutation_p.D5Y NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2166 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AGAGTTGTACCCTCGCAGGTC 0.642 NA 13 23 2.27111e-07 2.84897e-07 0.001368 1 0 MUC16 94025 broad.mit.edu 37 19 9047816 9047816 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:9047816T>A uc002mkp.2 - 5 34019 c.33815A>T c.(33814-33816)GAG>GTG p.E11272V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11274 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAGCTACTCTCTGCAGGATG 0.488 NA 8 8 0 0 0.00308 0 0 MUC16 94025 broad.mit.edu 37 19 9064152 9064152 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:9064152G>A uc002mkp.2 - 3 23498 c.23294C>T c.(23293-23295)GCC>GTC p.A7765V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7767 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGATGCACGGCTTCTGTATG 0.488 NA 70 81 0 0 0.00361 0 0 ZNF177 7730 broad.mit.edu 37 19 9492374 9492374 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:9492374A>T uc002mli.2 + 12 1550 c.887A>T c.(886-888)CAG>CTG p.Q296L ZNF177_uc002mlj.2_Missense_Mutation_p.Q246L|ZNF177_uc002mlk.2_Missense_Mutation_p.Q296L NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 296 C2H2-type 7. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAATGTATTCAGTGTGAAAAA 0.428 NA 45 57 0 0 0.002852 0 0 ZNF257 113835 broad.mit.edu 37 19 22270783 22270783 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:22270783G>T uc010ecx.2 + 4 400 c.231G>T c.(229-231)ATG>ATT p.M77I ZNF257_uc010ecy.2_Missense_Mutation_p.M45I NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTTAGTTATGTGTTCTCATA 0.294 NA 9 24 5.68852e-11 8.20386e-11 0.004482 1 0 ZNF536 9745 broad.mit.edu 37 19 31038886 31038886 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:31038886C>A uc002nsu.1 + 4 2498 c.2360C>A c.(2359-2361)GCC>GAC p.A787D ZNF536_uc010edd.1_Missense_Mutation_p.A787D NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 787 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A787A(1) ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGTGACTATGCCGGCACGCAG 0.512 NA 36 233 4.0492e-12 6.03113e-12 0.006999 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770398 31770398 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:31770398C>A uc002nsy.3 - 2 366 c.301G>T c.(301-303)GAG>TAG p.E101* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 101 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) ACCGTGACCTCCTTGGTCTCC 0.532 NA 144 40 2.909e-70 5.5393e-70 0.00361 1 0 HAUS5 23354 broad.mit.edu 37 19 36109807 36109807 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:36109807G>T uc002oam.1 + 13 1086 c.1035G>T c.(1033-1035)GGG>GGT p.G345G NM_015302 NP_056117 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 345 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle 0 TGATACTGGGGCTTCGGCGCT 0.617 NA 31 42 2.80507e-11 4.10121e-11 0.002445 1 0 RBM42 79171 broad.mit.edu 37 19 36120454 36120454 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:36120454C>G uc002oan.2 + 2 237 c.161C>G c.(160-162)CCT>CGT p.P54R RBM42_uc010xsx.1_Missense_Mutation_p.P54R|RBM42_uc010eef.2_Missense_Mutation_p.P54R|RBM42_uc002oao.2_Missense_Mutation_p.P54R|RBM42_uc002oap.2_Missense_Mutation_p.P54R|RBM42_uc002oaq.2_Missense_Mutation_p.P54R|RBM42_uc010eeg.2_Missense_Mutation_p.P54R NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 54 cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTCCAGTACCTGGAATCCCA 0.577 NA 36 65 0 0 0.004289 0 0 ZFP14 57677 broad.mit.edu 37 19 36831324 36831324 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:36831324G>A uc002odx.1 - 4 1497 c.1404C>T c.(1402-1404)ACC>ACT p.T468T ZFP14_uc010xtd.1_Silent_p.T469T|ZFP14_uc010eex.1_Silent_p.T468T NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 468 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TCTGATGTTGGGTAAGTTGTG 0.373 NA 50 63 0 0 0.00361 0 0 ZNF345 25850 broad.mit.edu 37 19 37367788 37367788 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:37367788A>G uc002oex.2 + 3 434 c.56A>G c.(55-57)GAA>GGA p.E19G ZNF345_uc002oey.3_Missense_Mutation_p.E19G|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 19 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGATTGGGAATGTAAAAAC 0.368 NA 34 82 0 0 0.002836 0 0 ZNF829 374899 broad.mit.edu 37 19 37383322 37383322 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:37383322A>T uc002ofa.1 - 6 733 c.371T>A c.(370-372)TTC>TAC p.F124Y ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACTTGACTGAAATGTCTCTT 0.338 NA 6 71 0 0 0.001168 0 0 ZNF568 374900 broad.mit.edu 37 19 37440956 37440956 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:37440956A>C uc002ofc.2 + 7 1416 c.901A>C c.(901-903)ACT>CCT p.T301P ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.T225P|ZNF568_uc010efe.2_Missense_Mutation_p.T225P|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGAATTCATACTGGGGAGAA 0.378 NA 31 42 0 0 0.002096 0 0 ZNF569 148266 broad.mit.edu 37 19 37904566 37904566 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:37904566C>A uc002ogi.2 - 6 1552 c.994G>T c.(994-996)GGT>TGT p.G332C ZNF569_uc002ogh.2_Missense_Mutation_p.G173C|ZNF569_uc002ogj.2_Missense_Mutation_p.G356C NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 332 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGCTTTACCACATTCATTA 0.398 NA 86 152 2.18481e-45 4.13553e-45 0.00361 1 0 RYR1 6261 broad.mit.edu 37 19 38959634 38959634 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:38959634C>A uc002oit.2 + 26 3540 c.3410C>A c.(3409-3411)CCA>CAA p.P1137Q RYR1_uc002oiu.2_Missense_Mutation_p.P1137Q NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1137 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCAGTGAACCATTTGGGCGC 0.567 NA 20 34 1.00905e-13 1.55766e-13 0.008871 1 0 RYR1 6261 broad.mit.edu 37 19 38980787 38980787 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:38980787G>T uc002oit.2 + 36 6016 c.5886G>T c.(5884-5886)GCG>GCT p.A1962A RYR1_uc002oiu.2_Silent_p.A1962A NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1962 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAGCCTTTGCGGAGCGCTATG 0.592 NA 25 39 7.88262e-20 1.36232e-19 0.00333 1 0 RYR1 6261 broad.mit.edu 37 19 39008322 39008322 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:39008322C>T uc002oit.2 + 66 10139 c.10009C>T c.(10009-10011)CGG>TGG p.R3337W RYR1_uc002oiu.2_Missense_Mutation_p.R3337W|RYR1_uc002oiv.1_Missense_Mutation_p.R257W|RYR1_uc010xuf.1_Missense_Mutation_p.R257W NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3337 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGGATGAAGCGGCTGGCTGG 0.622 NA 6 40 0 0 0.00308 0 0 MAP4K1 11184 broad.mit.edu 37 19 39101766 39101766 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:39101766A>T uc002oix.1 - 11 843 c.735T>A c.(733-735)GCT>GCA p.A245A MAP4K1_uc002oiy.1_Silent_p.A245A|MAP4K1_uc010xug.1_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 245 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGGAAGGCAGCCGACCTTG 0.582 NA 9 30 0 0 0.004482 0 0 TRPM4 54795 broad.mit.edu 37 19 49693476 49693476 + Silent SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:49693476A>C uc002pmw.2 + 15 2103 c.2031A>C c.(2029-2031)ACA>ACC p.T677T TRPM4_uc010emu.2_Silent_p.T677T|TRPM4_uc010yak.1_Silent_p.T141T|TRPM4_uc002pmx.2_Silent_p.T503T|TRPM4_uc010emv.2_Silent_p.T562T|TRPM4_uc010yal.1_Silent_p.T323T|TRPM4_uc002pmy.2_Silent_p.T19T NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 677 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) CTCTGCTGACACAGAAGTGGT 0.587 NA 125 106 0 0 0.00361 0 0 ZNF432 9668 broad.mit.edu 37 19 52538395 52538395 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:52538395G>A uc002pyk.2 - 5 855 c.537C>T c.(535-537)TTC>TTT p.F179F NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TACTTACAGAGAATTTAGCTG 0.348 NA 3 85 0 0 0.004672 0 0 ZNF836 162962 broad.mit.edu 37 19 52659499 52659499 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:52659499G>A uc010ydi.1 - 5 1811 c.1437C>T c.(1435-1437)TTC>TTT p.F479F ZNF836_uc010ydj.1_Silent_p.F479F NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 479 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGTCTGACTGAAGACCTTGC 0.428 NA 54 54 0 0 0.00361 0 0 ZNF761 388561 broad.mit.edu 37 19 53958705 53958705 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:53958705G>A uc010eqp.2 + 7 1402 c.944G>A c.(943-945)AGA>AAA p.R315K ZNF761_uc010ydy.1_Missense_Mutation_p.R261K|ZNF761_uc002qbt.1_Missense_Mutation_p.R261K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 315 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ATACTTGAAAGACATAGGATA 0.383 NA 14 112 0 0 0.003163 0 0 VSTM1 284415 broad.mit.edu 37 19 54561767 54561767 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:54561767G>T uc002qcw.3 - 3 324 c.148C>A c.(148-150)CAG>AAG p.Q50K VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.Q50K NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 50 Ig-like V-type. integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GAATGAGCCTGACACTTCAGG 0.532 NA 12 91 1.5842e-08 2.08603e-08 0.001855 1 0 LILRA2 11027 broad.mit.edu 37 19 55086909 55086909 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:55086909C>T uc002qgg.3 + 5 931 c.842C>T c.(841-843)ACC>ATC p.T281I LILRA2_uc010ern.2_Missense_Mutation_p.T281I|LILRA2_uc002qgf.2_Missense_Mutation_p.T281I|LILRA2_uc010yfe.1_Missense_Mutation_p.T281I|LILRA2_uc010yff.1_Missense_Mutation_p.T269I|LILRA2_uc010ero.2_Missense_Mutation_p.T269I|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 281 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GCCAACTTCACCCTGGGCCCT 0.632 NA 30 39 0 0 0.002836 0 0 ISOC2 79763 broad.mit.edu 37 19 55967071 55967071 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:55967071C>A uc002qlb.2 - 3 454 c.280G>T c.(280-282)GAG>TAG p.E94* ISOC2_uc002qla.2_Nonsense_Mutation_p.E94*|ISOC2_uc002qlc.2_Intron NM_001136201 NP_001129673 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 isoform 1 94 protein destabilization mitochondrion|nucleus catalytic activity|protein binding ovary(1) 1 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) CTGTCCAGCTCCTGCTGCAGG 0.672 NA 8 8 0.000157383 0.000180353 0.00308 1 0 ZIM3 114026 broad.mit.edu 37 19 57646434 57646434 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:57646434C>A uc002qnz.1 - 5 1657 c.1271G>T c.(1270-1272)TGT>TTT p.C424F NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 424 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTTTTTCCACATTCACTACA 0.388 NA 19 180 2.35188e-11 3.4545e-11 0.006122 1 0 ZNF211 10520 broad.mit.edu 37 19 58152597 58152597 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:58152597A>T uc002qpq.2 + 3 923 c.743A>T c.(742-744)CAG>CTG p.Q248L ZNF211_uc010yhb.1_Missense_Mutation_p.Q252L|ZNF211_uc002qpp.2_Missense_Mutation_p.Q261L|ZNF211_uc002qpr.2_Missense_Mutation_p.Q312L|ZNF211_uc002qps.2_Missense_Mutation_p.Q313L|ZNF211_uc002qpt.2_Missense_Mutation_p.Q260L|ZNF211_uc010yhc.1_Missense_Mutation_p.Q260L|ZNF211_uc010yhd.1_Missense_Mutation_p.Q187L|ZNF211_uc010yhe.1_Missense_Mutation_p.Q239L NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 248 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 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;0.026) GTTCAGGACCAGAGAATCCTC 0.443 NA 67 47 0 0 0.00361 0 0 ZNF154 7710 broad.mit.edu 37 19 58213094 58213094 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:58213094G>T uc010euf.2 - 3 1463 c.1223C>A c.(1222-1224)ACT>AAT p.T408N ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA NM_001085384 NP_001078853 Q13106 ZN154_HUMAN zinc finger protein 154 408 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|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;0.0257) CTTCTCCCCAGTGTGAACCCT 0.443 NA 36 31 4.4194e-11 6.41722e-11 0.002836 1 0 ZNF417 147687 broad.mit.edu 37 19 58420582 58420582 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:58420582C>A uc002qqq.2 - 3 1263 c.1064G>T c.(1063-1065)GGG>GTG p.G355V ZNF417_uc010yhm.1_Missense_Mutation_p.G312V|ZNF417_uc002qqr.2_Missense_Mutation_p.G354V NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 355 C2H2-type 6. 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) CCCACATTCCCCACAGTGATA 0.428 NA 84 89 8.61122e-29 1.59672e-28 0.00361 1 0 PXDN 7837 broad.mit.edu 37 2 1642638 1642638 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:1642638T>C uc002qxa.2 - 21 4250 c.4186A>G c.(4186-4188)ATC>GTC p.I1396V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1396 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGTCTGTGATGGTCTTCTGC 0.557 NA 10 34 0 0 0.00245 0 0 GRHL1 29841 broad.mit.edu 37 2 10102598 10102598 + Silent SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:10102598G>C uc002raa.2 + 5 855 c.684G>C c.(682-684)TCG>TCC p.S228S GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Silent_p.S77S NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 228 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCTTCCCCTCGGATCTCAGTC 0.383 NA 3 23 0 0 0.009096 0 0 APOB 338 broad.mit.edu 37 2 21233969 21233969 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:21233969G>T uc002red.2 - 26 5899 c.5771C>A c.(5770-5772)ACT>AAT p.T1924N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1924 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAGCTGCCCAGTATGTTCTCC 0.458 NA 52 128 1.39843e-22 2.52671e-22 0.00361 1 0 APOB 338 broad.mit.edu 37 2 21251356 21251356 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:21251356G>T uc002red.2 - 13 1800 c.1672C>A c.(1672-1674)CGA>AGA p.R558R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 558 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCAGCCAGTCGCTTATCTCCC 0.448 NA 40 77 2.24893e-16 3.72479e-16 0.009718 1 0 DNMT3A 1788 broad.mit.edu 37 2 25470539 25470539 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:25470539G>A uc002rgc.2 - 8 1192 c.935C>T c.(934-936)TCT>TTT p.S312F DNMT3A_uc002rgd.2_Missense_Mutation_p.S312F|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.S123F NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 312 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCCACCAAGACACAATGCG 0.632 NA Mis|F|N|S AML 19 38 0 0 0.001882 0 0 DTNB 1838 broad.mit.edu 37 2 25754371 25754371 + Silent SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:25754371T>C uc002rgh.2 - 9 1222 c.972A>G c.(970-972)CCA>CCG p.P324P DTNB_uc010yko.1_Silent_p.P267P|DTNB_uc010ykp.1_Silent_p.P120P|DTNB_uc002rgo.2_Silent_p.P145P|DTNB_uc002rgi.2_Silent_p.P324P|DTNB_uc002rgj.2_Silent_p.P324P|DTNB_uc002rgk.2_Silent_p.P324P|DTNB_uc002rgl.2_Silent_p.P324P|DTNB_uc002rgq.2_Silent_p.P324P|DTNB_uc002rgm.2_Silent_p.P324P|DTNB_uc002rgn.2_Silent_p.P120P|DTNB_uc002rgr.1_Silent_p.P313P|DTNB_uc010ykq.1_Silent_p.P177P NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 324 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGTTTCTCTGGTTGCTCAG 0.468 NA 24 77 0 0 0.005443 0 0 PLB1 151056 broad.mit.edu 37 2 28841261 28841261 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:28841261C>A uc002rmb.1 + 46 3310 c.3310C>A c.(3310-3312)CTG>ATG p.L1104M PLB1_uc010ezj.1_Missense_Mutation_p.L1093M|PLB1_uc002rme.1_Missense_Mutation_p.L69M|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1104 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GGGTGACTCTCTGACTGTGAG 0.597 NA 15 38 2.48551e-13 3.77275e-13 0.00499 1 0 XDH 7498 broad.mit.edu 37 2 31609340 31609340 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:31609340G>T uc002rnv.1 - 9 812 c.733C>A c.(733-735)CTG>ATG p.L245M NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 245 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGTCCAGCAGCTCCTTGAGG 0.607 Colon(66;682 1445 30109 40147) NA 19 38 1.33834e-09 1.83841e-09 0.007413 1 0 STRN 6801 broad.mit.edu 37 2 37111118 37111118 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:37111118G>T uc002rpn.2 - 9 1152 c.1143C>A c.(1141-1143)AGC>AGA p.S381R STRN_uc010ezx.2_Missense_Mutation_p.S344R NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 381 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GCCTGGAGCTGCTGGGTCTGG 0.408 NA 8 26 5.18039e-06 6.22822e-06 0.00308 1 0 ABCG8 64241 broad.mit.edu 37 2 44078951 44078951 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:44078951G>T uc002rtq.2 + 4 641 c.551G>T c.(550-552)CGT>CTT p.R184L ABCG8_uc010yoa.1_Missense_Mutation_p.R184L NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 184 ABC transporter.|Cytoplasmic (Potential). R -> H (in STSL). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAGGCCCAGCGTGACAAAAGG 0.622 NA 24 62 3.28513e-13 4.97462e-13 0.003954 1 0 RTN4 57142 broad.mit.edu 37 2 55252705 55252705 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:55252705C>A uc002rye.2 - 3 2828 c.2530G>T c.(2530-2532)GAC>TAC p.D844Y RTN4_uc002ryd.2_Missense_Mutation_p.D638Y|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 844 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 ATAAATAAGTCATCATTTGAA 0.348 NA 9 64 1.12685e-05 1.34461e-05 0.004482 1 0 SMEK2 57223 broad.mit.edu 37 2 55808792 55808792 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:55808792C>T uc002rzc.2 - 8 1651 c.1276G>A c.(1276-1278)GAT>AAT p.D426N SMEK2_uc002rzb.2_Missense_Mutation_p.D426N|SMEK2_uc002rzd.2_Missense_Mutation_p.D426N|SMEK2_uc002rza.2_Missense_Mutation_p.D302N NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 426 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGATCAGTATCACAGATCATT 0.338 NA 4 69 0 0 0.009096 0 0 BMP10 27302 broad.mit.edu 37 2 69093072 69093072 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:69093072G>A uc002sez.1 - 2 1125 c.966C>T c.(964-966)TAC>TAT p.Y322Y NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 322 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 TCCTCTTACAGTAGTTTCCTT 0.512 NA 15 30 0 0 0.003163 0 0 ZNF638 27332 broad.mit.edu 37 2 71632734 71632734 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:71632734G>T uc002shx.2 + 18 3281 c.2962G>T c.(2962-2964)GCT>TCT p.A988S ZNF638_uc010yqw.1_Missense_Mutation_p.A567S|ZNF638_uc002shy.2_Missense_Mutation_p.A988S|ZNF638_uc002shz.2_Missense_Mutation_p.A988S|ZNF638_uc002sia.2_Missense_Mutation_p.A988S|ZNF638_uc002sib.1_Missense_Mutation_p.A988S|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.A85S NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 988 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TTTTTAGGAAGCTATATTTAT 0.259 NA 16 36 2.94398e-08 3.82898e-08 0.007413 1 0 MOGS 7841 broad.mit.edu 37 2 74689728 74689728 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:74689728G>A uc010ffj.2 - 4 1351 c.1188C>T c.(1186-1188)AGC>AGT p.S396S MOGS_uc010ffh.2_Silent_p.S121S|MOGS_uc010yrt.1_Silent_p.S277S|MOGS_uc010ffi.2_Silent_p.S290S NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 396 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 CAAGGAGGCCGCTGAGGGCAG 0.582 NA 9 166 0 0 0.008291 0 0 DQX1 165545 broad.mit.edu 37 2 74751135 74751135 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:74751135C>T uc010yrw.1 - 4 896 c.731G>A c.(730-732)CGG>CAG p.R244Q DQX1_uc002smc.2_5'Flank NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 244 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 AGCTTCCACCCGATCAGGTGG 0.522 NA 4 50 0 0 0.009096 0 0 REG3G 130120 broad.mit.edu 37 2 79253232 79253232 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:79253232A>G uc002snw.2 + 2 98 c.13A>G c.(13-15)ATG>GTG p.M5V REG3G_uc002snx.2_Missense_Mutation_p.M5V|REG3G_uc010ffu.2_Missense_Mutation_p.M5V NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 5 acute-phase response extracellular region sugar binding 0 GCTGCCTCCCATGGCCCTGCC 0.542 NA 10 22 0 0 0.000978 0 0 ZNF2 7549 broad.mit.edu 37 2 95847613 95847613 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:95847613G>T uc002suf.2 + 6 1499 c.1037G>T c.(1036-1038)TGT>TTT p.C346F ZNF2_uc002sug.2_Missense_Mutation_p.C304F|ZNF2_uc010yue.1_Missense_Mutation_p.C309F|ZNF2_uc010fhs.2_Missense_Mutation_p.C267F NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 346 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGTAACGAGTGTGGCAAAGCT 0.488 NA 31 48 9.65021e-13 1.45095e-12 0.002096 1 0 ASTL 431705 broad.mit.edu 37 2 96789930 96789930 + Nonsense_Mutation SNP C C A rs147267731 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:96789930C>A uc010yui.1 - 9 955 c.955G>T c.(955-957)GAA>TAA p.E319* NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 319 proteolysis metalloendopeptidase activity|zinc ion binding 0 CTCCTGGATTCCGCCGACAGT 0.662 NA 12 29 7.93312e-07 9.79702e-07 0.00245 1 0 UXS1 80146 broad.mit.edu 37 2 106761802 106761803 + Missense_Mutation DNP CC CC AA TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:106761802_106761803CC>AA uc002tdm.2 - 6 398_399 c.300_301GG>TT c.(298-303)GTGGGC>GTTTGC p.G101C UXS1_uc002tdn.2_Missense_Mutation_p.G106C|UXS1_uc002tdo.2_Missense_Mutation_p.G44C|UXS1_uc010ywh.1_Intron NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 101 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 AGATGGGAGCCCACGAACCCTG 0.559 NA 10 20 0 0 0.004672 0 0 DPP10 57628 broad.mit.edu 37 2 116485391 116485391 + Splice_Site SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:116485391G>C uc002tla.1 + 8 1034 c.577_splice c.e8-1 p.I193_splice DPP10_uc002tlb.1_Splice_Site_p.I143_splice|DPP10_uc002tlc.1_Splice_Site_p.I189_splice|DPP10_uc002tle.2_Splice_Site_p.I197_splice|DPP10_uc002tlf.1_Splice_Site_p.I186_splice NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TCCTGATCCAGATTTATATTT 0.299 NA 12 24 0 0 0.00245 0 0 MARCO 8685 broad.mit.edu 37 2 119727764 119727765 + Missense_Mutation DNP CC CC AA TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:119727764_119727765CC>AA uc002tln.1 + 3 406_407 c.274_275CC>AA c.(274-276)CCG>AAG p.P92K MARCO_uc010yyf.1_Missense_Mutation_p.P14K NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 92 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TGAGGACAGCCCGTCCTTCTCC 0.614 GBM(8;18 374 7467 11269 32796) NA 12 40 0 0 0.004672 0 0 MKI67IP 84365 broad.mit.edu 37 2 122486106 122486106 + Nonsense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:122486106G>A uc002tnk.2 - 5 648 c.571C>T c.(571-573)CAG>TAG p.Q191* uc002tnj.1_RNA NM_032390 NP_115766 Q9BYG3 MK67I_HUMAN MKI67 interacting nucleolar phosphoprotein 191 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TCCGTTTTCTGTAAAATCTTT 0.279 NA 12 28 0 0 0.001855 0 0 LCT 3938 broad.mit.edu 37 2 136561527 136561527 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:136561527C>A uc002tuu.1 - 11 4647 c.4636G>T c.(4636-4638)GGC>TGC p.G1546C NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1546 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TAGCCATAGCCCTGGTAAGCA 0.498 NA 8 21 1.12685e-05 1.34461e-05 0.004482 1 0 LRP1B 53353 broad.mit.edu 37 2 141680663 141680663 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:141680663C>T uc002tvj.1 - 21 4162 c.3190G>A c.(3190-3192)GGT>AGT p.G1064S LRP1B_uc010fnl.1_Missense_Mutation_p.G246S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1064 Extracellular (Potential).|LDL-receptor class A 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACGCAATTACCATCAGGGTGG 0.443 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 15 48 0 0 0.00245 0 0 LRP1B 53353 broad.mit.edu 37 2 141986816 141986816 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:141986816G>C uc002tvj.1 - 6 1758 c.786C>G c.(784-786)ATC>ATG p.I262M LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 262 Extracellular (Potential).|LDL-receptor class B 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGTTATCTGGATACATTTGA 0.303 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 24 52 0 0 0.002299 0 0 GALNT3 2591 broad.mit.edu 37 2 166605329 166605329 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:166605329C>G uc010fph.1 - 11 2251 c.1864G>C c.(1864-1866)GAT>CAT p.D622H NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 622 Ricin B-type lectin.|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 TGGAGTGGATCTGATGGGTTG 0.333 NA 3 23 0 0 0.004672 0 0 LRP2 4036 broad.mit.edu 37 2 170002265 170002265 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:170002265T>C uc002ues.2 - 70 13193 c.12980A>G c.(12979-12981)AAT>AGT p.N4327S NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4327 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) ACCTGACTTATTGTATCTGAG 0.363 NA 19 43 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179449567 179449567 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:179449567C>T uc010zfg.1 - 259 57321 c.57097G>A c.(57097-57099)GAT>AAT p.D19033N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12728N|TTN_uc010zfi.1_Missense_Mutation_p.D12661N|TTN_uc010zfj.1_Missense_Mutation_p.D12536N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19960 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) CGGCTTACATCACACTTCTCC 0.507 NA 16 151 0 0 0.00499 0 0 MARS2 92935 broad.mit.edu 37 2 198571111 198571111 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:198571111G>T uc002uuq.2 + 1 1025 c.982G>T c.(982-984)GGC>TGC p.G328C uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 328 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) GTTAGGGGCCGGCATGAGCCC 0.537 NA 47 124 1.61863e-15 2.64639e-15 0.00361 1 0 MARS2 92935 broad.mit.edu 37 2 198571470 198571470 + Nonsense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:198571470T>A uc002uuq.2 + 1 1384 c.1341T>A c.(1339-1341)TAT>TAA p.Y447* uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 447 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) CAGAGGATTATGCTCTGGTGA 0.542 NA 29 75 0 0 0.00632 0 0 MAP2 4133 broad.mit.edu 37 2 210561338 210561338 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:210561338G>T uc002vde.1 + 8 4501 c.4253G>T c.(4252-4254)CGG>CTG p.R1418L MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1414L NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1418 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAGGAAGCTCGGAGATCATCT 0.393 Pancreas(27;423 979 28787 29963) NA 15 49 1.05317e-09 1.45612e-09 0.00245 1 0 ERBB4 2066 broad.mit.edu 37 2 212522507 212522507 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:212522507C>A uc002veg.1 - 16 2016 c.1918G>T c.(1918-1920)GGC>TGC p.G640C ERBB4_uc002veh.1_Missense_Mutation_p.G640C|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.G640C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 640 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGGAATGGCCCGTCCATGGG 0.428 NA TSP Lung(8;0.080) 15 40 2.61681e-11 3.83478e-11 0.00245 1 0 PTPRN 5798 broad.mit.edu 37 2 220162048 220162048 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:220162048G>T uc002vkz.2 - 14 2084 c.1995C>A c.(1993-1995)GCC>GCA p.A665A PTPRN_uc010zlc.1_Silent_p.A575A|PTPRN_uc002vla.2_Silent_p.A636A NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 665 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGCTGGCCTGGGCTGCGTCGC 0.652 NA 23 50 9.57634e-11 1.37175e-10 0.00333 1 0 SPEG 10290 broad.mit.edu 37 2 220344800 220344800 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:220344800A>T uc010fwg.2 + 25 5280 c.5280A>T c.(5278-5280)ACA>ACT p.T1760T NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1760 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGTATGGCACACCTGAGTTTG 0.607 NA 15 45 0 0 0.003163 0 0 SPEG 10290 broad.mit.edu 37 2 220354290 220354290 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:220354290G>A uc010fwg.2 + 36 8550 c.8550G>A c.(8548-8550)AGG>AGA p.R2850R NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2850 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GAAGACACAGGGGCCTGCAGG 0.657 NA 35 76 0 0 0.003755 0 0 SLC4A3 6508 broad.mit.edu 37 2 220494042 220494042 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:220494042G>T uc002vmp.3 + 4 663 c.394G>T c.(394-396)GCT>TCT p.A132S SLC4A3_uc002vmn.2_Missense_Mutation_p.A132S|SLC4A3_uc002vmo.3_Missense_Mutation_p.A132S|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 132 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGGGGGAGCTGGAGTgga 0.532 NA 9 21 0.000274275 0.000309838 0.004482 1 0 SLC19A3 80704 broad.mit.edu 37 2 228566913 228566913 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:228566913C>A uc002vpi.2 - 2 211 c.122G>T c.(121-123)GGA>GTA p.G41V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_5'UTR NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 41 Extracellular (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) TTTATCTGGTCCAGATAAATA 0.388 NA 33 75 1.57351e-24 2.88402e-24 0.003755 1 0 CHRND 1144 broad.mit.edu 37 2 233391331 233391331 + Nonsense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:233391331G>T uc002vsw.2 + 2 149 c.145G>T c.(145-147)GAG>TAG p.E49* CHRND_uc010zmg.1_Nonsense_Mutation_p.E49*|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 49 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCACACAAAGAGGAGAGTGT 0.642 NA 18 69 1.00905e-13 1.55766e-13 0.008871 1 0 UGT1A3 54659 broad.mit.edu 37 2 234637908 234637908 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:234637908G>C uc002vuy.2 + 1 136 c.136G>C c.(136-138)GAG>CAG p.E46Q UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.E46Q NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 46 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAGCATGCGGGAGGTCTTGCG 0.582 NA 14 36 0 0 0.004007 0 0 SPP2 6694 broad.mit.edu 37 2 234967486 234967486 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:234967486G>T uc002vvk.1 + 3 302 c.217G>T c.(217-219)GTC>TTC p.V73F SPP2_uc010fyl.1_5'UTR NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 73 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GAAGGTTGAGGTCCTAGATGA 0.388 NA 24 52 6.36457e-07 7.89058e-07 0.003954 1 0 C2orf85 285093 broad.mit.edu 37 2 242814381 242814382 + Missense_Mutation DNP CT CT AA TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:242814381_242814382CT>AA uc010fzu.1 + 2 697_698 c.674_675CT>AA c.(673-675)CCT>CAA p.P225Q NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 225 integral to membrane ovary(1) 1 CCTGCCCCCCCTGCGGGGGCCT 0.663 NA 14 25 0 0 0.004672 0 0 ATRN 8455 broad.mit.edu 37 20 3584857 3584857 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:3584857A>G uc002wim.2 + 24 3839 c.3749A>G c.(3748-3750)AAT>AGT p.N1250S ATRN_uc002wil.2_Missense_Mutation_p.N1250S NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 1250 Extracellular (Potential). inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 AACCACCCAAATATCACTTTC 0.393 NA 14 54 0 0 0.00245 0 0 ADAM33 80332 broad.mit.edu 37 20 3655206 3655206 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:3655206C>A uc002wit.2 - 6 632 c.545G>T c.(544-546)AGG>ATG p.R182M ADAM33_uc002wir.1_Missense_Mutation_p.R182M|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R182M|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R194M|ADAM33_uc010zqh.1_Missense_Mutation_p.R182M NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 182 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 CCCAGGATCCCTGTGGCCACA 0.597 NA 37 62 2.20474e-14 3.47082e-14 0.003755 1 0 ESF1 51575 broad.mit.edu 37 20 13755882 13755882 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:13755882C>A uc002woj.2 - 4 1178 c.1070G>T c.(1069-1071)TGG>TTG p.W357L ESF1_uc002wok.1_Missense_Mutation_p.W357L NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 TAATCTATCCCAGTCCATGTT 0.323 NA 19 66 2.54575e-18 4.30611e-18 0.010504 1 0 ADA 100 broad.mit.edu 37 20 43248977 43248977 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:43248977G>T uc002xmj.2 - 11 1169 c.1041C>A c.(1039-1041)CTC>CTA p.L347L ADA_uc010ggt.2_RNA NM_000022 NP_000013 P00813 ADA_HUMAN adenosine deaminase 347 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding pancreas(2)|ovary(1) 3 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) AGGCTTTATAGAGCAGGTCGA 0.512 NA Adenosine_Deaminase_Deficiency 21 48 1.10513e-12 1.6577e-12 0.002299 1 0 SLC2A10 81031 broad.mit.edu 37 20 45358045 45358045 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:45358045G>T uc002xsl.2 + 4 1562 c.1465G>T c.(1465-1467)GGC>TGC p.G489C NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 489 Helical; Name=12; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CGCTGTCCTCGGCCTGGGCTT 0.562 NA 16 32 1.3612e-06 1.66806e-06 0.003163 1 0 SLC2A10 81031 broad.mit.edu 37 20 45362406 45362406 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:45362406G>T uc002xsl.2 + 5 1656 c.1559G>T c.(1558-1560)AGC>ATC p.S520I NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 520 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TTCACCCTGAGCTTTGGCCAC 0.617 NA 12 52 7.03913e-09 9.4449e-09 0.001368 1 0 ZMYND8 23613 broad.mit.edu 37 20 45850047 45850047 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:45850047C>A uc002xta.1 - 20 3529 c.3275G>T c.(3274-3276)AGC>ATC p.S1092I ZMYND8_uc010ghq.1_Missense_Mutation_p.S723I|ZMYND8_uc010ghr.1_Missense_Mutation_p.S994I|ZMYND8_uc002xst.1_Missense_Mutation_p.S974I|ZMYND8_uc002xsu.1_Missense_Mutation_p.S965I|ZMYND8_uc002xsv.1_Missense_Mutation_p.S1020I|ZMYND8_uc002xsw.1_Missense_Mutation_p.S798I|ZMYND8_uc002xsx.1_Missense_Mutation_p.S798I|ZMYND8_uc002xsy.1_Missense_Mutation_p.S1021I|ZMYND8_uc002xsz.1_Missense_Mutation_p.S983I|ZMYND8_uc010zxy.1_Missense_Mutation_p.S1119I|ZMYND8_uc002xtb.1_Missense_Mutation_p.S1066I|ZMYND8_uc002xss.2_Missense_Mutation_p.S1092I|ZMYND8_uc010zxz.1_Missense_Mutation_p.S960I|ZMYND8_uc002xtc.1_Missense_Mutation_p.S1066I|ZMYND8_uc002xtd.1_Missense_Mutation_p.S1041I|ZMYND8_uc002xte.1_Missense_Mutation_p.S1046I|ZMYND8_uc010zya.1_Missense_Mutation_p.S1092I|ZMYND8_uc002xtf.1_Missense_Mutation_p.S1112I|ZMYND8_uc002xsr.1_Missense_Mutation_p.S191I NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1092 Poly-Ser. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TGATTGTGTGCTCGAGGAGCT 0.557 NA 18 41 2.48551e-13 3.77275e-13 0.00499 1 0 BMP7 655 broad.mit.edu 37 20 55803293 55803293 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:55803293G>A uc010gip.1 - 2 1132 c.603C>T c.(601-603)CAC>CAT p.H201H BMP7_uc010giq.1_Silent_p.H201H|BMP7_uc002xyc.2_Silent_p.H201H NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 201 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) ACCTGCCCAAGTGCTCCTGGA 0.572 NA 35 83 0 0 0.003755 0 0 C20orf85 128602 broad.mit.edu 37 20 56728599 56728599 + Splice_Site SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:56728599G>T uc002xyv.2 + 2 107 c.69_splice c.e2-1 p.W23_splice NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) TTCTTTTTCAGGAAATACCGT 0.478 NA 47 84 2.81731e-22 5.07594e-22 0.00361 1 0 GNAS 2778 broad.mit.edu 37 20 57429321 57429321 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:57429321G>T uc002xzw.2 + 1 1286 c.1001G>T c.(1000-1002)GGC>GTC p.G334V 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) GCGCTTGACGGCCCGCCCATC 0.642 Colon(117;935 1597 6045 8307 46442) 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) 3 6 0.00024832 0.000282021 0.009096 1 0 GNAS 2778 broad.mit.edu 37 20 57430039 57430039 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr20:57430039C>T uc002xzw.2 + 1 2004 c.1719C>T c.(1717-1719)GAC>GAT p.D573D 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) CCAGCAGCGACGATGACTCCA 0.687 Colon(117;935 1597 6045 8307 46442) 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 13 0 0 0.001984 0 0 NCAM2 4685 broad.mit.edu 37 21 22804541 22804541 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:22804541G>T uc002yld.1 + 12 1843 c.1594G>T c.(1594-1596)GTG>TTG p.V532L NCAM2_uc011acb.1_Missense_Mutation_p.V390L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 532 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCACTATCAGGTGGATGTCAA 0.443 NA 16 33 1.99824e-07 2.53668e-07 0.00499 1 0 APP 351 broad.mit.edu 37 21 27254054 27254054 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:27254054C>G uc002ylz.2 - 18 2440 c.2240G>C c.(2239-2241)CGC>CCC p.R747P APP_uc011acg.1_Missense_Mutation_p.R255P|APP_uc010glk.2_Missense_Mutation_p.R723P|APP_uc002yma.2_Missense_Mutation_p.R728P|APP_uc011ach.1_Missense_Mutation_p.R691P|APP_uc002ymb.2_Missense_Mutation_p.R672P|APP_uc010glj.2_Missense_Mutation_p.R616P|APP_uc011aci.1_Missense_Mutation_p.R637P NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 747 Cytoplasmic (Potential).|Interaction with G(o)-alpha. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) GGACAGGTGGCGCTCCTCTGG 0.478 NA OREG0026148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 62 0 0 0.010504 0 0 CLDN8 9073 broad.mit.edu 37 21 31588044 31588044 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:31588044T>C uc002ynu.1 - 1 275 c.200A>G c.(199-201)TAT>TGT p.Y67C NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 67 Extracellular (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 CAGGGAATCATAGATTTTGCA 0.488 NA 21 67 0 0 0.010504 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768427 31768427 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:31768427G>A uc002yoa.2 + 1 36 c.23G>A c.(22-24)GGA>GAA p.G8E NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 8 intermediate filament ovary(1) 1 TGCTGCTCTGGAAACTTCTCC 0.532 NA 16 93 0 0 0.00499 0 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914037 31914037 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:31914037T>C uc002yok.1 - 1 145 c.116A>G c.(115-117)TAT>TGT p.Y39C NM_181612 NP_853643 Q3LI70 KR196_HUMAN keratin associated protein 19-6 39 intermediate filament 0 GCCATATCTATAGCCTCCATA 0.498 NA 52 101 0 0 0.00361 0 0 GART 2618 broad.mit.edu 37 21 34889378 34889378 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:34889378G>A uc002yrx.2 - 16 2160 c.2025C>T c.(2023-2025)GTC>GTT p.V675V GART_uc002yrz.2_Silent_p.V675V|GART_uc010gmd.2_Silent_p.V337V|GART_uc002yry.2_Silent_p.V675V NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 675 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CAAAGGCTTTGACATGTCCTG 0.448 NA 29 79 0 0 0.009535 0 0 DOPEY2 9980 broad.mit.edu 37 21 37665644 37665644 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:37665644C>T uc002yvg.2 + 37 6751 c.6672C>T c.(6670-6672)ACC>ACT p.T2224T DOPEY2_uc011aeb.1_Silent_p.T2173T NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2224 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 ATGAGATCACCATGAAGAGTG 0.448 NA 3 63 0 0 0.004672 0 0 TTC3 7267 broad.mit.edu 37 21 38507791 38507791 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:38507791G>T uc002yvz.2 + 18 1660 c.1555G>T c.(1555-1557)GGT>TGT p.G519C TTC3_uc011aee.1_Missense_Mutation_p.G209C|TTC3_uc002ywa.2_Missense_Mutation_p.G519C|TTC3_uc002ywb.2_Missense_Mutation_p.G519C|TTC3_uc010gnf.2_Missense_Mutation_p.G284C|TTC3_uc002ywc.2_Missense_Mutation_p.G209C|TTC3_uc011aed.1_Missense_Mutation_p.G209C|TTC3_uc010gne.1_Missense_Mutation_p.G519C NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 519 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) GTTGCTGAACGGTTTAGATCC 0.403 Ovarian(38;194 1649 35661) NA 14 23 2.31682e-05 2.7287e-05 0.003163 1 0 TMPRSS2 7113 broad.mit.edu 37 21 42866466 42866466 + Nonsense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:42866466C>A uc002yzj.2 - 3 189 c.55G>T c.(55-57)GGA>TGA p.G19* TMPRSS2_uc010gor.2_Nonsense_Mutation_p.G56*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.G19* NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 19 Cytoplasmic (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GGTTGGTATCCATGGTTTTCA 0.483 NA T ERG|ETV1|ETV4|ETV5 prostate 9 29 0.000274275 0.000309838 0.004482 1 0 UMODL1 89766 broad.mit.edu 37 21 43531679 43531679 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:43531679C>T uc002zaf.1 + 12 1963 c.1963C>T c.(1963-1965)CAC>TAC p.H655Y UMODL1_uc002zad.1_Missense_Mutation_p.H583Y|UMODL1_uc002zae.1_Missense_Mutation_p.H711Y|UMODL1_uc002zag.1_Missense_Mutation_p.H783Y NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 655 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CCCCACCGGCCACTTCCTGTG 0.627 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 17 22 0 0 0.004007 0 0 POTEH 23784 broad.mit.edu 37 22 16287736 16287736 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:16287736G>T uc010gqp.2 - 1 202 c.150C>A c.(148-150)GAC>GAA p.D50E POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 50 skin(1) 1 TAGCAGAATCGTCGTGGTCTC 0.602 NA 5 163 1.5842e-08 2.08603e-08 0.001855 1 0 ZNF74 7625 broad.mit.edu 37 22 20761064 20761064 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:20761064G>T uc010gsm.2 + 6 1953 c.1741G>T c.(1741-1743)GGG>TGG p.G581W ZNF74_uc002zsg.2_Missense_Mutation_p.G510W|ZNF74_uc002zsh.2_Missense_Mutation_p.G581W|ZNF74_uc002zsi.2_Missense_Mutation_p.G510W|ZNF74_uc010gsn.2_Missense_Mutation_p.G510W NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 581 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCACAGCGAGGGGAAGCCCTT 0.353 NA 16 18 3.32936e-07 4.15191e-07 0.006122 1 0 GNAZ 2781 broad.mit.edu 37 22 23437951 23437951 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:23437951G>T uc002zwu.1 + 2 606 c.69G>T c.(67-69)CTG>CTT p.L23L RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 23 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) ACCGCCACCTGCGCTCAGAGA 0.602 NA 27 20 1.5548e-18 2.63694e-18 0.005443 1 0 OSM 5008 broad.mit.edu 37 22 30660402 30660402 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:30660402G>T uc003ahb.2 - 3 281 c.229C>A c.(229-231)CGC>AGC p.R77S NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 77 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) GCCCCGGGGCGCTCCCTGCAG 0.632 NA 7 17 8.12818e-05 9.43344e-05 0.001984 1 0 CSF2RB 1439 broad.mit.edu 37 22 37333941 37333941 + Missense_Mutation SNP G G A rs138676111 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:37333941G>A uc003aqa.3 + 14 2308 c.2091G>A c.(2089-2091)ATG>ATA p.M697I CSF2RB_uc003aqc.3_Missense_Mutation_p.M703I NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 697 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CTATACCCATGAGCTCTGGGG 0.627 NA 12 27 0 0 0.000978 0 0 NFAM1 150372 broad.mit.edu 37 22 42805469 42805469 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:42805469A>T uc003bcn.3 - 3 574 c.536T>A c.(535-537)GTG>GAG p.V179E NM_145912 NP_666017 Q8NET5 NFAM1_HUMAN NFAT activation molecule 1 precursor 179 Helical; (Potential). B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity 0 GGCCGTGCCCACTACACTCAG 0.657 NA 6 65 0 0 0.001984 0 0 GTSE1 51512 broad.mit.edu 37 22 46704833 46704833 + Missense_Mutation SNP C C A rs147669373 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr22:46704833C>A uc011aqy.1 + 4 967 c.755C>A c.(754-756)GCG>GAG p.A252E GTSE1_uc011aqz.1_Missense_Mutation_p.A99E NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 233 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCTGGGGCTGCGGAGAAGGTA 0.622 GBM(153;542 1915 12487 29016 50495) NA 3 32 0.00024832 0.000282021 0.009096 1 0 CHL1 10752 broad.mit.edu 37 3 440756 440756 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:440756T>A uc003bou.2 + 25 3533 c.3262T>A c.(3262-3264)TGT>AGT p.C1088S CHL1_uc003bot.2_Missense_Mutation_p.C1104S|CHL1_uc003bow.1_Missense_Mutation_p.C1088S|CHL1_uc011asi.1_Missense_Mutation_p.C1051S NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1088 Helical; (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGGACTGATGTGTGCGATTGC 0.368 NA 32 93 0 0 0.002836 0 0 PPARG 5468 broad.mit.edu 37 3 12475578 12475578 + Silent SNP C C A rs149367249 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:12475578C>A uc003bwx.2 + 7 1543 c.1452C>A c.(1450-1452)ATC>ATA p.I484I PPARG_uc003bwr.2_Silent_p.I456I|PPARG_uc003bws.2_Silent_p.I456I|PPARG_uc003bwu.2_Silent_p.I456I|PPARG_uc003bwv.2_3'UTR NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 484 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGCAGGTGATCAAGAAGACGG 0.517 NA T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 10 32 0.00621372 0.00661964 0.006214 1 0 C3orf20 84077 broad.mit.edu 37 3 14763190 14763190 + Nonsense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:14763190G>T uc003byy.2 + 10 1869 c.1465G>T c.(1465-1467)GGA>TGA p.G489* C3orf20_uc003byz.2_Nonsense_Mutation_p.G367*|C3orf20_uc003bza.2_Nonsense_Mutation_p.G367*|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 489 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AAAGGTACTGGGACAGGACTC 0.502 NA 38 69 2.09667e-21 3.71443e-21 0.003755 1 0 COLQ 8292 broad.mit.edu 37 3 15531040 15531040 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:15531040G>T uc003bzx.2 - 2 337 c.211C>A c.(211-213)CGA>AGA p.R71R HACL1_uc011avr.1_RNA|COLQ_uc003bzv.2_Silent_p.R61R|COLQ_uc003bzz.2_Silent_p.R71R|COLQ_uc010heo.2_Silent_p.R71R|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_5'UTR|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 71 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 ACCGGACTTCGGCCACCTCTG 0.582 NA 14 27 1.05317e-09 1.45612e-09 0.00245 1 0 ARPP21 10777 broad.mit.edu 37 3 35781039 35781039 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:35781039G>C uc003cgb.2 + 17 2139 c.1875G>C c.(1873-1875)CAG>CAC p.Q625H ARPP21_uc003cga.2_Missense_Mutation_p.Q606H|ARPP21_uc011axy.1_Missense_Mutation_p.Q626H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q461H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q148H NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 625 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CCTCACCACAGGGATTTGTGC 0.547 NA 5 33 0 0 0.001168 0 0 TRAK1 22906 broad.mit.edu 37 3 42226214 42226214 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:42226214A>T uc003cky.2 + 4 617 c.401A>T c.(400-402)CAG>CTG p.Q134L TRAK1_uc011azh.1_Missense_Mutation_p.Q134L|TRAK1_uc011azi.1_Missense_Mutation_p.Q134L|TRAK1_uc003ckz.3_Missense_Mutation_p.Q60L|TRAK1_uc011azj.1_Missense_Mutation_p.Q60L|TRAK1_uc003cla.2_Missense_Mutation_p.Q76L NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 134 Potential.|HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CGCATCGGCCAGTCGTTGTTG 0.512 GBM(44;195 884 22595 31865 41850) NA 39 78 0 0 0.005524 0 0 CCR3 1232 broad.mit.edu 37 3 46307361 46307361 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:46307361A>G uc003cpg.1 + 4 1255 c.712A>G c.(712-714)ATC>GTC p.I238V CCR3_uc003cpi.1_Missense_Mutation_p.I238V|CCR3_uc003cpj.1_Missense_Mutation_p.I238V|CCR3_uc003cpk.1_Missense_Mutation_p.I259V|CCR3_uc010hjb.1_Missense_Mutation_p.I256V|CCR3_uc003cpl.1_Missense_Mutation_p.I271V NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 238 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTACAAGGCCATCCGGCTCAT 0.448 NA 19 36 0 0 0.008871 0 0 LTF 4057 broad.mit.edu 37 3 46492017 46492017 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:46492017C>G uc003cpq.2 - 7 888 c.850G>C c.(850-852)GAT>CAT p.D284H LTF_uc003fzr.2_Missense_Mutation_p.D240H|LTF_uc010hjh.2_Missense_Mutation_p.D284H|LTF_uc003cpr.2_Missense_Mutation_p.D271H NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 284 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CAGATGGCATCCTCCTTGCCA 0.567 NA 10 14 0 0 0.006214 0 0 COL7A1 1294 broad.mit.edu 37 3 48612109 48612109 + Splice_Site SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:48612109C>G uc003ctz.2 - 77 6394 c.6393_splice c.e77+1 p.R2131_splice NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAGGCCTCACCCTGTCTCCT 0.632 NA 17 43 0 0 0.00499 0 0 CELSR3 1951 broad.mit.edu 37 3 48697761 48697761 + Silent SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:48697761T>A uc003cul.2 - 1 2588 c.2307A>T c.(2305-2307)GCA>GCT p.A769A CELSR3_uc003cuf.1_Silent_p.A839A NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 769 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGCCCACAGCTGCATCCTCAT 0.557 NA 14 34 0 0 0.00245 0 0 RNF123 63891 broad.mit.edu 37 3 49749945 49749945 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:49749945G>A uc003cxh.2 + 27 2616 c.2530G>A c.(2530-2532)GTC>ATC p.V844I RNF123_uc010hky.1_Missense_Mutation_p.V506I|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 844 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GCTGCTGCGCGTCTGCCTGCG 0.547 NA 13 28 0 0 0.001855 0 0 ITIH1 3697 broad.mit.edu 37 3 52825805 52825805 + Nonsense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:52825805C>T uc003dfs.2 + 22 2638 c.2614C>T c.(2614-2616)CAA>TAA p.Q872* ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.A463V|ITIH1_uc010hmo.1_Nonsense_Mutation_p.Q426*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.Q238*|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 872 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CAGGGGTTTGCAAAAAGACTA 0.577 NA 4 31 0 0 0.009096 0 0 FHIT 2272 broad.mit.edu 37 3 59908137 59908137 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:59908137C>G uc003dkx.3 - 8 654 c.283G>C c.(283-285)GTT>CTT p.V95L FHIT_uc003dky.2_Missense_Mutation_p.V95L|FHIT_uc010hnn.1_Missense_Mutation_p.V95L NM_002012 NP_002003 P49789 FHIT_HUMAN fragile histidine triad gene 95 Histidine triad motif.|HIT.|Binding to substrate; phosphate linker. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding 0 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) TGGACGTGAACGTGCTGAAAA 0.418 NA T HMGA2 pleomorphic salivary gland adenoma Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 9 30 0 0 0.004482 0 0 CADPS 8618 broad.mit.edu 37 3 62751616 62751616 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:62751616G>T uc003dll.2 - 2 845 c.485C>A c.(484-486)GCT>GAT p.A162D CADPS_uc003dlm.2_Missense_Mutation_p.A162D|CADPS_uc003dln.2_Missense_Mutation_p.A162D NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 162 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ATTGAGGAAAGCCTGAAACCG 0.468 NA 25 71 5.61819e-17 9.35384e-17 0.005443 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64527523 64527523 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:64527523C>A uc003dmg.2 - 33 5220 c.5188G>T c.(5188-5190)GTC>TTC p.V1730F ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1702F|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V641F NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1730 TSP type-1 15. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGTTATAGACATTACGGCAG 0.403 NA 26 73 8.16721e-17 1.35623e-16 0.002096 1 0 PDZRN3 23024 broad.mit.edu 37 3 73432672 73432672 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:73432672C>A uc003dpl.1 - 10 3141 c.3045G>T c.(3043-3045)ATG>ATT p.M1015I PDZRN3_uc011bgh.1_Missense_Mutation_p.M672I|PDZRN3_uc010hoe.1_Missense_Mutation_p.M713I|PDZRN3_uc011bgf.1_Missense_Mutation_p.M732I|PDZRN3_uc011bgg.1_Missense_Mutation_p.M735I NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1015 Potential. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGAGAATGTTCATCTCCTTCC 0.498 NA 25 218 3.65163e-15 5.87958e-15 0.00632 1 0 EPHA6 285220 broad.mit.edu 37 3 97251300 97251300 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:97251300C>A uc010how.1 + 11 2342 c.2299C>A c.(2299-2301)CAA>AAA p.Q767K EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.Q133K|EPHA6_uc003drs.3_Missense_Mutation_p.Q159K|EPHA6_uc003drr.3_Missense_Mutation_p.Q159K|EPHA6_uc003drt.2_Missense_Mutation_p.Q159K|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 672 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CATGGATCGGCAAAGAAGAGA 0.443 NA 20 40 8.34094e-07 1.02807e-06 0.008871 1 0 IMPG2 50939 broad.mit.edu 37 3 100962638 100962638 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:100962638C>A uc003duq.1 - 13 2740 c.2537G>T c.(2536-2538)GGC>GTC p.G846V IMPG2_uc011bhe.1_Missense_Mutation_p.G709V NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 846 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GTAATCTGTGCCTATCCGGTC 0.443 NA 37 75 4.07013e-28 7.52501e-28 0.00874 1 0 BBX 56987 broad.mit.edu 37 3 107524268 107524268 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:107524268G>T uc010hpr.2 + 18 3117 c.2790G>T c.(2788-2790)CCG>CCT p.P930P BBX_uc003dwk.3_Silent_p.P900P|BBX_uc003dwl.3_Missense_Mutation_p.R594L|BBX_uc003dwm.3_Silent_p.P900P|BBX_uc003dwo.3_Missense_Mutation_p.R247L NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 930 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AAGAAATGCCGCAGGCTCCTG 0.443 NA 33 82 6.53348e-20 1.13223e-19 0.003755 1 0 DZIP3 9666 broad.mit.edu 37 3 108363427 108363427 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:108363427G>T uc003dxd.2 + 14 1980 c.1558G>T c.(1558-1560)GGT>TGT p.G520C DZIP3_uc003dxf.1_Missense_Mutation_p.G520C|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G520C|DZIP3_uc003dxg.1_Missense_Mutation_p.G243C NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 520 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTTGATGAATGGTCTCACTGA 0.403 NA 32 83 4.02929e-09 5.4757e-09 0.002096 1 0 GUCA1C 9626 broad.mit.edu 37 3 108626994 108626994 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:108626994C>A uc003dxj.2 - 4 573 c.505G>T c.(505-507)GTT>TTT p.V169F GUCA1C_uc003dxk.2_Missense_Mutation_p.C182F NM_005459 NP_005450 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 169 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 CTCTTGTAAACAATCTCCAGG 0.418 NSCLC(157;1360 1999 30631 40189 44208) NA 11 37 1.36491e-13 2.1019e-13 0.001855 1 0 IGSF11 152404 broad.mit.edu 37 3 118624546 118624546 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:118624546G>T uc003ebw.2 - 5 847 c.600C>A c.(598-600)GTC>GTA p.V200V IGSF11_uc011biv.1_Silent_p.V200V|IGSF11_uc003ebx.2_Silent_p.V200V|IGSF11_uc003eby.2_Silent_p.V199V|IGSF11_uc003ebz.2_Silent_p.V199V|IGSF11_uc010hqs.2_Silent_p.V199V NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 200 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TCCGGATGGTGACTGTTCCCT 0.463 NA 14 40 7.93312e-07 9.79702e-07 0.00245 1 0 MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:123452795C>T uc003ego.2 - 10 1330 c.1048G>A c.(1048-1050)GCA>ACA p.A350T MYLK_uc011bjw.1_Missense_Mutation_p.A350T|MYLK_uc003egp.2_Missense_Mutation_p.A350T|MYLK_uc003egq.2_Missense_Mutation_p.A350T|MYLK_uc003egr.2_Missense_Mutation_p.A350T|MYLK_uc003egs.2_Missense_Mutation_p.A174T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632 NA 4 107 0 0 0.001168 0 0 IL20RB 53833 broad.mit.edu 37 3 136714381 136714381 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:136714381G>A uc003eri.1 + 6 1057 c.808G>A c.(808-810)GTC>ATC p.V270I IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Missense_Mutation_p.V128I NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor 270 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1) 1 CCCCGTGGTGGTCCTCCCAGA 0.512 NA 62 198 0 0 0.00361 0 0 ARMC8 25852 broad.mit.edu 37 3 137960639 137960639 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:137960639G>T uc003esa.1 + 12 1177 c.810G>T c.(808-810)TTG>TTT p.L270F ARMC8_uc003erw.2_Missense_Mutation_p.L270F|ARMC8_uc003erx.2_Missense_Mutation_p.L270F|ARMC8_uc003ery.2_Missense_Mutation_p.L242F|ARMC8_uc003erz.2_Missense_Mutation_p.L242F|ARMC8_uc011bmf.1_Missense_Mutation_p.L253F|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Missense_Mutation_p.L211F|ARMC8_uc003esb.1_Missense_Mutation_p.L242F|ARMC8_uc003esc.1_Missense_Mutation_p.L42F NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 284 ARM 6. binding 0 TACCTTGTTTGGTTCGAATGT 0.378 NA 21 37 8.10497e-08 1.03509e-07 0.010504 1 0 P2RY1 5028 broad.mit.edu 37 3 152554645 152554645 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:152554645C>T uc003ezq.2 + 1 1910 c.1074C>T c.(1072-1074)ACC>ACT p.T358T NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 358 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AAGACATGACCCTCAATATTT 0.438 NA 20 33 0 0 0.007413 0 0 GPR149 344758 broad.mit.edu 37 3 154147360 154147360 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:154147360C>A uc003faa.2 - 1 145 c.45G>T c.(43-45)CTG>CTT p.L15L NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 15 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCTCTTTCCACAGGCTAGAGT 0.353 NA 23 56 6.12954e-19 1.05078e-18 0.004656 1 0 IQCJ 654502 broad.mit.edu 37 3 158983125 158983125 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:158983125C>T uc003fcp.1 + 5 518 c.413C>T c.(412-414)CCC>CTC p.P138L SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.P111L NM_001042705 NP_001036170 Q1A5X6 IQCJ_HUMAN IQ motif containing J isoform CaMBPv1 138 0 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) CTTGCCAGACCCACTGGGTTC 0.483 NA 18 58 0 0 0.00499 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908507 164908507 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:164908507C>G uc003fej.3 - 2 556 c.112G>C c.(112-114)GAG>CAG p.E38Q SLITRK3_uc003fek.2_Missense_Mutation_p.E38Q NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 38 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TCTATTTCCTCTGAGTCCTCT 0.398 NA HNSCC(40;0.11) 18 59 0 0 0.010504 0 0 C4orf44 345222 broad.mit.edu 37 4 3255175 3255175 + Missense_Mutation SNP G G T rs138360402 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:3255175G>T uc003ggs.2 + 2 745 c.562G>T c.(562-564)GAC>TAC p.D188Y C4orf44_uc003ggt.2_Missense_Mutation_p.D188Y NM_001042690 NP_001036155 Q6ZTZ1 CD044_HUMAN hypothetical protein LOC345222 isoform a 188 0 TGATCGCTCCGACAGCTCCTC 0.587 NA 50 96 4.0181e-32 7.47226e-32 0.00361 1 0 ADRA2C 152 broad.mit.edu 37 4 3769638 3769638 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:3769638C>A uc003ghm.2 + 1 1343 c.1305C>A c.(1303-1305)GTC>GTA p.V435V ADRA2C_uc010icx.2_Intron NM_000683 NP_000674 P18825 ADA2C_HUMAN alpha-2C-adrenergic receptor 435 Helical; Name=7; (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) TCAACCCGGTCATCTACACGG 0.602 Esophageal Squamous(12;454 628 4517 14479) NA 3 22 0.00909568 0.00960939 0.009096 1 0 EVC2 132884 broad.mit.edu 37 4 5570329 5570330 + Missense_Mutation DNP CA CA AT TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:5570329_5570330CA>AT uc003gij.2 - 20 3452_3453 c.3398_3399TG>AT c.(3397-3399)ATG>AAT p.M1133N EVC2_uc011bwb.1_Missense_Mutation_p.M573N|EVC2_uc003gik.2_Missense_Mutation_p.M1053N NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1133 integral to membrane large_intestine(3)|ovary(2) 5 CCCCGGGCACCATGGCCATCCT 0.604 NA 7 8 0 0 0.004672 0 0 ABLIM2 84448 broad.mit.edu 37 4 8082493 8082493 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:8082493T>A uc003gko.2 - 5 634 c.491A>T c.(490-492)CAG>CTG p.Q164L ABLIM2_uc003gkj.3_Missense_Mutation_p.Q164L|ABLIM2_uc003gkm.3_Missense_Mutation_p.Q164L|ABLIM2_uc003gkp.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gkq.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gkr.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gks.3_Missense_Mutation_p.Q164L|ABLIM2_uc011bwl.1_Missense_Mutation_p.Q169L NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 164 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 TACCAGGGCCTGGCCATTCTT 0.552 NA 12 15 0 0 0.001368 0 0 BST1 683 broad.mit.edu 37 4 15724522 15724522 + Silent SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:15724522G>C uc003goh.3 + 8 1011 c.816G>C c.(814-816)GTG>GTC p.V272V BST1_uc003goi.2_Silent_p.V83V NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 272 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 TACAGTGCGTGGACCACAGCA 0.373 NA 17 61 0 0 0.007413 0 0 LCORL 254251 broad.mit.edu 37 4 17910869 17910869 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:17910869C>A uc003gpq.2 - 5 541 c.530G>T c.(529-531)GGT>GTT p.G177V LCORL_uc011bxk.1_Missense_Mutation_p.G90V NM_153686 NP_710153 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 TTGAGTTTTACCACTTTTTGA 0.363 NA 19 55 2.39187e-15 3.88668e-15 0.008871 1 0 GBA3 57733 broad.mit.edu 37 4 22737808 22737808 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:22737808C>A uc003gqp.3 + 2 354 c.263C>A c.(262-264)ACG>AAG p.T88K GBA3_uc010iep.2_Missense_Mutation_p.T88K|GBA3_uc011bxo.1_Missense_Mutation_p.T89K NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 88 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CCTGATGGGACGACAGGTTTC 0.413 NA 28 90 1.39806e-14 2.22848e-14 0.008361 1 0 GBA3 57733 broad.mit.edu 37 4 22820507 22820507 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:22820507C>A uc003gqp.3 + 6 1462 c.1371C>A c.(1369-1371)GCC>GCA p.A457A GBA3_uc010iep.2_Silent_p.A150A|GBA3_uc011bxo.1_3'UTR NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 457 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 AGGAATAAGCCAAGATCATCC 0.498 NA 6 19 3.59834e-05 4.21463e-05 0.001168 1 0 GRXCR1 389207 broad.mit.edu 37 4 43032469 43032470 + Missense_Mutation DNP GA GA TT rs146696590 by1000genomes TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:43032469_43032470GA>TT uc003gwt.2 + 4 785_786 c.785_786GA>TT c.(784-786)CGA>CTT p.R262L NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 262 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 TCCATGTTTCGAAACTGCTTCA 0.47 NA 50 99 0 0 0.004672 0 0 KDR 3791 broad.mit.edu 37 4 55946163 55946163 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:55946163G>T uc003has.2 - 30 4318 c.4016C>A c.(4015-4017)ACA>AAA p.T1339K KDR_uc003hat.1_Missense_Mutation_p.T1339K NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1339 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AATCTGGGCTGTGCTACCGGT 0.522 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 34 100 6.84511e-11 9.84953e-11 0.003271 1 0 KDR 3791 broad.mit.edu 37 4 55976691 55976691 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:55976691T>A uc003has.2 - 9 1436 c.1134A>T c.(1132-1134)AAA>AAT p.K378N KDR_uc003hat.1_Missense_Mutation_p.K378N|KDR_uc011bzx.1_Missense_Mutation_p.K378N NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 378 Ig-like C2-type 4.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CATGCCCCGCTTTAATTGTGT 0.388 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 25 40 0 0 0.005443 0 0 LPHN3 23284 broad.mit.edu 37 4 62599218 62599218 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:62599218A>C uc010ihh.2 + 5 1314 c.1141A>C c.(1141-1143)AAC>CAC p.N381H LPHN3_uc003hcq.3_Missense_Mutation_p.N381H|LPHN3_uc010ihg.1_Missense_Mutation_p.N449H|LPHN3_uc003hcs.1_Missense_Mutation_p.N210H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 381 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TGTATGGAATAACTATCACGT 0.393 NA 5 22 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 4 69342097 69342097 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:69342097C>T uc003hdz.3 + 7 712 c.648C>T c.(646-648)CGC>CGT p.R216R NM_014058 NP_054777 transmembrane protease, serine 11E NA GGAGTCATCGCTGTGGAGCAA 0.488 NA 19 35 0 0 0.008871 0 0 PKD2 5311 broad.mit.edu 37 4 88973291 88973291 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:88973291T>A uc003hre.2 + 7 1763 c.1697T>A c.(1696-1698)GTA>GAA p.V566E PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 566 Helical; (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GCTGTCACAGTATTTTTTGTC 0.303 NA 4 54 0 0 0.000602 0 0 ANK2 287 broad.mit.edu 37 4 114277762 114277762 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:114277762C>A uc003ibe.3 + 38 8088 c.7988C>A c.(7987-7989)TCC>TAC p.S2663Y ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2678Y NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2630 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) GTGTCTTCCTCCTCAGAAAGT 0.478 NA 20 20 5.35267e-07 6.64902e-07 0.007413 1 0 SCLT1 132320 broad.mit.edu 37 4 129880846 129880846 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:129880846C>A uc003igp.2 - 12 1462 c.956G>T c.(955-957)TGC>TTC p.C319F SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 319 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TAATTCATTGCACTTTGCTTG 0.358 NA 44 46 9.84934e-19 1.67491e-18 0.002522 1 0 TKTL2 84076 broad.mit.edu 37 4 164394569 164394569 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:164394569G>A uc003iqp.3 - 1 479 c.318C>T c.(316-318)AGC>AGT p.S106S NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 106 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCAAGTCGCTGTGAAGTT 0.537 NA 8 15 0 0 0.00308 0 0 TLR3 7098 broad.mit.edu 37 4 187004712 187004712 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:187004712C>T uc003iyq.2 + 4 1973 c.1872C>T c.(1870-1872)TCC>TCT p.S624S TLR3_uc011ckz.1_Silent_p.S347S|TLR3_uc003iyr.2_Silent_p.S347S NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 624 LRR 22.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TCATAACATCCGTTGAGAAGA 0.393 NA 5 56 0 0 0.000602 0 0 C5orf55 116349 broad.mit.edu 37 5 442858 442858 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:442858A>C uc010ita.2 - 1 401 c.80T>G c.(79-81)GTG>GGG p.V27G EXOC3_uc003jba.2_5'Flank NM_138464 NP_612473 Q8N2X6 CE055_HUMAN hypothetical protein LOC116349 precursor 27 extracellular region 0 CCCGGCGCCCACCTCAGTCCG 0.587 NA 13 123 0 0 0.002299 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629469 9629469 + Missense_Mutation SNP C C A rs145804099 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:9629469C>A uc003jem.1 - 1 995 c.676G>T c.(676-678)GCG>TCG p.A226S NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 226 Helical; Name=6; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GACAGCAACGCGCTGATGGGT 0.498 NA 36 38 9.80977e-26 1.80841e-25 0.004289 1 0 CTNND2 1501 broad.mit.edu 37 5 11346577 11346577 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:11346577A>T uc003jfa.1 - 9 1680 c.1535T>A c.(1534-1536)GTT>GAT p.V512D CTNND2_uc010itt.2_Missense_Mutation_p.V421D|CTNND2_uc011cmy.1_Missense_Mutation_p.V175D|CTNND2_uc011cmz.1_Missense_Mutation_p.V79D|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V79D NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 512 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGGAGACTCAACAGAGGGACA 0.612 NA 29 145 0 0 0.00632 0 0 TRIO 7204 broad.mit.edu 37 5 14474198 14474198 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:14474198G>C uc003jff.2 + 40 6081 c.6075G>C c.(6073-6075)TGG>TGC p.W2025C TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.W1674C NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2025 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TTTACGACTGGCACAGAGAGT 0.453 NA 7 61 0 0 0.004482 0 0 FBXL7 23194 broad.mit.edu 37 5 15928579 15928579 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:15928579C>A uc003jfn.1 + 3 1189 c.708C>A c.(706-708)CTC>CTA p.L236L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 236 LRR 3. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TGGTGTCCCTCTGCCCTAATC 0.562 NA 22 90 1.37878e-21 2.46321e-21 0.00333 1 0 CDH10 1008 broad.mit.edu 37 5 24487843 24487843 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:24487843G>T uc003jgr.1 - 12 2628 c.2296C>A c.(2296-2298)CGA>AGA p.R766R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 766 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCCCATTCTCGGAGGTAATCG 0.413 NA HNSCC(23;0.051) 146 93 6.69687e-66 1.27141e-65 0.00361 1 0 CDH10 1008 broad.mit.edu 37 5 24509706 24509706 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:24509706T>C uc003jgr.1 - 7 1557 c.1225A>G c.(1225-1227)AGG>GGG p.R409G CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 409 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCTGGGTCCCTTGCCATTACA 0.318 NA HNSCC(23;0.051) 20 83 0 0 0.010504 0 0 C5orf42 65250 broad.mit.edu 37 5 37187517 37187517 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:37187517T>A uc011cpa.1 - 23 4310 c.4079A>T c.(4078-4080)AAG>ATG p.K1360M C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.K435M|C5orf42_uc011cpb.1_Missense_Mutation_p.K241M NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1360 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GCACATTACCTTTCTGATTGG 0.323 NA 17 110 0 0 0.00499 0 0 FYB 2533 broad.mit.edu 37 5 39202797 39202797 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:39202797C>A uc003jls.2 - 1 333 c.266G>T c.(265-267)GGC>GTC p.G89V FYB_uc003jlt.2_Missense_Mutation_p.G89V|FYB_uc003jlu.2_Missense_Mutation_p.G89V|FYB_uc011cpl.1_Missense_Mutation_p.G99V NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 89 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GAATCTTTGGCCTGCTCCAGT 0.547 NA 25 18 5.61819e-17 9.35384e-17 0.005443 1 0 NNT 23530 broad.mit.edu 37 5 43656852 43656852 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:43656852G>T uc003joe.2 + 16 2646 c.2391G>T c.(2389-2391)GTG>GTT p.V797V NNT_uc003jof.2_Silent_p.V797V NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 797 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CATTCATGGTGGACCCAAGCT 0.493 NA 25 137 6.12954e-19 1.05078e-18 0.004656 1 0 ITGA1 3672 broad.mit.edu 37 5 52214578 52214578 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:52214578G>T uc003jou.2 + 16 2057 c.2005G>T c.(2005-2007)GTA>TTA p.V669L ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.V200L NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 669 Extracellular (Potential).|FG-GAP 7. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AGATGTGGCCGTAGTTAAAGT 0.373 NA 17 15 1.33834e-09 1.83841e-09 0.007413 1 0 IQGAP2 10788 broad.mit.edu 37 5 75902092 75902092 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:75902092G>T uc003kek.2 + 12 1543 c.1321G>T c.(1321-1323)GAT>TAT p.D441Y IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 441 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAATTGTATTGATATGGTTAA 0.358 NA 10 25 2.80697e-09 3.82277e-09 0.000978 1 0 F2RL2 2151 broad.mit.edu 37 5 75913420 75913420 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:75913420T>A uc003kem.2 - 2 1297 c.1112A>T c.(1111-1113)TAC>TTC p.Y371F IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y349F NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 371 Cytoplasmic (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TTTTGTAAGGTAAGCAGTGGA 0.368 NA 7 29 0 0 0.00308 0 0 LIX1 167410 broad.mit.edu 37 5 96460280 96460280 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:96460280C>T uc003kmy.3 - 2 376 c.136G>A c.(136-138)GCT>ACT p.A46T NM_153234 NP_694966 Q8N485 LIX1_HUMAN limb expression 1 46 ovary(1) 1 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) GGGAATGCAGCCTTCTGCTGC 0.483 NA 10 17 0 0 0.008291 0 0 PAM 5066 broad.mit.edu 37 5 102285239 102285239 + Splice_Site SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:102285239A>G uc003knw.2 + 9 1017 c.644_splice c.e9-2 p.V215_splice PAM_uc003kns.2_Splice_Site_p.V215_splice|PAM_uc003knt.2_Splice_Site_p.V215_splice|PAM_uc003knu.2_Splice_Site_p.V215_splice|PAM_uc003knv.2_Splice_Site_p.V215_splice|PAM_uc011cuz.1_Splice_Site_p.V118_splice NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CATTTCCCACAGTGGTGAATT 0.338 NA 18 31 0 0 0.008871 0 0 FBN2 2201 broad.mit.edu 37 5 127641291 127641291 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:127641291C>A uc003kuu.2 - 44 6025 c.5586G>T c.(5584-5586)CAG>CAT p.Q1862H NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1862 EGF-like 30; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGCATTCCGCTGGCAGAGAT 0.428 NA 27 44 1.68575e-08 2.20605e-08 0.007291 1 0 TGFBI 7045 broad.mit.edu 37 5 135390481 135390481 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:135390481G>A uc003lbf.3 + 10 1502 c.1341G>A c.(1339-1341)AAG>AAA p.K447K TGFBI_uc003lbg.3_Silent_p.K180K|TGFBI_uc003lbh.3_Silent_p.K273K|TGFBI_uc011cyb.1_Silent_p.K273K|TGFBI_uc010jed.2_Silent_p.K180K NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 447 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGCCTCTAAGTATCTGTACC 0.448 NA 7 160 0 0 0.00308 0 0 WNT8A 7478 broad.mit.edu 37 5 137426515 137426515 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:137426515C>T uc003lcd.1 + 6 814 c.809C>T c.(808-810)ACA>ATA p.T270I BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.T288I|WNT8A_uc011cyk.1_Missense_Mutation_p.T288I NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 270 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATCTATGGCACAGAGGGTCGT 0.572 NA 12 44 0 0 0.000978 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202495 140202495 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140202495G>A uc003lhl.2 + 1 1135 c.1135G>A c.(1135-1137)GGT>AGT p.G379S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G379S|PCDHA5_uc003lhj.1_Missense_Mutation_p.G379S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 379 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTGACTCAGGTGCCAACGG 0.567 NA 35 70 0 0 0.002836 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503638 140503638 + Silent SNP C C T rs112059899 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140503638C>T uc003lip.1 + 1 2058 c.2058C>T c.(2056-2058)ACC>ACT p.T686T NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 686 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCTCTCACCGTCTACCTGG 0.697 NA 4 194 0 0 0.006214 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503767 140503767 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140503767C>T uc003lip.1 + 1 2187 c.2187C>T c.(2185-2187)GGC>GGT p.G729G NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 729 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCCGAGGGCCCCTTTCCAG 0.657 NA 4 202 0 0 0.009096 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590432 140590432 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140590432G>T uc003liz.2 + 1 2142 c.1953G>T c.(1951-1953)CCG>CCT p.P651P PCDHB12_uc011dak.1_Silent_p.P314P NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 651 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGCCTCCGCGCTCGGCCA 0.731 NA 5 73 0.00307968 0.00331979 0.00308 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595689 140595689 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140595689G>T uc003lja.1 + 1 2181 c.1994G>T c.(1993-1995)GGC>GTC p.G665V NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 665 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTGGACGGCTTCTCCCAG 0.706 NA 26 61 1.66031e-10 2.34136e-10 0.003954 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723759 140723759 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140723759G>A uc003ljm.1 + 1 159 c.159G>A c.(157-159)GGG>GGA p.G53G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.G53G NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 53 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGACCTGGGGCTAGAGCCCC 0.607 NA OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 116 0 0 0.009718 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811375 140811375 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140811375C>T uc003lkt.1 + 1 1218 c.1049C>T c.(1048-1050)ACC>ATC p.T350I 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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T350I NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 350 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTCCTCACCTCTCTCGCC 0.488 NA 17 40 0 0 0.007413 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140890662 140890662 + Silent SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:140890662A>G uc003lla.1 + 4 2757 c.2757A>G c.(2755-2757)GCA>GCG p.A919A PCDHGA1_uc003lji.1_Silent_p.A906A|PCDHGA2_uc003ljk.1_Silent_p.A907A|PCDHGA3_uc003ljm.1_Silent_p.A907A|PCDHGA3_uc010jfx.1_Silent_p.A667A|PCDHGB1_uc003ljo.1_Silent_p.A902A|PCDHGA4_uc003ljq.1_Silent_p.A906A|PCDHGB2_uc003ljs.1_Silent_p.A906A|PCDHGA5_uc003lju.1_Silent_p.A906A|PCDHGB3_uc003ljw.1_Silent_p.A904A|PCDHGA6_uc003ljy.1_Silent_p.A907A|PCDHGA7_uc003lka.1_Silent_p.A907A|PCDHGB4_uc003lkc.1_Silent_p.A898A|PCDHGA8_uc003lkd.1_Silent_p.A907A|PCDHGB5_uc003lkf.1_Silent_p.A898A|PCDHGA9_uc003lkh.1_Silent_p.A907A|PCDHGB6_uc003lkj.1_Silent_p.A905A|PCDHGA10_uc003lkl.1_Silent_p.A911A|PCDHGB7_uc003lkn.1_Silent_p.A904A|PCDHGA11_uc003lkp.1_Silent_p.A725A|PCDHGA11_uc003lkq.1_Silent_p.A910A|PCDHGA12_uc003lkt.1_Silent_p.A907A|PCDHGC3_uc003lkv.1_Silent_p.A909A|PCDHGC3_uc003lkw.1_Silent_p.A109A|PCDHGC4_uc003lky.1_Silent_p.A913A NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 919 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACCAACGCAGCTGGCAAGC 0.602 NA 15 65 0 0 0.00499 0 0 SLC36A1 206358 broad.mit.edu 37 5 150846759 150846759 + Splice_Site SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:150846759G>C uc003luc.2 + 6 637 c.420_splice c.e6-1 p.R140_splice GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Splice_Site_p.R140_splice|SLC36A1_uc010jhw.1_Splice_Site_p.R140_splice NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCCACCTCCAGACGTGTTGTG 0.403 Melanoma(151;1534 1860 12947 32979 37872) NA 31 80 0 0 0.003271 0 0 FAT2 2196 broad.mit.edu 37 5 150887062 150887062 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:150887062G>A uc003lue.3 - 22 12183 c.12170C>T c.(12169-12171)GCG>GTG p.A4057V GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A664V NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4057 Helical; (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATAATGAACGCCACGGCCAC 0.582 NA 7 53 0 0 0.00308 0 0 EBF1 1879 broad.mit.edu 37 5 158139237 158139237 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:158139237C>A uc010jip.2 - 14 1776 c.1474G>T c.(1474-1476)GGC>TGC p.G492C EBF1_uc011ddw.1_Missense_Mutation_p.G360C|EBF1_uc011ddx.1_Missense_Mutation_p.G493C|EBF1_uc003lxl.3_Missense_Mutation_p.G461C NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 492 Pro/Ser/Thr-rich. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCGGCAGAGCCGTATCCGTTC 0.582 NA T HMGA2 lipoma 6 12 2.0095e-06 2.44367e-06 0.001984 1 0 GABRP 2568 broad.mit.edu 37 5 170224482 170224482 + Silent SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:170224482T>A uc003mau.2 + 6 669 c.471T>A c.(469-471)ACT>ACA p.T157T GABRP_uc011dev.1_Silent_p.T157T NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 157 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCACGACAACTGTTGCATGTA 0.418 NA 15 45 0 0 0.00499 0 0 CDHR2 54825 broad.mit.edu 37 5 176002154 176002154 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:176002154G>C uc003mem.1 + 8 631 c.565G>C c.(565-567)GGC>CGC p.G189R CDHR2_uc003men.1_Missense_Mutation_p.G189R NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 189 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 AGTCCTCAATGGCAGCCTCAG 0.627 NA 26 61 0 0 0.00632 0 0 TUBB2B 347733 broad.mit.edu 37 6 3225005 3225005 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:3225005C>T uc003mvg.2 - 4 1509 c.1318G>A c.(1318-1320)GAG>AAG p.E440K TUBB2B_uc010jnj.2_Missense_Mutation_p.E403K|TUBB2B_uc010jnk.2_Missense_Mutation_p.E368K|TUBB2B_uc003mvh.2_Missense_Mutation_p.E413K|uc011dhu.1_RNA NM_178012 NP_821080 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B 440 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity large_intestine(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.108) TCCTCGCCCTCCTCCTCCTCG 0.652 NA 18 38 0 0 0.002299 0 0 RANBP9 10048 broad.mit.edu 37 6 13644892 13644892 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:13644892G>C uc003nbb.2 - 6 1056 c.997C>G c.(997-999)CCT>GCT p.P333A RANBP9_uc003nba.2_Translation_Start_Site NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 333 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) AACACGAAAGGATGTTGCCCA 0.423 NA 22 82 0 0 0.002299 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124812 26124812 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:26124812C>G uc003ngm.2 + 1 440 c.352C>G c.(352-354)CCT>GCT p.P118A HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.P118A NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 118 nucleosome assembly nucleosome|nucleus DNA binding 0 CGTGCTTCTGCCTAAGAAGAC 0.567 NA 25 51 0 0 0.00632 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778257 27778257 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:27778257G>T uc003njm.2 + 1 416 c.406G>T c.(406-408)GCT>TCT p.A136S HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 136 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CGGCGAGAGGGCTTGAGTCTC 0.552 NA 12 23 1.61879e-10 2.29811e-10 0.001368 1 0 SKIV2L 6499 broad.mit.edu 37 6 31927176 31927176 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:31927176G>A uc003nyn.1 + 2 514 c.125G>A c.(124-126)AGC>AAC p.S42N RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|MIR1236_hsa-mir-1236|MI0006326_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 42 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CCAGAGAGTAGCGTGAGTGAC 0.572 NA 45 112 0 0 0.002522 0 0 RNF5 6048 broad.mit.edu 37 6 32146358 32146358 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:32146358A>G uc003oaj.3 + 1 197 c.70A>G c.(70-72)ACC>GCC p.T24A AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 24 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGCGGGCGCGACCTTCGAATG 0.642 NA 14 37 0 0 0.006122 0 0 BRD2 6046 broad.mit.edu 37 6 32943245 32943245 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:32943245G>A uc003ocn.3 + 4 2119 c.418G>A c.(418-420)GAG>AAG p.E140K BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.E140K|BRD2_uc003ocp.3_Missense_Mutation_p.E20K|BRD2_uc010juh.2_Missense_Mutation_p.E140K NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 140 Bromo 1. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GGCTGCTTCAGAGTGTATGCA 0.333 NA 11 46 0 0 0.000978 0 0 TCP11 6954 broad.mit.edu 37 6 35088692 35088692 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:35088692G>T uc003okd.2 - 6 929 c.748C>A c.(748-750)CAG>AAG p.Q250K TCP11_uc003ojz.1_Missense_Mutation_p.Q175K|TCP11_uc003oka.2_Missense_Mutation_p.Q175K|TCP11_uc003okb.2_Missense_Mutation_p.Q174K|TCP11_uc003okc.2_Missense_Mutation_p.Q174K|TCP11_uc011dsu.1_Missense_Mutation_p.Q232K|TCP11_uc011dsv.1_Missense_Mutation_p.Q199K|TCP11_uc011dsw.1_Missense_Mutation_p.Q204K NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 237 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 ATACTAGGCTGCTTATTGAGG 0.418 NA 111 280 1.9213e-43 3.62595e-43 0.00361 1 0 STK38 11329 broad.mit.edu 37 6 36485593 36485593 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:36485593C>A uc003omg.2 - 5 1003 c.415G>T c.(415-417)GAC>TAC p.D139Y STK38_uc003omh.2_Missense_Mutation_p.D139Y|STK38_uc003omi.2_Missense_Mutation_p.D139Y NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 139 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 ACTAGAATGTCACGCTCCGCA 0.403 Colon(180;997 3561 16158) NA 17 59 9.7654e-05 0.000113129 0.007413 1 0 C6orf154 221424 broad.mit.edu 37 6 43476063 43476063 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:43476063C>A uc003ovk.1 - 3 1430 c.529G>T c.(529-531)GTC>TTC p.V177F C6orf154_uc003ovj.1_Intron NM_001012974 NP_001012992 Q5JTD7 CF154_HUMAN hypothetical protein LOC221424 177 LRR 5. 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) AGATTGAGGACGCGGACCTGG 0.607 NA 18 25 3.32936e-07 4.15191e-07 0.006122 1 0 RHAG 6005 broad.mit.edu 37 6 49578778 49578778 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:49578778G>T uc003ozk.3 - 7 1088 c.1026C>A c.(1024-1026)GGC>GGA p.G342G RHAG_uc010jzl.2_Silent_p.G342G|RHAG_uc010jzm.2_Intron NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 342 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) TGCCTGCAAGGCCTCCCACTA 0.473 Ovarian(176;476 2003 7720 43408 44749) NA 14 52 1.3612e-06 1.66806e-06 0.003163 1 0 PGK2 5232 broad.mit.edu 37 6 49754274 49754274 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:49754274C>A uc003ozu.2 - 1 734 c.627G>T c.(625-627)CTG>CTT p.L209L NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 209 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CAAGTATAGCCAGAAAGGGTC 0.428 NA 35 84 4.34311e-12 6.43873e-12 0.003271 1 0 GSTA2 2939 broad.mit.edu 37 6 52617725 52617725 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:52617725G>A uc003pay.2 - 5 491 c.341C>T c.(340-342)CCT>CTT p.P114L NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 114 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TTGTTCCTCAGGTTGACTAAA 0.388 NA 4 244 0 0 0.009096 0 0 LRRC1 55227 broad.mit.edu 37 6 53706983 53706983 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:53706983G>T uc003pcd.1 + 2 512 c.235G>T c.(235-237)GCA>TCA p.A79S NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 79 LRR 3. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) TCCAGAAATAGCAAACTTCAT 0.403 NA 15 47 0.000566183 0.000633966 0.00499 1 0 COL21A1 81578 broad.mit.edu 37 6 56021688 56021688 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:56021688C>T uc003pcs.2 - 10 1663 c.1431G>A c.(1429-1431)AAG>AAA p.K477K COL21A1_uc003pct.1_Intron|COL21A1_uc011dxi.1_Silent_p.K477K|COL21A1_uc003pcu.1_Silent_p.K474K NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 477 Collagen-like 1. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACTCACAGGCTTACCATCTT 0.363 NA 4 8 0 0 0.009096 0 0 COL19A1 1310 broad.mit.edu 37 6 70878090 70878091 + Missense_Mutation DNP GG GG TT TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:70878090_70878091GG>TT uc003pfc.1 + 39 2641_2642 c.2524_2525GG>TT c.(2524-2526)GGG>TTG p.G842L NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 842 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CAGTTACCCAGGGCCACCCGGT 0.317 NA 8 22 0 0 0.004672 0 0 TTK 7272 broad.mit.edu 37 6 80749948 80749948 + Silent SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:80749948C>G uc003pjc.2 + 20 2417 c.2343C>G c.(2341-2343)TCC>TCG p.S781S TTK_uc003pjb.3_Silent_p.S780S NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 781 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGAGGATATCCATTCCTGAGC 0.299 NA 16 42 0 0 0.006122 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84567041 84567041 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:84567041C>A uc003pke.2 + 4 471 c.320C>A c.(319-321)GCC>GAC p.A107D CYB5R4_uc003pkf.2_5'Flank NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein 107 Ripply homology domain. somite rostral/caudal axis specification nucleus 0 CCAATTCAAGCCACAATTTCA 0.313 NA 29 59 5.61819e-17 9.35384e-17 0.005443 1 0 SPACA1 81833 broad.mit.edu 37 6 88773885 88773885 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:88773885G>T uc003pmn.2 + 6 796 c.679G>T c.(679-681)GTC>TTC p.V227F NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 227 Helical; (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) GACCATAGGAGTCATTATCTG 0.368 NA 40 78 2.87052e-16 4.72966e-16 0.005524 1 0 WASF1 8936 broad.mit.edu 37 6 110428292 110428292 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:110428292C>A uc003ptv.1 - 7 1365 c.528G>T c.(526-528)AAG>AAT p.K176N WASF1_uc003ptw.1_Missense_Mutation_p.K176N|WASF1_uc003ptx.1_Missense_Mutation_p.K176N|WASF1_uc003pty.1_Missense_Mutation_p.K176N|WASF1_uc003ptz.1_Missense_Mutation_p.K176N NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 176 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) TCTGCTTCCTCTTTTCCTTCC 0.294 NA 12 41 0.000151284 0.000174622 0.001855 1 0 CDC40 51362 broad.mit.edu 37 6 110551182 110551182 + Nonsense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:110551182G>T uc003pua.2 + 15 1612 c.1588G>T c.(1588-1590)GGA>TGA p.G530* NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 530 WD 6. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGATGGAAATGGAAAATTAAA 0.353 NA 12 43 0.000219431 0.000250105 0.00245 1 0 LAMA4 3910 broad.mit.edu 37 6 112537579 112537579 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:112537579C>G uc003pvu.2 - 3 596 c.287G>C c.(286-288)GGA>GCA p.G96A LAMA4_uc003pvv.2_Missense_Mutation_p.G96A|LAMA4_uc003pvt.2_Missense_Mutation_p.G96A|LAMA4_uc003pvw.2_Missense_Mutation_p.G96A NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 96 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACACAGTATCCTGAGCCGTC 0.468 NA 15 32 0 0 0.00499 0 0 C6orf170 221322 broad.mit.edu 37 6 121642831 121642831 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:121642831C>A uc003pyo.1 - 2 333 c.265G>T c.(265-267)GGC>TGC p.G89C C6orf170_uc003pyq.1_RNA NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 89 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GTATCATAGCCGCATTCTTCA 0.348 NA 34 122 3.03874e-20 5.2949e-20 0.003271 1 0 LAMA2 3908 broad.mit.edu 37 6 129465106 129465106 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:129465106G>A uc003qbn.2 + 5 805 c.700G>A c.(700-702)GAA>AAA p.E234K LAMA2_uc003qbo.2_Missense_Mutation_p.E234K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 234 Laminin N-terminal. 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) AGAACTGCTAGAATTTACCTC 0.393 NA 16 49 0 0 0.006122 0 0 LAMA2 3908 broad.mit.edu 37 6 129785559 129785559 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:129785559T>A uc003qbn.2 + 49 7222 c.7117T>A c.(7117-7119)TCG>ACG p.S2373T LAMA2_uc003qbo.2_Missense_Mutation_p.S2373T NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2373 Laminin G-like 2. 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) AACATTTTCTTCGAGTGCTCT 0.428 NA 37 122 0 0 0.007835 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596819 136596819 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:136596819T>C uc003qgx.1 - 6 1956 c.1703A>G c.(1702-1704)GAC>GGC p.D568G BCLAF1_uc003qgw.1_Missense_Mutation_p.D395G|BCLAF1_uc003qgy.1_Missense_Mutation_p.D566G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D566G NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 568 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AAGCAGCCTGTCTTTAGTCAA 0.388 Colon(142;1534 1789 5427 7063 28491) NA 4 112 0 0 0.001984 0 0 IL20RA 53832 broad.mit.edu 37 6 137325893 137325893 + Silent SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:137325893T>C uc003qhj.2 - 6 1162 c.729A>G c.(727-729)CAA>CAG p.Q243Q IL20RA_uc011edl.1_Silent_p.Q194Q|IL20RA_uc003qhk.2_Silent_p.Q132Q|IL20RA_uc003qhi.2_5'UTR NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 243 Extracellular (Potential). integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) ACTCTGATGATTGATCTGTAA 0.378 NA 20 68 0 0 0.002299 0 0 TAB2 23118 broad.mit.edu 37 6 149700010 149700010 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:149700010G>T uc003qmj.2 + 3 1137 c.959G>T c.(958-960)GGA>GTA p.G320V TAB2_uc011eec.1_Missense_Mutation_p.G288V|TAB2_uc010kia.1_Missense_Mutation_p.G320V|TAB2_uc010kib.1_Missense_Mutation_p.G320V|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 320 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 ATTTCAACAGGACCTCGAAAA 0.413 NA 19 47 3.99206e-14 6.2077e-14 0.007413 1 0 MAP3K4 4216 broad.mit.edu 37 6 161470454 161470454 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:161470454A>G uc003qtn.2 + 3 1292 c.1150A>G c.(1150-1152)AAA>GAA p.K384E MAP3K4_uc010kkc.1_Missense_Mutation_p.K384E|MAP3K4_uc003qto.2_Missense_Mutation_p.K384E|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 384 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ATATGCTGCAAAAGACTTCCA 0.403 NA 11 38 0 0 0.008291 0 0 C6orf118 168090 broad.mit.edu 37 6 165715241 165715241 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:165715241G>A uc003qum.3 - 2 606 c.570C>T c.(568-570)GCC>GCT p.A190A C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 190 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTCTGGACCCGGCCTCCTGGT 0.632 NA 10 45 0 0 0.008291 0 0 T 6862 broad.mit.edu 37 6 166574331 166574331 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr6:166574331C>A uc003quu.1 - 8 1521 c.1028G>T c.(1027-1029)AGC>ATC p.S343I T_uc003qut.1_Missense_Mutation_p.S344I|T_uc003quv.1_Missense_Mutation_p.S285I NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 343 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TTACCTGGAGCTGGTAGGTGG 0.542 NA Chordoma_Familial_Clustering_of 26 43 4.22769e-11 6.15289e-11 0.00632 1 0 THSD7A 221981 broad.mit.edu 37 7 11675994 11675994 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:11675994G>T uc003ssf.3 - 2 1037 c.785C>A c.(784-786)ACC>AAC p.T262N NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 262 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CATTGAGCAGGTGCTCCAGGG 0.572 NA HNSCC(18;0.044) 15 58 4.75885e-15 7.643e-15 0.00499 1 0 AHR 196 broad.mit.edu 37 7 17374516 17374516 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:17374516G>A uc011jxz.1 + 8 1527 c.914G>A c.(913-915)AGA>AAA p.R305K AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 305 PAS 2. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) AACAGAGGAAGAATTGTTTTA 0.333 NA 3 88 0 0 0.004672 0 0 HDAC9 9734 broad.mit.edu 37 7 18687575 18687575 + Silent SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:18687575T>C uc003suh.2 + 9 1235 c.1194T>C c.(1192-1194)CAT>CAC p.H398H HDAC9_uc003sue.2_Silent_p.H398H|HDAC9_uc011jyd.1_Silent_p.H398H|HDAC9_uc003sui.2_Silent_p.H401H|HDAC9_uc003suj.2_Silent_p.H357H|HDAC9_uc011jya.1_Silent_p.H395H|HDAC9_uc003sua.1_Silent_p.H376H|HDAC9_uc011jyb.1_Silent_p.H354H|HDAC9_uc003sud.1_Silent_p.H398H|HDAC9_uc011jyc.1_Silent_p.H357H|HDAC9_uc003suf.1_Silent_p.H429H|HDAC9_uc010kud.1_Silent_p.H401H|HDAC9_uc011jye.1_Silent_p.H370H|HDAC9_uc011jyf.1_Silent_p.H321H|HDAC9_uc010kue.1_Silent_p.H141H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 398 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TCCTGCAGCATTTATTATTGA 0.458 NA 5 14 0 0 0.000602 0 0 ABCB5 340273 broad.mit.edu 37 7 20793041 20793041 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:20793041G>T uc003suw.3 + 18 2699 c.2153G>T c.(2152-2154)AGA>ATA p.R718I ABCB5_uc010kuh.2_Missense_Mutation_p.R1163I NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 718 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAGAAACAAAGACTAGCTATT 0.418 NA 26 44 2.44723e-14 3.84306e-14 0.004656 1 0 DNAH11 8701 broad.mit.edu 37 7 21827064 21827064 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:21827064A>G uc003svc.2 + 61 9839 c.9808A>G c.(9808-9810)ATT>GTT p.I3270V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3270 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CAAAGAGCACATTCCAGAGAA 0.373 NA Kartagener_syndrome 14 43 0 0 0.00245 0 0 GPNMB 10457 broad.mit.edu 37 7 23306169 23306169 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:23306169G>A uc003swc.2 + 7 1249 c.1088G>A c.(1087-1089)AGG>AAG p.R363K GPNMB_uc003swb.2_Missense_Mutation_p.R351K|GPNMB_uc011jyy.1_Missense_Mutation_p.R305K|GPNMB_uc011jyz.1_Missense_Mutation_p.R252K NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 363 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) GAGCTGAGTAGGATTCCTGAT 0.428 NA 13 54 0 0 0.001855 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23358857 23358857 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:23358857G>C uc003swg.2 - 11 1486 c.1220C>G c.(1219-1221)ACT>AGT p.T407S IGF2BP3_uc003swf.2_Missense_Mutation_p.T26S NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 407 KH 3. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 CAGATGAACAGTCTCCGTTTC 0.448 NA 30 65 0 0 0.009535 0 0 TRIL 9865 broad.mit.edu 37 7 28996417 28996417 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:28996417C>A uc003szt.2 - 3 1613 c.1246G>T c.(1246-1248)GAT>TAT p.D416Y uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 416 Extracellular (Potential).|LRRCT. inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 GGCGAGGGATCCGCGCAGGAT 0.662 NA 16 43 3.32936e-07 4.15191e-07 0.006122 1 0 EEPD1 80820 broad.mit.edu 37 7 36338682 36338682 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:36338682G>T uc003tfa.2 + 8 2217 c.1577G>T c.(1576-1578)GGG>GTG p.G526V NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 526 DNA repair DNA binding 0 TCTTGGGGCGGGGTGGCTTCT 0.587 NA 18 46 1.45105e-14 2.30142e-14 0.006122 1 0 INHBA 3624 broad.mit.edu 37 7 41730000 41730000 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:41730000G>C uc003thq.2 - 2 764 c.529C>G c.(529-531)CAG>GAG p.Q177E INHBA_uc003thr.2_Missense_Mutation_p.Q177E NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 177 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 TTCTGCTGCTGGAAGAGGCGG 0.572 NA TSP Lung(11;0.080) 19 55 0 0 0.00333 0 0 ZNF716 441234 broad.mit.edu 37 7 57522855 57522855 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:57522855G>T uc011kdi.1 + 3 355 c.243G>T c.(241-243)GAG>GAT p.E81D NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AGAGAAATGAGATGGTAGCCA 0.413 NA 15 63 0.00244969 0.00266326 0.00245 1 0 WBSCR17 64409 broad.mit.edu 37 7 70880936 70880937 + Missense_Mutation DNP GG GG TT TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:70880936_70880937GG>TT uc003tvy.2 + 4 651_652 c.651_652GG>TT c.(649-654)GTGGTA>GTTTTA p.V218L WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 218 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGGTGAAGGTGGTAAGAAATCA 0.53 NA 11 25 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82579217 82579217 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:82579217C>T uc003uhx.2 - 6 10976 c.10687G>A c.(10687-10689)GGC>AGC p.G3563S PCLO_uc003uhv.2_Missense_Mutation_p.G3563S|PCLO_uc010lec.2_Missense_Mutation_p.G528S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3494 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCTAAACTGCCCCCTTTGTAA 0.448 NA 14 47 0 0 0.00499 0 0 ABCB4 5244 broad.mit.edu 37 7 87041230 87041230 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:87041230A>G uc003uiv.1 - 23 2979 c.2903T>C c.(2902-2904)ATG>ACG p.M968T ABCB4_uc003uiw.1_Missense_Mutation_p.M968T|ABCB4_uc003uix.1_Intron NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 968 Extracellular (By similarity).|ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCTGAAGCGCATATGTCCATT 0.308 NA 10 35 0 0 0.006214 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764413 92764413 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:92764413T>C uc003umh.1 - 5 2088 c.872A>G c.(871-873)GAA>GGA p.E291G SAMD9L_uc003umj.1_Missense_Mutation_p.E291G|SAMD9L_uc003umi.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E291G|SAMD9L_uc003umk.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E291G|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 291 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAGAAGGACTTCCACAAACCT 0.363 NA 49 93 0 0 0.00361 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95662065 95662065 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:95662065G>T uc003uoc.3 + 12 1531 c.1254G>T c.(1252-1254)TGG>TGT p.W418C DYNC1I1_uc003uod.3_Missense_Mutation_p.W401C|DYNC1I1_uc003uob.2_Missense_Mutation_p.W381C|DYNC1I1_uc003uoe.3_Missense_Mutation_p.W398C|DYNC1I1_uc010lfl.2_Missense_Mutation_p.W407C NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 418 WD 3. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TGTGTTCCTGGAGCCTGGACA 0.438 NA 28 64 1.68575e-08 2.20605e-08 0.007291 1 0 LAMB1 3912 broad.mit.edu 37 7 107592472 107592472 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:107592472G>A uc003vew.2 - 23 3611 c.3276C>T c.(3274-3276)TTC>TTT p.F1092F LAMB1_uc003vev.2_Silent_p.F1116F NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1092 Laminin EGF-like 12. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGATGGCCCGAAGGAATGAG 0.567 NA 4 24 0 0 0.009096 0 0 C7orf58 79974 broad.mit.edu 37 7 120629670 120629670 + Translation_Start_Site SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:120629670C>A uc003vjq.3 + 2 442 c.-5C>A c.(-7--3)AACTG>AAATG C7orf58_uc003vjr.1_Translation_Start_Site|C7orf58_uc003vjs.3_Translation_Start_Site NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TGAAGCTGAACTGGTCATGGT 0.502 NA 18 46 1.37522e-17 2.31387e-17 0.007413 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121651939 121651939 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:121651939G>T uc003vjy.2 + 12 3234 c.2839G>T c.(2839-2841)GCA>TCA p.A947S PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 947 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TTACAGTTCTGCAATACCTGT 0.448 NA 28 79 3.65163e-15 5.87958e-15 0.00632 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121652034 121652034 + Silent SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:121652034C>G uc003vjy.2 + 12 3329 c.2934C>G c.(2932-2934)ACC>ACG p.T978T PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 978 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CGTTAATAACCCCAACTGCAT 0.453 NA 44 89 0 0 0.00361 0 0 COPG2 26958 broad.mit.edu 37 7 130295897 130295897 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:130295897C>G uc003vqh.1 - 9 754 c.664G>C c.(664-666)GGT>CGT p.G222R NM_012133 NP_036265 Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 222 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity 0 Melanoma(18;0.0435) GACTTGAGACCAGATTTAGTA 0.403 NA 14 46 0 0 0.001855 0 0 NUP205 23165 broad.mit.edu 37 7 135261743 135261743 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:135261743G>T uc003vsw.2 + 5 546 c.515G>T c.(514-516)CGC>CTC p.R172L NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 172 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 ATGACAACACGCTTTACAGAT 0.363 NA 28 27 2.85442e-18 4.81541e-18 0.002096 1 0 NUP205 23165 broad.mit.edu 37 7 135333220 135333220 + Silent SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:135333220A>G uc003vsw.2 + 43 5986 c.5955A>G c.(5953-5955)TTA>TTG p.L1985L NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1985 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 TTGAAGGATTATATTCAAAAG 0.413 NA 17 40 0 0 0.006122 0 0 UBN2 254048 broad.mit.edu 37 7 138946381 138946381 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:138946381C>A uc011kqr.1 + 6 1289 c.1289C>A c.(1288-1290)ACC>AAC p.T430N UBN2_uc003vuv.2_Missense_Mutation_p.T153N NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 430 ovary(1)|skin(1) 2 GAAAATGGAACCACCACCCAG 0.483 NA 15 42 1.3612e-06 1.66806e-06 0.003163 1 0 TRYX3 136541 broad.mit.edu 37 7 141955399 141955399 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:141955399C>T uc003vxb.2 - 2 455 c.135G>A c.(133-135)CTG>CTA p.L45L TRYX3_uc003vxc.3_Silent_p.L45L NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 45 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) GCGGGTGGATCAGGACTCCAG 0.498 NA 11 37 0 0 0.008291 0 0 PRSS1 5644 broad.mit.edu 37 7 142458452 142458452 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:142458452C>A uc003wak.2 + 2 104 c.87C>A c.(85-87)AAC>AAA p.N29K uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 29 Peptidase S1. N -> I (in PCTT).|N -> T (in PCTT). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGGGCTACAACTGTGAGGAGA 0.542 NA Hereditary_Pancreatitis 7 128 8.12818e-05 9.43344e-05 0.001984 1 0 CLCN1 1180 broad.mit.edu 37 7 143036384 143036384 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:143036384C>T uc003wcr.1 + 13 1527 c.1440C>T c.(1438-1440)CCC>CCT p.P480P CLCN1_uc011ktc.1_Silent_p.P92P NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 480 P -> L (in THD). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TGCCCATACCCTGCGGAGGCT 0.488 NA 67 142 0 0 0.00361 0 0 SSPO 23145 broad.mit.edu 37 7 149522153 149522153 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:149522153G>T uc010lpk.2 + 97 13940 c.13940G>T c.(13939-13941)GGA>GTA p.G4647V SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4647 TSP type-1 23. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCTCTGTGGAGGAGGCTGC 0.662 NA 6 6 0.00116845 0.00128792 0.001168 1 0 ACTR3B 57180 broad.mit.edu 37 7 152549293 152549293 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:152549293C>T uc003wle.1 + 10 1151 c.1034C>T c.(1033-1035)GCT>GTT p.A345V ACTR3B_uc003wlf.1_Intron|ACTR3B_uc003wlg.1_Missense_Mutation_p.A257V|ACTR3B_uc011kvp.1_Missense_Mutation_p.A257V NM_020445 NP_065178 Q9P1U1 ARP3B_HUMAN actin-related protein 3-beta isoform 1 345 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding 0 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GTGGTGGATGCTAGGCTGAGG 0.602 NA 9 42 0 0 0.008291 0 0 MYOM2 9172 broad.mit.edu 37 8 2027642 2027642 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:2027642C>T uc003wpx.3 + 13 1602 c.1464C>T c.(1462-1464)GCC>GCT p.A488A MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 488 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCTCCGCAGCCGTTCATTTGG 0.507 NA 24 145 0 0 0.007291 0 0 HTRA4 203100 broad.mit.edu 37 8 38832622 38832622 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:38832622C>T uc003xmj.2 + 2 654 c.539C>T c.(538-540)TCG>TTG p.S180L NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 180 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GTGGCGCCATCGGTGGTTCAC 0.572 NA 5 121 0 0 0.001168 0 0 SNTG1 54212 broad.mit.edu 37 8 51442811 51442811 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:51442811A>T uc010lxy.1 + 11 912 c.541A>T c.(541-543)AAC>TAC p.N181Y SNTG1_uc003xqs.1_Missense_Mutation_p.N181Y|SNTG1_uc010lxz.1_Missense_Mutation_p.N181Y|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 181 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CTACCATCCCAACAATACAGT 0.428 NA 6 31 0 0 0.001168 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733190 52733190 + Silent SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:52733190G>T uc003xqx.3 - 6 1136 c.795C>A c.(793-795)GCC>GCA p.A265A PCMTD1_uc011ldm.1_Silent_p.A135A|PCMTD1_uc003xqw.3_Silent_p.A265A|PCMTD1_uc011ldn.1_Silent_p.A77A|PCMTD1_uc010lya.2_Silent_p.A189A NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 265 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) GAATCCCCTTGGCCTGCATCT 0.418 NA 5 122 4.68919e-08 6.0249e-08 0.008291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764145 77764145 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:77764145C>A uc003yav.2 + 10 5240 c.4853C>A c.(4852-4854)ACC>AAC p.T1618N ZFHX4_uc003yau.1_Missense_Mutation_p.T1663N|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1618N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1618 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCAAAGATACCCATTTAGAT 0.453 NA HNSCC(33;0.089) 11 43 2.27111e-07 2.84897e-07 0.001368 1 0 GDF6 392255 broad.mit.edu 37 8 97172755 97172755 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:97172755G>A uc003yhp.2 - 1 266 c.166C>T c.(166-168)CGC>TGC p.R56C NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 56 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) TCACTGTCGCGCGGCGCCCGC 0.711 NA 32 50 0 0 0.004289 0 0 RGS22 26166 broad.mit.edu 37 8 101051226 101051226 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:101051226A>C uc003yjb.1 - 14 2294 c.2099T>G c.(2098-2100)CTG>CGG p.L700R RGS22_uc003yja.1_Missense_Mutation_p.L519R|RGS22_uc003yjc.1_Missense_Mutation_p.L688R|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 700 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATAAGCCTGCAGGTCAAACCA 0.348 NA 10 35 0 0 0.006214 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814054 106814054 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:106814054C>G uc003ymd.2 + 8 1767 c.1744C>G c.(1744-1746)CCA>GCA p.P582A ZFPM2_uc011lhs.1_Missense_Mutation_p.P313A NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 582 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGCTAAGTCCCCAGAGTTCCC 0.433 NA 33 99 0 0 0.004289 0 0 ANXA13 312 broad.mit.edu 37 8 124696964 124696964 + Splice_Site SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr8:124696964T>C uc003yqu.2 - 10 792 c.719_splice c.e10-1 p.V240_splice ANXA13_uc003yqt.2_Splice_Site_p.V281_splice NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) CACATCTCACTGGGCAGGACA 0.522 NA 13 30 0 0 0.00245 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921606 5921606 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:5921606C>A uc003zjq.3 - 8 4606 c.4390G>T c.(4390-4392)GTA>TTA p.V1464L KIAA2026_uc010mht.2_Missense_Mutation_p.V639L NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1464 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCACTGATTACATCTCCATTT 0.388 NA 18 48 0.00395357 0.00425461 0.003954 1 0 SNAPC3 6619 broad.mit.edu 37 9 15433602 15433602 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:15433602G>A uc003zlt.2 + 3 541 c.445G>A c.(445-447)GCC>ACC p.A149T SNAPC3_uc011lmt.1_Missense_Mutation_p.A149T|SNAPC3_uc003zlu.2_RNA NM_001039697 NP_001034786 Q92966 SNPC3_HUMAN small nuclear RNA activating complex, 149 regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding 0 GBM - Glioblastoma multiforme(50;2.15e-06) AATAGATCGAGCCTGCAGACA 0.348 NA 29 74 0 0 0.003755 0 0 KLHL9 55958 broad.mit.edu 37 9 21334168 21334168 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:21334168C>A uc003zoy.2 - 1 1262 c.691G>T c.(691-693)GAT>TAT p.D231Y KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 231 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GCAGCATAATCCATCCGAGGG 0.423 NA 22 43 3.8784e-16 6.35738e-16 0.001882 1 0 ACO1 48 broad.mit.edu 37 9 32424649 32424649 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:32424649T>A uc003zqw.3 + 10 1329 c.1174T>A c.(1174-1176)TGC>AGC p.C392S ACO1_uc010mjh.1_Missense_Mutation_p.C226S|ACO1_uc003zqx.3_Missense_Mutation_p.C392S|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 392 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CTTTGAGAGCTGCCTTGGAGC 0.502 NA 23 64 0 0 0.00333 0 0 TAF1L 138474 broad.mit.edu 37 9 32630549 32630549 + Missense_Mutation SNP T T C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:32630549T>C uc003zrg.1 - 1 5119 c.5029A>G c.(5029-5031)ACG>GCG p.T1677A uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1677 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTCGAGACGTACTGAGGGAT 0.483 NA 61 125 0 0 0.00361 0 0 TAF1L 138474 broad.mit.edu 37 9 32631092 32631092 + Missense_Mutation SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:32631092A>T uc003zrg.1 - 1 4576 c.4486T>A c.(4486-4488)TGT>AGT p.C1496S uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1496 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTTCATCACAGAGATCCAGC 0.408 NA 36 104 0 0 0.003271 0 0 SMC5 23137 broad.mit.edu 37 9 72879306 72879306 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:72879306G>T uc004ahr.2 + 2 389 c.272G>T c.(271-273)TGT>TTT p.C91F NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 91 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 AGCATTGTGTGTGCCATTTGC 0.373 NA 13 63 1.99824e-07 2.53668e-07 0.00499 1 0 SMC5 23137 broad.mit.edu 37 9 72965093 72965093 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:72965093G>A uc004ahr.2 + 23 3070 c.2953G>A c.(2953-2955)GAA>AAA p.E985K SMC5_uc011lry.1_Missense_Mutation_p.E130K NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 985 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 TCAACTGCATGAATTAACTCC 0.328 NA 9 72 0 0 0.004482 0 0 PCSK5 5125 broad.mit.edu 37 9 78710935 78710935 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:78710935G>C uc004ajz.2 + 8 1562 c.1024G>C c.(1024-1026)GGA>CGA p.G342R PCSK5_uc004ajy.2_Missense_Mutation_p.G342R|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 342 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 TGCAGAAAGCGGAAAGAAACC 0.512 NA 8 50 0 0 0.00308 0 0 C9orf79 286234 broad.mit.edu 37 9 90501444 90501444 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:90501444C>T uc004app.3 + 4 2077 c.2042C>T c.(2041-2043)TCT>TTT p.S681F C9orf79_uc004apo.1_Missense_Mutation_p.S493F NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 681 integral to membrane ovary(3) 3 TCCCAGCCTTCTGACTTTGCA 0.612 NA 9 40 0 0 0.008291 0 0 C9orf79 286234 broad.mit.edu 37 9 90501555 90501555 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:90501555G>T uc004app.3 + 4 2188 c.2153G>T c.(2152-2154)CGG>CTG p.R718L C9orf79_uc004apo.1_Missense_Mutation_p.R530L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 718 integral to membrane ovary(3) 3 GACCCAAGCCGGGATCAAGGC 0.572 NA 14 32 9.31168e-06 1.1153e-05 0.001855 1 0 NOL8 55035 broad.mit.edu 37 9 95062203 95062203 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:95062203C>T uc004arv.2 - 14 3608 c.3271G>A c.(3271-3273)GAA>AAA p.E1091K NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.E323K|NOL8_uc011ltw.1_Missense_Mutation_p.E1023K NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 1091 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TCTGTTTCTTCAGTAACATCT 0.378 NA 5 209 0 0 0.000602 0 0 TDRD7 23424 broad.mit.edu 37 9 100222868 100222868 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:100222868G>T uc004axj.2 + 7 1489 c.1264G>T c.(1264-1266)GGT>TGT p.G422C TDRD7_uc011lux.1_Missense_Mutation_p.G348C NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 422 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) GCAAGCACATGGTGATAATGA 0.418 NA 25 49 3.65163e-15 5.87958e-15 0.00632 1 0 GRIN3A 116443 broad.mit.edu 37 9 104449121 104449121 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:104449121C>A uc004bbp.1 - 2 1662 c.1061G>T c.(1060-1062)TGG>TTG p.W354L GRIN3A_uc004bbq.1_Missense_Mutation_p.W354L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 354 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCCCAGCACCCAACGAAGTTC 0.517 NA 7 23 0.00829132 0.00881819 0.008291 1 0 OR13D1 286365 broad.mit.edu 37 9 107457241 107457241 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:107457241C>A uc011lvs.1 + 1 539 c.539C>A c.(538-540)TCC>TAC p.S180Y NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 180 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTGCATGGTCCTGGATCATA 0.463 NA 19 81 5.3912e-06 6.46944e-06 0.006122 1 0 MUSK 4593 broad.mit.edu 37 9 113563055 113563055 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:113563055C>A uc004bey.2 + 14 2495 c.2397C>A c.(2395-2397)GGC>GGA p.G799G MUSK_uc004bez.1_Silent_p.G379G NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 799 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCTCCTATGGCCTGCAGCCCT 0.542 NA 9 29 0.00621372 0.00661964 0.006214 1 0 KIAA0368 23392 broad.mit.edu 37 9 114188022 114188022 + Splice_Site SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:114188022C>T uc004bfe.1 - 12 1670 c.1670_splice c.e12+1 p.T557_splice KIAA0368_uc010muc.1_Splice_Site_p.T379_splice NM_001080398 NP_001073867 KIAA0368 protein 0 TAAAGACTTACGTTATACAAA 0.308 NA 4 60 0 0 0.000602 0 0 ASTN2 23245 broad.mit.edu 37 9 119858355 119858355 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:119858355G>T uc004bjs.1 - 5 1345 c.1244C>A c.(1243-1245)ACG>AAG p.T415K ASTN2_uc004bjr.1_Missense_Mutation_p.T415K|ASTN2_uc004bjt.1_Missense_Mutation_p.T364K NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 415 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GTACTGCTCCGTGTAGAATGT 0.507 NA 10 44 7.03913e-09 9.4449e-09 0.001368 1 0 OR1N1 138883 broad.mit.edu 37 9 125288842 125288842 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:125288842C>A uc004bmn.1 - 1 731 c.731G>T c.(730-732)TGC>TTC p.C244F NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 ACAAACAACGCAGAGGTGGGA 0.552 NA 13 25 3.27435e-08 4.24132e-08 0.00245 1 0 CRB2 286204 broad.mit.edu 37 9 126137497 126137497 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:126137497T>A uc004bnx.1 + 12 3600 c.3508T>A c.(3508-3510)TGT>AGT p.C1170S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 1170 Extracellular (Potential).|EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CCTCTCCAGGTGTCAGGTCCC 0.617 NA 32 19 0 0 0.004878 0 0 LMX1B 4010 broad.mit.edu 37 9 129376847 129376847 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:129376847C>A uc004bqj.2 + 1 100 c.50C>A c.(49-51)GCC>GAC p.A17D LMX1B_uc004bqi.2_Missense_Mutation_p.A17D|LMX1B_uc011maa.1_Missense_Mutation_p.A17D NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 17 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCGGGCCCGCCACTCTGGGG 0.716 Pancreas(110;1796 2278 18357 20466) NA Nail-Patella_Syndrome 4 3 0.00909568 0.00960939 0.009096 1 0 CDK9 1025 broad.mit.edu 37 9 130550579 130550579 + Silent SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:130550579C>T uc004bse.2 + 5 642 c.519C>T c.(517-519)GCC>GCT p.A173A NM_001261 NP_001252 P50750 CDK9_HUMAN cyclin-dependent kinase 9 173 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 TGGCCCGGGCCTTCAGCCTGG 0.612 NA 5 19 0 0 0.000602 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670679 131670679 + Silent SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:131670679G>C uc004bwl.3 + 3 1490 c.1236G>C c.(1234-1236)ACG>ACC p.T412T LRRC8A_uc010myp.2_Silent_p.T412T|LRRC8A_uc010myq.2_Silent_p.T412T NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 412 LRR 2. pre-B cell differentiation integral to membrane 0 ACGAGTGGACGCTGGACAAGC 0.587 NA 6 38 0 0 0.001984 0 0 NUP214 8021 broad.mit.edu 37 9 134034830 134034830 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:134034830G>T uc004cag.2 + 18 2608 c.2497G>T c.(2497-2499)GAC>TAC p.D833Y NUP214_uc004cah.2_Missense_Mutation_p.D823Y|NUP214_uc004cai.2_Missense_Mutation_p.D263Y|NUP214_uc004caf.1_Missense_Mutation_p.D822Y|NUP214_uc010mzf.2_Missense_Mutation_p.D131Y NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 833 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGATGTTCTAGACTTGGAGTG 0.269 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 17 20 2.35188e-11 3.4545e-11 0.006122 1 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405802 136405802 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:136405802C>A uc011mdl.1 + 6 1052 c.495C>A c.(493-495)GCC>GCA p.A165A ADAMTSL2_uc004cei.2_Silent_p.A165A NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 165 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TGGTCCCCGCCCGCGACGGCA 0.572 NA 15 28 9.16793e-09 1.21223e-08 0.00499 1 0 VAV2 7410 broad.mit.edu 37 9 136633629 136633629 + Missense_Mutation SNP C C A rs145738821 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:136633629C>A uc004ces.2 - 29 2570 c.2524G>T c.(2524-2526)GTG>TTG p.V842L VAV2_uc004cer.2_Missense_Mutation_p.V803L NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 842 SH3 2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) ATCCTCACCACGTCACCCTCC 0.652 NA 14 38 0.000308642 0.000346813 0.003163 1 0 WDR5 11091 broad.mit.edu 37 9 137017125 137017125 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:137017125C>T uc004cey.2 + 9 776 c.605C>T c.(604-606)TCA>TTA p.S202L WDR5_uc004cez.2_Missense_Mutation_p.S202L NM_017588 NP_060058 P61964 WDR5_HUMAN WD repeat domain 5 202 WD 4. histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding 0 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) GACACCGCCTCAGGCCAGTGC 0.562 NA 5 140 0 0 0.000602 0 0 COL5A1 1289 broad.mit.edu 37 9 137676916 137676916 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:137676916G>C uc004cfe.2 + 30 2948 c.2566G>C c.(2566-2568)GGT>CGT p.G856R NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 856 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGTGACCCCGGTCCTCTGGG 0.647 NA 5 25 0 0 0.000602 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821830 5821830 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:5821830T>A uc010ndh.2 - 5 1390 c.889A>T c.(889-891)ACT>TCT p.T297S NLGN4X_uc004crp.2_Missense_Mutation_p.T317S|NLGN4X_uc004crq.2_Missense_Mutation_p.T297S|NLGN4X_uc010ndi.2_Missense_Mutation_p.T334S|NLGN4X_uc004crr.2_Missense_Mutation_p.T297S|NLGN4X_uc010ndj.2_Missense_Mutation_p.T297S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 297 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AATATCCGAGTGTACTTGGCC 0.557 NA 18 20 0 0 0.008871 0 0 DMD 1756 broad.mit.edu 37 X 32430028 32430028 + Silent SNP A A T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:32430028A>T uc004dda.1 - 30 4318 c.4074T>A c.(4072-4074)GCT>GCA p.A1358A DMD_uc004dcw.2_Silent_p.A14A|DMD_uc004dcx.2_Silent_p.A17A|DMD_uc004dcz.2_Silent_p.A1235A|DMD_uc004dcy.1_Silent_p.A1354A|DMD_uc004ddb.1_Silent_p.A1350A|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1358 Spectrin 9. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCCTCCTTACAGCCTAAAAAG 0.393 NA 18 3 0 0 0.007413 0 0 FAM47B 170062 broad.mit.edu 37 X 34962859 34962859 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:34962859C>A uc004ddi.1 + 1 1929 c.1911C>A c.(1909-1911)GAC>GAA p.D637E NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 637 ovary(3)|breast(1) 4 ACAAAGAAGACGTCACAGATG 0.378 NA 38 19 1.07121e-22 1.94099e-22 0.006999 1 0 CACNA1F 778 broad.mit.edu 37 X 49065117 49065117 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:49065117G>T uc004dnb.2 - 43 5076 c.5014C>A c.(5014-5016)CGC>AGC p.R1672S CACNA1F_uc010nip.2_Missense_Mutation_p.R1661S NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1672 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GAGCCCCGGCGAGCTGAGGGC 0.567 NA 12 9 4.36969e-10 6.09457e-10 0.001855 1 0 PPP1R3F 89801 broad.mit.edu 37 X 49142326 49142326 + Missense_Mutation SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:49142326G>A uc004dnh.1 + 4 1190 c.1174G>A c.(1174-1176)GCA>ACA p.A392T PPP1R3F_uc011mnd.1_Missense_Mutation_p.A63T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A46T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A46T NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 392 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) TGGCAACCCCGCAGAAGAAGG 0.592 NA 7 8 0 0 0.008291 0 0 HUWE1 10075 broad.mit.edu 37 X 53642720 53642720 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:53642720C>A uc004dsp.2 - 22 2436 c.2034G>T c.(2032-2034)ACG>ACT p.T678T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 678 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGATGGCAGTCGTTGCATCTG 0.458 NA 13 6 4.36969e-10 6.09457e-10 0.001855 1 0 HUWE1 10075 broad.mit.edu 37 X 53643940 53643940 + Missense_Mutation SNP C C T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:53643940C>T uc004dsp.2 - 21 2350 c.1948G>A c.(1948-1950)GAT>AAT p.D650N NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 650 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCAAGGGGATCAGAACTTCTC 0.403 NA 8 7 0 0 0.004482 0 0 KIF4A 24137 broad.mit.edu 37 X 69622523 69622523 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:69622523C>A uc004dyg.2 + 23 2724 c.2597C>A c.(2596-2598)GCC>GAC p.A866D KIF4A_uc010nkw.2_Missense_Mutation_p.A866D NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 866 Potential.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 GCCAAGTGTGCCCTGAAATAT 0.453 NA 10 4 2.17888e-05 2.58057e-05 0.006214 1 0 TBX22 50945 broad.mit.edu 37 X 79278703 79278703 + Missense_Mutation SNP A A G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:79278703A>G uc010nmg.1 + 3 454 c.320A>G c.(319-321)GAC>GGC p.D107G TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.D107G NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 107 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AGATTCCATGACATCGGGACT 0.488 NA 20 10 0 0 0.010504 0 0 DACH2 117154 broad.mit.edu 37 X 85950089 85950089 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:85950089C>A uc004eew.2 + 5 1008 c.838C>A c.(838-840)CAT>AAT p.H280N DACH2_uc004eex.2_Missense_Mutation_p.H267N|DACH2_uc010nmq.2_Missense_Mutation_p.H146N|DACH2_uc011mra.1_Missense_Mutation_p.H113N|DACH2_uc010nmr.2_Missense_Mutation_p.H61N NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TGGACCCCAACATGGAATTGC 0.468 NA 11 5 0.000151284 0.000174622 0.001855 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133828 91133828 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:91133828G>T uc004efk.1 + 2 3434 c.2589G>T c.(2587-2589)CAG>CAT p.Q863H PCDH11X_uc004efl.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efo.1_Missense_Mutation_p.Q863H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efm.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efn.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efh.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efj.1_Missense_Mutation_p.Q863H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 863 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AAAACAGGCAGATGATAATGA 0.378 NSCLC(38;925 1092 2571 38200 45895) NA 17 9 2.48551e-13 3.77275e-13 0.00499 1 0 CHRDL1 91851 broad.mit.edu 37 X 109919543 109919543 + Missense_Mutation SNP C C G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:109919543C>G uc004eou.3 - 12 1642 c.1293G>C c.(1291-1293)ATG>ATC p.M431I CHRDL1_uc004eov.2_Missense_Mutation_p.M420I|CHRDL1_uc004eow.2_Missense_Mutation_p.M429I|CHRDL1_uc010nps.2_Missense_Mutation_p.M430I|CHRDL1_uc004eot.2_Missense_Mutation_p.M350I|CHRDL1_uc011mss.1_Missense_Mutation_p.M345I NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 423 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GACTTGAACACATCTGGCTGA 0.473 NA 6 34 0 0 0.001984 0 0 UPF3B 65109 broad.mit.edu 37 X 118979178 118979178 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:118979178A>C uc004erz.1 - 4 529 c.452T>G c.(451-453)GTC>GGC p.V151G UPF3B_uc004esa.1_Missense_Mutation_p.V151G NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 151 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 GATAGTCCCGACTTTGGTATC 0.338 NA 36 22 0 0 0.007835 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215841 130215841 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:130215841T>A uc004evz.2 + 2 547 c.202T>A c.(202-204)TAC>AAC p.Y68N ARHGAP36_uc004ewa.2_Missense_Mutation_p.Y56N|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Y37N|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 68 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 AGAGACTGCTTACCACGAACT 0.572 NA 48 27 0 0 0.00361 0 0 GPR112 139378 broad.mit.edu 37 X 135429209 135429209 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:135429209G>C uc004ezu.1 + 6 3635 c.3344G>C c.(3343-3345)AGA>ACA p.R1115T GPR112_uc010nsb.1_Missense_Mutation_p.R910T|GPR112_uc010nsc.1_Missense_Mutation_p.R882T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1115 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATTCACTGAGACTCTCCACT 0.478 NA 47 36 0 0 0.00361 0 0 MAGEC1 9947 broad.mit.edu 37 X 140992863 140992863 + Splice_Site SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:140992863G>T uc004fbt.2 + 3 290 c.4_splice c.e3+1 p.G2_splice MAGEC1_uc010nsl.1_Splice_Site NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCCATCATGGGTGAGTTTCTC 0.547 NA HNSCC(15;0.026) 18 18 5.03518e-11 7.27813e-11 0.007413 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996099 140996099 + Missense_Mutation SNP C C A rs143297640 TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:140996099C>A uc004fbt.2 + 4 3195 c.2909C>A c.(2908-2910)CCT>CAT p.P970H MAGEC1_uc010nsl.1_Missense_Mutation_p.P37H NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 970 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAAGTGGACCCTGATGACTCC 0.478 NA HNSCC(15;0.026) 72 54 1.07363e-35 2.00832e-35 0.00361 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904367 144904367 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:144904367G>T uc004fcd.2 + 5 1414 c.424G>T c.(424-426)GAC>TAC p.D142Y SLITRK2_uc010nsp.2_Missense_Mutation_p.D142Y|SLITRK2_uc010nso.2_Missense_Mutation_p.D142Y|SLITRK2_uc011mwq.1_Missense_Mutation_p.D142Y|SLITRK2_uc011mwr.1_Missense_Mutation_p.D142Y|SLITRK2_uc011mws.1_Missense_Mutation_p.D142Y|SLITRK2_uc004fcg.2_Missense_Mutation_p.D142Y|SLITRK2_uc011mwt.1_Missense_Mutation_p.D142Y NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 142 Extracellular (Potential).|LRR 4. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGGCCGACTACAATTA 0.488 NA 22 18 1.55795e-14 2.45869e-14 0.001882 1 0 IL9R 3581 broad.mit.edu 37 X 155233519 155233519 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrX:155233519C>A uc004fnv.1 + 4 611 c.432C>A c.(430-432)CAC>CAA p.H144Q IL9R_uc010nvn.2_Missense_Mutation_p.H123Q|IL9R_uc004fnu.1_Missense_Mutation_p.T189K NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 144 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCCGGAGACACGGTGAGCAGC 0.622 NA 5 24 0.00116845 0.00128792 0.001168 1 0 ZFY 7544 broad.mit.edu 37 Y 2847526 2847526 + Missense_Mutation SNP A A C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrY:2847526A>C uc004fqj.2 + 8 2219 c.1898A>C c.(1897-1899)CAT>CCT p.H633P ZFY_uc011nan.1_Missense_Mutation_p.H442P|ZFY_uc010nwe.2_Missense_Mutation_p.H556P NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 633 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGTGTTTGCATTGCGACCAC 0.403 NA 25 10 0 0 0.00333 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967037 4967037 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chrY:4967037C>A uc004fqo.2 + 2 2152 c.1418C>A c.(1417-1419)GCT>GAT p.A473D PCDH11Y_uc010nwg.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fql.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.A473D|PCDH11Y_uc004fqp.1_Missense_Mutation_p.A244D NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 473 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GCTGCAGATGCTGGCAAACCT 0.403 NA 21 14 9.04072e-19 1.54153e-18 0.003271 1 0 USP33 23032 broad.mit.edu 37 1 78207349 78207349 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:78207349delC uc001dht.2 - 3 474 c.127delG c.(127-129)GATfs p.D43fs USP33_uc001dhu.2_Frame_Shift_Del_p.D12fs|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Frame_Shift_Del_p.D43fs NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 43 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 CCAACTGAATCCAAATGTGGA 0.313 Melanoma(152;72 1870 11110 26780 42647) NA 7 36 --- --- --- --- NA NA NA NA NA KCNA3 3738 broad.mit.edu 37 1 111216207 111216207 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:111216207delC uc001dzv.1 - 1 1449 c.1225delG c.(1225-1227)GTCfs p.V409fs NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 409 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAAGGATGACCCCAATAAAG 0.582 NA 18 27 --- --- --- --- NA NA NA NA NA NOS1AP 9722 broad.mit.edu 37 1 162326802 162326804 + In_Frame_Del DEL CTT CTT - rs41405649 by1000genomes TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:162326802_162326804delCTT uc001gbv.2 + 8 1202_1204 c.815_817delCTT c.(814-819)CCTTCT>CCT p.S276del NOS1AP_uc010pkr.1_In_Frame_Del_p.S271del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.S271del NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 276 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) ATGCTGCTCCCTTCTTCTTCCTC 0.512 NA 30 266 --- --- --- --- NA NA NA NA NA DUSP27 92235 broad.mit.edu 37 1 167097478 167097479 + Frame_Shift_Ins INS - - A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr1:167097478_167097479insA uc001geb.1 + 5 3110_3111 c.3110_3111insA c.(3109-3111)CCAfs p.P1037fs NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1037 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GAGGAGAGCCCAGAGCCCTACT 0.584 NA 25 46 --- --- --- --- NA NA NA NA NA MRGPRX1 259249 broad.mit.edu 37 11 18956058 18956058 + Frame_Shift_Del DEL G G - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr11:18956058delG uc001mpg.2 - 1 492 c.274delC c.(274-276)CATfs p.H92fs NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 92 Extracellular (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GAGATGGTATGGGGGATACTG 0.517 NA 16 142 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 16 15457788 15457788 + Frame_Shift_Del DEL G G - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr16:15457788delG uc010bvf.1 - 8 781 c.781delC c.(781-783)CTGfs p.L261fs uc010uzu.1_Frame_Shift_Del_p.L261fs RecName: Full=NPIP-like protein 1; NA TTGAGGCTCAGGGAGTTATCA 0.517 NA 26 17 --- --- --- --- NA NA NA NA NA SPAG7 9552 broad.mit.edu 37 17 4864095 4864095 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr17:4864095delC uc002gae.2 - 2 172 c.139delG c.(139-141)GAGfs p.E47fs SPAG7_uc002gad.2_5'UTR|SPAG7_uc002gaf.2_Frame_Shift_Del_p.E47fs NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 47 R3H.|Nuclear localization signal (Potential). nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 TTACGAAACTCCACTTTCTGT 0.478 NA 23 51 --- --- --- --- NA NA NA NA NA ZNF226 7769 broad.mit.edu 37 19 44679818 44679818 + Frame_Shift_Del DEL G G - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr19:44679818delG uc002oyp.2 + 6 547 c.403delG c.(403-405)GGGfs p.G135fs ZNF226_uc002oyq.2_Frame_Shift_Del_p.G18fs|ZNF226_uc002oyr.2_Frame_Shift_Del_p.G18fs|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Frame_Shift_Del_p.G135fs|ZNF226_uc002oyt.2_Frame_Shift_Del_p.G135fs NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) TTACCAGGTAGGGACAGAACT 0.383 Pancreas(115;581 1665 13228 19278 50070) NA 28 28 --- --- --- --- NA NA NA NA NA APOB 338 broad.mit.edu 37 2 21230280 21230280 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:21230280delC uc002red.2 - 26 9588 c.9460delG c.(9460-9462)GAAfs p.E3154fs NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3154 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCTGTTTTTTCCCATAGAGAG 0.348 NA 38 94 --- --- --- --- NA NA NA NA NA ZNF804A 91752 broad.mit.edu 37 2 185731105 185731106 + Frame_Shift_Del DEL GA GA - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr2:185731105_185731106delGA uc002uph.2 + 2 715_716 c.121_122delGA c.(121-123)GAGfs p.E41fs NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 41 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GGACTATGCTGAGAAGGAAAAT 0.356 NA 22 34 --- --- --- --- NA NA NA NA NA C21orf29 54084 broad.mit.edu 37 21 45941951 45941951 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr21:45941951delC uc002zfe.1 - 9 1447 c.1381delG c.(1381-1383)GCAfs p.A461fs C21orf29_uc010gpv.1_Frame_Shift_Del_p.A393fs NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 461 cell adhesion extracellular region structural molecule activity 0 AGCCGGGTTGCCGGGTTCCAC 0.617 NA 47 136 --- --- --- --- NA NA NA NA NA ARPP21 10777 broad.mit.edu 37 3 35835223 35835223 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:35835223delC uc003cgb.2 + 20 2476 c.2212delC c.(2212-2214)CCCfs p.P738fs ARPP21_uc003cga.2_Frame_Shift_Del_p.P719fs|ARPP21_uc011axy.1_Frame_Shift_Del_p.P739fs|ARPP21_uc003cgf.2_Frame_Shift_Del_p.P574fs|ARPP21_uc003cgg.2_Frame_Shift_Del_p.P261fs NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 738 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TCAAGGACTGCCCCAGCAGTC 0.463 NA 14 44 --- --- --- --- NA NA NA NA NA CELSR3 1951 broad.mit.edu 37 3 48688324 48688324 + Splice_Site DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr3:48688324delC uc003cul.2 - 15 6651 c.6370_splice c.e15+1 p.V2124_splice CELSR3_uc003cuf.1_Splice_Site_p.V2194_splice|CELSR3_uc010hkg.2_Splice_Site_p.V102_splice NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCCTGCTCACCCCGGCAGCC 0.657 NA 22 40 --- --- --- --- NA NA NA NA NA SLIT2 9353 broad.mit.edu 37 4 20550132 20550132 + Frame_Shift_Del DEL A A - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr4:20550132delA uc003gpr.1 + 23 2571 c.2367delA c.(2365-2367)ATAfs p.I789fs SLIT2_uc003gps.1_Frame_Shift_Del_p.I781fs NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 789 LRR 18. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACAACAGAATAAGCACGCTTT 0.363 NA 10 43 --- --- --- --- NA NA NA NA NA RFESD 317671 broad.mit.edu 37 5 94990059 94990059 + Frame_Shift_Del DEL G G - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr5:94990059delG uc003klf.2 + 4 1590 c.198delG c.(196-198)TTGfs p.L66fs RFESD_uc003klg.2_Frame_Shift_Del_p.L119fs|RFESD_uc011cun.1_Frame_Shift_Del_p.L119fs|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron NM_173362 NP_775498 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing isoform 2 66 Rieske 2.|Rieske 1. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity 0 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) CTTTACATTTGGGAGATATAG 0.244 NA 30 43 --- --- --- --- NA NA NA NA NA HOXA3 3200 broad.mit.edu 37 7 27149826 27149827 + Frame_Shift_Ins INS - - G TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:27149826_27149827insG uc011jzl.1 - 2 633_634 c.433_434insC c.(433-435)CTGfs p.L145fs HOXA3_uc011jzk.1_5'UTR|HOXA3_uc003syk.2_Frame_Shift_Ins_p.L145fs NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 145 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 TGAGTTGAGCAGGGGGCTCTTG 0.46 Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 21 53 --- --- --- --- NA NA NA NA NA CTTNBP2 83992 broad.mit.edu 37 7 117407198 117407198 + Frame_Shift_Del DEL C C - TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:117407198delC uc003vjf.2 - 9 2903 c.2811delG c.(2809-2811)GGGfs p.G937fs NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 937 ANK 6. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTGGCTCAAGCCCTCCGTGCC 0.443 NA 29 75 --- --- --- --- NA NA NA NA NA TBXAS1 6916 broad.mit.edu 37 7 139719828 139719830 + In_Frame_Del DEL CCG CCG - rs13306050 byFrequency TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 CCG CCG - - CCG CCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr7:139719828_139719830delCCG uc011kqv.1 + 14 1836_1838 c.1672_1674delCCG c.(1672-1674)CCGdel p.P558del TBXAS1_uc003vvh.2_In_Frame_Del_p.P512del|TBXAS1_uc010lne.2_In_Frame_Del_p.P444del|TBXAS1_uc003vvi.2_In_Frame_Del_p.P512del|TBXAS1_uc003vvj.2_In_Frame_Del_p.R458del|TBXAS1_uc011kqw.1_In_Frame_Del_p.P492del NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 511 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) ATTTTAGGTACCGCTGCAGCTAG 0.315 NA 7 36 --- --- --- --- NA NA NA NA NA TRPM6 140803 broad.mit.edu 37 9 77502755 77502756 + Frame_Shift_Ins INS - - T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c540f87-5981-4b7a-b1ab-30c2056c785e 6069cecc-5fc1-47fb-b64b-11e36726037b g.chr9:77502755_77502756insT uc004ajl.1 - 1 255_256 c.17_18insA c.(16-18)GTCfs p.V6fs TRPM6_uc004ajk.1_5'Flank|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Frame_Shift_Ins_p.V6fs|TRPM6_uc010mpd.1_Frame_Shift_Ins_p.V6fs|TRPM6_uc010mpe.1_Frame_Shift_Ins_p.V6fs|TRPM6_uc004ajn.1_Frame_Shift_Ins_p.V6fs NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 6 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AGCGCTCCAAGACAGGTTGTTC 0.564 NA 23 124 --- --- --- --- NA NA NA NA NA