Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CELA3B 23436 broad.mit.edu 37 1 22313089 22313089 + Silent SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:22313089C>G uc001bfk.2 + 7 823 c.708C>G c.(706-708)ACC>ACG p.T236T CELA3B_uc009vqf.2_Intron NM_007352 NP_031378 P08861 CEL3B_HUMAN elastase 3B, pancreatic preproprotein 236 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 ATGGCGTGACCAGCTTTGTTT 0.607 NA 11 30 0 0 0 0 LUZP1 7798 broad.mit.edu 37 1 23419483 23419483 + Silent SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:23419483G>T uc001bgk.2 - 4 1656 c.1272C>A c.(1270-1272)CCC>CCA p.P424P LUZP1_uc010odv.1_Silent_p.P424P|LUZP1_uc001bgl.2_Silent_p.P424P|LUZP1_uc001bgm.1_Silent_p.P424P NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 424 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TGGTGAAACTGGGAGAAGAAA 0.507 NA 6 177 0.00198382 0.00967502 1 0 IGSF3 3321 broad.mit.edu 37 1 117131576 117131576 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:117131576C>G uc001egr.1 - 8 2885 c.2180G>C c.(2179-2181)GGC>GCC p.G727A IGSF3_uc001egq.1_Missense_Mutation_p.G747A|IGSF3_uc001egs.1_Missense_Mutation_p.G400A NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 727 Ig-like C2-type 6.|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) GATAAGCTTGCCATCGGCATC 0.547 NA 29 98 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147092754 147092754 + Silent SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:147092754T>A uc001epq.2 + 8 3533 c.2793T>A c.(2791-2793)CCT>CCA p.P931P BCL9_uc010ozr.1_Silent_p.P857P NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 931 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CCCCGTCACCTGGATGGACCT 0.582 NA T IGH@|IGL@ B-ALL 17 114 0 0 0 0 NBPF15 284565 broad.mit.edu 37 1 148594624 148594624 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:148594624T>C uc001esc.2 + 19 2486 c.1997T>C c.(1996-1998)GTC>GCC p.V666A NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 666 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) CAGATGGGAGTCATATTCCCA 0.448 NA 3 132 0 0 0 0 BCAN 63827 broad.mit.edu 37 1 156616600 156616600 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:156616600C>T uc001fpp.2 + 3 435 c.99C>T c.(97-99)CGC>CGT p.R33R BCAN_uc001fpo.2_Silent_p.R33R NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 33 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGAGGACCGCGCTTTTCGCG 0.697 NA 5 20 0 0 0 0 NES 10763 broad.mit.edu 37 1 156640375 156640375 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:156640375G>A uc001fpq.2 - 4 3738 c.3605C>T c.(3604-3606)CCT>CTT p.P1202L NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1202 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGAGGCCAAGGTGAAGGGGC 0.647 NA 5 104 0 0 0 0 FCRL1 115350 broad.mit.edu 37 1 157776893 157776893 + Silent SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:157776893G>A uc001frg.2 - 2 164 c.51C>T c.(49-51)GCC>GCT p.A17A FCRL1_uc001frh.2_Silent_p.A17A|FCRL1_uc001fri.2_Silent_p.A17A|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 17 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCAACTCACCGGCAGGTTCAC 0.483 NA 15 73 0 0 0 0 CD1C 911 broad.mit.edu 37 1 158262428 158262428 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:158262428C>T uc001fru.2 + 4 945 c.653C>T c.(652-654)TCT>TTT p.S218F CD1C_uc001frv.2_Missense_Mutation_p.S21F NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 218 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) AGCCTTGGGTCTGGCCAGCTG 0.522 NA 6 66 0 0 0 0 OR10J1 26476 broad.mit.edu 37 1 159409809 159409809 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:159409809C>T uc010piv.1 + 1 261 c.261C>T c.(259-261)GTC>GTT p.V87V uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 87 Extracellular (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) ATACATTGGTCATTCTCCCAA 0.458 NA 7 77 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197390386 197390386 + Silent SNP C C T rs62636282 byFrequency TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:197390386C>T uc001gtz.2 + 6 1563 c.1428C>T c.(1426-1428)ACC>ACT p.T476T CRB1_uc010poz.1_Silent_p.T407T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.T364T|CRB1_uc010ppb.1_Silent_p.T476T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.T125T NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 476 Extracellular (Potential).|EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTGGCTACACCGGGTCCCTGT 0.502 NA 12 57 0 0 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213436131 213436131 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:213436131C>G uc010ptr.1 + 14 3221 c.3062C>G c.(3061-3063)TCT>TGT p.S1021C RPS6KC1_uc001hkd.2_Missense_Mutation_p.S1009C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S840C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S556C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S840C NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1021 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GAATGTGTCTCTGAAGAGGCT 0.428 NA 22 42 0 0 0 0 TRIM58 25893 broad.mit.edu 37 1 248028119 248028119 + Missense_Mutation SNP C C A rs138082117 byFrequency TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr1:248028119C>A uc001ido.2 + 3 677 c.629C>A c.(628-630)GCG>GAG p.A210E NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 210 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGGAGCGAGCGACGCTGCAG 0.652 NA 14 35 9.31e-06 4.86e-05 1 0 MYO3A 53904 broad.mit.edu 37 10 26462739 26462739 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr10:26462739C>G uc001isn.2 + 30 3906 c.3546C>G c.(3544-3546)AAC>AAG p.N1182K MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1182 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TGGAGAGTAACAACAGAGTGT 0.388 NA 8 42 0 0 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70951445 70951445 + Missense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr10:70951445G>T uc001jpe.1 + 6 831 c.776G>T c.(775-777)CGT>CTT p.R259L SUPV3L1_uc010qjd.1_Missense_Mutation_p.R128L NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 259 Helicase ATP-binding. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 GGTGAAGAGCGTGTGACAGTT 0.368 NA 12 49 2.32e-05 0.000120195 1 0 SH2D4B 387694 broad.mit.edu 37 10 82329963 82329963 + Missense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr10:82329963G>T uc001kck.1 + 2 668 c.238G>T c.(238-240)GTC>TTC p.V80F SH2D4B_uc001kcl.1_Missense_Mutation_p.V31F NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 79 0 Colorectal(32;0.229) CGAGGTCTGGGTCTGGATCAT 0.532 NA 31 45 2.85e-18 1.63e-17 1 0 PLEKHA1 59338 broad.mit.edu 37 10 124189449 124189449 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr10:124189449G>A uc001lge.1 + 12 1333 c.1210G>A c.(1210-1212)GTG>ATG p.V404M PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.V404M NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 404 B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTCAGTGACGTGTGAGGCAG 0.498 NA 9 38 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129903164 129903164 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr10:129903164C>G uc001lke.2 - 13 7135 c.6940G>C c.(6940-6942)GAA>CAA p.E2314Q MKI67_uc001lkf.2_Missense_Mutation_p.E1954Q|MKI67_uc009yav.1_Missense_Mutation_p.E1889Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1464Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2314 16 X 122 AA approximate repeats.|11. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCCAGGTCTTCTAGAGCCTGG 0.493 NA 63 269 0 0 0 0 OR52N4 390072 broad.mit.edu 37 11 5776833 5776833 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:5776833C>A uc001mbu.2 + 1 911 c.863C>A c.(862-864)CCC>CAC p.P288H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 288 Helical; Name=7; (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) CTCCTACCACCCACTATGAAC 0.448 NA 41 31 6.24e-21 3.58e-20 1 0 HPX 3263 broad.mit.edu 37 11 6452915 6452915 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:6452915G>A uc001mdg.2 - 9 1146 c.1085C>T c.(1084-1086)GCG>GTG p.A362V HPX_uc001mdf.2_Missense_Mutation_p.A108V|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 362 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GATAAAGGCCGCATCCACAGA 0.557 NA 38 24 0 0 0 0 SYT9 143425 broad.mit.edu 37 11 7324589 7324589 + Silent SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:7324589G>A uc001mfe.2 + 2 702 c.465G>A c.(463-465)CAG>CAA p.Q155Q SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 155 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCCGCGTGCAGCGCCAAGTCA 0.597 NA 12 15 0 0 0 0 MUC15 143662 broad.mit.edu 37 11 26587444 26587444 + Splice_Site SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:26587444C>T uc001mqx.2 - 2 229 c.-37_splice c.e2-1 ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Splice_Site_p.Y15_splice|MUC15_uc001mqy.2_Splice_Site_p.Y15_splice NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTAAAGGAATCTGAAAGAAAA 0.274 NA 9 32 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30033487 30033487 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:30033487C>A uc001msk.2 - 2 1891 c.739G>T c.(739-741)GTC>TTC p.V247F NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 247 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCAAAGGGGACATTGACTGGC 0.498 NA 6 118 5.18e-06 2.71e-05 1 0 OR4A15 81328 broad.mit.edu 37 11 55135451 55135451 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:55135451T>C uc010rif.1 + 1 92 c.92T>C c.(91-93)ATG>ACG p.M31T NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 31 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M31I(1) ovary(1)|skin(1) 2 GAAGAACACATGAAAAATAAG 0.383 NA 8 47 0 0 0 0 OR5I1 10798 broad.mit.edu 37 11 55703122 55703122 + Missense_Mutation SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:55703122A>G uc010ris.1 - 1 755 c.755T>C c.(754-756)ATC>ACC p.I252T NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCCTTGGTAGATCGTCACTGA 0.428 NA 5 17 0 0 0 0 LPXN 9404 broad.mit.edu 37 11 58322350 58322350 + Silent SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:58322350A>G uc001nmw.2 - 4 427 c.282T>C c.(280-282)GAT>GAC p.D94D LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.D99D|LPXN_uc010rkk.1_Silent_p.D74D NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 94 LD motif 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CCATGAGCTCATCCAACTGAG 0.502 NA 11 88 0 0 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265032 67265032 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:67265032C>T uc001olx.2 - 12 2090 c.1901G>A c.(1900-1902)AGC>AAC p.S634N PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.S634N|PITPNM1_uc001olz.2_Missense_Mutation_p.S634N NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 634 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 GGCCATGTCGCTGGGGATGCG 0.672 NA 11 118 0 0 0 0 SERPINH1 871 broad.mit.edu 37 11 75280100 75280100 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:75280100C>T uc001owr.2 + 4 1067 c.838C>T c.(838-840)CGC>TGC p.R280C SERPINH1_uc009yuf.2_Missense_Mutation_p.R280C|SERPINH1_uc009yug.2_Missense_Mutation_p.R280C|SERPINH1_uc001ows.2_Missense_Mutation_p.R280C|SERPINH1_uc001owt.2_Missense_Mutation_p.R63C NM_001235 NP_001226 P50454 SERPH_HUMAN serine (or cysteine) proteinase inhibitor, clade 280 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity ovary(2) 2 Ovarian(111;0.11) GCCTCTCGAGCGCCTTGAAAA 0.562 NA 27 33 0 0 0 0 KIAA1826 84437 broad.mit.edu 37 11 105880416 105880416 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:105880416G>A uc001piy.2 - 3 1057 c.884C>T c.(883-885)ACA>ATA p.T295I KIAA1826_uc001piz.2_Missense_Mutation_p.T295I NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 295 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) TAACTTCTCTGTTTCTATGTC 0.408 NA 12 134 0 0 0 0 FDXACB1 91893 broad.mit.edu 37 11 111746387 111746387 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr11:111746387C>A uc001pmc.3 - 5 1431 c.1134G>T c.(1132-1134)CAG>CAT p.Q378H ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q229H NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 378 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 TGTGGCACTTCTGAAAGACAG 0.443 NA 13 213 0.00010058 0.000514889 1 0 AICDA 57379 broad.mit.edu 37 12 8757850 8757850 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr12:8757850G>A uc001qur.2 - 3 467 c.388C>T c.(388-390)CAC>TAC p.H130Y AICDA_uc001qup.1_Missense_Mutation_p.H125Y|AICDA_uc001quq.1_Missense_Mutation_p.H125Y|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 130 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) CCGGCGCGGTGCAGCCGCCGC 0.647 NA Immune_Deficiency_with_Hyper-IgM 22 23 0 0 0 0 ERBB3 2065 broad.mit.edu 37 12 56478837 56478837 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr12:56478837C>G uc001sjh.2 + 3 486 c.293C>G c.(292-294)CCA>CGA p.P98R ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P39R|ERBB3_uc001sjg.2_Missense_Mutation_p.P98R NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 98 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCTACTCTACCATTGCCCAAC 0.507 NA 6 112 0 0 0 0 ANKS1B 56899 broad.mit.edu 37 12 100173680 100173680 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr12:100173680C>T uc001tge.1 - 6 1233 c.816G>A c.(814-816)CAG>CAA p.Q272Q ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 272 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGAGAGATTTCTGAGATGGAT 0.343 NA 31 64 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101726002 101726002 + Missense_Mutation SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr13:101726002T>A uc001vox.1 - 37 4320 c.4131A>T c.(4129-4131)AAA>AAT p.K1377N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1377 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CGGTAATAGCTTTTCCAGCCG 0.353 NA 4 26 0 0 0 0 OR4K1 79544 broad.mit.edu 37 14 20404652 20404652 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr14:20404652C>G uc001vwj.1 + 1 827 c.827C>G c.(826-828)ACT>AGT p.T276S NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTGTTCTACACTGTTTGTACT 0.428 NA 10 332 0 0 0 0 LRP10 26020 broad.mit.edu 37 14 23346447 23346447 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr14:23346447T>C uc001whd.2 + 7 2406 c.1853T>C c.(1852-1854)ATC>ACC p.I618T LRP10_uc001whe.2_Intron NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 618 Pro-rich.|Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CCACTGCCCATCAAGGCTCCC 0.657 NA 7 156 0 0 0 0 NIN 51199 broad.mit.edu 37 14 51237120 51237120 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr14:51237120C>A uc001wym.2 - 12 1611 c.1420G>T c.(1420-1422)GCC>TCC p.A474S NIN_uc001wyi.2_Missense_Mutation_p.A474S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.A474S|NIN_uc010tqp.1_Missense_Mutation_p.A480S|NIN_uc001wyo.2_Missense_Mutation_p.A474S|NIN_uc001wyp.1_Missense_Mutation_p.A436S NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 474 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) AAAGAGAGGGCAAGGCGGTCC 0.483 NA T PDGFRB MPD 5 27 0.000602214 0.00299364 1 0 FUT8 2530 broad.mit.edu 37 14 66136078 66136078 + Nonsense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr14:66136078C>T uc001xin.2 + 7 1912 c.715C>T c.(715-717)CGA>TGA p.R239* FUT8_uc001xio.2_Nonsense_Mutation_p.R239*|FUT8_uc010tsp.1_Nonsense_Mutation_p.R76*|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R239*|FUT8_uc001xiq.2_Nonsense_Mutation_p.R110*|FUT8_uc001xis.2_5'Flank NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 239 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGGCACCCAGCGAACACTCAT 0.473 NA 21 68 0 0 0 0 C14orf68 283600 broad.mit.edu 37 14 100793680 100793680 + Silent SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr14:100793680C>G uc001yhc.2 + 4 373 c.300C>G c.(298-300)CTC>CTG p.L100L C14orf68_uc001yhd.2_5'UTR NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 100 Solcar 2.|Helical; Name=3; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) ACATCACGCTCTCGGGATGCG 0.662 NA 16 60 0 0 0 0 ACTC1 70 broad.mit.edu 37 15 35086901 35086901 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:35086901C>T uc001ziu.1 - 2 352 c.109G>A c.(109-111)GTG>ATG p.V37M uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 37 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GGGCGGCCCACGATGGACGGG 0.687 NA 9 25 0 0 0 0 WDR72 256764 broad.mit.edu 37 15 53907901 53907901 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:53907901C>G uc002acj.2 - 15 2544 c.2502G>C c.(2500-2502)TTG>TTC p.L834F WDR72_uc010bfi.1_Missense_Mutation_p.L834F NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 834 lung(1)|skin(1) 2 all cancers(107;0.0511) TATCTTCATTCAAAGAAATTC 0.343 NA 9 75 0 0 0 0 ADAM10 102 broad.mit.edu 37 15 58933155 58933155 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:58933155T>C uc002afd.1 - 8 1277 c.833A>G c.(832-834)AAT>AGT p.N278S ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 278 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) AGCAGTTGTATTGATCTAAAA 0.373 NA 3 38 0 0 0 0 ADAM10 102 broad.mit.edu 37 15 58971446 58971446 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:58971446C>G uc002afd.1 - 4 805 c.361G>C c.(361-363)GAT>CAT p.D121H ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.D121H NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 121 Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) AATCTTCCATCAATAACAGAC 0.358 NA 4 42 0 0 0 0 FOXB1 27023 broad.mit.edu 37 15 60297874 60297874 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:60297874T>C uc002agj.1 + 2 1191 c.712T>C c.(712-714)TAC>CAC p.Y238H FOXB1_uc010bgh.1_Intron NM_012182 NP_036314 Q99853 FOXB1_HUMAN forkhead box B1 238 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning 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(1)|central_nervous_system(1) 2 GAGTGGCGACTACAGCGCCTA 0.706 NA 9 11 0 0 0 0 IQCH 64799 broad.mit.edu 37 15 67687836 67687836 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:67687836C>T uc002aqo.1 + 13 1887 c.1840C>T c.(1840-1842)CGT>TGT p.R614C IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 614 skin(3)|ovary(1) 4 Colorectal(3;0.0856) TGGAGGCAAACGTGTCTTTGA 0.448 NA 9 68 0 0 0 0 FAH 2184 broad.mit.edu 37 15 80467433 80467433 + Nonsense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr15:80467433G>T uc002bfj.2 + 11 995 c.913G>T c.(913-915)GGA>TGA p.G305* FAH_uc002bfk.1_Nonsense_Mutation_p.G305*|FAH_uc002bfm.1_Nonsense_Mutation_p.G305*|FAH_uc002bfn.1_Nonsense_Mutation_p.G235*|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 305 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 TAACCTGAAAGGTATGTTGTA 0.562 NA Tyrosinemia_type_1 7 101 0.00198382 0.00967502 1 0 RGS11 8786 broad.mit.edu 37 16 319529 319529 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:319529G>A uc002cgj.1 - 16 1265 c.1262C>T c.(1261-1263)GCT>GTT p.A421V ITFG3_uc010uud.1_RNA|RGS11_uc002cgi.1_Missense_Mutation_p.A400V|RGS11_uc010bqs.1_Missense_Mutation_p.A410V|RGS11_uc002cgk.1_Missense_Mutation_p.A237V NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 421 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CGGGATCCCAGCCTCTGCCAG 0.652 NA 16 15 0 0 0 0 IFT140 9742 broad.mit.edu 37 16 1561083 1561083 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:1561083C>T uc002cmb.2 - 31 4613 c.4251G>A c.(4249-4251)CCG>CCA p.P1417P IFT140_uc002clz.2_Silent_p.P1030P NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1417 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) CCACGGCCTGCGGGCTCACGT 0.662 NA 6 8 0 0 0 0 CIITA 4261 broad.mit.edu 37 16 10995979 10995979 + Missense_Mutation SNP C C T rs149076617 TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:10995979C>T uc002dai.3 + 7 699 c.566C>T c.(565-567)GCG>GTG p.A189V CIITA_uc002daj.3_Missense_Mutation_p.A190V|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A189V|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.A189V NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 189 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CCACTGCCTGCGCTGTTCAAC 0.622 NA T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 8 78 0 0 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715663 15715663 + Missense_Mutation SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:15715663A>G uc002ddr.2 - 12 2759 c.2566T>C c.(2566-2568)TAC>CAC p.Y856H KIAA0430_uc002ddq.2_Missense_Mutation_p.Y690H|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y852H|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y855H NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 855 RRM. peroxisome nucleotide binding|RNA binding 0 CCAATTTTGTATCTGTGGAGG 0.458 NA 25 40 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65026844 65026844 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:65026844G>A uc002eoi.2 - 5 1051 c.617C>T c.(616-618)CCC>CTC p.P206L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.P206L|CDH11_uc010vin.1_Missense_Mutation_p.P80L NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 206 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGAAAAATAGGGTTGTCCTTC 0.438 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 5 52 0 0 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032990 82032990 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr16:82032990C>A uc002fgu.2 - 3 1036 c.908G>T c.(907-909)CGA>CTA p.R303L NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 303 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 GTTGTAGAGTCGACCCAAAAT 0.463 NA 23 21 4.4e-07 2.35e-06 1 0 CAMTA2 23125 broad.mit.edu 37 17 4883671 4883671 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr17:4883671C>T uc002gah.1 - 9 1054 c.946G>A c.(946-948)GGG>AGG p.G316R CAMTA2_uc010cku.1_Missense_Mutation_p.G339R|CAMTA2_uc002gag.1_Missense_Mutation_p.G315R|CAMTA2_uc002gai.1_Missense_Mutation_p.G318R|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Missense_Mutation_p.G129R NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 316 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GAAGAACCCCCTCGAGAAGTG 0.592 NA OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 15 0 0 0 0 JUP 3728 broad.mit.edu 37 17 39927914 39927914 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr17:39927914C>G uc002hxq.2 - 2 470 c.193G>C c.(193-195)GTG>CTG p.V65L JUP_uc010wfs.1_Missense_Mutation_p.V65L|JUP_uc002hxr.2_Missense_Mutation_p.V65L|JUP_uc002hxs.2_Missense_Mutation_p.V65L NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 65 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTGGGGGGCACCCCCTGGGTG 0.612 NA 17 37 0 0 0 0 KIAA1267 284058 broad.mit.edu 37 17 44110827 44110827 + Splice_Site SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr17:44110827C>T uc002ikb.2 - 11 2752 c.2667_splice c.e11-1 p.S889_splice KIAA1267_uc002ikc.2_Splice_Site_p.S889_splice|KIAA1267_uc002ikd.2_Splice_Site_p.S889_splice|KIAA1267_uc010dav.2_Splice_Site_p.S888_splice|KIAA1267_uc010wkb.1_Splice_Site_p.S220_splice|KIAA1267_uc010wkc.1_Splice_Site_p.S157_splice NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CTCCCGCCAGCTGCAAAACCA 0.502 NA 11 24 0 0 0 0 P4HB 5034 broad.mit.edu 37 17 79804356 79804356 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr17:79804356C>T uc002kbn.1 - 7 1202 c.1005G>A c.(1003-1005)ACG>ACA p.T335T P4HB_uc002kbl.1_Silent_p.T12T|P4HB_uc002kbm.1_Silent_p.T12T NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 335 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCCTCTCTGCCGTCAGCTCCT 0.632 NA 36 98 0 0 0 0 SLC14A2 8170 broad.mit.edu 37 18 43249308 43249308 + Missense_Mutation SNP A A C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr18:43249308A>C uc010dnj.2 + 17 2395 c.2074A>C c.(2074-2076)AAG>CAG p.K692Q SLC14A2_uc002lbe.2_Missense_Mutation_p.K692Q NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 692 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CATCTTCAGCAAGTGGGACCT 0.552 NA 8 132 0 0 0 0 GPX4 2879 broad.mit.edu 37 19 1105714 1105714 + Missense_Mutation SNP G G C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:1105714G>C uc010xgg.1 + 5 489 c.382G>C c.(382-384)GAT>CAT p.D128H GPX4_uc010xgh.1_Missense_Mutation_p.D128H|GPX4_uc010xgi.1_Missense_Mutation_p.D165H NM_002085 NP_002076 P36969 GPX4_HUMAN glutathione peroxidase 4 isoform A precursor 128 multicellular organismal development|phospholipid metabolic process glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glutathione(DB00143) CGTCAAATTCGATATGTTCAG 0.587 NA 5 13 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9045870 9045870 + Nonsense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:9045870C>A uc002mkp.2 - 5 35965 c.35761G>T c.(35761-35763)GAA>TAA p.E11921* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11923 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 GGTGAGGTTTCTGTGTTCCAG 0.498 NA 50 92 1.07e-20 6.14e-20 1 0 ZNF20 7568 broad.mit.edu 37 19 12244792 12244792 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:12244792C>T uc002mtf.1 - 4 352 c.209G>A c.(208-210)AGA>AAA p.R70K ZNF20_uc002mte.1_Missense_Mutation_p.R35K|ZNF20_uc002mtg.1_Missense_Mutation_p.R70K NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGTTTCTCTCTCATAAGACT 0.299 NA 19 54 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13345741 13345741 + Missense_Mutation SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:13345741A>G uc010dze.2 - 34 5482 c.5246T>C c.(5245-5247)CTC>CCC p.L1749P CACNA1A_uc010xnd.1_Missense_Mutation_p.L454P|CACNA1A_uc002mwx.3_Missense_Mutation_p.L454P|CACNA1A_uc010dzc.2_Missense_Mutation_p.L1274P|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1748P|CACNA1A_uc002mwv.3_Missense_Mutation_p.L265P NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1749 Extracellular (Potential).|IV. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCACCGGAAGAGAAGCATGAG 0.522 NA OREG0025293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 80 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13414674 13414674 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:13414674C>T uc010dze.2 - 16 2250 c.2014G>A c.(2014-2016)GAG>AAG p.E672K CACNA1A_uc010dzc.2_Missense_Mutation_p.E197K|CACNA1A_uc002mwy.3_Missense_Mutation_p.E671K|CACNA1A_uc010xne.1_Missense_Mutation_p.E197K NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 672 Extracellular (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TACATGACCTCGTTCCAGTCT 0.577 NA 14 143 0 0 0 0 BRD4 23476 broad.mit.edu 37 19 15366308 15366308 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:15366308C>T uc002nar.2 - 10 2069 c.1847G>A c.(1846-1848)CGG>CAG p.R616Q BRD4_uc002nas.2_Missense_Mutation_p.R616Q|BRD4_uc002nat.3_Missense_Mutation_p.R616Q NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 616 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GCTGAGCTGCCGCTTCTCCTC 0.597 NA T NUT|C15orf55 lethal midline carcinoma of young people 26 95 0 0 0 0 NWD1 284434 broad.mit.edu 37 19 16860942 16860942 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:16860942G>A uc002neu.3 + 6 1911 c.1489G>A c.(1489-1491)GGA>AGA p.G497R NWD1_uc002net.3_Missense_Mutation_p.G362R|NWD1_uc002nev.3_Missense_Mutation_p.G291R Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 497 NACHT. ATP binding skin(3)|ovary(2)|pancreas(2) 7 GCCCCTTTCCGGAAACCAAGG 0.632 NA 6 93 0 0 0 0 GMIP 51291 broad.mit.edu 37 19 19749068 19749068 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:19749068C>T uc002nnd.2 - 9 806 c.689G>A c.(688-690)CGC>CAC p.R230H GMIP_uc010xrb.1_Missense_Mutation_p.R230H|GMIP_uc010xrc.1_Missense_Mutation_p.R230H NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 230 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 CCCCTGGGAGCGTGCCCGCAG 0.716 NA 13 16 0 0 0 0 ZNF14 7561 broad.mit.edu 37 19 19822424 19822424 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:19822424C>T uc002nnk.1 - 4 1820 c.1666G>A c.(1666-1668)GAG>AAG p.E556K NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) TACGGTTTCTCTCCAGTGTGA 0.408 NA 5 105 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 39019040 39019040 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:39019040C>T uc002oit.2 + 74 11049 c.10919C>T c.(10918-10920)CCC>CTC p.P3640L RYR1_uc002oiu.2_Missense_Mutation_p.P3635L|RYR1_uc002oiv.1_Missense_Mutation_p.P555L|RYR1_uc010xuf.1_Missense_Mutation_p.P560L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3640 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) CGTATGACGCCCCTGTACAAC 0.612 NA 7 60 0 0 0 0 ADCK4 79934 broad.mit.edu 37 19 41209448 41209448 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:41209448G>A uc002oor.2 - 9 1099 c.797C>T c.(796-798)GCG>GTG p.A266V ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A225V NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 266 Protein kinase. integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CGCCTCACCCGCGGGCAGGGC 0.647 NA 11 5 0 0 0 0 ZNF473 25888 broad.mit.edu 37 19 50549349 50549350 + Missense_Mutation DNP TC TC AG TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr19:50549349_50549350TC>AG uc002prn.2 + 5 1886_1887 c.1649_1650TC>AG c.(1648-1650)ATC>AAG p.I550K ZNF473_uc002prm.2_Missense_Mutation_p.I550K|ZNF473_uc010ybo.1_Missense_Mutation_p.I538K NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 550 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGTGGGAAGATCTTGGATCAGA 0.455 NA 5 32 0 0 0 0 NCOA1 8648 broad.mit.edu 37 2 24905921 24905921 + Missense_Mutation SNP G G C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:24905921G>C uc002rfk.2 + 6 714 c.456G>C c.(454-456)ATG>ATC p.M152I NCOA1_uc010eye.2_Missense_Mutation_p.M152I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1I|NCOA1_uc002rfj.2_Missense_Mutation_p.M152I|NCOA1_uc002rfl.2_Missense_Mutation_p.M152I NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 152 PAS. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAATTAATGAATACGAGCG 0.378 NA T PAX3 alveolar rhadomyosarcoma 3 42 0 0 0 0 PSME4 23198 broad.mit.edu 37 2 54133994 54133994 + Silent SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:54133994T>C uc002rxp.2 - 25 2852 c.2796A>G c.(2794-2796)AAA>AAG p.K932K PSME4_uc010yop.1_Silent_p.K818K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.K307K|PSME4_uc010fbv.1_Silent_p.K76K NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 932 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TATGTTGTTTTTTCCCATGGA 0.328 NA 3 64 0 0 0 0 TMSB10 9168 broad.mit.edu 37 2 85133166 85133166 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:85133166G>A uc002sow.1 + 2 120 c.25G>A c.(25-27)GAA>AAA p.E9K NM_021103 NP_066926 P63313 TYB10_HUMAN thymosin, beta 10 9 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding 0 AGACATGGGGGAAATCGCCAG 0.582 NA 23 31 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141093261 141093261 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:141093261C>T uc002tvj.1 - 78 13011 c.12039G>A c.(12037-12039)CTG>CTA p.L4013L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4013 Extracellular (Potential).|LDL-receptor class B 34. 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) TGGGGCCATTCAGCTGCCCTA 0.433 NA TSP Lung(27;0.18) 7 156 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168101029 168101029 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:168101029T>C uc002udx.2 + 8 3145 c.3127T>C c.(3127-3129)TCT>CCT p.S1043P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S868P|XIRP2_uc010fpq.2_Missense_Mutation_p.S821P|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 868 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAGAGGAATATCTGCTCAAGA 0.353 NA 9 19 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168102825 168102825 + Silent SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:168102825A>G uc002udx.2 + 8 4941 c.4923A>G c.(4921-4923)TTA>TTG p.L1641L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1466L|XIRP2_uc010fpq.2_Silent_p.L1419L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1466 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTCAATTATTAAACAGATCAA 0.328 NA 8 30 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170062018 170062018 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:170062018C>A uc002ues.2 - 41 7899 c.7686G>T c.(7684-7686)GAG>GAT p.E2562D NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2562 LDL-receptor class B 27.|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) AGAGAAGGTCCTCTTCATAGT 0.483 NA 11 100 0.00136819 0.0067364 1 0 TTN 7273 broad.mit.edu 37 2 179435389 179435389 + Missense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:179435389C>G uc010zfg.1 - 275 67990 c.67766G>C c.(67765-67767)CGA>CCA p.R22589P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16284P|TTN_uc010zfi.1_Missense_Mutation_p.R16217P|TTN_uc010zfj.1_Missense_Mutation_p.R16092P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23516 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) TATTTCTAATCGAGCTGTGTT 0.413 NA 10 99 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179640223 179640223 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:179640223C>T uc010zfg.1 - 28 6592 c.6368G>A c.(6367-6369)CGG>CAG p.R2123Q TTN_uc010zfh.1_Missense_Mutation_p.R2077Q|TTN_uc010zfi.1_Missense_Mutation_p.R2077Q|TTN_uc010zfj.1_Missense_Mutation_p.R2077Q|TTN_uc002unb.2_Missense_Mutation_p.R2123Q|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2123 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) CCAGTAGATCCGGTCAGACCG 0.483 NA 16 38 0 0 0 0 TTLL4 9654 broad.mit.edu 37 2 219603790 219603790 + Missense_Mutation SNP A A G rs148659460 byFrequency TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:219603790A>G uc002viy.2 + 3 1761 c.1391A>G c.(1390-1392)AAC>AGC p.N464S TTLL4_uc010zkl.1_Missense_Mutation_p.N299S|TTLL4_uc010fvx.2_Missense_Mutation_p.N464S NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 464 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GGCATAGCCAACGTGGCCACC 0.532 NA 12 12 0 0 0 0 CCDC108 255101 broad.mit.edu 37 2 219888039 219888039 + Missense_Mutation SNP G G A rs138095762 TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:219888039G>A uc002vjl.1 - 16 2794 c.2710C>T c.(2710-2712)CGC>TGC p.R904C NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 904 MSP. integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGGGTTGCGGAAGGTGAAG 0.637 NA 9 23 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9546783 9546783 + Silent SNP C C T rs140739060 byFrequency TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr20:9546783C>T uc002wnl.2 - 6 1784 c.1239G>A c.(1237-1239)CCG>CCA p.P413P PAK7_uc002wnk.2_Silent_p.P413P|PAK7_uc002wnj.2_Silent_p.P413P|PAK7_uc010gby.1_Silent_p.P413P NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 413 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.P413L(1) lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CCCAGCTGGGCGGCGGGTAGG 0.657 NA 20 48 0 0 0 0 MACROD2 140733 broad.mit.edu 37 20 15843468 15843468 + Missense_Mutation SNP G G A rs143525826 by1000genomes TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr20:15843468G>A uc002wou.2 + 9 988 c.724G>A c.(724-726)GTA>ATA p.V242I MACROD2_uc002wot.2_Missense_Mutation_p.V242I|MACROD2_uc002woz.2_Missense_Mutation_p.V7I|MACROD2_uc002wpb.2_Missense_Mutation_p.V7I NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 242 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GTTTTTCTCCGTAGGTGAGTA 0.363 NA 8 33 0 0 0 0 PRPF6 24148 broad.mit.edu 37 20 62657405 62657405 + Silent SNP C C T rs151209735 TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr20:62657405C>T uc002yho.2 + 15 2190 c.2022C>T c.(2020-2022)ACC>ACT p.T674T PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 674 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GTGCCCCCACCGCCCGGGTAC 0.682 NA 8 51 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10952943 10952943 + Missense_Mutation SNP A A C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr21:10952943A>C uc002yip.1 - 9 622 c.254T>G c.(253-255)GTG>GGG p.V85G TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V67G|TPTE_uc002yir.1_Missense_Mutation_p.V47G|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 85 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATTGAATGCACAATTTTCTT 0.249 NA 10 39 0 0 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Nonsense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr22:22127164C>A uc002zvn.2 - 7 1204 c.964G>T c.(964-966)GAG>TAG p.E322* MAPK1_uc002zvo.2_Nonsense_Mutation_p.E322*|MAPK1_uc010gtk.1_Nonsense_Mutation_p.E278* NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478 NA 33 55 1.22e-17 6.93e-17 1 0 CNTN6 27255 broad.mit.edu 37 3 1415634 1415634 + Missense_Mutation SNP T T C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:1415634T>C uc003boz.2 + 16 2239 c.1972T>C c.(1972-1974)TAC>CAC p.Y658H CNTN6_uc011asj.1_Missense_Mutation_p.Y586H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y658H NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 658 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGGTAAGACATACAATGCAAC 0.383 NA 3 26 0 0 0 0 CCRL2 9034 broad.mit.edu 37 3 46449784 46449784 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:46449784G>A uc003cpp.3 + 2 499 c.214G>A c.(214-216)GTG>ATG p.V72M CCRL2_uc010hjg.2_Missense_Mutation_p.V84M|CCRL2_uc010hjf.2_Missense_Mutation_p.V72M NM_003965 NP_003956 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 isoform 1 72 Cytoplasmic (Potential). chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) ACTCAAACGCGTGGAAAATAT 0.468 NA 23 31 0 0 0 0 RBM6 10180 broad.mit.edu 37 3 50103889 50103889 + Missense_Mutation SNP A A T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:50103889A>T uc003cyc.2 + 17 3030 c.2897A>T c.(2896-2898)AAT>ATT p.N966I RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.N444I|RBM6_uc003cye.2_Missense_Mutation_p.N444I|RBM6_uc011bdi.1_Missense_Mutation_p.N308I|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 966 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CAGTTTCCCAATAAAGAAGTT 0.438 NA 50 65 0 0 0 0 PARP14 54625 broad.mit.edu 37 3 122418794 122418794 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:122418794C>A uc003efq.3 + 6 1452 c.1393C>A c.(1393-1395)CAA>AAA p.Q465K PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q182K|PARP14_uc003efs.1_Missense_Mutation_p.Q182K NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) AAGGGAAGAGCAAAGTTTGAA 0.403 NA 30 27 2.13e-12 1.18e-11 1 0 KALRN 8997 broad.mit.edu 37 3 124431825 124431825 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:124431825C>A uc003ehg.2 + 58 8246 c.8119C>A c.(8119-8121)CGC>AGC p.R2707S KALRN_uc003ehk.2_Missense_Mutation_p.R1010S NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2706 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CAAAGCTACCCGCAAAGATGT 0.413 NA 17 55 2.23e-06 1.18e-05 1 0 PLXNA1 5361 broad.mit.edu 37 3 126747877 126747877 + Nonsense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:126747877G>T uc003ejg.2 + 25 4646 c.4642G>T c.(4642-4644)GAG>TAG p.E1548* PLXNA1_uc003ejh.2_Nonsense_Mutation_p.E216* NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1571 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CCTGCAGGACGAGGACGTCAC 0.657 NA 16 40 3.57e-18 2.03e-17 1 0 IFT122 55764 broad.mit.edu 37 3 129182445 129182445 + Nonsense_Mutation SNP C C G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:129182445C>G uc003emm.2 + 6 598 c.392C>G c.(391-393)TCA>TGA p.S131* IFT122_uc003eml.2_Nonsense_Mutation_p.S182*|IFT122_uc003emn.2_Nonsense_Mutation_p.S131*|IFT122_uc003emo.2_Nonsense_Mutation_p.S79*|IFT122_uc003emp.2_Translation_Start_Site|IFT122_uc010htc.2_Nonsense_Mutation_p.S182*|IFT122_uc011bky.1_Translation_Start_Site|IFT122_uc003emq.2_Nonsense_Mutation_p.S79*|IFT122_uc003emr.2_Translation_Start_Site|IFT122_uc011bla.1_Translation_Start_Site|IFT122_uc011bkx.1_Nonsense_Mutation_p.S79*|IFT122_uc011bkz.1_RNA NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 131 WD 4. camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AAACACAAATCAAGCAGCAAG 0.358 NA 4 61 0 0 0 0 SLC9A9 285195 broad.mit.edu 37 3 142987754 142987754 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:142987754G>A uc003evn.2 - 15 1855 c.1673C>T c.(1672-1674)CCG>CTG p.P558L NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 558 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CCTGGAAATCGGACCACACCA 0.478 NA 7 171 0 0 0 0 SI 6476 broad.mit.edu 37 3 164727148 164727148 + Silent SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:164727148G>A uc003fei.2 - 35 4160 c.4098C>T c.(4096-4098)TTC>TTT p.F1366F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1366 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGGAAGTCCTGAAGAAATCTG 0.378 NA HNSCC(35;0.089) 60 46 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178922325 178922325 + Missense_Mutation SNP A A T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:178922325A>T uc003fjk.2 + 6 1251 c.1094A>T c.(1093-1095)GAA>GTA p.E365V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 365 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E365K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGGAGGAGAACCCTTATGT 0.343 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 40 122 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193171990 193171990 + Missense_Mutation SNP A A C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr3:193171990A>C uc003ftd.2 - 17 2035 c.1927T>G c.(1927-1929)TTT>GTT p.F643V ATP13A4_uc003fte.1_Missense_Mutation_p.F643V|ATP13A4_uc011bsr.1_Missense_Mutation_p.F114V|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 643 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCGCTAACAAAACTAGTGGGT 0.433 NA 8 89 0 0 0 0 CFI 3426 broad.mit.edu 37 4 110687902 110687902 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr4:110687902C>T uc003hzr.3 - 2 344 c.136G>A c.(136-138)GTC>ATC p.V46I CFI_uc011cft.1_Missense_Mutation_p.V46I|CFI_uc003hzs.3_Missense_Mutation_p.V46I NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 46 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TGGCAGAAGACTTTATCGCAG 0.428 NA 4 46 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187155200 187155200 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr4:187155200C>T uc003iyy.2 + 4 387 c.316C>T c.(316-318)CAT>TAT p.H106Y KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.H68Y NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 106 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GCAATGTGGTCATCAAATAAG 0.383 NA 6 30 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262058 45262058 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr5:45262058C>T uc003jok.2 - 8 2663 c.2638G>A c.(2638-2640)GAC>AAC p.D880N NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 880 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTTTCTGCGTCTGGGTCTGTG 0.483 NA 7 161 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161580208 161580208 + Missense_Mutation SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr5:161580208A>G uc003lyz.3 + 9 1596 c.1238A>G c.(1237-1239)GAC>GGC p.D413G GABRG2_uc010jjc.2_Missense_Mutation_p.D461G|GABRG2_uc003lyy.3_Missense_Mutation_p.D421G|GABRG2_uc011dej.1_Missense_Mutation_p.D318G NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 413 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GACGGCAAGGACTGTGCCAGT 0.458 NA 10 61 0 0 0 0 ZNF192 7745 broad.mit.edu 37 6 28121094 28121095 + Missense_Mutation DNP GG GG TT TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:28121094_28121095GG>TT uc003nkn.1 + 6 1220_1221 c.1036_1037GG>TT c.(1036-1038)GGG>TTG p.G346L ZNF192_uc010jqx.1_Missense_Mutation_p.G346L|ZNF192_uc010jqy.1_Missense_Mutation_p.G159L|ZNF192_uc011dkz.1_Missense_Mutation_p.G159L NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 346 viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AATCCACACTGGGGAGAAACCC 0.47 NA 6 213 0 0 0 0 TREML2 79865 broad.mit.edu 37 6 41166104 41166104 + Missense_Mutation SNP T T G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:41166104T>G uc010jxm.1 - 2 298 c.119A>C c.(118-120)CAG>CCG p.Q40P NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 40 Ig-like V-type.|Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) ATAGGAGCACTGCACAGACAG 0.502 NA 8 169 0 0 0 0 GABRR1 2569 broad.mit.edu 37 6 89926972 89926972 + Missense_Mutation SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:89926972T>A uc003pna.2 - 1 525 c.70A>T c.(70-72)AGC>TGC p.S24C GABRR1_uc011dzv.1_Missense_Mutation_p.S18C|GABRR1_uc011dzw.1_RNA NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 24 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TGCATTCTGCTTTCAGTGGCC 0.463 NA 11 34 0 0 0 0 HEY2 23493 broad.mit.edu 37 6 126080846 126080846 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:126080846C>T uc003qad.2 + 5 1103 c.912C>T c.(910-912)AGC>AGT p.S304S HEY2_uc011ebr.1_Silent_p.S258S NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 304 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CAGCCATCAGCCCGCCCTTGT 0.607 NA 56 103 0 0 0 0 HEY2 23493 broad.mit.edu 37 6 126080849 126080849 + Silent SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:126080849G>T uc003qad.2 + 5 1106 c.915G>T c.(913-915)CCG>CCT p.P305P HEY2_uc011ebr.1_Silent_p.P259P NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 305 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CCATCAGCCCGCCCTTGTCAG 0.597 NA 54 103 4.67e-30 2.69e-29 1 0 EYA4 2070 broad.mit.edu 37 6 133783512 133783512 + Silent SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:133783512A>G uc003qec.3 + 8 935 c.477A>G c.(475-477)ACA>ACG p.T159T EYA4_uc011ecq.1_Silent_p.T105T|EYA4_uc011ecr.1_Silent_p.T105T|EYA4_uc003qed.3_Silent_p.T159T|EYA4_uc003qee.3_Silent_p.T136T|EYA4_uc011ecs.1_Silent_p.T159T|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 159 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGCTCAAACAATGTCTGCCT 0.478 NA 27 98 0 0 0 0 STX11 8676 broad.mit.edu 37 6 144508185 144508185 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:144508185C>A uc003qks.3 + 2 613 c.421C>A c.(421-423)CGC>AGC p.R141S NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 141 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) CACCTTCCAGCGCGCCATGCA 0.657 NA Familial_Hemophagocytic_Lymphohistiocytosis 13 28 0.00136819 0.0067364 1 0 STARD3NL 83930 broad.mit.edu 37 7 38247206 38247206 + Missense_Mutation SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:38247206T>A uc003tfr.2 + 2 249 c.101T>A c.(100-102)ATG>AAG p.M34K STARD3NL_uc003tfs.2_Missense_Mutation_p.M34K|STARD3NL_uc003tft.2_Missense_Mutation_p.M34K NM_032016 NP_114405 O95772 MENTO_HUMAN MLN64 N-terminal homolog 34 Cytoplasmic (Potential). integral to membrane|late endosome membrane ovary(1) 1 ACACAACTCATGGCCAGGATT 0.483 NA 39 23 0 0 0 0 GLI3 2737 broad.mit.edu 37 7 42065866 42065866 + Missense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:42065866G>T uc011kbh.1 - 8 1265 c.1174C>A c.(1174-1176)CCT>ACT p.P392T GLI3_uc011kbg.1_Missense_Mutation_p.P333T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 392 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CCTGGAATAGGCCTCTGTGTT 0.587 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 10 10 4.69e-08 2.53e-07 1 0 POM121L12 285877 broad.mit.edu 37 7 53104106 53104106 + Missense_Mutation SNP T T G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:53104106T>G uc003tpz.2 + 1 758 c.742T>G c.(742-744)TGT>GGT p.C248G NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 248 0 CCTCAGTTTTTGTGATGATGC 0.632 NA 5 60 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86394698 86394698 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:86394698C>T uc003uid.2 + 2 1336 c.237C>T c.(235-237)ATC>ATT p.I79I GRM3_uc010lef.2_Silent_p.I77I|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 79 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTGATGAAATCAACAAAGATG 0.423 NA 48 120 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87037431 87037431 + Silent SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:87037431C>A uc003uiv.1 - 25 3277 c.3201G>T c.(3199-3201)CTG>CTT p.L1067L ABCB4_uc003uiw.1_Silent_p.L1067L|ABCB4_uc003uix.1_Silent_p.L1020L NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1067 ABC transporter 2.|Cytoplasmic (By similarity). 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) TGCTGCCCACCAGGGCTAGTG 0.562 NA 36 112 4.11e-13 2.29e-12 1 0 ABCB4 5244 broad.mit.edu 37 7 87069068 87069068 + Missense_Mutation SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:87069068C>A uc003uiv.1 - 14 1722 c.1646G>T c.(1645-1647)CGC>CTC p.R549L ABCB4_uc003uiw.1_Missense_Mutation_p.R549L|ABCB4_uc003uix.1_Missense_Mutation_p.R549L NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 549 ABC transporter 1.|Cytoplasmic (By similarity). 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) CTTGGGGTTGCGAACCAGGGC 0.532 NA 8 131 0.000274275 0.00137672 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508169 106508169 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:106508169G>A uc003vdv.3 + 2 248 c.163G>A c.(163-165)GAA>AAA p.E55K PIK3CG_uc003vdu.2_Missense_Mutation_p.E55K|PIK3CG_uc003vdw.2_Missense_Mutation_p.E55K NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 55 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CAAGAGCCCCGAAACGGCGCT 0.667 NA 32 44 0 0 0 0 OR9A2 135924 broad.mit.edu 37 7 142724094 142724094 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:142724094C>T uc003wcc.1 - 1 126 c.126G>A c.(124-126)ACG>ACA p.T42T NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) CAATGATGACCGTGTTTCCCA 0.443 NA 13 130 0 0 0 0 GBX1 2636 broad.mit.edu 37 7 150846025 150846025 + Missense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr7:150846025G>T uc011kvg.1 - 2 975 c.743C>A c.(742-744)GCA>GAA p.A248E NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 248 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCACCGGTGCCCCCTCCTC 0.597 NA 15 161 1.52e-12 8.45e-12 1 0 ADAM2 2515 broad.mit.edu 37 8 39624380 39624380 + Silent SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:39624380G>A uc003xnj.2 - 14 1569 c.1494C>T c.(1492-1494)GAC>GAT p.D498D ADAM2_uc003xnk.2_Silent_p.D479D|ADAM2_uc011lck.1_Silent_p.D498D|ADAM2_uc003xnl.2_Silent_p.D372D NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 498 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGCCAAATGTGTCTGTACATT 0.363 NA 10 71 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55534743 55534743 + Nonsense_Mutation SNP A A T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:55534743A>T uc003xsd.1 + 3 830 c.682A>T c.(682-684)AAA>TAA p.K228* RP1_uc011ldy.1_Nonsense_Mutation_p.K228* NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 228 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGAGCCATTTAAACCAGGAAA 0.493 NA 12 21 0 0 0 0 PEX2 5828 broad.mit.edu 37 8 77896342 77896342 + Missense_Mutation SNP G G T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:77896342G>T uc003yax.2 - 4 531 c.73C>A c.(73-75)CTA>ATA p.L25I PEX2_uc003yay.2_Missense_Mutation_p.L25I|PEX2_uc003yaz.2_Missense_Mutation_p.L25I NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 25 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 GCCTTGTTTAGTTCAAGTGCA 0.458 NA 6 87 3.6e-05 0.000186054 1 0 LRRCC1 85444 broad.mit.edu 37 8 86027454 86027454 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:86027454G>A uc003ycw.2 + 5 818 c.664G>A c.(664-666)GGT>AGT p.G222S LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Missense_Mutation_p.G129S|LRRCC1_uc003ycy.2_Missense_Mutation_p.G202S NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 222 cell division|mitosis centriole|nucleus 0 GTGCCTAGAAGGTCTTTTGGA 0.328 NA 27 42 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885295 88885295 + Missense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:88885295G>A uc003ydz.2 - 1 1002 c.905C>T c.(904-906)ACT>ATT p.T302I NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 302 WD 1. ovary(1) 1 TACACATTTAGTGGCCCTCAA 0.512 NA 21 29 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139190886 139190886 + Silent SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:139190886C>A uc003yuy.2 - 10 1092 c.921G>T c.(919-921)CTG>CTT p.L307L FAM135B_uc003yux.2_Silent_p.L208L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 307 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAGCCAGGCCAGATCCTTGC 0.512 NA HNSCC(54;0.14) 16 31 7.08e-05 0.000363436 1 0 KIFC2 90990 broad.mit.edu 37 8 145694974 145694974 + Missense_Mutation SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr8:145694974C>T uc003zcz.2 + 12 1389 c.1324C>T c.(1324-1326)CGC>TGC p.R442C KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 442 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTACCGGGGGCGCCATCGTCG 0.612 NA 9 38 0 0 0 0 PDCL 5082 broad.mit.edu 37 9 125585307 125585307 + Silent SNP C C T TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr9:125585307C>T uc004bmz.1 - 3 438 c.342G>A c.(340-342)AAG>AAA p.K114K PDCL_uc004bna.2_Silent_p.K114K NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 114 signal transduction|visual perception 0 TCCCACTGATCTTCTCCTGGA 0.493 NA 5 147 0 0 0 0 GOLGA2 2801 broad.mit.edu 37 9 131022971 131022971 + Nonsense_Mutation SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr9:131022971G>A uc011maw.1 - 17 1463 c.1450C>T c.(1450-1452)CAA>TAA p.Q484* GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'UTR|uc004bun.2_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 484 Potential. Golgi cisterna membrane protein binding ovary(1) 1 ACCTGGGCTTGAAGCTGTCCT 0.682 NA 23 54 0 0 0 0 SET 6418 broad.mit.edu 37 9 131456200 131456200 + Missense_Mutation SNP G G C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr9:131456200G>C uc004bvt.3 + 7 969 c.728G>C c.(727-729)GGA>GCA p.G243A SET_uc004bvu.3_Missense_Mutation_p.G230A|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.G219A NM_001122821 NP_001116293 Q01105 SET_HUMAN SET translocation (myeloid leukemia-associated) 243 Asp/Glu-rich (highly acidic). DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) GATgaagaaggagaaggagaa 0.149 NA T NUP214 AML 6 39 0 0 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr9:136081795A>G uc004ccz.2 - 5 439 c.397T>C c.(397-399)TCT>CCT p.S133P OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65P NM_014581 NP_055396 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B precursor 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612 NA 3 46 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136573442 136573442 + Silent SNP G G A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr9:136573442G>A uc004cep.3 - 11 1571 c.1437C>T c.(1435-1437)GCC>GCT p.A479A SARDH_uc004ceo.2_Silent_p.A479A|SARDH_uc011mdn.1_Silent_p.A479A|SARDH_uc011mdo.1_Silent_p.A311A NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 479 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGTTGCGCCCGGCCAGCGGCT 0.657 NA 7 73 0 0 0 0 DLG3 1741 broad.mit.edu 37 X 69673592 69673592 + Silent SNP A A G TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chrX:69673592A>G uc004dyi.1 + 8 1579 c.1251A>G c.(1249-1251)GGA>GGG p.G417G DLG3_uc004dyj.1_Silent_p.G80G|DLG3_uc011mpn.1_5'Flank NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 417 PDZ 3. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) TCCTGGCAGGAGGCCCAGCTG 0.567 NA 2 6 0 0 0 0 BTK 695 broad.mit.edu 37 X 100617676 100617676 + Silent SNP T T A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chrX:100617676T>A uc004ehg.2 - 6 586 c.393A>T c.(391-393)GTA>GTT p.V131V BTK_uc010nnn.2_Silent_p.V131V|BTK_uc010nno.2_Silent_p.V165V|BTK_uc004ehi.2_Silent_p.V131V NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 131 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TGTACCGGATTACTGTAGCAG 0.458 NA Agammaglobulinemia_X-linked 6 95 0 0 0 0 BTK 695 broad.mit.edu 37 X 100617678 100617678 + Splice_Site SNP C C A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chrX:100617678C>A uc004ehg.2 - 6 585 c.392_splice c.e6-1 p.V131_splice BTK_uc010nnn.2_Splice_Site_p.V131_splice|BTK_uc010nno.2_Splice_Site_p.V165_splice|BTK_uc004ehi.2_Splice_Site_p.V131_splice NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TACCGGATTACTGTAGCAGGA 0.463 NA Agammaglobulinemia_X-linked 6 92 0.00116845 0.0057898 1 0 AGTR2 186 broad.mit.edu 37 X 115304382 115304382 + Missense_Mutation SNP G G C TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chrX:115304382G>C uc004eqh.3 + 3 1056 c.849G>C c.(847-849)TGG>TGC p.W283C NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 283 Extracellular (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 CTCTGGCCTGGATGGGTGTCA 0.507 NA 11 84 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49431982 49431983 + Frame_Shift_Ins INS - - A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr12:49431982_49431983insA uc001rta.3 - 34 9156_9157 c.9156_9157insT c.(9154-9159)TATACTfs p.Y3052fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3052_3053 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCAGGATCAGTATATGCCAGCA 0.52 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 18 38 --- --- --- --- NA NA NA NA RGPD3 653489 broad.mit.edu 37 2 107040930 107040931 + Frame_Shift_Ins INS - - A TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr2:107040930_107040931insA uc010ywi.1 - 20 3549_3550 c.3492_3493insT c.(3490-3495)TTTGAGfs p.F1164fs NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1164_1165 RanBD1 1. intracellular transport binding ovary(1) 1 TGGCATTCCTCAAATTTCTGCT 0.436 NA 74 75 --- --- --- --- NA NA NA NA CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chr6:42897358_42897360delTGC uc003ota.3 + 1 499_501 c.50_52delTGC c.(49-54)TTGCTG>TTG p.17_18LL>L CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 17_18 innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.606 NA 2 4 --- --- --- --- NA NA NA NA TCEAL3 85012 broad.mit.edu 37 X 102864401 102864403 + In_Frame_Del DEL GAG GAG - TCGA-CV-7261-01A-11D-2012-08 TCGA-CV-7261-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c b34ad9ae-e439-49c1-9512-daedfc15ed13 g.chrX:102864401_102864403delGAG uc004ekq.2 + 3 671_673 c.409_411delGAG c.(409-411)GAGdel p.E138del TCEAL3_uc004ekr.2_In_Frame_Del_p.E138del NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TCTGAGCAGTGAGGAGATGATGA 0.478 NA 62 57 --- --- --- --- NA NA NA NA