Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CASZ1 54897 broad.mit.edu 37 1 10702967 10702967 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:10702967T>A uc001aro.2 - 20 4431 c.4111A>T c.(4111-4113)ATG>TTG p.M1371L NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1371 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTCCGGTCCATGGTGGATGAC 0.662 NA 11 17 0 0 0.080935 0 0 C1orf175 374977 broad.mit.edu 37 1 55161113 55161113 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:55161113G>C uc010ooe.1 + 17 3238 c.2914G>C c.(2914-2916)GAG>CAG p.E972Q C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.E490Q|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.E972Q|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.E174Q|C1orf175_uc001cxu.2_Missense_Mutation_p.E118Q NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 972 HEAT 1. integral to membrane binding 0 CCCGCTCCTGGAGCGAGGCGA 0.667 NA 9 19 0 0 0.069234 0 0 MYSM1 114803 broad.mit.edu 37 1 59165712 59165712 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:59165712C>G uc009wab.1 - 1 36 c.13G>C c.(13-15)GAG>CAG p.E5Q MYSM1_uc001czd.2_Missense_Mutation_p.E5Q NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 5 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) ACATCCGCCTCTTCAGCCGCC 0.692 NA 5 45 0 0 0.217242 0 0 ROR1 4919 broad.mit.edu 37 1 64516358 64516358 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:64516358G>T uc001dbj.2 + 4 851 c.452G>T c.(451-453)GGC>GTC p.G151V ROR1_uc001dbi.3_Missense_Mutation_p.G151V NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 151 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 ATTTCTTCAGGCCCCCCTCCC 0.398 NA 56 135 3.09758e-43 4.25117e-43 0.139131 1 0 IFI44L 10964 broad.mit.edu 37 1 79094635 79094636 + Splice_Site DNP GG GG TT TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:79094635_79094636GG>TT uc010oro.1 + 3 658 c.479_splice c.e3-1 p.G160_splice IFI44L_uc010orp.1_Splice_Site|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like cytoplasm 0 ATTTCCTATAGGAATTAAGGAT 0.307 NA 12 29 0 0 0.115264 0 0 MCOLN3 55283 broad.mit.edu 37 1 85510827 85510827 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:85510827C>T uc001dkp.2 - 2 310 c.217G>A c.(217-219)GTG>ATG p.V73M MCOLN3_uc001dkq.2_Missense_Mutation_p.V73M|MCOLN3_uc001dkr.2_Missense_Mutation_p.V73M|MCOLN3_uc001dks.3_Translation_Start_Site NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 73 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) TGGATAGTCACCATTGCAATT 0.343 NA 13 19 0 0 0.146539 0 0 IGSF3 3321 broad.mit.edu 37 1 117150638 117150638 + Missense_Mutation SNP T T G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:117150638T>G uc001egr.1 - 5 1853 c.1148A>C c.(1147-1149)AAA>ACA p.K383T IGSF3_uc001egq.1_Missense_Mutation_p.K383T|IGSF3_uc001egs.1_Missense_Mutation_p.K56T NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 383 Ig-like C2-type 3.|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) GGTCACGGTTTTCTCTCGCTC 0.517 NA 52 86 0 0 0.139131 0 0 ITGA10 8515 broad.mit.edu 37 1 145532169 145532169 + Silent SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:145532169G>T uc001eoa.2 + 8 889 c.813G>T c.(811-813)CTG>CTT p.L271L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L140L|ITGA10_uc009wiw.2_Silent_p.L128L|ITGA10_uc010oyw.1_Silent_p.L216L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 271 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCAGGCTACTGGTGGTTGTCA 0.542 NA 11 143 1.49906e-05 1.64814e-05 0.11911 1 0 FDPS 2224 broad.mit.edu 37 1 155290326 155290326 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:155290326G>A uc001fkc.2 + 11 1405 c.1186G>A c.(1186-1188)GAA>AAA p.E396K RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E330K|FDPS_uc001fke.2_Missense_Mutation_p.E396K|FDPS_uc001fkf.2_Missense_Mutation_p.E330K|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 396 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) GGCTCTCATTGAACAGTACGC 0.547 NA 5 96 0 0 0.184627 0 0 FCRL1 115350 broad.mit.edu 37 1 157772326 157772326 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:157772326C>A uc001frg.2 - 4 561 c.448G>T c.(448-450)GGG>TGG p.G150W FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.G150W|FCRL1_uc001fri.2_Missense_Mutation_p.G150W|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 150 Ig-like C2-type 2.|Extracellular (Potential). 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) CCTACAGCCCCTTTGTACCAA 0.517 GBM(54;482 1003 11223 30131 35730) NA 63 68 9.42754e-34 1.27625e-33 0.139131 1 0 FAM78B 149297 broad.mit.edu 37 1 166135391 166135391 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:166135391G>T uc001gdr.2 - 2 685 c.95C>A c.(94-96)ACG>AAG p.T32K FAM78B_uc010plc.1_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 32 p.T32T(1) central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CTCGATGCGCGTGGGGCACTG 0.647 NA 5 14 8.12818e-05 8.64978e-05 0.02938 1 0 DUSP27 92235 broad.mit.edu 37 1 167082975 167082975 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:167082975G>A uc001geb.1 + 2 139 c.139G>A c.(139-141)GAA>AAA p.E47K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 47 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TGCAGAAACAGAAAGCATTTT 0.428 NA 18 411 0 0 0.069288 0 0 C1orf9 51430 broad.mit.edu 37 1 172554999 172554999 + Silent SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:172554999A>T uc001giq.3 + 17 1885 c.1569A>T c.(1567-1569)GGA>GGT p.G523G C1orf9_uc010pmm.1_Silent_p.G523G|C1orf9_uc009wwd.2_Silent_p.G479G|C1orf9_uc010pmn.1_Silent_p.G486G|C1orf9_uc010pmo.1_Intron NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 523 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) TTAAAATAGGAAATAAAAGTA 0.264 Colon(43;174 953 11768 38880 47057) NA 103 127 0 0 0.139131 0 0 RNASEL 6041 broad.mit.edu 37 1 182553258 182553258 + Silent SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:182553258G>T uc001gpj.1 - 2 1691 c.1524C>A c.(1522-1524)ATC>ATA p.I508I RNASEL_uc009wxz.1_Silent_p.I508I|RNASEL_uc001gpk.2_Silent_p.I508I|RNASEL_uc009wya.1_Intron NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 508 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 CAGCCCACTTGATGCTCTTAT 0.383 NA Hereditary_Prostate_Cancer 28 107 6.00712e-18 7.76245e-18 0.163468 1 0 CFHR1 3078 broad.mit.edu 37 1 196799682 196799682 + Silent SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:196799682T>C uc001gtn.2 + 5 774 c.660T>C c.(658-660)ACT>ACC p.T220T CFHR1_uc001gtm.2_Silent_p.T124T NM_002113 NP_002104 Q03591 FHR1_HUMAN complement factor H-related 1 precursor 220 Sushi 4. complement activation extracellular space 0 GGGACATTACTTCATTCCCGT 0.398 NA 64 79 0 0 0.139131 0 0 CHI3L1 1116 broad.mit.edu 37 1 203154346 203154346 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:203154346T>A uc001gzi.2 - 3 394 c.223A>T c.(223-225)ACG>TCG p.T75S FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzj.2_Missense_Mutation_p.T75S NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 75 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CCGTAGAGCGTCACATCATTC 0.577 NA 12 132 0 0 0.132662 0 0 OPTC 26254 broad.mit.edu 37 1 203472695 203472695 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:203472695C>A uc001gzu.1 + 7 962 c.846C>A c.(844-846)ACC>ACA p.T282T NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 282 LRR 5. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) TGATAGAGACCATGCAGAGAG 0.557 NA 42 66 1.6237e-14 2.01947e-14 0.131918 1 0 ANGEL2 90806 broad.mit.edu 37 1 213186478 213186478 + Silent SNP G G A rs138048743 TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:213186478G>A uc001hjz.2 - 2 497 c.342C>T c.(340-342)AAC>AAT p.N114N ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Silent_p.N92N NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 114 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTCCCTCAGCGTTCATGACGT 0.403 NA 31 101 0 0 0.214465 0 0 PROX1 5629 broad.mit.edu 37 1 214170908 214170908 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:214170908G>C uc001hkh.2 + 2 1302 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q PROX1_uc001hkg.1_Missense_Mutation_p.E344Q NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 344 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTTACAACCGGAAGGCAAACA 0.512 NA 20 63 0 0 0.234183 0 0 CHRM3 1131 broad.mit.edu 37 1 240070927 240070927 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:240070927C>A uc001hyp.2 + 5 955 c.176C>A c.(175-177)CCT>CAT p.P59H NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 59 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCGATGACCCTCTGGGAGGT 0.552 NA 40 26 1.76056e-25 2.3202e-25 0.124865 1 0 OR2T6 254879 broad.mit.edu 37 1 248551197 248551197 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:248551197C>A uc001iei.1 + 1 288 c.288C>A c.(286-288)GCC>GCA p.A96A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTCATCGCCTGCACTGCTC 0.532 NA 60 34 1.17004e-41 1.59479e-41 0.139131 1 0 CAMK1D 57118 broad.mit.edu 37 10 12833187 12833187 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:12833187G>A uc001ilo.2 + 6 831 c.596G>A c.(595-597)AGC>AAC p.S199N CAMK1D_uc001iln.2_Missense_Mutation_p.S199N NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 199 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) AAACCTTACAGCAAAGCCGTT 0.473 NA 27 71 0 0 0.125774 0 0 TRDMT1 1787 broad.mit.edu 37 10 17204237 17204237 + Splice_Site SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:17204237C>G uc001iop.2 - 4 300 c.252_splice c.e4-1 p.R84_splice TRDMT1_uc001ioq.2_Intron|TRDMT1_uc001ior.2_Intron|TRDMT1_uc001ios.2_Splice_Site_p.R13_splice|TRDMT1_uc009xjt.2_Splice_Site_p.K25_splice|TRDMT1_uc010qcc.1_Splice_Site_p.R13_splice|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc009xju.1_Intron NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 CCGGCCAATCCTAAAGGGGTa 0.313 NA 21 50 0 0 0.069288 0 0 IPMK 253430 broad.mit.edu 37 10 59955896 59955896 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:59955896C>T uc001jkb.2 - 6 1515 c.1192G>A c.(1192-1194)GGA>AGA p.G398R NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 398 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 TAAACATATCCCTCATCTATT 0.388 NA 20 86 0 0 0.219247 0 0 MYPN 84665 broad.mit.edu 37 10 69934049 69934049 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:69934049G>A uc001jnm.3 + 12 2385 c.2200G>A c.(2200-2202)GCA>ACA p.A734T MYPN_uc001jnn.3_Missense_Mutation_p.A459T|MYPN_uc001jno.3_Missense_Mutation_p.A734T|MYPN_uc009xpt.2_Missense_Mutation_p.A734T|MYPN_uc010qit.1_Missense_Mutation_p.A440T|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 734 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 GAACACCACCGCAGCAACTGT 0.542 NA 8 169 0 0 0.047766 0 0 DNA2 1763 broad.mit.edu 37 10 70225496 70225496 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:70225496T>A uc001jof.2 - 4 773 c.773A>T c.(772-774)AAT>ATT p.N258I DNA2_uc001jog.1_Missense_Mutation_p.N172I|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 172 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 GGCAAAGCTATTATTTATGGC 0.368 NA 6 12 0 0 0.02938 0 0 PAPSS2 9060 broad.mit.edu 37 10 89475540 89475540 + Missense_Mutation SNP A A C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:89475540A>C uc001kex.2 + 7 1068 c.805A>C c.(805-807)AAA>CAA p.K269Q PAPSS2_uc001kew.2_Missense_Mutation_p.K269Q|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 269 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CACTCCCCTCAAAGGTTTCAT 0.433 NA 21 51 0 0 0.099896 0 0 TACC2 10579 broad.mit.edu 37 10 124013514 124013514 + Missense_Mutation SNP A A C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:124013514A>C uc001lfv.2 + 23 9150 c.8790A>C c.(8788-8790)GAA>GAC p.E2930D TACC2_uc001lfw.2_Missense_Mutation_p.E1076D|TACC2_uc009xzx.2_Missense_Mutation_p.E2808D|TACC2_uc010qtv.1_Missense_Mutation_p.E2857D|TACC2_uc001lfx.2_Missense_Mutation_p.E557D|TACC2_uc001lfy.2_Missense_Mutation_p.E553D|TACC2_uc001lfz.2_Missense_Mutation_p.E1008D|TACC2_uc001lga.2_Missense_Mutation_p.E978D|TACC2_uc009xzy.2_Missense_Mutation_p.E990D|TACC2_uc001lgb.2_Missense_Mutation_p.E888D NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2930 Potential. microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGAATAAAGAAATAGAAGAAC 0.433 NA 13 44 0 0 0.11911 0 0 DMBT1 1755 broad.mit.edu 37 10 124333279 124333279 + Splice_Site SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr10:124333279G>A uc001lgk.1 + 6 389 c.283_splice c.e6+1 p.G95_splice DMBT1_uc001lgl.1_Splice_Site_p.G95_splice|DMBT1_uc001lgm.1_Splice_Site_p.G95_splice|DMBT1_uc009xzz.1_Splice_Site_p.G95_splice|DMBT1_uc010qtx.1_Splice_Site_p.G95_splice|DMBT1_uc009yaa.1_Splice_Site NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTAGCAGAAGGTAACGTCTAC 0.527 Ovarian(182;93 2026 18125 22222 38972) NA 35 104 0 0 0.225048 0 0 MPPED2 744 broad.mit.edu 37 11 30433051 30433051 + Silent SNP T T G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:30433051T>G uc001msr.2 - 6 969 c.849A>C c.(847-849)CCA>CCC p.P283P MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Silent_p.P157P NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 283 nervous system development hydrolase activity|metal ion binding skin(1) 1 CAAATATAATTGGAGGGTTGG 0.453 NA 23 22 0 0 0.0918 0 0 LMO2 4005 broad.mit.edu 37 11 33886309 33886309 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:33886309G>A uc001mve.2 - 2 535 c.96C>T c.(94-96)GGC>GGT p.G32G LMO2_uc001mvc.2_Silent_p.G25G|LMO2_uc001mvd.2_Silent_p.G25G|LMO2_uc010rel.1_Silent_p.G32G|LMO2_uc010rem.1_Silent_p.G101G NM_001142316 NP_001135788 P25791 RBTN2_HUMAN LIM domain only 2 isoform 2 32 LIM zinc-binding 1. multicellular organismal development nucleus protein binding|zinc ion binding lung(1) 1 TCTGCTGGCAGCCGCCGCATG 0.627 NA T TRD@ T-ALL 29 30 0 0 0.225048 0 0 OR8J3 81168 broad.mit.edu 37 11 55904276 55904276 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:55904276T>A uc010riz.1 - 1 919 c.919A>T c.(919-921)AAT>TAT p.N307Y NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TAACATGGATTTTCCATGAAT 0.323 NA 4 42 0 0 0.150653 0 0 OR9G4 283189 broad.mit.edu 37 11 56510879 56510879 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:56510879G>T uc010rjo.1 - 1 409 c.409C>A c.(409-411)CGC>AGC p.R137S NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCTGCATGGCGGTCATATGCC 0.488 NA 28 102 1.36615e-20 1.77688e-20 0.173368 1 0 CYBASC3 220002 broad.mit.edu 37 11 61124140 61124140 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:61124140G>A uc001nrf.3 - 1 222 c.46C>T c.(46-48)CTG>TTG p.L16L CYBASC3_uc010rlh.1_Silent_p.L33L|CYBASC3_uc001nrg.2_Silent_p.L16L|CYBASC3_uc009ynn.2_RNA|CYBASC3_uc001nrh.2_Silent_p.L16L|CYBASC3_uc001nri.2_Intron|CYBASC3_uc009yno.2_Silent_p.L16L NM_001161452 NP_001154924 Q8NBI2 CYAC3_HUMAN cytochrome b, ascorbate dependent 3 isoform 2 16 Cytochrome b561.|Helical; Name=1; (Potential). electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity 0 ATAGAGCCCAGGGACCCCAGC 0.527 NA 6 79 0 0 0.047766 0 0 NXF1 10482 broad.mit.edu 37 11 62571439 62571439 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:62571439C>G uc001nvf.1 - 2 176 c.40G>C c.(40-42)GAA>CAA p.E14Q NXF1_uc001nvg.1_Missense_Mutation_p.E14Q|NXF1_uc009yog.1_Missense_Mutation_p.E57Q|NXF1_uc010rmh.1_Intron NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 14 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TTAACGCGTTCATCATCGTGT 0.448 NA 14 69 0 0 0.175082 0 0 LRRC32 2615 broad.mit.edu 37 11 76372201 76372201 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:76372201C>A uc001oxq.3 - 3 679 c.436G>T c.(436-438)GGG>TGG p.G146W LRRC32_uc001oxr.3_Missense_Mutation_p.G146W|LRRC32_uc010rsf.1_Missense_Mutation_p.G146W NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 146 Extracellular (Potential). integral to plasma membrane 0 GGTGCCTCCCCCAGCAGCCGC 0.677 NA 12 27 6.40141e-05 6.92327e-05 0.080935 1 0 BCL9L 283149 broad.mit.edu 37 11 118772162 118772162 + Missense_Mutation SNP G G A rs148554205 byFrequency TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:118772162G>A uc001pug.2 - 6 3255 c.2290C>T c.(2290-2292)CCC>TCC p.P764S BCL9L_uc009zal.2_Missense_Mutation_p.P759S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 764 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGCCCCATGGGTGGGTCCACC 0.527 NA 4 21 0 0 0.150653 0 0 HMBS 3145 broad.mit.edu 37 11 118960770 118960770 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:118960770G>C uc001puz.1 + 7 572 c.415G>C c.(415-417)GAG>CAG p.E139Q HMBS_uc009zao.1_Missense_Mutation_p.E84Q|HMBS_uc001pvc.1_Missense_Mutation_p.E84Q|HMBS_uc009zap.1_Missense_Mutation_p.E122Q|HMBS_uc001pva.1_Missense_Mutation_p.E139Q|HMBS_uc001pvb.1_Missense_Mutation_p.E121Q|HMBS_uc001pvd.1_Missense_Mutation_p.E122Q|HMBS_uc001pve.1_Missense_Mutation_p.E122Q|HMBS_uc001pvf.1_Missense_Mutation_p.E122Q NM_000190 NP_000181 P08397 HEM3_HUMAN hydroxymethylbilane synthase isoform 1 139 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity 0 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) AACCCTGCCAGAGAAGAGGTA 0.542 NA Porphyria_Acute_Intermittent 12 50 0 0 0.09319 0 0 THY1 7070 broad.mit.edu 37 11 119291006 119291006 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:119291006G>A uc001pwq.2 - 2 162 c.128C>T c.(127-129)ACC>ATC p.T43I uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.T43I|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 43 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) TGAACTGCTGGTATTCTCATG 0.597 NA 23 44 0 0 0.0918 0 0 OR8D2 283160 broad.mit.edu 37 11 124189609 124189609 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr11:124189609C>T uc010sah.1 - 1 485 c.485G>A c.(484-486)CGC>CAC p.R162H NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CACTGACATGCGGGTAGTATG 0.453 NA 28 37 0 0 0.134883 0 0 CACNA1C 775 broad.mit.edu 37 12 2676956 2676956 + Missense_Mutation SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:2676956A>T uc009zdu.1 + 13 2204 c.1891A>T c.(1891-1893)ACG>TCG p.T631S CACNA1C_uc009zdv.1_Missense_Mutation_p.T628S|CACNA1C_uc001qkb.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkc.2_Missense_Mutation_p.T631S|CACNA1C_uc001qke.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkf.2_Missense_Mutation_p.T631S|CACNA1C_uc001qjz.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkd.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkg.2_Missense_Mutation_p.T631S|CACNA1C_uc009zdw.1_Missense_Mutation_p.T631S|CACNA1C_uc001qkh.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkl.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkn.2_Missense_Mutation_p.T631S|CACNA1C_uc001qko.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkp.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkr.2_Missense_Mutation_p.T631S|CACNA1C_uc001qku.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkq.2_Missense_Mutation_p.T631S|CACNA1C_uc001qks.2_Missense_Mutation_p.T631S|CACNA1C_uc001qkt.2_Missense_Mutation_p.T631S|CACNA1C_uc001qka.1_Missense_Mutation_p.T166S|CACNA1C_uc001qki.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkj.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkk.1_Missense_Mutation_p.T367S|CACNA1C_uc001qkm.1_Missense_Mutation_p.T367S NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 631 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTTCAAGATCACGAGGTACTG 0.602 NA 8 11 0 0 0.038147 0 0 GPR162 27239 broad.mit.edu 37 12 6933408 6933408 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:6933408G>A uc001qqw.1 + 2 879 c.344G>A c.(343-345)CGC>CAC p.R115H GPR162_uc010sfn.1_Missense_Mutation_p.R115H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 115 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCCTACCATCGCATGTGGATG 0.592 NA 7 75 0 0 0.02938 0 0 USP5 8078 broad.mit.edu 37 12 6965958 6965958 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:6965958C>T uc001qri.3 + 6 731 c.672C>T c.(670-672)TTC>TTT p.F224F USP5_uc001qrh.3_Silent_p.F224F NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 224 Substrate binding.|UBP-type. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 GACGCTACTTCGATGGCAGTG 0.577 NA 6 109 0 0 0.02938 0 0 CLEC2D 29121 broad.mit.edu 37 12 9845494 9845494 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:9845494G>T uc001qwg.1 + 4 450 c.428G>T c.(427-429)TGG>TTG p.W143L CLEC2D_uc001qwf.1_Missense_Mutation_p.W143L|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_Intron|CLEC2D_uc009zgu.1_Intron NM_013269 NP_037401 Q9UHP7 CLC2D_HUMAN osteoclast inhibitory lectin isoform 1 143 Extracellular (Potential).|C-type lectin. cell surface receptor linked signaling pathway cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction sugar binding|transmembrane receptor activity 0 GGCCAACCATGGAAATGGATA 0.358 NA 14 32 5.3912e-06 6.02725e-06 0.175082 1 0 RAPGEF3 10411 broad.mit.edu 37 12 48142639 48142639 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:48142639C>T uc009zkp.2 - 10 1431 c.991G>A c.(991-993)GCC>ACC p.A331T RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.A331T|RAPGEF3_uc001rpz.3_Missense_Mutation_p.A373T|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.A385T NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 331 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GAAGGGCCGGCGCCCTGAGAG 0.597 NA 8 82 0 0 0.058154 0 0 DNAJC22 79962 broad.mit.edu 37 12 49745252 49745252 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:49745252T>A uc001rua.2 + 3 1394 c.993T>A c.(991-993)AGT>AGA p.S331R DNAJC22_uc001rub.2_Missense_Mutation_p.S331R NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 331 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 AAGTCCTGAGTCAACCCAGGA 0.562 NA 10 15 0 0 0.105934 0 0 HOXC9 3225 broad.mit.edu 37 12 54394137 54394137 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:54394137C>T uc001sep.2 + 2 263 c.165C>T c.(163-165)TTC>TTT p.F55F HOXC9_uc001seq.2_Silent_p.F55F NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 55 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 CCTGTAGCTTCGCGCCCAAGC 0.687 NA 3 40 0 0 0.150653 0 0 BAZ2A 11176 broad.mit.edu 37 12 57000043 57000043 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:57000043C>T uc001slq.1 - 12 2447 c.2253G>A c.(2251-2253)AAG>AAA p.K751K BAZ2A_uc001slp.1_Silent_p.K749K|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.K719K NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 751 Lys-rich.|Potential. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TGGATTTCTTCTTAGCTTCCT 0.398 NA 7 30 0 0 0.069234 0 0 BTBD11 121551 broad.mit.edu 37 12 107713770 107713770 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:107713770G>A uc001tmk.1 + 1 1574 c.1053G>A c.(1051-1053)CTG>CTA p.L351L BTBD11_uc009zut.1_Silent_p.L351L|BTBD11_uc001tmj.2_Silent_p.L351L NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 351 integral to membrane DNA binding skin(2)|ovary(1) 3 TGGAGACCCTGGAGCACACGG 0.443 NA 11 25 0 0 0.069234 0 0 NOS1 4842 broad.mit.edu 37 12 117681123 117681123 + Nonsense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:117681123C>A uc001twm.1 - 19 3627 c.2941G>T c.(2941-2943)GAA>TAA p.E981* NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 981 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCTGGAGCTTCGGCCACAAAG 0.517 Esophageal Squamous(162;1748 2599 51982 52956) NA 25 47 1.17739e-12 1.43743e-12 0.108266 1 0 GOLGA3 2802 broad.mit.edu 37 12 133375030 133375030 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr12:133375030G>T uc001ukz.1 - 9 2393 c.1834C>A c.(1834-1836)CAC>AAC p.H612N GOLGA3_uc001ula.1_Missense_Mutation_p.H612N|GOLGA3_uc001ulb.2_Missense_Mutation_p.H612N NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 612 Gln-rich.|Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AGTTTCAGGTGCTCCAGGAGA 0.517 NA 18 48 6.94344e-10 8.0334e-10 0.175082 1 0 GPR12 2835 broad.mit.edu 37 13 27333689 27333689 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr13:27333689C>A uc010aal.2 - 2 498 c.276G>T c.(274-276)CTG>CTT p.L92L GPR12_uc010tdl.1_Intron NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 92 Helical; Name=2; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CAATGCCGGCCAGCAGGTCTG 0.532 NA 21 32 7.92952e-12 9.44895e-12 0.0918 1 0 MYCBP2 23077 broad.mit.edu 37 13 77847655 77847655 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr13:77847655G>A uc001vkf.2 - 6 874 c.783C>T c.(781-783)ATC>ATT p.I261I MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GGATAGCAGAGATGGCCTGAA 0.428 NA 21 29 0 0 0.234183 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21788336 21788336 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:21788336G>A uc001wag.2 + 11 1467 c.1467G>A c.(1465-1467)GAG>GAA p.E489E RPGRIP1_uc001wah.2_Silent_p.E131E|RPGRIP1_uc001wai.2_Silent_p.E131E|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.2_5'Flank|RPGRIP1_uc010aim.2_5'Flank|RPGRIP1_uc001wal.2_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 489 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CTCAGATCGAGGTAAGAGCCT 0.428 NA 3 30 0 0 0.217242 0 0 STRN3 29966 broad.mit.edu 37 14 31371778 31371778 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:31371778C>T uc001wqu.2 - 16 2317 c.2101G>A c.(2101-2103)GAA>AAA p.E701K STRN3_uc001wqv.2_Missense_Mutation_p.E617K|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 701 WD 4. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TGTCTATCTTCATGAGCAGTT 0.294 NA 5 74 0 0 0.217242 0 0 SAMD4A 23034 broad.mit.edu 37 14 55218249 55218249 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:55218249G>T uc001xbb.2 + 5 1168 c.1167G>T c.(1165-1167)TTG>TTT p.L389F SAMD4A_uc001xbc.2_Missense_Mutation_p.L301F NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 390 SAM. positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 TGAAGTCTTTGGAAAGGGTAA 0.373 NA 7 83 0.00448238 0.0046947 0.047766 1 0 FBXO34 55030 broad.mit.edu 37 14 55818909 55818909 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:55818909A>G uc001xbu.2 + 2 2046 c.1801A>G c.(1801-1803)ACC>GCC p.T601A FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.T601A NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 601 F-box. ovary(2)|lung(2)|skin(1) 5 CCTTAAATGTACCTGCTGCTA 0.448 NA 34 34 0 0 0.193644 0 0 EXOC5 10640 broad.mit.edu 37 14 57676740 57676740 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:57676740C>A uc001xct.2 - 16 1904 c.1653G>T c.(1651-1653)TTG>TTT p.L551F EXOC5_uc001xcs.2_Missense_Mutation_p.L230F|EXOC5_uc010trg.1_Missense_Mutation_p.L496F|EXOC5_uc010trh.1_Missense_Mutation_p.L486F NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 551 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 GTTCTGCAGCCAAAATATGCT 0.289 NA 3 12 0.004672 0.00484233 0.115264 1 0 SLC35F4 341880 broad.mit.edu 37 14 58033208 58033208 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:58033208C>A uc001xdb.1 - 7 1309 c.1309G>T c.(1309-1311)GTT>TTT p.V437F SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.V278F NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TTTCCAGGAACGCTGAGCACT 0.483 NA 5 8 8.12818e-05 8.64978e-05 0.02938 1 0 KCNH5 27133 broad.mit.edu 37 14 63416975 63416975 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:63416975C>A uc001xfx.2 - 7 1296 c.1245G>T c.(1243-1245)AAG>AAT p.K415N KCNH5_uc001xfy.2_Missense_Mutation_p.K415N|KCNH5_uc001xfz.1_Missense_Mutation_p.K357N|KCNH5_uc001xga.2_Missense_Mutation_p.K357N NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 415 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACAATGAATCCTTGCTGGGTC 0.463 NA 23 53 2.44723e-14 3.02484e-14 0.099896 1 0 ZFYVE1 53349 broad.mit.edu 37 14 73490979 73490979 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:73490979G>A uc001xnm.2 - 2 878 c.238C>T c.(238-240)CAT>TAT p.H80Y ZFYVE1_uc010arj.2_Missense_Mutation_p.H80Y NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 80 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCTGGTAAATGCCCACTGAGA 0.537 NA 97 140 0 0 0.139131 0 0 AK7 122481 broad.mit.edu 37 14 96953381 96953381 + Silent SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:96953381T>C uc001yfn.2 + 17 2165 c.2121T>C c.(2119-2121)CCT>CCC p.P707P NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 707 DPY-30. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CCGAAGACCCTGTTGATTTTC 0.284 NA 23 40 0 0 0.083992 0 0 DIO3 1735 broad.mit.edu 37 14 102028667 102028667 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:102028667C>T uc010txq.1 + 2 980 c.756C>T c.(754-756)GAC>GAT p.D252D DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 252 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) GTGGCCCCGACGGCTACCAGG 0.597 NA 3 58 0 0 0.115264 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206830 104206830 + Silent SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:104206830A>T uc001yof.1 - 12 2206 c.1923T>A c.(1921-1923)CCT>CCA p.P641P PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P508P NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 641 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TACTTTCTGAAGGTGGCTGAG 0.622 NA 25 54 0 0 0.099896 0 0 CILP 8483 broad.mit.edu 37 15 65491330 65491330 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr15:65491330A>G uc002aon.2 - 9 1475 c.1294T>C c.(1294-1296)TGC>CGC p.C432R NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 432 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TTAACAGGGCAGCGTCCCACG 0.527 NA 4 35 0 0 0.184627 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921866 78921866 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr15:78921866C>G uc002bed.1 - 5 893 c.781G>C c.(781-783)GGC>CGC p.G261R CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.G79R NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 261 Cytoplasmic (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 ATCTTCTCGCCGCAGTCGGAT 0.567 NA 7 84 0 0 0.047766 0 0 HOMER2 9455 broad.mit.edu 37 15 83523419 83523419 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr15:83523419C>G uc002bjg.2 - 6 847 c.661G>C c.(661-663)GAG>CAG p.E221Q HOMER2_uc002bjh.2_Missense_Mutation_p.E210Q|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 221 Potential. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 CGGTCATTCTCATCACGGCAG 0.622 NA 6 16 0 0 0.02938 0 0 SMG1 23049 broad.mit.edu 37 16 18893522 18893522 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:18893522G>A uc002dfm.2 - 10 1621 c.1258C>T c.(1258-1260)CGG>TGG p.R420W SMG1_uc010bwb.2_Missense_Mutation_p.R280W NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 420 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GGAGGACCCCGAATTGGGCTG 0.438 NA 6 10 0 0 0.217242 0 0 DNAH3 55567 broad.mit.edu 37 16 20952737 20952737 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:20952737G>A uc010vbe.1 - 59 11640 c.11640C>T c.(11638-11640)CTC>CTT p.L3880L DNAH3_uc010vbd.1_Silent_p.L1315L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3880 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TGAATCTGATGAGCTCCTGCC 0.493 NA 155 262 0 0 0.139131 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29883532 29883532 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:29883532G>A uc002duq.3 - 16 2919 c.2679C>T c.(2677-2679)TTC>TTT p.F893F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.F836F|SEZ6L2_uc002dur.3_Silent_p.F823F|SEZ6L2_uc002dus.3_Silent_p.F792F|SEZ6L2_uc010vec.1_Silent_p.F906F|SEZ6L2_uc010ved.1_Silent_p.F862F NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 893 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCGGGTTGCTGAAGTCCGACT 0.587 NA 5 28 0 0 0.02938 0 0 SALL1 6299 broad.mit.edu 37 16 51171263 51171263 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:51171263C>T uc010vgs.1 - 3 3766 c.3735G>A c.(3733-3735)CTG>CTA p.L1245L SALL1_uc010vgr.1_Silent_p.L1148L|SALL1_uc010cbv.2_Silent_p.L97L NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1245 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTTCATCGCCAGCCCGTTGG 0.552 GBM(103;1352 1446 1855 4775 8890) NA 13 34 0 0 0.11911 0 0 CHD9 80205 broad.mit.edu 37 16 53260328 53260328 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:53260328A>G uc002ehb.2 + 4 2111 c.1947A>G c.(1945-1947)ATA>ATG p.I649M CHD9_uc002egy.2_Missense_Mutation_p.I649M|CHD9_uc002egz.1_Missense_Mutation_p.I649M|CHD9_uc002eha.1_Missense_Mutation_p.I649M|CHD9_uc002ehc.2_Missense_Mutation_p.I649M|CHD9_uc002ehd.2_Missense_Mutation_p.I175M NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 649 Lys-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CAGAAGATATAGAAGGGAAGC 0.299 NA 6 12 0 0 0.217242 0 0 ARL2BP 23568 broad.mit.edu 37 16 57284415 57284415 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:57284415G>A uc002elf.1 + 5 628 c.386G>A c.(385-387)AGA>AAA p.R129K ARL2BP_uc010vhl.1_Missense_Mutation_p.R129K NM_012106 NP_036238 Q9Y2Y0 AR2BP_HUMAN binder of Arl Two 129 maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle protein binding|small GTPase regulator activity|transcription coactivator activity 0 TTGGACTACAGAGCAGTAAGT 0.423 NA 12 26 0 0 0.09319 0 0 VAC14 55697 broad.mit.edu 37 16 70818036 70818036 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:70818036G>A uc002ezm.2 - 5 832 c.574C>T c.(574-576)CGG>TGG p.R192W VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_Intron NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 192 HEAT 3. interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) ATGAACTGCCGGGCATACTGG 0.522 NA 4 62 0 0 0.217242 0 0 TRAF4 9618 broad.mit.edu 37 17 27074265 27074265 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr17:27074265C>T uc002hcs.2 + 2 286 c.178C>T c.(178-180)CCT>TCT p.P60S TRAF4_uc002hcq.1_Missense_Mutation_p.P60S NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 60 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) GGACCAGCTTCCTCTGGACTA 0.602 NA 3 67 0 0 0.184627 0 0 KLHL10 317719 broad.mit.edu 37 17 39994186 39994186 + Missense_Mutation SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr17:39994186T>C uc010cxr.2 + 1 144 c.2T>C c.(1-3)ATG>ACG p.M1T NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Missense_Mutation_p.M1T|KLHL10_uc010wfw.1_5'UTR NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 1 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) CAGGGTGCCATGGAGATGGAG 0.592 NA 68 96 0 0 0.139131 0 0 TEX2 55852 broad.mit.edu 37 17 62226339 62226340 + Missense_Mutation DNP TC TC AA TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr17:62226339_62226340TC>AA uc002jec.2 - 12 3546_3547 c.3373_3374GA>TT c.(3373-3375)GAT>TTT p.D1125F TEX2_uc002jed.2_Missense_Mutation_p.D1132F|TEX2_uc002jee.2_Missense_Mutation_p.D1125F NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 1125 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TCATGGCTGATCAGCAGCCTCC 0.515 NA 10 91 0 0 0.115264 0 0 GNAL 2774 broad.mit.edu 37 18 11752513 11752513 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:11752513G>C uc010dkz.2 + 2 327 c.81G>C c.(79-81)AAG>AAC p.K27N GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Missense_Mutation_p.K27N NM_001142339 NP_001135811 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), 27 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 CCAACAAAAAGATCGAGAAGC 0.637 NA 4 61 0 0 0.150653 0 0 C18orf34 374864 broad.mit.edu 37 18 30977173 30977173 + Splice_Site SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:30977173C>A uc002kxn.2 - 3 201 c.59_splice c.e3-1 p.G20_splice C18orf34_uc010xbr.1_Splice_Site_p.G20_splice|C18orf34_uc010dmf.1_Splice_Site_p.G20_splice|C18orf34_uc002kxo.2_Splice_Site_p.G20_splice|C18orf34_uc002kxp.2_Splice_Site_p.G20_splice NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 ovary(1) 1 CATGTTAAACCTATAAAAGGT 0.333 NA 19 37 6.33239e-15 7.92544e-15 0.219247 1 0 FHOD3 80206 broad.mit.edu 37 18 34273362 34273362 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:34273362C>T uc002kzt.1 + 13 1733 c.1636C>T c.(1636-1638)CCA>TCA p.P546S FHOD3_uc002kzr.1_Missense_Mutation_p.P546S|FHOD3_uc002kzs.1_Missense_Mutation_p.P563S|FHOD3_uc010dmz.1_Missense_Mutation_p.P278S|FHOD3_uc010dna.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 546 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TGCCTCCTCCCCAGGAACCCC 0.572 NA 5 25 0 0 0.02938 0 0 RTTN 25914 broad.mit.edu 37 18 67781805 67781805 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:67781805G>A uc002lkp.2 - 27 3627 c.3559C>T c.(3559-3561)CTG>TTG p.L1187L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L275L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1187 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) GACTCTGTCAGAACCAAGAGG 0.373 NA 31 60 0 0 0.214465 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2399124 2399124 + Silent SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:2399124G>T uc010xgx.1 + 3 345 c.345G>T c.(343-345)CGG>CGT p.R115R TMPRSS9_uc002lvv.1_Silent_p.R149R NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 115 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) GAGGGATCCGGGCAAGGCTGC 0.622 NA 10 21 2.74318e-10 3.21113e-10 0.058154 1 0 EMR2 30817 broad.mit.edu 37 19 14875276 14875276 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:14875276C>T uc002mzp.1 - 11 1509 c.1053G>A c.(1051-1053)GGG>GGA p.G351G EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Silent_p.G351G|EMR2_uc002mzo.1_Silent_p.G351G|EMR2_uc002mzq.1_Silent_p.G302G|EMR2_uc002mzr.1_Silent_p.G302G|EMR2_uc002mzs.1_Silent_p.G209G|EMR2_uc002mzt.1_Silent_p.G258G|EMR2_uc002mzu.1_Silent_p.G258G|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 351 Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 AGTTCAACAGCCCATTGGAAA 0.572 NA 4 26 0 0 0.217242 0 0 NCAN 1463 broad.mit.edu 37 19 19337426 19337426 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:19337426C>A uc002nlz.2 + 7 1303 c.1204C>A c.(1204-1206)CCT>ACT p.P402T NCAN_uc010ecc.1_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 402 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGTGGTCACCCCTGACTTCCA 0.597 NA 4 26 0.00909568 0.0093301 0.150653 1 0 NCAN 1463 broad.mit.edu 37 19 19338673 19338673 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:19338673G>A uc002nlz.2 + 8 2343 c.2244G>A c.(2242-2244)ACG>ACA p.T748T NCAN_uc010ecc.1_Silent_p.T312T NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 748 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CTGAGCCAACGGGCCTCAGGG 0.582 NA 8 79 0 0 0.058154 0 0 GMIP 51291 broad.mit.edu 37 19 19744910 19744910 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:19744910G>A uc002nnd.2 - 19 2291 c.2174C>T c.(2173-2175)CCG>CTG p.P725L GMIP_uc010xrb.1_Missense_Mutation_p.P699L|GMIP_uc010xrc.1_Missense_Mutation_p.P696L NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 725 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GGCTGCCCGCGGGCCGTCCGG 0.617 NA 4 55 0 0 0.150653 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698679 29698679 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:29698679C>G uc002nsd.2 - 2 712 c.601G>C c.(601-603)GAT>CAT p.D201H NM_006003 NP_005994 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske 201 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity 0 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) CGATCTAGATCATGCTGTGGG 0.453 NA 27 93 0 0 0.163468 0 0 PRKD2 25865 broad.mit.edu 37 19 47181778 47181778 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:47181778C>A uc002pfh.2 - 17 2555 c.2213G>T c.(2212-2214)GGC>GTC p.G738V PRKD2_uc002pfd.2_Missense_Mutation_p.G112V|PRKD2_uc010eks.2_Missense_Mutation_p.G141V|PRKD2_uc010ekt.2_Missense_Mutation_p.G5V|PRKD2_uc002pfe.2_Missense_Mutation_p.G258V|PRKD2_uc002pff.2_Missense_Mutation_p.G258V|PRKD2_uc002pfg.2_Missense_Mutation_p.G581V|PRKD2_uc002pfi.2_Missense_Mutation_p.G738V|PRKD2_uc002pfj.2_Missense_Mutation_p.G738V|PRKD2_uc010xye.1_Missense_Mutation_p.G738V|PRKD2_uc002pfk.2_Missense_Mutation_p.G581V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 738 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CATGATCACGCCCACTGACCA 0.617 NA 20 47 9.95505e-16 1.26182e-15 0.069288 1 0 GRLF1 2909 broad.mit.edu 37 19 47424426 47424426 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:47424426C>T uc010ekv.2 + 1 2494 c.2494C>T c.(2494-2496)CGG>TGG p.R832W NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 832 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GCACAAGAAGCGGATTGAACT 0.423 NA 3 61 0 0 0.184627 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022413 51022413 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:51022413C>T uc002pss.2 - 3 694 c.557G>A c.(556-558)CGC>CAC p.R186H NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 186 LRR 5.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CAGGTCCAGGCGCCGCAGCGA 0.652 NA 8 28 0 0 0.038147 0 0 KLK13 26085 broad.mit.edu 37 19 51563323 51563323 + Missense_Mutation SNP G G T rs138178458 byFrequency TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:51563323G>T uc002pvn.2 - 3 310 c.267C>A c.(265-267)CAC>CAA p.H89Q KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.H89Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.H89Q NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 89 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GCCCTAGGGCGTGCTTGCCTA 0.478 NA 12 53 8.60227e-14 1.0567e-13 0.146539 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147227 52147227 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:52147227C>T uc002pxf.3 - 5 937 c.817G>A c.(817-819)GCC>ACC p.A273T NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 273 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) ACTGTGCAGGCGAGGAACAGG 0.617 NA 6 9 0 0 0.217242 0 0 ZNF761 388561 broad.mit.edu 37 19 53959918 53959918 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:53959918G>T uc010eqp.2 + 7 2615 c.2157G>T c.(2155-2157)AAG>AAT p.K719N ZNF761_uc010ydy.1_Missense_Mutation_p.K665N|ZNF761_uc002qbt.1_Missense_Mutation_p.K665N NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 719 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.398 NA 36 107 3.33393e-15 4.19907e-15 0.214465 1 0 ZIM2 23619 broad.mit.edu 37 19 57301308 57301308 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr19:57301308G>C uc002qnr.2 - 8 791 c.409C>G c.(409-411)CAG>GAG p.Q137E uc010ygp.1_RNA|uc002qnp.1_RNA|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Missense_Mutation_p.Q137E|ZIM2_uc010etp.2_Missense_Mutation_p.Q137E|ZIM2_uc010ygs.1_Missense_Mutation_p.Q137E NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ACAGAGTCCTGAGCAAGGAAA 0.522 NA 8 16 0 0 0.069234 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655667 40655667 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:40655667C>T uc002rrx.2 - 1 1778 c.1754G>A c.(1753-1755)GGG>GAG p.G585E SLC8A1_uc002rry.2_Missense_Mutation_p.G585E|SLC8A1_uc002rrz.2_Missense_Mutation_p.G585E|SLC8A1_uc002rsa.2_Missense_Mutation_p.G585E|SLC8A1_uc002rsd.3_Missense_Mutation_p.G585E|SLC8A1_uc002rsb.1_Missense_Mutation_p.G585E|SLC8A1_uc010fan.1_Missense_Mutation_p.G585E|SLC8A1_uc002rsc.1_Missense_Mutation_p.G585E NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 585 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAAATCCTCCCCTCCACCTCT 0.363 NA 16 40 0 0 0.146539 0 0 ANTXR1 84168 broad.mit.edu 37 2 69318050 69318050 + Silent SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:69318050A>G uc002sfg.2 + 9 1058 c.702A>G c.(700-702)GGA>GGG p.G234G ANTXR1_uc002sfe.2_Silent_p.G234G|ANTXR1_uc002sff.2_Silent_p.G234G|ANTXR1_uc002sfd.2_Silent_p.G234G NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 234 Extracellular (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 TATGTGCAGGAGGTAAATTGA 0.388 NA Familial_Infantile_Hemangioma 4 48 0 0 0.184627 0 0 EIF5B 9669 broad.mit.edu 37 2 99978277 99978277 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:99978277G>A uc002tab.2 + 4 1097 c.913G>A c.(913-915)GCA>ACA p.A305T NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 305 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TCCCACAGCTGCAGAAGGTTG 0.388 Colon(162;2388 2567 2705 3444) NA 36 51 0 0 0.203993 0 0 C2orf29 55571 broad.mit.edu 37 2 101885540 101885540 + Missense_Mutation SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:101885540A>T uc002taw.3 + 6 1359 c.1277A>T c.(1276-1278)CAC>CTC p.H426L NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 426 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GAATTTATTCACCTTTATATA 0.294 NA 6 27 0 0 0.02938 0 0 RGPD4 285190 broad.mit.edu 37 2 108475942 108475942 + Missense_Mutation SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:108475942A>T uc010ywk.1 + 11 1648 c.1566A>T c.(1564-1566)AAA>AAT p.K522N RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 522 intracellular transport binding skin(2) 2 CTGTATGTAAACAGCTTTGTA 0.393 NA 88 221 0 0 0.139131 0 0 LRP1B 53353 broad.mit.edu 37 2 141625810 141625811 + Missense_Mutation DNP CC CC TA TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:141625810_141625811CC>TA uc002tvj.1 - 26 5163_5164 c.4191_4192GG>TA c.(4189-4194)TGGGAT>TGTAAT p.1397_1398WD>CN LRP1B_uc010fnl.1_Missense_Mutation_p.579_580WD>CN NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1397_1398 Extracellular (Potential).|LDL-receptor class B 11. 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) AAATTTGCATCCCAGTCTGTCC 0.287 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 39 0 0 0.115264 0 0 NR4A2 4929 broad.mit.edu 37 2 157182419 157182419 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:157182419C>T uc002tyz.3 - 8 2056 c.1634G>A c.(1633-1635)GGG>GAG p.G545E NR4A2_uc002tyx.3_Missense_Mutation_p.G482E|NR4A2_uc010zcf.1_Missense_Mutation_p.G545E NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 545 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GCGGTTCAACCCCCCATTGTT 0.478 NA 3 60 0 0 0.150653 0 0 TTN 7273 broad.mit.edu 37 2 179616751 179616751 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:179616751C>A uc002unb.2 - 46 10600 c.10376G>T c.(10375-10377)GGG>GTG p.G3459V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAGATTCCCCCTCAGAGAA 0.323 NA 18 89 3.51602e-12 4.24053e-12 0.204396 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209190010 209190010 + Silent SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:209190010G>T uc002vcz.2 + 20 2633 c.2475G>T c.(2473-2475)CTG>CTT p.L825L PIKFYVE_uc010fun.1_Silent_p.L506L|PIKFYVE_uc002vcy.1_Silent_p.L769L NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 825 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CCAAGACACTGATGTTTTTTG 0.378 NA 5 26 0.00198382 0.00208878 0.02938 1 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr20:29625875T>C uc010ztl.1 + 2 61 c.29T>C c.(28-30)ATC>ACC p.I10T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ATGTACAGAATCGCCCTGAAA 0.353 NA 4 64 0 0 0.217242 0 0 TPX2 22974 broad.mit.edu 37 20 30345327 30345327 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr20:30345327C>T uc002wwp.1 + 3 746 c.48C>T c.(46-48)TTC>TTT p.F16F TPX2_uc010gdv.1_Silent_p.F16F NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 16 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) CCTCGGATTTCATCAATTTTT 0.398 NA 17 57 0 0 0.189662 0 0 GTPBP5 26164 broad.mit.edu 37 20 60768505 60768505 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr20:60768505G>T uc002yce.3 + 2 67 c.29G>T c.(28-30)AGA>ATA p.R10I GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Missense_Mutation_p.R10I|GTPBP5_uc011aag.1_Missense_Mutation_p.R10I NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 10 ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) TTCTCAGCAAGATTGAGGACC 0.542 NA 7 116 1.12685e-05 1.25276e-05 0.047766 1 0 COL9A3 1299 broad.mit.edu 37 20 61460123 61460123 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr20:61460123C>A uc002ydm.2 + 18 911 c.908C>A c.(907-909)CCG>CAG p.P303Q NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 303 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) CAGGGCATGCCGGGCAAGGAC 0.682 NA 9 28 2.17888e-05 2.3824e-05 0.058154 1 0 HSPA13 6782 broad.mit.edu 37 21 15750686 15750686 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr21:15750686C>A uc002yjt.2 - 3 483 c.414G>T c.(412-414)GAG>GAT p.E138D HSPA13_uc011abx.1_Intron NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 138 endoplasmic reticulum|microsome ATP binding kidney(1) 1 CTGTGATGGTCTCATTACTTG 0.333 NA 10 38 1.61879e-10 1.90615e-10 0.09319 1 0 C21orf63 59271 broad.mit.edu 37 21 33887132 33887132 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr21:33887132G>C uc002ypr.1 + 8 1368 c.958G>C c.(958-960)GAG>CAG p.E320Q C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.E317Q|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.E225Q|C21orf63_uc011adq.1_Silent_p.R19R NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 320 Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 AGCCCACCCGGAGAGAGCTGC 0.612 NA 7 88 0 0 0.058154 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 7 24 0 0 0.047766 0 0 DIP2A 23181 broad.mit.edu 37 21 47916917 47916917 + Silent SNP C C T rs139510335 by1000genomes TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr21:47916917C>T uc002zjo.2 + 4 483 c.300C>T c.(298-300)GCC>GCT p.A100A DIP2A_uc011afy.1_Silent_p.A36A|DIP2A_uc011afz.1_Silent_p.A100A|DIP2A_uc002zjl.2_Silent_p.A100A|DIP2A_uc002zjm.2_Silent_p.A100A|DIP2A_uc010gql.2_Silent_p.A100A|DIP2A_uc002zjn.2_Silent_p.A100A NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 100 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ACACTGAAGCCGTGCAAGCAG 0.408 NA 5 22 0 0 0.217242 0 0 CCDC116 164592 broad.mit.edu 37 22 21991356 21991356 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr22:21991356C>A uc002zve.2 + 5 1932 c.1839C>A c.(1837-1839)GTC>GTA p.V613V NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 Error:Variant_position_missing_in_Q8IYX3_after_alignment ovary(1)|skin(1) 2 Colorectal(54;0.105) aggaTGGAGTCTAGAGCCTCC 0.453 NA 3 7 0.004672 0.00484233 0.115264 1 0 MN1 4330 broad.mit.edu 37 22 28193018 28193018 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr22:28193018C>A uc003adj.2 - 1 4469 c.3514G>T c.(3514-3516)GAC>TAC p.D1172Y NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1172 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 AGAGGCTGGTCCTCGGAGATG 0.677 NA T ETV6 AML|meningioma 3 12 0.00909568 0.0093301 0.150653 1 0 NCAPH2 29781 broad.mit.edu 37 22 50956689 50956689 + Missense_Mutation SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr22:50956689A>T uc003blr.3 + 7 750 c.628A>T c.(628-630)ATG>TTG p.M210L NCAPH2_uc003blq.3_Missense_Mutation_p.M210L|NCAPH2_uc003blv.2_Missense_Mutation_p.M210L|NCAPH2_uc010hbb.2_Missense_Mutation_p.M61L|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.M210L|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 210 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CGTTTCCCCCATGCCAGGGAC 0.627 NA 7 33 0 0 0.038147 0 0 CISH 1154 broad.mit.edu 37 3 50645182 50645182 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr3:50645182C>A uc003dax.2 - 3 814 c.633G>T c.(631-633)GTG>GTT p.V211V CISH_uc010hlq.2_Silent_p.V228V NM_145071 NP_659508 Q9NSE2 CISH_HUMAN cytokine-inducible SH2-containing protein 211 SOCS box. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CAAAGGGCTGCACCAGTTTTA 0.637 NA 41 95 6.87076e-12 8.23664e-12 0.139131 1 0 GPR128 84873 broad.mit.edu 37 3 100356215 100356215 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr3:100356215G>A uc003duc.2 + 6 935 c.667G>A c.(667-669)GCT>ACT p.A223T GPR128_uc011bhc.1_Silent_p.L6L NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 223 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TCAAAGAGTTGCTGCTACTGC 0.393 Pancreas(87;185 1975 7223 18722) NA 35 52 0 0 0.09836 0 0 IGSF10 285313 broad.mit.edu 37 3 151164743 151164743 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr3:151164743C>G uc011bod.1 - 4 3026 c.3026G>C c.(3025-3027)CGC>CCC p.R1009P NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1009 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTCCCAAAGCGTCTGAACAG 0.488 NA 31 47 0 0 0.183431 0 0 SCHIP1 29970 broad.mit.edu 37 3 159606673 159606673 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr3:159606673G>A uc003fcs.1 + 6 1325 c.1259G>A c.(1258-1260)AGA>AAA p.R420K SCHIP1_uc003fcq.1_Missense_Mutation_p.R496K|SCHIP1_uc003fcr.1_Missense_Mutation_p.R409K|SCHIP1_uc003fct.1_Missense_Mutation_p.R407K|SCHIP1_uc010hvz.1_Missense_Mutation_p.R380K|SCHIP1_uc003fcu.1_Missense_Mutation_p.R177K|SCHIP1_uc003fcv.1_Missense_Mutation_p.R193K NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 420 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) ACCGACCTGAGAGACATGACT 0.388 NA 25 69 0 0 0.0918 0 0 SLIT2 9353 broad.mit.edu 37 4 20620487 20620487 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:20620487G>T uc003gpr.1 + 37 4649 c.4445G>T c.(4444-4446)TGC>TTC p.C1482F SLIT2_uc003gps.1_Missense_Mutation_p.C1474F NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1482 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CGATTAGAGTGCAGAGGTGGG 0.527 NA 19 14 8.10497e-08 9.26948e-08 0.219247 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23803877 23803877 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:23803877T>A uc003gqs.2 - 11 2231 c.2111A>T c.(2110-2112)GAG>GTG p.E704V PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 704 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TGTGCACTCCTCAATTTCACC 0.418 Esophageal Squamous(29;694 744 13796 34866 44181) NA 60 25 0 0 0.139131 0 0 ANAPC4 29945 broad.mit.edu 37 4 25417102 25417102 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:25417102G>T uc003gro.2 + 26 1970 c.1841G>T c.(1840-1842)GGA>GTA p.G614V ANAPC4_uc003grp.2_Missense_Mutation_p.G500V|ANAPC4_uc003grq.2_Missense_Mutation_p.G67V NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 614 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) GTGAGTAATGGACTAATTGCT 0.353 NA 10 8 3.07112e-06 3.45284e-06 0.080935 1 0 AFP 174 broad.mit.edu 37 4 74306366 74306366 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:74306366G>T uc003hgz.1 + 4 365 c.318G>T c.(316-318)GAG>GAT p.E106D AFP_uc003hha.1_Missense_Mutation_p.E106D|AFP_uc011cbg.1_5'Flank NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 106 Albumin 1. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATTTTGGAGAAGTACGGAC 0.393 NA Alpha-Fetoprotein_Hereditary_Persistence_of 47 47 7.92265e-33 1.06527e-32 0.139131 1 0 SHROOM3 57619 broad.mit.edu 37 4 77677649 77677649 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:77677649C>T uc011cbx.1 + 8 5710 c.4757C>T c.(4756-4758)CCT>CTT p.P1586L SHROOM3_uc003hkg.2_Missense_Mutation_p.P1364L NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1586 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) AGGCACATGCCTGGTGCAGCC 0.403 NA 8 21 0 0 0.047766 0 0 PCDH10 57575 broad.mit.edu 37 4 134073114 134073114 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:134073114G>A uc003iha.2 + 1 2645 c.1819G>A c.(1819-1821)GAC>AAC p.D607N uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D607N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 607 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGCCGCCGTGGACGCGGACGA 0.692 NA 14 51 0 0 0.105934 0 0 DCHS2 54798 broad.mit.edu 37 4 155158151 155158151 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:155158151G>A uc003inw.2 - 25 6288 c.6288C>T c.(6286-6288)GTC>GTT p.V2096V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2096 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TATAGGATTTGACTGTGAATT 0.423 NA 4 160 0 0 0.184627 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160268001 160268001 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:160268001G>T uc003iqg.3 + 19 3390 c.3080G>T c.(3079-3081)AGG>ATG p.R1027M NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1027 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTAGCTCCAAGGGCAGGGTCA 0.498 NA 31 67 3.11337e-16 3.97155e-16 0.173368 1 0 FAM134B 54463 broad.mit.edu 37 5 16572124 16572124 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:16572124C>A uc003jfs.2 - 2 446 c.408G>T c.(406-408)ATG>ATT p.M136I NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 136 Helical; (Potential). sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 TAGACAAAACCATATCCTTTA 0.363 NA 8 54 3.09899e-07 3.50397e-07 0.047766 1 0 CDH9 1007 broad.mit.edu 37 5 26881724 26881724 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:26881724C>T uc003jgs.1 - 12 2060 c.1891G>A c.(1891-1893)GTG>ATG p.V631M CDH9_uc011cnv.1_Missense_Mutation_p.V224M NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 631 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GCAAACAACACGACTAAAACT 0.388 Melanoma(8;187 585 15745 40864 52829) NA 5 27 0 0 0.184627 0 0 C9 735 broad.mit.edu 37 5 39341264 39341264 + Nonsense_Mutation SNP G G A rs144138616 TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:39341264G>A uc003jlv.3 - 4 549 c.460C>T c.(460-462)CGA>TGA p.R154* NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 154 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CCTGCTGTTCGTGCCAGCTCA 0.458 NA 41 111 0 0 0.139131 0 0 ZNF131 7690 broad.mit.edu 37 5 43175089 43175089 + Nonsense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:43175089G>T uc011cpw.1 + 7 1762 c.1726G>T c.(1726-1728)GAG>TAG p.E576* ZNF131_uc003jnj.3_Nonsense_Mutation_p.E297*|ZNF131_uc003jnk.2_Nonsense_Mutation_p.E542*|ZNF131_uc003jnn.3_Nonsense_Mutation_p.E297*|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 576 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAACCAAGAGGAGAGAGAGTC 0.488 NA 18 44 6.94344e-10 8.0334e-10 0.175082 1 0 HCN1 348980 broad.mit.edu 37 5 45262605 45262605 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:45262605G>A uc003jok.2 - 8 2116 c.2091C>T c.(2089-2091)TGC>TGT p.C697C NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 697 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGGTGTAGGAGCAGGGTGACA 0.632 NA 11 31 0 0 0.080935 0 0 MCCC2 64087 broad.mit.edu 37 5 70946009 70946009 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:70946009A>G uc003kbs.3 + 15 1625 c.1487A>G c.(1486-1488)CAG>CGG p.Q496R MCCC2_uc003kbt.3_RNA NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 496 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GAAGGAAAGCAGGTCGGTGTC 0.527 NA 16 31 0 0 0.160694 0 0 TBCA 6902 broad.mit.edu 37 5 76987267 76987267 + Silent SNP C C T rs147194873 TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:76987267C>T uc003kfh.1 - 4 407 c.303G>A c.(301-303)CTG>CTA p.L101L TBCA_uc003kfi.1_3'UTR NM_004607 NP_004598 O75347 TBCA_HUMAN tubulin-specific chaperone a 101 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly cytoplasm|microtubule chaperone binding|unfolded protein binding ovary(1) 1 all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40) TCACTGAATCCAGTACTAAAC 0.333 NA 3 12 0 0 0.184627 0 0 AP3B1 8546 broad.mit.edu 37 5 77477446 77477446 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:77477446G>A uc003kfj.2 - 8 952 c.827C>T c.(826-828)TCT>TTT p.S276F NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 276 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ATCATCATCAGATTCGTAGAA 0.348 NA Hermansky-Pudlak_syndrome 9 15 0 0 0.058154 0 0 ARSB 411 broad.mit.edu 37 5 78251288 78251288 + Missense_Mutation SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:78251288T>C uc003kfq.2 - 4 2014 c.728A>G c.(727-729)GAG>GGG p.E243G ARSB_uc003kfr.3_Missense_Mutation_p.E243G NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 243 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CTGAAGGGGCTCATGCACAGA 0.428 Melanoma(169;563 1968 25780 26156 52266) NA 9 46 0 0 0.069234 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101813454 101813454 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:101813454C>G uc003knn.2 - 3 900 c.728G>C c.(727-729)GGA>GCA p.G243A SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.G243A|SLCO6A1_uc003knq.2_Intron NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 243 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAGAGGCATTCCTGCTATTCC 0.408 NA 53 97 0 0 0.139131 0 0 MEGF10 84466 broad.mit.edu 37 5 126755842 126755842 + Silent SNP C C T rs151266058 byFrequency TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:126755842C>T uc003kuh.3 + 13 1895 c.1533C>T c.(1531-1533)GAC>GAT p.D511D MEGF10_uc010jdc.1_Silent_p.D511D|MEGF10_uc010jdd.1_Silent_p.D511D|MEGF10_uc003kui.3_Silent_p.D511D NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 511 Extracellular (Potential).|EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup p.D511D(1) ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACACCCTGGACGGGACCTGCA 0.592 NA 30 61 0 0 0.225048 0 0 GFRA3 2676 broad.mit.edu 37 5 137600050 137600050 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:137600050G>A uc003lcn.2 - 2 419 c.279C>T c.(277-279)CTC>CTT p.L93L GFRA3_uc003lco.2_Silent_p.L93L NM_001496 NP_001487 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 preproprotein 93 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGCTGTTCCTGAGTTGCTGTG 0.597 NA 8 31 0 0 0.038147 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188828 140188828 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:140188828G>C uc003lhi.2 + 1 2157 c.2056G>C c.(2056-2058)GCT>CCT p.A686P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A686P|PCDHA4_uc011daa.1_Missense_Mutation_p.A686P NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 686 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGGTGGGCGCTGTGGGTCC 0.642 NA 15 32 0 0 0.160694 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516913 140516913 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:140516913G>A uc003liq.2 + 1 2114 c.1897G>A c.(1897-1899)GAC>AAC p.D633N NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 633 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCGAGCGCGACGCGGCCAA 0.692 NA 23 50 0 0 0.108266 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626348 140626348 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:140626348A>G uc003lje.2 + 1 1202 c.1202A>G c.(1201-1203)TAC>TGC p.Y401C NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 401 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAATTTCTACAGGCTGGTA 0.458 NA 15 27 0 0 0.132662 0 0 PANK3 79646 broad.mit.edu 37 5 167988438 167988438 + Missense_Mutation SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:167988438T>C uc003lzz.1 - 5 1196 c.896A>G c.(895-897)AAT>AGT p.N299S uc003maa.1_5'Flank|MIR103-1_hsa-mir-103-1|MI0000109_5'Flank NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 299 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) ACCAATGTTATTGGTGATAGT 0.323 NA 12 20 0 0 0.09319 0 0 FOXI1 2299 broad.mit.edu 37 5 169535488 169535488 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:169535488G>T uc003mai.3 + 2 1055 c.1010G>T c.(1009-1011)TGG>TTG p.W337L FOXI1_uc003maj.3_Missense_Mutation_p.W242L NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 337 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGGGTGACTGGGCGAACCCC 0.582 NA Pendred_syndrome 34 80 2.19358e-23 2.87186e-23 0.225048 1 0 HRH2 3274 broad.mit.edu 37 5 175110362 175110362 + Silent SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:175110362C>A uc003mdd.2 + 1 1899 c.126C>A c.(124-126)GCC>GCA p.A42A HRH2_uc003mdc.3_Silent_p.A42A NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 42 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TCTGTCTGGCCGTGGGCTTGA 0.587 NA 60 148 1.02487e-32 1.36879e-32 0.139131 1 0 NSD1 64324 broad.mit.edu 37 5 176637018 176637018 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr5:176637018G>T uc003mfr.3 + 5 1756 c.1618G>T c.(1618-1620)GGG>TGG p.G540W NSD1_uc003mft.3_Missense_Mutation_p.G271W|NSD1_uc003mfs.1_Missense_Mutation_p.G437W|NSD1_uc011dfx.1_Missense_Mutation_p.G188W NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 540 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTTTATCTCTGGGGATATATC 0.438 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 30 53 3.11337e-16 3.97155e-16 0.173368 1 0 EXOC2 55770 broad.mit.edu 37 6 549247 549247 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:549247T>A uc003mtd.2 - 22 2300 c.2166A>T c.(2164-2166)GAA>GAT p.E722D EXOC2_uc003mte.2_Missense_Mutation_p.E722D|EXOC2_uc011dho.1_Missense_Mutation_p.E317D NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 722 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AGGTGTGACGTTCTAGATAGC 0.383 NA 42 80 0 0 0.09836 0 0 ATXN1 6310 broad.mit.edu 37 6 16306818 16306818 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:16306818G>A uc003nbt.2 - 9 3161 c.2190C>T c.(2188-2190)ATC>ATT p.I730I ATXN1_uc010jpi.2_Silent_p.I730I|ATXN1_uc010jpj.1_RNA NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 730 Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TCCCCTGGTTGATTCCGTTTT 0.587 NA 5 95 0 0 0.184627 0 0 HLA-G 3135 broad.mit.edu 37 6 29797446 29797446 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:29797446C>T uc003nnw.2 + 5 1049 c.871C>T c.(871-873)CCG>TCG p.P291S HLA-G_uc011dmb.1_Missense_Mutation_p.P263S|HLA-G_uc003raj.3_Missense_Mutation_p.P296S|HLA-G_uc003nnz.3_Missense_Mutation_p.P199S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 291 Extracellular (Potential).|Ig-like C1-type.|Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 TGAGGGGCTGCCGGAGCCCCT 0.582 NA 7 24 0 0 0.038147 0 0 HLA-A 3105 broad.mit.edu 37 6 29910587 29910587 + Nonsense_Mutation SNP G G T rs41549014 TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:29910587G>T uc003nol.2 + 2 127 c.127G>T c.(127-129)GAG>TAG p.E43* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.E43*|HLA-A_uc003noo.2_Nonsense_Mutation_p.E43*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.E43*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.E15*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 43 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CGGCCGCGGGGAGCCCCGCTT 0.706 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 3 13 1.23904e-05 1.36983e-05 0.184627 1 0 LY6G6F 259215 broad.mit.edu 37 6 31675858 31675858 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:31675858G>T uc003nwa.1 + 3 593 c.593G>T c.(592-594)AGA>ATA p.R198I BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.R198I NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 198 Extracellular (Potential). integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 CGAAGACCAAGAATCATCCGC 0.542 NA 6 139 3.09899e-07 3.50397e-07 0.047766 1 0 SYNGAP1 8831 broad.mit.edu 37 6 33405994 33405994 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:33405994G>A uc011dri.1 + 8 1507 c.1312G>A c.(1312-1314)GCC>ACC p.A438T SYNGAP1_uc003oeo.1_Missense_Mutation_p.A423T|SYNGAP1_uc010juy.2_Missense_Mutation_p.A423T|SYNGAP1_uc010juz.2_Missense_Mutation_p.A150T NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 438 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CTTGGAGCCCGCCCTGAATGT 0.512 NA 94 169 0 0 0.139131 0 0 GPR126 57211 broad.mit.edu 37 6 142691435 142691435 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:142691435G>A uc010khc.2 + 4 985 c.574G>A c.(574-576)GTT>ATT p.V192I GPR126_uc010khd.2_Missense_Mutation_p.V192I|GPR126_uc010khe.2_Missense_Mutation_p.V192I|GPR126_uc010khf.2_Missense_Mutation_p.V192I|GPR126_uc003qix.2_Missense_Mutation_p.V192I NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 192 Pentaxin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AGCAACCAAAGTTGGCCATGA 0.438 NA 10 8 0 0 0.09319 0 0 THSD7A 221981 broad.mit.edu 37 7 11486868 11486868 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:11486868C>T uc003ssf.3 - 12 3041 c.2789G>A c.(2788-2790)CGC>CAC p.R930H NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 930 TSP type-1 9.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACAAGAGTGCGCTTTCTGGT 0.463 NA HNSCC(18;0.044) 7 23 0 0 0.02938 0 0 HOXA10 3206 broad.mit.edu 37 7 27211592 27211592 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:27211592G>A uc011jzm.1 - 2 1189 c.1159C>T c.(1159-1161)CGC>TGC p.R387C MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R71C NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 387 Homeobox. R -> P (in Ref. 7; AAD14030/AAD14031). spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCATCCTGCGGTTCTGAAAC 0.478 NA 5 53 0 0 0.184627 0 0 DPY19L1 23333 broad.mit.edu 37 7 34989430 34989430 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:34989430C>T uc003tem.3 - 14 1327 c.1182G>A c.(1180-1182)GAG>GAA p.E394E NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 394 integral to membrane 0 TAAAGTCAAACTCCGCTGCAC 0.338 NA 7 28 0 0 0.047766 0 0 AMPH 273 broad.mit.edu 37 7 38431514 38431514 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:38431514G>A uc003tgu.2 - 19 1782 c.1713C>T c.(1711-1713)GAC>GAT p.D571D AMPH_uc003tgv.2_Silent_p.D529D|AMPH_uc003tgt.2_Silent_p.D456D|AMPH_uc003tgw.1_Silent_p.D594D|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 571 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GAGGAGCCGCGTCCTCGGTGG 0.607 NA 14 29 0 0 0.146539 0 0 CACNA2D1 781 broad.mit.edu 37 7 81634739 81634739 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:81634739C>A uc003uhr.1 - 18 1846 c.1590G>T c.(1588-1590)AAG>AAT p.K530N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 530 Extracellular (Potential).|Cache. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATATACTGACCTTTGGCTGAA 0.289 NA 6 15 8.12818e-05 8.64978e-05 0.02938 1 0 ASNS 440 broad.mit.edu 37 7 97481608 97481608 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:97481608C>A uc003uot.3 - 13 2155 c.1649G>T c.(1648-1650)CGC>CTC p.R550L ASNS_uc011kin.1_Missense_Mutation_p.R467L|ASNS_uc003uou.3_Missense_Mutation_p.R550L|ASNS_uc003uov.3_Missense_Mutation_p.R550L|ASNS_uc011kio.1_Missense_Mutation_p.R529L|ASNS_uc003uow.3_Missense_Mutation_p.R529L|ASNS_uc003uox.3_Missense_Mutation_p.R467L NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 550 cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGTCAGCGTGCGGGCAGAAGG 0.512 Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738) NA 11 51 2.80697e-09 3.22883e-09 0.080935 1 0 EPO 2056 broad.mit.edu 37 7 100319326 100319326 + Silent SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:100319326G>A uc003uwi.2 + 2 340 c.159G>A c.(157-159)ACG>ACA p.T53T EPO_uc011kkc.1_Silent_p.T53T NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 53 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) AGAATATCACGGTGAGACCCC 0.612 NA 7 29 0 0 0.038147 0 0 TAS2R16 50833 broad.mit.edu 37 7 122634844 122634844 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:122634844G>T uc003vkl.1 - 1 911 c.845C>A c.(844-846)ACG>AAG p.T282K NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 282 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 CCTTTTCAACGTAGGGCTGCT 0.423 NA 44 81 1.63429e-32 2.16816e-32 0.139131 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:140453136A>T uc003vwc.3 - 15 1860 c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368 Colon(40;35 892 2973 5743 27438) V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 24 53 0 0 0.134883 0 0 BRAF 673 broad.mit.edu 37 7 140534477 140534477 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr7:140534477G>A uc003vwc.3 - 3 497 c.436C>T c.(436-438)CGG>TGG p.R146W NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 146 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) GGGTTGCTCCGTGCCACATCT 0.438 Colon(40;35 892 2973 5743 27438) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 26 61 0 0 0.108266 0 0 XKR5 389610 broad.mit.edu 37 8 6682698 6682698 + Missense_Mutation SNP T T A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr8:6682698T>A uc003wqp.2 - 3 438 c.416A>T c.(415-417)GAT>GTT p.D139V XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA NM_207411 NP_997294 Q6UX68 XKR5_HUMAN XK-related protein 5a 139 integral to membrane 0 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGGCACAATATCTGTGAAGTC 0.557 NA 9 21 0 0 0.09319 0 0 PRKDC 5591 broad.mit.edu 37 8 48801713 48801713 + Missense_Mutation SNP C C A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr8:48801713C>A uc003xqi.2 - 34 4199 c.4142G>T c.(4141-4143)AGC>ATC p.S1381I PRKDC_uc003xqj.2_Missense_Mutation_p.S1381I|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1381 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAAACCTATGCTTGCGGGCTC 0.443 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 13 29 6.72482e-11 7.96571e-11 0.132662 1 0 NCOA2 10499 broad.mit.edu 37 8 71075726 71075726 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr8:71075726C>T uc003xyn.1 - 8 968 c.806G>A c.(805-807)AGT>AAT p.S269N NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 269 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTAGTAAAACTTTCTGATGA 0.393 NA T RUNXBP2 AML 17 31 0 0 0.175082 0 0 SLC25A32 81034 broad.mit.edu 37 8 104419926 104419926 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr8:104419926G>A uc003yll.2 - 2 544 c.241C>T c.(241-243)CTT>TTT p.L81F SLC25A32_uc011lhr.1_5'UTR NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 81 Solcar 1. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) CCTTGATAAAGTCCCCGTAGT 0.388 NA 55 77 0 0 0.139131 0 0 COL22A1 169044 broad.mit.edu 37 8 139606389 139606389 + Missense_Mutation SNP G G C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr8:139606389G>C uc003yvd.2 - 63 4933 c.4486C>G c.(4486-4488)CAA>GAA p.Q1496E COL22A1_uc011ljo.1_Missense_Mutation_p.Q776E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1496 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTCTGCCTTGAGATGACTTC 0.617 NA HNSCC(7;0.00092) 3 40 0 0 0.115264 0 0 IFNA16 3449 broad.mit.edu 37 9 21216973 21216973 + Missense_Mutation SNP T T C TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr9:21216973T>C uc003zor.1 - 1 338 c.332A>G c.(331-333)GAA>GGA p.E111G IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 111 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CTGGAAAAGTTCAATGTAGAA 0.488 NA 36 200 0 0 0.193644 0 0 ABCA1 19 broad.mit.edu 37 9 107562812 107562812 + Silent SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr9:107562812C>T uc004bcl.2 - 35 5065 c.4752G>A c.(4750-4752)CTG>CTA p.L1584L NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1584 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTTGGTGTCCAGTCCTGTCA 0.393 NA 9 107 0 0 0.069234 0 0 ZBTB34 403341 broad.mit.edu 37 9 129642655 129642655 + Missense_Mutation SNP A A G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr9:129642655A>G uc004bqm.3 + 2 1062 c.965A>G c.(964-966)CAG>CGG p.Q322R NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGTGCCCGCCAGAAGCGGGCT 0.567 NA 11 21 0 0 0.080935 0 0 MXRA5 25878 broad.mit.edu 37 X 3235828 3235828 + Missense_Mutation SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chrX:3235828C>G uc004crg.3 - 6 6051 c.5894G>C c.(5893-5895)GGA>GCA p.G1965A NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1965 Ig-like C2-type 4. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AATGGTGTCTCCCAGGTAGAC 0.582 NA 4 20 0 0 0.184627 0 0 RGAG4 340526 broad.mit.edu 37 X 71350580 71350580 + Missense_Mutation SNP G G A TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chrX:71350580G>A uc010nlh.1 - 1 1172 c.811C>T c.(811-813)CGC>TGC p.R271C NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 271 ovary(2)|skin(1) 3 Renal(35;0.156) TTTTGGAGGCGGCAGTCATCC 0.507 NA 13 66 0 0 0.11911 0 0 GPR174 84636 broad.mit.edu 37 X 78427044 78427044 + Silent SNP C C G TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chrX:78427044C>G uc004edg.1 + 1 576 c.540C>G c.(538-540)GCC>GCG p.A180A NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 180 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TCAACCTGGCCCAGTCCGTTG 0.463 NA HNSCC(63;0.18) 35 28 0 0 0.203993 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134202 91134202 + Missense_Mutation SNP C C T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chrX:91134202C>T uc004efk.1 + 2 3808 c.2963C>T c.(2962-2964)CCC>CTC p.P988L PCDH11X_uc004efl.1_Missense_Mutation_p.P988L|PCDH11X_uc004efo.1_Missense_Mutation_p.P988L|PCDH11X_uc010nmv.1_Missense_Mutation_p.P988L|PCDH11X_uc004efm.1_Missense_Mutation_p.P988L|PCDH11X_uc004efn.1_Missense_Mutation_p.P988L|PCDH11X_uc004efh.1_Missense_Mutation_p.P988L|PCDH11X_uc004efj.1_Missense_Mutation_p.P988L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 988 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AGTTCAGATCCCTACAGCGTT 0.498 NSCLC(38;925 1092 2571 38200 45895) NA 62 57 0 0 0.139131 0 0 JTB 10899 broad.mit.edu 37 1 153949696 153949711 + Frame_Shift_Del DEL GGGGAGGCCAGGCCTC GGGGAGGCCAGGCCTC - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 GGGGAGGCCAGGCCTC GGGGAGGCCAGGCCTC - - GGGGAGGCCAGGCCTC GGGGAGGCCAGGCCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:153949696_153949711delGGGGAGGCCAGGCCTC uc001fds.2 - 1 741_756 c.18_33delGAGGCCTGGCCTCCCC c.(16-33)GGGAGGCCTGGCCTCCCCfs p.G6fs NM_006694 NP_006685 O76095 JTB_HUMAN jumping translocation breakpoint precursor 6_11 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCCG 0.639 NA 8 92 --- --- --- --- NA NA NA NA NA MARK1 4139 broad.mit.edu 37 1 220791735 220791736 + Frame_Shift_Ins INS - - T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr1:220791735_220791736insT uc001hmn.3 + 8 1233_1234 c.636_637insT c.(634-639)AAATTGfs p.K212fs MARK1_uc009xdw.2_Frame_Shift_Ins_p.K212fs|MARK1_uc010pun.1_Frame_Shift_Ins_p.K212fs|MARK1_uc001hmm.3_Frame_Shift_Ins_p.K190fs NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 212_213 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TTGGGAACAAATTGGACACATT 0.411 NA 38 35 --- --- --- --- NA NA NA NA NA C14orf4 64207 broad.mit.edu 37 14 77493792 77493794 + In_Frame_Del DEL TGT TGT - rs28718623 TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 TGT TGT - - TGT TGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr14:77493792_77493794delTGT uc001xsy.2 - 1 1241_1243 c.342_344delACA c.(340-345)CAACAG>CAG p.114_115QQ>Q NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 114_115 Poly-Gln.|Potential. nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) ctgctgctgctgttgctgctgct 0.266 NA 2 4 --- --- --- --- NA NA NA NA NA MGRN1 23295 broad.mit.edu 37 16 4727498 4727500 + In_Frame_Del DEL GAA GAA - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr16:4727498_4727500delGAA uc002cwz.2 + 11 1126_1128 c.990_992delGAA c.(988-993)CGGAAG>CGG p.K332del MGRN1_uc002cxa.2_In_Frame_Del_p.K332del|MGRN1_uc010btx.2_In_Frame_Del_p.K333del|MGRN1_uc010btw.2_In_Frame_Del_p.K333del|MGRN1_uc002cxb.2_In_Frame_Del_p.K371del|MGRN1_uc010uxo.1_In_Frame_Del_p.K332del|MGRN1_uc010uxp.1_In_Frame_Del_p.K332del|MGRN1_uc010uxq.1_Intron NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 332 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 GGGCGGTGCGGAAGAAGCCAGGA 0.685 NA 15 38 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579583 7579583 + Frame_Shift_Del DEL A A - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr17:7579583delA uc002gim.2 - 4 298 c.104delT c.(103-105)TTGfs p.L35fs TP53_uc002gig.1_Frame_Shift_Del_p.L35fs|TP53_uc002gih.2_Frame_Shift_Del_p.L35fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.L35fs|TP53_uc010cni.1_Frame_Shift_Del_p.L35fs|TP53_uc002gij.2_Frame_Shift_Del_p.L35fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L50fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 35 Transcription activation (acidic).|Interaction with HRMT1L2. L -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L35F(3)|p.L35fs*9(2)|p.L35fs*8(1)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S33fs*6(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGGGACGGCAAGGGGGACTG 0.388 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 73 107 --- --- --- --- NA NA NA NA NA SETBP1 26040 broad.mit.edu 37 18 42531549 42531549 + Frame_Shift_Del DEL C C - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:42531549delC uc010dni.2 + 4 2540 c.2244delC c.(2242-2244)CACfs p.H748fs NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 748 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCATCAAGCACCCCAGGCCTG 0.562 NA Schinzel-Giedion_syndrome 21 57 --- --- --- --- NA NA NA NA NA DSEL 92126 broad.mit.edu 37 18 65180619 65180619 + Frame_Shift_Del DEL T T - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr18:65180619delT uc002lke.1 - 2 2481 c.1257delA c.(1255-1257)ATAfs p.I419fs NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 409 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GGAATGTGTGTATTTTTGCAG 0.488 NA 23 36 --- --- --- --- NA NA NA NA NA SGOL2 151246 broad.mit.edu 37 2 201434609 201434609 + Frame_Shift_Del DEL C C - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr2:201434609delC uc002uvw.2 + 6 810 c.697delC c.(697-699)CCCfs p.P233fs SGOL2_uc002uvv.3_Frame_Shift_Del_p.P233fs|SGOL2_uc010zhd.1_Frame_Shift_Del_p.P233fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.P233fs NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 233 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TGATGTACCTCCCAGAGGTGA 0.289 NA 19 59 --- --- --- --- NA NA NA NA NA FAM175A 84142 broad.mit.edu 37 4 84393370 84393390 + Splice_Site DEL AATACCTTTTTGACATTTGAT AATACCTTTTTGACATTTGAT - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 AATACCTTTTTGACATTTGAT AATACCTTTTTGACATTTGAT - - AATACCTTTTTGACATTTGAT AATACCTTTTTGACATTTGAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr4:84393370_84393390delAATACCTTTTTGACATTTGAT uc003hou.2 - 4 347 c.282_splice c.e4+1 p.K94_splice FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Intron NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 TAAATTAGAGAATACCTTTTTGACATTTGATAATATTTTCT 0.276 NA 3 6 --- --- --- --- NA NA NA NA NA PRPF4B 8899 broad.mit.edu 37 6 4032674 4032674 + Frame_Shift_Del DEL G G - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr6:4032674delG uc003mvv.2 + 2 1014 c.923delG c.(922-924)CGGfs p.R308fs PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 308 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGAAGGTCACGGTCCAAAGAG 0.368 NA 17 52 --- --- --- --- NA NA NA NA NA BAT2L1 84726 broad.mit.edu 37 9 134353948 134353948 + Frame_Shift_Del DEL C C - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d4b2ade8-2d2e-4e63-8cde-bcdb7e28e8b1 b4cf6e53-f5cd-433e-9571-98dca4a35bf3 g.chr9:134353948delC uc004can.3 + 17 4755 c.4700delC c.(4699-4701)ACCfs p.T1567fs BAT2L1_uc004cao.3_Frame_Shift_Del_p.T925fs NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1567 Potential. protein binding 0 GAAGTCCTGACCAAGAAGCAG 0.617 NA OREG0019562 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 89 --- --- --- --- NA NA NA NA NA