Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF10 343071 broad.mit.edu 37 1 12954578 12954578 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:12954578A>G uc001auo.2 - 3 778 c.705T>C c.(703-705)CGT>CGC p.R235R NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 235 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAAGAGTTCACGAAGATTGC 0.488 NA 3 130 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22923821 22923821 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:22923821C>T uc001bfx.1 + 10 1907 c.1782C>T c.(1780-1782)TTC>TTT p.F594F NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 594 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CACCTGTCTTCCTGCCTCTGC 0.657 NA 15 48 0 0 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33059296 33059296 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:33059296C>T uc001bvn.2 + 3 1249 c.764C>T c.(763-765)TCT>TTT p.S255F ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.S255F NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAATGGACTCTACTCCTGTT 0.438 NA 16 45 0 0 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235677 33235677 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:33235677C>G uc001bvv.2 + 6 856 c.720C>G c.(718-720)GTC>GTG p.V240V KIAA1522_uc001bvu.1_Silent_p.V299V|KIAA1522_uc010ohm.1_Silent_p.V251V|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 240 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTGACCGTGTCTACCGGGATG 0.682 NA 19 47 0 0 0 0 MFSD2A 84879 broad.mit.edu 37 1 40424394 40424394 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:40424394A>G uc001cev.2 + 3 470 c.289A>G c.(289-291)ATC>GTC p.I97V MFSD2A_uc010ojb.1_Missense_Mutation_p.I47V|MFSD2A_uc001ceu.2_Missense_Mutation_p.I84V|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_RNA NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 97 Helical; (Potential). transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CTCTGCCTCCATCATCCTGTT 0.582 NA 50 152 0 0 0 0 CPT2 1376 broad.mit.edu 37 1 53675843 53675843 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:53675843T>A uc001cvb.3 + 4 1012 c.497T>A c.(496-498)CTC>CAC p.L166H NM_000098 NP_000089 P23786 CPT2_HUMAN carnitine O-palmitoyltransferase precursor 166 Mitochondrial matrix (By similarity). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity 0 L-Carnitine(DB00583)|Perhexiline(DB01074) CTGAAGACACTCCGGGCTGGC 0.493 NA 21 51 0 0 0 0 IGSF3 3321 broad.mit.edu 37 1 117142910 117142910 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:117142910G>C uc001egr.1 - 7 2387 c.1682C>G c.(1681-1683)TCC>TGC p.S561C IGSF3_uc001egq.1_Missense_Mutation_p.S581C|IGSF3_uc001egs.1_Missense_Mutation_p.S234C NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 561 Ig-like C2-type 5.|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) CAAGTCAAAGGAGTCGCTGTA 0.592 NA 18 68 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859816 144859816 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:144859816T>C uc001elw.3 - 38 6559 c.6268A>G c.(6268-6270)ATT>GTT p.I2090V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I1984V|PDE4DIP_uc001elv.3_Missense_Mutation_p.I1097V NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2090 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCTGGTTAATGGAGGAGGGG 0.577 NA T PDGFRB MPD 7 98 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296440 145296440 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:145296440G>A uc001end.3 + 3 397 c.362G>A c.(361-363)CGC>CAC p.R121H NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.R121H|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 121 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGCCTCCCGCTCATTGTAT 0.562 NA 6 290 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159907550 159907550 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:159907550C>T uc001fur.2 - 4 524 c.326G>A c.(325-327)CGC>CAC p.R109H IGSF9_uc001fuq.2_Missense_Mutation_p.R109H NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 109 Ig-like 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GAAGAACACGCGGCACTCGTA 0.602 NA 18 60 0 0 0 0 DCAF6 55827 broad.mit.edu 37 1 168014380 168014380 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:168014380G>A uc001gew.2 + 14 2184 c.1942G>A c.(1942-1944)GAC>AAC p.D648N DCAF6_uc001gev.2_Missense_Mutation_p.D668N|DCAF6_uc001gex.2_Missense_Mutation_p.D725N|DCAF6_uc010plk.1_Missense_Mutation_p.D694N|DCAF6_uc001gey.2_Missense_Mutation_p.D521N|DCAF6_uc001gez.2_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 648 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 ATCCACCAGGGACTCTGCTCT 0.483 NA 13 28 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181702754 181702754 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:181702754C>T uc001gow.2 + 21 3295 c.3130C>T c.(3130-3132)CGG>TGG p.R1044W CACNA1E_uc009wxs.2_Missense_Mutation_p.R932W|CACNA1E_uc001gox.1_Missense_Mutation_p.R270W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R270W NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1044 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AGACATGGGCCGGGTCATCAG 0.647 NA 6 17 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196309633 196309633 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:196309633G>A uc001gtd.1 - 16 1681 c.1621C>T c.(1621-1623)CGA>TGA p.R541* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.R491*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R541*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.R541*|KCNT2_uc001gth.1_Nonsense_Mutation_p.R62* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 541 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATAATGTATCGAGGACCTGGA 0.323 NA 21 53 0 0 0 0 FAM71A 149647 broad.mit.edu 37 1 212799632 212799632 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:212799632T>G uc001hjk.2 + 1 1817 c.1413T>G c.(1411-1413)GAT>GAG p.D471E uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 471 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CCAATAGAGATGACAAAAAGG 0.557 NA 20 44 0 0 0 0 MARK1 4139 broad.mit.edu 37 1 220805593 220805593 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:220805593A>G uc001hmn.3 + 11 1657 c.1060A>G c.(1060-1062)ATA>GTA p.I354V MARK1_uc009xdw.2_Missense_Mutation_p.I354V|MARK1_uc010pun.1_Missense_Mutation_p.I354V|MARK1_uc001hmm.3_Missense_Mutation_p.I332V NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 354 UBA. 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) TGATGCCTTAATAAATCAGAA 0.299 NA 70 218 0 0 0 0 SNAP47 116841 broad.mit.edu 37 1 227935613 227935613 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:227935613A>T uc001hrf.2 + 2 725 c.311A>T c.(310-312)GAG>GTG p.E104V SNAP47_uc001hqz.2_Missense_Mutation_p.E59V|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.E104V|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Missense_Mutation_p.E59V NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 104 endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 ATCAAGAAGGAGGCTTCACAT 0.527 NA 20 48 0 0 0 0 EXO1 9156 broad.mit.edu 37 1 242020736 242020736 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:242020736A>G uc001hzh.2 + 7 1035 c.495A>G c.(493-495)CAA>CAG p.Q165Q EXO1_uc001hzi.2_Silent_p.Q165Q|EXO1_uc001hzj.2_Silent_p.Q165Q|EXO1_uc009xgq.2_Silent_p.Q165Q NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 165 I-domain.|Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GAATTGTGCAAGCCATAATTA 0.458 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 20 59 0 0 0 0 OR2L13 284521 broad.mit.edu 37 1 248262997 248262997 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:248262997C>T uc001ids.2 + 3 657 c.320C>T c.(319-321)GCG>GTG p.A107V NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A107V(1) central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTGACCATGGCGTGTTCTGAA 0.517 NA 66 224 0 0 0 0 TMEM72 643236 broad.mit.edu 37 10 45430152 45430152 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:45430152G>A uc001jbn.2 + 5 595 c.398G>A c.(397-399)CGG>CAG p.R133Q uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.R15Q NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 133 integral to membrane 0 CTGAGCAAGCGGAAGAAGAGG 0.602 NA 25 79 0 0 0 0 CHAT 1103 broad.mit.edu 37 10 50833611 50833611 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:50833611T>C uc001jhz.2 + 6 998 c.845T>C c.(844-846)CTC>CCC p.L282P CHAT_uc001jhv.1_Missense_Mutation_p.L164P|CHAT_uc001jhx.1_Missense_Mutation_p.L164P|CHAT_uc001jhy.1_Missense_Mutation_p.L164P|CHAT_uc001jia.2_Missense_Mutation_p.L164P|CHAT_uc010qgs.1_Missense_Mutation_p.L164P NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 282 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCCTACCGGCTCCCCGGCCAT 0.592 NA 10 7 0 0 0 0 SH2D4B 387694 broad.mit.edu 37 10 82403807 82403807 + Silent SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:82403807A>C uc001kck.1 + 7 1474 c.1044A>C c.(1042-1044)GGA>GGC p.G348G SH2D4B_uc001kcl.1_Silent_p.G300G|SH2D4B_uc001kcm.1_Missense_Mutation_p.D169A|SH2D4B_uc001kcn.1_RNA NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 Error:Variant_position_missing_in_Q5SQS7_after_alignment 0 Colorectal(32;0.229) GGACAGAGGGACAGCCCACCA 0.373 NA 9 36 0 0 0 0 CNNM2 54805 broad.mit.edu 37 10 104835934 104835934 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:104835934G>A uc001kwm.2 + 7 2449 c.2325G>A c.(2323-2325)CTG>CTA p.L775L CNNM2_uc001kwn.2_Silent_p.L753L NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 775 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CACCAACACTGGGGAGCAGCA 0.527 NA 3 12 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129216755 129216755 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr10:129216755A>T uc001ljt.2 + 45 4643 c.4579A>T c.(4579-4581)AAC>TAC p.N1527Y DOCK1_uc010qun.1_Missense_Mutation_p.N1548Y|DOCK1_uc009yaq.2_Missense_Mutation_p.N522Y NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1527 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CATGCTCCTGAACGGCATCGT 0.602 NA 7 26 0 0 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629441 1629441 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:1629441A>G uc001ltw.1 - 1 253 c.175T>C c.(175-177)TCC>CCC p.S59P NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 59 11 X 4 AA repeats of C-C-X-P. keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCCCCACAGGAGCCACAGCTG 0.677 NA 72 193 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6653621 6653621 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:6653621G>T uc001mem.1 - 6 3532 c.3122C>A c.(3121-3123)GCA>GAA p.A1041E NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1041 Cadherin 10.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGCTACTTGCTCCCTCTGC 0.597 NA 15 38 2.23e-06 2.37e-06 1 0 SLC15A3 51296 broad.mit.edu 37 11 60709581 60709581 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr11:60709581G>C uc001nqn.2 - 4 1267 c.1033C>G c.(1033-1035)CAC>GAC p.H345D SLC15A3_uc001nqo.2_Missense_Mutation_p.H345D NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 345 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 TTTGGGATGTGGAGGTGAAGA 0.577 NA 33 111 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 330578 330578 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:330578G>A uc001qic.1 - 14 1703 c.1650C>T c.(1648-1650)CTC>CTT p.L550L SLC6A13_uc009zdj.1_Silent_p.L540L|SLC6A13_uc010sdl.1_Silent_p.L458L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 550 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGAGTCTGTAGAGGCTCCAGG 0.632 NA 8 15 0 0 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954990 10954990 + Silent SNP G G A rs141765045 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:10954990G>A uc001qyv.2 - 1 237 c.180C>T c.(178-180)TGC>TGT p.C60C NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 60 Helical; Name=2; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 ATAGTATTACGCACAATAGAC 0.378 NA 26 64 0 0 0 0 CEP290 80184 broad.mit.edu 37 12 88480186 88480186 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:88480186T>C uc001tar.2 - 33 4628 c.4284A>G c.(4282-4284)ATA>ATG p.I1428M CEP290_uc001taq.2_Missense_Mutation_p.I488M NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1428 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CCGCATTTAGTATTTCATTTT 0.363 NA 5 17 0 0 0 0 UTP20 27340 broad.mit.edu 37 12 101748816 101748816 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:101748816A>G uc001tia.1 + 41 5470 c.5314A>G c.(5314-5316)ATA>GTA p.I1772V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1772 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 CAAGGAAGAAATAGAGAGAAC 0.433 NA 8 47 0 0 0 0 GNPTAB 79158 broad.mit.edu 37 12 102153816 102153816 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:102153816G>A uc001tit.2 - 16 3420 c.3241C>T c.(3241-3243)CCC>TCC p.P1081S NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 1081 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 ACCAGGTTGGGATCATAGTAG 0.388 NA 15 47 0 0 0 0 TRPV4 59341 broad.mit.edu 37 12 110240837 110240837 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:110240837C>A uc001tpj.1 - 3 766 c.671G>T c.(670-672)AGG>ATG p.R224M TRPV4_uc001tpg.1_Missense_Mutation_p.R190M|TRPV4_uc001tph.1_Missense_Mutation_p.R224M|TRPV4_uc001tpi.1_Missense_Mutation_p.R224M|TRPV4_uc001tpk.1_Missense_Mutation_p.R224L|TRPV4_uc001tpl.1_Missense_Mutation_p.R224L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 224 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AATGAACTCCCTCATGTTGCC 0.632 NA 15 29 4.75e-09 5.22e-09 1 0 SPPL3 121665 broad.mit.edu 37 12 121206162 121206162 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:121206162G>C uc001tzd.2 - 8 1220 c.739C>G c.(739-741)CGC>GGC p.R247G SPPL3_uc009zwz.2_Missense_Mutation_p.R240G|SPPL3_uc001tzc.2_Missense_Mutation_p.R77G NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 248 integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAGACAGGCGAGGAACATCA 0.562 NA 26 99 0 0 0 0 WASF3 10810 broad.mit.edu 37 13 27257005 27257005 + Silent SNP G G A rs148684191 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:27257005G>A uc001uqv.2 + 9 1470 c.1245G>A c.(1243-1245)TCG>TCA p.S415S WASF3_uc001uqw.2_Silent_p.S412S NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 415 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTTCTCTTTCGTCCTCCCCAA 0.677 NA 27 91 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99476709 99476709 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:99476709G>T uc001vnt.2 - 46 5131 c.5076C>A c.(5074-5076)ATC>ATA p.I1692I DOCK9_uc001vnw.2_Silent_p.I1691I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.I1669I|DOCK9_uc001vnq.2_Silent_p.I241I|DOCK9_uc001vnr.2_Silent_p.I335I|DOCK9_uc010tin.1_Silent_p.I312I|DOCK9_uc001vns.2_Silent_p.I241I|DOCK9_uc010tio.1_Silent_p.I361I|DOCK9_uc010tip.1_Silent_p.I402I|DOCK9_uc001vnu.1_Silent_p.I241I|DOCK9_uc010tiq.1_Silent_p.I647I NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1692 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTCCTCGTCGATGTTTGGGG 0.537 NA 32 111 1.36e-19 1.56e-19 1 0 C13orf39 196541 broad.mit.edu 37 13 103343240 103343240 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:103343240C>T uc001vpj.2 - 2 211 c.205G>A c.(205-207)GAG>AAG p.E69K C13orf39_uc001vpk.2_Missense_Mutation_p.E69K NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 69 methyltransferase activity 0 CGATAATGCTCCTGAGTGTAG 0.448 NA 25 56 0 0 0 0 MYH6 4624 broad.mit.edu 37 14 23862217 23862217 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr14:23862217C>T uc001wjv.2 - 24 3222 c.3155G>A c.(3154-3156)CGA>CAA p.R1052Q NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1052 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGCTTTGCTCGCTCCAGGTC 0.488 NA 31 73 0 0 0 0 RTF1 23168 broad.mit.edu 37 15 41750014 41750014 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:41750014A>G uc001zny.2 + 4 614 c.602A>G c.(601-603)GAG>GGG p.E201G NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 201 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CAGATGACAGAGAAAGAGAGA 0.517 NA 27 71 0 0 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621833 65621833 + Silent SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:65621833T>G uc002aos.2 - 13 2352 c.2100A>C c.(2098-2100)GGA>GGC p.G700G IGDCC3_uc002aor.1_5'UTR NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 700 Cytoplasmic (Potential). ovary(3) 3 GGCCCCGCTGTCCCCGTCTCG 0.647 NA 33 59 0 0 0 0 ACAN 176 broad.mit.edu 37 15 89398654 89398654 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:89398654C>T uc010upo.1 + 12 3212 c.2838C>T c.(2836-2838)GGC>GGT p.G946G ACAN_uc010upp.1_Silent_p.G946G|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 946 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCCTAGAGGGCTCTGCCTCTG 0.557 NA 21 63 0 0 0 0 FES 2242 broad.mit.edu 37 15 91433462 91433462 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:91433462C>T uc002bpv.2 + 9 1286 c.1190C>T c.(1189-1191)CCG>CTG p.P397L FES_uc010uqj.1_Missense_Mutation_p.P339L|FES_uc010uqk.1_Missense_Mutation_p.P379L|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.P339L|FES_uc002bpx.2_Missense_Mutation_p.P397L|FES_uc002bpy.2_Missense_Mutation_p.P339L NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 397 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGCGAGCCCCCGCCTGTGCTG 0.726 NA 11 22 0 0 0 0 RAB40C 57799 broad.mit.edu 37 16 640410 640410 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:640410A>G uc002chr.2 + 1 235 c.119A>G c.(118-120)GAG>GGG p.E40G RAB40C_uc002chq.2_Missense_Mutation_p.E40G NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 40 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) GGCGCGGCAGAGTCCCCGTAC 0.612 NA 7 24 0 0 0 0 PTX4 390667 broad.mit.edu 37 16 1538463 1538463 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:1538463C>T uc010uvf.1 - 1 6 c.6G>A c.(4-6)GGG>GGA p.G2G NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like Error:Variant_position_missing_in_Q96A99_after_alignment extracellular region metal ion binding 0 AGTTTCCACTCCCCATGACAC 0.652 NA 3 33 0 0 0 0 CREBBP 1387 broad.mit.edu 37 16 3781253 3781253 + Silent SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:3781253G>C uc002cvv.2 - 30 5316 c.5112C>G c.(5110-5112)GTC>GTG p.V1704V CREBBP_uc002cvw.2_Silent_p.V1666V NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1704 Interaction with TRERF1.|ZZ-type. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCAGGTGTAGACAAAGCGGT 0.662 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 13 57 0 0 0 0 CLEC16A 23274 broad.mit.edu 37 16 11114117 11114117 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:11114117G>A uc002dao.2 + 12 1601 c.1371G>A c.(1369-1371)GAG>GAA p.E457E CLEC16A_uc002dan.3_Silent_p.E439E NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 457 p.0?(1) ovary(1)|central_nervous_system(1) 2 CCGTGCAGGAGCAGAACACCA 0.597 NA 11 28 0 0 0 0 LOC81691 81691 broad.mit.edu 37 16 20856094 20856094 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:20856094C>G uc002dhv.2 + 17 2126 c.1863C>G c.(1861-1863)CTC>CTG p.L621L ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Silent_p.L590L|LOC81691_uc002dhw.2_Silent_p.L364L|LOC81691_uc002dhy.3_Silent_p.L621L NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 621 RRM 2. nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 AGCCCCGCCTCTTTCTTGGCC 0.428 NA 29 82 0 0 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258086 25258086 + Silent SNP G G A rs149172025 by1000genomes TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:25258086G>A uc002dod.3 - 5 1838 c.1431C>T c.(1429-1431)ATC>ATT p.I477I ZKSCAN2_uc010vcl.1_Silent_p.I273I|ZKSCAN2_uc002doe.2_Silent_p.I477I NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 477 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GGATAAATTCGATGCCTATTT 0.448 NA 28 92 0 0 0 0 SETD1A 9739 broad.mit.edu 37 16 30980949 30980949 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:30980949G>A uc002ead.1 + 12 3641 c.2955G>A c.(2953-2955)GAG>GAA p.E985E NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 985 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 AGGAAGATGAGGAAGATGAAG 0.507 NA 7 31 0 0 0 0 TAF1C 9013 broad.mit.edu 37 16 84217036 84217036 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:84217036C>T uc002fhn.2 - 4 526 c.298G>A c.(298-300)GTG>ATG p.V100M TAF1C_uc002fhm.2_Missense_Mutation_p.V33M|TAF1C_uc010vnx.1_Missense_Mutation_p.V100M|TAF1C_uc010vny.1_Translation_Start_Site|TAF1C_uc010vnz.1_Translation_Start_Site|TAF1C_uc002fho.2_Translation_Start_Site|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.V100M NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 100 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 ACATCCAGCACGACTCGGGGC 0.637 NA 8 16 0 0 0 0 GEMIN4 50628 broad.mit.edu 37 17 649755 649755 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:649755C>T uc002frs.1 - 2 1647 c.1528G>A c.(1528-1530)GGC>AGC p.G510S NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 510 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCAGAGAGGCCCTTTCGCCCC 0.527 NA 14 25 0 0 0 0 KIF1C 10749 broad.mit.edu 37 17 4926827 4926827 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:4926827C>T uc002gan.1 + 23 3019 c.2693C>T c.(2692-2694)GCA>GTA p.A898V NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 898 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GGATCAGAGGCAGCAGAGGAG 0.637 NA 11 35 0 0 0 0 ZNF594 84622 broad.mit.edu 37 17 5086056 5086056 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:5086056C>T uc010cla.1 - 2 1652 c.1496G>A c.(1495-1497)CGG>CAG p.R499Q NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 499 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 GAGTGAACGCCGCCTGAAGGC 0.478 NA 11 58 0 0 0 0 KRBA2 124751 broad.mit.edu 37 17 8273377 8273377 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:8273377C>T uc002glf.1 - 2 560 c.554G>A c.(553-555)CGG>CAG p.R185Q KRBA2_uc002glg.1_Missense_Mutation_p.R102Q NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 185 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 TACATAATACCGTATTCGATC 0.443 NA 47 127 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27423781 27423781 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr17:27423781C>T uc002hdt.1 - 28 4541 c.4383G>A c.(4381-4383)AGG>AGA p.R1461R MYO18A_uc010wbc.1_Silent_p.R1003R|MYO18A_uc002hds.2_Silent_p.R1003R|MYO18A_uc010csa.1_Silent_p.R1461R|MYO18A_uc002hdu.1_Silent_p.R1461R|MYO18A_uc010wbd.1_Silent_p.R1130R NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1461 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCACCCACCTCCTCTGCTTCT 0.627 NA 3 10 0 0 0 0 CETN1 1068 broad.mit.edu 37 18 580607 580607 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:580607G>C uc002kko.1 + 1 241 c.199G>C c.(199-201)GAA>CAA p.E67Q NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 67 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 ACCCAGGAAGGAAGAGATGAA 0.557 NA 10 34 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2732451 2732451 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:2732451A>G uc002klm.3 + 25 3426 c.3237A>G c.(3235-3237)AGA>AGG p.R1079R SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1079 chromosome organization ATP binding 0 AAGGAGAAAGAGAAATCAATA 0.289 NA 6 28 0 0 0 0 MIB1 57534 broad.mit.edu 37 18 19379870 19379870 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:19379870G>C uc002ktq.2 + 9 1306 c.1306G>C c.(1306-1308)GTT>CTT p.V436L MIB1_uc002ktp.2_Missense_Mutation_p.V75L NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 436 ANK 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) TGAAGAATTAGTTAAGGCTGC 0.328 NA 21 55 0 0 0 0 SMAD2 4087 broad.mit.edu 37 18 45394805 45394805 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:45394805G>A uc002lcy.2 - 5 792 c.544C>T c.(544-546)CGA>TGA p.R182* SMAD2_uc002lcz.2_Nonsense_Mutation_p.R182*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.R152*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.R152* NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 182 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 TCGGTGTGTCGGGGCACTAAT 0.438 NA 12 44 0 0 0 0 CD226 10666 broad.mit.edu 37 18 67563082 67563082 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:67563082T>A uc010dqo.2 - 3 1029 c.582A>T c.(580-582)CAA>CAT p.Q194H CD226_uc002lkm.3_Missense_Mutation_p.Q194H NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 194 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) TGCTCACTATTTGTCTTGGGA 0.542 NA 41 75 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72343009 72343009 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:72343009G>A uc002llw.2 + 1 91 c.34G>A c.(34-36)GAG>AAG p.E12K ZNF407_uc010xfc.1_Missense_Mutation_p.E12K|ZNF407_uc010dqu.1_Missense_Mutation_p.E12K|ZNF407_uc002llu.2_Missense_Mutation_p.E11K NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGAAAATGATGAGGATGAAAA 0.408 NA 7 18 0 0 0 0 NFATC1 4772 broad.mit.edu 37 18 77208983 77208983 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr18:77208983G>A uc010xfg.1 + 4 2041 c.1588G>A c.(1588-1590)GTC>ATC p.V530I NFATC1_uc002lnc.1_Missense_Mutation_p.V530I|NFATC1_uc010xff.1_Missense_Mutation_p.V530I|NFATC1_uc002lnd.2_Missense_Mutation_p.V530I|NFATC1_uc002lne.2_Missense_Mutation_p.V58I|NFATC1_uc010xfh.1_Missense_Mutation_p.V530I|NFATC1_uc010xfi.1_Missense_Mutation_p.V517I|NFATC1_uc010xfj.1_Missense_Mutation_p.V58I|NFATC1_uc002lnf.2_Missense_Mutation_p.V517I|NFATC1_uc002lng.2_Missense_Mutation_p.V517I|NFATC1_uc010xfk.1_Missense_Mutation_p.V517I NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 530 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CATGCGAGCCGTGTAAGCCGC 0.687 NA 8 27 0 0 0 0 FUT5 2527 broad.mit.edu 37 19 5867522 5867522 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:5867522G>A uc002mdo.3 - 2 303 c.215C>T c.(214-216)GCC>GTC p.A72V FUT5_uc010duo.2_Missense_Mutation_p.A72V NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 72 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 GGTGGGGTGGGCAGGGGTCGC 0.662 NA 15 51 0 0 0 0 ZNF440 126070 broad.mit.edu 37 19 11942501 11942501 + Silent SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:11942501A>G uc002msp.1 + 4 666 c.510A>G c.(508-510)AAA>AAG p.K170K NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGGAGAGAAACCCAATGCTT 0.413 NA 54 103 0 0 0 0 ZNF443 10224 broad.mit.edu 37 19 12541096 12541096 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:12541096G>A uc002mtu.2 - 4 2088 c.1890C>T c.(1888-1890)TCC>TCT p.S630S NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 630 C2H2-type 18. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 GTCTATGCAAGGAACTGAGAG 0.403 NA 22 96 0 0 0 0 EPS15L1 58513 broad.mit.edu 37 19 16552783 16552783 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:16552783C>T uc002ndz.1 - 3 91 c.85G>A c.(85-87)GCA>ACA p.A29T EPS15L1_uc002ndx.2_Missense_Mutation_p.A29T|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.A29T|EPS15L1_uc010eah.1_Missense_Mutation_p.A29T|EPS15L1_uc002nec.1_Missense_Mutation_p.A29T NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 29 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CCTGTGTATGCCGGATCGACC 0.512 NA OREG0025335 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 123 0 0 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378184 18378184 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:18378184G>A uc002nin.2 - 3 382 c.166C>T c.(166-168)CAC>TAC p.H56Y KIAA1683_uc010ebn.2_Missense_Mutation_p.H56Y|KIAA1683_uc010xqe.1_Missense_Mutation_p.H10Y NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 56 mitochondrion ovary(2) 2 AGGCCCTCGTGCTGGGGCTGT 0.657 NA 31 76 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22941426 22941426 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:22941426C>T uc010xrh.1 - 5 1012 c.1012G>A c.(1012-1014)GAA>AAA p.E338K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGCCACATTCTTCACATTTG 0.373 NA 13 47 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42546827 42546827 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:42546827C>T uc002osj.1 - 11 1385 c.1350G>A c.(1348-1350)ATG>ATA p.M450I GRIK5_uc002osi.1_Missense_Mutation_p.M22I|GRIK5_uc010eib.1_Missense_Mutation_p.M369I NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 450 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCTCCCGCAGCATGTCCACGC 0.677 NA 14 25 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570458 47570458 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:47570458C>T uc002pga.3 - 15 3105 c.3067G>A c.(3067-3069)GCC>ACC p.A1023T ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1023 nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CGCTGCCGGGCGTTGGGGGGC 0.706 NA 13 24 0 0 0 0 PTPRH 5794 broad.mit.edu 37 19 55711682 55711682 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:55711682C>T uc002qjq.2 - 7 1415 c.1342G>A c.(1342-1344)GGA>AGA p.G448R PTPRH_uc010esv.2_Missense_Mutation_p.G270R|PTPRH_uc002qjs.2_Missense_Mutation_p.G455R NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 448 Extracellular (Potential).|Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TACAAGGTTCCGGGCTCAAGT 0.522 NA 27 89 0 0 0 0 ZNF460 10794 broad.mit.edu 37 19 57803220 57803220 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr19:57803220G>T uc002qog.2 + 3 1633 c.1311G>T c.(1309-1311)AGG>AGT p.R437S ZNF460_uc010ygv.1_Missense_Mutation_p.R396S NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 437 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCTCACAAGGCACCAGTGGA 0.478 NA 17 48 2e-07 2.16e-07 1 0 RBKS 64080 broad.mit.edu 37 2 28081341 28081341 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:28081341C>A uc002rlo.1 - 2 198 c.187G>T c.(187-189)GCT>TCT p.A63S RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.1_Missense_Mutation_p.A63S NM_022128 NP_071411 Q9H477 RBSK_HUMAN ribokinase 63 D-ribose metabolic process ATP binding|ribokinase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) CCAAGCCGAGCAGCTTGGACA 0.438 NA 18 56 5.01e-05 5.23e-05 1 0 LTBP1 4052 broad.mit.edu 37 2 33540271 33540271 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:33540271A>G uc002ros.2 + 24 3668 c.3668A>G c.(3667-3669)GAG>GGG p.E1223G LTBP1_uc002rot.2_Missense_Mutation_p.E897G|LTBP1_uc002rou.2_Missense_Mutation_p.E896G|LTBP1_uc002rov.2_Missense_Mutation_p.E843G|LTBP1_uc010ymz.1_Missense_Mutation_p.E896G|LTBP1_uc010yna.1_Missense_Mutation_p.E843G|LTBP1_uc010ynb.1_Missense_Mutation_p.E162G NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1222 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTAAACACAGAGGGTTCTTTC 0.408 NA 11 44 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116503737 116503737 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:116503737C>T uc002tla.1 + 10 1385 c.928C>T c.(928-930)CCA>TCA p.P310S DPP10_uc002tlb.1_Missense_Mutation_p.P260S|DPP10_uc002tlc.1_Missense_Mutation_p.P306S|DPP10_uc002tle.2_Missense_Mutation_p.P314S|DPP10_uc002tlf.1_Missense_Mutation_p.P303S NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 310 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GGAGCTCATGCCACCTGACAG 0.343 NA 3 40 0 0 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913112 143913112 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:143913112G>A uc002tvm.3 + 2 204 c.53G>A c.(52-54)CGC>CAC p.R18H ARHGAP15_uc010zbl.1_Missense_Mutation_p.R18H NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 18 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) AATTCTACCCGCCAAGGCACA 0.398 NA 9 23 0 0 0 0 SLC4A10 57282 broad.mit.edu 37 2 162696359 162696359 + Missense_Mutation SNP T T A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:162696359T>A uc002ubx.3 + 4 522 c.338T>A c.(337-339)ATT>AAT p.I113N SLC4A10_uc010fpa.1_Missense_Mutation_p.I125N|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.I113N|SLC4A10_uc010zcs.1_Missense_Mutation_p.I124N NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 113 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GAGGAACACATTCCTCATGAC 0.438 NA 19 57 0 0 0 0 OSBPL6 114880 broad.mit.edu 37 2 179197685 179197685 + Nonsense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:179197685A>T uc002ulx.2 + 8 952 c.574A>T c.(574-576)AGA>TGA p.R192* OSBPL6_uc002ulw.2_Nonsense_Mutation_p.R192*|OSBPL6_uc002uly.2_Nonsense_Mutation_p.R192*|OSBPL6_uc010zfe.1_Nonsense_Mutation_p.R192*|OSBPL6_uc002ulz.2_Nonsense_Mutation_p.R192*|OSBPL6_uc002uma.2_Nonsense_Mutation_p.R171* NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 192 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GAGATCACCAAGAGATGCTAG 0.413 NA 25 71 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179473617 179473617 + Missense_Mutation SNP A A T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:179473617A>T uc010zfg.1 - 223 44641 c.44417T>A c.(44416-44418)ATC>AAC p.I14806N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8501N|TTN_uc010zfi.1_Missense_Mutation_p.I8434N|TTN_uc010zfj.1_Missense_Mutation_p.I8309N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15733 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) TACAAAGTTGATTGGTGGTCC 0.388 NA 31 116 0 0 0 0 MARS2 92935 broad.mit.edu 37 2 198571571 198571571 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:198571571G>A uc002uuq.2 + 1 1485 c.1442G>A c.(1441-1443)CGG>CAG p.R481Q uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 481 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) AGCTGTGTCCGGCAAACTAAT 0.542 NA 32 104 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212295727 212295727 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:212295727A>C uc002veg.1 - 21 2684 c.2586T>G c.(2584-2586)TTT>TTG p.F862L ERBB4_uc002veh.1_Missense_Mutation_p.F862L|ERBB4_uc010zji.1_Missense_Mutation_p.F852L|ERBB4_uc010zjj.1_Missense_Mutation_p.F852L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 862 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGGCTAGCCCAAAATCTGTGA 0.418 NA TSP Lung(8;0.080) 3 104 0 0 0 0 ABCB6 10058 broad.mit.edu 37 2 220080750 220080750 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:220080750G>A uc002vkc.1 - 5 1400 c.1123C>T c.(1123-1125)CGG>TGG p.R375W ABCB6_uc010fwe.1_Missense_Mutation_p.R329W|ABCB6_uc010zku.1_Intron NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 375 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATGTGCCCCGATCCGCGATC 0.687 NA 4 16 0 0 0 0 KCNE4 23704 broad.mit.edu 37 2 223917672 223917672 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:223917672G>T uc002vnl.3 + 2 278 c.124G>T c.(124-126)GTC>TTC p.V42F NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 42 Helical; (Potential). integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CATTCTGGTTGTCATGTCCTT 0.597 NA 24 82 2.98e-07 3.22e-07 1 0 SERPINE2 5270 broad.mit.edu 37 2 224866605 224866605 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:224866605G>A uc002vnu.2 - 2 256 c.13C>T c.(13-15)CTC>TTC p.L5F SERPINE2_uc002vnt.2_Missense_Mutation_p.L5F|SERPINE2_uc010zlr.1_Missense_Mutation_p.L17F|SERPINE2_uc002vnv.2_Missense_Mutation_p.L5F NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 5 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAGAGGGGGAGATGCCAGTTC 0.443 NA 33 66 0 0 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262638 232262638 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:232262638G>T uc002vrs.2 + 2 388 c.208G>T c.(208-210)GCG>TCG p.A70S NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 70 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AGATGTGGCTGCGCCCACGCC 0.617 NA 10 35 2.18e-05 2.29e-05 1 0 SIRPB2 284759 broad.mit.edu 37 20 1456848 1456848 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:1456848G>T uc002wfg.2 - 5 1221 c.993C>A c.(991-993)GCC>GCA p.A331A SIRPB2_uc002wfh.3_Silent_p.A233A NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 331 Cytoplasmic (Potential). integral to membrane 0 AGGTGTTCATGGCTCCTGCTG 0.592 NA 36 109 3.21e-22 3.69e-22 1 0 SNAP25 6616 broad.mit.edu 37 20 10256162 10256162 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:10256162G>A uc002wnq.1 + 2 235 c.23G>A c.(22-24)CGC>CAC p.R8H SNAP25_uc002wnr.1_Missense_Mutation_p.R8H|SNAP25_uc002wns.1_5'UTR|SNAP25_uc010gca.1_Missense_Mutation_p.R8H|SNAP25_uc010gcb.1_5'UTR|SNAP25_uc010gcc.1_5'UTR NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 8 Interaction with CENPF (By similarity). energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) GCAGACATGCGCAATGAGCTG 0.602 NA 7 25 0 0 0 0 DNMT3B 1789 broad.mit.edu 37 20 31395666 31395666 + Missense_Mutation SNP G G A rs121908946 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr20:31395666G>A uc002wyc.2 + 23 2840 c.2519G>A c.(2518-2520)CGA>CAA p.R840Q DNMT3B_uc002wyd.2_Missense_Mutation_p.R820Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R757Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R715Q|DNMT3B_uc010zua.1_Missense_Mutation_p.R681Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.R832Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.R476Q|DNMT3B_uc010geg.2_Silent_p.P99P|DNMT3B_uc010geh.2_RNA NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 840 R -> Q (in ICF). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 CCTGTCATCCGACACCTCTTC 0.602 NA 35 106 0 0 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000227 46000228 + Missense_Mutation DNP CC CC TT TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr21:46000227_46000228CC>TT uc002zfl.1 - 1 254_255 c.228_229GG>AA c.(226-231)CCGGCT>CCAACT p.A77T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 77 3.|22 X 5 AA repeats of C-C-X(3). keratin filament 0 gcgcagcaagccggctggcagc 0.292 NA 4 72 0 0 0 0 RTDR1 27156 broad.mit.edu 37 22 23401824 23401824 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:23401824G>A uc002zwt.2 - 7 1021 c.863C>T c.(862-864)GCG>GTG p.A288V NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 288 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) ATTCAGGCGCGCTATGGTCAT 0.657 NA 16 119 0 0 0 0 LIMK2 3985 broad.mit.edu 37 22 31655979 31655979 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:31655979C>T uc003akh.2 + 5 612 c.467C>T c.(466-468)CCG>CTG p.P156L LIMK2_uc003akg.2_Missense_Mutation_p.P73L|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.P135L|LIMK2_uc003akk.2_Missense_Mutation_p.P135L|LIMK2_uc011aln.1_Missense_Mutation_p.P73L NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 156 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 ATCTCCATGCCGGCCACCACT 0.557 NA 4 77 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41566460 41566460 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr22:41566460A>G uc003azl.3 + 27 4732 c.4337A>G c.(4336-4338)TAT>TGT p.Y1446C NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1446 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGAGATGATTATATCTTCCAT 0.408 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 52 72 0 0 0 0 TRIM71 131405 broad.mit.edu 37 3 32931915 32931915 + Missense_Mutation SNP A A C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:32931915A>C uc003cff.2 + 4 1282 c.1219A>C c.(1219-1221)AAC>CAC p.N407H NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 407 Potential. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 GCTGCGGCAAAACCTCAACAA 0.567 NA 27 83 0 0 0 0 SUSD5 26032 broad.mit.edu 37 3 33255548 33255548 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:33255548C>T uc003cfo.1 - 2 580 c.162G>A c.(160-162)CTG>CTA p.L54L NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 54 Extracellular (Potential).|Link. cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 GAGCAGCCTCCAGTTGTAGGC 0.547 NA 5 28 0 0 0 0 SETD2 29072 broad.mit.edu 37 3 47163558 47163558 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:47163558G>A uc003cqs.2 - 3 2621 c.2568C>T c.(2566-2568)ATC>ATT p.I856I SETD2_uc003cqv.2_Silent_p.I845I NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 856 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TAGTGCTACCGATGCTCTGCT 0.358 NA N|F|S|Mis clear cell renal carcinoma 13 42 0 0 0 0 ATRIP 84126 broad.mit.edu 37 3 48501802 48501802 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:48501802C>T uc003ctf.1 + 8 1381 c.1349C>T c.(1348-1350)CCG>CTG p.P450L ATRIP_uc011bbj.1_Missense_Mutation_p.P323L|ATRIP_uc003ctg.1_Missense_Mutation_p.P450L|TREX1_uc010hjy.2_5'UTR NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 450 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGACTCACCGACACATTCC 0.562 NA Other_conserved_DNA_damage_response_genes 15 59 0 0 0 0 OR5H6 79295 broad.mit.edu 37 3 97983874 97983874 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:97983874G>A uc003dsi.1 + 1 746 c.746G>A c.(745-747)GGG>GAG p.G249E NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 249 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G249G(1) skin(2)|large_intestine(1) 3 TCTATCAAAGGGATACGAAAA 0.383 NA 7 39 0 0 0 0 OR5H2 79310 broad.mit.edu 37 3 98001947 98001947 + Silent SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:98001947C>G uc003dsj.1 + 1 216 c.216C>G c.(214-216)GCC>GCG p.A72A NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 GGAGTTTAGCCTTTGTTGATG 0.393 NA 50 210 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:178916876G>A uc003fjk.2 + 2 420 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363 R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 16 62 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:178952072A>G uc003fjk.2 + 21 3284 c.3127A>G c.(3127-3129)ATG>GTG p.M1043V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(31)|p.M1043V(15)|p.M1043T(3) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 14 42 0 0 0 0 VPS8 23355 broad.mit.edu 37 3 184714191 184714191 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:184714191G>T uc003fpb.1 + 43 3903 c.3732G>T c.(3730-3732)TCG>TCT p.S1244S VPS8_uc010hyd.1_Silent_p.S1154S|VPS8_uc010hye.1_Silent_p.S673S NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1246 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGAGAGCTTCGGTCACCAGAG 0.413 NA 21 32 1.96e-10 2.16e-10 1 0 LPP 4026 broad.mit.edu 37 3 188242516 188242516 + Silent SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:188242516T>C uc003frs.1 + 5 616 c.370T>C c.(370-372)TTG>CTG p.L124L LPP_uc011bsg.1_Silent_p.L124L|LPP_uc011bsi.1_Silent_p.L124L|LPP_uc003frt.2_Silent_p.L124L NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 124 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GATTGACTCCTTGACCAGCAT 0.547 NA T HMGA2|MLL|C12orf9 lipoma|leukemia 42 100 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194061983 194061983 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr3:194061983G>A uc003fts.2 - 2 1539 c.1449C>T c.(1447-1449)TAC>TAT p.Y483Y NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 483 protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CGGGGTTGCTGTAGGTGCACT 0.662 NA 19 37 0 0 0 0 DHX15 1665 broad.mit.edu 37 4 24550530 24550530 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:24550530C>T uc003gqx.2 - 6 1364 c.1196G>A c.(1195-1197)CGC>CAC p.R399H NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 399 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) CTCAAAAATGCGTTGCTGCTG 0.363 NA 11 37 0 0 0 0 WDR19 57728 broad.mit.edu 37 4 39217514 39217514 + Missense_Mutation SNP C C G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:39217514C>G uc003gtv.2 + 11 1169 c.1015C>G c.(1015-1017)CAA>GAA p.Q339E WDR19_uc010ifl.1_Missense_Mutation_p.Q156E|WDR19_uc003gtu.1_Missense_Mutation_p.Q339E|WDR19_uc011byi.1_Missense_Mutation_p.Q179E|WDR19_uc003gtw.1_5'UTR NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 339 WD 6. cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 ACTCTCTACCCAAAGGGGCTC 0.448 NA 20 56 0 0 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141026 55141026 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:55141026C>T uc003han.3 + 12 2003 c.1672C>T c.(1672-1674)CGC>TGC p.R558C PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R452C|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 558 Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTATGAAATTCGCTGGAGGGT 0.463 NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 22 50 0 0 0 0 ALB 213 broad.mit.edu 37 4 74284002 74284002 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:74284002G>A uc003hgs.3 + 12 1699 c.1626G>A c.(1624-1626)GAG>GAA p.E542E ALB_uc003hgw.3_Silent_p.E350E|ALB_uc011cbe.1_Silent_p.E221E|ALB_uc003hgt.3_Silent_p.E542E|ALB_uc010iii.2_Silent_p.E427E|ALB_uc003hgu.3_Silent_p.E392E|ALB_uc003hgv.3_Silent_p.E221E|ALB_uc011cbf.1_Silent_p.E432E|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Silent_p.E221E NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 542 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CACTTTCTGAGAAGGAGAGAC 0.388 NA 12 51 0 0 0 0 HELQ 113510 broad.mit.edu 37 4 84368164 84368164 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:84368164T>C uc003hom.2 - 4 1395 c.1216A>G c.(1216-1218)ATA>GTA p.I406V HELQ_uc010ikb.2_Intron|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 406 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 CCGAGTTCTATACCAAAACTT 0.239 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 9 25 0 0 0 0 BDH2 56898 broad.mit.edu 37 4 104017355 104017355 + Silent SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:104017355G>C uc003hwz.2 - 2 162 c.57C>G c.(55-57)GGC>GGG p.G19G BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 19 NAD. fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) CAGCTGCTTGGCCAATCCCCT 0.423 NA 11 24 0 0 0 0 INPP4B 8821 broad.mit.edu 37 4 143003331 143003331 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr4:143003331C>A uc003iix.3 - 26 3090 c.2495G>T c.(2494-2496)CGC>CTC p.R832L INPP4B_uc003iiw.3_Missense_Mutation_p.R832L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.R647L|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 832 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) ATTCAGTTTGCGGCAAATCTG 0.403 NA 11 45 0.00136819 0.00141975 1 0 IRX2 153572 broad.mit.edu 37 5 2748625 2748625 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:2748625G>A uc003jda.2 - 3 1439 c.1197C>T c.(1195-1197)AAC>AAT p.N399N IRX2_uc003jdb.2_Silent_p.N399N NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 399 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GCAGCGCCGCGTTCAAGTTCC 0.711 NA 21 67 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13839478 13839478 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:13839478G>A uc003jfd.2 - 35 5911 c.5869C>T c.(5869-5871)CCA>TCA p.P1957S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1957 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCTGTAAGTGGAGTTATTACA 0.418 NA Kartagener_syndrome 29 104 0 0 0 0 CCDC125 202243 broad.mit.edu 37 5 68603840 68603840 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:68603840C>T uc003jvv.1 - 4 512 c.469G>A c.(469-471)GCC>ACC p.A157T CCDC125_uc003jvx.1_Missense_Mutation_p.A156T|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Missense_Mutation_p.A32T|CCDC125_uc003jvz.1_3'UTR NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 157 Potential. cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TGACTTGTGGCTTTGCCCAGT 0.343 NA 49 45 0 0 0 0 NUDT12 83594 broad.mit.edu 37 5 102895788 102895788 + Silent SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:102895788T>G uc003koi.2 - 2 255 c.162A>C c.(160-162)GCA>GCC p.A54A NUDT12_uc011cvb.1_Intron|NUDT12_uc010jbq.1_Silent_p.A54A NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 54 ANK 2. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GCCCATTCCTTGCCGCATACA 0.408 NA 14 106 0 0 0 0 CXXC5 51523 broad.mit.edu 37 5 139060923 139060923 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:139060923G>A uc010jfg.1 + 2 1105 c.815G>A c.(814-816)CGC>CAC p.R272H CXXC5_uc003let.2_Missense_Mutation_p.R272H NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN CXXC finger 5 272 CXXC-type. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGGCGGCGCATCAACTGC 0.572 NA 81 112 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215783 140215783 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140215783G>T uc003lhq.2 + 1 1815 c.1815G>T c.(1813-1815)GCG>GCT p.A605A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A605A NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 605 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACAACGCGTGGCTTTCGT 0.637 NA 31 83 5.6e-13 6.31e-13 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256301 140256301 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140256301G>A uc003lic.2 + 1 1371 c.1244G>A c.(1243-1245)CGC>CAC p.R415H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R415H NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 415 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGGACCGCGAGAGCGTG 0.612 NA 57 223 0 0 0 0 SGCD 6444 broad.mit.edu 37 5 156186283 156186283 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:156186283C>T uc003lwd.3 + 8 1228 c.752C>T c.(751-753)ACG>ATG p.T251M SGCD_uc003lwc.3_Missense_Mutation_p.T252M NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 251 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGATCCTACACGCCTACAGGA 0.498 NA 20 106 0 0 0 0 STK10 6793 broad.mit.edu 37 5 171520586 171520586 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171520586C>T uc003mbo.1 - 9 1684 c.1384G>A c.(1384-1386)GGG>AGG p.G462R NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 462 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCTTCTCCCCACCCAAGGTC 0.652 NA 23 96 0 0 0 0 STK10 6793 broad.mit.edu 37 5 171534817 171534817 + Missense_Mutation SNP T T C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171534817T>C uc003mbo.1 - 5 860 c.560A>G c.(559-561)CAG>CGG p.Q187R NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 187 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCTCGTTTCTGTAGAGTCTT 0.498 NA OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 54 0 0 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171774317 171774317 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:171774317C>T uc003mbr.2 - 11 1203 c.1032G>A c.(1030-1032)CAG>CAA p.Q344Q NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 344 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGGGGGTCTCTGCCTCATCT 0.542 NA 11 79 0 0 0 0 GPX6 257202 broad.mit.edu 37 6 28473490 28473490 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:28473490G>T uc011dlj.1 - 5 499 c.449C>A c.(448-450)ACT>AAT p.T150N GPX6_uc010jrg.1_Intron NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 150 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) CTTCAGGAAAGTAAAGACCTT 0.473 NA 15 72 6.32e-08 6.87e-08 1 0 TAP2 6891 broad.mit.edu 37 6 32782192 32782192 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:32782192G>A uc011dqf.1 - 14 2491 c.2369C>T c.(2368-2370)ACT>ATT p.T790I HLA-DOB_uc003oca.2_Missense_Mutation_p.T183I|HLA-DOB_uc011dqg.1_Missense_Mutation_p.T183I NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CATCACCACAGTCTGAAAGGT 0.532 NA 33 88 0 0 0 0 GRM4 2914 broad.mit.edu 37 6 34029792 34029792 + Silent SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:34029792G>T uc003oir.3 - 3 920 c.750C>A c.(748-750)ATC>ATA p.I250I GRM4_uc011dsn.1_Silent_p.I250I|GRM4_uc010jvh.2_Silent_p.I250I|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.I110I|GRM4_uc003oiq.2_Silent_p.I117I|GRM4_uc011dsm.1_Silent_p.I81I NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 250 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CCGACTGGGCGATGCACACGC 0.627 NA 26 28 1.66e-10 1.83e-10 1 0 PAQR8 85315 broad.mit.edu 37 6 52268776 52268776 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:52268776C>T uc003pao.3 + 2 939 c.765C>T c.(763-765)TTC>TTT p.F255F NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 255 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) TCCTCTTCTTCCTGGTTAGCG 0.577 NA 14 55 0 0 0 0 FAM83B 222584 broad.mit.edu 37 6 54735396 54735396 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:54735396G>A uc003pck.2 + 2 468 c.352G>A c.(352-354)GGC>AGC p.G118S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 118 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ACTCTTAGGGGGCACCCATAT 0.433 NA 32 93 0 0 0 0 EPHA7 2045 broad.mit.edu 37 6 94068069 94068069 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:94068069G>T uc003poe.2 - 4 1134 c.893C>A c.(892-894)ACT>AAT p.T298N EPHA7_uc003pof.2_Missense_Mutation_p.T298N|EPHA7_uc011eac.1_Missense_Mutation_p.T298N NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 298 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AAAACTGTGAGTTGGACAACG 0.473 NA 10 66 2.18e-05 2.29e-05 1 0 SIM1 6492 broad.mit.edu 37 6 100841635 100841635 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:100841635G>A uc003pqj.3 - 10 1505 c.1298C>T c.(1297-1299)TCG>TTG p.S433L SIM1_uc010kcu.2_Missense_Mutation_p.S433L NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 433 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTAGGCGCACGATGCGTCGTG 0.617 NA 13 59 0 0 0 0 LIN28B 389421 broad.mit.edu 37 6 105406144 105406144 + Missense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:105406144G>A uc003pqv.1 + 2 384 c.181G>A c.(181-183)GAT>AAT p.D61N LIN28B_uc010kda.1_Missense_Mutation_p.D21N NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 61 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TATTCCAGTCGATGTATTTGT 0.458 NA 39 114 0 0 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107019900 107019900 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:107019900G>A uc003prj.2 - 9 1639 c.1162C>T c.(1162-1164)CGA>TGA p.R388* RTN4IP1_uc010kdd.2_3'UTR|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.R288* NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 388 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GTCTTTCCTCGTGCGTGTCCT 0.383 NA 21 94 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119341157 119341157 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:119341157G>T uc003pyj.2 - 4 1666 c.1318C>A c.(1318-1320)CTA>ATA p.L440I FAM184A_uc003pyk.3_Missense_Mutation_p.L320I|FAM184A_uc003pyl.3_Missense_Mutation_p.L320I NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 440 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TCCAGTTCTAGAATCTGTTGC 0.388 NA 25 58 3.65e-15 4.12e-15 1 0 C6orf170 221322 broad.mit.edu 37 6 121600349 121600349 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:121600349C>A uc003pyo.1 - 15 1719 c.1651G>T c.(1651-1653)GGT>TGT p.G551C C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.G70C NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 551 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GCCAAAATACCAGCTATATGA 0.323 NA 18 72 1.03e-11 1.15e-11 1 0 PBOV1 59351 broad.mit.edu 37 6 138539373 138539373 + Nonsense_Mutation SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr6:138539373G>A uc003qhv.2 - 1 255 c.160C>T c.(160-162)CGA>TGA p.R54* KIAA1244_uc003qhu.2_Intron NM_021635 NP_067648 Q9GZY1 PBOV1_HUMAN prostate and breast cancer overexpressed 1 54 cytoplasm|nucleus 0 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674) TCTTTTTTTCGAAATACCTtg 0.194 NA 10 33 0 0 0 0 CARD11 84433 broad.mit.edu 37 7 2946386 2946386 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:2946386G>A uc003smv.2 - 25 3755 c.3351C>T c.(3349-3351)TAC>TAT p.Y1117Y NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1117 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCACCGTGGCGTACAGGCACG 0.647 NA Mis DLBCL 9 30 0 0 0 0 GCK 2645 broad.mit.edu 37 7 44187277 44187277 + Missense_Mutation SNP C C T rs104894005 byFrequency TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:44187277C>T uc003tkl.2 - 7 1305 c.835G>A c.(835-837)GAG>AAG p.E279K GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.E278K|GCK_uc003tkk.1_Missense_Mutation_p.E280K NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 279 E -> Q (in MODY2). cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 GCAGAGCTCTCGTCCACCAGG 0.692 NA 23 62 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94897863 94897863 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:94897863C>A uc003unp.2 + 12 2883 c.2601C>A c.(2599-2601)GAC>GAA p.D867E PPP1R9A_uc010lfj.2_Missense_Mutation_p.D889E|PPP1R9A_uc011kif.1_Missense_Mutation_p.D867E|PPP1R9A_uc003unq.2_Missense_Mutation_p.D867E|PPP1R9A_uc011kig.1_Missense_Mutation_p.D867E|PPP1R9A_uc003unr.2_5'UTR NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 867 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TATTCTTAGACTTGAATGAAG 0.443 NA HNSCC(28;0.073) 25 48 1.43e-11 1.58e-11 1 0 RELN 5649 broad.mit.edu 37 7 103270590 103270590 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:103270590C>T uc003vca.2 - 20 2659 c.2499G>A c.(2497-2499)AAG>AAA p.K833K RELN_uc010liz.2_Silent_p.K833K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 833 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCCAAACTGCTTTGCATCAC 0.343 NA 16 80 0 0 0 0 PUS7 54517 broad.mit.edu 37 7 105099648 105099648 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:105099648G>A uc003vcx.2 - 15 2035 c.1816C>T c.(1816-1818)CTA>TTA p.L606L PUS7_uc010lji.2_Silent_p.L612L|PUS7_uc003vcy.2_Silent_p.L606L|PUS7_uc003vcz.1_Silent_p.L606L NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 606 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 TTCCCTTCTAGGTTGTCCACA 0.348 NA 14 41 0 0 0 0 CADPS2 93664 broad.mit.edu 37 7 122111562 122111562 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:122111562C>T uc010lkp.2 - 13 2216 c.2053G>A c.(2053-2055)GGT>AGT p.G685S CADPS2_uc011knx.1_Missense_Mutation_p.G56S|CADPS2_uc003vkg.3_Missense_Mutation_p.G382S|CADPS2_uc010lkq.2_Missense_Mutation_p.G682S NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 685 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CCTCTCACACCATAACGGGCA 0.418 NA 3 10 0 0 0 0 IMPDH1 3614 broad.mit.edu 37 7 128038619 128038619 + Missense_Mutation SNP G G T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:128038619G>T uc011kol.1 - 7 774 c.668C>A c.(667-669)GCC>GAC p.A223D IMPDH1_uc011kom.1_Missense_Mutation_p.A218D|IMPDH1_uc003vmt.2_Missense_Mutation_p.A198D|IMPDH1_uc003vmu.2_Missense_Mutation_p.A308D|IMPDH1_uc003vmw.2_Missense_Mutation_p.A298D|IMPDH1_uc011kon.1_Missense_Mutation_p.A275D|IMPDH1_uc003vmv.2_Missense_Mutation_p.A272D|IMPDH1_uc003vmx.2_Missense_Mutation_p.A231D|IMPDH1_uc003vmy.2_Missense_Mutation_p.A239D NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 223 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GTCGGTGCGGGCGATGATGGC 0.577 NA OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 111 1.07e-15 1.21e-15 1 0 CSMD1 64478 broad.mit.edu 37 8 2966226 2966226 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:2966226C>T uc011kwk.1 - 44 7046 c.6656G>A c.(6655-6657)GGC>GAC p.G2219D CSMD1_uc011kwj.1_Missense_Mutation_p.G1611D|CSMD1_uc010lrg.2_Missense_Mutation_p.G287D NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2219 Extracellular (Potential).|CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCTGTGTTGCCACTGAAAAC 0.498 NA 5 12 0 0 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749414 8749414 + Silent SNP G G A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:8749414G>A uc003wsj.1 - 1 1718 c.1155C>T c.(1153-1155)TGC>TGT p.C385C NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 385 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCCCCTTCATGCAGACCTCGT 0.617 NA 22 19 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103281237 103281237 + Nonsense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:103281237C>A uc003ykr.1 - 51 7363 c.7330G>T c.(7330-7332)GAG>TAG p.E2444* UBR5_uc003yks.1_Nonsense_Mutation_p.E2444*|UBR5_uc003ykq.2_5'Flank NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2444 PABC. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCCATGGCCTCATCCACTCTT 0.443 NA 27 117 3.73e-12 4.17e-12 1 0 ZNF572 137209 broad.mit.edu 37 8 125989237 125989237 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:125989237C>A uc003yrr.2 + 3 882 c.727C>A c.(727-729)CCA>ACA p.P243T NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGGTGAAAAACCATATGAATG 0.453 NA HNSCC(60;0.17) 22 90 1.26e-06 1.35e-06 1 0 ASAP1 50807 broad.mit.edu 37 8 131130412 131130412 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:131130412T>G uc003yta.1 - 19 1903 c.1875A>C c.(1873-1875)CAA>CAC p.Q625H ASAP1_uc003ysz.1_Missense_Mutation_p.Q436H|ASAP1_uc011liw.1_Missense_Mutation_p.Q618H NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 625 ANK 1. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GATACCAGTTTTGTACAAGGA 0.388 NA 34 42 0 0 0 0 GPAA1 8733 broad.mit.edu 37 8 145139718 145139718 + Silent SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr8:145139718C>T uc003zax.2 + 8 1214 c.1104C>T c.(1102-1104)TTC>TTT p.F368F GPAA1_uc003zav.1_Silent_p.F246F|GPAA1_uc003zaw.1_Silent_p.F308F NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 368 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCCCGCTTCGTCTCCATCG 0.607 NA 83 93 0 0 0 0 IFNA21 3452 broad.mit.edu 37 9 21166295 21166295 + Missense_Mutation SNP T T G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr9:21166295T>G uc003zom.2 - 1 365 c.317A>C c.(316-318)GAA>GCA p.E106A NM_002175 NP_002166 P01568 IFN21_HUMAN interferon, alpha 21 precursor 106 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAAAATTTTTCTAGGAGGCT 0.498 NA 45 178 0 0 0 0 GOLGA1 2800 broad.mit.edu 37 9 127650555 127650556 + Nonsense_Mutation DNP GC GC AA TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr9:127650555_127650556GC>AA uc004bpc.2 - 19 2223_2224 c.1881_1882GC>TT c.(1879-1884)GAGCAG>GATTAG p.627_628EQ>D* GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 627_628 Potential. Golgi cisterna membrane ovary(1) 1 AGAAGTTGCTGCTCCAAGTCCT 0.515 NA 42 251 0 0 0 0 TEX13A 56157 broad.mit.edu 37 X 104464900 104464900 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:104464900C>T uc004ema.2 - 2 294 c.182G>A c.(181-183)AGT>AAT p.S61N IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.S61N NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 61 intracellular zinc ion binding ovary(2) 2 TTTGACCTCACTGGGCACCTC 0.592 NA 15 20 0 0 0 0 TRPC5 7224 broad.mit.edu 37 X 111195420 111195420 + Missense_Mutation SNP C C A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:111195420C>A uc004epl.1 - 2 1148 c.229G>T c.(229-231)GCC>TCC p.A77S TRPC5_uc004epm.1_Missense_Mutation_p.A77S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 77 ANK 2.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TTCTCAATGGCAATGAGCAGG 0.527 NA 26 39 2.85e-18 3.25e-18 1 0 ADAM30 11085 broad.mit.edu 37 1 120436723 120436723 + Frame_Shift_Del DEL G G - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:120436723delG uc001eij.2 - 1 2391 c.2237delC c.(2236-2238)ACAfs p.T746fs NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 746 2.|5 X 9 AA approximate repeats.|Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TCCAGTTTTTGTTTTAGATTC 0.353 NA 7 304 --- --- --- --- NA NA NA NA CACNA1S 779 broad.mit.edu 37 1 201042688 201042688 + Frame_Shift_Del DEL T T - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr1:201042688delT uc001gvv.2 - 15 2373 c.2146delA c.(2146-2148)ACCfs p.T716fs NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 716 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTGGCAGTGGTGGGGATGCCC 0.552 NA 7 608 --- --- --- --- NA NA NA NA CAMKK2 10645 broad.mit.edu 37 12 121682412 121682412 + Frame_Shift_Del DEL T T - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr12:121682412delT uc001tzu.2 - 16 1684 c.1560delA c.(1558-1560)AAAfs p.K520fs CAMKK2_uc001tzt.2_Intron|CAMKK2_uc001tzv.2_Frame_Shift_Del_p.K520fs|CAMKK2_uc001tzw.2_Frame_Shift_Del_p.K477fs|CAMKK2_uc001tzx.2_Intron|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Frame_Shift_Del_p.K307fs|CAMKK2_uc001uaa.1_Frame_Shift_Del_p.K520fs|CAMKK2_uc001uab.2_Frame_Shift_Del_p.K520fs|CAMKK2_uc001uac.2_Frame_Shift_Del_p.K477fs NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 520 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTGGTTGGTTTTTTGCTGG 0.627 NA 2 4 --- --- --- --- NA NA NA NA ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr13:100635008_100635010delCCA uc001von.2 + 1 690_692 c.690_692delCCA c.(688-693)GCCCAC>GCC p.H239del NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 239 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His. Missing.|H -> HH. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.522 NA 7 63 --- --- --- --- NA NA NA NA RFX7 64864 broad.mit.edu 37 15 56387585 56387586 + Frame_Shift_Ins INS - - A TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr15:56387585_56387586insA uc010bfn.2 - 9 2340_2341 c.2340_2341insT c.(2338-2343)AATGGAfs p.N780fs RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Ins_p.N594fs NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 683_684 regulation of transcription, DNA-dependent nucleus DNA binding 0 TGTTGCCATCCATTTGGATTAA 0.371 NA 28 81 --- --- --- --- NA NA NA NA MBTPS1 8720 broad.mit.edu 37 16 84115471 84115472 + Frame_Shift_Ins INS - - T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr16:84115471_84115472insT uc002fhi.2 - 11 1830_1831 c.1328_1329insA c.(1327-1329)AAGfs p.K443fs NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 443 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TCAGGGCCTGCTTCATACTGGC 0.525 NA 21 49 --- --- --- --- NA NA NA NA XDH 7498 broad.mit.edu 37 2 31562418 31562418 + Frame_Shift_Del DEL G G - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr2:31562418delG uc002rnv.1 - 34 3790 c.3711delC c.(3709-3711)CCCfs p.P1237fs NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1237 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGAACTCAATGGGGATGCTGC 0.577 NA 46 164 --- --- --- --- NA NA NA NA PCDHGA9 56107 broad.mit.edu 37 5 140783917 140783918 + Frame_Shift_Del DEL CA CA - TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr5:140783917_140783918delCA uc003lkh.1 + 1 1398_1399 c.1398_1399delCA c.(1396-1401)GCCAGAfs p.A466fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Frame_Shift_Del_p.A466fs NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 466_467 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAACAACGCCAGAGGTACTTC 0.47 NA 17 110 --- --- --- --- NA NA NA NA CCDC136 64753 broad.mit.edu 37 7 128454860 128454861 + Frame_Shift_Ins INS - - C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chr7:128454860_128454861insC uc003vnv.1 + 15 3299_3300 c.2932_2933insC c.(2932-2934)GCCfs p.A978fs CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Frame_Shift_Ins_p.A794fs|CCDC136_uc010llq.1_Frame_Shift_Ins_p.A347fs|CCDC136_uc003vny.1_Intron NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 978 integral to membrane protein binding ovary(2) 2 TGTCAAAGAAGCCCGGGGGAAG 0.54 NA 6 13 --- --- --- --- NA NA NA NA HUWE1 10075 broad.mit.edu 37 X 53587364 53587365 + Frame_Shift_Ins INS - - G TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c087e87f-867c-45dd-8645-5ab774e4827c 98949b5b-2be7-4de5-946a-3b2e3c630415 g.chrX:53587364_53587365insG uc004dsp.2 - 56 7922_7923 c.7520_7521insC c.(7519-7521)CCAfs p.P2507fs HUWE1_uc004dsn.2_Frame_Shift_Ins_p.P1331fs NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2507 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TTCCTGGGGATGGGGGGATGTC 0.495 NA 21 18 --- --- --- --- NA NA NA NA