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 AGRN 375790 broad.mit.edu 37 1 981868 981868 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:981868C>T uc001ack.1 + 18 3053 c.3003C>T c.(3001-3003)CCC>CCT p.P1001P NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1001 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CGGCCCCCCCCGGCGCCCTCC 0.701 NA 4 26 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16893778 16893778 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:16893778G>A uc009vos.1 - 26 3848 c.2960C>T c.(2959-2961)TCG>TTG p.S987L NBPF1_uc009vot.1_Missense_Mutation_p.S370L|NBPF1_uc001ayz.1_Missense_Mutation_p.S370L|NBPF1_uc010oce.1_Missense_Mutation_p.S641L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 987 NBPF 6. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGAAGGAGTTGAATAACATCT 0.483 NA 13 791 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19473443 19473443 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:19473443C>T uc001bbi.2 - 52 7685 c.7681G>A c.(7681-7683)GAG>AAG p.E2561K UBR4_uc001bbk.1_Missense_Mutation_p.E215K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2561 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCCTTGCCCTCTTTGCTAGAT 0.527 NA 57 175 0 0 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26898704 26898704 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:26898704G>A uc001bmr.1 + 20 2030 c.1867G>A c.(1867-1869)GAG>AAG p.E623K RPS6KA1_uc010ofe.1_Missense_Mutation_p.E531K|RPS6KA1_uc010off.1_3'UTR|RPS6KA1_uc001bms.1_Missense_Mutation_p.E632K|RPS6KA1_uc009vsl.1_Missense_Mutation_p.E466K NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 623 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TGACACACCAGAGGAAATCCT 0.567 NA 10 55 0 0 0 0 GPATCH3 63906 broad.mit.edu 37 1 27220788 27220788 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:27220788C>T uc001bne.2 - 3 1019 c.990G>A c.(988-990)GAG>GAA p.E330E GPATCH3_uc009vsp.1_Silent_p.E141E NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 330 Glu-rich. intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AGCCACCCTTCTCCCACTTGA 0.582 NA 41 95 0 0 0 0 GPATCH3 63906 broad.mit.edu 37 1 27223839 27223839 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:27223839C>G uc001bne.2 - 2 858 c.829G>C c.(829-831)GAG>CAG p.E277Q GPATCH3_uc009vsp.1_Missense_Mutation_p.E88Q NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 277 Glu-rich. intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) ACTTCTTCCTCAGGCTCTCCA 0.542 NA 48 118 0 0 0 0 EYA3 2140 broad.mit.edu 37 1 28374933 28374933 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:28374933T>C uc001bpi.1 - 3 203 c.38A>G c.(37-39)AAA>AGA p.K13R EYA3_uc010ofs.1_5'UTR|EYA3_uc010oft.1_Missense_Mutation_p.K13R|EYA3_uc001bpj.2_Missense_Mutation_p.K13R|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 13 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) CTTGGCTTTTTTCACCTGCAA 0.289 NA 8 25 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579545 35579545 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:35579545G>C uc001bym.2 + 11 2262 c.2114G>C c.(2113-2115)GGA>GCA p.G705A ZMYM1_uc001byn.2_Missense_Mutation_p.G705A|ZMYM1_uc010ohu.1_Missense_Mutation_p.G686A|ZMYM1_uc001byo.2_Missense_Mutation_p.G345A|ZMYM1_uc009vut.2_Missense_Mutation_p.G630A NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 705 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGCAAATTGGAGTTGATATG 0.353 NA 8 43 0 0 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579633 35579633 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:35579633G>C uc001bym.2 + 11 2350 c.2202G>C c.(2200-2202)AAG>AAC p.K734N ZMYM1_uc001byn.2_Missense_Mutation_p.K734N|ZMYM1_uc010ohu.1_Missense_Mutation_p.K715N|ZMYM1_uc001byo.2_Missense_Mutation_p.K374N|ZMYM1_uc009vut.2_Missense_Mutation_p.K659N NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 734 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGAATTCAAGAAAGAAGAAC 0.323 NA 12 47 0 0 0 0 MFSD2A 84879 broad.mit.edu 37 1 40434278 40434278 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:40434278G>A uc001cev.2 + 13 1610 c.1429G>A c.(1429-1431)GAA>AAA p.E477K MFSD2A_uc010ojb.1_Missense_Mutation_p.E425K|MFSD2A_uc001ceu.2_Missense_Mutation_p.E464K|MFSD2A_uc010ojc.1_Missense_Mutation_p.E308K|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Missense_Mutation_p.E128K NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 477 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CTCGCAGCCGGAACGTGTCAA 0.587 NA 45 84 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976647 41976647 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:41976647C>G uc001cgz.3 - 9 7909 c.6696G>C c.(6694-6696)CTG>CTC p.L2232L HIVEP3_uc001cha.3_Silent_p.L2231L|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2232 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCCCCTGTCAGGTCGCTGC 0.692 NA 21 37 0 0 0 0 TOE1 114034 broad.mit.edu 37 1 45809091 45809091 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:45809091G>T uc009vxq.2 + 8 1833 c.1250G>T c.(1249-1251)AGA>ATA p.R417I MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R337I|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 417 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) ATAGCTGATAGAGCTACCTCA 0.517 NA 40 35 5.72e-15 6.19e-15 1 0 CYP4A11 1579 broad.mit.edu 37 1 47401219 47401219 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:47401219T>G uc001cqp.3 - 5 662 c.611A>C c.(610-612)CAT>CCT p.H204P CYP4A11_uc001cqq.2_Missense_Mutation_p.H204P|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 204 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GCTGCCCTGATGGCTGAAGGC 0.572 NA 17 59 0 0 0 0 FOXD2 2306 broad.mit.edu 37 1 47904276 47904276 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:47904276A>G uc001crm.2 + 1 2588 c.469A>G c.(469-471)ATC>GTC p.I157V NM_004474 NP_004465 O60548 FOXD2_HUMAN forkhead box D2 157 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) CTGCGAGTTCATCAGCGGCCG 0.617 NA 21 45 0 0 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52810452 52810452 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:52810452G>A uc001cto.2 + 18 4124 c.3952G>A c.(3952-3954)GAA>AAA p.E1318K ZFYVE9_uc001ctp.2_Missense_Mutation_p.E1259K NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1318 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 GTTTTTCCTAGAAAACGATGA 0.433 NA 20 49 0 0 0 0 ZYG11B 79699 broad.mit.edu 37 1 53262010 53262010 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:53262010G>C uc001cuj.2 + 7 1576 c.1381G>C c.(1381-1383)GAT>CAT p.D461H ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.D452H|ZYG11B_uc009vzh.2_5'Flank NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 461 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CAACCATGAGGATCAAAACAT 0.433 NA 11 35 0 0 0 0 PTGER3 5733 broad.mit.edu 37 1 71478156 71478156 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:71478156C>G uc001dfg.1 - 2 1140 c.909G>C c.(907-909)TTG>TTC p.L303F PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.L303F|PTGER3_uc001dfl.1_Missense_Mutation_p.L303F|PTGER3_uc009wbm.1_Missense_Mutation_p.L303F|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.L303F|PTGER3_uc009wbn.1_Missense_Mutation_p.L303F|PTGER3_uc009wbo.2_Missense_Mutation_p.L303F|PTGER3_uc001dfo.2_Missense_Mutation_p.L303F|PTGER3_uc001dfp.1_Missense_Mutation_p.L303F|PTGER3_uc001dfq.2_Missense_Mutation_p.L303F NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 303 Helical; Name=6; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) AGATCATTTTCAACATCATTA 0.289 NA 14 35 0 0 0 0 CRYZ 1429 broad.mit.edu 37 1 75188946 75188946 + Silent SNP G G A rs146208357 byFrequency TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:75188946G>A uc001dgk.2 - 4 625 c.120C>T c.(118-120)ATC>ATT p.I40I CRYZ_uc001dgj.2_Silent_p.I40I|CRYZ_uc001dgl.2_Silent_p.I40I|CRYZ_uc001dgm.2_5'UTR NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 40 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) CATGGACCTTGATTAGAACCT 0.328 NA 27 67 0 0 0 0 MCOLN2 255231 broad.mit.edu 37 1 85403762 85403762 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:85403762G>C uc001dkm.2 - 10 1355 c.1114C>G c.(1114-1116)CTC>GTC p.L372V MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN mucolipin 2 372 integral to membrane ion channel activity ovary(3)|upper_aerodigestive_tract(1) 4 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TAGTTTGTGAGATTCTAAGGA 0.338 NA 23 26 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91813030 91813030 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:91813030A>G uc001doa.3 - 19 2310 c.2210T>C c.(2209-2211)TTT>TCT p.F737S HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.F416S|HFM1_uc001dob.3_5'UTR|HFM1_uc010osv.1_Missense_Mutation_p.F421S NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 737 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCCAGATGCAAAACCTGCATG 0.303 NA 8 36 0 0 0 0 EPHX4 253152 broad.mit.edu 37 1 92495681 92495681 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:92495681C>T uc001don.2 + 1 149 c.45C>T c.(43-45)CTC>CTT p.L15L NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 15 integral to membrane hydrolase activity central_nervous_system(1) 1 TGCTCACGCTCCGGTCCCTGC 0.701 NA 7 18 0 0 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643210 94643210 + Missense_Mutation SNP G G A rs141790636 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:94643210G>A uc001dqj.3 - 22 3232 c.2863C>T c.(2863-2865)CGC>TGC p.R955C ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R521C NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 955 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTTGCTTGCGTTCTGATTCC 0.343 NA 19 56 0 0 0 0 C1orf161 126868 broad.mit.edu 37 1 116666715 116666715 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:116666715C>A uc001egc.1 + 4 483 c.218C>A c.(217-219)ACA>AAA p.T73K NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 73 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TTCCTCGTCACAGTCCCAATA 0.577 NA 24 65 2.45e-14 2.64e-14 1 0 HAO2 51179 broad.mit.edu 37 1 119927521 119927521 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:119927521C>T uc001ehq.1 + 5 758 c.406C>T c.(406-408)CAG>TAG p.Q136* HAO2_uc001ehr.1_Nonsense_Mutation_p.Q136* NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 136 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TCCAGACCTGCAGCTGAACAA 0.478 NA 23 59 0 0 0 0 VPS45 11311 broad.mit.edu 37 1 150054908 150054908 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:150054908G>A uc001etp.2 + 10 1618 c.1045G>A c.(1045-1047)GAG>AAG p.E349K VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E313K|VPS45_uc010pbs.1_Missense_Mutation_p.E244K|VPS45_uc001etq.2_Missense_Mutation_p.E169K|VPS45_uc009wlm.1_Missense_Mutation_p.E325K NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 349 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAATCTGCTGGAGGTTTCAGA 0.388 NA 18 34 0 0 0 0 SETDB1 9869 broad.mit.edu 37 1 150915471 150915471 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:150915471C>G uc001evu.2 + 7 1007 c.817C>G c.(817-819)CAG>GAG p.Q273E SETDB1_uc009wmf.2_Missense_Mutation_p.Q273E|SETDB1_uc001evv.2_Missense_Mutation_p.Q273E|SETDB1_uc001evw.3_Missense_Mutation_p.Q273E|SETDB1_uc009wmg.1_Missense_Mutation_p.Q273E NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 273 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGATGGGAATCAGGTCTGGCT 0.517 NA 24 75 0 0 0 0 CGN 57530 broad.mit.edu 37 1 151505015 151505015 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:151505015G>C uc009wmw.2 + 14 2853 c.2709G>C c.(2707-2709)AAG>AAC p.K903N CGN_uc010pde.1_5'Flank NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 897 Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGCTGAGAAGACCTCTGGAG 0.502 NA 7 36 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152280813 152280813 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:152280813C>G uc001ezu.1 - 3 6585 c.6549G>C c.(6547-6549)CAG>CAC p.Q2183H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2183 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGATCCTGACTGCCCACGGG 0.537 NA Ichthyosis 5 361 0 0 0 0 FLG2 388698 broad.mit.edu 37 1 152329438 152329438 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:152329438C>T uc001ezw.3 - 3 897 c.824G>A c.(823-825)AGG>AAG p.R275K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 275 Ser-rich.|Filaggrin 1. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACTTCGCCTCCCACTGTC 0.448 NA 93 26 0 0 0 0 CRNN 49860 broad.mit.edu 37 1 152382205 152382205 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:152382205C>G uc001ezx.2 - 3 1427 c.1353G>C c.(1351-1353)GTG>GTC p.V451V NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 451 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGAGGATCACTGTCTCCC 0.577 NA 16 56 0 0 0 0 S100A7A 338324 broad.mit.edu 37 1 153391671 153391671 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:153391671G>C uc001fbt.1 + 3 249 c.192G>C c.(190-192)AAG>AAC p.K64N NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 64 2; high affinity (Potential).|EF-hand 2. cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAAGGACAAGAATGAGGATA 0.423 NA 24 60 0 0 0 0 KCNN3 3782 broad.mit.edu 37 1 154841649 154841649 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:154841649T>C uc001ffp.2 - 1 1106 c.792A>G c.(790-792)CAA>CAG p.Q264Q KCNN3_uc009wox.1_Silent_p.Q264Q NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 269 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGCCAATGTTTTGGTTTTTCC 0.512 NA 71 21 0 0 0 0 FCER1A 2205 broad.mit.edu 37 1 159275900 159275900 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:159275900C>T uc001ftq.2 + 5 553 c.454C>T c.(454-456)CTC>TTC p.L152F NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 152 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGGTGAAGCTCTCAAGTACTG 0.498 NA 26 57 0 0 0 0 IGSF9 57549 broad.mit.edu 37 1 159906249 159906249 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:159906249T>G uc001fur.2 - 6 811 c.613A>C c.(613-615)ACC>CCC p.T205P IGSF9_uc001fuq.2_Missense_Mutation_p.T205P NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 205 Ig-like 2.|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) GCTTGGCAGGTGTAGACCCCA 0.657 NA OREG0013921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 0 0 TDRD5 163589 broad.mit.edu 37 1 179603612 179603612 + Nonsense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:179603612G>T uc001gnf.1 + 8 1397 c.1147G>T c.(1147-1149)GAA>TAA p.E383* TDRD5_uc010pnp.1_Nonsense_Mutation_p.E383*|TDRD5_uc001gnh.1_5'UTR NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 383 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TAAGAAAATAGAAGCCAAAGC 0.383 NA 22 72 6.33e-13 6.81e-13 1 0 KDM5B 10765 broad.mit.edu 37 1 202702867 202702867 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:202702867G>A uc001gyf.2 - 23 3687 c.3571C>T c.(3571-3573)CAA>TAA p.Q1191* KDM5B_uc009xag.2_Nonsense_Mutation_p.Q1227*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q1033* NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1191 PHD-type 2. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AGTTCACATTGAATCATAGGG 0.517 NA 21 47 0 0 0 0 KDM5B 10765 broad.mit.edu 37 1 202731854 202731854 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:202731854C>G uc001gyf.2 - 7 1007 c.891G>C c.(889-891)AAG>AAC p.K297N KDM5B_uc009xag.2_Missense_Mutation_p.K333N|KDM5B_uc001gyg.1_Missense_Mutation_p.K139N NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 297 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 TAGATCGACTCTTGGGCTTTT 0.294 NA 34 154 0 0 0 0 AVPR1B 553 broad.mit.edu 37 1 206225115 206225115 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:206225115G>C uc001hds.2 + 1 833 c.675G>C c.(673-675)GAG>GAC p.E225D NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 225 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TCTGCCATGAGATCTGTAAAA 0.607 NA 23 79 0 0 0 0 KCNH1 3756 broad.mit.edu 37 1 210857055 210857055 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:210857055C>G uc001hib.2 - 11 2708 c.2538G>C c.(2536-2538)AAG>AAC p.K846N KCNH1_uc001hic.2_Missense_Mutation_p.K819N NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 846 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGTCCTCACTCTTCCCGCAAG 0.612 NA 18 62 0 0 0 0 C1orf227 149643 broad.mit.edu 37 1 213009314 213009314 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:213009314C>G uc001hjq.2 - 2 286 c.178G>C c.(178-180)GAT>CAT p.D60H NM_001024601 NP_001019772 Q537H7 CA227_HUMAN hypothetical protein LOC149643 60 0 GTTGTGGTATCAGTAAAGGAC 0.483 NA 30 91 0 0 0 0 CENPF 1063 broad.mit.edu 37 1 214816003 214816003 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:214816003C>T uc001hkm.2 + 12 4496 c.4322C>T c.(4321-4323)TCA>TTA p.S1441L NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1537 1-2.|2 X 96 AA approximate tandem repeats. Missing. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TATGTTGACTCATTAAAGGCC 0.423 NA 12 38 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216040365 216040365 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:216040365C>G uc001hku.1 - 44 9216 c.8829G>C c.(8827-8829)GTG>GTC p.V2943V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2943 Fibronectin type-III 16.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGCCCACCTCACGTCGATGG 0.448 NA HNSCC(13;0.011) 18 47 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228509435 228509435 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:228509435G>A uc009xez.1 + 55 14937 c.14893G>A c.(14893-14895)GAT>AAT p.D4965N OBSCN_uc001hsn.2_Missense_Mutation_p.D4965N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4965 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGACCGTGCTGATGCTGGCTG 0.602 NA 22 76 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237947379 237947379 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:237947379G>A uc001hyl.1 + 90 12487 c.12367G>A c.(12367-12369)GAG>AAG p.E4123K RYR2_uc010pya.1_Missense_Mutation_p.E538K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4123 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTAGCAGAGAGCGTCCT 0.512 NA 19 24 0 0 0 0 CEP170 9859 broad.mit.edu 37 1 243354558 243354558 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:243354558C>G uc001hzs.2 - 8 1278 c.870G>C c.(868-870)GGG>GGC p.G290G CEP170_uc001hzt.2_Silent_p.G290G|CEP170_uc001hzu.2_Silent_p.G290G NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 290 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TAGTTACCTTCCCTGGGGTAC 0.438 NA 4 16 0 0 0 0 PGBD2 267002 broad.mit.edu 37 1 249211397 249211397 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:249211397C>T uc001ifh.2 + 3 761 c.614C>T c.(613-615)CCC>CTC p.P205L PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.P202L NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 205 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GAAACCTCTCCCGATTCACAT 0.398 NA 34 120 0 0 0 0 AKR1C4 1109 broad.mit.edu 37 10 5254582 5254582 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:5254582G>C uc001ihw.2 + 6 607 c.574G>C c.(574-576)GAA>CAA p.E192Q NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 192 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) TCTAAAGGTAGAATGTCATCC 0.348 NA 11 30 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55912906 55912906 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:55912906C>A uc001jju.1 - 14 2133 c.1738G>T c.(1738-1740)GCA>TCA p.A580S PCDH15_uc010qhq.1_Missense_Mutation_p.A585S|PCDH15_uc010qhr.1_Missense_Mutation_p.A580S|PCDH15_uc010qhs.1_Missense_Mutation_p.A592S|PCDH15_uc010qht.1_Missense_Mutation_p.A587S|PCDH15_uc010qhu.1_Missense_Mutation_p.A580S|PCDH15_uc001jjv.1_Missense_Mutation_p.A558S|PCDH15_uc010qhv.1_Missense_Mutation_p.A580S|PCDH15_uc010qhw.1_Missense_Mutation_p.A543S|PCDH15_uc010qhx.1_Missense_Mutation_p.A580S|PCDH15_uc010qhy.1_Missense_Mutation_p.A585S|PCDH15_uc010qhz.1_Missense_Mutation_p.A580S|PCDH15_uc010qia.1_Missense_Mutation_p.A558S|PCDH15_uc010qib.1_Missense_Mutation_p.A558S|PCDH15_uc001jjw.2_Missense_Mutation_p.A580S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 580 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACCGTGAGTGCGTAAGTCCGC 0.488 NA HNSCC(58;0.16) 12 31 0.000978159 0.00100873 1 0 BICC1 80114 broad.mit.edu 37 10 60272997 60272997 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:60272997G>A uc001jki.1 + 1 94 c.94G>A c.(94-96)GAG>AAG p.E32K NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 32 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GCCCGGCTCCGAGGACGACTT 0.697 NA 13 18 0 0 0 0 PLAU 5328 broad.mit.edu 37 10 75672797 75672797 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:75672797G>A uc001jwa.2 + 5 455 c.309G>A c.(307-309)ACG>ACA p.T103T C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.T86T|PLAU_uc010qkx.1_Silent_p.T17T|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.T103T|PLAU_uc009xrq.1_Silent_p.T67T NM_002658 NP_002649 P00749 UROK_HUMAN plasminogen activator, urokinase isoform 1 103 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity ovary(2)|kidney(1) 3 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) TTCAGCAAACGTACCATGCCC 0.572 NA 10 47 0 0 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743390 102743390 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:102743390G>C uc001krw.1 + 14 2418 c.2034G>C c.(2032-2034)GTG>GTC p.V678V SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 673 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CACCTGATGTGAGACTGCTCT 0.637 NA 3 21 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105174042 105174042 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:105174042T>C uc001kwy.1 + 11 1413 c.1326T>C c.(1324-1326)GCT>GCC p.A442A NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 442 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTATTGAAGCTCAGTACCTTA 0.433 NA 16 28 0 0 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202613 118202613 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:118202613G>T uc001lcl.3 + 3 352 c.251G>T c.(250-252)GGA>GTA p.G84V NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 84 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TCATATTTTGGAACAGACAAG 0.348 NA 9 31 1.13e-05 1.18e-05 1 0 LHPP 64077 broad.mit.edu 37 10 126172787 126172787 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr10:126172787C>T uc001lhs.1 + 2 225 c.205C>T c.(205-207)CAG>TAG p.Q69* LHPP_uc001lht.1_Nonsense_Mutation_p.Q69*|LHPP_uc009yai.1_Nonsense_Mutation_p.Q69* NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 69 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) GGGGCAGCTTCAGAGGCTGGG 0.627 NA 13 51 0 0 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606411 1606411 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1606411G>A uc001ltu.1 - 1 103 c.69C>T c.(67-69)GGC>GGT p.G23G LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 23 keratin filament 0 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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGAGCCACAGCCCCCACAGC 0.677 NA 3 64 0 0 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1628959 1628959 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1628959G>A uc001ltw.1 - 1 735 c.657C>T c.(655-657)TGC>TGT p.C219C NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 219 11 X 4 AA repeats of C-C-X-P.|10. 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) AGCAGGGCTTgcagcagctgg 0.294 NA 6 169 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642730 1642730 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642730A>G uc009ycy.1 - 4 819 c.732T>C c.(730-732)GGT>GGC p.G244G NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 258 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGACCCACAACCTGAGGAGG 0.597 NA 6 108 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642736 1642736 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642736G>A uc009ycy.1 - 4 813 c.726C>T c.(724-726)TCC>TCT p.S242S NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 256 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAACCTGAGGAGGAGCAGC 0.597 NA 6 114 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642740 1642740 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642740G>C uc009ycy.1 - 4 809 c.722C>G c.(721-723)TCC>TGC p.S241C NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 255 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACCTGAGGAGGAGCAGCAGGG 0.597 NA 6 115 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642817 1642817 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642817A>G uc009ycy.1 - 4 732 c.645T>C c.(643-645)GGT>GGC p.G215G NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 229 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGACCCACAACCTGAGGAGG 0.612 NA 4 118 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642823 1642823 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1642823G>A uc009ycy.1 - 4 726 c.639C>T c.(637-639)TCC>TCT p.S213S NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 227 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAACCTGAGGAGGAGCAGC 0.617 NA 12 117 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643252 1643252 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:1643252A>G uc009ycy.1 - 1 117 c.30T>C c.(28-30)TGT>TGC p.C10C NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 24 keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) agccagagccacagcccccac 0.254 NA 101 33 0 0 0 0 OR52K1 390036 broad.mit.edu 37 11 4510323 4510323 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:4510323C>G uc001lza.1 + 1 193 c.193C>G c.(193-195)CTG>GTG p.L65V NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GTACCTCTTTCTGGCCATGTT 0.488 NA 34 22 0 0 0 0 OR51A7 119687 broad.mit.edu 37 11 4929349 4929349 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:4929349C>A uc010qyq.1 + 1 750 c.750C>A c.(748-750)TTC>TTA p.F250L NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTCACCTTCTATGTGCCCA 0.483 NA 40 56 4.18e-13 4.5e-13 1 0 KCNA4 3739 broad.mit.edu 37 11 30034073 30034073 + Silent SNP G G C rs60942363 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:30034073G>C uc001msk.2 - 2 1305 c.153C>G c.(151-153)GTC>GTG p.V51V NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 51 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGCTACCTTCGACAGCAGCTG 0.677 NA 14 16 0 0 0 0 TTC17 55761 broad.mit.edu 37 11 43411297 43411297 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:43411297C>G uc001mxi.2 + 3 359 c.345C>G c.(343-345)ATC>ATG p.I115M TTC17_uc001mxh.2_Missense_Mutation_p.I115M|TTC17_uc010rfj.1_Missense_Mutation_p.I58M NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 115 binding ovary(5) 5 CAGACTGCATCAAAGCCAAGG 0.398 NA 27 134 0 0 0 0 OR4A16 81327 broad.mit.edu 37 11 55111514 55111514 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55111514T>A uc010rie.1 + 1 838 c.838T>A c.(838-840)TTG>ATG p.L280M NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 CACACTCATGTTGAATCCTTT 0.318 NA 13 54 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55658863 55658863 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55658863G>C uc010rip.1 + 7 1206 c.1114G>C c.(1114-1116)GAT>CAT p.D372H SPRYD5_uc010riq.1_Missense_Mutation_p.D229H NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 372 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) TGACAAGATAGATGGAGAGGA 0.443 NA 17 63 0 0 0 0 OR8H3 390152 broad.mit.edu 37 11 55890553 55890553 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:55890553G>C uc001nii.1 + 1 705 c.705G>C c.(703-705)CAG>CAC p.Q235H NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.413 NA 19 117 0 0 0 0 SSRP1 6749 broad.mit.edu 37 11 57097867 57097867 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:57097867C>T uc001njt.2 - 11 1600 c.1333G>A c.(1333-1335)GAT>AAT p.D445N NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 445 Asp/Glu-rich (acidic). DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TGGTCCTCATCAGAGTCAGCA 0.537 NA 4 31 0 0 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466638 57466638 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:57466638C>T uc001nkx.1 + 11 2986 c.1730C>T c.(1729-1731)TCG>TTG p.S577L ZDHHC5_uc001nky.1_Missense_Mutation_p.S524L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S391L NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 577 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 ACACCAGGCTCGGGCCATGCC 0.597 NA 34 144 0 0 0 0 OR5B3 441608 broad.mit.edu 37 11 58170596 58170596 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:58170596G>C uc010rkf.1 - 1 287 c.287C>G c.(286-288)GCT>GGT p.A96G NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATTTGAGCAGCACATGCATT 0.448 NA 24 87 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59190242 59190242 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59190242A>G uc010rkt.1 - 1 185 c.185T>C c.(184-186)TTC>TCC p.F62S NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTGAGGAAGAAGTACATGGG 0.488 NA 29 52 0 0 0 0 OR4D9 390199 broad.mit.edu 37 11 59283060 59283060 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59283060G>C uc010rkv.1 + 1 675 c.675G>C c.(673-675)CTG>CTC p.L225L NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGATGATGCTGAGGTCTCACA 0.488 NA 32 167 0 0 0 0 MS4A3 932 broad.mit.edu 37 11 59829989 59829989 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:59829989C>T uc001nom.2 + 3 333 c.205C>T c.(205-207)CTG>TTG p.L69L MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 69 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) GGGTGTCTTTCTGGGTTCCTT 0.453 NA 25 102 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60183118 60183118 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:60183118G>C uc001npj.2 + 5 1242 c.677G>C c.(676-678)AGA>ACA p.R226T MS4A14_uc001npi.2_Missense_Mutation_p.R114T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.R209T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 226 integral to membrane receptor activity breast(1) 1 AATAAAGGTAGAGAATTTGTG 0.403 NA 22 87 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60183186 60183186 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:60183186G>A uc001npj.2 + 5 1310 c.745G>A c.(745-747)GAA>AAA p.E249K MS4A14_uc001npi.2_Missense_Mutation_p.E137K|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.E232K|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 249 integral to membrane receptor activity breast(1) 1 GGAAGAAATTGAACCTTTGCC 0.383 NA 11 91 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62287084 62287084 + Silent SNP C C T rs149805243 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:62287084C>T uc001ntl.2 - 5 15105 c.14805G>A c.(14803-14805)CCG>CCA p.P4935P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4935 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTCTAACTTCGGACCTGAAA 0.458 NA 24 118 0 0 0 0 COX8A 1351 broad.mit.edu 37 11 63743743 63743743 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:63743743C>T uc001nye.2 + 2 235 c.161C>T c.(160-162)CCA>CTA p.P54L NM_004074 NP_004065 P10176 COX8A_HUMAN cytochrome c oxidase subunit VIIIa precursor 54 Helical; (By similarity). respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity 0 TTCCTCCTGCCAGCGGGCTGG 0.597 NA 100 135 0 0 0 0 SCYL1 57410 broad.mit.edu 37 11 65293810 65293810 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:65293810C>T uc001oea.1 + 4 668 c.591C>T c.(589-591)GTC>GTT p.V197V SCYL1_uc009yqk.2_Silent_p.V197V|SCYL1_uc001oeb.1_Silent_p.V197V|SCYL1_uc001oec.1_Silent_p.V197V|SCYL1_uc001oed.1_Silent_p.V54V NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 197 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 GCAGAGTGGTCAGAGAGAAGT 0.662 NA 5 33 0 0 0 0 ACTN3 89 broad.mit.edu 37 11 66328070 66328070 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:66328070C>G uc001oio.1 + 15 1722 c.1704C>G c.(1702-1704)TTC>TTG p.F568L ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 568 Spectrin 3. focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 ACGATCAGTTCAAGGCAACAC 0.547 NA 19 37 0 0 0 0 LRP5 4041 broad.mit.edu 37 11 68179074 68179074 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:68179074C>T uc001ont.2 + 11 2564 c.2489C>T c.(2488-2490)TCG>TTG p.S830L LRP5_uc009ysg.2_Missense_Mutation_p.S240L NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 830 LDL-receptor class B 14.|Beta-propeller 3.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 ATGATCGAGTCGTCCAACATG 0.657 NA 5 56 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70028776 70028776 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:70028776G>A uc001opj.2 + 24 2877 c.2572G>A c.(2572-2574)GAG>AAG p.E858K ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E567K|ANO1_uc010rql.1_Missense_Mutation_p.E32K NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 858 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCTGGGCTACGAGGTGCAGAT 0.587 NA 7 183 0 0 0 0 PGR 5241 broad.mit.edu 37 11 100933223 100933223 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:100933223C>T uc001pgh.2 - 4 2910 c.2167G>A c.(2167-2169)GAG>AAG p.E723K PGR_uc001pgg.2_Missense_Mutation_p.E104K|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 723 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AGTTGCCTCTCGCCTAGTTGA 0.358 NA 26 56 0 0 0 0 RNF214 257160 broad.mit.edu 37 11 117110556 117110556 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:117110556C>T uc001pqt.2 + 4 703 c.658C>T c.(658-660)CAA>TAA p.Q220* RNF214_uc001pqu.2_Nonsense_Mutation_p.Q220*|RNF214_uc010rxf.1_Nonsense_Mutation_p.Q65* NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 220 Potential. zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) AAACACAGATCAAGATATTGA 0.318 NA 6 17 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2693722 2693722 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:2693722G>A uc009zdu.1 + 16 2591 c.2278G>A c.(2278-2280)GAG>AAG p.E760K CACNA1C_uc009zdv.1_Missense_Mutation_p.E757K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E760K|CACNA1C_uc001qke.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E760K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E760K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E760K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E760K|CACNA1C_uc001qko.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E760K|CACNA1C_uc001qku.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E760K|CACNA1C_uc001qks.2_Missense_Mutation_p.E760K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E760K|CACNA1C_uc001qka.1_Missense_Mutation_p.E295K|CACNA1C_uc001qki.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E496K|CACNA1C_uc001qkw.2_Missense_Mutation_p.E49K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 760 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGCTGATGCTGAGAGCCTCAC 0.433 NA 13 45 0 0 0 0 CASC1 55259 broad.mit.edu 37 12 25274696 25274696 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:25274696C>T uc001rgl.2 - 10 1294 c.1212G>A c.(1210-1212)ATG>ATA p.M404I CASC1_uc001rgk.2_Missense_Mutation_p.M410I|CASC1_uc001rgm.3_Missense_Mutation_p.M468I|CASC1_uc001rgj.2_Missense_Mutation_p.M364I|CASC1_uc010sje.1_Missense_Mutation_p.M345I|CASC1_uc010sjf.1_Missense_Mutation_p.M292I|CASC1_uc010sjg.1_Missense_Mutation_p.M404I NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 404 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CTTCCACAATCATCCATCCCT 0.353 NA 22 46 0 0 0 0 DENND5B 160518 broad.mit.edu 37 12 31555438 31555438 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:31555438G>T uc001rki.1 - 15 3129 c.2943C>A c.(2941-2943)ACC>ACA p.T981T DENND5B_uc001rkh.1_Silent_p.T1016T|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 981 PLAT. integral to membrane ovary(1)|central_nervous_system(1) 2 CTACCTCAAAGGTCATTTCGA 0.398 NA 39 46 2.48e-24 2.69e-24 1 0 LRRK2 120892 broad.mit.edu 37 12 40689444 40689444 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:40689444G>A uc001rmg.3 + 23 3215 c.3094G>A c.(3094-3096)GAA>AAA p.E1032K LRRK2_uc001rmh.1_Missense_Mutation_p.E654K|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1032 LRR 2. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ACAGCTATGTGAAGTAAATTT 0.343 NA 5 29 0 0 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:41967475G>A uc010skn.1 + 10 2365 c.2297G>A c.(2296-2298)CGA>CAA p.R766Q PDZRN4_uc001rmq.3_Missense_Mutation_p.R707Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R705Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R592Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 965 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCATGATGCGAAGCAGGTTA 0.507 NA 12 32 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49436573 49436573 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:49436573G>T uc001rta.3 - 26 5733 c.5733C>A c.(5731-5733)ACC>ACA p.T1911T NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1911 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTAGGCCAGGGGTTCCACAAC 0.542 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 24 58 1.66e-10 1.78e-10 1 0 METTL1 4234 broad.mit.edu 37 12 58163602 58163602 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:58163602G>A uc010ssd.1 - 3 460 c.412C>T c.(412-414)CGT>TGT p.R138C CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Intron|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN methyltransferase-like protein 1 isoform a 138 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding 0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GCATTGCTACGGAGACAGGCG 0.607 NA 7 31 0 0 0 0 SRGAP1 57522 broad.mit.edu 37 12 64383777 64383777 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:64383777G>C uc010ssp.1 + 3 407 c.351G>C c.(349-351)TTG>TTC p.L117F SRGAP1_uc001srt.2_Missense_Mutation_p.L117F|SRGAP1_uc001srv.2_Missense_Mutation_p.L77F NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 117 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATGCAACCTTGAGTGACATCT 0.423 NA 28 63 0 0 0 0 DDX54 79039 broad.mit.edu 37 12 113599751 113599751 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:113599751C>G uc001tup.2 - 18 2275 c.2247G>C c.(2245-2247)AAG>AAC p.K749N DDX54_uc001tuq.3_Missense_Mutation_p.K749N NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 749 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 TCTTAATCTTCTTCTTGTCTT 0.602 NA 40 100 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 120995255 120995255 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:120995255G>C uc001typ.3 + 5 1299 c.816G>C c.(814-816)AAG>AAC p.K272N RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.K178N NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 272 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTGCATAAGAAGGATCTCA 0.443 NA 34 81 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 120995384 120995384 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:120995384G>A uc001typ.3 + 6 1349 c.866G>A c.(865-867)GGT>GAT p.G289D RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.G195D NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 289 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TATGTTGTTGGTGATACCATT 0.448 NA 31 109 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124957522 124957522 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:124957522C>T uc010tba.1 - 4 684 c.567G>A c.(565-567)CAG>CAA p.Q189Q NCOR2_uc010tay.1_Silent_p.Q189Q|NCOR2_uc010taz.1_Silent_p.Q189Q|NCOR2_uc010tbb.1_Silent_p.Q189Q|NCOR2_uc010tbc.1_Silent_p.Q189Q|NCOR2_uc001ugj.1_Silent_p.Q189Q|NCOR2_uc001ugk.1_Silent_p.Q189Q NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 189 Potential. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTTAGAGATCTGCTGCTCTA 0.577 NA 30 77 0 0 0 0 SLC15A4 121260 broad.mit.edu 37 12 129293444 129293444 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:129293444G>C uc001uhu.2 - 5 1200 c.1147C>G c.(1147-1149)CTG>GTG p.L383V SLC15A4_uc001uhv.2_RNA NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 383 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TTGTCCTTCAGAGGGATGAGC 0.557 NA 19 67 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926553 130926553 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:130926553G>A uc001uil.2 - 8 1457 c.1293C>T c.(1291-1293)ATC>ATT p.I431I RIMBP2_uc001uim.2_Silent_p.I339I|RIMBP2_uc001uin.1_Silent_p.I90I NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 431 Fibronectin type-III 2. cell junction|synapse p.I431I(1) upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGGCCTTGACGATGTCGAACT 0.567 NA 11 51 0 0 0 0 XPO4 64328 broad.mit.edu 37 13 21417053 21417053 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:21417053C>G uc001unq.3 - 6 744 c.708G>C c.(706-708)TGG>TGC p.W236C XPO4_uc010tcr.1_Missense_Mutation_p.W162C NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 236 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GAAGAAAGTTCCAGCTCAAGA 0.408 NA 7 20 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29599371 29599371 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:29599371G>C uc001usl.3 + 1 624 c.566G>C c.(565-567)AGA>ACA p.R189T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 179 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TCTTTGGAAAGAGCAAGCAGC 0.547 NA 22 42 0 0 0 0 KL 9365 broad.mit.edu 37 13 33627907 33627907 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:33627907C>T uc001uus.2 + 2 831 c.823C>T c.(823-825)CAT>TAT p.H275Y KL_uc001uur.1_5'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 275 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTCATAGGCTCATGCCAAAGT 0.413 NA 19 49 0 0 0 0 KL 9365 broad.mit.edu 37 13 33638296 33638296 + Silent SNP G G A rs139874106 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:33638296G>A uc001uus.2 + 5 3020 c.3012G>A c.(3010-3012)TCG>TCA p.S1004S NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 1004 Cytoplasmic (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTACTACTCGAAGAAAGGCA 0.333 NA 9 14 0 0 0 0 RBM26 64062 broad.mit.edu 37 13 79911235 79911235 + Splice_Site SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:79911235A>G uc001vkz.2 - 19 2753 c.2739_splice c.e19+1 p.A913_splice RBM26_uc001vky.2_Splice_Site_p.A884_splice|RBM26_uc001vla.2_Splice_Site_p.A887_splice|RBM26_uc010tia.1_Splice_Site_p.A268_splice|RBM26_uc001vkx.2_Splice_Site_p.A623_splice NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTAAGAAAGTACCGCAAAATG 0.413 NA 9 3 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109540724 109540724 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr13:109540724G>C uc001vqt.1 + 14 1618 c.1492G>C c.(1492-1494)GAA>CAA p.E498Q MYO16_uc010agk.1_Missense_Mutation_p.E520Q|MYO16_uc001vqu.1_Missense_Mutation_p.E298Q|MYO16_uc010tjh.1_Missense_Mutation_p.E10Q NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 498 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTTAGTGGAGAAAGGGGATC 0.438 NA 34 14 0 0 0 0 OR4K5 79317 broad.mit.edu 37 14 20388770 20388770 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:20388770A>G uc010tkw.1 + 1 5 c.5A>G c.(4-6)GAT>GGT p.D2G NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAACCATGGATAAGTCCAAT 0.353 NA 8 41 0 0 0 0 G2E3 55632 broad.mit.edu 37 14 31081542 31081542 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:31081542C>G uc001wqk.2 + 13 1784 c.1630C>G c.(1630-1632)CTT>GTT p.L544V G2E3_uc010tpf.1_Missense_Mutation_p.L498V|G2E3_uc001wql.1_Missense_Mutation_p.L56V NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 544 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AAAAGACATACTTGGCTACCA 0.299 NA 20 46 0 0 0 0 STRN3 29966 broad.mit.edu 37 14 31405711 31405711 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:31405711T>C uc001wqu.2 - 6 1052 c.836A>G c.(835-837)AAT>AGT p.N279S STRN3_uc001wqv.2_Missense_Mutation_p.N279S|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 279 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTTATGTTTATTCATCCGATG 0.328 NA 16 27 0 0 0 0 TRIM9 114088 broad.mit.edu 37 14 51561183 51561183 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:51561183G>A uc001wyx.3 - 1 1240 c.475C>T c.(475-477)CAG>TAG p.Q159* TRIM9_uc001wyy.2_Nonsense_Mutation_p.Q159*|TRIM9_uc001wyz.3_Nonsense_Mutation_p.Q159* NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 159 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) TTGCTCTGCTGGTAGCGGTCA 0.617 NA 11 28 0 0 0 0 RHOJ 57381 broad.mit.edu 37 14 63749901 63749901 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:63749901C>T uc001xgb.1 + 4 908 c.465C>T c.(463-465)CTC>CTT p.L155L NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 155 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) AGAAACCTCTCACTTACGAGC 0.398 NA 17 36 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64564771 64564771 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:64564771G>C uc001xgm.2 + 62 12443 c.12213G>C c.(12211-12213)TTG>TTC p.L4071F SYNE2_uc001xgl.2_Missense_Mutation_p.L4071F|SYNE2_uc010apy.2_Missense_Mutation_p.L456F|SYNE2_uc010apx.1_Missense_Mutation_p.L463F|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4071 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACCAGCATTTGAAGCAAGAAC 0.473 NA 6 73 0 0 0 0 ARG2 384 broad.mit.edu 37 14 68086772 68086772 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:68086772G>A uc001xjs.2 + 1 194 c.78G>A c.(76-78)GTG>GTA p.V26V NM_001172 NP_001163 P78540 ARGI2_HUMAN arginase 2 precursor 26 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding 0 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TCCACTCCGTGGCTGTGATAG 0.622 NA 8 15 0 0 0 0 FCF1 51077 broad.mit.edu 37 14 75181623 75181623 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75181623C>G uc001xqh.2 + 3 171 c.120C>G c.(118-120)CCC>CCG p.P40P KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqe.1_RNA|FCF1_uc001xqf.1_Silent_p.P25P|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA NM_015962 NP_057046 Q9Y324 FCF1_HUMAN FCF1 small subunit 40 rRNA processing nucleolus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0037) AGAAGGATCCCAGCGCATTAA 0.353 NA 5 7 0 0 0 0 DLST 1743 broad.mit.edu 37 14 75359641 75359641 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75359641C>T uc001xqv.2 + 8 610 c.547C>T c.(547-549)CAG>TAG p.Q183* DLST_uc001xqu.2_Nonsense_Mutation_p.Q95*|DLST_uc001xqt.2_Nonsense_Mutation_p.Q99*|DLST_uc010tuw.1_Nonsense_Mutation_p.Q97*|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Nonsense_Mutation_p.Q183* NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 183 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) CATACCCACTCAGATGCCACC 0.587 NA 18 21 0 0 0 0 DLST 1743 broad.mit.edu 37 14 75361017 75361017 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:75361017G>C uc001xqv.2 + 10 738 c.675G>C c.(673-675)GAG>GAC p.E225D DLST_uc001xqu.2_Missense_Mutation_p.E137D|DLST_uc001xqt.2_Missense_Mutation_p.E141D|DLST_uc010tuw.1_Missense_Mutation_p.E139D|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.E225D NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 225 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) ACTTTCAGGAGAAAATGAACA 0.473 NA 47 83 0 0 0 0 C14orf118 55668 broad.mit.edu 37 14 76621245 76621245 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:76621245C>G uc001xsh.2 + 2 625 c.539C>G c.(538-540)TCA>TGA p.S180* C14orf118_uc001xsi.2_Nonsense_Mutation_p.S180*|C14orf118_uc001xsj.1_Nonsense_Mutation_p.S180*|C14orf118_uc001xsk.1_Nonsense_Mutation_p.S180*|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 180 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) TGGACCTCATCAGGCCACGGA 0.483 NA 6 19 0 0 0 0 C14orf145 145508 broad.mit.edu 37 14 81209426 81209426 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:81209426C>T uc001xux.2 - 18 2970 c.2799G>A c.(2797-2799)GAG>GAA p.E933E C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 933 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CACCTCTCTTCTCACGATGTA 0.378 NA 18 86 0 0 0 0 SEL1L 6400 broad.mit.edu 37 14 81952776 81952776 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:81952776C>T uc010tvv.1 - 17 1772 c.1655G>A c.(1654-1656)CGA>CAA p.R552Q NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 552 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCAACGGCCTCGTTCACATAC 0.413 NA 34 106 0 0 0 0 SETD3 84193 broad.mit.edu 37 14 99932040 99932040 + Nonsense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:99932040T>A uc001ygc.2 - 2 273 c.103A>T c.(103-105)AAA>TAA p.K35* SETD3_uc001ygd.2_Nonsense_Mutation_p.K35*|SETD3_uc001ygf.2_Nonsense_Mutation_p.K35* NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 35 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) GAGGACTTACTCTGCAGCAGC 0.502 NA 9 30 0 0 0 0 EIF5 1983 broad.mit.edu 37 14 103807372 103807372 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:103807372G>C uc001ymq.2 + 12 1801 c.1279G>C c.(1279-1281)GAT>CAT p.D427H EIF5_uc001ymr.2_Missense_Mutation_p.D427H|EIF5_uc001yms.2_Missense_Mutation_p.D427H|EIF5_uc001ymt.2_Missense_Mutation_p.D427H|EIF5_uc001ymu.2_Missense_Mutation_p.D427H NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 427 Asp-rich (acidic). regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) TGACGACATCGATATTGATGC 0.403 NA 7 42 0 0 0 0 SIVA1 10572 broad.mit.edu 37 14 105225821 105225821 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:105225821G>A uc001yph.2 + 4 596 c.527G>A c.(526-528)TGA>TAA p.*176* INF2_uc010tyi.1_Intron|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.*111* NM_006427 NP_006418 O15304 SIVA_HUMAN CD27-binding (Siva) protein isoform 1 176 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding 0 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) TTCGAGACCTGAGGCTGGCTC 0.597 NA 4 23 0 0 0 0 AKT1 207 broad.mit.edu 37 14 105241317 105241317 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr14:105241317G>A uc001ypk.2 - 7 1145 c.591C>T c.(589-591)ACC>ACT p.T197T INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.T197T|AKT1_uc010axa.2_Silent_p.T197T|AKT1_uc001ypm.2_Silent_p.T197T|AKT1_uc001ypn.2_Silent_p.T197T|AKT1_uc010tyk.1_Silent_p.T135T NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 197 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CGCGGTTCTCGGTGAGTGTGT 0.682 1 Mis breast|colorectal|ovarian|NSCLC 14 56 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31339443 31339443 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:31339443C>T uc001zfm.2 - 14 1697 c.1569G>A c.(1567-1569)CCG>CCA p.P523P TRPM1_uc010azy.2_Silent_p.P430P|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 523 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAATCAGGCGGAAGGTTGC 0.547 NA 6 25 0 0 0 0 C15orf24 56851 broad.mit.edu 37 15 34382601 34382601 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:34382601G>C uc001zhm.2 - 3 425 c.412C>G c.(412-414)CTC>GTC p.L138V C15orf24_uc001zhn.2_Missense_Mutation_p.L21V NM_020154 NP_064539 Q9NPA0 CO024_HUMAN chromosome 15 open reading frame 24 precursor 138 Extracellular (Potential). cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding 0 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) TTCATTTGGAGAGGATAGGGC 0.393 NA 15 60 0 0 0 0 CASC5 57082 broad.mit.edu 37 15 40914964 40914964 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:40914964G>A uc010bbs.1 + 11 2741 c.2580G>A c.(2578-2580)CAG>CAA p.Q860Q CASC5_uc010ucq.1_Silent_p.Q684Q|CASC5_uc001zme.2_Silent_p.Q834Q|CASC5_uc010bbt.1_Silent_p.Q834Q NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 860 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAAGTGTACAGAAACCTAAAT 0.338 NA 32 44 0 0 0 0 SPINT1 6692 broad.mit.edu 37 15 41148218 41148218 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:41148218G>A uc001zna.2 + 9 1498 c.1294G>A c.(1294-1296)GAG>AAG p.E432K SPINT1_uc001znb.2_Missense_Mutation_p.E416K|SPINT1_uc001znc.2_Missense_Mutation_p.E416K|SPINT1_uc010ucs.1_Missense_Mutation_p.E423K NM_181642 NP_857593 O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 432 BPTI/Kunitz inhibitor 2. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GAACAACTTTGAGGAAGAGCA 0.577 NA 32 87 0 0 0 0 ZFP106 64397 broad.mit.edu 37 15 42742338 42742338 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:42742338G>A uc001zpw.2 - 2 2398 c.2063C>T c.(2062-2064)TCT>TTT p.S688F ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.S471F|ZFP106_uc001zpy.1_Missense_Mutation_p.S711F NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 688 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TGTTTCATAAGATACATGAGA 0.453 NA 34 103 0 0 0 0 SERINC4 619189 broad.mit.edu 37 15 44087395 44087395 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:44087395G>T uc010bds.1 - 9 1096 c.628C>A c.(628-630)CTG>ATG p.L210M ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Missense_Mutation_p.N97K|SERINC4_uc001zte.1_Missense_Mutation_p.L210M NM_001033517 NP_001028689 A6NH21 SERC4_HUMAN serine incorporator 4 454 phospholipid biosynthetic process integral to membrane 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) GTCTTTTCCAGTTCTGCTCCC 0.507 NA 11 33 2.27e-07 2.41e-07 1 0 SLC30A4 7782 broad.mit.edu 37 15 45778943 45778943 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:45778943C>G uc001zvj.2 - 7 1313 c.1001G>C c.(1000-1002)GGT>GCT p.G334A NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 334 Cytoplasmic (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) GCTTGGCACACCTATTAGGAA 0.294 NA 41 167 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50866575 50866575 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:50866575C>G uc001zyt.3 - 36 5468 c.5204G>C c.(5203-5205)GGA>GCA p.G1735A TRPM7_uc001zyr.2_Missense_Mutation_p.G172A NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1735 Cytoplasmic (Potential).|Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AATCTCATCTCCATTATTATT 0.388 NA 10 43 0 0 0 0 TRPM7 54822 broad.mit.edu 37 15 50866605 50866605 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:50866605C>G uc001zyt.3 - 36 5438 c.5174G>C c.(5173-5175)GGA>GCA p.G1725A TRPM7_uc001zyr.2_Missense_Mutation_p.G162A NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1725 Cytoplasmic (Potential).|Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTAAATTCTCCAGTCATACA 0.343 NA 4 31 0 0 0 0 DMXL2 23312 broad.mit.edu 37 15 51778300 51778300 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:51778300G>C uc002abf.2 - 23 5677 c.5452C>G c.(5452-5454)CAA>GAA p.Q1818E DMXL2_uc010ufy.1_Missense_Mutation_p.Q1818E|DMXL2_uc010bfa.2_Missense_Mutation_p.Q1182E NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1818 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TTTGGTGTTTGTTCCAGTAAT 0.383 NA 30 27 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54305292 54305292 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:54305292G>T uc002ack.2 + 1 192 c.192G>T c.(190-192)AAG>AAT p.K64N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 64 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCACTGTAAAGAAGATTGCAA 0.423 NA 9 47 0.00448238 0.00458425 1 0 UNC13C 440279 broad.mit.edu 37 15 54586136 54586136 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:54586136G>A uc002ack.2 + 9 3862 c.3862G>A c.(3862-3864)GAT>AAT p.D1288N UNC13C_uc002acl.2_Missense_Mutation_p.D118N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1288 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAGAGTATGGGATGAAGATGA 0.358 NA 31 29 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65489097 65489097 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:65489097C>T uc002aon.2 - 9 3708 c.3527G>A c.(3526-3528)AGA>AAA p.R1176K NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1176 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TTGAGCAACTCTAGGAAATCT 0.557 NA 14 30 0 0 0 0 KIF23 9493 broad.mit.edu 37 15 69739225 69739225 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:69739225G>A uc002asb.2 + 22 2929 c.2812G>A c.(2812-2814)GAG>AAG p.E938K KIF23_uc002asc.2_Missense_Mutation_p.E834K|KIF23_uc010bii.2_Missense_Mutation_p.E744K|KIF23_uc010ukc.1_Missense_Mutation_p.E651K NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 938 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 TGTGGCTGTGGAGATGAGAGC 0.468 NA 13 70 0 0 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72953676 72953676 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:72953676C>T uc010uks.1 + 8 677 c.636C>T c.(634-636)AAC>AAT p.N212N NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 212 Potential. 0 CGCTGCTGAACGCACACGTGA 0.582 NA 9 43 0 0 0 0 CSPG4 1464 broad.mit.edu 37 15 75982533 75982533 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:75982533G>A uc002baw.2 - 3 966 c.873C>T c.(871-873)ATC>ATT p.I291I NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 291 Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 GGTGAGCATTGATGTGGACAC 0.617 NA 12 34 0 0 0 0 ISL2 64843 broad.mit.edu 37 15 76634064 76634064 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:76634064C>A uc002bbw.1 + 6 1046 c.968C>A c.(967-969)TCC>TAC p.S323Y NM_145805 NP_665804 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 323 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCCAGGTCTCCTTCTCCGAG 0.677 NA 13 66 1.36e-06 1.44e-06 1 0 RASGRF1 5923 broad.mit.edu 37 15 79294085 79294085 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:79294085G>A uc002beq.2 - 17 2917 c.2542C>T c.(2542-2544)CAG>TAG p.Q848* RASGRF1_uc002bep.2_Nonsense_Mutation_p.Q832*|RASGRF1_uc010blm.1_Nonsense_Mutation_p.Q757*|RASGRF1_uc002ber.3_Nonsense_Mutation_p.Q832*|RASGRF1_uc010unh.1_Nonsense_Mutation_p.Q243*|RASGRF1_uc002beo.2_Nonsense_Mutation_p.Q64* NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 850 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TCATCACTCTGGTTTTGATCA 0.308 NA 47 58 0 0 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007381 93007381 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:93007381G>C uc002bra.2 + 6 1049 c.894G>C c.(892-894)TTG>TTC p.L298F ST8SIA2_uc002brb.2_Missense_Mutation_p.L277F NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 298 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CCGGCCTCTTGATGTATACCC 0.428 NA 3 14 0 0 0 0 RUNDC2A 84127 broad.mit.edu 37 16 12145835 12145835 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:12145835G>A uc002dbw.1 + 8 942 c.880G>A c.(880-882)GAC>AAC p.D294N SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 294 ovary(1) 1 GAGCTCAGAGGACAACTCCGA 0.483 NA T CIITA PMBL|Hodgkin Lymphona| 15 52 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15833949 15833949 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:15833949C>T uc002ddy.2 - 23 3063 c.2956G>A c.(2956-2958)GAG>AAG p.E986K MYH11_uc002ddv.2_Missense_Mutation_p.E993K|MYH11_uc002ddw.2_Missense_Mutation_p.E986K|MYH11_uc002ddx.2_Missense_Mutation_p.E993K|MYH11_uc010bvg.2_Missense_Mutation_p.E818K NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 986 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 ACCAGGATCTCATCCTCCAGT 0.363 NA T CBFB AML 28 78 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15841954 15841954 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:15841954G>C uc002ddy.2 - 17 2237 c.2130C>G c.(2128-2130)ATC>ATG p.I710M MYH11_uc002ddv.2_Missense_Mutation_p.I717M|MYH11_uc002ddw.2_Missense_Mutation_p.I710M|MYH11_uc002ddx.2_Missense_Mutation_p.I717M|MYH11_uc010bvg.2_Missense_Mutation_p.I542M NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 710 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CCTGCCGGCAGATGCGAATGC 0.637 NA T CBFB AML 15 64 0 0 0 0 XYLT1 64131 broad.mit.edu 37 16 17221547 17221547 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:17221547G>A uc002dfa.2 - 10 2284 c.2199C>T c.(2197-2199)GAC>GAT p.D733D NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 733 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GCCTCCCAAAGTCACTGGGTG 0.483 NA 114 93 0 0 0 0 CDH8 1006 broad.mit.edu 37 16 61935158 61935158 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:61935158G>A uc002eog.1 - 3 724 c.472C>T c.(472-474)CAA>TAA p.Q158* NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 158 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTGATGTCTTGAACTTTAATA 0.433 NA 19 62 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 71212846 71212846 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:71212846C>T uc002ezr.2 - 4 494 c.366G>A c.(364-366)TTG>TTA p.L122L HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.L122L|HYDIN_uc010vmc.1_Silent_p.L139L|HYDIN_uc010vmd.1_Silent_p.L149L|HYDIN_uc002ezw.3_Silent_p.L139L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 122 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CATTGTTCCTCAAAATCAGTG 0.403 NA 29 89 0 0 0 0 TAT 6898 broad.mit.edu 37 16 71609874 71609874 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:71609874C>G uc002fap.2 - 3 390 c.291G>C c.(289-291)ATG>ATC p.M97I TAT_uc002faq.2_Missense_Mutation_p.M97I|TAT_uc002far.2_3'UTR NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 97 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GGGCATCTTTCATTGCCTGGG 0.488 NA 20 87 0 0 0 0 GLG1 2734 broad.mit.edu 37 16 74527006 74527006 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:74527006C>G uc002fcy.3 - 7 1133 c.1083G>C c.(1081-1083)CTG>CTC p.L361L GLG1_uc002fcx.2_Silent_p.L361L|GLG1_uc002fcw.3_Silent_p.L350L|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 361 Cys-rich GLG1 5.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CCTGGGCAATCAGCTTTTGGC 0.453 NA 22 62 0 0 0 0 MBTPS1 8720 broad.mit.edu 37 16 84089658 84089658 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr16:84089658C>T uc002fhi.2 - 22 3416 c.2914G>A c.(2914-2916)GTG>ATG p.V972M MBTPS1_uc002fhh.2_Missense_Mutation_p.V476M NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 972 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 AAGGGCCTCACTTGAGGGCGA 0.498 NA 40 32 0 0 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455427 4455427 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:4455427G>A uc002fyb.3 - 7 960 c.898C>T c.(898-900)CCA>TCA p.P300S MYBBP1A_uc002fxz.3_Missense_Mutation_p.P300S NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 300 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 CACCTGGCTGGCCAGAACTGC 0.627 NA 4 69 0 0 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606428 6606428 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:6606428G>A uc002gdj.2 - 5 665 c.577C>T c.(577-579)CTG>TTG p.L193L SLC13A5_uc010vtf.1_Silent_p.L193L|SLC13A5_uc010clq.2_Silent_p.L150L|SLC13A5_uc002gdk.2_Silent_p.L176L|SLC13A5_uc002gdl.1_Silent_p.L175L NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 193 integral to membrane citrate transmembrane transporter activity 0 TGCTGCCCCAGAGTGGGGCCT 0.632 NA 25 77 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7577106G>A uc002gim.2 - 8 1026 c.832C>T c.(832-834)CCT>TCT p.P278S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTCTCCCAGGACAGGCACAA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 32 0 0 0 0 GUCY2D 3000 broad.mit.edu 37 17 7907263 7907263 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7907263C>T uc002gjt.2 + 3 889 c.815C>T c.(814-816)TCC>TTC p.S272F NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 272 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) ACCGATGGCTCCCTGGTCTTC 0.672 NA 29 96 0 0 0 0 KRT34 3885 broad.mit.edu 37 17 39538614 39538614 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:39538614G>A uc002hwm.2 - 1 23 c.11C>T c.(10-12)GCC>GTC p.A4V NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 4 Head. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) TGGGGGCTTGGCATACAGCAT 0.433 NA 16 15 0 0 0 0 WNT3 7473 broad.mit.edu 37 17 44851102 44851102 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:44851102C>T uc002ikv.2 - 2 373 c.254G>A c.(253-255)CGG>CAG p.R85Q NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 85 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCGGCGGCCCCGGAACTGGTG 0.647 NA 34 16 0 0 0 0 RAD51C 5889 broad.mit.edu 37 17 56770070 56770070 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:56770070G>A uc002iwu.2 + 1 108 c.66G>A c.(64-66)GCG>GCA p.A22A TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Silent_p.A22A|RAD51C_uc010woa.1_Silent_p.A22A|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_Intron NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 22 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTCTCCAGCGGTGCGGGTGA 0.587 NA Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 37 16 0 0 0 0 BRIP1 83990 broad.mit.edu 37 17 59761063 59761063 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:59761063G>A uc002izk.1 - 20 3485 c.3344C>T c.(3343-3345)TCC>TTC p.S1115F NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1115 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ATTTGAAGTGGACTGTTTATC 0.353 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 44 17 0 0 0 0 RAB31 11031 broad.mit.edu 37 18 9708423 9708423 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:9708423C>G uc002kog.2 + 1 196 c.21C>G c.(19-21)CTC>CTG p.L7L NM_006868 NP_006859 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 6 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 TACGGGAGCTCAAAGTGTGCC 0.592 NA 4 18 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14513720 14513720 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:14513720C>T uc010dln.2 - 10 1928 c.1474G>A c.(1474-1476)GAG>AAG p.E492K POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 492 Potential. skin(3) 3 GTCAGAATCTCATCTTGTGAT 0.313 NA 4 36 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851748 14851748 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:14851748G>C uc010dlo.2 + 36 3628 c.3448G>C c.(3448-3450)GTT>CTT p.V1150L ANKRD30B_uc010xal.1_Missense_Mutation_p.V292L NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1235 Potential. ovary(1)|skin(1) 2 GCAGCTTAAAGTTCTGACGGC 0.373 NA 12 10 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25568547 25568547 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:25568547C>T uc002kwg.2 - 11 2141 c.1682G>A c.(1681-1683)CGA>CAA p.R561Q CDH2_uc010xbn.1_Missense_Mutation_p.R530Q NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 561 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TGGTGATTCTCGGTCCAAAAC 0.333 NA 12 20 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31324115 31324115 + Missense_Mutation SNP G G C rs144287211 by1000genomes TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:31324115G>C uc010dmg.1 + 12 4358 c.4303G>C c.(4303-4305)GAA>CAA p.E1435Q ASXL3_uc002kxq.2_Missense_Mutation_p.E1142Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GTTAAGTGCTGAAAGCTTGGA 0.488 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 176 0 0 0 0 MBP 4155 broad.mit.edu 37 18 74729142 74729142 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr18:74729142C>G uc010xfd.1 - 4 486 c.222G>C c.(220-222)AAG>AAC p.K74N MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.K74N NM_001025101 NP_001020272 P02686 MBP_HUMAN Golli-mbp isoform 1 74 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath haematopoietic_and_lymphoid_tissue(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) GCCAGGCATTCTTCGGGTCCG 0.607 NA 20 9 0 0 0 0 HMHA1 23526 broad.mit.edu 37 19 1085820 1085820 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:1085820G>A uc002lqz.1 + 23 3457 c.3226G>A c.(3226-3228)GAG>AAG p.E1076K HMHA1_uc010xgd.1_Missense_Mutation_p.E1092K|HMHA1_uc010xge.1_Missense_Mutation_p.E944K|HMHA1_uc002lra.1_Missense_Mutation_p.E916K|HMHA1_uc002lrb.1_Missense_Mutation_p.E959K|HMHA1_uc002lrc.1_Missense_Mutation_p.E711K|HMHA1_uc002lrd.1_Missense_Mutation_p.E152K|HMHA1_uc010dsd.1_Missense_Mutation_p.E182K NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 1076 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCAGTGAGGAGCAGCTGGA 0.672 NA 12 18 0 0 0 0 MEX3D 399664 broad.mit.edu 37 19 1556757 1556757 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:1556757C>T uc010dsn.2 - 2 761 c.761G>A c.(760-762)CGC>CAC p.R254H NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 254 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCTTGCTGCGCGTGGCGCG 0.706 NA 16 41 0 0 0 0 TIMM13 26517 broad.mit.edu 37 19 2427036 2427036 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:2427036G>C uc002lvx.1 - 3 542 c.198C>G c.(196-198)ATC>ATG p.I66M NM_012458 NP_036590 Q9Y5L4 TIM13_HUMAN translocase of inner mitochondrial membrane 13 66 Twin CX3C motif. protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCACATGGCGATGCACTTCT 0.706 NA 5 7 0 0 0 0 ZNF555 148254 broad.mit.edu 37 19 2853240 2853240 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:2853240G>C uc002lwo.2 + 4 1266 c.1177G>C c.(1177-1179)GAG>CAG p.E393Q ZNF555_uc002lwn.3_Missense_Mutation_p.E392Q NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGGTGGAGAGAAACCCTA 0.493 NA 11 23 0 0 0 0 NCLN 56926 broad.mit.edu 37 19 3192541 3192541 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:3192541C>T uc002lxi.2 + 2 412 c.258C>T c.(256-258)CTC>CTT p.L86L NCLN_uc002lxh.1_RNA NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 86 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGCGTGCTCATGCGGCTAC 0.697 NA 6 18 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9084208 9084208 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:9084208A>G uc002mkp.2 - 1 7811 c.7607T>C c.(7606-7608)ATT>ACT p.I2536T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2536 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCTGGTTCAATAGTTGATGC 0.507 NA 12 29 0 0 0 0 ZNF560 147741 broad.mit.edu 37 19 9578107 9578107 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:9578107G>C uc002mlp.1 - 10 1726 c.1516C>G c.(1516-1518)CAT>GAT p.H506D ZNF560_uc010dwr.1_Missense_Mutation_p.H400D NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 506 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GTTCTCAAATGAGCAAAAAGA 0.413 NA 13 93 0 0 0 0 ZNF433 163059 broad.mit.edu 37 19 12126809 12126809 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:12126809G>C uc002msy.1 - 4 1044 c.873C>G c.(871-873)TTC>TTG p.F291L uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.F256L NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 291 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGAAGAGCTGAAGGCTTTCC 0.433 NA 13 37 0 0 0 0 OR7A10 390892 broad.mit.edu 37 19 14952228 14952228 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:14952228C>G uc002mzx.1 - 1 462 c.462G>C c.(460-462)CTG>CTC p.L154L NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ACATGGAATTCAGAACACTCA 0.458 NA 4 64 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291928 15291928 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:15291928G>T uc002nan.2 - 18 2914 c.2838C>A c.(2836-2838)TTC>TTA p.F946L NOTCH3_uc002nao.1_Missense_Mutation_p.F894L NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 946 Extracellular (Potential).|EGF-like 24. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) acaggcagctgaacgagttca 0.274 NA 4 14 0.00024832 0.000257691 1 0 CPAMD8 27151 broad.mit.edu 37 19 17111256 17111256 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:17111256C>G uc002nfb.2 - 10 1008 c.976G>C c.(976-978)GAG>CAG p.E326Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 279 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CGTCCCACCTCGTGGCTGTAG 0.517 NA 6 19 0 0 0 0 ZNF100 163227 broad.mit.edu 37 19 21948580 21948580 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:21948580C>T uc002nqi.2 - 2 211 c.12G>A c.(10-12)CCG>CCA p.P4P NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCCATACCTCGGGTCATCCT 0.483 NA 18 46 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156005 22156005 + Missense_Mutation SNP A A T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:22156005A>T uc002nqp.2 - 5 1680 c.1531T>A c.(1531-1533)TGT>AGT p.C511S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CATTCTTCACATTTGTAGGGT 0.373 NA 27 23 0 0 0 0 NUDT19 390916 broad.mit.edu 37 19 33200187 33200187 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:33200187G>A uc010edf.2 + 2 811 c.811G>A c.(811-813)GCC>ACC p.A271T NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 271 mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) TGCAAACTTTGCCTCTCTCTC 0.453 NA 52 175 0 0 0 0 RHPN2 85415 broad.mit.edu 37 19 33493179 33493179 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:33493179G>C uc002nuf.2 - 9 1145 c.1079C>G c.(1078-1080)ACT>AGT p.T360S RHPN2_uc010xro.1_Missense_Mutation_p.T209S|RHPN2_uc002nue.2_Missense_Mutation_p.T90S NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 360 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) GAGGATGGCAGTGAAGTAGTG 0.647 NA 20 37 0 0 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103307 39103307 + Silent SNP G G A rs56029962 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:39103307G>A uc002oix.1 - 9 717 c.609C>T c.(607-609)ATC>ATT p.I203I MAP4K1_uc002oiy.1_Silent_p.I203I|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 203 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGATGGCCGTGATGCCCAGGG 0.627 NA 26 70 0 0 0 0 PSG7 5676 broad.mit.edu 37 19 43433864 43433864 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:43433864G>T uc002ovl.3 - 4 541 c.439C>A c.(439-441)CCC>ACC p.P147T PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P25T NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 147 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) GAGGGTTTGGGAGTCTCCACT 0.512 NA 61 13 1.44e-24 1.56e-24 1 0 IRGC 56269 broad.mit.edu 37 19 44223308 44223308 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:44223308G>A uc002oxh.2 + 2 745 c.598G>A c.(598-600)GAG>AAG p.E200K NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 200 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CCACTGTGCCGAGCGGCTGCG 0.701 NA 14 54 0 0 0 0 ZFP112 7771 broad.mit.edu 37 19 44831903 44831903 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:44831903G>A uc010ejj.2 - 5 2538 c.2425C>T c.(2425-2427)CAG>TAG p.Q809* ZFP112_uc002ozc.3_Nonsense_Mutation_p.Q803*|ZFP112_uc010xwy.1_Nonsense_Mutation_p.Q826*|ZFP112_uc010xwz.1_Nonsense_Mutation_p.Q808* NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 809 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TTACCACACTGTTCACATTTA 0.458 NA 37 100 0 0 0 0 CKM 1158 broad.mit.edu 37 19 45818846 45818846 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:45818846C>A uc002pbd.2 - 4 432 c.358G>T c.(358-360)GAC>TAC p.D120Y NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 120 creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GGGTCCAGGTCGTCTCCACCC 0.677 NA 10 25 2.18e-05 2.28e-05 1 0 DBP 1628 broad.mit.edu 37 19 49140149 49140149 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49140149G>A uc002pjx.3 - 1 491 c.103C>T c.(103-105)CTG>TTG p.L35L SEC1_uc010xzv.1_5'Flank|SEC1_uc002pka.2_5'Flank|SEC1_uc010xzw.1_5'Flank|SEC1_uc010ema.2_5'Flank|DBP_uc002pjy.2_Silent_p.L35L|DBP_uc010elz.1_Silent_p.L35L NM_001352 NP_001343 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) 35 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) GTCCCCTGCAGAAGGCTCCGC 0.701 NA 3 10 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49484831 49484831 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49484831G>T uc002plp.2 - 8 1366 c.1125C>A c.(1123-1125)TTC>TTA p.F375L GYS1_uc010xzy.1_Missense_Mutation_p.F8L|GYS1_uc010emm.2_Missense_Mutation_p.F311L|GYS1_uc010xzz.1_Missense_Mutation_p.F295L|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 375 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TTTCCACGTTGAAATTGTTGG 0.587 NA 4 33 0.00198382 0.00203521 1 0 SLC17A7 57030 broad.mit.edu 37 19 49935905 49935905 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:49935905C>T uc002pnp.2 - 9 1193 c.1021G>A c.(1021-1023)GGC>AGC p.G341S SLC17A7_uc002pno.2_Missense_Mutation_p.G40S NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 341 Extracellular (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GACACCAGGCCTACCTGCGGG 0.692 NA 18 13 0 0 0 0 TSKS 60385 broad.mit.edu 37 19 50243129 50243129 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:50243129G>A uc002ppm.2 - 11 1694 c.1683C>T c.(1681-1683)CTC>CTT p.L561L NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 561 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCAGGTTGCTGAGATGATCGT 0.587 NA 31 75 0 0 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034048 52034048 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:52034048G>A uc002pwy.2 - 3 755 c.593C>T c.(592-594)TCG>TTG p.S198L SIGLEC6_uc002pwz.2_Missense_Mutation_p.S198L|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S198L|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S151L|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S187L|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S176L|SIGLEC6_uc010epb.1_Missense_Mutation_p.S151L|SIGLEC6_uc010epa.1_Missense_Mutation_p.S187L NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 198 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTGAGCACCGAGGACTGGGT 0.652 NA 19 66 0 0 0 0 HAS1 3036 broad.mit.edu 37 19 52217097 52217097 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:52217097G>A uc002pxo.1 - 5 1355 c.1320C>T c.(1318-1320)GGC>GGT p.G440G HAS1_uc010epc.1_Silent_p.G40G|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.G447G|HAS1_uc002pxp.1_Silent_p.G439G NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 440 Helical; Name=4; (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCAGTGCCACGCCCTGCACGC 0.697 NA 7 13 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54409999 54409999 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:54409999G>A uc002qcq.1 + 18 2226 c.1944G>A c.(1942-1944)ACG>ACA p.T648T PRKCG_uc010yeg.1_Silent_p.T648T|PRKCG_uc010yeh.1_Silent_p.T499T NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 648 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) AGTTCTTCACGCGGGCGGCGC 0.647 NA OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 90 0 0 0 0 NDUFA3 4696 broad.mit.edu 37 19 54606193 54606193 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:54606193G>A uc002qde.2 + 1 34 c.7G>A c.(7-9)GCG>ACG p.A3T OSCAR_uc002qcy.2_5'Flank|OSCAR_uc002qcz.2_5'Flank|OSCAR_uc002qda.2_5'Flank|OSCAR_uc002qdb.2_5'Flank|OSCAR_uc010erc.2_5'Flank|OSCAR_uc002qdc.2_5'Flank|OSCAR_uc002qdd.2_5'Flank|NDUFA3_uc002qdf.2_RNA NM_004542 NP_004533 O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 3 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) AAAGATGGCTGCGAGTAAGTG 0.692 NA OREG0003682|OREG0003632 type=REGULATORY REGION|Gene=NDUFA3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=BC035023|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 11 0 0 0 0 ZNF471 57573 broad.mit.edu 37 19 57035959 57035959 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57035959G>A uc002qnh.2 + 5 656 c.523G>A c.(523-525)GAG>AAG p.E175K NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AAACATAGAAGAGAGTATTTA 0.284 NA 3 28 0 0 0 0 ZNF470 388566 broad.mit.edu 37 19 57088415 57088415 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57088415G>C uc002qnl.3 + 6 1294 c.618G>C c.(616-618)AAG>AAC p.K206N ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATACAGATAAGAAAAGCTTAA 0.289 NA 23 19 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175000 57175000 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr19:57175000G>T uc010ygo.1 - 2 1633 c.1633C>A c.(1633-1635)CAA>AAA p.Q545K ZNF835_uc010ygn.1_Missense_Mutation_p.Q523K NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CACCCCTGTTGACAGGTTTCT 0.507 NA 18 63 9.17e-09 9.76e-09 1 0 RNASEH1 246243 broad.mit.edu 37 2 3599789 3599789 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:3599789C>T uc002qxt.2 - 3 444 c.354G>A c.(352-354)ATG>ATA p.M118I RNASEH1_uc002qxs.2_Missense_Mutation_p.M1I NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 118 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) CGCTCGGCTTCATGTGCTTTG 0.517 NA 15 38 0 0 0 0 GRHL1 29841 broad.mit.edu 37 2 10136059 10136059 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:10136059C>T uc002raa.2 + 13 1723 c.1552C>T c.(1552-1554)CCT>TCT p.P518S GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.P329S|GRHL1_uc010yjb.1_Missense_Mutation_p.P367S NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 518 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TGCTGTCCCTCCTTCTACCAA 0.458 NA 42 92 0 0 0 0 MFSD2B 388931 broad.mit.edu 37 2 24247130 24247130 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:24247130G>T uc002reo.1 + 13 1493 c.1479G>T c.(1477-1479)CTG>CTT p.L493L NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 493 transport integral to membrane ovary(2) 2 CCAGCCGGCTGAGCCTTCGGA 0.647 NA 7 1 0.000157383 0.000163837 1 0 SLC30A6 55676 broad.mit.edu 37 2 32445600 32445600 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:32445600C>G uc002roe.1 + 14 1241 c.1204C>G c.(1204-1206)CTA>GTA p.L402V SLC30A6_uc002rof.1_Missense_Mutation_p.L442V|SLC30A6_uc010ymw.1_Missense_Mutation_p.L373V|SLC30A6_uc010ezr.1_Missense_Mutation_p.L379V|SLC30A6_uc002rog.1_Missense_Mutation_p.L205V|SLC30A6_uc010ezs.1_Missense_Mutation_p.L328V|SLC30A6_uc002roh.1_Missense_Mutation_p.L205V NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 402 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AGTTATTCTTCTAAACACACA 0.418 NA 82 24 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32688441 32688441 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:32688441C>T uc010ezu.2 + 24 5067 c.4933C>T c.(4933-4935)CAG>TAG p.Q1645* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1645 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTTGAAGCTTCAGCAACAGGT 0.423 NA 5 18 0 0 0 0 PREPL 9581 broad.mit.edu 37 2 44565513 44565513 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:44565513C>T uc002ruf.2 - 7 1167 c.1132G>A c.(1132-1134)GAT>AAT p.D378N PREPL_uc002rug.2_Missense_Mutation_p.D378N|PREPL_uc002ruh.2_Intron|PREPL_uc010fax.2_Missense_Mutation_p.D378N|PREPL_uc002rui.3_Missense_Mutation_p.D289N|PREPL_uc002ruj.1_Missense_Mutation_p.D289N|PREPL_uc002ruk.1_Missense_Mutation_p.D378N NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 378 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTGAATCATCAGCCAGACCA 0.328 NA 19 9 0 0 0 0 HK2 3099 broad.mit.edu 37 2 75115157 75115157 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:75115157G>C uc002snd.2 + 16 4273 c.2347G>C c.(2347-2349)GAA>CAA p.E783Q NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 783 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GGGCATCTTTGAAACCAAGTT 0.512 NA 17 58 0 0 0 0 NCK2 8440 broad.mit.edu 37 2 106498397 106498397 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:106498397C>T uc002tdg.2 + 4 1282 c.840C>T c.(838-840)TTC>TTT p.F280F NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.F280F NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 280 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GCGGGCGCTTCGCGGGCAGAG 0.672 NA 10 38 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128354096 128354096 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:128354096C>T uc002top.2 + 19 2357 c.2304C>T c.(2302-2304)CTC>CTT p.L768L NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 768 IQ 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GAGCGGCGCTCAGCATCCAGA 0.627 NA 3 12 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135738606 135738606 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:135738606G>T uc002tue.1 - 9 3736 c.3705C>A c.(3703-3705)GCC>GCA p.A1235A YSK4_uc002tuf.1_Silent_p.A417A|YSK4_uc010fnc.1_Silent_p.A369A|YSK4_uc010fnd.1_Silent_p.A1122A|YSK4_uc010zbg.1_Silent_p.A367A|YSK4_uc002tuh.3_Silent_p.A963A|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1235 Protein kinase. A -> V (in Ref. 2; BAB15538). ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TGACTTCTGGGGCCATCCAAT 0.502 NA 13 37 4.38e-07 4.64e-07 1 0 LRP1B 53353 broad.mit.edu 37 2 141771238 141771238 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:141771238T>C uc002tvj.1 - 14 3239 c.2267A>G c.(2266-2268)TAT>TGT p.Y756C LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 756 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCATTCATATAATCAGTCCA 0.388 NA TSP Lung(27;0.18) 45 52 0 0 0 0 DPP4 1803 broad.mit.edu 37 2 162865118 162865118 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:162865118G>C uc002ubz.2 - 22 2502 c.1941C>G c.(1939-1941)TTC>TTG p.F647L DPP4_uc010fpb.2_Missense_Mutation_p.F323L NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 647 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TTCCACACTTGAACACGCCAC 0.468 NA 16 48 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163128753 163128753 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:163128753C>G uc002uce.2 - 13 2821 c.2599G>C c.(2599-2601)GAG>CAG p.E867Q NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 867 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GCATACTCCTCTGGTTTCATA 0.378 NA 6 19 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163144765 163144765 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:163144765G>A uc002uce.2 - 5 1197 c.975C>T c.(973-975)ATC>ATT p.I325I NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 325 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GGCAGATGATGATATTCTTCC 0.493 NA 27 66 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165984368 165984368 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:165984368C>G uc002ucx.2 - 18 3658 c.3166G>C c.(3166-3168)GAA>CAA p.E1056Q SCN3A_uc002ucy.2_Missense_Mutation_p.E1007Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E1007Q|SCN3A_uc002uda.1_Missense_Mutation_p.E876Q|SCN3A_uc002udb.1_Missense_Mutation_p.E876Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1056 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTGCTTATTTCAATTCCAGTA 0.373 NA 16 58 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166901607 166901607 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:166901607G>A uc010zcz.1 - 10 1626 c.1608C>T c.(1606-1608)TTC>TTT p.F536F SCN1A_uc002udo.3_Silent_p.F405F|SCN1A_uc010fpk.2_Silent_p.F405F NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 536 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTTCAATGGAGAAGCGAAAAC 0.428 NA 13 104 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168107923 168107923 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:168107923G>C uc002udx.2 + 8 10039 c.10021G>C c.(10021-10023)GAG>CAG p.E3341Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E3166Q|XIRP2_uc010fpq.2_Missense_Mutation_p.E3119Q|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3166 E -> G (in Ref. 8; CAD91141). actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGGGAATTTGAGCATGGCCC 0.393 NA 19 67 0 0 0 0 TLK1 9874 broad.mit.edu 37 2 171854298 171854298 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:171854298T>C uc002ugn.2 - 19 2412 c.1940A>G c.(1939-1941)GAG>GGG p.E647G TLK1_uc002ugo.2_Missense_Mutation_p.E668G|TLK1_uc002ugp.2_Missense_Mutation_p.E599G|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.E551G NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 647 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 CTTTGGTGGCTCTTTTCCAAC 0.373 NA 94 94 0 0 0 0 SCRN3 79634 broad.mit.edu 37 2 175264800 175264800 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:175264800G>A uc002uiq.2 + 3 398 c.310G>A c.(310-312)GAA>AAA p.E104K SCRN3_uc010zen.1_Missense_Mutation_p.E97K|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 104 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) AGTTTGTGATGAAGAAGCACT 0.408 NA 38 126 0 0 0 0 CHN1 1123 broad.mit.edu 37 2 175666502 175666502 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:175666502C>T uc002uji.2 - 12 1671 c.1141G>A c.(1141-1143)GAA>AAA p.E381K CHN1_uc010zeq.1_Missense_Mutation_p.E355K|CHN1_uc002ujj.2_Missense_Mutation_p.E156K|CHN1_uc002ujg.2_Missense_Mutation_p.E256K NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 381 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) TTCAGTGCTTCATGAAGGGTT 0.408 NA T TAF15 extraskeletal myxoid chondrosarcoma 30 107 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179599449 179599449 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:179599449C>T uc010zfg.1 - 48 11694 c.11470G>A c.(11470-11472)GAA>AAA p.E3824K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E485K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4751 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) ATAACTATTTCAGTACTGCAG 0.363 NA 19 80 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179640236 179640236 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:179640236C>T uc010zfg.1 - 28 6579 c.6355G>A c.(6355-6357)GAA>AAA p.E2119K TTN_uc010zfh.1_Missense_Mutation_p.E2073K|TTN_uc010zfi.1_Missense_Mutation_p.E2073K|TTN_uc010zfj.1_Missense_Mutation_p.E2073K|TTN_uc002unb.2_Missense_Mutation_p.E2119K|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2119 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) TCAGACCGTTCAATTTTGACA 0.493 NA 9 22 0 0 0 0 CERKL 375298 broad.mit.edu 37 2 182468711 182468711 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:182468711G>T uc002unx.2 - 2 435 c.334C>A c.(334-336)CAG>AAG p.Q112K CERKL_uc002uny.2_Missense_Mutation_p.Q112K|CERKL_uc010zfm.1_Missense_Mutation_p.Q112K|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.Q112K|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.Q112K|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Missense_Mutation_p.Q112K NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 112 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) CCACTTCTCTGCTGTTTAACA 0.318 NA 17 11 1.57e-10 1.68e-10 1 0 SSFA2 6744 broad.mit.edu 37 2 182767020 182767020 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:182767020G>C uc002uoi.2 + 8 1562 c.1240G>C c.(1240-1242)GAA>CAA p.E414Q SSFA2_uc002uoh.2_Missense_Mutation_p.E414Q|SSFA2_uc002uoj.2_Missense_Mutation_p.E414Q|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.E261Q|SSFA2_uc002uol.2_Missense_Mutation_p.E261Q NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 414 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGGTATTGTAGAATCCAAATT 0.368 NA 13 50 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196673414 196673414 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:196673414C>T uc002utj.3 - 53 10176 c.10075G>A c.(10075-10077)GAT>AAT p.D3359N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3359 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ACCAAACTATCATATACTTTC 0.323 NA 21 94 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196729233 196729233 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:196729233C>G uc002utj.3 - 41 7247 c.7146G>C c.(7144-7146)GTG>GTC p.V2382V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2382 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCCTTAAGATCACTTTTAAAT 0.398 NA 16 71 0 0 0 0 SF3B1 23451 broad.mit.edu 37 2 198265441 198265441 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:198265441C>T uc002uue.2 - 18 2764 c.2716G>A c.(2716-2718)GAG>AAG p.E906K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 906 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTCATTACCTCTGTAGTCTGT 0.308 NA 16 77 0 0 0 0 CTLA4 1493 broad.mit.edu 37 2 204732684 204732684 + Nonsense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:204732684C>T uc002vak.1 + 1 176 c.19C>T c.(19-21)CAG>TAG p.Q7* CTLA4_uc002val.1_Nonsense_Mutation_p.Q7*|CTLA4_uc010fty.1_Nonsense_Mutation_p.Q7*|CTLA4_uc010ftz.1_RNA NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 7 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) CCTTGGATTTCAGCGGCACAA 0.498 NA 14 18 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228159768 228159768 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:228159768G>A uc002vom.1 + 40 3669 c.3507G>A c.(3505-3507)AAG>AAA p.K1169K COL4A3_uc002von.1_Silent_p.K1169K|COL4A3_uc002voo.1_Silent_p.K1169K|COL4A3_uc002vop.1_Silent_p.K1169K|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1169 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCGGAGAAAAGGGAGAAACGG 0.408 NA 54 25 0 0 0 0 SP100 6672 broad.mit.edu 37 2 231368918 231368918 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:231368918G>C uc002vqt.2 + 21 1924 c.1783G>C c.(1783-1785)GAT>CAT p.D595H SP100_uc002vqs.2_Missense_Mutation_p.D595H|SP100_uc002vqu.1_Missense_Mutation_p.D595H|SP100_uc010fxp.1_5'UTR NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 595 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AATTCCCAAAGATGAAAATAT 0.403 NA 20 50 0 0 0 0 ARMC9 80210 broad.mit.edu 37 2 232143099 232143099 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:232143099G>A uc002vrq.3 + 16 1591 c.1479G>A c.(1477-1479)AAG>AAA p.K493K ARMC9_uc002vrp.3_Silent_p.K493K|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 493 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CCATAGGGAAGAACATGTGTG 0.363 NA 27 82 0 0 0 0 HDAC4 9759 broad.mit.edu 37 2 239990186 239990186 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr2:239990186T>C uc002vyk.3 - 23 3645 c.2853A>G c.(2851-2853)AGA>AGG p.R951R HDAC4_uc010fyy.2_Silent_p.R908R NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 951 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACCACTTACATCTGGCGGAGA 0.572 NA 4 22 0 0 0 0 CDC25B 994 broad.mit.edu 37 20 3782998 3782998 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:3782998G>A uc002wjn.2 + 11 1947 c.1169G>A c.(1168-1170)CGA>CAA p.R390Q CDC25B_uc010zqk.1_Missense_Mutation_p.R326Q|CDC25B_uc010zql.1_Missense_Mutation_p.R312Q|CDC25B_uc010zqm.1_Missense_Mutation_p.R299Q|CDC25B_uc002wjl.2_Missense_Mutation_p.R278Q|CDC25B_uc002wjm.2_Missense_Mutation_p.R278Q|CDC25B_uc002wjo.2_Missense_Mutation_p.R376Q|CDC25B_uc002wjp.2_Missense_Mutation_p.R349Q|CDC25B_uc002wjq.2_Missense_Mutation_p.R190Q|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 390 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 AGTGACCACCGAGAGCTGATT 0.567 NA 13 22 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14306766 14306766 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:14306766C>G uc002wov.1 - 3 1854 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.E463Q NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 463 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) ACCAAGTACTCACTGCGTTCC 0.468 NA 16 32 0 0 0 0 XKR7 343702 broad.mit.edu 37 20 30584930 30584930 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:30584930G>A uc002wxe.2 + 3 1584 c.1410G>A c.(1408-1410)ACG>ACA p.T470T NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 470 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACGCCATCACGAGTCCCCCCA 0.682 NA 14 25 0 0 0 0 MAPRE1 22919 broad.mit.edu 37 20 31413815 31413815 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:31413815C>G uc002wyh.2 + 2 221 c.82C>G c.(82-84)CTG>GTG p.L28V NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 28 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 CAATGAGTCTCTGCAGTTGAA 0.433 NA 43 73 0 0 0 0 BPIL1 80341 broad.mit.edu 37 20 31607532 31607532 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:31607532C>T uc002wyj.2 + 11 1250 c.1056C>T c.(1054-1056)TTC>TTT p.F352F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 352 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 ACTCGGCTTTCCAGTCCCTCT 0.537 NA 6 27 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40980903 40980903 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:40980903G>A uc002xkg.2 - 10 1767 c.1583C>T c.(1582-1584)TCG>TTG p.S528L PTPRT_uc010ggj.2_Missense_Mutation_p.S528L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 528 Extracellular (Potential).|Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGGTCCAGCGAGCCGACAGC 0.532 NA 10 48 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40980908 40980908 + Silent SNP G G T rs9941770 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:40980908G>T uc002xkg.2 - 10 1762 c.1578C>A c.(1576-1578)GTC>GTA p.V526V PTPRT_uc010ggj.2_Silent_p.V526V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 526 Extracellular (Potential).|Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCAGCGAGCCGACAGCCTTGT 0.522 NA 10 48 1.05e-09 1.12e-09 1 0 SYCP2 10388 broad.mit.edu 37 20 58441392 58441392 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:58441392C>G uc002yaz.2 - 40 4415 c.4276G>C c.(4276-4278)GAA>CAA p.E1426Q NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1426 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GAATCTTTTTCAAAATTCTCC 0.229 NA 14 60 0 0 0 0 CDH26 60437 broad.mit.edu 37 20 58547156 58547156 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:58547156G>T uc002ybe.2 + 4 671 c.371G>T c.(370-372)CGA>CTA p.R124L CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 124 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCTGTCGATCGAGAAATGACA 0.383 NA 15 49 3.53e-06 3.72e-06 1 0 DIDO1 11083 broad.mit.edu 37 20 61511034 61511034 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:61511034C>G uc002ydr.1 - 16 6538 c.6274G>C c.(6274-6276)GAC>CAC p.D2092H DIDO1_uc002yds.1_Missense_Mutation_p.D2092H NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 2092 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GGCCCCACGTCAAACCGCTCT 0.612 NA 42 270 0 0 0 0 ARFRP1 10139 broad.mit.edu 37 20 62338354 62338354 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:62338354C>G uc002yga.2 - 1 657 c.90G>C c.(88-90)AAG>AAC p.K30N ARFRP1_uc002ygc.2_Missense_Mutation_p.K30N|ARFRP1_uc002ygh.3_Missense_Mutation_p.K30N|ARFRP1_uc011abf.1_Missense_Mutation_p.K30N|ARFRP1_uc011abg.1_Missense_Mutation_p.K30N|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.K30N|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 30 GTP (By similarity). small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CACTCACCGTCTTCCCAGCAT 0.607 NA 7 22 0 0 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421736 62421736 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:62421736G>C uc002ygv.1 - 2 576 c.375C>G c.(373-375)ATC>ATG p.I125M ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCGCCGCCTTGATGAAGTCGT 0.612 NA 5 22 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10951399 10951400 + Missense_Mutation DNP CC CC TT TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:10951399_10951400CC>TT uc002yip.1 - 10 680_681 c.312_313GG>AA c.(310-315)CTGGAT>CTAAAT p.D105N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D87N|TPTE_uc002yir.1_Missense_Mutation_p.D67N|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 105 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGTGACATCCAGTAAGACCA 0.322 NA 18 113 0 0 0 0 KRTAP22-1 337979 broad.mit.edu 37 21 31973557 31973557 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:31973557G>A uc011add.1 + 1 118 c.118G>A c.(118-120)GAA>AAA p.E40K KRTAP6-2_uc011adc.1_5'Flank NM_181620 NP_853651 Q3MIV0 KR221_HUMAN keratin associated protein 22-1 40 intermediate filament 0 ATGGTGTTATGAAAGATCTTG 0.483 NA 37 155 0 0 0 0 SIM2 6493 broad.mit.edu 37 21 38072060 38072060 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:38072060C>G uc002yvr.2 + 1 70 c.14C>G c.(13-15)TCC>TGC p.S5C SIM2_uc002yvp.2_Missense_Mutation_p.S5C|SIM2_uc002yvq.2_Missense_Mutation_p.S5C NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 5 Basic motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 AAGGAGAAGTCCAAGAATGCG 0.662 NA 3 15 0 0 0 0 AGPAT3 56894 broad.mit.edu 37 21 45387862 45387862 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr21:45387862G>A uc002zdv.2 + 4 436 c.214G>A c.(214-216)GAG>AAG p.E72K AGPAT3_uc002zdw.2_Missense_Mutation_p.E72K|AGPAT3_uc002zdx.2_Missense_Mutation_p.E159K|AGPAT3_uc002zdy.2_Missense_Mutation_p.E10K NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 72 Cytoplasmic (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GTCCTGCACGGAGTGTACACT 0.612 NA 11 22 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24563212 24563212 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:24563212G>A uc002zzi.1 + 32 5740 c.5613G>A c.(5611-5613)CAG>CAA p.Q1871Q CABIN1_uc002zzj.1_Silent_p.Q1792Q|CABIN1_uc002zzl.1_Silent_p.Q1871Q|CABIN1_uc002zzm.1_Silent_p.Q296Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1871 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGCAGGGCCAGAAGGGTGTGG 0.617 NA 3 43 0 0 0 0 BPIL2 254240 broad.mit.edu 37 22 32831730 32831730 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:32831730G>A uc003amn.2 - 8 885 c.885C>T c.(883-885)TTC>TTT p.F295F BPIL2_uc010gwo.2_Silent_p.F109F|BPIL2_uc011amb.1_Silent_p.F19F NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 295 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 CCCCAGCTGTGAAATGAGCAA 0.458 NA 17 19 0 0 0 0 NOL12 79159 broad.mit.edu 37 22 38084953 38084953 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:38084953A>G uc003atp.2 + 4 391 c.335A>G c.(334-336)GAC>GGC p.D112G NOL12_uc011anm.1_Missense_Mutation_p.D112G|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR NM_024313 NP_077289 Q9UGY1 NOL12_HUMAN nucleolar protein 12 112 nucleolus rRNA binding 0 Melanoma(58;0.0574) ACCATCAGTGACCTGGACCTC 0.647 NA 32 109 0 0 0 0 MKL1 57591 broad.mit.edu 37 22 40816946 40816946 + Silent SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:40816946G>T uc003ayv.1 - 7 993 c.786C>A c.(784-786)ATC>ATA p.I262I MKL1_uc003ayw.1_Silent_p.I262I|MKL1_uc010gye.1_Silent_p.I262I|MKL1_uc010gyf.1_Silent_p.I212I NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 262 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCTGCTGCAGGATCTTGGCGT 0.602 NA T RBM15 acute megakaryocytic leukemia 34 15 1.27e-14 1.37e-14 1 0 MKL1 57591 broad.mit.edu 37 22 40816975 40816975 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:40816975G>A uc003ayv.1 - 7 964 c.757C>T c.(757-759)CCC>TCC p.P253S MKL1_uc003ayw.1_Missense_Mutation_p.P253S|MKL1_uc010gye.1_Missense_Mutation_p.P253S|MKL1_uc010gyf.1_Missense_Mutation_p.P203S NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 253 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TCCATGGGGGGTGCCCCCCTG 0.592 NA T RBM15 acute megakaryocytic leukemia 32 25 0 0 0 0 EP300 2033 broad.mit.edu 37 22 41573260 41573260 + Missense_Mutation SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:41573260T>C uc003azl.3 + 31 5940 c.5545T>C c.(5545-5547)TCC>CCC p.S1849P NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1849 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 GGGCCTCCCTTCCCCCACTCC 0.637 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 3 53 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50904631 50904631 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr22:50904631G>A uc003blh.2 - 8 1040 c.845C>T c.(844-846)ACG>ATG p.T282M SBF1_uc011arx.1_Translation_Start_Site|SBF1_uc003bli.2_Missense_Mutation_p.T283M NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 282 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GATGAAGGGCGTGGGTGTGCT 0.652 NA 20 42 0 0 0 0 CNTN4 152330 broad.mit.edu 37 3 3067795 3067795 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:3067795G>A uc003bpc.2 + 14 1717 c.1496G>A c.(1495-1497)AGG>AAG p.R499K CNTN4_uc003bpb.1_Missense_Mutation_p.R171K|CNTN4_uc003bpd.1_Missense_Mutation_p.R499K|CNTN4_uc003bpe.2_Missense_Mutation_p.R171K|CNTN4_uc003bpf.2_Missense_Mutation_p.R171K NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 499 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GATCCAACAAGGGTAATGGTA 0.418 NA 5 11 0 0 0 0 CRELD1 78987 broad.mit.edu 37 3 9979744 9979744 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:9979744C>T uc003bug.2 + 5 532 c.414C>T c.(412-414)TCC>TCT p.S138S CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.S138S|CRELD1_uc003buh.2_Silent_p.S138S|CRELD1_uc003bui.2_Silent_p.S138S|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 138 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 GCTCAGATTCCCTGAAGCTCT 0.592 NA 19 5 0 0 0 0 BTD 686 broad.mit.edu 37 3 15677117 15677117 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:15677117C>T uc003cah.2 + 2 334 c.231C>T c.(229-231)ATC>ATT p.I77I BTD_uc011avv.1_Silent_p.I79I|BTD_uc011avw.1_Silent_p.I79I|BTD_uc011avx.1_Silent_p.I57I NM_000060 NP_000051 P43251 BTD_HUMAN biotinidase precursor 77 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity 0 TGGCTCTCATCAGCCGCCAAG 0.542 NA 30 54 0 0 0 0 TOP2B 7155 broad.mit.edu 37 3 25666199 25666199 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:25666199C>T uc011awn.1 - 19 2363 c.2320G>A c.(2320-2322)GAG>AAG p.E774K TOP2B_uc003cdj.2_Missense_Mutation_p.E769K NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 774 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GCCGACATCTCAGCAACAGAG 0.363 NA 4 14 0 0 0 0 NBEAL2 23218 broad.mit.edu 37 3 47030591 47030591 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:47030591G>C uc003cqp.2 + 4 465 c.286G>C c.(286-288)GAG>CAG p.E96Q NBEAL2_uc003cqq.1_Missense_Mutation_p.E89Q NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 96 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGAGAACATAGAGGCAGGCCG 0.597 NA 8 10 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 55984542 55984542 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:55984542G>A uc003dhr.1 - 13 2570 c.2314C>T c.(2314-2316)CAA>TAA p.Q772* ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Nonsense_Mutation_p.Q251* NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 772 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCCAACTGTTGATTGTGCTTG 0.433 NA 14 30 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74535745 74535745 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:74535745C>T uc003dpm.1 - 3 300 c.220G>A c.(220-222)GAA>AAA p.E74K NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 74 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TAACGATGTTCCATACTCATA 0.363 NA 16 32 0 0 0 0 LSAMP 4045 broad.mit.edu 37 3 115560764 115560764 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:115560764C>T uc003ebt.2 - 6 1347 c.847G>A c.(847-849)GAG>AAG p.E283K LSAMP_uc011bis.1_Missense_Mutation_p.E283K NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 283 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CCGTAGTGCTCCTCAGTGACG 0.507 NA 10 34 0 0 0 0 KTELC1 56983 broad.mit.edu 37 3 119198980 119198980 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:119198980G>T uc003ecm.2 + 5 623 c.539G>T c.(538-540)GGT>GTT p.G180V KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.G21V NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 180 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) TATCCTACAGGTCTTGGACGG 0.418 NA 30 15 1.31e-18 1.42e-18 1 0 SEC61A1 29927 broad.mit.edu 37 3 127774526 127774526 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:127774526T>A uc003ekb.2 + 4 336 c.152T>A c.(151-153)TTT>TAT p.F51Y SEC61A1_uc003ekc.2_Translation_Start_Site|SEC61A1_uc003ekd.2_Intron NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 51 Helical; (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 ATTCCCCTGTTTGGGATCATG 0.473 NA 31 109 0 0 0 0 COPB2 9276 broad.mit.edu 37 3 139093334 139093334 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:139093334C>T uc003etf.3 - 7 878 c.748G>A c.(748-750)GAT>AAT p.D250N COPB2_uc011bmv.1_Missense_Mutation_p.D221N|COPB2_uc010hui.2_Missense_Mutation_p.D221N|COPB2_uc011bmw.1_Missense_Mutation_p.D250N NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 250 WD 6. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 AACTTACCATCTTCTGAACCT 0.403 NA 30 70 0 0 0 0 PLSCR4 57088 broad.mit.edu 37 3 145918834 145918834 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:145918834C>G uc010huy.2 - 5 714 c.385G>C c.(385-387)GAG>CAG p.E129Q PLSCR4_uc010huz.2_Missense_Mutation_p.E129Q|PLSCR4_uc003evt.3_Missense_Mutation_p.E129Q|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 129 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 TCCAGAGGCTCAAAATGCTGA 0.318 NA 8 39 0 0 0 0 MME 4311 broad.mit.edu 37 3 154834751 154834751 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:154834751G>A uc010hvr.1 + 7 841 c.630G>A c.(628-630)AAG>AAA p.K210K MME_uc003fab.1_Silent_p.K210K|MME_uc003fac.1_Silent_p.K210K|MME_uc003fad.1_Silent_p.K210K|MME_uc003fae.1_Silent_p.K210K NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 210 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTGATGATAAGAATTCTGTGA 0.299 NA 7 29 0 0 0 0 VEPH1 79674 broad.mit.edu 37 3 156978935 156978935 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:156978935G>C uc003fbj.1 - 14 2807 c.2490C>G c.(2488-2490)ACC>ACG p.T830T VEPH1_uc003fbk.1_Silent_p.T830T|VEPH1_uc010hvu.1_Silent_p.T785T NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 830 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACAGATATGTGGTTACTTCTC 0.408 NA 14 74 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171323140 171323140 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:171323140G>C uc003fhs.2 - 26 3065 c.2949C>G c.(2947-2949)TTC>TTG p.F983L PLD1_uc003fht.2_Missense_Mutation_p.F945L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 983 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACACCTCCTTGAAGAATTTGT 0.443 NA 33 95 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 182923663 182923663 + Splice_Site SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:182923663C>T uc003fli.1 - 25 2974 c.2884_splice c.e25+1 p.D962_splice NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGGTAACCTACCTTTGATATT 0.378 NA 3 21 0 0 0 0 MAP3K13 9175 broad.mit.edu 37 3 185183579 185183579 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:185183579G>A uc010hyf.2 + 10 1699 c.1433G>A c.(1432-1434)CGG>CAG p.R478Q MAP3K13_uc011brt.1_Missense_Mutation_p.R271Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R334Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R478Q|MAP3K13_uc010hyg.2_Missense_Mutation_p.R168Q NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 478 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAGCTTGAGCGGGCGAATAAT 0.473 NA 19 87 0 0 0 0 ACAP2 23527 broad.mit.edu 37 3 195015475 195015475 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:195015475C>A uc003fun.3 - 18 1979 c.1738G>T c.(1738-1740)GTG>TTG p.V580L NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 580 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTGGCTGACACCGTGGAGGGT 0.363 NA 8 54 2.18e-05 2.28e-05 1 0 LRCH3 84859 broad.mit.edu 37 3 197553768 197553768 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr3:197553768G>C uc011bul.1 + 5 665 c.660G>C c.(658-660)TTG>TTC p.L220F LRCH3_uc003fyj.1_Missense_Mutation_p.L220F|LRCH3_uc011bum.1_Missense_Mutation_p.L220F|LRCH3_uc011bun.1_Missense_Mutation_p.L94F|LRCH3_uc003fyk.2_5'Flank NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 220 LRR 7. extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AGTTGCCTTTGATACGGTTAG 0.383 NA 20 93 0 0 0 0 GSX2 170825 broad.mit.edu 37 4 54967925 54967925 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:54967925C>G uc010igp.1 + 2 1015 c.751C>G c.(751-753)CAG>GAG p.Q251E PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 251 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AATCTGGTTTCAGAACCGCCG 0.567 NA 5 86 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62897307 62897307 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:62897307C>T uc010ihh.2 + 20 3539 c.3366C>T c.(3364-3366)TTC>TTT p.F1122F LPHN3_uc003hcq.3_Silent_p.F1122F|LPHN3_uc003hct.2_Silent_p.F506F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1100 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TATTTATTTTCCATTGTGTCC 0.333 NA 26 12 0 0 0 0 CDKL2 8999 broad.mit.edu 37 4 76551024 76551024 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:76551024C>T uc003hiq.2 - 2 674 c.149G>A c.(148-150)CGA>CAA p.R50Q CDKL2_uc011cbp.1_Missense_Mutation_p.R50Q|CDKL2_uc010iix.1_RNA NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 50 Protein kinase.|[NKR]KIAxRE. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTTGATTTCTCGCATTGCAAT 0.299 NA 13 35 0 0 0 0 SCD5 79966 broad.mit.edu 37 4 83719652 83719652 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:83719652G>C uc003hna.2 - 1 359 c.39C>G c.(37-39)TTC>TTG p.F13L SCD5_uc003hnb.3_Missense_Mutation_p.F13L|SCD5_uc003hnc.2_Missense_Mutation_p.F13L NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 13 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TGGCGTCGCAGAAAGGGATCT 0.736 NA 6 6 0 0 0 0 MMRN1 22915 broad.mit.edu 37 4 90857798 90857798 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:90857798G>A uc003hst.2 + 6 3038 c.2967G>A c.(2965-2967)TCG>TCA p.S989S MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.S731S NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 989 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TAGATCGATCGTTGCCTGGTA 0.353 NA 36 16 0 0 0 0 BMPR1B 658 broad.mit.edu 37 4 96046186 96046186 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:96046186G>C uc003htm.3 + 8 773 c.499G>C c.(499-501)GAA>CAA p.E167Q BMPR1B_uc010ilb.2_Missense_Mutation_p.E167Q|BMPR1B_uc003htn.3_Missense_Mutation_p.E167Q NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 167 Cytoplasmic (Potential). BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) AGAACAGGATGAAACTTACAT 0.408 NA 10 21 0 0 0 0 ADH4 127 broad.mit.edu 37 4 100062796 100062796 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:100062796A>G uc003hun.2 - 3 234 c.158T>C c.(157-159)GTT>GCT p.V53A uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.V72A NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 53 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) AGAATCGATAACAGTGGCATC 0.443 NA 18 32 0 0 0 0 NFKB1 4790 broad.mit.edu 37 4 103534639 103534639 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:103534639G>A uc011ceq.1 + 23 3114 c.2647G>A c.(2647-2649)GAA>AAA p.E883K NFKB1_uc011cep.1_Missense_Mutation_p.E884K|NFKB1_uc011cer.1_Missense_Mutation_p.E703K NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 883 Death.|Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GGGCTACACCGAAGCAATTGA 0.567 NA 8 21 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249442 123249442 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:123249442G>A uc003ieh.2 + 64 11224 c.11179G>A c.(11179-11181)GAA>AAA p.E3727K KIAA1109_uc003iem.2_Missense_Mutation_p.E118K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3727 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTCTACCAGTGAAGATTCCGA 0.423 NA 22 43 0 0 0 0 SPATA5 166378 broad.mit.edu 37 4 123977581 123977581 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:123977581A>G uc003iez.3 + 12 2192 c.2119A>G c.(2119-2121)AGA>GGA p.R707G NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 707 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 TGAATCTGAAAGAGCAGTTAG 0.383 NA 10 13 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126238739 126238739 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:126238739C>G uc003ifj.3 + 1 1173 c.1173C>G c.(1171-1173)AAC>AAG p.N391K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 391 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCGCGGCCAACGGGAACATCT 0.607 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0 0 0 0 LARP1B 55132 broad.mit.edu 37 4 129043203 129043203 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:129043203C>T uc003iga.2 + 11 1515 c.1384C>T c.(1384-1386)CCT>TCT p.P462S LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.P462S|LARP1B_uc003igb.1_Missense_Mutation_p.P177S NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 462 RNA binding 0 GAAAAAACATCCTGGAGGAGA 0.368 NA 41 38 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147561835 147561835 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:147561835C>T uc003ikv.2 + 2 1353 c.1105C>T c.(1105-1107)CGG>TGG p.R369W NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 369 Homeobox. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CATTCAGCCTCGGCCCTCCTC 0.577 NA 18 52 0 0 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504859 151504859 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:151504859G>C uc003ilw.2 + 1 1783 c.678G>C c.(676-678)GAG>GAC p.E226D LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 226 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GCTCGGCAGAGAGCGACGCCT 0.647 NA 12 41 0 0 0 0 NAF1 92345 broad.mit.edu 37 4 164069513 164069513 + Nonsense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:164069513G>C uc003iqj.2 - 3 808 c.614C>G c.(613-615)TCA>TGA p.S205* NAF1_uc010iqw.1_Nonsense_Mutation_p.S205* NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 205 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) AATAATACTTGAAACCATCCC 0.284 NA 9 99 0 0 0 0 TKTL2 84076 broad.mit.edu 37 4 164393894 164393894 + Missense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:164393894T>A uc003iqp.3 - 1 1154 c.993A>T c.(991-993)AAA>AAT p.K331N NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 331 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) cacggcccagtttagccagag 0.194 NA 28 82 0 0 0 0 DDX60L 91351 broad.mit.edu 37 4 169317111 169317111 + Nonsense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:169317111G>C uc003irq.3 - 27 3877 c.3656C>G c.(3655-3657)TCA>TGA p.S1219* DDX60L_uc003irr.1_Nonsense_Mutation_p.S1220*|DDX60L_uc003irs.1_Nonsense_Mutation_p.S914* NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1219 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGACGTACTGAGTCTTTATT 0.343 NA 4 23 0 0 0 0 DDX60L 91351 broad.mit.edu 37 4 169393962 169393962 + Splice_Site SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:169393962T>C uc003irq.3 - 2 112 c.-109_splice c.e2-1 DDX60L_uc003irr.1_Splice_Site|DDX60L_uc003irt.1_Splice_Site NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ATGGCACCTCTGTAATAAAAG 0.343 NA 12 5 0 0 0 0 AADAT 51166 broad.mit.edu 37 4 170989840 170989840 + Splice_Site SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr4:170989840T>G uc003isr.2 - 8 1146 c.804_splice c.e8-1 p.G268_splice AADAT_uc003iss.2_Splice_Site_p.G268_splice|AADAT_uc003ist.2_Splice_Site_p.G272_splice NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATTCTCAACCTACGTGGAAAG 0.363 NA 6 54 0 0 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154808 9154808 + Splice_Site SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:9154808C>G uc003jek.2 - 12 1986 c.1274_splice c.e12-1 p.D425_splice NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GTTCCGTAATCTATGAAGGTC 0.498 NA 29 130 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:13923469C>T uc003jfd.2 - 4 400 c.358G>A c.(358-360)GAT>AAT p.D120N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGAGCCACATCGTTTCCCTCG 0.458 NA Kartagener_syndrome 24 303 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16676206 16676206 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:16676206G>A uc003jft.3 - 34 5068 c.4600C>T c.(4600-4602)CGA>TGA p.R1534* MYO10_uc011cnb.1_Nonsense_Mutation_p.R163*|MYO10_uc011cnc.1_Nonsense_Mutation_p.R413*|MYO10_uc011cnd.1_Nonsense_Mutation_p.R891*|MYO10_uc011cne.1_Nonsense_Mutation_p.R891*|MYO10_uc010itx.2_Nonsense_Mutation_p.R1156* NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1534 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TGGGTGTATCGAAGGATCGGG 0.493 NA 19 141 0 0 0 0 MTMR12 54545 broad.mit.edu 37 5 32230321 32230321 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:32230321C>G uc003jhq.2 - 16 1977 c.1807G>C c.(1807-1809)GAT>CAT p.D603H MTMR12_uc010iuk.2_Missense_Mutation_p.D549H|MTMR12_uc010iul.2_Missense_Mutation_p.D493H NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 603 Myotubularin phosphatase. cytoplasm phosphatase activity ovary(1) 1 TGGAGCTCATCAGAAGAATTA 0.403 NA 26 155 0 0 0 0 TTC23L 153657 broad.mit.edu 37 5 34863022 34863022 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:34863022G>T uc003jiu.2 + 5 502 c.399G>T c.(397-399)AAG>AAT p.K133N TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 133 binding central_nervous_system(1) 1 TTCAGGCCAAGAAACATGCTA 0.478 NA 13 69 9.31e-06 9.81e-06 1 0 WDR70 55100 broad.mit.edu 37 5 37725096 37725096 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:37725096A>G uc003jkv.2 + 16 1716 c.1658A>G c.(1657-1659)AAG>AGG p.K553R NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 553 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGCTGGAGAAGGACAGACTG 0.502 NA 119 103 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451422 38451422 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:38451422C>G uc003jlc.1 + 20 2897 c.2573C>G c.(2572-2574)TCA>TGA p.S858* EGFLAM_uc003jlb.1_Nonsense_Mutation_p.S850*|EGFLAM_uc003jle.1_Nonsense_Mutation_p.S616*|EGFLAM_uc003jlf.1_Nonsense_Mutation_p.S216*|EGFLAM_uc003jlg.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 858 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TCCAGGGTGTCAGGATCAAGA 0.478 NA 38 297 0 0 0 0 RICTOR 253260 broad.mit.edu 37 5 38991111 38991111 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:38991111C>G uc003jlp.2 - 7 547 c.523G>C c.(523-525)GAT>CAT p.D175H RICTOR_uc003jlo.2_Missense_Mutation_p.D175H|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.D159H|RICTOR_uc011cpk.1_Missense_Mutation_p.D175H NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 175 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TGAAGTCCATCATTTCCAACT 0.353 NA 4 99 0 0 0 0 PAIP1 10605 broad.mit.edu 37 5 43527498 43527498 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:43527498C>G uc003job.2 - 11 1667 c.1420G>C c.(1420-1422)GAG>CAG p.E474Q PAIP1_uc003joa.2_Missense_Mutation_p.E395Q|PAIP1_uc010ivp.2_3'UTR|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E362Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 474 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) CGCTTACGCTCTGATTCCAAA 0.338 NA 8 79 0 0 0 0 PAIP1 10605 broad.mit.edu 37 5 43527528 43527528 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:43527528C>G uc003job.2 - 11 1637 c.1390G>C c.(1390-1392)GAA>CAA p.E464Q PAIP1_uc003joa.2_Missense_Mutation_p.E385Q|PAIP1_uc010ivp.2_3'UTR|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E352Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 464 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) TCATAAGCTTCTTCTATCTCT 0.328 NA 11 81 0 0 0 0 PRR16 51334 broad.mit.edu 37 5 120022237 120022237 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:120022237C>A uc003ksq.2 + 2 911 c.748C>A c.(748-750)CCC>ACC p.P250T PRR16_uc003ksp.2_Missense_Mutation_p.P227T|PRR16_uc003ksr.2_Missense_Mutation_p.P180T NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 250 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCAAGGCCCTCCCCTCCCTCC 0.522 NA 19 16 2.46e-09 2.63e-09 1 0 FBN2 2201 broad.mit.edu 37 5 127645021 127645021 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:127645021C>G uc003kuu.2 - 41 5710 c.5271G>C c.(5269-5271)GTG>GTC p.V1757V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1757 TB 7. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCTTTTTGTCACATTGAAAG 0.428 NA 4 48 0 0 0 0 KDM3B 51780 broad.mit.edu 37 5 137735696 137735696 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:137735696G>A uc003lcy.1 + 11 3394 c.3194G>A c.(3193-3195)CGC>CAC p.R1065H KDM3B_uc010jew.1_Missense_Mutation_p.R721H|KDM3B_uc011cys.1_Missense_Mutation_p.R97H NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1065 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AGCCGGCCACGCAGTGGTAAG 0.478 NA 4 61 0 0 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554059 140554059 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:140554059G>A uc003lit.2 + 1 1817 c.1643G>A c.(1642-1644)CGC>CAC p.R548H NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 548 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGTGCGCGTGCTGGTG 0.726 NA 50 29 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140737171 140737171 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:140737171G>C uc003ljq.1 + 1 2404 c.2404G>C c.(2404-2406)GGA>CGA p.G802R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G802R|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 802 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAACAAAAGGAGACCCTAA 0.393 NA 11 26 0 0 0 0 CYFIP2 26999 broad.mit.edu 37 5 156751060 156751060 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:156751060C>T uc003lwq.2 + 18 1941 c.1803C>T c.(1801-1803)TTC>TTT p.F601F CYFIP2_uc011ddn.1_Silent_p.F575F|CYFIP2_uc011ddo.1_Silent_p.F405F|CYFIP2_uc003lwr.2_Silent_p.F601F|CYFIP2_uc003lws.2_Silent_p.F601F|CYFIP2_uc003lwt.2_Silent_p.F504F|CYFIP2_uc011ddp.1_Silent_p.F335F NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 626 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTCTTCTTCACACATCTGC 0.547 NA 18 7 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 159992488 159992488 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:159992488C>T uc003lym.1 - 26 5205 c.4358G>A c.(4357-4359)CGC>CAC p.R1453H ATP10B_uc010jit.1_Missense_Mutation_p.R703H NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1453 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGGGATCGGCGATGGCTGCT 0.532 NA 29 66 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161569304 161569304 + Missense_Mutation SNP C C A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:161569304C>A uc003lyz.3 + 7 1262 c.904C>A c.(904-906)CCA>ACA p.P302T GABRG2_uc010jjc.2_Missense_Mutation_p.P342T|GABRG2_uc003lyy.3_Missense_Mutation_p.P302T|GABRG2_uc011dej.1_Missense_Mutation_p.P207T NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 302 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GGATGCTGTTCCAGCCAGAAC 0.403 NA 64 22 7.59e-32 8.29e-32 1 0 DOCK2 1794 broad.mit.edu 37 5 169454870 169454870 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr5:169454870G>C uc003maf.2 + 34 3465 c.3385G>C c.(3385-3387)GAA>CAA p.E1129Q DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E621Q NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1129 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTTCAGTTTGAAAACGAAAT 0.393 NA 15 43 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12120396 12120396 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:12120396C>G uc003nac.2 + 4 547 c.368C>G c.(367-369)TCA>TGA p.S123* HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 123 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTGAAGCCTCAAAATCTGAA 0.433 NA 25 54 0 0 0 0 ACOT13 55856 broad.mit.edu 37 6 24698242 24698242 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:24698242T>C uc003nek.2 + 2 442 c.213T>C c.(211-213)GCT>GCC p.A71A ACOT13_uc010jpv.2_Silent_p.A48A NM_018473 NP_060943 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 isoform 1 71 protein homotetramerization mitochondrion acyl-CoA thioesterase activity 0 CAACAATGGCTCTGCTATGCA 0.438 NA 15 41 0 0 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225674 26225674 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:26225674G>A uc003nhb.2 + 2 652 c.292G>A c.(292-294)GAG>AAG p.E98K HIST1H3E_uc003nhc.3_Missense_Mutation_p.E98K NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GGAGGCCTGCGAGGCCTACTT 0.592 NA OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 42 0 0 0 0 GABBR1 2550 broad.mit.edu 37 6 29588923 29588923 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:29588923C>G uc003nmt.3 - 11 1614 c.1278G>C c.(1276-1278)GAG>GAC p.E426D GABBR1_uc003nmp.3_Missense_Mutation_p.E309D|GABBR1_uc003nms.3_Missense_Mutation_p.E309D|GABBR1_uc003nmu.3_Missense_Mutation_p.E364D|GABBR1_uc011dlr.1_Missense_Mutation_p.E249D|GABBR1_uc011dls.1_Missense_Mutation_p.E426D NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 426 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) GCATGACAATCTCAGTTGTGA 0.532 NA 11 28 0 0 0 0 VARS 7407 broad.mit.edu 37 6 31750118 31750118 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:31750118G>C uc003nxe.2 - 17 2517 c.2094C>G c.(2092-2094)CTC>CTG p.L698L VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 698 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GCAGGATGCGGAGGTCACCCC 0.667 NA 6 15 0 0 0 0 VARS 7407 broad.mit.edu 37 6 31759748 31759748 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:31759748T>G uc003nxe.2 - 7 1295 c.872A>C c.(871-873)GAT>GCT p.D291A VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 291 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GCCACTGACATCTGGGGGAGA 0.622 NA 3 6 0 0 0 0 ATF6B 1388 broad.mit.edu 37 6 32087660 32087660 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:32087660C>T uc003nzn.2 - 9 940 c.907G>A c.(907-909)GAG>AAG p.E303K TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.E300K|ATF6B_uc003nzp.1_5'UTR NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 303 Cytoplasmic (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTCTTCCTCTCAGGCCGTGGT 0.592 NA 13 33 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38830055 38830055 + Splice_Site SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:38830055G>A uc003ooe.1 + 42 6081 c.5481_splice c.e42-1 p.R1827_splice NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AACATTTGCAGATGCTATATC 0.463 NA 18 34 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39688494 39688494 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:39688494C>T uc003oot.2 - 2 255 c.160G>A c.(160-162)GAA>AAA p.E54K KIF6_uc011dua.1_Missense_Mutation_p.E54K|KIF6_uc010jxb.1_Missense_Mutation_p.E54K NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 54 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TTGTAGCTTTCTCGCTTATTA 0.299 NA 15 25 0 0 0 0 SRF 6722 broad.mit.edu 37 6 43144380 43144380 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:43144380C>T uc003oui.2 + 4 1612 c.1137C>T c.(1135-1137)CTC>CTT p.L379L SRF_uc011dvf.1_Silent_p.L175L NM_003131 NP_003122 P11831 SRF_HUMAN serum response factor (c-fos serum response 379 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCACAGACCTCACGCAGACCT 0.647 NA 18 81 0 0 0 0 MICAL1 64780 broad.mit.edu 37 6 109771220 109771220 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:109771220C>T uc003ptj.2 - 8 1514 c.1260G>A c.(1258-1260)GTG>GTA p.V420V MICAL1_uc003ptk.2_Silent_p.V420V|MICAL1_uc010kdr.2_Silent_p.V334V|MICAL1_uc011eaq.1_Silent_p.V439V NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 420 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCCACCGCTTCACCATCCAGG 0.612 NA 25 251 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112443245 112443245 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:112443245C>G uc003pvu.2 - 32 4756 c.4447G>C c.(4447-4449)GAA>CAA p.E1483Q LAMA4_uc003pvv.2_Missense_Mutation_p.E1476Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E1476Q NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1483 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTAAGTGTTCAAACTCTTGG 0.443 NA 17 54 0 0 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938128 116938128 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:116938128G>C uc003pxe.2 + 1 487 c.342G>C c.(340-342)ACG>ACC p.T114T RSPH4A_uc010kee.2_Silent_p.T114T NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 114 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 ACAGGACCACGAGTGTGATTC 0.552 NA Kartagener_syndrome 18 51 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119345734 119345734 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:119345734C>G uc003pyj.2 - 2 752 c.404G>C c.(403-405)AGA>ACA p.R135T FAM184A_uc003pyk.3_Missense_Mutation_p.R15T|FAM184A_uc003pyl.3_Missense_Mutation_p.R15T NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 135 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 GTCCTCAACTCTGTGCTTATA 0.378 NA 25 42 0 0 0 0 STX7 8417 broad.mit.edu 37 6 132785161 132785161 + Nonsense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:132785161G>A uc003qdg.2 - 9 914 c.664C>T c.(664-666)CAG>TAG p.Q222* STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Nonsense_Mutation_p.Q47* NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 222 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) GACAGCTGCTGATTTGCTTGC 0.378 NA 30 101 0 0 0 0 TAAR6 319100 broad.mit.edu 37 6 132892295 132892295 + Silent SNP T T C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:132892295T>C uc011eck.1 + 1 835 c.835T>C c.(835-837)TTA>CTA p.L279L NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 279 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CATTGATTCATTAATTGATGC 0.408 NA 22 61 0 0 0 0 CCDC28A 25901 broad.mit.edu 37 6 139106386 139106386 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:139106386G>A uc003qie.2 + 4 770 c.615G>A c.(613-615)CAG>CAA p.Q205Q NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 205 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CCATTGAACAGATGGAACATG 0.388 NA 53 45 0 0 0 0 C6orf115 58527 broad.mit.edu 37 6 139363855 139363855 + Splice_Site SNP G G C rs9495322 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:139363855G>C uc003qil.2 + 3 262 c.62_splice c.e3-1 p.N21_splice C6orf115_uc003qim.2_Splice_Site_p.N21_splice NM_021243 NP_067066 Q9P1F3 CF115_HUMAN hypothetical protein LOC58527 0 GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413) TCTCAAACTAGATGCTGATGG 0.358 NA 37 117 0 0 0 0 GPR126 57211 broad.mit.edu 37 6 142718791 142718791 + Missense_Mutation SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:142718791A>G uc010khc.2 + 10 1877 c.1466A>G c.(1465-1467)AAT>AGT p.N489S GPR126_uc010khd.2_Missense_Mutation_p.N461S|GPR126_uc010khe.2_Missense_Mutation_p.N489S|GPR126_uc010khf.2_Missense_Mutation_p.N461S NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 489 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTACCAACAATACTAATTTG 0.398 NA 29 23 0 0 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094723 143094723 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:143094723G>C uc003qjd.2 - 5 1896 c.1153C>G c.(1153-1155)CTC>GTC p.L385V NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGAAGGTTGAGCGATGGCTCA 0.438 NA 43 103 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152720763 152720763 + Nonsense_Mutation SNP T T A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152720763T>A uc010kiw.2 - 48 7827 c.7225A>T c.(7225-7227)AAA>TAA p.K2409* SYNE1_uc003qot.3_Nonsense_Mutation_p.K2416*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K2409*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K2392* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2409 Spectrin 4.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGAAGTGTTTTTCCAGAGAT 0.493 NA HNSCC(10;0.0054) 138 142 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152763259 152763259 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152763259G>T uc010kiw.2 - 31 4561 c.3959C>A c.(3958-3960)ACA>AAA p.T1320K SYNE1_uc003qot.3_Missense_Mutation_p.T1327K|SYNE1_uc003qou.3_Missense_Mutation_p.T1320K|SYNE1_uc010kjb.1_Missense_Mutation_p.T1303K|SYNE1_uc003qow.2_Missense_Mutation_p.T615K|SYNE1_uc003qox.1_Missense_Mutation_p.T836K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1320 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCATCCAGTGTGCTCTCCAG 0.637 NA HNSCC(10;0.0054) 17 53 3.67e-16 3.98e-16 1 0 SYNE1 23345 broad.mit.edu 37 6 152841605 152841605 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:152841605C>T uc010kiw.2 - 6 900 c.298G>A c.(298-300)GAA>AAA p.E100K SYNE1_uc003qot.3_Missense_Mutation_p.E100K|SYNE1_uc003qou.3_Missense_Mutation_p.E100K|SYNE1_uc010kjb.1_Missense_Mutation_p.E100K|SYNE1_uc003qpa.1_Missense_Mutation_p.E100K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 100 Actin-binding.|Cytoplasmic (Potential).|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTCTTCCTTCGAGGAACTTG 0.443 NA HNSCC(10;0.0054) 40 137 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159653679 159653679 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:159653679C>T uc010kjv.2 + 11 2335 c.2135C>T c.(2134-2136)GCC>GTC p.A712V FNDC1_uc010kjw.1_Missense_Mutation_p.A597V NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 712 Ser-rich. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GATTCCAGTGCCTCAGCCCCA 0.657 NA 8 12 0 0 0 0 SLC22A3 6581 broad.mit.edu 37 6 160857877 160857877 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:160857877G>C uc003qti.2 + 6 1068 c.1041G>C c.(1039-1041)ATG>ATC p.M347I SLC22A3_uc011efx.1_Intron NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 347 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CTCCCCAAATGAGGAAATGCA 0.348 NA 16 33 0 0 0 0 SLC22A3 6581 broad.mit.edu 37 6 160864770 160864770 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:160864770C>T uc003qti.2 + 9 1533 c.1506C>T c.(1504-1506)ATC>ATT p.I502I SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 502 Helical; (Potential). integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CTCTGATCATCTTTGGTAAGA 0.393 NA 32 21 0 0 0 0 THBS2 7058 broad.mit.edu 37 6 169640633 169640633 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr6:169640633T>G uc003qwt.2 - 7 1194 c.946A>C c.(946-948)AAC>CAC p.N316H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 316 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCTGACATGTTCCTTGTCTTA 0.483 NA 27 24 0 0 0 0 ETV1 2115 broad.mit.edu 37 7 13946217 13946217 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:13946217G>C uc011jxq.1 - 12 1687 c.948C>G c.(946-948)ATC>ATG p.I316M ETV1_uc011jxn.1_Missense_Mutation_p.I276M|ETV1_uc011jxo.1_Missense_Mutation_p.I213M|ETV1_uc011jxp.1_Missense_Mutation_p.I258M|ETV1_uc003ssw.3_Missense_Mutation_p.I293M|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.I298M|ETV1_uc011jxs.1_Missense_Mutation_p.I298M|ETV1_uc010ktv.2_Nonsense_Mutation_p.S185* NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 316 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 GCTCTTGTTTGATGTCTCCTA 0.368 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 3 11 0 0 0 0 AGR3 155465 broad.mit.edu 37 7 16902261 16902261 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:16902261G>A uc003sts.2 - 4 272 c.199C>T c.(199-201)CAC>TAC p.H67Y NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 67 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TCCTCCAGGTGATGAATAACC 0.284 NA 17 86 0 0 0 0 ABCB5 340273 broad.mit.edu 37 7 20762686 20762686 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:20762686G>T uc003suw.3 + 12 1680 c.1134G>T c.(1132-1134)ATG>ATT p.M378I ABCB5_uc010kuh.2_Missense_Mutation_p.M823I|ABCB5_uc003sux.1_Missense_Mutation_p.M1I NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 378 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAACTAACATGGGACTTTCAG 0.378 NA 37 77 5.72e-15 6.19e-15 1 0 DNAH11 8701 broad.mit.edu 37 7 21599363 21599363 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:21599363G>C uc003svc.2 + 4 866 c.835G>C c.(835-837)GAT>CAT p.D279H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 279 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGCAGAACTAGATTTCTGGAT 0.358 NA Kartagener_syndrome 7 8 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33388766 33388766 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:33388766C>T uc003tdn.1 + 13 1929 c.1416C>T c.(1414-1416)TTC>TTT p.F472F BBS9_uc003tdo.1_Silent_p.F472F|BBS9_uc003tdp.1_Silent_p.F472F|BBS9_uc003tdq.1_Silent_p.F472F|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Silent_p.F350F NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 472 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GTGATCAGTTCACCTTTGAAT 0.333 NA Bardet-Biedl_syndrome 14 76 0 0 0 0 BMPER 168667 broad.mit.edu 37 7 34118611 34118611 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:34118611C>G uc011kap.1 + 12 1335 c.1221C>G c.(1219-1221)AAC>AAG p.N407K NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 407 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TGGTGAAGAACGACGCCCGCC 0.607 NA 49 88 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38812139 38812139 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:38812139C>G uc003tgy.2 - 13 1137 c.1111G>C c.(1111-1113)GAA>CAA p.E371Q VPS41_uc003tgz.2_Missense_Mutation_p.E346Q|VPS41_uc010kxn.2_Missense_Mutation_p.E282Q NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 371 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 TTCTTCTTTTCAAGGAGCCAG 0.363 NA 9 40 0 0 0 0 TNS3 64759 broad.mit.edu 37 7 47319949 47319949 + Silent SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:47319949G>C uc003tnv.2 - 29 4468 c.4101C>G c.(4099-4101)CTC>CTG p.L1367L TNS3_uc003tnw.2_Silent_p.L1367L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 1367 focal adhesion protein binding ovary(4) 4 TCCGGAAGAAGAGCCTGTTGG 0.502 NA 8 37 0 0 0 0 IKZF1 10320 broad.mit.edu 37 7 50450284 50450284 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:50450284G>A uc003tow.3 + 6 636 c.468G>A c.(466-468)CAG>CAA p.Q156Q IKZF1_uc003tox.3_Silent_p.Q156Q|IKZF1_uc003toy.3_Silent_p.Q156Q|IKZF1_uc011kck.1_Silent_p.Q69Q|IKZF1_uc003toz.3_Silent_p.Q126Q|IKZF1_uc010kyx.2_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 156 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).|C2H2-type 2. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CATTCACCCAGAAGGGCAACC 0.612 NA D ALL 5 25 0 0 0 0 COBL 23242 broad.mit.edu 37 7 51261114 51261114 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:51261114C>T uc003tpr.3 - 3 603 c.418G>A c.(418-420)GAA>AAA p.E140K COBL_uc003tps.2_Missense_Mutation_p.E140K|COBL_uc011kcl.1_Missense_Mutation_p.E140K|COBL_uc010kzc.2_Missense_Mutation_p.E140K|COBL_uc003tpt.2_Missense_Mutation_p.E140K|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.E56K NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 140 skin(3)|ovary(2) 5 Glioma(55;0.08) ACCTTCTCTTCAGGAACTTTT 0.453 NA 14 77 0 0 0 0 AUTS2 26053 broad.mit.edu 37 7 70252204 70252204 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:70252204C>G uc003tvw.3 + 18 3061 c.2318C>G c.(2317-2319)TCA>TGA p.S773* AUTS2_uc003tvx.3_Nonsense_Mutation_p.S749*|AUTS2_uc011keg.1_Nonsense_Mutation_p.S225* NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 773 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCACCCAACTCAATGTTCGGC 0.473 NA 7 21 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83610791 83610791 + Missense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:83610791G>T uc003uhz.2 - 14 1813 c.1498C>A c.(1498-1500)CAA>AAA p.Q500K NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 500 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ATATATAGTTGTTGCTGTGGA 0.418 NA 4 9 2.56e-06 2.7e-06 1 0 MTERF 7978 broad.mit.edu 37 7 91503289 91503289 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:91503289C>G uc003ulb.1 - 2 863 c.819G>C c.(817-819)CTG>CTC p.L273L MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L273L|MTERF_uc011khm.1_Silent_p.L253L|MTERF_uc010leu.1_Silent_p.L253L NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 273 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) GACCACATATCAGAACCAGCA 0.413 NA 10 46 0 0 0 0 CALCR 799 broad.mit.edu 37 7 93098029 93098029 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:93098029G>A uc003umv.1 - 7 834 c.573C>T c.(571-573)TTC>TTT p.F191F CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.F173F|CALCR_uc003umw.2_Silent_p.F173F NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 173 Helical; Name=1; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTACTTACCTGAAAAACACGA 0.418 NA 6 38 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94052411 94052411 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:94052411C>T uc003ung.1 + 40 3017 c.2546C>T c.(2545-2547)TCT>TTT p.S849F COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 849 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AAGGGTCCCTCTGGAGAGGCT 0.507 NA HNSCC(75;0.22) 15 91 0 0 0 0 C7orf43 55262 broad.mit.edu 37 7 99753354 99753354 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:99753354C>T uc003utr.2 - 9 1515 c.1335G>A c.(1333-1335)CGG>CGA p.R445R C7orf43_uc010lgo.2_Silent_p.R71R|C7orf43_uc010lgp.2_Silent_p.R67R|C7orf43_uc011kjj.1_Silent_p.R213R|C7orf43_uc003uts.2_Silent_p.R176R NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 445 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGCTGCCCTTCCGGGAAAAGC 0.657 NA 30 120 0 0 0 0 PSMC2 5701 broad.mit.edu 37 7 103006550 103006550 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:103006550G>C uc003vbs.2 + 9 854 c.784G>C c.(784-786)GAA>CAA p.E262Q SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.E125Q NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 262 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TGAACTCTTTGAAATGGCCAG 0.323 NA 40 51 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103155675 103155675 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:103155675G>A uc003vca.2 - 50 8236 c.8076C>T c.(8074-8076)GTC>GTT p.V2692V RELN_uc010liz.2_Silent_p.V2692V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2692 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) CGATCCTCCCGACAGGGCCGG 0.517 NA 6 39 0 0 0 0 EXOC4 60412 broad.mit.edu 37 7 133059592 133059592 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:133059592G>A uc003vrk.2 + 7 1053 c.1018G>A c.(1018-1020)GAA>AAA p.E340K EXOC4_uc011kpo.1_Missense_Mutation_p.E239K|EXOC4_uc003vri.2_Missense_Mutation_p.E340K|EXOC4_uc003vrj.2_Missense_Mutation_p.E340K NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 340 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GTTGCTTCTAGAACTGCTGGA 0.423 NA 17 39 0 0 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764323 138764323 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:138764323C>G uc003vun.2 - 4 1752 c.1364G>C c.(1363-1365)AGA>ACA p.R455T ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.R455T NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 455 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TGATATTTCTCTGTGACCGCT 0.468 NA 24 41 0 0 0 0 ZNF212 7988 broad.mit.edu 37 7 148947893 148947893 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr7:148947893C>G uc003wfp.2 + 3 632 c.536C>G c.(535-537)TCT>TGT p.S179C NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 179 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) ACACTGGTCTCTCTGAGTGAG 0.498 NA 19 44 0 0 0 0 SOX7 83595 broad.mit.edu 37 8 10683716 10683716 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:10683716C>T uc011kwz.1 - 5 373 c.340G>A c.(340-342)GAG>AAG p.E114K PINX1_uc003wth.2_Missense_Mutation_p.E114K|PINX1_uc003wti.2_Missense_Mutation_p.E114K|MIR1322_hsa-mir-1322|MI0006653_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GACTTTTCCTCAAGGCTAAAA 0.299 NA 12 6 0 0 0 0 SGCZ 137868 broad.mit.edu 37 8 14022158 14022158 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:14022158C>T uc003wwq.2 - 5 1138 c.478G>A c.(478-480)GAT>AAT p.D160N SGCZ_uc010lss.2_Missense_Mutation_p.D113N NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 147 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACCCTGCCATCTTCACTGGCT 0.423 NA 14 29 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55537868 55537868 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:55537868C>G uc003xsd.1 + 4 1574 c.1426C>G c.(1426-1428)CAA>GAA p.Q476E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 476 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AACTGAGGTTCAAGAGAAAAT 0.388 NA 18 45 0 0 0 0 RPS20 6224 broad.mit.edu 37 8 56985678 56985678 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:56985678C>T uc003xsn.2 - 4 529 c.331G>A c.(331-333)GAG>AAG p.E111K RPS20_uc003xsm.2_Missense_Mutation_p.E111K NM_001023 NP_001014 P60866 RS20_HUMAN ribosomal protein S20 isoform 2 111 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) ACTTCCACCTCAACTCCTGGC 0.388 NA 18 33 0 0 0 0 RRS1 23212 broad.mit.edu 37 8 67341837 67341837 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:67341837G>A uc003xwa.2 + 1 575 c.471G>A c.(469-471)CTG>CTA p.L157L ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 157 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AAGAATGGCTGATTGAGGTGC 0.637 NA 13 19 0 0 0 0 CA3 761 broad.mit.edu 37 8 86360296 86360296 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:86360296G>A uc003ydj.2 + 7 780 c.697G>A c.(697-699)GAG>AAG p.E233K CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 233 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 CTCCAGTGCTGAGAACGAGCC 0.542 NA 14 17 0 0 0 0 SDC2 6383 broad.mit.edu 37 8 97620608 97620608 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:97620608G>C uc003yhv.1 + 4 970 c.352G>C c.(352-354)GAA>CAA p.E118Q SDC2_uc011lgu.1_Missense_Mutation_p.E89Q NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 118 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) CTCTGACTCAGAAAGGAAAAT 0.418 NA 7 28 0 0 0 0 SYBU 55638 broad.mit.edu 37 8 110655123 110655123 + Silent SNP A A G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:110655123A>G uc003ynj.3 - 2 226 c.63T>C c.(61-63)TCT>TCC p.S21S SYBU_uc003yni.3_Silent_p.S18S|SYBU_uc003ynk.3_Intron|SYBU_uc010mco.2_Silent_p.S20S|SYBU_uc003ynl.3_Silent_p.S20S|SYBU_uc010mcp.2_Silent_p.S21S|SYBU_uc010mcq.2_Silent_p.S21S|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Silent_p.S21S|SYBU_uc003ynm.3_Silent_p.S20S|SYBU_uc003ynn.3_Silent_p.S20S|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Silent_p.S21S|SYBU_uc010mcu.2_Silent_p.S20S|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Silent_p.S21S|uc003ynq.1_5'Flank NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 21 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TTCGGCTTCGAGAAATCTCCT 0.478 NA 21 45 0 0 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945204 119945204 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:119945204C>T uc003yon.3 - 2 689 c.366G>A c.(364-366)AGG>AGA p.R122R TNFRSF11B_uc010mdc.1_RNA NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 122 TNFR-Cys 3. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GAGGGCAGCTCCTATGTTTCA 0.493 NA 11 31 0 0 0 0 TOP1MT 116447 broad.mit.edu 37 8 144413487 144413487 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:144413487C>T uc003yxz.2 - 2 164 c.145G>A c.(145-147)GAC>AAC p.D49N TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 49 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TTCACCCCGTCTTCGTGCTTC 0.607 NA 35 17 0 0 0 0 ZNF251 90987 broad.mit.edu 37 8 145948062 145948062 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:145948062C>T uc003zdv.3 - 5 1239 c.983G>A c.(982-984)AGA>AAA p.R328K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 328 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GCTAAAGCCTCTTCCACATTC 0.488 NA 17 11 0 0 0 0 ZNF251 90987 broad.mit.edu 37 8 145948232 145948232 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:145948232C>T uc003zdv.3 - 5 1069 c.813G>A c.(811-813)GGG>GGA p.G271G NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 271 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CAAAAGTTTTCCCACATTCAT 0.453 NA 26 21 0 0 0 0 ZNF16 7564 broad.mit.edu 37 8 146157372 146157372 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr8:146157372G>A uc003zet.2 - 4 988 c.801C>T c.(799-801)TGC>TGT p.C267C ZNF16_uc003zeu.2_Silent_p.C267C NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 267 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CACATTCGCTGCACTGGTAAG 0.453 NA 4 94 0 0 0 0 KIAA2026 158358 broad.mit.edu 37 9 6007497 6007497 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:6007497G>A uc003zjq.3 - 1 507 c.291C>T c.(289-291)CTC>CTT p.L97L NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 97 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGGGGCGGTGAGGCCCCGGT 0.716 NA 11 60 0 0 0 0 BNC2 54796 broad.mit.edu 37 9 16436013 16436013 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:16436013C>G uc003zml.2 - 6 2319 c.2179G>C c.(2179-2181)GAG>CAG p.E727Q BNC2_uc011lmw.1_Missense_Mutation_p.E632Q|BNC2_uc003zmm.2_Missense_Mutation_p.E685Q|BNC2_uc003zmq.1_Missense_Mutation_p.E741Q|BNC2_uc003zmr.1_Missense_Mutation_p.E764Q|BNC2_uc003zmp.1_Missense_Mutation_p.E755Q|BNC2_uc010mij.1_Missense_Mutation_p.E649Q|BNC2_uc011lmv.1_Missense_Mutation_p.E553Q|BNC2_uc003zmo.1_Missense_Mutation_p.E649Q|BNC2_uc003zmj.2_Missense_Mutation_p.E492Q|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E492Q|BNC2_uc003zmn.1_Missense_Mutation_p.E492Q NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 727 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TCCGAAGACTCAGACTCGTTC 0.512 NA 155 44 0 0 0 0 HAUS6 54801 broad.mit.edu 37 9 19058235 19058235 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:19058235G>C uc003znk.2 - 16 2783 c.2530C>G c.(2530-2532)CTT>GTT p.L844V HAUS6_uc011lmz.1_Missense_Mutation_p.L564V|HAUS6_uc003znl.1_Missense_Mutation_p.L708V NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 844 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 TTCTTGGAAAGAGATTTCTTC 0.433 NA 29 353 0 0 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:20414373G>A uc003zoe.2 - 5 730 c.471C>T c.(469-471)AGC>AGT p.S157S MLLT3_uc011lne.1_Silent_p.S125S|MLLT3_uc011lnf.1_Silent_p.S154S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Intron NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.134 NA T MLL ALL 4 50 0 0 0 0 PIGO 84720 broad.mit.edu 37 9 35092757 35092757 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:35092757C>T uc003zwd.2 - 7 1523 c.1127G>A c.(1126-1128)CGA>CAA p.R376Q PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.R376Q|PIGO_uc003zwf.2_Missense_Mutation_p.R376Q|PIGO_uc003zwg.1_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 376 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATGAAGAAATCGGGACACCTG 0.512 NA 25 17 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627116 43627116 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:43627116G>A uc011lrb.1 - 4 1600 c.1571C>T c.(1570-1572)TCG>TTG p.S524L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 524 integral to membrane 0 TTTATTCTGCGATGCAGGGCA 0.507 NA 70 336 0 0 0 0 CBWD6 644019 broad.mit.edu 37 9 69247529 69247529 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:69247529G>A uc004afj.3 - 5 589 c.483C>T c.(481-483)TAC>TAT p.Y161Y CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 161 ATP binding 0 TACCATCAAGGTAAATATCAC 0.214 NA 3 30 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74347373 74347373 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:74347373C>G uc011lsa.1 - 7 1997 c.1457G>C c.(1456-1458)GGA>GCA p.G486A TMEM2_uc010mos.2_Missense_Mutation_p.G423A|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 486 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GGTAAGAATTCCAACCTCAGC 0.428 NA 21 54 0 0 0 0 SECISBP2 79048 broad.mit.edu 37 9 91963111 91963111 + Missense_Mutation SNP G G A rs147681365 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:91963111G>A uc004aqj.1 + 12 1800 c.1720G>A c.(1720-1722)GAG>AAG p.E574K SECISBP2_uc011ltk.1_Missense_Mutation_p.E573K|SECISBP2_uc004aqk.1_Missense_Mutation_p.E501K|SECISBP2_uc010mqo.1_Missense_Mutation_p.E279K|SECISBP2_uc011ltl.1_Missense_Mutation_p.E506K NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 574 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 CCAGTTTCCCGAGCAGGCAGA 0.463 NA 19 71 0 0 0 0 SEMA4D 10507 broad.mit.edu 37 9 92003801 92003801 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:92003801G>A uc004aqo.1 - 12 1508 c.936C>T c.(934-936)CTC>CTT p.L312L SEMA4D_uc011ltm.1_Silent_p.L312L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L310L NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 312 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GTGGGGTGAAGAGTGCATAGA 0.617 NA 26 95 0 0 0 0 SEMA4D 10507 broad.mit.edu 37 9 92017921 92017921 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:92017921C>T uc004aqo.1 - 6 689 c.117G>A c.(115-117)CTG>CTA p.L39L SEMA4D_uc011ltm.1_Silent_p.L39L|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.L37L NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 39 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GAAACTGCACCAGGTGCACCT 0.547 NA 10 48 0 0 0 0 SYK 6850 broad.mit.edu 37 9 93650072 93650072 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:93650072G>A uc004aqz.2 + 12 1828 c.1623G>A c.(1621-1623)CCG>CCA p.P541P SYK_uc004ara.2_Silent_p.P518P|SYK_uc004arb.2_Silent_p.P518P|SYK_uc004arc.2_Silent_p.P541P|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 541 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 GGTACGCTCCGGAATGCATCA 0.438 NA T ETV6|ITK MDS|peripheral T-cell lymphoma 7 164 0 0 0 0 NOL8 55035 broad.mit.edu 37 9 95062221 95062221 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:95062221C>G uc004arv.2 - 14 3590 c.3253G>C c.(3253-3255)GAA>CAA p.E1085Q NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.E317Q|NOL8_uc011ltw.1_Missense_Mutation_p.E1017Q NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 1085 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TCTTCCTCTTCTGAACTGCTG 0.388 NA 57 185 0 0 0 0 MURC 347273 broad.mit.edu 37 9 103340680 103340680 + Silent SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:103340680C>T uc004bba.2 + 1 345 c.255C>T c.(253-255)ATC>ATT p.I85I NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 85 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) CAGGGCATATCATTAACAAAT 0.388 NA 25 67 0 0 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617356 111617356 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:111617356G>A uc004bdi.2 - 1 920 c.855C>T c.(853-855)GAC>GAT p.D285D NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 285 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TGAGTTTGCCGTCCGGGAGCT 0.642 NA 78 30 0 0 0 0 OR2K2 26248 broad.mit.edu 37 9 114090514 114090514 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:114090514G>C uc011lwp.1 - 1 200 c.200C>G c.(199-201)TCT>TGT p.S67C NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 96 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCCATGAAAGAGAGATTTCC 0.418 NA 25 44 0 0 0 0 ALAD 210 broad.mit.edu 37 9 116152945 116152945 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:116152945C>T uc011lxf.1 - 6 611 c.409G>A c.(409-411)GAA>AAA p.E137K ALAD_uc011lxe.1_Missense_Mutation_p.E120K|ALAD_uc004bhl.3_Missense_Mutation_p.E166K NM_000031 NP_000022 P13716 HEM2_HUMAN delta-aminolevulinic acid dehydratase 137 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding 0 Aminolevulinic acid(DB00855) GCTCCGTTTTCACTCAGGAGC 0.622 NA 9 19 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116794974 116794974 + Missense_Mutation SNP T T G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:116794974T>G uc004bid.2 + 12 1233 c.1134T>G c.(1132-1134)TTT>TTG p.F378L ZNF618_uc004bic.2_Missense_Mutation_p.F285L|ZNF618_uc011lxi.1_Missense_Mutation_p.F345L|ZNF618_uc011lxj.1_Missense_Mutation_p.F346L|ZNF618_uc010mvb.2_5'UTR NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAACCACTTTGAAGAGACGA 0.562 NA 39 71 0 0 0 0 PBX3 5090 broad.mit.edu 37 9 128678148 128678148 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:128678148G>A uc004bqb.2 + 3 574 c.458G>A c.(457-459)AGA>AAA p.R153K PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Missense_Mutation_p.R78K|PBX3_uc011lzx.1_Missense_Mutation_p.R64K|PBX3_uc004bqe.2_Missense_Mutation_p.R40K NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 153 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 TCAGATTACAGAGCCAAATTG 0.507 NA 31 99 0 0 0 0 GARNL3 84253 broad.mit.edu 37 9 130119513 130119513 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:130119513G>C uc011mae.1 + 21 2352 c.1951G>C c.(1951-1953)GAC>CAC p.D651H GARNL3_uc011mad.1_Missense_Mutation_p.D629H|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 651 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTGTCTGTCTGACTCTCCCAT 0.522 NA 43 45 0 0 0 0 GARNL3 84253 broad.mit.edu 37 9 130119609 130119609 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:130119609G>C uc011mae.1 + 21 2448 c.2047G>C c.(2047-2049)GAG>CAG p.E683Q GARNL3_uc011mad.1_Missense_Mutation_p.E661Q|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 683 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGTGGTGAATGAGAGCACAGG 0.507 NA 23 27 0 0 0 0 NUP214 8021 broad.mit.edu 37 9 134073419 134073419 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:134073419C>T uc004cag.2 + 29 4649 c.4538C>T c.(4537-4539)TCA>TTA p.S1513L NUP214_uc004cah.2_Missense_Mutation_p.S1503L|NUP214_uc004cai.2_Missense_Mutation_p.S943L|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S339L|NUP214_uc011mcf.1_Missense_Mutation_p.S290L|NUP214_uc010mzh.1_Missense_Mutation_p.S27L|NUP214_uc010mzi.1_Missense_Mutation_p.S27L NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 1513 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTCTCAGCATCAGCAGCCTCA 0.552 NA T DEK|SET|ABL1 AML|T-ALL 15 102 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401080 139401080 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr9:139401080C>T uc004chz.2 - 24 3913 c.3913G>A c.(3913-3915)GAG>AAG p.E1305K NOTCH1_uc004cia.1_Missense_Mutation_p.E535K NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1305 Extracellular (Potential).|EGF-like 33. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGACGGACTCGCAGCGGCGC 0.692 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 9 11 0 0 0 0 ASMTL 8623 broad.mit.edu 37 X 1546872 1546872 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:1546872C>G uc004cpx.1 - 7 763 c.652G>C c.(652-654)GAG>CAG p.E218Q ASMTL_uc011mhe.1_Missense_Mutation_p.E142Q|ASMTL_uc004cpy.1_Missense_Mutation_p.E202Q|ASMTL_uc011mhf.1_Missense_Mutation_p.E160Q NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 218 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGCAGGTCCTCCGGACGGGGC 0.647 NA 16 40 0 0 0 0 NHS 4810 broad.mit.edu 37 X 17745088 17745088 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17745088G>C uc004cxx.2 + 6 3137 c.2799G>C c.(2797-2799)TTG>TTC p.L933F NHS_uc011mix.1_Missense_Mutation_p.L954F|NHS_uc004cxy.2_Missense_Mutation_p.L777F|NHS_uc004cxz.2_Missense_Mutation_p.L756F|NHS_uc004cya.2_Missense_Mutation_p.L656F NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 933 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TAAATGACTTGAAAACAAATG 0.423 NA 82 19 0 0 0 0 SCML1 6322 broad.mit.edu 37 X 17762333 17762333 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17762333C>G uc004cyb.2 + 2 352 c.27C>G c.(25-27)ATC>ATG p.I9M SCML1_uc004cyc.2_Missense_Mutation_p.I9M|SCML1_uc004cyd.2_Intron|SCML1_uc004cye.2_Intron NM_001037540 NP_001032629 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 isoform a 9 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1) 3 Hepatocellular(33;0.183) CCAGTGAAATCGATGTGGTTT 0.328 NA 19 29 0 0 0 0 SCML1 6322 broad.mit.edu 37 X 17768106 17768106 + Silent SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:17768106C>G uc004cyb.2 + 6 721 c.396C>G c.(394-396)TCC>TCG p.S132S SCML1_uc004cyc.2_Silent_p.S105S|SCML1_uc004cyd.2_Silent_p.S11S|SCML1_uc004cye.2_Silent_p.S11S NM_001037540 NP_001032629 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 isoform a 132 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1) 3 Hepatocellular(33;0.183) AGACATTCTCCTACCCTGAAA 0.418 NA 32 56 0 0 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820840 35820841 + Missense_Mutation DNP CC CC GA TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:35820840_35820841CC>GA uc010ngt.1 + 2 806_807 c.527_528CC>GA c.(526-528)ACC>AGA p.T176R NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 176 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GTGGACCCCACCACCCATTGCT 0.51 NA 8 17 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76776376 76776376 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:76776376G>A uc004ecp.3 - 34 7322 c.7090C>T c.(7090-7092)CTC>TTC p.L2364F ATRX_uc004ecq.3_Missense_Mutation_p.L2326F|ATRX_uc004eco.3_Missense_Mutation_p.L2149F NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2364 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GCCTCTGAGAGATTCATGTTC 0.348 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 21 12 0 0 0 0 LPAR4 2846 broad.mit.edu 37 X 78010388 78010388 + Missense_Mutation SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:78010388G>A uc010nme.2 + 2 427 c.22G>A c.(22-24)GAC>AAC p.D8N NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 8 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 AAGATTCATTGACTTCCAATT 0.438 NA 14 23 0 0 0 0 DRP2 1821 broad.mit.edu 37 X 100496666 100496666 + Missense_Mutation SNP C C T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:100496666C>T uc004egz.2 + 7 938 c.569C>T c.(568-570)CCG>CTG p.P190L DRP2_uc011mrh.1_Missense_Mutation_p.P112L NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 190 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GATACCTCCCCGAAACAGCGG 0.527 NA 10 39 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105179293 105179293 + Nonsense_Mutation SNP G G T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:105179293G>T uc004emd.2 + 21 3934 c.3631G>T c.(3631-3633)GAG>TAG p.E1211* NRK_uc010npc.1_Nonsense_Mutation_p.E879* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1211 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GTTCACTTCTGAGATCTGCTG 0.353 NA HNSCC(51;0.14) 20 11 5.04e-11 5.39e-11 1 0 LUZP4 51213 broad.mit.edu 37 X 114540829 114540829 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:114540829G>A uc004eqa.2 + 4 436 c.402G>A c.(400-402)GGG>GGA p.G134G LUZP4_uc004eqb.2_Silent_p.G52G NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 134 nucleus ovary(2) 2 AGTCAGAGGGGAACCAGCATC 0.433 NA 18 24 0 0 0 0 GLUD2 2747 broad.mit.edu 37 X 120183061 120183061 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:120183061C>G uc004eto.2 + 1 1600 c.1523C>G c.(1522-1524)TCT>TGT p.S508C NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 508 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) ATTGTGCACTCTGCCTTGGCA 0.463 NA 31 24 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135427079 135427079 + Nonsense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:135427079C>G uc004ezu.1 + 6 1505 c.1214C>G c.(1213-1215)TCA>TGA p.S405* GPR112_uc010nsb.1_Nonsense_Mutation_p.S200*|GPR112_uc010nsc.1_Nonsense_Mutation_p.S172* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 405 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCTTTATTTTCAACTATTGAG 0.388 NA 25 49 0 0 0 0 CXorf40A 91966 broad.mit.edu 37 X 148628500 148628500 + Missense_Mutation SNP G G C TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:148628500G>C uc004fdb.2 + 5 741 c.469G>C c.(469-471)GAA>CAA p.E157Q CXorf40A_uc011mxm.1_Missense_Mutation_p.E157Q|CXorf40A_uc011mxn.1_Missense_Mutation_p.E157Q|CXorf40A_uc004fdd.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fde.1_Intron|CXorf40A_uc004fdg.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdf.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdh.2_Intron|CXorf40A_uc010nsy.2_Missense_Mutation_p.E157Q|CXorf40A_uc004fdi.2_Missense_Mutation_p.E174Q NM_178124 NP_835225 Q8TE69 CX04A_HUMAN chromosome X open reading frame 40 157 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ATTGGGGCATGAAGTGTGACA 0.478 NA 4 11 0 0 0 0 CXorf40B 541578 broad.mit.edu 37 X 149100770 149100770 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:149100770C>G uc004fdy.2 - 5 985 c.469G>C c.(469-471)GAA>CAA p.E157Q CXorf40B_uc011mxs.1_Intron NM_001013845 NP_001013867 Q96DE9 CX04B_HUMAN hypothetical protein LOC541578 157 0 Acute lymphoblastic leukemia(192;6.56e-05) TGTCACACTTCATGCCCCAAA 0.483 NA 13 84 0 0 0 0 PLXNB3 5365 broad.mit.edu 37 X 153035337 153035337 + Missense_Mutation SNP C C G TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chrX:153035337C>G uc004fii.2 + 7 1746 c.1572C>G c.(1570-1572)CAC>CAG p.H524Q PLXNB3_uc011mzb.1_Missense_Mutation_p.H60Q|PLXNB3_uc011mzc.1_Missense_Mutation_p.H206Q|PLXNB3_uc010nuk.2_Missense_Mutation_p.H547Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.H163Q NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 524 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGGACAGCCACTGCCTGCACA 0.687 NA 4 7 0 0 0 0 CYP2J2 1573 broad.mit.edu 37 1 60381745 60381746 + Frame_Shift_Ins INS - - A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr1:60381745_60381746insA uc001czq.2 - 2 242_243 c.237_238insT c.(235-240)TTTAGCfs p.F79fs NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 79_80 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) AGCTCCAAGCTAAAAAGGTTCC 0.411 NA 21 65 --- --- --- --- NA NA NA NA CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr11:104879687delT uc010rva.1 - 2 60 c.28delA c.(28-30)AGGfs p.R10fs CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 10 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 NA 8 59 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49436553 49436559 + Frame_Shift_Del DEL CGGCTGC CGGCTGC - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:49436553_49436559delCGGCTGC uc001rta.3 - 26 5747_5753 c.5747_5753delGCAGCCG c.(5746-5754)GGCAGCCGTfs p.G1916fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1916_1918 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CAGTGGCGTACGGCTGCCTTCTAGGCC 0.546 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 22 86 --- --- --- --- NA NA NA NA OR6C74 254783 broad.mit.edu 37 12 55641287 55641287 + Frame_Shift_Del DEL A A - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr12:55641287delA uc010spg.1 + 1 216 c.216delA c.(214-216)ACAfs p.T72fs NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCTCATTCACAACTGTCTACA 0.393 NA 61 189 --- --- --- --- NA NA NA NA PDCD7 10081 broad.mit.edu 37 15 65426079 65426079 + Frame_Shift_Del DEL G G - TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr15:65426079delG uc002aol.2 - 1 96 c.41delC c.(40-42)CCAfs p.P14fs NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 14 Pro-rich. apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 CGGGGGCGGTGGGCCTGGGCG 0.692 NA 2 4 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578234 7578235 + Frame_Shift_Ins INS - - T TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr17:7578234_7578235insT uc002gim.2 - 6 808_809 c.614_615insA c.(613-615)TATfs p.Y205fs TP53_uc002gig.1_Frame_Shift_Ins_p.Y205fs|TP53_uc002gih.2_Frame_Shift_Ins_p.Y205fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.Y73fs|TP53_uc010cng.1_Frame_Shift_Ins_p.Y73fs|TP53_uc002gii.1_Frame_Shift_Ins_p.Y73fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.Y205fs|TP53_uc010cni.1_Frame_Shift_Ins_p.Y205fs|TP53_uc002gij.2_Frame_Shift_Ins_p.Y205fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.Y112fs|TP53_uc002gio.2_Frame_Shift_Ins_p.Y73fs|TP53_uc010vug.1_Frame_Shift_Ins_p.Y166fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.Y112C(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTCATCCAAATACTCCACACG 0.54 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 21 --- --- --- --- NA NA NA NA SPAG4 6676 broad.mit.edu 37 20 34207645 34207646 + Frame_Shift_Ins INS - - C rs76103999 TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0e0aa5da-2cb2-47b8-b000-83a07d68ed29 090dd4aa-5adb-4e8e-9ea0-d25775dfa21c g.chr20:34207645_34207646insC uc002xdb.1 + 10 1171_1172 c.1054_1055insC c.(1054-1056)GCCfs p.A352fs SPAG4_uc010zvi.1_Frame_Shift_Ins_p.A275fs NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 352 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) AGCCAACAGCGCCCCCCGCGAT 0.619 NA 12 61 --- --- --- --- NA NA NA NA